Sample records for abnormalities clinical history

  1. Assessing Abnormal Uterine Bleeding: Are Physicians Taking a Meaningful Clinical History?

    PubMed

    Lam, Christina; Anderson, Britta; Lopes, Vrishali; Schulkin, Jay; Matteson, Kristen

    2017-07-01

    Women with abnormal uterine bleeding (AUB) report significant reductions in quality of life (QOL), which can be attributed in many cases to the fear of embarrassing episodes of bleeding. We performed this study to determine whether or not during clinical encounters physicians addressed the impact of AUB on patient-reported QOL. Between October 2008 and May 2009, we conducted a cross-sectional study of members of the American College of Obstetricians and Gynecologists. Surveys were distributed using a mixed method (web- and mail-based) and included questions about physician characteristics and types of questions used when obtaining a clinical history from a patient with AUB. We calculated the proportion of physicians who endorsed asking each type of clinical question with 95% confidence intervals (CIs). Four hundred seventeen questionnaires were returned (52%). Ninety-nine percent (95% CI 98.4%-99.9%) reported always asking a bleeding heaviness question, 87.2% (95% CI 83.2%-90.5%) reported always asking a QOL question, and 17.5% (95% CI 13.6%-21.9%) reported always asking a mood associated with bleeding question. Seventy-eight percent specifically asked patients about bleeding through their clothes, and 55% asked about changing social plans because of bleeding. Only 18% endorsed that asking about QOL was most essential for the evaluation of women with AUB. No physician characteristics such as years since completing residency, geography, or gender were associated with how commonly providers reported asking questions regarding impact of bleeding on QOL. Physicians may not be optimizing patient-provider interactions during menstrual history taking with patients with AUB by failing to assess impact of AUB on QOL in a way that is meaningful to patients.

  2. Abnormal appearances: inspection, display and the clinic.

    PubMed

    Featherstone, Katie; Atkinson, Paul

    2014-01-01

    We provide an examination of the field of dysmorphology, a clinical speciality that in its current form combines a long history of inspection and display with the identification and representation of associated underlying molecular changes. The recognition and description of abnormal appearances is thus increasingly accompanied by genetic and other molecular investigations. Our analysis draws on our long-term ethnographic engagement with a UK clinical genetics service and the work of two clinical genetics teams within a regional teaching hospital. We document the intersection of genetic science with clinical work to suggest that while molecular testing often identifies the genetic basis for unusual appearances and abnormal development, it does not fully supplant clinical apperception and interpretation. The two modes of knowledge--the clinical and the biomedical--co-exist in the work and the discourse of dysmorphology practice. The contemporary dysmorphology clinic thus encapsulates the epistemological systems of modern medicine, grounded in the clinical gaze and on the classificatory systems of classic nosology. Within such a system of clinical knowledge, the 'monstrous' does not escape the boundaries of knowledge. Monstrous appearances are accommodated and domesticated within the classificatory systems of normal medicine.

  3. Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management

    PubMed Central

    Lin, Angela E.; Basson, Craig T.; Goldmuntz, Elizabeth; Magoulas, Pilar L.; McDermott, Deborah A.; McDonald-McGinn, Donna M.; McPherson, Elspeth; Morris, Colleen A.; Noonan, Jacqueline; Nowak, Catherine; Pierpont, Mary Ella; Pyeritz, Reed E.; Rope, Alan F.; Zackai, Elaine; Pober, Barbara R.

    2009-01-01

    Cardiovascular abnormalities, especially structural congenital heart defects (CHDs), commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected CHDs such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology followup, primary care providers, geneticists and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical and reproductive issues associated with common genetic syndromes which are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome. PMID:18580689

  4. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.

    PubMed

    Wilhelm, Carolyn M; Truxal, Kristen V; McBride, Kim L; Kovalchin, John P; Flanigan, Kevin M

    2018-06-01

    Mucopolysaccharidosis (MPS) type III, Sanfilippo Syndrome, is an autosomal recessive lysosomal storage disorder. MPS I and II patients often develop cardiac involvement leading to early mortality, however there are limited data in MPS III. The objective of this study is to describe cardiac abnormalities in a large group of MPS III patients followed in a longitudinal natural history study designed to determine outcome measures for gene transfer trials. A single center study of MPS III patients who were enrolled in the Nationwide Children's Hospital natural history study in 2014. Two cardiologists reviewed all patient echocardiograms for anatomic, valvular, and functional abnormalities. Valve abnormalities were defined as abnormal morphology, trivial mitral regurgitation (MR) with abnormal morphology or at least mild MR, and any aortic regurgitation (AR). Abnormal left ventricular (LV) function was defined as ejection fraction < 50%. Group comparisons were assessed using two-sample t-tests or Wilcoxon rank sum tests for continuous variables and chi-square or Fisher's exact tests for categorical variables. Twenty-five patients, 15 Type A and 10 Type B MPS III, underwent 45 echocardiograms. Fifteen patients (60%) demonstrated an abnormal echocardiographic finding with age at first abnormal echocardiogram within the study being 6.8 ± 2.8 years. Left-sided valve abnormalities were common over time: 7 mitral valve thickening, 2 mitral valve prolapse, 16 MR (8 mild, 8 trivial), 3 aortic valve thickening, and 9 AR (7 mild, 2 trivial). Two patients had asymmetric LV septal hypertrophy. No valvular stenosis or ventricular function abnormalities were noted. Incidental findings included: mild aortic root dilation (2), bicommissural aortic valve (1), and mild tricuspid regurgitation (3). Individuals with Sanfilippo A and B demonstrate a natural history of cardiac involvement with valvular abnormalities most common. In short-term follow up, patients demonstrated only

  5. Incorporation of a clinical history into the interpretation process in a PACS environment

    NASA Astrophysics Data System (ADS)

    Cooperstein, Lawrence A.; Good, Barbara C.; Miketic, Linda M.; Tabor, Ellen K.; Yousem, Samuel A.; King, Jill L.; Gennari, Rose C.; Felice, Marc A.; Sidorovich, Kathleen

    1990-08-01

    In a large-scale, multi-reader study to investigate questions surrounding the issue of the implementation of picture archiving and communications systems (PACS) into the modern radiology environment, we examined the effect that the incorporation of a clinical history into the reading process would have on levels of diagnostic accuracy. Because we wanted to test the inclusion of the clinical history in an environment as close to that of the clinical situation as possible, we defined "history" to be a concise, objective, and potentially computer-extractable version of what appears in the patient records, including a statement from the referring physician when this is available. In a series of studies, four radiologists interpreted 247 posteroanterior normal and abnormal chest images on conventional film both with and without accompanying patient histories; five radiologists read the same number of images presented on a high-resolution video workstation with and without clinical histories. There were no significant differences (p = .05) in diagnostic accuracy rates with or without clinical history for either the film or the workstation in cases of interstitial disease, nodules, or pneumothorax. Diagnostic accuracy for the radiologists as a group was not affected by the presence of the clinical history. We concluded that for the interpretation of these abnormalities, the incorporation of clinical history with images in the PACS environment should not be a major goal.

  6. Adults with a history of illicit amphetamine use exhibit abnormal substantia nigra morphology and parkinsonism.

    PubMed

    Todd, Gabrielle; Pearson-Dennett, Verity; Wilcox, Robert A; Chau, Minh T; Thoirs, Kerry; Thewlis, Dominic; Vogel, Adam P; White, Jason M

    2016-04-01

    The sonographic appearance of the substantia nigra is abnormally bright and enlarged (hyperechogenic) in young adults with a history of illicit stimulant use. The abnormality is a risk factor for Parkinson's disease. The aim of the current study was to identify the type of illicit stimulant drug associated with substantia nigra hyperechogenicity and to determine if individuals with a history of illicit stimulant use exhibit clinical signs of parkinsonism. We hypothesised that use of amphetamines (primarily methamphetamine) is associated with substantia nigra hyperechogenicity and clinical signs of parkinsonism. The area of echogenic signal in the substantia nigra was measured in abstinent human amphetamine users (n = 27; 33 ± 8 years) and in three control groups comprising a) 'ecstasy' users (n = 19; 23 ± 3 years), b) cannabis users (n = 30; 26 ± 8 years), and c) non-drug users (n = 37; 25 ± 7 years). A subset of subjects (n = 55) also underwent a neurological examination comprising the third and fifth part of the Unified Parkinson's Disease Rating Scale. Area of substantia nigra echogenicity was significantly larger in the amphetamine group (0.276 ± 0.080 cm(2)) than in the control groups (0.200 ± 0.075, 0.190 ± 0.049, 0.191 ± 0.055 cm(2), respectively; P < 0.002). The score on the clinical rating scale was also significantly higher in the amphetamine group (8.4 ± 8.1) than in pooled controls (3.3 ± 2.8; P = 0.002). Illicit use of amphetamines is associated with abnormal substantia nigra morphology and subtle clinical signs of parkinsonism. The results support epidemiological findings linking use of amphetamines, particularly methamphetamine, with increased risk of developing Parkinson's disease later in life. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Clozapine-induced EEG abnormalities and clinical response to clozapine.

    PubMed

    Risby, E D; Epstein, C M; Jewart, R D; Nguyen, B V; Morgan, W N; Risch, S C; Thrivikraman, K V; Lewine, R L

    1995-01-01

    The authors hypothesized that patients who develop gross EEG abnormalities during clozapine treatment would have a less favorable outcome than patients who did not develop abnormal EEGs. The clinical EEGs and the Brief Psychiatric Rating Scale (BPRS) scores of 12 patients with schizophrenia and 4 patients with schizoaffective disorder were compared before and during treatment with clozapine. Eight patients developed significant EEG abnormalities on clozapine; 1 showed worsening of an abnormal pre-clozapine EEG; none of these subjects had clinical seizures. BPRS scores improved significantly in the group of patients who developed abnormal EEGs but not in the group who did not. Findings are consistent with previous reports of a high incidence of clozapine-induced EEG abnormalities and a positive association between these abnormalities and clinical improvement.

  8. Family history of psychosis moderates early auditory cortical response abnormalities in non-psychotic bipolar disorder

    PubMed Central

    Hamm, Jordan P; Ethridge, Lauren E; Shapiro, John R; Pearlson, Godfrey D; Tamminga, Carol A; Sweeney, John A; Keshavan, Matcheri S; Thaker, Gunvant K; Clementz, Brett A

    2017-01-01

    Objectives Bipolar I disorder is a disabling illness affecting 1% of people worldwide. Family and twin studies suggest that psychotic bipolar disorder (BDP) represents a homogenous subgroup with an etiology distinct from non-psychotic bipolar disorder (BDNP) and partially shared with schizophrenia. Studies of auditory electrophysiology [e.g., paired-stimulus and oddball measured with electroencephalography (EEG)] consistently report deviations in psychotic groups (schizophrenia, BDP), yet such studies comparing BDP and BDNP are sparse and, in some cases, conflicting. Auditory EEG responses are significantly reduced in unaffected relatives of psychosis patients, suggesting that they may relate to both psychosis liability and expression. Methods While 64-sensor EEGs were recorded, age- and gender-matched samples of 70 BDP, 35 BDNP {20 with a family history of psychosis [BDNP(+)]}, and 70 psychiatrically healthy subjects were presented typical auditory paired-stimuli and auditory oddball paradigms. Results Oddball P3b reductions were present and indistinguishable across all patient groups. P2s to paired-stimuli were abnormal only in BDP and BDNP(+). Conversely, N1 reductions to stimuli in both paradigms and P3a reductions were present in both BDP and BDNP(−) groups but were absent in BDNP(+). Conclusions While nearly all auditory neural response components studied were abnormal in BDP, BDNP abnormalities at early- and mid-latencies were moderated by family psychosis history. The relationship between psychosis expression, heritable psychosis risk, and neurophysiology within bipolar disorder, therefore, may be complex. Consideration of such clinical disease heterogeneity may be important for future investigations of the pathophysiology of major psychiatric disturbance. PMID:23941660

  9. Oculomotor Cognitive Control Abnormalities in Australian Rules Football Players with a History of Concussion.

    PubMed

    Clough, Meaghan; Mutimer, Steven; Wright, David K; Tsang, Adrian; Costello, Daniel M; Gardner, Andrew J; Stanwell, Peter; Mychasiuk, Richelle; Sun, Mujun; Brady, Rhys D; McDonald, Stuart J; Webster, Kyria M; Johnstone, Maddison R; Semple, Bridgette D; Agoston, Denes V; White, Owen B; Frayne, Richard; Fielding, Joanne; O'Brien, Terence J; Shultz, Sandy R

    2018-03-01

    This study used oculomotor, cognitive, and multi-modal magnetic resonance imaging (MRI) measures to assess for neurological abnormalities in current asymptomatic amateur Australian rules footballers (i.e., Australia's most participated collision sport) with a history of sports-related concussion (SRC). Participants were 15 male amateur Australian rules football players with a history of SRC greater than 6 months previously, and 15 sex-, age-, and education-matched athlete control subjects that had no history of neurotrauma or participation in collision sports. Participants completed a clinical interview, neuropsychological measures, and oculomotor measures of cognitive control. MRI investigation involved structural imaging, as well as diffusion tensor imaging and resting-state functional MRI sequences. Despite no group differences on conventional neuropsychological tests and multi-modal MRI measures, Australian rules football players with a history of SRC performed significantly worse on an oculomotor switch task: a measure of cognitive control that interleaves the response of looking towards a target (i.e., a prosaccade) with the response of looking away from a target (i.e., an antisaccade). Specifically, Australian footballers performed significantly shorter latency prosaccades and found changing from an antisaccade trial to a prosaccade trial (switch cost) significantly more difficult than control subjects. Poorer switch cost was related to poorer performance on a number of neuropsychological measures of inhibitory control. Further, when comparing performance on the cognitively more demanding switch task with performance on simpler, antisaccade/prosaccades tasks which require a single response, Australian footballers demonstrated a susceptibility to increased cognitive load, compared to the control group who were unaffected. These initial results suggest that current asymptomatic amateur Australian rules football players with a history of SRC may have persisting

  10. Improving the availability of clinical history accompanying radiographic examinations in a large pediatric radiology department.

    PubMed

    Hawkins, C Matthew; Anton, Christopher G; Bankes, Wendy M; Leach, Alan D; Zeno, Michael J; Pryor, Rebecca M; Larson, David B

    2014-04-01

    The purpose of this quality improvement initiative was to improve the consistency with which radiologists are provided a complete clinical history when interpreting radiography examinations performed in the outpatient and emergency department settings. The clinical history was considered complete if it contained three elements: nature of the symptoms, description of injury, or cause for clinical concern; duration of symptoms or time of injury; and focal site of pain or abnormality, if applicable. This was reduced to three elements: "what-when-where." A goal was established that 95% of the clinical histories should contain all three elements. To achieve this goal, technologists supplemented referring clinicians' history. The project was divided into four phases: launch, support, transition to sustainability, and maintenance. During the support phase, results of automated weekly audits automatically populated group-level performance reports. During the transition to the sustainability phase, audit results populated individual-level performance reports. During the maintenance phase, quarterly audit results were incorporated into technologists' employee performance goals. Before initiation of the project, 38% (76/200) of radiography examinations were accompanied by a complete clinical history. This increased to 92% (928/1006) by the end of the 15-week improvement phase. Performance was sustained at 96% (1168/1213) 7 months later [corrected]. By clearly defining expectations for an appropriate clinical history and establishing system and organizational mechanisms to facilitate verifiable compliance, we were able to successfully and sustainably improve the consistency with which radiography examinations were accompanied by a complete clinical history.

  11. Is a history of cesarean section a risk factor for abnormal uterine bleeding in patients with uterine leiomyoma?

    PubMed

    Kinay, Tugba; Basarir, Zehra O; Tuncer, Serap F; Akpinar, Funda; Kayikcioglu, Fulya; Koc, Sevgi; Karakaya, Jale

    2016-08-01

    To determine whether a history of cesarean section was a risk factor for abnormal uterine bleeding in patients with uterine leiomyomas, and to identify other risk factors for this symptom. We analyzed retrospectively, the medical records of patients who underwent hysterectomies due to the presence of uterine leiomyomas during a 6-year period (2009 and 2014) at Etlik Zubeyde Hanim Women's Health Training and Research Hospital, Ankara, Turkey. Uterine leiomyoma was diagnosed based on histopathological examination of hysterectomy specimens. Demographic characteristics, and laboratory and histopathological findings were compared between patients with uterine leiomyoma with and without abnormal uterine bleeding. In total, 501 (57.9%) patients had abnormal uterine bleeding and 364 (42.1%) patients had other symptoms. A history of cesarean section was more common in patients with abnormal uterine bleeding than in those with other symptoms (17.6% versus 9.3%, p=0.001; odds ratio [OR]: 2.1; 95% confidence interval [CI]: 1.4-3.3). The presence of a submucosal leiomyoma (OR: 2.1; 95% CI: 1.5-3.1) and coexistent adenomyosis (OR: 1.6; 95% CI: 1.1-2.4) were also associated with abnormal uterine bleeding. A history of cesarean section was an independent risk factor for abnormal uterine bleeding in patients with uterine leiomyomas; submucosal leiomyoma and coexisting adenomyosis were also independent risk factors.

  12. Is a history of cesarean section a risk factor for abnormal uterine bleeding in patients with uterine leiomyoma?

    PubMed Central

    Kinay, Tugba; Basarir, Zehra O.; Tuncer, Serap F.; Akpinar, Funda; Kayikcioglu, Fulya; Koc, Sevgi; Karakaya, Jale

    2016-01-01

    Objectives: To determine whether a history of cesarean section was a risk factor for abnormal uterine bleeding in patients with uterine leiomyomas, and to identify other risk factors for this symptom. Methods: We analyzed retrospectively, the medical records of patients who underwent hysterectomies due to the presence of uterine leiomyomas during a 6-year period (2009 and 2014) at Etlik Zubeyde Hanim Women’s Health Training and Research Hospital, Ankara, Turkey. Uterine leiomyoma was diagnosed based on histopathological examination of hysterectomy specimens. Demographic characteristics, and laboratory and histopathological findings were compared between patients with uterine leiomyoma with and without abnormal uterine bleeding. Results: In total, 501 (57.9%) patients had abnormal uterine bleeding and 364 (42.1%) patients had other symptoms. A history of cesarean section was more common in patients with abnormal uterine bleeding than in those with other symptoms (17.6% versus 9.3%, p=0.001; odds ratio [OR]: 2.1; 95% confidence interval [CI]: 1.4-3.3). The presence of a submucosal leiomyoma (OR: 2.1; 95% CI: 1.5-3.1) and coexistent adenomyosis (OR: 1.6; 95% CI: 1.1-2.4) were also associated with abnormal uterine bleeding. Conclusion: A history of cesarean section was an independent risk factor for abnormal uterine bleeding in patients with uterine leiomyomas; submucosal leiomyoma and coexisting adenomyosis were also independent risk factors. PMID:27464864

  13. Clinical Correlation between Perverted Nystagmus and Brain MRI Abnormal Findings

    PubMed Central

    Han, Won-Gue; Yoon, Hee-Chul; Kim, Tae-Min; Rah, Yoon Chan

    2016-01-01

    Background and Objectives To analyze the clinical correlation between perverted nystagmus and brain magnetic resonance imaging (MRI) abnormal findings and to evaluate whether perverted nystagmus is clinically significant results of brain abnormal lesions or not. Subjects and Methods We performed medical charts review from January 2008 to July 2014, retrospectively. Patients who were suspected central originated vertigo at Frenzel goggles test were included among patients who visited our hospital. To investigate the correlation with nystagmus suspected central originated vertigo and brain MRI abnormal findings, we confirmed whether performing brain MRI or not. Then we exclude that patients not performed brain MRI. Results The number of patients with perverted nystagmus was 15, upbeating was 1 and down-beating was 14. Among these patients, 5 patients have brain MRI abnormal findings. However, 2 patients with MRI abnormal findings were not associated correctly with perverted nystagmus and only 3 patients with perverted nystagmus were considered central originated vertigo and further evaluation and treatment was performed by the department of neurology. Conclusions Perverted nystagmus was considered to the abnormalities at brain lesions, especially cerebellum, but neurologic symptoms and further evaluation were needed for exact diagnosis of central originated vertigo. PMID:27626081

  14. The prevalence of chromosomal abnormalities in subgroups of infertile men.

    PubMed

    Dul, E C; Groen, H; van Ravenswaaij-Arts, C M A; Dijkhuizen, T; van Echten-Arends, J; Land, J A

    2012-01-01

    The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of chromosomal abnormalities, possibly by using parameters other than sperm concentration. The aim of this study was to evaluate several clinical parameters in azoospermic and non-azoospermic men, in order to assess the prevalence of chromosomal abnormalities in different subgroups of infertile men. In a retrospective cohort of 1223 azoospermic men and men eligible for ICSI treatment, we studied sperm parameters, hormone levels and medical history for an association with chromosomal abnormalities. The prevalence of chromosomal abnormalities in the cohort was 3.1%. No association was found between chromosomal abnormalities and sperm volume, concentration, progressive motility or total motile sperm count. Azoospermia was significantly associated with the presence of a chromosomal abnormality [15.2%, odds ratio (OR) 7.70, P < 0.001]. High gonadotrophin levels were also associated with an increased prevalence of chromosomal abnormalities (OR 2.96, P = 0.013). Azoospermic men with a positive andrologic history had a lower prevalence of chromosomal abnormalities than azoospermic men with an uneventful history (OR 0.28, P = 0.047). In non-azoospermic men, we found that none of the studied variables were associated with the prevalence of chromosomal abnormalities. We show that the highest prevalence of chromosomal abnormalities is found in hypergonadotrophic azoospermic men with an uneventful andrologic history.

  15. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.

    PubMed

    Ovejero, D; Lim, Y H; Boyce, A M; Gafni, R I; McCarthy, E; Nguyen, T A; Eichenfield, L F; DeKlotz, C M C; Guthrie, L C; Tosi, L L; Thornton, P S; Choate, K A; Collins, M T

    2016-12-01

    Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia. Records from 56 individuals were reviewed and demonstrated fractures, scoliosis, and non-congenital hypophosphatemia that in some cases were resolved. Phosphate and calcitriol, but not skin lesion removal, were effective at controlling hypophosphatemia. No skeletal malignancies were found. CSHS is a disorder defined by the association of epidermal and/or melanocytic nevi, a mosaic skeletal dysplasia, and an FGF23-mediated hypophosphatemia. To date, somatic RAS mutations have been identified in all patients whose affected tissue has undergone DNA sequencing. However, the clinical spectrum and treatment are poorly defined in CSHS. The purpose of this study is to determine the spectrum of the phenotype, natural history of the disease, and response to treatment of hypophosphatemia. Five CSHS subjects underwent prospective data collection at clinical research centers. A review of the literature identified 45 reports that included a total of 51 additional patients, in whom the findings were compatible with CSHS. Data on nevi subtypes, bone histology, mineral and skeletal disorders, abnormalities in other tissues, and response to treatment of hypophosphatemia were analyzed. Fractures, limb deformities, and scoliosis affected most CSHS subjects. Hypophosphatemia was not present at birth. Histology revealed severe osteomalacia but no other abnormalities. Skeletal dysplasia was reported in all anatomical compartments, though less frequently in the spine; there was no clear correlation between the location of nevi and the skeletal lesions. Phosphate and calcitriol supplementation was the most effective therapy for rickets. Convincing data that nevi removal improved blood phosphate levels was lacking. An age-dependent improvement in mineral abnormalities was observed. A spectrum of extra

  16. EEG abnormalities and epilepsy in autistic spectrum disorders: clinical and familial correlates.

    PubMed

    Ekinci, Ozalp; Arman, Ayşe Rodopman; Işik, Uğur; Bez, Yasin; Berkem, Meral

    2010-02-01

    Our aim was to examine the characteristics of EEG findings and epilepsy in autistic spectrum disorders (ASD) and the associated clinical and familial risk factors. Fifty-seven children (86% male) with ASD, mean age 82+/-36.2 months, were included in the study. Thirty-nine (68.4%) children had the diagnosis of autism, 15 (26.3%) had Pervasive Developmental Disorder Not Otherwise Specified, and 3 (5.3%) had high-functioning autism. One hour of sleep and/or awake EEG recordings was obtained for each child. All patients were evaluated with respect to clinical and familial characteristics and with the Childhood Autism Rating Scale, the Autism Behavior Checklist, and the Aberrant Behavior Checklist. The frequency of interictal epileptiform EEG abnormalities (IIEAs) was 24.6% (n=14), and the frequency of epilepsy was 14.2% (n=8). IIEAs were associated with a diagnosis of epilepsy (P=0.0001), Childhood Autism Rating Scale Activity scores (P=0.047), and a history of asthma and allergy (P=0.044). Epilepsy was associated with a family history of epilepsy (P=0.049) and psychiatric problems in the mother during pregnancy (P=0.0026). Future studies with larger samples will help to clarify the possible associations of epilepsy/IIEAs with asthma/allergy, hyperactivity, and familial factors in ASD. (c) 2009 Elsevier Inc. All rights reserved.

  17. Clinical and metabolic abnormalities associated with occupational exposure to polychlorinated biphenyls (PCBs)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Chase, K.H.; Wong, O.; Thomas, D.

    1982-02-01

    A cross-sectional study of 120 male workers was conducted to determine the prevalence of increased polychlorinated biphenyl (PCB) absorption as well as the presence of potentially related clinical and metabolic abnormalities. Three exposure categories (''exposed'', ''nominally exposed'', ''nonexposed'') were defined. Complete work histories, clinical histories, physical examinations and laboratory tests, including plasma PCB determinations were obtained. In addition, fat PCB levels were determined in randomly selected subjects in each exposed group. Evidence of dermatotoxicity was observed and elevated PCB levels were noted more frequently in the exposed group (p < .00001), correlating well with age and duration of employment. Thesemore » correlations were stronger for fat (p < .001) than for plasma (p < .01) PCB levels. In the exposed group, significant correlations were found between plasma PCB and serum triglyceride (p < .00001) and serum glutamic oxaloacetic transaminase (SGOT) levels (p < .01). These correlations remained significant after controlling for either age or length of employment. No significant correlations were found between PCB levels and levels of cholesterol, high-density lipoprotein cholesterol or levels studied on liver function tests other than SGOT. Further analyses relating frequency of reported direct contact with PCB levels suggested a dermal route of exposure. An analysis by union affiliation demonstrated that those in crafts involving greater direct exposure had correspondingly higher elevations of PCB levels.« less

  18. Abnormal Uterine Bleeding: American College of Nurse-Midwives.

    PubMed

    2016-07-01

    Variations in uterine bleeding, termed abnormal uterine bleeding, occur commonly among women and often are physiologic in nature with no significant consequences. However, abnormal uterine bleeding can cause significant distress to women or may signify an underlying pathologic condition. Most women experience variations in menstrual and perimenstrual bleeding in their lifetimes; therefore, the ability of the midwife to differentiate between normal and abnormal bleeding is a key diagnostic skill. A comprehensive history and use of the PALM-COEIN classification system will provide clear guidelines for clinical management, evidence-based treatment, and an individualized plan of care. The purpose of this Clinical Bulletin is to define and describe classifications of abnormal uterine bleeding, review updated terminology, and identify methods of assessment and treatment using a woman-centered approach. © 2016 by the American College of Nurse-Midwives.

  19. The influence of brain abnormalities on psychosocial development, criminal history and paraphilias in sexual murderers.

    PubMed

    Briken, Peer; Habermann, Niels; Berner, Wolfgang; Hill, Andreas

    2005-09-01

    The aim of this study was to investigate the number and type of brain abnormalities and their influence on psychosocial development, criminal history and paraphilias in sexual murderers. We analyzed psychiatric court reports of 166 sexual murderers and compared a group with notable signs of brain abnormalities (N = 50) with those without any signs (N = 116). Sexual murderers with brain abnormalities suffered more from early behavior problems. They were less likely to cohabitate with the victim at the time of the homicide and had more victims at the age of six years or younger. Psychiatric diagnoses revealed a higher total number of paraphilias: Transvestic fetishism and paraphilias not otherwise specified were more frequent in offenders with brain abnormalities. A binary logistic regression identified five predictors that accounted for 46.8% of the variance explaining the presence of brain abnormalities. Our results suggest the importance of a comprehensive neurological and psychological examination of this special offender group.

  20. A Brief History of the Development of Abnormal Psychology: A Training Guide. Final Report.

    ERIC Educational Resources Information Center

    Phelps, William R.

    Presented for practitioners is a history of the development of abnormal psychology. Areas covered include the following: Early medical concepts, ideas carried over from literature, early treatment of the mentally ill, development of the psychological viewpoint, Freud's psychoanalytic theory, Jung's analytic theory, the individual psychology of…

  1. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

    PubMed

    Adam, Margaret P; Hennekam, Raoul C M; Keppen, Laura Davis; Bull, Marilyn J; Clericuzio, Carol L; Burke, Leah W; Ormond, Kelly E; Hoyme, Eugene H

    2005-08-30

    The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. (c) 2005 Wiley-Liss, Inc.

  2. Clinical signs and clinicopathologic abnormalities in dogs with clinical spirocercosis: 39 cases (1996-2004).

    PubMed

    Mylonakis, Mathios E; Rallis, Tim; Koutinas, Alexander F; Leontides, Leonidas S; Patsikas, Michail; Florou, Marianna; Papadopoulos, Elias; Fytianou, Anna

    2006-04-01

    To determine clinical signs and clinicopathologic abnormalities in dogs with naturally occurring clinical spirocercosis. Retrospective case series. 39 dogs with spirocercosis. Medical records were reviewed, and information on signalment, residence (rural vs urban), owner complaints, physical examination findings, clinicopathologic abnormalities, radiographic and endoscopic findings, and concurrent systemic diseases was recorded. Hellenic hounds and mixed-breed dogs were overrepresented, compared with a group of 117 control dogs without spirocercosis that were examined because of gastrointestinal tract disease, and mean body weight of dogs with spirocercosis was significantly higher than mean body weight of control dogs. Odynophagia (34 [87%]), regurgitation (24 [62%]), and excessive salivation (14 [36%]) were the most common clinical findings. The most common radiographic abnormalities were a mass in the caudodorsal aspect of the mediastinum (15/35 [43%]) and spondylitis of the caudal thoracic vertebrae (10 [29%]). Parasitic nodules were seen during esophagoscopy in all 39 dogs. Normocytic, normochromic, nonregenerative anemia; neutrophilic leukocytosis; hyperproteinemia; and high alkaline phosphatase activity were significantly more common in dogs with spirocercosis than in a control group of 56 healthy dogs. Concurrent systemic diseases, mainly leishmaniosis, dirofilariosis, and monocytic ehrlichiosis, were documented in 14 (36%) dogs. Results suggest that clinical spirocercosis occurs more often in young-adult, large-breed dogs. Nonregenerative anemia, neutrophilic leukocytosis, hyperproteinemia, and high alkaline phosphatase activity may be useful clinicopathologic indicators of this disease.

  3. [Hysteroscopy clinic: diagnostic and therapeutic method in abnormal uterine bleeding].

    PubMed

    Alanis Fuentes, José; Obregón Zegarra, Eva Haydee

    2012-12-01

    Abnormal uterine bleeding is a public health problem prevalence exceeded only by abnormal vaginal discharge as a reason for medical consultation. To describe the findings reported by the Hysteroscopy clinic of the Hospital GEA Gonzalez on patients with Abnormal Uterine bleeding diagnosis. Retrospective, transversal, descriptive study. The total 2546 records of those patient that were evaluated by Office Hysteroscopic between January 2007 and December 2008 on the Hysteroscopy Clinic of Hospital Manuel GEA Gonzalez, then we selected the 1482 records of those patients that were sended because of an Abnormal Uterine bleeding condition. We descrive the frequencies of the diagnosis and its interrelation with the age of the patients. We also report the therapeutical interventions during office hysteroscopy. The mean age of the patients was 42.15 +/- 9.30 years (from 12 a 92 years); the age groups of patients that belonged to 40-44 years and 45-49 years are the most frequent patient and they represent the 25% y el 23.3% of the records. The abnormal findings occurred on the 66% de of the patients. Those patients of 65 years old and older do not have any report of normal cavities, all of then have abnormal findings. The leiomyoma (26.9%) and the endometrial polyps (27.3%) were the most frequent findings. The postmenopausal bleeding had a rate of 90.9% abnormal findings and in this group of patients the most frequent diagnosis was atrophic endometrium (32.2%) and polyps (24.3%). Besides that the office hysteroscopy show its therapeutical usefulness because of the 67% and 77.5% of polipectomy perform for endometrial and cervical polyps respectively The office Hysteroscopy is a well tolerated diagnosis and therapeutic method that is useful for any women with abnormal uterine bleeding condition and it is the ideal technique for the examination of abnormal uterine bleeding in postmenopausal women... The office hysteroscopy is a efficient cost-effective and cost-benefic method for

  4. Clinical and metabolic abnormalities associated with occupational exposure to polychlorinated biphenyls (PCBs)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Chase, K.H.; Wong, O.; Thomas, D.

    1982-02-01

    A cross-sectional study of 120 male workers was conducted to determine the prevalence of increased polychlorinated biphenyl (PCB) absorption as well as the presence of potentially related clinical and metabolic abnormalities. Three exposure categories (''exposed'', ''nominally exposed'', ''nonexposed'') were defined. Complete work histories, clinical histories, physical examinations and laboratory tests, including plasma PCB determinations were obtained. In addition, fat PCB levels were determined in randomly selected subjects in each exposed group. Evidence of dermatotoxicity was observed and elevated PCB levels were noted more frequently in the exposed group (p less than .0001), correlating well with age and duration of employment.more » These correlations were stronger for fat (p less than .001) than for plasma (p less than .01) PCB levels. In the exposed group, significant correlations were found between plasma PCB and serum triglyceride (p less than .0001) and serum glutamic oxaloacetic transaminase (SGOT) levels (p less than .01). These correlations remained significant after controlling for either age or length of employment. No significant correlations were found between PCB levels and levels of cholesterol, high-density lipoprotein cholesterol or levels studied on liver function tests other than SGOT. Further analyses relating frequency of reported direct contact with PCB levels suggested a dermal route of exposure. An analysis by union affiliation demonstrated that those in crafts involving greater direct exposure had correspondingly higher elevations of PCB levels.« less

  5. Abnormal Uterine Bleeding: Current Classification and Clinical Management.

    PubMed

    Bacon, Janice L

    2017-06-01

    Abnormal uterine bleeding is now classified and categorized according to the International Federation of Gynecology and Obstetrics classification system: PALM-COEIN. This applies to nongravid women during their reproductive years and allows more clear designation of causes, thus aiding clinical care and future research. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Temporal pole abnormalities in temporal lobe epilepsy with hippocampal sclerosis: Clinical significance and seizure outcome after surgery.

    PubMed

    Di Gennaro, Giancarlo; D'Aniello, Alfredo; De Risi, Marco; Grillea, Giovanni; Quarato, Pier Paolo; Mascia, Addolorata; Grammaldo, Liliana G; Casciato, Sara; Morace, Roberta; Esposito, Vincenzo; Picardi, Angelo

    2015-11-01

    To assess the clinical significance of temporal pole abnormalities (temporopolar blurring, TB, and temporopolar atrophy, TA) in patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS) with a long post-surgical follow-up. We studied 60 consecutive patients with TLE-HS and 1.5 preoperative MRI scans who underwent surgery and were followed up for at least 5 years (mean follow-up 7.3 years). Based on findings of pre-surgical MRI, patients were classified according to the presence of TB or TA. Groups were compared on demographic, clinical, neuropsychological data, and seizure outcome. TB was found in 37 (62%) patients, while TA was found in 35 (58%) patients, always ipsilateral to HS, with a high degree of overlap (83%) between TB and TA (p<0.001). Patients with TB did not differ from those without TB with regard to history of febrile convulsions, GTCSs, age of epilepsy onset, side of surgery, seizure frequency, seizure outcome, and neuropsychological outcome. On the other hand, they were significantly older, had a longer duration of epilepsy, and displayed lower preoperative scores on several neuropsychological tests. Similar findings were observed for TA. Multivariate analysis corroborated the association between temporopolar abnormalities and age at onset, age at surgery (for TB only), and lower preoperative scores on some neuropsychological tests. Temporopolar abnormalities are frequent in patients with TLE-HS. Our data support the hypothesis that TB and TA are caused by seizure-related damages. These abnormalities did not influence seizure outcome, even after a long-term post-surgical follow-up. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  7. Electrocardiographic abnormalities in opiate addicts.

    PubMed

    Wallner, Christina; Stöllberger, Claudia; Hlavin, Anton; Finsterer, Josef; Hager, Isabella; Hermann, Peter

    2008-12-01

    To determine in a cross-sectional study the prevalence of electrocardiographic (ECG) abnormalities in opiate addicts who were therapy-seeking and its association with demographic, clinical and drug-specific parameters. In consecutive therapy-seeking opiate addicts, a 12-lead ECG was registered within 24 hours after admission and evaluated according to a pre-set protocol between October 2004 and August 2006. Additionally, demographic, clinical and drug-specific parameters were recorded. Included were 511 opiate-addicts, 25% female, with a mean age of 29 years (range 17-59 years). One or more ECG abnormalities were found in 314 patients (61%). In the 511 patients we found most commonly ST abnormalities (19%), QTc prolongation (13%), tall R- and/or S-waves (11%) and missing R progression (10%). ECG abnormalities were more common in males than in females (64 versus 54%, P < 0.05), and in patients with positive than negative urine findings for cannabis (68 versus 57%, P < 0.05). Patients with ST abnormalities were more often males than females (21 versus 11%, P < 0.05), had a history of seizures less often (16 versus 27%, P < 0.05), had positive than negative urine findings for cannabis more often (26 versus 15%, P < 0.01) and had negative than positive urine findings for methadone more often (21 versus 11%, P < 0.05). QTc prolongation was more frequent in patients with high dosages of maintenance drugs than in patients with medium or low dosages (27 versus 12 versus 10%, P < 0.05) and in patients whose urine findings were positive than negative for methadone (23 versus 11%, P < 0.001) as well as for benzodiazepines (17 versus 9%, P < 0.05). Limitations of the data are that in most cases other risk factors for the cardiac abnormalities were not known. ECG abnormalities are frequent in opiate addicts. The most frequent ECG abnormalities are ST abnormalities, QTc prolongation and tall R- and/or S-waves. ST abnormalities are associated with cannabis, and QTc prolongation

  8. The Chronic Encephalopathy of Parry Romberg Syndrome and En Coupe De Sabre with a 31-Year-History in a West Indian Woman: Clinical, Immunologic and Neuroimaging Abnormalities.

    PubMed

    Seegobin, Karan; Abdool, Kamille; Ramcharan, Kanterpersad; Dyaanand, Haramnauth; Rampersad, Fidel

    2016-09-30

    We describe a case of Parry Romberg syndrome/ en coupe de sabre in a woman whose disease started as seizures at age 8 but was diagnosed at the age 39. During these 31 years she got married, completed a first degree at university, had two successful pregnancies and has been gainfully employed. The features of generalized tonic-clonic seizures, autoimmune abnormalities, ocular abnormalities, morphea en coup de sabre and brain imaging abnormalities were present. Areas of parietal lobe cerebral calcification were encountered on the computed tomographic scan and bilateral periventricular white matter changes on the magnetic resonance imaging with frontal, temporal and parietal lobe brain atrophy ipsilateral to the facial hemiatrophy. Clinical, immunologic and neuroradiological abnormalities are discussed. In some cases, this illness can run a benign and stable course.

  9. Subclinical ultrasonographic abnormalities of the suspensory ligament branches in National Hunt racehorses.

    PubMed

    Fairburn, A J; Busschers, E; Barr, A R S

    2017-07-01

    Suspensory ligament branch (SLB) desmopathy is a common cause of lameness and an important cause of lost training in the Thoroughbred racing industry. Studies have assessed the impact of insertional injuries of the SLB on the careers of flat racehorses and established the prevalence of subclinical ultrasonographic SLB abnormalities in this population, but little work has investigated SLB injury in National Hunt (NH) racehorses. To investigate the prevalence of subclinical ultrasonographic SLB abnormalities in NH racehorses with no clinical signs or history of SLB injury and to establish the cross-sectional area (CSA) of SLBs in this population. Cross-sectional study using data collected from horses on an NH yard. Ultrasonographic examination of forelimb SLBs in 62 horses on a single NH yard was performed. Images were graded according to a previously reported system. CSA measurements were obtained from transverse images. Nineteen of 62 horses had at least one SLB with grade 2 ultrasonographic abnormalities. Grade 2 ultrasonographic abnormalities occurred more frequently in the medial than the lateral SLB (P = 0.05). The medial SLB insertional CSA was significantly larger (P<0.001) than that of the lateral SLB. Length of time on the yard (and therefore available veterinary history) is variable in this population. One in three NH racehorses without history or clinical signs of SLB injury had at least one SLB with a grade 2 ultrasonographic abnormality. The medial branch was over-represented. The medial SLB insertional CSA is larger than the lateral and thus comparison with the corresponding branch in the contralateral limb is recommended to avoid misdiagnosis of medial SLB enlargement. © 2016 EVJ Ltd.

  10. The Accuracy of the VISA-P Questionnaire, Single-Leg Decline Squat, and Tendon Pain History to Identify Patellar Tendon Abnormalities in Adult Athletes.

    PubMed

    Mendonça, Luciana de Michelis; Ocarino, Juliana Melo; Bittencourt, Natália Franco Netto; Fernandes, Ludmila Maria Oliveira; Verhagen, Evert; Fonseca, Sérgio Teixeira

    2016-08-01

    Study Design Cross-sectional clinical assessment. Background Patellar tendinopathy is not always accompanied by patellar tendon abnormalities (PTAs). Thus, clinical screening tools to help identify patients with patellar tendon pain who have PTAs could enhance clinical decision making and patient prognosis. Objectives To test the diagnostic accuracy of the Victorian Institute of Sport Assessment-Patella (VISA-P) questionnaire, a single-leg decline squat (SLDS), tendon pain history, age, and years of sports participation to identify athletes with symptomatic patellar tendons who have PTAs confirmed on imaging. Methods Data provided by ultrasound examination, the VISA-P questionnaire, the SLDS, tendon pain history, age, and years of sport participation were collected in 43 athletes. A classification and regression tree (CART) model was developed to verify variables associated with PTA occurrence. Likelihood ratios (LRs) were computed for positive and negative tests. Results The SLDS, VISA-P questionnaire, and tendon pain history were associated with PTA occurrence. Athletes with negative results on all 3 tests (CART model) had a lower likelihood of having PTAs (negative LR = 0.3; 95% confidence interval [CI]: 0.2, 0.5). The isolated use of the SLDS or tendon pain history (positive LR = 4.2; 95% CI: 2.3, 7.14 and 4.5; 95% CI: 1.8, 11.1, respectively) had similar influence on probability of PTA presence compared to the CART model (positive LR = 4.1; 95% CI: 2.5, 6.3). Conclusion Although the objective was to investigate a clinical test to identify PTAs, the combined use of the tests had greater accuracy to identify individuals without PTAs. Level of Evidence Diagnosis, level 3b. J Orthop Sports Phys Ther 2016;46(8):673-680. Epub 3 Jul 2016. doi:10.2519/jospt.2016.6192.

  11. Liver function tests abnormality and clinical severity of dengue infection in adult patients.

    PubMed

    Kittitrakul, Chatporn; Silachamroon, Udomsak; Phumratanaprapin, Weerapong; Krudsood, Srivicha; Wilairatana, Polrat; Treeprasertsuk, Sombat

    2015-01-01

    The clinical manifestations of dengue infection in the adult are different from those in children, i.e. having less prevalence to bleeding, and more commonly, abnormal liver function tests. The primary objective is to describe the clinical manifestations of dengue infection in adult patients. The secondary objective is to compare the clinical manifestations of dengue infection between the groups of normal and abnormal liver function tests in adult patients. Retrospective study was done in adults (age 15 years) dengue patients admitted at the Hospital for Tropical Diseases from 2000-2002. Dengue infection diagnosed by WHO clinical criteria 1997 with serological tests confirmed by ELISA test or Rapid Immunochromatographic test. Liver function test was recorded by day of fever. There were 127 adult dengue patients with mean age 26.4 ± 11.5 years. Classifications of dengue infection by WHO criteria were DF 4.7%, DHF grade 126.0%, DHF grade 2 63.0% and DHF grade 3 6.3%. Mean duration of fever clearance time was 6.0 ± 1.9 days but the fever lasted longer in cases of high-level transaminases (> 10 folds). The common presenting symptoms and signs were myalgia (95.9%), nausea/vomiting (87.7%), positive tourniquet test (77.2%), abdominal pain (42.7%), hepatomegaly (34.6%), and bleeding (20.5%). The ratio of AST and ALTwas 1.8:1. Abnormal AST and ALT were found in 88.2% and 69.3% of the patients, respectively. Patients with nausea/vomiting, petechiae or duration of fever > 7 days more frequently had abnormal transaminases. Abnormal AST during the febrile stage was associated with bleeding. High-level AST and ALT occurred in 11.0% and 7.0%, respectively. Shock was associated with high-level ALT during the febrile stage. Adult dengue patients commonly showed abnormal liver function tests and accounted for at least two-thirds of them. High-level ALT during the febrile stage showed association with shock.

  12. Clinical Evaluation of Tinnitus.

    PubMed

    Hertzano, Ronna; Teplitzky, Taylor B; Eisenman, David J

    2016-05-01

    The clinical evaluation of patients with tinnitus differs based on whether the tinnitus is subjective or objective. Subjective tinnitus is usually associated with a hearing loss, and therefore, the clinical evaluation is focused on an otologic and audiologic evaluation with adjunct imaging/tests as necessary. Objective tinnitus is divided into perception of an abnormal somatosound or abnormal perception of a normal somatosound. The distinction between these categories is usually possible based on a history, physical examination, and audiogram, leading to directed imaging to identify the underlying abnormality. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. HIV-associated anal dysplasia: experience from a multiethnic-HIV clinic in Hawaii.

    PubMed

    Payam, Ahoora; Shiramizu, Bruce; Shikuma, Cecilia; Milne, Cris; Terada, Kevin; Kajioka, Eric; Ka'opua, Lana Sue; Cassel, Kevin; Chow, Dominic

    2011-01-01

    To assess the proportion as well as predictors of anal dysplasia in HIV-infected Asian/Pacific Islanders. This was a retrospective chart review evaluating the proportion of anal dysplasia among a multiethnic population from an ambulatory university-based HIV clinic in Hawaii. Demographic, clinical, and virologic parameters were examined with respect to abnormal anal Pap smear. Variables included: Pap smear results (outcome variable), cytology results, age, self-reported ethnicity, CD4/ nadir CD4 counts, HIV viral load, antiretroviral therapy use, Hepatitis B and C co-infections, history of sexually transmitted diseases, personal history of cancer, tobacco use, alcohol use, intravenous drug abuse, family history of cancer, and history of genital/anal warts. There were no significant differences in rates of abnormal Pap smear among the ethnic groups. Abnormal Pap smears were associated with history of genital warts (7% normal vs. 18% abnormal, p=.01) and alcohol consumption (16% vs. 27%, p=.05). Hepatitis B infection and current anti-retroviral therapy (ART) were associated with normal Pap cytology (9.7% vs. 0%, p=.03) and (96.8% vs. 86.5%, p=.05) respectively. No differences in the proportion of abnormal Pap smears were seen among ethnic groups followed within an ambulatory HIV clinic.

  14. Clinical Findings Documenting Cellular and Molecular Abnormalities of Glia in Depressive Disorders

    PubMed Central

    Czéh, Boldizsár; Nagy, Szilvia A.

    2018-01-01

    Depressive disorders are complex, multifactorial mental disorders with unknown neurobiology. Numerous theories aim to explain the pathophysiology. According to the “gliocentric theory”, glial abnormalities are responsible for the development of the disease. The aim of this review article is to summarize the rapidly growing number of cellular and molecular evidences indicating disturbed glial functioning in depressive disorders. We focus here exclusively on the clinical studies and present the in vivo neuroimaging findings together with the postmortem molecular and histopathological data. Postmortem studies demonstrate glial cell loss while the in vivo imaging data reveal disturbed glial functioning and altered white matter microstructure. Molecular studies report on altered gene expression of glial specific genes. In sum, the clinical findings provide ample evidences on glial pathology and demonstrate that all major glial cell types are affected. However, we still lack convincing theories explaining how the glial abnormalities develop and how exactly contribute to the emotional and cognitive disturbances. Abnormal astrocytic functioning may lead to disturbed metabolism affecting ion homeostasis and glutamate clearance, which in turn, affect synaptic communication. Abnormal oligodendrocyte functioning may disrupt the connectivity of neuronal networks, while microglial activation indicates neuroinflammatory processes. These cellular changes may relate to each other or they may indicate different endophenotypes. A theory has been put forward that the stress-induced inflammation—mediated by microglial activation—triggers a cascade of events leading to damaged astrocytes and oligodendroglia and consequently to their dysfunctions. The clinical data support the “gliocentric” theory, but future research should clarify whether these glial changes are truly the cause or simply the consequences of this devastating disorder. PMID:29535607

  15. Abnormal Grief: Should We Consider a More Patient-Centered Approach?

    PubMed

    Moayedoddin, Babak; Markowitz, John C

    2015-01-01

    Grief, the psychological reaction to the loss of a significant other, varies complexly in its cause, experience, evolution, and prognosis. Although most bereaved individuals experience a normal grieving process, some develop complicated grief (CG) or major depressive disorder (MDD). The DSM-5, which controversially altered the nosology, recognizes grief-related major depression (GRMD) as a diagnostic subtype if a patient meets MDD criteria two weeks post bereavement. The (DSM-5) tries to distinguish between grief and MDD, but remains a symptom-based, centered approach to grief that is not patient centered. This article reviews grief in its normal and abnormal dimensions. Using an illustrative clinical case in which interpersonal psychotherapy (IPT) was employed, we discuss the need for a more patient-centered approach to treating abnormal grief, considering the patient's personal history, perceptions, experiences of bereavement, and interpersonal environment. Clinical studies need to better identify subgroups of individuals susceptible to abnormal grief and to evaluate their response to early interventions.

  16. Signs and symptoms of developmental abnormalities of the genitourinary tract.

    PubMed

    Nogueira, Paulo Cesar Koch; Paz, Isabel de Pádua

    2016-01-01

    The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD) in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract. Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature. The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a) combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations); (b) previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios); (c) clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction); and (d) pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment). The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  17. Mentally abnormal homicide in New Zealand as defined by legal and clinical criteria: a national study.

    PubMed

    Simpson, Alexander I F; Skipworth, Jeremy; McKenna, Brian; Moskowitz, Andrew; Barry-Walsh, Justin

    2006-09-01

    Homicides by people with mental illness have been studied using either clinical or legal categorization of the homicide as abnormal. No previous study has employed both definitions in the same population. A retrospective study of all homicides in New Zealand between 1988 and 2000 considered mentally abnormal homicide using a legal definition (when the courts deemed a contribution of mental illness was present) and a clinical definition (defined as the presence of a discharge diagnosis from inpatient mental health treatment) of 'mentally abnormal'. Rates, characteristics and time trends were investigated. Of the 844 cases, 7.1% met legal criteria for being mentally abnormal, while 7.7% had ever received a diagnosis for a psychotic illness, and a further 14.5% had been admitted to a psychiatric hospital for any other reason. The majority (60%) of perpetrators with a psychotic diagnosis received a mental health disposition from the court. Of these, 60% were first diagnosed with their psychotic illness prior to the homicide, while 28% were first diagnosed at the time of the offence and a further 12% after imprisonment. Of all those who received a psychotic diagnosis, 89% had post-conviction admissions or a mental health disposition. Legal and clinical definitions of mentally abnormal homicide detect similar rates of mentally abnormal homicide, but illustrate somewhat different dimensions of the relationship between mental illness and homicide.

  18. Joint ultrasound baseline abnormalities predict a specific long-term clinical outcome in systemic lupus erythematosus patients.

    PubMed

    Corzo, P; Salman-Monte, T C; Torrente-Segarra, V; Polino, L; Mojal, S; Carbonell-Abelló, J

    2017-06-01

    Objective To describe long-term clinical and serological outcome in all systemic lupus erythematosus (SLE) domains in SLE patients with hand arthralgia (HA) and joint ultrasound (JUS) inflammatory abnormalities, and to compare them with asymptomatic SLE patients with normal JUS. Methods SLE patients with HA who presented JUS inflammatory abnormalities ('cases') and SLE patients without HA who did not exhibit JUS abnormalities at baseline ('controls') were included. All SLE clinical and serological domain involvement data were collected. End follow-up clinical activity and damage scores (systemic lupus erythematosus disease activity index (SLEDAI), Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR)) were recorded. JUS inflammatory abnormalities were defined based on the Proceedings of the Seventh International Consensus Conference on Outcome Measures in Rheumatology Clinical Trials (OMERACT-7) definitions. Statistical analyses were carried out to compare 'cases' and 'controls'. Results A total of 35 patients were recruited. The 'cases', n = 18/35, had a higher incidence of musculoskeletal involvement (arthralgia and/or arthritis) through the follow-up period (38.9% vs 0%, p = 0.008) and received more hydroxychloroquine (61.1% vs 25.0%, p = 0.034) and methotrexate (27.8% vs 0%, p = 0.046) compared to 'controls', n = 17/35. Other comparisons did not reveal any statistical differences. Conclusions We found SLE patients with arthralgia who presented JUS inflammatory abnormalities received more hydroxychloroquine and methotrexate, mainly due to persistent musculoskeletal involvement over time. JUS appears to be a useful technique for predicting worse musculoskeletal outcome in SLE patients.

  19. Risk of Birth Abnormalities in the Offspring of Men With a History of Cancer: A Cohort Study Using Danish and Swedish National Registries

    PubMed Central

    Boyd, Heather A.; Giwercman, Aleksander; Lindholm, Morten; Jensen, Allan; Krüger Kjær, Susanne; Anderson, Harald; Cavallin-Ståhl, Eva; Rylander, Lars

    2011-01-01

    Background The potential mutagenic effects of cancer therapies and the growing number of young male cancer survivors have given rise to concern about the health of their offspring. Methods We identified all singleton children born alive in Denmark between 1994 and 2004 and in Sweden between 1994 and 2005 (n = 1 777 765). Of the 8670 children with a paternal history of cancer, 8162 were conceived naturally and 508 were conceived using assisted reproductive technologies (ARTs) (in vitro fertilization or intracytoplasmatic sperm injection). Of the 1 769 0795 children without a paternal history of cancer, 25 926 were conceived using ARTs. Associations between paternal history of cancer and risk of adverse birth outcomes of children conceived naturally or by ARTs were investigated using log-linear binomial models, yielding risk ratios (RRs) with 95% confidence intervals (CIs). All statistical tests were two-sided. Results The offspring of male cancer survivors were more likely to have major congenital abnormalities than the offspring of fathers with no history of cancer (RR = 1.17, 95% CI = 1.05 to 1.31, P = .0043, 3.7% vs 3.2%). However, the mode of conception (natural conception or ARTs) did not modify the association between paternal history of cancer and risk of congenital abnormalities (natural conception, RR = 1.17, 95% CI = 1.04 to 1.31; ARTs, RR = 1.22, 95% CI = 0.80 to 1.87, Pinteraction = .84). Conclusion We observed a statistically significant but modest increase in the risk of major congenital abnormalities among offspring of males with a history of cancer, independent of the mode of conception. PMID:21303994

  20. Abnormal dark-adapted electroretinogram in Best's vitelliform macular degeneration.

    PubMed

    Lachapelle, P; Quigley, M G; Polomeno, R C; Little, J M

    1988-10-01

    It is generally well accepted that in Best's vitelliform macular degeneration (BVMD) the electroretinogram (ERG) is normal whereas the electro-oculogram (EOG) is markedly abnormal. We describe a patient in whom BVMD was suspected on the basis of the clinical findings, EOG and family history (one of her daughters had the typical vitelliform lesion). However, her dark-adapted ERG was markedly abnormal. Similar anomalies were found in the dark-adapted ERG of the daughter. While the temporal features of the various ERG waves were well preserved, a substantial decrease in the amplitude of specific segments of the ERG signal was observed. A similar decrease in the amplitude of the oscillatory potentials was also found. We believe that this unusual combination of BVMD and abnormal dark-adapted ERG may be due to the reported reduced penetrance and variable expressivity of the BVMD gene(s).

  1. The medical management of abnormal uterine bleeding in reproductive-aged women.

    PubMed

    Bradley, Linda D; Gueye, Ndeye-Aicha

    2016-01-01

    In the treatment of women with abnormal uterine bleeding, once a thorough history, physical examination, and indicated imaging studies are performed and all significant structural causes are excluded, medical management is the first-line approach. Determining the acuity of the bleeding, the patient's medical history, assessing risk factors, and establishing a diagnosis will individualize their medical regimen. In acute abnormal uterine bleeding with a normal uterus, parenteral estrogen, a multidose combined oral contraceptive regimen, a multidose progestin-only regimen, and tranexamic acid are all viable options, given the appropriate clinical scenario. Heavy menstrual bleeding can be treated with a levonorgestrel-releasing intrauterine system, combined oral contraceptives, continuous oral progestins, and tranexamic acid with high efficacy. Nonsteroidal antiinflammatory drugs may be utilized with hormonal methods and tranexamic acid to decrease menstrual bleeding. Gonadotropin-releasing hormone agonists are indicated in patients with leiomyoma and abnormal uterine bleeding in preparation for surgical interventions. In women with inherited bleeding disorders all hormonal methods as well as tranexamic acid can be used to treat abnormal uterine bleeding. Women on anticoagulation therapy should consider using progestin-only methods as well as a gonadotropin-releasing hormone agonist to treat their heavy menstrual bleeding. Given these myriad options for medical treatment of abnormal uterine bleeding, many patients may avoid surgical intervention. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. [Abnormal cervicovaginal cytology in women with rheumatoid arthritis].

    PubMed

    Mercado, Ulises

    2010-02-01

    Patients with rheumatoid arthritis (RA) are at increased risk of infections and cancer. A link between RA and abnormal cervicovaginal cytology has rarely been reported. The aim of this study was to review cervicovaginal cytology results in women with RA and compare them with a control population. Sexual behavior also was investigated. Cervicovaginal cytology results of 95 women with RA were compared to those of a control population of 1,719 women attending at the same hospital and followed until June 2009. Records of RA patients were reviewed to obtain clinical data, particularly sexual behavior. Of 95 RA patients, 13/95 had an abnormal cervicovaginal cytology result, compared with 120/1,719 controls. Twelve/13 had squamous intraepithelial lesions (SIL), compared with 27/120 controls. There was no significant difference in sexual partners between women with RA and controls. Women with RA without abnormal cervicovaginal cytology had less sexual partners than those with RA and abnormal cytology. Two women with RA and abnormal cervicovaginal cytology had a history of condylomata and herpes genital. Three/13 women with RA developed abnormal cervicovaginal cytology after 12 to 36 months initiating their illness. None from them had ever received immunosuppressants. Women with RA have an increased prevalence of abnormal cervical cytology, compared with a control population. It may be related to chronic inflammatory disease and sexual behavior.

  3. Long-term neuromuscular outcomes of west nile virus infection: A clinical and electromyographic evaluation of patients with a history of infection.

    PubMed

    Athar, Parveen; Hasbun, Rodrigo; Nolan, Melissa S; Salazar, Lucrecia; Woods, Steven P; Sheikh, Kazim; Murray, Kristy O

    2018-01-01

    Neuromuscular clinical manifestations during acute West Nile virus (WNV) infection are well documented; however, long-term neurologic outcomes still require investigation. We conducted a long-term follow-up study in patients with history of WNV infection. Of the 117 patients who participated in neurologic and neurocognitive evaluations, 30 were referred for neuromuscular and electrodiagnostic evaluation based on abnormal findings. We found that 33% of these patients (10 of 30) showed abnormalities on nerve conduction and/or needle electromyography due to primary or secondary outcomes of WNV infection. Most common electrodiagnostic findings and causes of long-term disability were related to anterior horn cell poliomyelitis (WNV poliomyelitis). Electrical data on these patient populations were similar to those observed in chronic poliomyelitis. With more than 16,000 cases of WNV neuroinvasive disease reported across the USA since 1999, understanding clinical outcomes from infection will provide a resource for physicians managing long-term care of these patients. Muscle Nerve 57: 77-82, 2018. © 2017 Wiley Periodicals, Inc.

  4. Psychotherapeutics and the problematic origins of clinical psychology in America.

    PubMed

    Taylor, E

    2000-09-01

    The problematic place of psychotherapy within the larger history of scientific psychology is reviewed, especially in the absence of any definitive history of clinical psychology yet written. Although standard histories of psychology imply that psychotherapy was somehow derived from the tradition of German laboratory science, modern historiography reveals a dramatically different story. Personality, abnormal, social, and clinical psychology have their roots in an international psychotherapeutic alliance related more to French neurophysiology, and this alliance flourished for several decades before psychoanalysis. Reconstruction of the American contribution to this alliance, the so-called Boston school of abnormal psychology, suggests an era of medical psychology in advance of today. Note is also made of the possible misattribution of Lightner Witmer as the father of clinical psychology.

  5. Abnormal hepatic biochemistries and clinical liver disease in patients with primary Sjögren's syndrome.

    PubMed

    Montaño-Loza, Aldo J; Crispín-Acuña, José Carlos; Remes-Troche, José María; Uribe, Misael

    2007-01-01

    Patients with primary Sjögren's syndrome may present liver involvement. Our goals were to establish the prevalence of abnormal hepatic biochemistries and clinical liver disease in patients with primary Sjögren's syndrome and correlate their presence with other clinical and laboratory features. Ninety-five patients with diagnosis of primary Sjögren's syndrome were studied. Data on gender, age, clinical features, liver biochemistries, tests of inflammation and autoimmunity, and concomitant diseases were collected. Forty-two patients (44%) had abnormal hepatic biochemistries, and of these 19 patients (20%) had clinical liver disease. Patients with abnormal hepatic biochemistries had higher frequency of autoimmune hypotiroidism, arthritis, vasculitis, Raynaud's phenomenon, higher sedimentation rate,and higher frequency of antinuclear and antimitochondrial antibodies than patients with normal liver biochemistries (P < 0.05 for each). Patients with clinical liver disease had higher frequency of arthritis, vasculitis, and higher frequency of antimitochondrial antibodies than patients without clinical liver disease (P < 0.05 for each). Twenty-one patients had diagnosis of a specific liver disease, such as hepatitis C virus infection (n = 11), autoimmune hepatitis (n = 2), primary biliary cirrhosis (n =5),nonalcoholic fatty liver disease (n = 2), and hepatitis B virus infection (n = 1). In half of patients with liver involvement a definitive cause could not be identified. Liver involvement is frequently found in patients with primary Sjögren's syndrome, and its presence is associated with clinical features of systemic disease, and markers of autoimmunity and inflammation. There may be a subgroup of patients with liver involvement secondary to primary Sjögren's syndrome.

  6. Selective mutism and abnormal electroencephalography (EEG) tracings.

    PubMed

    Politi, Keren; Kivity, Sara; Goldberg-Stern, Hadassa; Halevi, Ayelet; Shuper, Avinoam

    2011-11-01

    Epileptic discharges are not considered a part of the clinical picture of selective mutism, and electroencephalography is generally not recommended in its work-up. This report describes 6 children with selective mutism who were found to have a history of epilepsy and abnormal interictal or subclinical electroencephalography recordings. Two of them had benign epilepsy of childhood with centro-temporal spikes. The mutism was not related in time to the presence of active seizures. While seizures could be controlled in all children by medications, the mutism resolved only in 1. Although the discharges could be coincidental, they might represent a co-morbidity of selective mutism or even play a role in its pathogenesis. Selective mutism should be listed among the psychiatric disorders that may be associated with electroencephalographic abnormalities. It can probably be regarded as a symptom of a more complicated organic brain disorder.

  7. [The clinical features and natural history of post-transfusion hepatitis C].

    PubMed

    Chong, Yu-tian; Lin, Chao-shuang; Zhao, Zhi-xin; Lin, Guo-li; Li, Jian-guo; Gao, Zhi-liang

    2006-03-01

    To study the clinical features and natural history of post-transfusion hepatitis C (PTHC). Ninety-nine post-transfusion hepatitis C patients were analyzed using retrospective and prospective study and follow-up. (1) Ninety-nine post-transfusion HCV patients were infected during 1989-1994, mostly between 1990-1992. (2) Ninety patients were diagnosed as chronic hepatitis C, and 9 as hepatic cirrhosis (period of compensation). (3) The intervals between their transfusions and their initial diagnoses of PTHC were 7.4+/-6.6 years in all 99 patients, and the intervals in 9 cirrhosis patients were 12.7+/-5.8 years. (4) Among 63 male patients, 59 cases were chronic hepatitis C and 4 were cirrhosis while among 36 female patients, 31 were chronic hepatitis C and 5 were cirrhosis. There was no significant difference of the ratio for hepatitis C and cirrhosis between the male and female patients (P>0.05). (5) Repeat abnormal liver function occurred accompanied with a fluctuation of ALT elevation in those patients with cirrhosis. (6) No patient developed hepatic carcinoma during the study period. (1) The possibility of HCV infection by transfusion has declined greatly since 1995 in Guangzhou. (2) Nine of the 99 (9.1%) chronic HCV-infected patients developed a compensated cirrhosis after 12.7+/-5.8 years. (3) For those PTHC patients with repeat abnormal liver functions, interferon combined with ribavirin is recommended to prevent the development of cirrhosis.

  8. [Abnormality of blood coagulation indexes in patients with de novo acute leukemia and its clinical significance].

    PubMed

    Xiao, Fang-Fang; Hu, Kai-Xun; Guo, Mei; Qiao, Jian-Hui; Sun, Qi-Yun; Ai, Hui-Sheng; Yu, Chang-Lin

    2013-04-01

    To explore hemorrhage risk and the clinical significance of abnormal change of prothrombin time (PT), activated partial thromboplastin time (APTT), plasma fibrinogen (FIB), plasma thrombin time (TT) and d-dimer (D-D) in de novo acute leukemia (except for APL), the different bleeding manifestations of 114 cases of de novo acute leukemia with different coagulation indexes were analyzed retrospectively. The correlation between these blood coagulation indexes and the possible correlative clinical characteristics were analysed, including age, sex, type of acute leukemia, initial white blood cell(WBC) and platelet(Plt) count, the proportion of blast cells in bone marrow and cytogenetic abnormality of patients at diagnosis. The results indicated that the incidence of abnormal blood coagulation was as high as 78.1% for de novo AL patients. These patients with 5 normal blood coagulation indexes may have mild bleeding manifestation, but the more abnormal indexes, the more severe bleeding. Both PT and D-D were sensitive indexes for diagnosis of level II bleeding. Incidence of abnormal blood coagulation significantly correlates with the proportion of blast cells in bone marrow (χ(2) = 4.184, OR = 1.021, P < 0.05) and more with D-D (P < 0.01), while age, sex, type of AL, WBC count, Plt count and abnormality of cytogenetics did not correlate with abnormal blood coagulation. It is concluded that the coagulation and fibrinolysis are abnormal in most patients with de novo acute leukemia. More abnormal indexes indicate more severe bleeding, and both PT and D-D are sensitive indexes for diagnosis of level II bleeding. Higher proportion of blast cells in bone marrow predicts higher incidence of abnormal blood clotting. Acute leukemia with elderly age, high white blood cell count and adverse cytogenetics do not predict severer abnormal blood clotting. Detection of PT, APTT, TT, FIB, and D-D may help to judge whether the patients are in a state of hypercoagulability or disseminated

  9. [X-ray computed tomographic abnormalities in schizophrenia. Trial of relationship with clinical data].

    PubMed

    D'Amato, T; Rochet, T; Dalery, J; Chauchat, J H; Terra, J L; Arteaga, C; Marie-Cardine, M

    1992-01-01

    Computerized tomography (CT-scan) studies in schizophrenia revealed that some patients have neuromorphological abnormalities. The structural changes consist mainly in lateral and third ventricle enlargement, and in cortical atrophy. The present study evaluates these three changes in 42 schizophrenics aged 18 to 50, compared to 24 healthy controls. Diagnosis were established from information gathered by personal interview with the SADS-LA. Clinical sub-types were evaluated according to the DSM III-R criteria. Moreover, detailed symptoms were rated according to the Positive And Negative Syndrome Scale (PANSS). CT scans were recorded in floppy disks and blindly analyzed. Schizophrenics shown significant higher mean size of lateral and third ventricles, and higher mean anterior cortical atrophy than healthy subjects. Significant differences were also found between subtypes, with more marked abnormalities in the disorganized group. The relationship between brain abnormalities and clinical symptoms recorded with the PANSS, were analysed using Pearson correlates. Positive correlations concerned mainly negative symptoms like blunted affect, emotional withdrawal, difficulties in abstract thinking, passive apathetic social withdrawal and lack of spontaneity of conversation. Positive correlations are also observed with some symptoms classified with the PANSS in the General Psychopathology scale such as mannerism and disorientation. Negative correlation concerned most of PANSS positive symptoms.

  10. The value of Bayes' theorem for interpreting abnormal test scores in cognitively healthy and clinical samples.

    PubMed

    Gavett, Brandon E

    2015-03-01

    The base rates of abnormal test scores in cognitively normal samples have been a focus of recent research. The goal of the current study is to illustrate how Bayes' theorem uses these base rates--along with the same base rates in cognitively impaired samples and prevalence rates of cognitive impairment--to yield probability values that are more useful for making judgments about the absence or presence of cognitive impairment. Correlation matrices, means, and standard deviations were obtained from the Wechsler Memory Scale--4th Edition (WMS-IV) Technical and Interpretive Manual and used in Monte Carlo simulations to estimate the base rates of abnormal test scores in the standardization and special groups (mixed clinical) samples. Bayes' theorem was applied to these estimates to identify probabilities of normal cognition based on the number of abnormal test scores observed. Abnormal scores were common in the standardization sample (65.4% scoring below a scaled score of 7 on at least one subtest) and more common in the mixed clinical sample (85.6% scoring below a scaled score of 7 on at least one subtest). Probabilities varied according to the number of abnormal test scores, base rates of normal cognition, and cutoff scores. The results suggest that interpretation of base rates obtained from cognitively healthy samples must also account for data from cognitively impaired samples. Bayes' theorem can help neuropsychologists answer questions about the probability that an individual examinee is cognitively healthy based on the number of abnormal test scores observed.

  11. Impact of clinical history on chest radiograph interpretation.

    PubMed

    Test, Matthew; Shah, Samir S; Monuteaux, Michael; Ambroggio, Lilliam; Lee, Edward Y; Markowitz, Richard I; Bixby, Sarah; Diperna, Stephanie; Servaes, Sabah; Hellinger, Jeffrey C; Neuman, Mark I

    2013-07-01

    The inclusion of clinical information may have unrecognized influence in the interpretation of diagnostic testing. The objective of the study was to determine the impact of clinical history on chest radiograph interpretation in the diagnosis of pneumonia. Prospective case-based study. Radiologists interpreted 110 radiographs of children evaluated for suspicion of pneumonia. Clinical information was withheld during the first interpretation. After 6 months the radiographs were reviewed with clinical information. Radiologists reported on pneumonia indicators described by the World Health Organization (ie, any infiltrate, alveolar infiltrate, interstitial infiltrate, air bronchograms, hilar adenopathy, pleural effusion). Children's Hospital of Philadelphia and Boston Children's Hospital. Six board-certified radiologists. Inter- and inter-rater reliability were assessed using the kappa statistic. The addition of clinical history did not have a substantial impact on the inter-rater reliability in the identification of any infiltrate, alveolar infiltrate, interstitial infiltrate, pleural effusion, or hilar adenopathy. Inter-rater reliability in the identification of air bronchograms improved from fair (k = 0.32) to moderate (k = 0.53). Intra-rater reliability for the identification of alveolar infiltrate remained substantial to almost perfect for all 6 raters with and without clinical information. One rater had a decrease in inter-rater reliability from almost perfect (k = 1.0) to fair (k = 0.21) in the identification of interstitial infiltrate with the addition of clinical history. Alveolar infiltrate and pleural effusion are findings with high intra- and inter-rater reliability in the diagnosis of bacterial pneumonia. The addition of clinical information did not have a substantial impact on the reliability of these findings. © 2012 Society of Hospital Medicine.

  12. Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes.

    PubMed

    Arafa, Mohamed M; Majzoub, Ahmad; AlSaid, Sami S; ElAnsari, Walid; Al Ansari, Abdulla; Elbardisi, Yara; Elbardisi, Haitham T

    2018-03-01

    To study the types and incidence of chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar, and to compare the hormonal changes, testicular sperm retrieval rate, and intracytoplasmic sperm injection (ICSI) outcome between patients with chromosomal abnormalities and patients with idiopathic infertility. This study involved the retrospective chart review of 625 infertile male patients attending an academic tertiary medical centre in Qatar. Retrieved information included data on medical history, family history, clinical examination, semen analysis, initial hormonal profiles, and genetic studies, ICSI, and sperm retrieval results. The incidence of chromosomal abnormalities was 9.59% (10.6% amongst Qatari patients, 9.04% amongst non-Qataris). About 63.6% of the sample had azoospermia, of whom 10.8% had chromosomal abnormalities. Roughly 36.4% of the sample had oligozoospermia, of whom 7.5% had chromosomal abnormalities. There were no differences between patients with chromosomal abnormalities and those with idiopathic infertility for demographic and infertility features; but for the hormonal profiles, patients with idiopathic infertility had significantly lower luteinising hormone and follicle-stimulating hormone values. For ICSI outcomes, patients with chromosomal abnormalities had a significantly lower total sperm retrieval rate (47.4% vs 65.8%), surgical sperm retrieval rate (41.2% vs 58.1%), and lower clinical pregnancy rate (16.7% vs 26.6%) when compared to the idiopathic infertility group. The incidence of chromosomal abnormalities in Qatar as a cause of severe male infertility is within a similar range as their prevalence internationally.

  13. [Factors associated with abnormal cervical cytology in pregnant women].

    PubMed

    Fan, Ling; Zou, Li-ying; Wu, Yu-mei; Zhang, Wei-yuan

    2010-02-01

    To investigate the risk factors associated with abnormal cervical cytology findings in pregnant women. From Sep. 2007 to Sep. 2008, 12,112 pregnant women who underwent their antenatal examinations at 12-36 gestational weeks in Beijing Obstetrics and Gynecology Hospital were enrolled in this study. They were all excluded from the following pathologic obstetrics factors including threatened abortion, premature rupture of membranes or placental previa. Thinprep cytology test (TCT) were given at their first examination, meanwhile, a personal clinic file was established to record her occupation, education, address, family income, nationality, age of first intercourse, number of sex partners, contraception, marriage and pregnancy, current gynecologic diseases, family history of gynecologic tumors, history of gynecologic diseases and smoking and result of pelvic examination. Those risk factors leading to abnormal cervical cytology were analyzed. The complete clinical data were collected from 11 906 cases (98.30%, 11,906/12,112). It was found that 10,354 women were shown with normal TCT result, however, 1134 women (9.52%, 1134/11,906) with atypical squamous cells of undetermined significance (ASCUS), 112 women (0.94%, 112/11,906) with atypical glandular cells of undetermined significance (AGUS), 229 women (1.92%, 229/11,906) with low grade squamous intraepithelial (LSIL), 74 women (0.62%, 74/11,906) with high grade squamous intraepithelial (HSIL). Multiple factorial non-conditioned logistic regression analysis showed that age of first sexual intercourse (OR(ASCUS) = 2.90, OR(AGUS) = 7.32), number of sex partners (OR(ASCUS) = 1.49, OR(AGUS) = 2.02), number of abortion (OR(ASCUS) = 1.68, OR(AGUS) = 3.50) were correlated with ASCUS and AGUS. In LSIL group and HSIL group, age of first sexual intercourse (OR(LSIL) = 6.34, OR(HSIL) = 9.26), number of sex partners (OR(LSIL) = 1.69, OR(HSIL) = 1.65), number of abortion (OR(LSIL) = 1.53, OR(HSIL) = 5.33), smoking (OR(LSIL) = 1

  14. Medical History as an Introduction to Clinical Reasoning.

    ERIC Educational Resources Information Center

    Maulitz, Russell C.; And Others

    1983-01-01

    An elective course in the history of medicine focuses on clinical thinking using the case study method. Course goals include: student recognition of clinical reasoning as a historical process; understanding of distinctions between disease categories and etiological frameworks; and different conceptualizations (etiological and syndromic) of…

  15. Hematologic and Biochemical Values of Wild Red-Tailed Amazon Parrot (Amazona brasiliensis) Nestlings With Abnormal Clinical Examination in Rasa Island, Brazil.

    PubMed

    Vaz, Frederico Fontanelli; Locatelli-Dittrich, Rosangela; Beltrame, Olair Carlos; Sipinski, Elenise Angelotti Bastos; Abbud, Maria Cecília; Sezerban, Rafael Meirelles

    2016-12-01

    The red-tailed Amazon parrot (Amazona brasiliensis) is an endangered psittacine species, but little information is available about abnormal clinical findings and hematologic and biochemical values of this species, which are important for monitoring the health of this population. To determine hematologic and biochemical values for wild red-tailed parrot nestlings exhibiting abnormal clinical findings, 31 nestlings from the Rasa Island (Paraná State, Southern Brazil) were physically restrained for clinical examination and blood sample collection. On physical examination, 26 birds had mild abnormalities and 5 had severe disorders. Parrots were divided into 5 groups according to the following clinical findings: presence of ectoparasites (group 1), respiratory disorders (group 2), chronic skin lesions caused by fly larvae (group 3), beak disorders (group 4), and severe clinical signs (group 5). Abnormal hematologic and biochemical findings in the nestlings were high total protein in group 3; low values for hemoglobin and mean corpuscular hemoglobin concentration in group 4; low glucose concentration, high mean absolute heterophil count, and high heterophil : lymphocyte ratio in group 5; high concentrations of total plasma protein in groups 3 and 4; and high globulin concentration in groups 3 and 5. In general, the population assessed was in good condition. These results provide a guide to the expected clinical findings associated with hematologic and biochemical concentrations in a population of free-living parrots with abnormal clinical examination findings. The data support the conservation planning and health monitoring of the endangered red-tailed Amazon parrot.

  16. Role of family history for Alzheimer biomarker abnormalities in the adult children study

    PubMed Central

    Xiong, Chengjie; Roe, Catherine M.; Buckles, Virginia; Fagan, Anne; Holtzman, David; Balota, David; Duchek, Janet; Storandt, Martha; Mintun, Mark; Grant, Elizabeth; Snyder, Abraham Z.; Head, Denise; Benzinger, Tammie L.S.; Mettenburg, Joseph; Csernansky, John; Morris, John C.

    2012-01-01

    Objective To assess whether family history (FH) of Alzheimer’s disease (AD) alone influences AD biomarker abnormalities. Design Adult Children Study (ACS). Setting Washington University's Knight Alzheimer's Disease Research Center. Participants Cognitively normal middle to older age individuals with and without a FH for AD (n=269). Main Outcome Measures Clinical and cognitive measures, magnetic resonance imaging (MRI)-based brain volumes, diffusion tensor imaging (DTI)-based white matter microstructure, cerebrospinal fluid (CSF) biomarkers, and molecular imaging of cerebral fibrillar amyloid with positron emission tomography (PET) using the [11C] benzothiazole tracer, Pittsburgh Compound-B (PIB). Results A positive FH for AD was associated with an age-related decrease of CSF Aβ42; the ε4 allele of apolipoprotein E (APOE4) did not alter this effect. Age-adjusted CSF Aβ42 was decreased for individuals with APOE4 compared with those without, and the decrease was larger for individuals with a positive FH compared with those without. The variation of CSF tau and PIB mean cortical binding potential (MCBP) increased by age. For individuals younger than 55, an age-related increase in MCBP was associated with APOE4, but not FH. For individuals older than 55, a positive FH and a positive APOE4 implied the fastest age-related increase in MCBP. A positive FH was associated with decreased fractional anisotropy from DTI in the genu and splenium of the corpus callosum. Conclusion Independent of APOE4, FH is associated with age-related change of several CSF, PIB and DTI biomarkers in cognitively normal middle to older age individuals, suggesting that non-APOE susceptibility genes for AD influence AD biomarkers. PMID:21987546

  17. [Abnormal vaginal secretion: sensitivity, specificity and concordance between clinical and cytological diagnosis].

    PubMed

    de Camargo, Kélvia Cristina; Alves, Rosane Ribeiro Figueiredo; Baylão, Luciano Augusto; Ribeiro, Andrea Alves; Araujo, Nadja Lindany Alves de Souza; Tavares, Suelene Brito do Nascimento; dos Santos, Sílvia Helena Rabelo

    2015-05-01

    To estimate the prevalence of bacterial vaginosis (BV), candidiasis and trichomoniasis and compare the findings of physical examination of the vaginal secretion with the microbiological diagnosis obtained by cytology study of a vaginal smear using the Papanicolaou method. A cross-sectional study of 302 women aged 20 to 87 years, interviewed and submitted to a gynecology test for the evaluation of vaginal secretion and collection of a cytology smear, from June 2012 to May 2013. Sensitivity analyses were carried out and specificity, positive predictive value (PPV) and negative predictive value (NPV) with their respective 95%CI were determined to assess the accuracy of the characteristics of vaginal secretion in relation to the microbiological diagnosis of the cytology smear . The kappa index (k) was used to assess the degree of agreement between the clinical features of vaginal secretion and the microbiological findings obtained by cytology. RESULTS The prevalence of BV, candidiasis and trichomoniasis was 25.5, 9.3 and 2.0%, respectively. The sensitivity, specificity, PPV and NPV of the clinical characteristics of vaginal secretion for the cytological diagnosis of BV were 74, 78.6, 54.3 and 89.9%, respectively. The sensitivity, specificity, PPV and the NPV of the clinical characteristics of vaginal secretion for the cytological diagnosis of candidiasis were 46.4, 86.2, 25.5 and 94%, respectively. The correlation between the clinical evaluation of vaginal secretion and the microbiological diagnosis of BV, candidiasis and trichomoniasis, assessed by the kappa index, was 0.47, 0.23 and 0.28, respectively. CONCLUSION The most common cause of abnormal vaginal secretion was BV. The clinical evaluation of vaginal secretion presented amoderate to weak agreement with the microbiological diagnosis, indicating the need for complementary investigation of the clinical findings of abnormal vaginal secretion.

  18. Influence of History of Brain Disease or Brain Trauma on Psychopathological Abnormality in Young Male in Korea : Analysis of Multiphasic Personal Inventory Test

    PubMed Central

    Paik, Ho Kyu; Oh, Chang-Hyun; Choi, Kang; Kim, Chul-Eung; Yoon, Seung Hwan

    2011-01-01

    Objective The purpose of this study is to confirm whether brain disease or brain trauma actually affect psychopathology in young male group in Korea. Methods The authors manually reviewed the result of Korean military multiphasic personal inventory (KMPI) in the examination of conscription in Korea from January 2008 to May 2010. There were total 237 young males in this review. Normal volunteers group (n=150) was composed of those who do not have history of brain disease or brain trauma. Brain disease group (n=33) was consisted of those with history of brain disease. Brain trauma group (n=54) was consisted of those with history of brain trauma. The results of KMPI in each group were compared. Results Abnormal results of KMPI were found in both brain disease and trauma groups. In the brain disease group, higher tendencies of faking bad response, anxiety, depression, somatization, personality disorder, schizophrenic and paranoid psychopathy was observed and compared to the normal volunteers group. In the brain trauma group, higher tendencies of faking-good, depression, somatization and personality disorder was observed and compared to the normal volunteers group. Conclusion Young male with history of brain disease or brain trauma may have higher tendencies to have abnormal results of multiphasic personal inventory test compared to young male without history of brain disease or brain trauma, suggesting that damaged brain may cause psychopathology in young male group in Korea. PMID:22053230

  19. Changes in functional connectivity of the brain associated with a history of sport concussion: A preliminary investigation.

    PubMed

    Churchill, Nathan; Hutchison, Michael G; Leung, General; Graham, Simon; Schweizer, Tom A

    2017-01-01

    There is evidence of long-term clinical consequences associated with a history of sport concussion. However, there remains limited information about the underlying changes in brain function. The goal of this study was to identify brain regions where abnormal resting-state function is associated with chronic concussion, for athletes without persistent symptoms. Functional Magnetic Resonance Imaging (fMRI) was performed on a group of athletes with prior concussion (n = 22) and a group without documented injury (n = 21). Multivariate predictive modelling was used to localize reliable changes in brain connectivity that are associated with a history of concussion and with clinical factors, including number of prior concussions and recovery time from last injury. No significant differences were found between athletes with and without a history of concussion, but functional connectivity was significantly associated with clinical history. The number of prior concussions was associated with most extensive connectivity changes, particularly for elements of the visual attention network and cerebellum. The findings of this preliminary study indicate that functional brain abnormalities associated with chronic concussion may be significantly dependent on clinical history. In addition, elements of the visual and cerebellar systems may be most sensitive to the long-term effects of sport concussion.

  20. Long term safety of methotrexate in routine clinical care: discontinuation is unusual and rarely the result of laboratory abnormalities

    PubMed Central

    Yazici, Y; Sokka, T; Kautiainen, H; Swearingen, C; Kulman, I; Pincus, T

    2005-01-01

    Objective: To analyse patients with rheumatoid arthritis, treated with methotrexate in a weekly academic rheumatology clinic over 13 years, for continuation of courses and reasons for discontinuation. Methods: All 248 patients with an analysable longitudinal course who took methotrexate in standard care between 1990 and 2003 were studied. Continuation of courses was analysed using life tables. All abnormal and severely abnormal values for aspartate aminotransferase (AST) >40 U/l, >80 U/l, albumin <35 g/l, <30 g/l, white blood cell (WBC) count <4.0x109/l, <3.0x109/l, and platelet count <150x109/l, <100x109/l, were identified. Responses of the clinician and subsequent laboratory values were reviewed. Results: Over 1007 person-years, the probability of continuing methotrexate over five years was 79% (95% confidence interval, 72% to 84%). Severe laboratory abnormalities occurred in 2.9 per 100 person-years, specifically 0.9 for AST >80 U/l, 1.1 for albumin <30 g/l, 0.7 for WBC <3.0x109/l, and 0.3 for platelets <100x109/l. No severe laboratory abnormality progressed to further severity or clinical disease. Permanent discontinuations of methotrexate occurred in 46 patients (19%), 26 (10% of all patients) for adverse effects, 15 (32.6%) for inefficacy; only two discontinuations resulted from laboratory abnormalities, both of WBC, possibly from other sources. Conclusions: Methotrexate was associated with a high rate of continuation, and few clinically significant laboratory abnormalities. Discontinuation primarily reflected clinical rather than laboratory findings. Vigilance for methotrexate toxicity is required but methotrexate appears among the safest treatments for rheumatoid arthritis. PMID:15208176

  1. Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

    PubMed

    Aleman, Tomas S; Han, Grace; Serrano, Leona W; Fuerst, Nicole M; Charlson, Emily S; Pearson, Denise J; Chung, Daniel C; Traband, Anastasia; Pan, Wei; Ying, Gui-Shuang; Bennett, Jean; Maguire, Albert M; Morgan, Jessica I W

    2017-03-01

    To describe in detail the central retinal structure of a large group of patients with choroideremia (CHM). A prospective, cross-sectional, descriptive study. Patients (n = 97, age 6-71 years) with CHM and subjects with normal vision (n = 44; ages 10-50 years) were included. Subjects were examined with spectral-domain optical coherence tomography (SD OCT) and near-infrared reflectance imaging. Visual acuity (VA) was measured during their encounter or obtained from recent ophthalmic examinations. Visual thresholds were measured in a subset of patients (n = 24) with automated static perimetry within the central regions (±15°) examined with SD OCT. Visual acuity and visual thresholds; total nuclear layer, inner nuclear layer (INL), and outer nuclear layer (ONL) thicknesses; and horizontal extent of the ONL and the photoreceptor outer segment (POS) interdigitation zone (IZ). Earliest abnormalities in regions with normally appearing retinal pigment epithelium (RPE) were the loss of the POS and ellipsoid zone associated with rod dysfunction. Transition zones (TZs) from relatively preserved retina to severe ONL thinning and inner retinal thickening moved centripetally with age. Most patients (88%) retained VAs better than 20/40 until their fifth decade of life. The VA decline coincided with migration of the TZ near the foveal center. There were outer retinal tubulations in degenerated, nonatrophic retina in the majority (69%) of patients. In general, RPE abnormalities paralleled photoreceptor degeneration, although there were regions with detectable but abnormally thin ONL co-localizing with severe RPE depigmentation and choroidal thinning. Abnormalities of the POS and rod dysfunction are the earliest central abnormalities observed in CHM. Foveal function is relatively preserved until the fifth decade of life. Migration of the TZs to the foveal center with foveal thinning and structural disorganization heralded central VA loss. The relationships established may help

  2. Risk Factors for Abnormal Anal Cytology over Time in HIV-infected Women

    PubMed Central

    BARANOSKI, Amy S; TANDON, Richa; WEINBERG, Janice; HUANG, Faye; STIER, Elizabeth A

    2012-01-01

    Objectives To assess incidence of, and risk factors for abnormal anal cytology and anal intraepithelial neoplasia (AIN) 2–3 in HIV-infected women. Study Design This prospective study assessed 100 HIV-infected women with anal and cervical specimens for cytology and high risk HPV testing over three semi-annual visits. Results Thirty-three women were diagnosed with an anal cytologic abnormality at least once. Anal cytology abnormality was associated with current CD4 count <200 cells/mm3, anal HPV infection and history of other sexually transmitted infections (STIs). Twelve subjects were diagnosed with AIN2-3: four after AIN1 diagnosis and four after ≥1 negative anal cytology. AIN2-3 trended towards an association with history of cervical cytologic abnormality and history of STI. Conclusions Repeated annual anal cytology screening for HIV-infected women, particularly for those with increased immunosuppression, anal and/or cervical HPV, history of other STIs, or abnormal cervical cytology, will increase the likelihood of detecting AIN2-3. PMID:22520651

  3. Abnormal pressure in hydrocarbon environments

    USGS Publications Warehouse

    Law, B.E.; Spencer, C.W.

    1998-01-01

    Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.

  4. Clinical prediction of fall risk and white matter abnormalities: a diffusion tensor imaging study

    USDA-ARS?s Scientific Manuscript database

    The Tinetti scale is a simple clinical tool designed to predict risk of falling by focusing on gait and stance impairment in elderly persons. Gait impairment is also associated with white matter (WM) abnormalities. Objective: To test the hypothesis that elderly subjects at risk for falling, as deter...

  5. Rates of abnormalities and infectious agents in cervical smears from female inmates in Texas: comparison with private and university clinic patients.

    PubMed

    Logrono, R; Wong, J Y

    1999-09-01

    Inmates are generally considered a high-risk population for gynecologic neoplasia and sexually transmitted diseases. Cervical smears from prisoners of the Texas Department of Corrections (TDC) were expected initially to have higher rates of cellular abnormalities and infectious agents than do smears from the general population. The cytologic findings from 25,522 TDC gynecologic smears were compared with those of 6883 cases from The University of Texas Medical Branch (UTMB) affiliated physician private clinics, and with 56,178 from the UTMB hospital clinics. The period of study was from September 1995 to February 1998. This study revealed a 5.23% higher rate of abnormalities for TDC gynecologic smears as compared with that for the private clinic smears. However, the TDC rate of abnormalities was unexpectedly 1.08% lower than that for the UTMB clinic smears. These unexpected findings were probably the result of a more selected high-risk population referred to the UTMB clinics. The TDC smears showed also the highest incidence of trichomoniasis.

  6. [Genetic diagnostics of pathogenic splicing abnormalities in the clinical laboratory--pitfalls and screening approaches].

    PubMed

    Niimi, Hideki; Ogawa, Tomomi; Note, Rhougou; Hayashi, Shirou; Ueno, Tomohiro; Harada, Kenu; Uji, Yoshinori; Kitajima, Isao

    2010-12-01

    In recent years, genetic diagnostics of pathogenic splicing abnormalities are increasingly recognized as critically important in the clinical genetic diagnostics. It is reported that approximately 10% of pathogenic mutations causing human inherited diseases are splicing mutations. Nonetheless, it is still difficult to identify splicing abnormalities in routine genetic diagnostic settings. Here, we studied two different kinds of cases with splicing abnormalities. The first case is a protein S deficiency. Nucleotide analyses revealed that the proband had a previously reported G to C substitution in the invariant AG dinucleotide at the splicing acceptor site of intronl/exon2, which produces multiple splicing abnormalities resulting in protein S deficiency. The second case is an antithrombin (AT) deficiency. This proband had a previously reported G to A substitution, at nucleotide position 9788 in intron 4, 14 bp in front of exon 5, which created a de novo exon 5 splice site and resulted in AT deficiency. From a practical standpoint, we discussed the pitfalls, attentions, and screening approaches in genetic diagnostics of pathogenic splicing abnormalities. Due to the difficulty with full-length sequence analysis of introns, and the lack of RNA samples, splicing mutations may escape identification. Although current genetic testing remains to be improved, to screen for splicing abnormalities more efficiently, it is significant to use an appropriate combination of various approaches such as DNA and/or RNA samples, splicing mutation databases, bioinformatic tools to detect splice sites and cis-regulatory elements, and in vitro and/or in vivo experimentally methods as needed.

  7. Congenital abnormalities of the inferior vena cava presenting clinically in adolescent males.

    PubMed

    Halparin, Jessica; Monagle, Paul; Newall, Fiona

    2015-04-01

    Congenital anatomic abnormality of the inferior vena cava (IVC) is an important risk factor for the development of spontaneous proximal lower extremity deep vein thrombosis (DVT) in young adults. The incidence of DVT associated with congenital IVC anomalies in paediatric populations has not been described, and the implications of IVC anomalies for treatment and outcomes of DVT are unknown. This study reports a series of five adolescent males with spontaneous lower extremity DVTs and underlying congenital IVC abnormalities. Cases were identified by searching the institutional database of patients treated with anticoagulation for venous thromboembolism at a tertiary children's hospital. The demographics, clinical presentations, imaging findings, treatment courses, and outcomes are described. All cases occurred in males, and accounted for approximately twenty percent of adolescent males presenting with DVT. IVC abnormality is likely an under-recognized risk factor for DVT in this age group, and detailed vascular imaging should be pursued in adolescents with spontaneous proximal lower extremity DVT when initial ultrasonography does not delineate the proximal clot extent. Management requires individual risk-benefit assessment in the context of providing developmentally appropriate care. Further research is required to establish long-term outcomes and determine optimal treatment strategies. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. A mixed state core for melancholia: an exploration in history, art and clinical science.

    PubMed

    Akiskal, H S; Akiskal, K K

    2007-01-01

    We argue for a mixed state core for melancholia comparing concepts of melancholia across centuries using examples from art, history and scientific literature. Literature reviews focusing on studies from Kraepelin onward, DSM-IV classification and view-points from clinical experience highlighting phenomenologic and biologic features as predictors of bipolar outcome in prospective studies of depression. Despite the implied chemical pathology in the term endogenous/melancholic depression, frequently reported glucocortical and sleep neurophysiologic abnormalities, there is little evidence that melancholia is inherited independently from more broadly defined depressions. Prospective follow-up of 'neurotic' depressions have shown melancholic outcomes in as many as a third; hypomania has also been observed in such follow-up. These findings and considerations overall do suggest that melancholia as defined today is more closely aligned with the depressive and/or mixed phase of bipolar disorder. Given the high suicidality from many of these patients the practice of treating them with antidepressant monotherapy needs re-evaluation.

  9. Reimagining nursing's place in the history of clinical practice.

    PubMed

    Fairman, Julie; D'Antonio, Patricia

    2008-10-01

    This work posits how medical history might be conceptualized if nurses and nursing history was used as the analytical lens. Nursing is seen not as a separate part or subsection of medical history, but rather one that is deeply embedded in the relationships and social order of clinical practice. Nursing is an analytical category in and of itself. By approaching nursing as such a category, we enlarge "new notions of historical significance" to encompass personal, political, public, and private activities that constitute medical experiences.

  10. Reimagining Nursing's Place in the History of Clinical Practice

    PubMed Central

    Fairman, Julie; D'Antonio, Patricia

    2008-01-01

    This work posits how medical history might be conceptualized if nurses and nursing history was used as the analytical lens. Nursing is seen not as a separate part or subsection of medical history, but rather one that is deeply embedded in the relationships and social order of clinical practice. Nursing is an analytical category in and of itself. By approaching nursing as such a category, we enlarge “new notions of historical significance” to encompass personal, political, public, and private activities that constitute medical experiences. PMID:18375461

  11. Clinical implications of chromosomal abnormalities in gastric adenocarcinomas

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wu, Chew-Wun; Chen, Gen-Der; Fann, Cathy S.-J.

    2003-06-23

    Gastric carcinoma (GC) is one of the most common malignancies worldwide and has a very poor prognosis. Genetic imbalances in 62 primary gastric adenocarcinomas of various histopathologic types and pathologic stages and six gastric cancer-derived cell lines were analyzed by comparative genomic hybridization, and the relationship of genomic abnormalities to clinical features in primary GC was evaluated at a genome-wide level. Eighty-four percent of the tumors and all six cell lines showed DNA copy number changes. The recurrent chromosomal abnormalities including gains at 15 regions and losses at 8 regions were identified. Statistical analyses revealed that gains at 17q24-qter (53more » percent), 20q13-qter (48 percent), 1p32-p36 (42 percent), 22q12-qter (27 percent), 17p13-pter (24 percent), 16p13-pter (21 percent), 6p21-pter (19 percent), 20p12-pter (19 percent), 7p21-pter (18 percent), 3q28-qter (8 percent), and 13q13-q14 (8 percent), and losses at 18q12-qter (11 percent), 3p12 (8 percent), 3p25-pter (8 percent), 5q14-q23 (8 percent), and 9p21-p23 (5 percent), are associated with unique patient or tumor-related features. GCs of differing histopathologic features were shown to be associated with distinct patterns of genetic alterations, supporting the notion that they evolve through distinct genetic pathways. Metastatic tumors were also associated with specific genetic changes. These regions may harbor candidate genes involved in the pathogenesis of this malignancy.« less

  12. [Longjintonglin Capsules for type IIIA prostatitis accompanied by abnormal semen liquefaction: A clinical observation].

    PubMed

    Cai, Hong-cai; Wan, Chang-chun; Geng, Qiang; Liu, Wei; Zhang, Guo-wei; Shang, Xue-jun; Huang, Yu-feng

    2016-01-01

    To evaluate the therapeutic effect of Longjintonglin Capsules on type IIIA prostatitis accompanied by abnormal semen liquefaction. We selected 140 patients with type IIIA prostatitis accompanied by abnormal semen liquefaction according to the diagnostic standards of the American Institutes of Health (NIH) and treated them with Longjintonglin Capsules orally 3 capsules once tid for 12 weeks. We obtained the NIH Chronic Prostatitis Symptom Indexes (NIH-CPSI), traditional Chinese medicine (TCM) syndrome scores, leukocyte count in the expressed prostatic secretion (EPS), semen liquefaction time, and the results of semen analysis and compared these indicators before and after the treatment. Of the 140 cases, 132 were included in this study, excluding 8 due to their incomplete case histories. Before and after 4, 8 and 12 weeks of medication, the total NIH-CPSI scores were 24.52 ± 5.43, 21.28 ± 4.85, 18.01 ± 4.28, and 14.49 ± 3.65 (P < 0.01), the TCM syndrome scores were 35.63 ± 6.07, 26.66 ± 5.03, 17.37 ± 4.18, and 11.11 ± 3.96 (P < 0.01), and the leukocyte counts (/HP) were 27.50 ± 7.01, 22.38 ± 5.22, 16:76 ± 4.10, and 11.40 ± 4.74 (P < 0.01), respectively. After 12 weeks of treatment, 31 of the patients with type IIIA prostatitis were cured and another 72 well responded, with an overall response rate of 78.0%. Of those with abnormal semen liquefaction, 61 were cured, 39 well responded, and 32 failed to respond, with an overall effectiveness rate of 75.8%. Semen analysis showed significantly increased percentage of progressively motile sperm after 4, 8 and 12 weeks of medication as compared with the baseline (P < 0.01). No abnormal liver or renal function or other adverse reactions were observed during the treatment. Longjintonglin Capsules, with its advantages of safety, effectiveness and no obvious adverse effects, deserve to be recommended for the treatment of type IIIA prostatitis accompanied by abnormal semen liquefaction.

  13. Evaluation of abnormal liver function tests.

    PubMed

    Agrawal, Swastik; Dhiman, Radha K; Limdi, Jimmy K

    2016-04-01

    Incidentally detected abnormality in liver function tests is a common situation encountered by physicians across all disciplines. Many of these patients do not have primary liver disease as most of the commonly performed markers are not specific for the liver and are affected by myriad factors unrelated to liver disease. Also, many of these tests like liver enzyme levels do not measure the function of the liver, but are markers of liver injury, which is broadly of two types: hepatocellular and cholestatic. A combination of a careful history and clinical examination along with interpretation of pattern of liver test abnormalities can often identify type and aetiology of liver disease, allowing for a targeted investigation approach. Severity of liver injury is best assessed by composite scores like the Model for End Stage Liver Disease rather than any single parameter. In this review, we discuss the interpretation of the routinely performed liver tests along with the indications and utility of quantitative tests. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  14. Vascular uterine abnormalities: Comparison of imaging findings and clinical outcomes.

    PubMed

    Hugues, Clara; Le Bras, Yann; Coatleven, Frederic; Brun, Jean-Luc; Trillaud, Hervé; Grenier, Nicolas; Cornelis, François

    2015-12-01

    To retrospectively compare the imaging findings and the outcomes for patients with vascular uterine abnormalities (VUA) and to identify prognostic factors. Between 2007 and 2012, 38 patients with vaginal bleeding and abnormal ultrasonographic (US) findings consistent with acquired VUA were consecutively included (mean age 31.6 years, range 19-62). Follow-up was 32 months in mean (1-78 months). Seventeen women (44.7%) started bleeding immediately after curettage, spontaneous miscarriage, trophoblastic disease, or section scars, with the remainder starting bleeding after 8 days to 2 years. All US, CT (n=2), MR (n=5) and angiographic (n=26) images were reviewed and compared to medical reports in order to identify severe VUA requiring treatment, and predictive factors. No information about severity was provided by US, MRI or CT. Twelve patients were successfully managed conservatively. Angiography identified 6 non-severe VUA, corresponding to an isolated uterine hyperemia, and 20 severe VUA, corresponding to an association of a nidus and early venous drainage. Recurrences were more often observed for severe VUA (p=0.001). The hemoglobin level was significantly lower (below 11 g/L) in these cases (p=0.004). Recurrences were significantly more frequently observed for patients with history of dilatation and curettage (p=0.02). Hysterectomy was performed for three patients only (8%). Among the women who wished to have children, 14 (77.8%) were pregnant after 9 months in mean (range 2-23). Recurrence happens more frequently after curettage and in case of anemia or severe VUA findings on angiography, justifying adequate embolization for these patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  15. Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

    PubMed

    Dittmer, K E; Thompson, K G

    2015-09-01

    Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation. © The Author(s) 2015.

  16. Comparison of clinical associations and laboratory abnormalities in children with moderate and severe dehydration.

    PubMed

    Hayajneh, Wail A; Jdaitawi, Hussein; Al Shurman, Abdullah; Hayajneh, Yaseen A

    2010-03-01

    To search for possible early clinical associations and laboratory abnormalities in children with severe dehydration in northern Jordan. We prospectively evaluated 251 children with acute gastroenteritis. Dehydration assessment was done following a known clinical scheme. Probable clinical associations and laboratory abnormalities were examined against the preassigned dehydration status. Children with severe dehydration had significantly more hypernatremia and hyperkalemia, less isonatremia, and higher mean levels of urea, creatinine, and glucose (P < 0.005). Receiver operating characteristic curves showed statistically significant area under the curve values for laboratory variables. These area under the curve values were 0.991 (95% confidence interval [CI] 0.980-1.001) for serum urea, 0.862 (95% CI 0.746-0.978) for sodium, 0.850 (95% CI 0.751-0.949) for creatinine, 0.69 (95% CI 0.555-0.824) for potassium, and 0.684 (95% CI 0.574-0.795) for glucose (P < 0.05 for all). Certain independent serum cutoff levels of urea, creatinine, sodium, glucose, and potassium had high negative predictive value (100%), whereas other cutoff values for each, except potassium, had high positive predictive value (100%) for severe dehydration. Historic clinical characteristics of patients did not correlate to dehydration degree. Serum urea, creatinine, sodium, potassium, and glucose were useful independently in augmenting clinical examination to diagnose the degree of dehydration status among children presenting with gastroenteritis. Serum urea performed the best among all. On the contrary, none of the examined historical clinical patterns could be correlated to the dehydration status. Larger and multicenter studies are needed to validate our results and to examine their impact on final outcomes.

  17. Clinical history as a predictor of penicillin skin test outcome.

    PubMed

    Wong, Benjamin B L; Keith, Paul K; Waserman, Susan

    2006-08-01

    Up to 10% of the population reports an "allergy" to penicillin, whereas approximately 1.1% has positive penicillin skin test results. Where penicillin skin tests are unavailable, some have advocated using history to decide whether to use a penicillin-related antibiotic. To determine if clinical history predicts penicillin skin test results. Retrospective medical record review of 94 consecutive patients who had previously taken penicillin referred for penicillin allergy. Case histories were taken, penicillin skin tests performed, and an oral challenge recommended if skin test results were negative. Of 91 cases studied, the average patient age was 27 years (range, 6 months to 82 years; 36% female). Fifty-two (57%) experienced hives as their main adverse reaction. Sixteen (18%) had at least 1 positive test result. Of this group, 9 had hives as their main symptom, whereas 1 had respiratory problems and 1 had angioedema. Most patients with positive skin test results had experienced their reaction at least 3 years ago. Regression analysis showed that age, sex, and clinical history, including type of reaction, time of reaction after penicillin ingestion, or time since the last reaction, were not associated with skin test positivity. Seventy-two (96%) of the 75 patients who had negative skin test results underwent oral challenge. Seventy had negative challenge results. The negative predictive value of a negative penicillin skin test result was 97%. Clinical history was not predictive of subsequent penicillin skin test results.

  18. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis.

    PubMed

    Li, Hui; Wei, Jun; Ma, Ying; Shang, Tao

    2005-09-01

    To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99

  19. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

    PubMed

    Lee, Jin Sook; Byun, Christine K; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Choi, Ji Eun; Hwang, Yong Seung; Seong, Moon-Woo; Park, Sung Sup; Kim, Ki Joong; Chae, Jong-Hee

    2015-04-01

    Rubinstein-Taybi syndrome (RSTS) is one of the neurodevelopmental disorders caused by mutations of epigenetic genes. The CREBBP gene is the most common causative gene, encoding the CREB-binding protein with histone acetyltransferase (HAT) activity, an epigenetic modulator. To date, there have been few reports on the structural abnormalities of the brain in RSTS patients. In addition, there are no reports on the analysis of CREBBP mutations in Korean RSTS patients. We performed mutational analyses on 16 unrelated patients with RSTS, with diagnosis based on the typical clinical features. Their medical records and brain MRI images were reviewed retrospectively. Ten of 16 patients (62.5%) had mutations in the CREBBP gene. The mutations included five frameshift mutations (31.2%), two nonsense mutations (12.5%), and three multiexon deletions (18.8%). There were no remarkable significant differences in the clinical features between those with and without a CREBBP mutation, although brain MRI abnormalities were more frequently observed in those with a CREBBP mutation. Seven of 10 patients in whom brain imaging was performed had structural abnormalities, including Chiari malformation type 1, thinning of the corpus callosum, and delayed myelination. There were no differences in delayed development or cognitive impairment between those with and without abnormal brain images, while epilepsy was involved in two patients who had abnormalities on brain MRI images. We investigated the spectrum of CREBBP mutations in Korean patients with RSTS for the first time. Eight novel mutations extended the genetic spectrum of CREBBP mutations in RSTS patients. This is also the first study showing the prevalence and spectrum of abnormalities on brain MRI in RSTS patients. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  20. Relationship Between Clinical and Immunological Features with Magnetic Resonance Imaging Abnormalities in Female Patients with Neuropsychiatric Systemic Lupus Erythematosus

    PubMed Central

    Wang, Hai-Peng; Wang, Cui-Yan; Pan, Zheng-Lun; Zhao, Jun-Yu; Zhao, Bin

    2016-01-01

    Background: Conventional magnetic resonance imaging (MRI) is the preferred neuroimaging method in the evaluation of neuropsychiatric systemic lupus erythematosus (NPSLE). The purpose of this study was to investigate the association between clinical and immunological features with MRI abnormalities in female patients with NPSLE, to screen for the value of conventional MRI in NPSLE. Methods: A total of 59 female NPSLE patients with conventional MRI examinations were enrolled in this retrospective study. All patients were classified into different groups according to MRI abnormalities. Both clinical and immunological features were compared between MRI abnormal and normal groups. One-way analysis of variance was used to compare the systemic lupus erythematosus disease activity index (SLEDAI) score for MRI abnormalities. Multivariate logistic regression analysis investigated the correlation between immunological features, neuropsychiatric manifestations, and MRI abnormalities. Results: Thirty-six NPSLE patients (61%) showed a variety of MRI abnormalities. There were statistically significant differences in SLEDAI scores (P < 0.001), incidence of neurologic disorders (P = 0.001), levels of 24-h proteinuria (P = 0.001) and immunoglobulin M (P = 0.004), and incidence of acute confusional state (P = 0.002), cerebrovascular disease (P = 0.004), and seizure disorder (P = 0.028) between MRI abnormal and normal groups. In the MRI abnormal group, SLEDAI scores for cerebral atrophy (CA), cortex involvement, and restricted diffusion (RD) were much higher than in the MRI normal group (P < 0.001, P = 0.002, P = 0.038, respectively). Statistically significant positive correlations between seizure disorder and cortex involvement (odds ratio [OR] = 14.90; 95% confidence interval [CI], 1.50–151.70; P = 0.023) and cerebrovascular disease and infratentorial involvement (OR = 10.00; 95% CI, 1.70–60.00; P = 0.012) were found. Conclusions: MRI abnormalities in NPSLE, especially CA

  1. Clinical classification and neuro-vestibular evaluation in chronic dizziness.

    PubMed

    Oh, Sun-Young; Kim, Do-Hyung; Yang, Tae-Ho; Shin, Byoung-Soo; Jeong, Seul-Ki

    2015-01-01

    This study attempts to clarify the clinical characteristics of chronic dizziness and its relationships with specific vestibular, oculomotor, autonomic and psychiatric dysfunctions. 73 Patients with idiopathic chronic dizziness were recruited and classified based on history taking and clinical examination into the following four clinical subgroups; vestibular migraine (VM), dysautonomia, psychogenic, and unspecified groups. They were also evaluated using oculomotor, otolithic and autonomic function tests, and psychologic investigation. Patients in the VM group showed a high proportion of abnormality on smooth pursuit and otolithic function testing compared to the other groups. The dysautonomia group revealed significant abnormalities in sympathetic and cardiovagal autonomic function, while the psychogenic group had a high frequency of abnormality in sympathetic autonomic testing and in Beck's anxiety inventory scale. The unspecified group showed abnormalities on saccade, smooth pursuit and autonomic function testing. Clinical classification of patients with chronic dizziness was relevant and they showed a correlation with disease-specific abnormal results in oculomotor, otolithic, autonomic function and psychology testing. Appropriate diagnostic investigation based on precise clinical diagnosis of chronic dizziness reduces the need for extensive laboratory testing, neuroimaging, and other low-yield tests. Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  2. Routine history as compared to audio computer-assisted self-interview for prenatal care history taking.

    PubMed

    Mears, Molly; Coonrod, Dean V; Bay, R Curtis; Mills, Terry E; Watkins, Michelle C

    2005-09-01

    To compare endorsement rates obtained with audio computer-assisted self-interview versus routine prenatal history. A crosssectional study compared items captured with the routine history to those captured with a computer interview (computer screen displaying and computer audio reading questions, with responses entered by touch screen). The subjects were women (n=174) presenting to a public hospital clinic for prenatal care. The prevalence of positive responses using the computer interview was significantly greater (p < 0.01) than with the routine history for induced abortion (16.8% versus 4.0%), lifetime smoking (12.8% versus 5.2%), intimate partner violence (10.0% versus 2.4%), ectopic pregnancy (5.2% versus 1.1%) and family history of mental retardation (6.7% versus 0.6%). Significant differences were not found for history of spontaneous abortion, hypertension, epilepsy, thyroid disease, smoking during pregnancy, gynecologic surgery, abnormal Pap test, neural tube defect or cystic fibrosis family history. However, in all cases, prevalence was equal or greater with the computer interview. Women were more likely to report sensitive and high-risk behavior, such as smoking history, intimate partner violence and elective abortion, with the computer interview. The computer interview displayed equal or increased patient reporting of positive responses and may therefore be an accurate method of obtaining an initial history.

  3. Extramedullary Relapse of Acute Lymphoblastic Leukemia Presenting as Abnormal Uterine Bleeding: A Case Report.

    PubMed

    Robillard, Diana T; Kutny, Matthew A; Chewning, Joseph H; Arbuckle, Janeen L

    2017-06-01

    Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Relapse of ALL occurs in 15%-20% of patients, with 2%-6% occurring exclusively in extramedullary sites. Relapse of ALL in gynecologic organs is extremely rare. We present a case of a 12-year-old girl with a history of ALL who was referred to the pediatric gynecology clinic with abnormal uterine bleeding. She was determined to have an extramedullary uterine relapse of her ALL. Abnormal uterine bleeding in the setting of childhood malignancy is a frequent reason for consultation to pediatric and adolescent gynecology services. This bleeding is commonly attributed to thrombocytopenia due to bone marrow suppressive chemotherapeutic agents. However, as shown in this report, abnormal uterine bleeding might be a manifestation of an extramedullary relapse. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  4. Temporal pole abnormalities detected by 3 T MRI in temporal lobe epilepsy due to hippocampal sclerosis: No influence on seizure outcome after surgery.

    PubMed

    Casciato, Sara; Picardi, Angelo; D'Aniello, Alfredo; De Risi, Marco; Grillea, Giovanni; Quarato, Pier Paolo; Mascia, Addolorata; Grammaldo, Liliana G; Meldolesi, Giulio Nicolo'; Morace, Roberta; Esposito, Vincenzo; Di Gennaro, Giancarlo

    2017-05-01

    To assess the clinical significance of temporal pole abnormalities (temporopolar blurring, TB, and temporopolar atrophy, TA) detected by using 3 Tesla MRI in the preoperative workup in patients with temporal lobe epilepsy due to hippocampal sclerosis (TLE-HS) who underwent surgery. We studied 78 consecutive patients with TLE-HS who underwent surgery and were followed up for at least 2 years. Based on findings of pre-surgical 3 Tesla MRI, patients were subdivided in subgroups according to the presence of TB or TA. Subgroups were compared on demographic, clinical, neuropsychological data and seizure outcome. TB was found in 39 (50%) patients, while TA was found in 32 (41%) patients, always ipsilateral to HS, with a considerable degree of overlap (69%) between TB and TA (p=0.01). Patients with temporopolar abnormalities did not significantly differ from those without TB or TA with regard to sex, age, age of epilepsy onset, duration of epilepsy, history of febrile convulsions or birth complications, side of surgery, seizure frequency at surgery, presence of GTCSs, and, in particular, seizure outcome. On the other hand, TB patients show a less frequent family history of epilepsy (p<.05) while age at epilepsy onset showed a trend to be lower in the TB group (p=.09). Patients with temporopolar atrophy did not significantly differ from those without TA on any variable, except for age at epilepsy onset, which was significantly lower for the TA group (p<.05). History of birth complications and longer duration of epilepsy also showed a trend to be associated with TA (p=.08). Multivariate analysis corroborated the association between temporopolar abnormalities and absence of family history of epilepsy and history of birth complications. High-field 3 T MRI in the preoperative workup for epilepsy surgery confirms that temporopolar abnormalities are frequent findings in TLE-HS patients and may be helpful to lateralize the epileptogenic zone. Their presence did not influence

  5. Automated extraction of family history information from clinical notes.

    PubMed

    Bill, Robert; Pakhomov, Serguei; Chen, Elizabeth S; Winden, Tamara J; Carter, Elizabeth W; Melton, Genevieve B

    2014-01-01

    Despite increased functionality for obtaining family history in a structured format within electronic health record systems, clinical notes often still contain this information. We developed and evaluated an Unstructured Information Management Application (UIMA)-based natural language processing (NLP) module for automated extraction of family history information with functionality for identifying statements, observations (e.g., disease or procedure), relative or side of family with attributes (i.e., vital status, age of diagnosis, certainty, and negation), and predication ("indicator phrases"), the latter of which was used to establish relationships between observations and family member. The family history NLP system demonstrated F-scores of 66.9, 92.4, 82.9, 57.3, 97.7, and 61.9 for detection of family history statements, family member identification, observation identification, negation identification, vital status, and overall extraction of the predications between family members and observations, respectively. While the system performed well for detection of family history statements and predication constituents, further work is needed to improve extraction of certainty and temporal modifications.

  6. Clinical features of subarachnoid hemorrhage in patients with positive cancer history.

    PubMed

    Shibahara, Ichiyo; Watanabe, Takashi; Ezura, Masayuki; Inoue, Takashi; Fujimura, Miki; Kimura, Naoto; Inoue, Tomoo; Suzuki, Ichiro; Nishino, Akiko; Nishimura, Shinjitsu; Uenohara, Hiroshi; Tominaga, Teiji

    2016-05-01

    Advances in cancer treatment have dramatically increased long-term survivors. Prolonged survival increases comorbidity risk, but there is a paucity of studies on how cancer history alters clinical outcomes from subsequent diseases. This study aims to investigate whether positive cancer history influences clinical outcome following subarachnoid hemorrhage (SAH). We retrospectively reviewed consecutive SAH patients admitted between January 2008 and March 2014. Medical histories, known SAH risk factors, and outcome were compared between SAH patients with and without cancer history. Out of the 498 SAH patients, 55 cases had cancer history, 438 cases had no cancer history and 5 cases had an unknown cancer history. Compared with SAH patients without cancer history, those with cancer history had poorer Hunt & Hess grade at SAH presentation (P = 0.021), and poorer modified Rankin Scale (mRS) score at discharge (P < 0.001). After adjustment for age, sex, modified Fisher, previous SAH, history of hypertension, current smoking status, and current alcohol consumption, positive cancer history remained an independent risk factor for poorer mRS0-6 [odds ratio (OR) = 2.25, 95 % confidence interval (CI) 1.28-3.94] and mRS6 (OR = 2.74, 95 % CI 1.40-5.37). Furthermore, stratified analysis by Hunt & Hess grade adjusted by age, sex, and modified Fisher scale, OR of poorer mRS0-6 was 2.12 (95 % CI 0.89-5.05) and OR of mRS6 was 3.68 (95 % CI 1.35-10.04). After adjustment of patients for demographic factors, classical risk factors for SAH and Hunt & Hess grade, previous cancer history is a risk factor for the poor functional outcome of SAH.

  7. Freud Was Right. . . about the Origins of Abnormal Behavior

    ERIC Educational Resources Information Center

    Muris, Peter

    2006-01-01

    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  8. Toxoplasmosis: A history of clinical observations.

    PubMed

    Weiss, Louis M; Dubey, Jitender P

    2009-07-01

    It has been 100 years since Toxoplasma gondii was initially described in Tunis by Nicolle and Manceaux (1908) in the tissues of the gundi (Ctenodoactylus gundi) and in Brazil by Splendore (1908) in the tissues of a rabbit. Toxoplasma gondii is a ubiquitous, Apicomplexan parasite of warm-blooded animals that can cause several clinical syndromes including encephalitis, chorioretinitis, congenital infection and neonatal mortality. Fifteen years after the description of T. gondii by Nicolle and Manceaux a fatal case of toxoplasmosis in a child was reported by Janků. In 1939 Wolf, Cowen and Paige were the first to conclusively identify T. gondii as a cause of human disease. This review examines the clinical manifestations of infection with T. gondii and the history of the discovery of these manifestations.

  9. Toxoplasmosis: a history of clinical observations

    PubMed Central

    Weiss, Louis M.; Dubey, Jitender. P.

    2009-01-01

    It has been 100 years since Toxoplasma gondii was initially described in Tunis by Nicolle and Manceaux (1908) in the tissues of the gundi (Ctenodoactylus gundi) and in Brazil by Splendore (1908) in the tissues of a rabbit. Toxoplasma gondii is a ubiquitous, Apicomplexan parasite of warm-blooded animals that can cause several clinical syndromes including encephalitis, chorioretinitis, congenital infection and neonatal mortality. Fifteen years after the description of T. gondii by Nicolle and Manceaux a fatal case of toxoplasmosis in a child was reported by Janků. In 1939 Wolf, Cowen and Paige were the first to conclusively identify T. gondii as a cause of human disease. This review examines the clinical manifestations of infection with T. gondii and the history of the discovery of these manifestations. PMID:19217908

  10. History and physical examination findings predictive of testicular torsion: an attempt to promote clinical diagnosis by house staff.

    PubMed

    Srinivasan, Arun; Cinman, Nadya; Feber, Kevin M; Gitlin, Jordan; Palmer, Lane S

    2011-08-01

    To standardize the history and physical examination of boys who present with acute scrotum and identify parameters that best predict testicular torsion. Over a 5-month period, a standardized history and physical examination form with 22 items was used for all boys presenting with scrotal pain. Management decisions for radiological evaluation and surgical intervention were based on the results. Data were statistically analyzed in correlation with the eventual diagnosis. Of the 79 boys evaluated, 8 (10.1%) had testicular torsion. On univariate analysis, age, worsening pain, nausea/vomiting, severe pain at rest, absence of ipsilateral cremaster reflex, abnormal testicular position and scrotal skin changes were statistically predictive of torsion. After multivariate analysis and adjusting for confounding effect of other co-existing variables, absence of ipsilateral cremaster reflex (P < 0.001), nausea/vomiting (P < 0.05) and scrotal skin changes (P < 0.001) were the only consistent predictive factors of testicular torsion. An accurate history and physical examination of boys with acute scrotum should be primary in deciding upon further radiographic or surgical evaluation. While several forces have led to less consistent overnight resident staffing, consistent and reliable clinical evaluation of the acute scrotum using a standardized approach should reduce error, improve patient care and potentially reduce health care costs. Copyright © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  11. Neurologic abnormalities in murderers.

    PubMed

    Blake, P Y; Pincus, J H; Buckner, C

    1995-09-01

    Thirty-one individuals awaiting trial or sentencing for murder or undergoing an appeal process requested a neurologic examination through legal counsel. We attempted in each instance to obtain EEG, MRI or CT, and neuropsychological testing. Neurologic examination revealed evidence of "frontal" dysfunction in 20 (64.5%). There were symptoms or some other evidence of temporal lobe abnormality in nine (29%). We made a specific neurologic diagnosis in 20 individuals (64.5%), including borderline or full mental retardation (9) and cerebral palsy (2), among others. Neuropsychological testing revealed abnormalities in all subjects tested. There were EEG abnormalities in eight of the 20 subjects tested, consisting mainly of bilateral sharp waves with slowing. There were MRI or CT abnormalities in nine of the 19 subjects tested, consisting primarily of atrophy and white matter changes. Psychiatric diagnoses included paranoid schizophrenia (8), dissociative disorder (4), and depression (9). Virtually all subjects had paranoid ideas and misunderstood social situations. There was a documented history of profound, protracted physical abuse in 26 (83.8%) and of sexual abuse in 10 (32.3%). It is likely that prolonged, severe physical abuse, paranoia, and neurologic brain dysfunction interact to form the matrix of violent behavior.

  12. Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

    PubMed Central

    Bártfai, Zoltán; Bánhidy, Ferenc

    2011-01-01

    The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth defects, namely neural-tube defects and some other congenital abnormalities. Recently, some studies have demonstrated the efficacy of this new method in reducing congenital abnormalities with specific origin; for example, in the offspring of diabetic and epileptic mothers, and in pregnancy with high fever. The benefits and drawbacks of four possible uses of periconception folate/folic acid and multivitamin supplementation are discussed: we believe there has been a missed opportunity to implement this preventive approach in medical practice. The four methods are as follows: (i) dietary intake of folate and other vitamins, (ii) periconception folic acid/multivitamin supplementation, (iii) food fortification with folic acid, and (iv) the combination of oral contraceptives with 6S-5-methytetrahydrofolate (‘folate’). PMID:25083211

  13. The biasing effect of clinical history on physical examination diagnostic accuracy.

    PubMed

    Sibbald, Matthew; Cavalcanti, Rodrigo B

    2011-08-01

    Literature on diagnostic test interpretation has shown that access to clinical history can both enhance diagnostic accuracy and increase diagnostic error. Knowledge of clinical history has also been shown to enhance the more complex cognitive task of physical examination diagnosis, possibly by enabling early hypothesis generation. However, it is unclear whether clinicians adhere to these early hypotheses in the face of unexpected physical findings, thus resulting in diagnostic error. A sample of 180 internal medicine residents received a short clinical history and conducted a cardiac physical examination on a high-fidelity simulator. Resident Doctors (Residents) were randomised to three groups based on the physical findings in the simulator. The concordant group received physical examination findings consistent with the diagnosis that was most probable based on the clinical history. Discordant groups received findings associated with plausible alternative diagnoses which either lacked expected findings (indistinct discordant) or contained unexpected findings (distinct discordant). Physical examination diagnostic accuracy and physical examination findings were analysed. Physical examination diagnostic accuracy varied significantly among groups (75 ± 44%, 2 ± 13% and 31 ± 47% in the concordant, indistinct discordant and distinct discordant groups, respectively (F(2,177)  = 53, p < 0.0001). Of the 115 Residents who were diagnostically unsuccessful, 33% adhered to their original incorrect hypotheses. Residents verbalised an average of 12 findings (interquartile range: 10-14); 58 ± 17% were correct and the percentage of correct findings was similar in all three groups (p = 0.44). Residents showed substantially decreased diagnostic accuracy when faced with discordant physical findings. The majority of trainees given discordant physical findings rejected their initial hypotheses, but were still diagnostically unsuccessful. These results

  14. Cell-free DNA screening in clinical practice: abnormal autosomal aneuploidy and microdeletion results.

    PubMed

    Valderramos, Stephanie G; Rao, Rashmi R; Scibetta, Emily W; Silverman, Neil S; Han, Christina S; Platt, Lawrence D

    2016-11-01

    Since its commercial release in 2011 cell-free DNA screening has been rapidly adopted as a routine prenatal genetic test. However, little is known about its performance in actual clinical practice. We sought to investigate factors associated with the accuracy of abnormal autosomal cell-free DNA results. We conducted a retrospective cohort study of 121 patients with abnormal cell-free DNA results from a referral maternal-fetal medicine practice from March 2013 through July 2015. Patients were included if cell-free DNA results for trisomy 21, trisomy 18, trisomy 13, or microdeletions (if reported by the laboratory) were positive or nonreportable. The primary outcome was confirmed aneuploidy or microarray abnormality on either prenatal or postnatal karyotype or microarray. Secondary outcomes were identifiable associations with in vitro fertilization, twins, ultrasound findings, testing platform, and testing laboratory. Kruskal-Wallis or Fisher exact tests were used as appropriate. A total of 121 patients had abnormal cell-free DNA results for trisomy 21, trisomy 18, trisomy 13, and/or microdeletions. In all, 105 patients had abnormal cell-free DNA results for trisomy 21, trisomy 18, and trisomy 13. Of these, 92 (87.6%) were positive and 13 (12.4%) were nonreportable. The results of the 92 positive cell-free DNA were for trisomy 21 (48, 52.2%), trisomy 18 (22, 23.9%), trisomy 13 (17, 18.5%), triploidy (2, 2.2%), and positive for >1 parameter (3, 3.3%). Overall, the positive predictive value of cell-free DNA was 73.5% (61/83; 95% confidence interval, 63-82%) for all trisomies (by chromosome: trisomy 21, 83.0% [39/47; 95% confidence interval, 69-92%], trisomy 18, 65.0% [13/20; 95% confidence interval, 41-84%], and trisomy 13, 43.8% [7/16; 95% confidence interval, 21-70%]). Abnormal cell-free DNA results were associated with positive serum screening (by group: trisomy 21 [17/48, 70.8%]; trisomy 18 [7/22, 77.8%]; trisomy 13 [3/17, 37.5%]; nonreportable [2/13, 16.7%]; P

  15. Clinical examination & record-keeping: Part 2: History taking.

    PubMed

    Hadden, A M

    2017-12-15

    This article is the second part of a BDJ series of Practice papers on the subject of clinical examination and related record keeping. The series is taken from the Faculty of General Dental Practice UK (FGDP[UK]) 2016 Good Practice Guidelines book on this topic, edited by A. M. Hadden. This particular article discusses history taking, where information may be gathered prior to the patient seeing the clinician or, in some cases, this may be carried out chairside by the individual. The information gathered can include a medical history, socio-behavioural history, and patient anxiety levels. It is important to note that throughout this article (and the BDJ series and associated FGDP[UK] book), the specific guidelines will be marked as follows: A: Aspirational, B: Basic, C: Conditional. Further information about this guideline notation system is provided in Part 1 of this series ( 2017; 223: 765-768).

  16. Impact of Clinical History on Maximum PI-RADS Version 2 Score: A Six-Reader 120-Case Sham History Retrospective Evaluation.

    PubMed

    Shankar, Prasad R; Kaza, Ravi K; Al-Hawary, Mahmoud M; Masch, William R; Curci, Nicole E; Mendiratta-Lala, Mishal; Sakala, Michelle D; Johnson, Timothy D; Davenport, Matthew S

    2018-04-17

    Purpose To assess the impact of clinical history on the maximum Prostate Imaging Recording and Data System (PI-RADS) version 2 (v2) score assigned to multiparametric magnetic resonance (MR) imaging of the prostate. Materials and Methods This retrospective cohort study included 120 consecutively selected multiparametric prostate MR imaging studies performed between November 1, 2016, and December 31, 2016. Sham clinical data in four domains (digital rectal examination, prostate-specific antigen level, plan for biopsy, prior prostate cancer history) were randomly assigned to each case by using a balanced orthogonal design. Six fellowship-trained abdominal radiologists independently reviewed the sham data, actual patient age, and each examination while they were blinded to interreader scoring, true clinical data, and histologic findings. Readers were told the constant sham histories were true, believed the study to be primarily investigating interrater agreement, and were asked to assign a maximum PI-RADS v2 score to each case. Linear regression was performed to assess the association between clinical variables and maximum PI-RADS v2 score designation. Intraclass correlation coefficients (ICCs) were obtained to compare interreader scoring. Results Clinical information had no significant effect on maximum PI-RADS v2 scoring for any of the six readers (P = .09-.99, 42 reader-variable pairs). Distributions of maximum PI-RADS v2 scores in the research context were similar to the distribution of the scores assigned clinically and had fair-to-excellent pairwise interrater agreement (ICC range: 0.53-0.76). Overall interrater agreement was good (ICC: 0.64; 95% confidence interval: 0.57, 0.71). Conclusion Clinical history does not appear to be a substantial bias in maximum PI-RADS v2 score assignment. This is potentially important for clinical nomograms that plan to incorporate PI-RADS v2 score and clinical data into their algorithms (ie, PI-RADS v2 scoring is not confounded by

  17. Dysmorphometrics: the modelling of morphological abnormalities.

    PubMed

    Claes, Peter; Daniels, Katleen; Walters, Mark; Clement, John; Vandermeulen, Dirk; Suetens, Paul

    2012-02-06

    The study of typical morphological variations using quantitative, morphometric descriptors has always interested biologists in general. However, unusual examples of form, such as abnormalities are often encountered in biomedical sciences. Despite the long history of morphometrics, the means to identify and quantify such unusual form differences remains limited. A theoretical concept, called dysmorphometrics, is introduced augmenting current geometric morphometrics with a focus on identifying and modelling form abnormalities. Dysmorphometrics applies the paradigm of detecting form differences as outliers compared to an appropriate norm. To achieve this, the likelihood formulation of landmark superimpositions is extended with outlier processes explicitly introducing a latent variable coding for abnormalities. A tractable solution to this augmented superimposition problem is obtained using Expectation-Maximization. The topography of detected abnormalities is encoded in a dysmorphogram. We demonstrate the use of dysmorphometrics to measure abrupt changes in time, asymmetry and discordancy in a set of human faces presenting with facial abnormalities. The results clearly illustrate the unique power to reveal unusual form differences given only normative data with clear applications in both biomedical practice & research.

  18. Automated Extraction of Family History Information from Clinical Notes

    PubMed Central

    Bill, Robert; Pakhomov, Serguei; Chen, Elizabeth S.; Winden, Tamara J.; Carter, Elizabeth W.; Melton, Genevieve B.

    2014-01-01

    Despite increased functionality for obtaining family history in a structured format within electronic health record systems, clinical notes often still contain this information. We developed and evaluated an Unstructured Information Management Application (UIMA)-based natural language processing (NLP) module for automated extraction of family history information with functionality for identifying statements, observations (e.g., disease or procedure), relative or side of family with attributes (i.e., vital status, age of diagnosis, certainty, and negation), and predication (“indicator phrases”), the latter of which was used to establish relationships between observations and family member. The family history NLP system demonstrated F-scores of 66.9, 92.4, 82.9, 57.3, 97.7, and 61.9 for detection of family history statements, family member identification, observation identification, negation identification, vital status, and overall extraction of the predications between family members and observations, respectively. While the system performed well for detection of family history statements and predication constituents, further work is needed to improve extraction of certainty and temporal modifications. PMID:25954443

  19. Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas.

    PubMed

    Kiviranta, A-M; Rusbridge, C; Laitinen-Vapaavuori, O; Hielm-Björkman, A; Lappalainen, A K; Knowler, S P; Jokinen, T S

    2017-11-01

    Chiari-like malformation (CM) and syringomyelia (SM) are widely reported in Cavalier King Charles Spaniels and Griffon Bruxellois dogs. Increasing evidence indicates that CM and SM also occur in other small and toy breed dogs, such as Chihuahuas. To describe the presence of SM and craniocervical junction (CCJ) abnormalities in Chihuahuas and to evaluate the possible association of CCJ abnormalities with SM. To describe CM/SM-related clinical signs and neurologic deficits and to investigate the association of CM/SM-related clinical signs with signalment, SM, or CCJ abnormalities. Fifty-three client-owned Chihuahuas. Prospective study. Questionnaire analyses and physical and neurologic examinations were obtained before magnetic resonance and computed tomography imaging. Images were evaluated for the presence of SM, CM, and atlantooccipital overlapping. Additionally, medullary kinking, dorsal spinal cord compression, and their sum indices were calculated. Scratching was the most common CM/SM-related clinical sign and decreased postural reaction the most common neurologic deficit in 73 and 87% of dogs, respectively. Chiari-like malformation and SM were present in 100 and 38% of dogs, respectively. Syringomyelia was associated with the presence of CM/SM-related clinical signs (P = 0.034), and medullary kinking and sum indices were higher in dogs with clinical signs (P = 0.016 and P = 0.007, respectively). Syringomyelia and CCJ abnormalities are prevalent in Chihuahuas. Syringomyelia was an important factor for the presence of CM/SM-related clinical signs, but many dogs suffered from similar clinical signs without being affected by SM, highlighting the clinical importance of CCJ abnormalities in Chihuahuas. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  20. Making the history of psychology clinically and philosophically relevant.

    PubMed

    Vande Kemp, Hendrika

    2002-08-01

    The author discusses ways to make the history of psychology course relevant for a clinical psychology doctoral program within a multidenominational Protestant theological seminary. She uses a personalist orientation to emphasize the need to integrate psychology, philosophy, and theology. She differentiates among the intrapersonal, interpersonal, impersonal, and transpersonal dimensions of experience. She illustrates the rich multidisciplinary historical roots of contemporary psychology by tracing the the history of the term psychology and examining its meanings in the existential psychology of Søren Kierkegaard and in the 19th-century novel. She includes brief histories of the "new psychology" and of the unconscious. She describes how she uses the field of psychotheological integration to illustrate principles of historiography and summarizes resources used to supplement traditional textbooks.

  1. Correlation between CD34 expression and chromosomal abnormalities but not clinical outcome in acute myeloid leukemia.

    PubMed

    Fruchart, C; Lenormand, B; Bastard, C; Boulet, D; Lesesve, J F; Callat, M P; Stamatoullas, A; Monconduit, M; Tilly, H

    1996-11-01

    The hemopoietic stem cell marker CD34 has been reported to be a useful predictor of treatment outcome in acute myeloid leukemia (AML). Previous data suggested that CD34 expression may be associated with other poor prognosis factors in AML such as undifferentiated leukemia, secondary AML (SAML), and clonal abnormalities involving chromosome 5 and 7. In order to analyze the correlations between the clinicopathologic features, cytogenetic and CD34 expression in AML, we retrospectively investigated 99 patients with newly diagnosed AML: 85 with de novo disease and 14 with secondary AML (SAML). Eighty-six patients who received the same induction chemotherapy were available for clinical outcome. Defining a case as positive when > or = 20% of bone marrow cells collected at diagnosis expressed the CD34 antigen, forty-five patients were included in the CD34 positive group. Ninety patients had adequate cytogenetic analysis. Thirty-two patients (72%) with CD34 positive AML exhibited an abnormal karyotype whereas 15 patients (28%) with CD34 negative AML had abnormal metaphases (P < 0.01). Monosomy 7/7q- or monosomy 5/5q- occurred in 10 patients and 8 of them expressed the CD34 antigen (P < 0.05). All patients with t(8;21) which is considered as a favorable factor in AML had levels of CD34 >/= 20% (P < 0.05). We did not find any association between CD34 expression and attainment of complete remission, overall survival, or disease-free survival. In conclusion, the variations of CD34 expression in AML are correlated with cytogenetic abnormalities associated both with poor and favorable outcome. The evaluation of the correlations between CD34 antigen and clinical outcome in AML should take into account the results of pretreatment karyotype.

  2. A study on causes and types of abnormal increase in infants' head circumference in kashan/iran.

    PubMed

    Talebian, Ahmad; Soltani, Babak; Moravveji, Alireza; Salamati, Ladan; Davami, Majid

    2013-01-01

    Head circumference is a valuable index of brain growth and its disturbances can indicate different disorders of nervous system. Abnormal increased head circumference (macrocephaly) is common and observed in about 2% of infants. In this study, the causes and clinical types of abnormal increase in infants' head circumference were investigated in Kashan, Iran. This cross-sectional study was performed on 90 infants less than 2 years of age with abnormal increase in head circumference in Kashan, during 2009- 2011. The data were collected by history taking, physical examination, growth chart, and imaging. 65 (72%) cases out of 90 infants were male and 25 ( 28%) cases were female. Fifty-three (58.8%) cases had familial megalencephaly, 30 (33.4%) had hydrocephalus, and other causes were observed in 7 (7.8%) cases. Eighty-three percent of Infants with familial megalencephaly and 50% with hydrocephalus had normal fontanels. In 90.6% of cases with familial megalencephaly, family history for large head was positive. Motor development was normal in 100% of cases with familial megalencephaly and 76.7% of hydrocephalic infants. Familial megalencephaly was the most common cause of macrocephaly in the studied infants, and most of them had normal physical examination and development, so, parental head circumferences should be considered in the interpretation of infant's head circumference and in cases of abnormal physical examination or development, other diagnostic modalities, including brain imaging should be done.

  3. Morphological patterns in children with ganglion related enteric neuronal abnormalities.

    PubMed

    Henna, Nausheen; Nagi, Abdul H; Sheikh, Muhammad A; Shaukat, Mahmood

    2011-01-01

    Hirschsprung's Disease (HD) is a developmental disorder of enteric nervous system characterised by the absence of ganglion cells in submucosal (Meissner's) and myenteric (Aurbach's) plexuses of distal bowel. The purpose of the present study was to observe and report the morphological patterns of ganglion related enteric neuronal abnormalities in children presented with clinical features of (HD) in a Pakistani population. A total of 92 patients with clinical presentation of HD were enrolled between March 2009 and October 2009. Among them, 8 were excluded according to the exclusion criteria. After detailed history and physical examination, paraffin embedded H and E stained sections were prepared from the serial open biopsies from colorectum. The data was analysed using SPSS-17. Frequencies and percentages are given for qualitative variables. Non-parametric Binomial Chi-Square test was applied to observe within group associations and p<0.05 was considered statistically significant. Among 84 patients, 13 (15.5%) proved to be normally ganglionic whereas 71 (84.5%) showed ganglion related enteric neuronal abnormalities namely isolated hypoganglionosis 9 (12.7%), immaturity of ganglion cells 9 (12.7%), isolated hyperganglionosis (IND Type B) 2 (2.8%) and Hirschsprung's disease 51 (71.8%). Among HD group, 34 (66.7%) belonged to isolated form and 17 (33.3%) showed combined ganglion related abnormalities. Hirschsprung's disease is common in Pakistani population, followed by hypoganglionosis, immaturity of ganglion cells and IND type B. The presence of hypertrophic nerve fibres was significant in HD, hyperganglionosis and hypoganglionosis, whereas, no hypertrophic nerve fibres were appreciated in immaturity of ganglion cell group.

  4. The structured menstrual history: developing a tool to facilitate diagnosis and aid in symptom management.

    PubMed

    Matteson, Kristen A; Munro, Malcolm G; Fraser, Ian S

    2011-09-01

    Abnormal uterine bleeding (AUB) is a prevalent symptom that encompasses abnormalities in menstrual regularity, duration, frequency and/or volume, and it is encountered frequently by both primary care physicians and obstetrician-gynecologists. Research on AUB has used numerous methods to measure bleeding and assess symptoms, but the lack of universally accepted outcome measures hinder the quality of research and the ability of clinical investigators to collaborate in multicenter trials. Similarly, clinical care for women reporting heavy, prolonged, or irregular menstrual bleeding is not optimized because standard ways of evaluating symptoms and change in symptoms over time do not exist. This article describes (1) the current methods of evaluating women with AUB, both in research and clinical care; and (2) offers suggestions for the development of a standardized structured menstrual history for use in both research and clinical care. © Thieme Medical Publishers.

  5. Variable Association between Components of the Metabolic Syndrome and Electrocardiographic Abnormalities in Korean Adults

    PubMed Central

    Kim, Chul-Hee; Ko, Kwan-Ho; Park, Seong-Wook; Park, Joong-Yeol; Lee, Ki-Up

    2010-01-01

    Background/Aims Resting electrocardiogram (ECG) abnormalities have been strongly associated with cardiovascular disease mortality. Little is known, however, about the association between individual components of metabolic syndrome and ECG abnormalities, especially in Asian populations. Methods We examined clinical and laboratory data from 31,399 subjects (age 20 to 89 years) who underwent medical check-ups. ECG abnormalities were divided into minor and major abnormalities based on Novacode criteria. Ischemic ECG findings were separately identified and analyzed. Results The overall prevalence rates of ECG abnormalities were significantly higher in subjects with than in those without metabolic syndrome (p < 0.01). Ischemic ECG was strongly associated with metabolic syndrome in all age groups of both sexes, except for younger women. In multiple logistic regression analysis, metabolic syndrome was independently associated with ischemic ECG (odds ratio, 2.30 [2.04 to 2.62]; p < 0.01), after adjusting for sex, age, smoking, and family history of cardiovascular disease. Of the metabolic syndrome components, hyperglycemia in younger subjects and hypertension in elderly subjects were major factors for ischemic ECG changes, whereas hypertriglyceridemia was not an independent risk factor in any age group. The association between ischemic ECG findings and central obesity was weaker in women than in men. Conclusions Metabolic syndrome was strongly associated with ECG abnormalities, especially ischemic ECG findings, in Koreans. The association between each component of metabolic syndrome and ECG abnormalities varied according to age and sex. PMID:20526391

  6. [Cardiac sarcoidosis - clinical manifestation and diagnosis].

    PubMed

    Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria

    2016-08-01

    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. © 2016 MEDPRESS.

  7. Relationship Between Pelvic Organ Prolapse and Non-Human Papillomavirus Pap Smear Abnormalities.

    PubMed

    Menhaji, Kimia; Harvie, Heidi S; Cheston, Emily; Levin, Pamela J; Arya, Lily A; Andy, Uduak U

    2017-07-13

    The aim of this study was to determine the association between pelvic organ prolapse (POP) and non-human papillomavirus (HPV) Papanicolaou (Pap) smear abnormalities. This was a retrospective cohort study of women aged 40 to 70 years who presented for consultation at our institution between 2010 and 2015 and had results of a Pap smear and HPV test available within 5 years of their visit. We extracted demographic information, medical and social history, Pap smear, and HPV results from the electronic medical record. Associations between the presence of POP and non-HPV Pap smear abnormalities were estimated using univariable and multivariable analyses. We reviewed 1590 charts and excluded 980 women, leaving 610 women in the study: 183 with POP and 427 without POP. Women with POP were significantly older (58.2 ± 7.2 vs 55.6 ± 6.6, P < 0.01) and more likely to have a remote (>10 year) history of abnormal Pap smear (24.0% vs 14.8%, P < 0.01). The rate of non-HPV-associated abnormal Pap smears was higher in the POP group than in the non-POP group (12/183 [6.6%] vs 12/427 [2.8%], P = 0.029). In the POP group, the rate of non-HPV Pap smear abnormality was significantly associated with increasing prolapse stage (stage 1: 0/16 [0%], stage 2: 5/77 [6.5%], stage 3: 3/73 [4.1%], stage 4: 4/17 [23.5%]; P = 0.02). After controlling for age and remote history of abnormal Pap smear, the odds ratio for non-HPV Pap smear abnormalities in the POP group remained significant (2.49; 95% confidence interval, 1.08-5.79). Human papillomavirus-negative Pap smear abnormalities may be related to POP. Our findings have important implications for surgeons seeking to leave the cervix in situ in women with POP.

  8. Clinical characteristics of hyperglycemic crises in patients without a history of diabetes.

    PubMed

    Chou, Willy; Chung, Min-Hsien; Wang, Hsien-Yi; Chen, Jiann-Hwa; Chen, Wei-Lung; Guo, How-Ran; Lin, Hung-Jung; Su, Shih-Bin; Huang, Chien-Cheng; Hsu, Chien-Chin

    2014-11-01

    Hyperglycemic crises without a history of diabetes have not been well studied. We compared the clinical characteristics of patients with and without a history of diabetes, and evaluated the glycated hemoglobin levels. Consecutive adult patients (aged >18 years) visiting the emergency department (ED) between January 2004 and December 2010 were enrolled if they met the criteria for a hyperglycemic crisis. Patients were separated into those without and those with a history of diabetes. The 30-day mortality was the primary end-point. We enrolled 295 patients who made 330 visits to the ED. Patients without a history of diabetes made up 24.5% (81/330) of the hyperglycemic crises. Patients without a history of diabetes were more prone than patients with a history of diabetes to be younger and male, and to have better consciousness and renal function, more significant diabetic signs and symptoms (e.g., thirst, polydipsia, polyuria and bodyweight loss), higher blood sugar, and less opportunity of infection and mortality. Most of the patients (93.8%, 76/81) had glycated hemoglobin of ≥6.5%. The present study delineates the clinical characteristics of patients with hyperglycemic crises, but without a history of diabetes. Most patients had glycated hemoglobin ≥6.5%, which raises the argument of using this biomarker for routine screening of diabetes.

  9. Volumetric structural brain abnormalities in men with schizophrenia or antisocial personality disorder.

    PubMed

    Barkataki, Ian; Kumari, Veena; Das, Mrigendra; Taylor, Pamela; Sharma, Tonmoy

    2006-05-15

    Brain abnormalities are found in association with antisocial personality disorder and schizophrenia, the two mental disorders most implicated in violent behaviour. Structural magnetic resonance imaging was used to investigate the whole brain, cerebellum, temporal lobe, lateral ventricles, caudate nucleus, putamen, thalamus, hippocampus, amygdala and the prefrontal, pre-motor, sensorimotor, occipito-parietal regions in 13 men with antisocial personality disorder, 13 men with schizophrenia and a history of violence, 15 men with schizophrenia without violent history and 15 healthy non-violent men. Compared to controls, the antisocial personality disorder group displayed reductions in whole brain volume and temporal lobe as well as increases in putamen volume. Both schizophrenia groups regardless of violence history exhibited increased lateral ventricle volume, while the schizophrenia group with violent history showed further abnormalities including reduced whole brain and hippocampal volumes and increased putamen size. The findings suggest that individuals with antisocial personality disorder as well as those with schizophrenia and a history of violence have common neural abnormalities, but also show neuro-anatomical differences. The processes by which they came to apparently common ground may, however, differ. The finding of temporal lobe reductions prevalent among those with antisocial personality disorder and hippocampal reduction in the violent men with schizophrenia contributes support for the importance of this region in mediating violent behaviour.

  10. The Chromosome 18 Clinical Resource Center.

    PubMed

    Cody, Jannine D; Hasi-Zogaj, Minire; Heard, Patricia; Hill, Annice; Rupert, David; Sebold, Courtney; Soileau, Bridgette; Hale, Daniel E

    2018-05-01

    The Chromosome 18 Clinical Research Center has created a pediatrician-friendly virtual resource center for managing patients with chromosome 18 abnormalities. To date, children with rare chromosome abnormalities have been cared for either symptomatically or palliatively as a reaction to the presenting medical problems. As we enter an era of genomic-informed medicine, we can provide children, even those with individually unique chromosome abnormalities, with proactive medical care and management based on the most contemporary data on their specific genomic change. It is problematic for practicing physicians to obtain and use the emerging data on specific genes because this information is derived from diverse sources (e.g., animal studies, case reports, in vitro explorations) and is often published in sources that are not easily accessible in the clinical setting. The Chromosome 18 Clinical Resource Center remedies this challenging problem by curating and synthesizing the data with clinical implications. The data are collected from our database of over 26 years of natural history and medical data from over 650 individuals with chromosome 18 abnormalities. The resulting management guides and video presentations are a first edition of this collated data specifically oriented to guide clinicians toward the optimization of care for each child. The chromosome 18 data and guides also serve as models for an approach to the management of any individual with a rare chromosome abnormality of which there are over 1,300 born every year in the US alone. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  11. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    PubMed

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,P<0.05). In addition, depression (79.9%) and HIV/AIDS-related symptoms such as fatigue (42.3%), back aches (40.7%), lack of appetite (33.9%), night sweats (31.7%) were more common among abnormal savda syndrome patients (P<0.05). Abnormal savda syndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  12. Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Proud, V.K.; Mussell, H.G.; Percy, A.K.

    1996-10-02

    To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS). The propositus, an 18-year-old man, was evaluated following an intracerebral hemorrhage at age 15 years and was noted to have marked hypotonia, motor delay with mental retardation, bladder diverticula, failure to thrive, and diarrhea from infancy; seizures from age 3 years; and abnormal hair (pili torti) and face, cutis laxa, and multiple joint dislocations. Radiographicmore » abnormalities included occipital exostoses, tortuous cerebral blood vessels with multiple branch occlusions, and hammer-shaped clavicles. Biochemical studies demonstrated reduced copper and ceruloplasmin levels in serum, and abnormal plasma catecholamine ratios. We reported previously the molecular defect in this family, a splice-site mutation that predicts formation of approximately 20% of the normal Menkes gene product. Here, we detail the clinical course and physical features and radiographic findings in these 4 individuals, and compare their phenotype with classical and mild Menkes and OHS. Unusual Menkes disease variants such as this may escape recognition due to anomalies that appear inconsistent with the diagnosis, particularly prolonged survival and later onset of seizures. Males with mental retardation and connective tissue abnormalities should be evaluated for biochemical evidence of defective copper transport. 28 refs., 8 figs.« less

  13. PREVENTION OF CONVERSION TO ABNORMAL TCD WITH HYDROXYUREA IN SICKLE CELL ANEMIA: A PHASE III INTERNATIONAL RANDOMIZED CLINICAL TRIAL

    PubMed Central

    Hankins, Jane S.; McCarville, M. Beth; Rankine-Mullings, Angela; Reid, Marvin E.; Lobo, Clarisse L.C.; Moura, Patricia G.; Ali, Susanna; Soares, Deanne; Aldred, Karen; Jay, Dennis W.; Aygun, Banu; Bennett, John; Kang, Guolian; Goldsmith, Jonathan C.; Smeltzer, Matthew P.; Boyett, James M.; Ware, Russell E.

    2015-01-01

    Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (≥200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was an NHLBI-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in children with SCA. SCATE enrolled 38 children from the United States, Jamaica, and Brazil [HbSS (36), HbSβ0-thalassemia (1), and HbSD (1), median age 5.4 years (range, 2.7-9.8)]. Due to slow patient accrual and administrative delays, SCATE was terminated early. In an intention-to-treat analysis, the cumulative incidence of abnormal conversion was 9% (95% CI 0 to 35%) in the hydroxyurea arm and 47% (95% CI 6 to 81%) in observation arm at 15 months (p=0.16). In post-hoc analysis according to treatment received, significantly fewer children on hydroxyurea converted to abnormal TCD velocities, compared to observation (0% versus 50%, p=0.02). After a mean of 10.1 months, a significant change in mean TCD velocity was observed with hydroxyurea treatment (−15.5 versus +10.2 cm/sec, p=0.02). No stroke events occurred in either arm. Hydroxyurea reduces TCD velocities in children with SCA and conditional velocities. PMID:26414435

  14. Transient abnormal Q waves during exercise electrocardiography

    PubMed Central

    Alameddine, F F; Zafari, A M

    2004-01-01

    Myocardial ischaemia during exercise electrocardiography is usually manifested by ST segment depression or elevation. Transient abnormal Q waves are rare, as Q waves indicate an old myocardial infarction. The case of a patient with exercise induced transient abnormal Q waves is reported. The potential mechanisms involved in the development of such an abnormality and its clinical implications are discussed. PMID:14676264

  15. The pattern of abnormalities on sperm analysis: A study of 1186 infertile male in Yasmin IVF clinic Jakarta

    NASA Astrophysics Data System (ADS)

    Aulia, S. N.; Lestari, S. W.; Pratama, G.; Harzief, A. K.; Sumapraja, K.; Hestiantoro, A.; Wiweko, B.

    2017-08-01

    A declined in semen quality resulted an increase of male infertility has been reported. The pattern of abnormalities differs from one country to another. Conflicting results from different studies may be influenced by many factor. The aims are to evaluate the pattern of semen analysis of male partners of infertile couples and identify the current status of the contribution of male factor towards the infertility in our environment. The study is a descriptive analysis of the semen analysis of male partners in infertile couples, who were present at Yasmin IVF Clinic, infertility clinic of a Tertiary Care University Teaching Hospital between 1st January 2012 and 31st December 2015. A total of 1186 consenting male partners of infertile couple were recruited into the study. According to 2010 WHO normal reference values for semen parameters, 795 (67%) of patients were normozoospermia which had normal semen parameters and 391 (33%) patients had abnormal semen parameters. Oligozospermia was evident in 155 (39.5%) patients, being the most common disorder observed. It is followed by azoospermia (24.4%), oligoasthenozospermia (17.8%), asthenozospermia (5.9%), oligoasthenotera-tozospermia (5,7%), teratozospermia (2.6%), asthenoteratozospermia (2.8%), cryptozoospermia (0.8%), necrozospermia (0.3%), and oligoteratozospermia (0.3%). Abnormal semen quality remains a significant contribution to the overall infertility with oligozospermia being the most common semen quality abnormality. This condition is an indication for the need to focus on the prevention and management of male infertility. In addition, further studies are needed to address possible etiologies and treatment in order to improve fertility rates.

  16. Video Taping and Abnormal Psychology: Dramatized Clinical Interviews.

    ERIC Educational Resources Information Center

    Lyons, Michael J.; And Others

    1984-01-01

    Students in an abnormal psychology course worked in teams to produce dramatizations of diagnostic interviews and then presented them in class. Positive and negative aspects of the activity are discussed. (RM)

  17. Brain Structure and Function Associated with a History of Sport Concussion: A Multi-Modal Magnetic Resonance Imaging Study.

    PubMed

    Churchill, Nathan; Hutchison, Michael; Richards, Doug; Leung, General; Graham, Simon; Schweizer, Tom A

    2017-02-15

    There is growing concern about the potential long-term consequences of sport concussion for young, currently active athletes. However, there remains limited information about brain abnormalities associated with a history of concussion and how they relate to clinical factors. In this study, advanced MRI was used to comprehensively describe abnormalities in brain structure and function associated with a history of sport concussion. Forty-three athletes (21 male, 22 female) were recruited from interuniversity teams at the beginning of the season, including 21 with a history of concussion and 22 without prior concussion; both groups also contained a balanced sample of contact and noncontact sports. Multi-modal MRI was used to evaluate abnormalities in brain structure and function. Athletes with a history of concussion showed frontal decreases in brain volume and blood flow. However, they also demonstrated increased posterior cortical volume and elevated markers of white matter microstructure. A greater number of prior concussions was associated with more extensive decreases in cerebral blood flow and insular volume, whereas recovery time from most recent concussion was correlated with reduced frontotemporal volume. White matter showed limited correlations with clinical factors, predominantly in the anterior corona radiata. This study provides the first evidence of the long-term effects of concussion on gray matter volume, blood flow, and white matter microstructure within a single athlete cohort. This was examined for a mixture of male and female athletes in both contact and noncontact sports, demonstrating the relevance of these findings for the overall sporting community.

  18. Attachment representations in mothers with abnormal illness behaviour by proxy.

    PubMed

    Adshead, Gwen; Bluglass, Kerry

    2005-10-01

    Abnormal illness behaviour by proxy (also known as factitious illness by proxy or Munchhausen syndrome by proxy) is a type of child maltreatment, the origins of which are poorly understood. To describe attachment representations in a cohort of mothers demonstrating abnormal illness behaviour by proxy. Sixty-seven mothers who had shown this behaviour took part in a semistructured interview assessing their attachment representations. Only 12 mothers (18%) were rated secure in terms of their own childhood attachments. There was evidence of unresolved trauma or loss reactions in 40 mothers (60%). Eighteen mothers (27%) gave unusually disorganised and incoherent accounts of attachment relationships in their own childhoods. The frequency of these attachment categories is higher than in normal non-clinical samples. Insecure attachment is a risk factor for this type of child maltreatment. Therapeutic interventions could be offered in relation to unresolved traumatic stress or bereavement responses. Further study of similar groups, such as mothers with sick children or mothers with histories of traumatic experience, would be a useful next step.

  19. International year of Chemistry 2011. A guide to the history of clinical chemistry.

    PubMed

    Kricka, Larry J; Savory, John

    2011-08-01

    This review was written as part of the celebration of the International Year of Chemistry 2011. In this review we provide a chronicle of the history of clinical chemistry, with a focus on North America. We outline major methodological advances and trace the development of professional societies and journals dedicated to clinical chemistry. This review also serves as a guide to reference materials for those interested in the history of clinical chemistry. The various resources available, in sound recordings, videos, moving images, image and document archives, museums, and websites dedicated to diagnostic company timelines, are surveyed. These resources provide a map of how the medical subspecialty of clinical chemistry arrived at its present state. This information will undoubtedly help visionaries to determine in which direction clinical chemistry will move in the future.

  20. Electrolyte abnormalities in cystic fibrosis: systematic review of the literature.

    PubMed

    Scurati-Manzoni, Elisabetta; Fossali, Emilio F; Agostoni, Carlo; Riva, Enrica; Simonetti, Giacomo D; Zanolari-Calderari, Maura; Bianchetti, Mario G; Lava, Sebastiano A G

    2014-06-01

    Cystic fibrosis per se can sometimes lead to hyponatremia, hypokalemia, hypochloremia or hyperbicarbonatemia. This tendency was first documented 60 years ago and has subsequently been confirmed in single case reports or small case series, most of which were retrospective. However, this issue has not been addressed analytically. We have therefore systematically reviewed and analyzed the available literature on this subject. This was a systematic review of the literature. The reports included in this review cover 172 subacute and 90 chronic cases of electrolyte imbalances in patients with cystic fibrosis. The male:female ratio was 1.57. Electrolyte abnormalities were mostly associated with clinically inapparent fluid volume depletion, mainly affected patients aged ≤2.5 years, frequently tended to recur and often were found before the diagnosis of cystic fibrosis was established. Subacute presentation often included an history of heat exposure, vomiting, excessive sweating and pulmonary infection. History of chronic presentation, in contrast, was often inconspicuous. The tendency to hypochloremia, hypokalemia and metabolic alkalosis was similar between subacute and chronic patients, with hyponatremia being more pronounced (P < 0.02) in subacute compared to chronic presentations. Subacute cases were treated parenterally; chronic ones were usually managed with oral salt supplementation. Retention of urea and creatinine was documented in 38 % of subacute cases. The findings of our review suggest that physicians should be aware that electrolyte abnormalities can occur both as a presenting and a recurring feature of cystic fibrosis.

  1. Early Pregnancy Diabetes Screening and Diagnosis: Prevalence, Rates of Abnormal Test Results, and Associated Factors.

    PubMed

    Mission, John F; Catov, Janet; Deihl, Tiffany E; Feghali, Maisa; Scifres, Christina

    2017-11-01

    To evaluate the prevalence of early diabetes screening in pregnancy, rates of abnormal diabetes test results before 24 weeks of gestation, and factors associated with early diabetes screening. This was a retrospective cohort study of all singleton deliveries from 2012 to 2014 among diverse clinical practices at a large academic medical center. We assessed rates of early (less than 24 weeks of gestation) and routine (at or beyond 24 weeks of gestation) diabetes screening, with abnormal test results defined using the Carpenter-Coustan criteria, a 50-g glucose challenge test result greater than 200 mg/dL, or a hemoglobin A1C level greater than 6.5%. Univariate and multivariate analyses were used to evaluate clinical and demographic determinants of screening and diagnosis. Overall, 1,420 of 11,331 (12.5%) women underwent early screening. Increasing body mass index (BMI) category, race, public insurance, history of gestational diabetes mellitus, a family history of diabetes, and chronic hypertension were associated with early screening. Early screening rates rose with increasing BMI category, but only 268 of 551 (48.6%) of women with class III obesity underwent early screening. Among those screened early, 2.0% of normal-weight women, 4.0% of overweight women, 4.2% of class I obese women, 3.8% of class II obese women, and 9.0% of class III obese women had abnormal early test results (P<.001). Early diabetes screening is used inconsistently, and many women with risk factors do not undergo early screening. A significant proportion of women with class III obesity will test positive for gestational diabetes mellitus before 24 weeks of gestation, and studies are urgently needed to assess the effect of early diabetes screening and diagnosis on perinatal outcomes in high-risk women.

  2. Complex patterns of abnormal heartbeats

    NASA Technical Reports Server (NTRS)

    Schulte-Frohlinde, Verena; Ashkenazy, Yosef; Goldberger, Ary L.; Ivanov, Plamen Ch; Costa, Madalena; Morley-Davies, Adrian; Stanley, H. Eugene; Glass, Leon

    2002-01-01

    Individuals having frequent abnormal heartbeats interspersed with normal heartbeats may be at an increased risk of sudden cardiac death. However, mechanistic understanding of such cardiac arrhythmias is limited. We present a visual and qualitative method to display statistical properties of abnormal heartbeats. We introduce dynamical "heartprints" which reveal characteristic patterns in long clinical records encompassing approximately 10(5) heartbeats and may provide information about underlying mechanisms. We test if these dynamics can be reproduced by model simulations in which abnormal heartbeats are generated (i) randomly, (ii) at a fixed time interval following a preceding normal heartbeat, or (iii) by an independent oscillator that may or may not interact with the normal heartbeat. We compare the results of these three models and test their limitations to comprehensively simulate the statistical features of selected clinical records. This work introduces methods that can be used to test mathematical models of arrhythmogenesis and to develop a new understanding of underlying electrophysiologic mechanisms of cardiac arrhythmia.

  3. Natural history of splenic vascular abnormalities after blunt injury: A Western Trauma Association multicenter trial.

    PubMed

    Zarzaur, Ben L; Dunn, Julie A; Leininger, Brian; Lauerman, Margaret; Shanmuganathan, Kathirkamanthan; Kaups, Krista; Zamary, Kirellos; Hartwell, Jennifer L; Bhakta, Ankur; Myers, John; Gordy, Stephanie; Todd, Samuel R; Claridge, Jeffrey A; Teicher, Erik; Sperry, Jason; Privette, Alicia; Allawi, Ahmed; Burlew, Clay Cothren; Maung, Adrian A; Davis, Kimberly A; Cogbill, Thomas; Bonne, Stephanie; Livingston, David H; Coimbra, Raul; Kozar, Rosemary A

    2017-12-01

    Following blunt splenic injury, there is conflicting evidence regarding the natural history and appropriate management of patients with vascular injuries of the spleen such as pseudoaneurysms or blushes. The purpose of this study was to describe the current management and outcomes of patients with pseudoaneurysm or blush. Data were collected on adult (aged ≥18 years) patients with blunt splenic injury and a splenic vascular injury from 17 trauma centers. Demographic, physiologic, radiographic, and injury characteristics were gathered. Management and outcomes were collected. Univariate and multivariable analyses were used to determine factors associated with splenectomy. Two hundred patients with a vascular abnormality on computed tomography scan were enrolled. Of those, 14.5% were managed with early splenectomy. Of the remaining patients, 59% underwent angiography and embolization (ANGIO), and 26.5% were observed. Of those who underwent ANGIO, 5.9% had a repeat ANGIO, and 6.8% had splenectomy. Of those observed, 9.4% had a delayed ANGIO, and 7.6% underwent splenectomy. There were no statistically significant differences between those observed and those who underwent ANGIO. There were 111 computed tomography scans with splenic vascular injuries available for review by an expert trauma radiologist. The concordance between the original classification of the type of vascular abnormality and the expert radiologist's interpretation was 56.3%. Based on expert review, the presence of an actively bleeding vascular injury was associated with a 40.9% risk of splenectomy. This was significantly higher than those with a nonbleeding vascular injury. In this series, the vast majority of patients are managed with ANGIO and usually embolization, whereas splenectomy remains a rare event. However, patients with a bleeding vascular injury of the spleen are at high risk of nonoperative failure, no matter the strategy used for management. This group may warrant closer observation or

  4. Age-related clinical and biological features of PTEN abnormalities in T-cell acute lymphoblastic leukaemia.

    PubMed

    Tesio, M; Trinquand, A; Ballerini, P; Hypolite, G; Lhermitte, L; Petit, A; Ifrah, N; Baruchel, A; Dombret, H; Macintyre, E; Asnafi, V

    2017-12-01

    The tumour suppressor gene PTEN is commonly altered in T-cell acute lymphoblastic leukaemia but its prognostic impact is still debated. We screened a cohort of 573 fully characterised adult and paediatric T-cell acute lymphoblastic leukaemia (T-ALL) patients for genomic PTEN abnormalities. PTEN-inactivating mutations and/or deletions were identified in 91 cases (16%), including 18% of paediatric (49/277) and 14% of adult cases (42/296). Thirty-four patients harboured only mutations, 12 cases demonstrated only large deletions and 9 only microdeletions. About 36 patients had combined alterations. Different mechanisms of PTEN inactivation predicted differences in the clinical outcome for both adult and paediatric patients treated according to the GRAALL03/05 and FRALLE2000 protocols. Whereas large deletions predicted lower 5-year overall survival (P=0.0053 in adults, P=0.001 in children) and disease-free survival (P=0.0009 in adults, P=0.0002 in children), mutations were not associated with a worse prognosis. The prognostic impact of PTEN loss is therefore linked to the underlying type of genomic abnormality, both in adult and paediatric T-ALLs, demonstrating that detailed analysis of the type of abnormality type would be useful to refine risk stratification.

  5. Myocardial perfusion abnormalities in asymptomatic patients with systemic lupus erythematosus

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Hosenpud, J.D.; Montanaro, A.; Hart, M.V.

    1984-08-01

    Accelerated coronary artery disease and myocardial infarction in young patients with systemic lupus erythematosus is well documented; however, the prevalence of coronary involvement is unknown. Accordingly, 26 patients with systemic lupus were selected irrespective of previous cardiac history to undergo exercise thallium-201 cardiac scintigraphy. Segmental perfusion abnormalities were present in 10 of the 26 studies (38.5 percent). Five patients had reversible defects suggesting ischemia, four patients had persistent defects consistent with scar, and one patient had both reversible and persistent defects in two areas. There was no correlation between positive thallium results and duration of disease, amount of corticosteroid treatment,more » major organ system involvement or age. Only a history of pericarditis appeared to be associated with positive thallium-201 results (p less than 0.05). It is concluded that segmental myocardial perfusion abnormalities are common in patients with systemic lupus erythematosus. Whether this reflects large-vessel coronary disease or small-vessel abnormalities remains to be determined.« less

  6. Cervical cancer prevention knowledge and abnormal Pap test experiences among women living with HIV/AIDS

    PubMed Central

    Wigfall, Lisa T.; Bynum, Shalanda A; Brandt, Heather M.; Friedman, Daniela B.; Bond, Sharon M.; Lazenby, Gweneth B.; Richter, Donna L.; Glover, Saundra H.; Hébert, James R.

    2014-01-01

    Background Cervical cancer prevention knowledge deficits persist among women living with HIV/AIDS (WLHA) despite increased risk of developing cervical dysplasia/cancer. We examined associations between WLHA’s cervical cancer prevention knowledge and abnormal Pap test history. Methods We recruited 145 urban and rural WLHA from Ryan White-funded clinics and AIDS service organizations located in the southeastern United States between March 2011 and April 2012. For this analysis, women who reported a history of cervical cancer (n=3) or had a complete hysterectomy (n=14), and observations with missing data (n=22) were excluded. Stata/IC 13 was used to perform cross-tabulations and chi-squared tests. Results Our sample included 106 predominantly non-Hispanic Black (92%) WLHA. Mean age was 46.3±10.9 years. Half (50%) had ≤ high school education. One-third (37%) had low health literacy. The majority (83%) had a Pap test <1 year ago and 84% knew that WLHA should have a Pap test every year, once two tests are normal. Many (68%) have had an abnormal Pap test. Abnormal Pap test follow-up care knowledge varied. While 86% knew follow-up care could include a repeat Pap test, only 56% knew this could also include an HPV test. Significantly more women who had an abnormal Pap test knew follow-up care could include a biopsy (p=0.001). Conclusions For WLHA to make informed/shared decisions about their cervical health, they need to be knowledgeable about cervical cancer care options across the cancer control continuum. Providing WLHA with prevention knowledge beyond screening recommendations seems warranted given their increased risk of developing cervical dysplasia/neoplasia. PMID:24928481

  7. A Novel Technique for Clinical Assessment of Laryngeal Nerve Conduction: Normal and Abnormal Results

    PubMed Central

    Sulica, Lucian; Carey, Bridget; Branski, Ryan C.

    2014-01-01

    Objectives/Hypothesis To describe a novel conduction study of the laryngeal nerves, including normal values and abnormal findings. Study Design Prospective nonrandomized. Methods Seventeen healthy adult volunteers, as well as three patients with clinically identified laryngeal neuropathy, underwent low-level brief electrical stimulation of the laryngeal mucosa by means of a wire inserted via a transnasal flexible laryngoscope. Bilateral hookwire electrodes recorded the result in the laryngeal adductor muscles. Results This study yields an early response ipsilateral to the side of stimulation (LR1), which is uniform and consistent (right 5 13.2 6 0.80 msec; left 5 15.2 6 1.20 msec), and late bilateral responses (ipsilateral LR2 [LR2i] and contralateral LR2 [LR2c]), which exhibit greater variation in latency and morphology (right LR2i 5 50.5 6 3.38 msec; left LR2i 5 52.2 msec; right LR2c 5 50.7 6 4.26; left LR2c 5 50.6 6 4.07). Findings in abnormal patients differ significantly from normal, consistent with the distribution of neuropathy. Conclusions We describe a novel, clinically applicable conduction study of laryngeal nerves. Normative electrodiagnostic values and variations of the reflex responses of the laryngeal adductor muscles in response to irritative stimulation of the laryngeal mucosa (Laryngeal Closure Reflex) are proposed. By enabling the determination of electrophysiological parameters of the superior laryngeal and recurrent laryngeal branches of cranial nerve X (CN X), this procedure, which is used as an adjunct to laryngeal electromyography, may provide earlier and more accurate information regarding the extent and grade of nerve injury. Because injury grade relates directly to prognosis, the information derived from this test may have clinical relevance in determining optimal treatment. Level of Evidence 4. PMID:23835889

  8. An audit comparing the discrepancies between a verbal enquiry, a written history, and an electronic medical history questionnaire: a suggested medical history/social history form for clinical practice.

    PubMed

    Carey, Barbara; Stassen, Leo

    2011-01-01

    In everyday practice, dentists are confronted with an increasing number of patients with complex medical problems. There is divergence of opinion among dentists regarding how to obtain a thorough medical/social history. The objective of this audit is to produce a standardised medical history in order to identify the medically compromised patient attending the general dental practitioner. At present in the Dublin Dental School and Hospital, there are three different methods: a verbal enquiry, and a written or an electronic questionnaire. This study was undertaken to identify any differences or discrepancies between each of the three methods in eliciting the medical history, and to determine whether one method was superior to the others. The results are used to recommend the most accurate method for obtaining a thorough health history for practitioners, both in a hospital and a general practice setting. One hundred and fifty charts within the Dublin Dental School and Hospital of all new patients at a randomly chosen clinic were selected and then audited: 50 charts from the oral and maxillofacial surgery assessment clinics (written pro forma questionnaire), 50 from the oral medicine clinic (consultant verbal enquiry), and 50 from A&E (electronic questionnaire) were compared to determine if an adequate medical history was taken, and to detect differences and discrepancies in patients' medical histories. The records pertained to 91 females and 59 males. The age distribution was 5-87 years for females and 3-85 years for males. The mean age was 45 years for females and 42 years for males. The written patient-administered pro forma questionnaire, combined with verbal verification by the clinician/consultant, proved to be the most useful and consistent method for detecting medical problems in dental patients. The consultant verbal enquiry alone showed more inconsistency than the other two methods. Based on these results, a modified questionnaire for use within all

  9. The Drivers of Discretionary Utilization: Clinical History Versus Physician Supply.

    PubMed

    Ruhnke, Gregory W; Manning, Willard G; Rubin, David T; Meltzer, David O

    2017-05-01

    Because the effect of physician supply on utilization remains controversial, literature based on non-Medicare populations is sparse, and a physician supply expansion is under way, the potential for physician-induced demand across diverse populations is important to understand. A substantial proportion of gastrointestinal endoscopies may be inappropriate. The authors analyzed the impact of physician supply, practice patterns, and clinical history on esophagogastroduodenoscopy (EGD, defined as discretionary) among patients hospitalized with lower gastrointestinal bleeding (LGIB). Among 34,344 patients hospitalized for LGIB from 2004 to 2009, 43.1% and 21.3% had a colonoscopy or EGD, respectively, during the index hospitalization or within 6 months after. Linking to the Dartmouth Atlas via patients' hospital referral region, gastroenterologist density and hospital care intensity (HCI) index were ascertained. Adjusting for age, gender, comorbidities, and race/education indicators, the association of gastroenterologist density, HCI index, and history of upper gastrointestinal disease with EGD was estimated using logistic regression. EGD was not associated with gastroenterologist density or HCI index, but was associated with a history of upper gastrointestinal disease (OR 2.30; 95% CI 2.17-2.43), peptic ulcer disease (OR 4.82; 95% CI 4.26-5.45), and liver disease (OR 1.34; 95% CI 1.18-1.54). Among patients hospitalized with LGIB, large variation in gastroenterologist density did not predict EGD, but relevant clinical history did, with association strengths commensurate with risk for upper gastrointestinal bleeding. In the scenario studied, no evidence was found that specialty physician supply increases will result in more discretionary care within commercially insured populations.

  10. Chromosomal abnormalities are associated with aging and cancer

    Cancer.gov

    Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a prior history of cancer. The studies found that these

  11. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

    PubMed

    Parini, Rossella; De Lorenzo, Paola; Dardis, Andrea; Burlina, Alberto; Cassio, Alessandra; Cavarzere, Paolo; Concolino, Daniela; Della Casa, Roberto; Deodato, Federica; Donati, Maria Alice; Fiumara, Agata; Gasperini, Serena; Menni, Francesca; Pagliardini, Veronica; Sacchini, Michele; Spada, Marco; Taurisano, Roberta; Valsecchi, Maria Grazia; Di Rocco, Maja; Bembi, Bruno

    2018-02-08

    Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between clinical outcome and patients' cross-reactive immunological status (CRIM), being CRIM-negative status a negative prognostic factor. At the same time limited data are available on the long-term treatment in CRIM-positive infants. A retrospective multicentre observational study was designed to analyse the long-term effectiveness of ERT in IOPD. Thirteen Italian centres spread throughout the country were involved and a cohort of 28 patients (15 females, 13 males, born in the period: February 2002-January 2013) was enrolled. IOPD diagnosis was based on clinical symptoms, enzymatic and molecular analysis. All patients received ERT within the first year of life. Clinical, laboratory, and functional data (motor, cardiac and respiratory) were collected and followed for a median period of 71 months (5 years 11 months). Median age at onset, diagnosis and start of ERT were 2, 3 and 4 months, respectively. CRIM status was available for 24/28 patients: 17/24 (71%) were CRIM-positive. Nineteen patients (67%) survived > 2 years: 4 were CRIM-negative, 14 CRIM-positive and one unknown. Six patients (5 CRIM-positive and one unknown) never needed ventilation support (21,4%) and seven (6 CRIM-positive and one unknown: 25%) developed independent ambulation although one subsequently lost this function. Brain imaging study was performed in 6 patients and showed peri-ventricular white matter abnormalities in all of them. Clinical follow-up confirmed the better prognosis for CRIM-positive patients, though a slow, progressive worsening of motor and/or respiratory functions was detected in 8 patients. These data are the result of the longest independent retrospective study on ERT in IOPD reported so far outside clinical trials. The data obtained

  12. I PREPARE: development and clinical utility of an environmental exposure history mnemonic.

    PubMed

    Paranzino, Grace K; Butterfield, Patricia; Nastoff, Teresa; Ranger, Cherryll

    2005-01-01

    The I PREPARE environmental exposure history mnemonic is a quick reference tool created for primary care providers. Health care providers (N = 159) were asked to evaluate a prototype mnemonic, to suggest new health history questions, and to propose the deletion of less relevant questions. The goal of this evaluation was to create a practical and clinically relevant mnemonic, rather than to obtain quantitative estimates of validity. The final I PREPARE mnemonic cues the provider to "Investigate potential exposures;" ask questions related to "Present work," "Residence," "Environmental concerns," "Past work," and "Activities;" provide "Referrals and resources;" and "Educate" the patient by reviewing a checklist of strategies to prevent or minimize exposures. The sequence of I PREPARE makes intuitive sense by cueing the provider to ask specific questions and provide educational materials to the patient. National improvements in the quality of environmental exposure history data are predicated in part on the creation of simple and convenient tools for use in clinical practice.

  13. The Effect of History of Abnormal Pap Smear or Preceding HPV infection on the Humoral Immune Response to Quadrivalent Human Papilloma virus (qHPV) Vaccine in Women with Systemic Lupus Erythematosus.

    PubMed

    Dhar, J Patricia; Essenmacher, Lynnette; Dhar, Renee; Magee, Ardella; Ager, Joel; Sokol, Robert J

    2018-04-30

    To determine if natural human papillomavirus (HPV) infection would induce an anamnestic response to quadrivalent (qHPV) vaccine in women with Systemic Lupus Erythematosus (SLE). Thirty four women (19-50 years) with mild to moderate and minimally active or inactive SLE received standard qHPV vaccine. Neutralizing antibody titers to HPV 6, 11, 16 and18 were evaluated pre- and post- vaccine using HPV competitive Luminex Immunoassay. For each HPV type, logistic regressions were performed to explore the relationship between a positive titer at baseline with their final geometric mean titer and with the rise in titer. Fisher's Exact Test was used to assess the association of at least one positive HPV antibody test at baseline and history of abnormal pap. History of abnormal pap smear/cervical neoplasia occurred in 52.9%. Baseline anti HPV antibody titers: 21% = negative for all 4 HPV types, 79% = positive for ≥1 of the HPV types. Statistical analysis showed: those with a history of abnormal pap smear/cervical neoplasia were likely to have a positive anti-HPV antibody result pre-vaccine to ≥ 1 of the 4 types, p = 0.035 Fisher's Exact Test. In general, HPV exposed women showed higher post vaccine GMTs than HPV unexposed women with higher point estimates. However, when examining the rise in titers using logistic regression, there was no evidence of an anamnestic response. Prior HPV infection and cervical neoplasia in SLE are linked with no anamnestic response to HPV vaccine. This supports not checking HPV-antibodies pre-vaccine. Women with SLE should be vaccinated for HPV.

  14. Nightmare and Abnormal Dreams: Rare Side Effects of Metformin?

    PubMed Central

    Yanto, Theo Audi; Kosasih, Felicia Nathania

    2018-01-01

    Background Metformin is widely known as an antidiabetic agent which has significant gastrointestinal side effects, but nightmares and abnormal dreams as its adverse reactions are not well reported. Case Presentation Herein we present a case of 56-year-old male patient with no known history of recurrent nightmares and sleep disorder, experiencing nightmare and abnormal dreams directly after consumption of 750 mg extended release metformin. He reported his dream as an unpleasant experience which awakened him at night with negative feelings. The nightmare only lasted for a night, but his dreams every night thereafter seemed abnormal. The dreams were vivid and indescribable. The disappearance and occurrence of abnormal dreams ensued soon after the drug was discontinued and rechallenged. The case was assessed using Naranjo Adverse Drug Reaction (ADR) probability scale and resulted as probable causality. Conclusion Metformin might be the underlying cause of nightmare and abnormal dreams in this patient. More studies are needed to confirm the association and causality of this findings. PMID:29581904

  15. Power Doppler Ultrasound Evaluation of Peripheral Joint, Entheses, Tendon, and Bursa Abnormalities in Psoriatic Patients: A Clinical Study.

    PubMed

    Tang, Yuanjiao; Yang, Yujia; Xiang, Xi; Wang, Liyun; Zhang, Lingyan; Qiu, Li

    2018-06-01

    To evaluate the prevalence rates of peripheral joint, enthesis, tendon, and bursa abnormalities by power Doppler (PD) ultrasonic examination in patients with psoriatic arthritis (PsA), psoriatic patients without clinical signs of arthritis (non-PsA psoriasis group), and healthy individuals, to detect subclinical PsA. A total of 253 healthy volunteers, 242 non-PsA psoriatic patients, and 86 patients with PsA were assessed by 2-dimensional and power Doppler (PD) ultrasound. Peripheral joint, enthesis, tendon, and bursa abnormalities were observed, characterizing abnormal PD. The affected patients and sites with abnormalities in various ages were compared among groups; PD signal grades for the abnormalities were also compared. In the PsA group, significantly higher percentages of sites showing joint effusion/synovitis, enthesitis, and tenosynovitis in all age groups, and markedly higher rates of sites with bursitis were found in young and middle age groups, compared with the non-PsA and control groups (all p < 0.01). Meanwhile, the non-PsA group showed significantly higher rates of joint effusion/synovitis and enthesitis sites, and elevated PD signal grades of synovitis, enthesitis, and tenosynovitis in comparison with the control group, both in young and middle age groups (all p < 0.01). Patients with PsA have high percentages and PD signal grades of peripheral joint, tendon, enthesis, and bursa involvement. Young and middle-aged non-PsA patients have high synovitis and enthesitis percentages, and elevated PD signal grades of synovitis, enthesitis, and tenosynovitis.

  16. Prevention of conversion to abnormal transcranial Doppler with hydroxyurea in sickle cell anemia: A Phase III international randomized clinical trial.

    PubMed

    Hankins, Jane S; McCarville, Mary Beth; Rankine-Mullings, Angela; Reid, Marvin E; Lobo, Clarisse L C; Moura, Patricia G; Ali, Susanna; Soares, Deanne P; Aldred, Karen; Jay, Dennis W; Aygun, Banu; Bennett, John; Kang, Guolian; Goldsmith, Jonathan C; Smeltzer, Matthew P; Boyett, James M; Ware, Russell E

    2015-12-01

    Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (≥200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was a National Heart, Lung, and Blood Institute-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in children with SCA. SCATE enrolled 38 children from the United States, Jamaica, and Brazil [HbSS (36), HbSβ(0) -thalassemia (1), and HbSD (1), median age = 5.4 years (range, 2.7-9.8)]. Because of the slow patient accrual and administrative delays, SCATE was terminated early. In an intention-to-treat analysis, the cumulative incidence of abnormal conversion was 9% (95% CI = 0-35%) in the hydroxyurea arm and 47% (95% CI = 6-81%) in observation arm at 15 months (P = 0.16). In post hoc analysis according to treatment received, significantly fewer children on hydroxyurea converted to abnormal TCD velocities when compared with observation (0% vs. 50%, P = 0.02). After a mean of 10.1 months, a significant change in mean TCD velocity was observed with hydroxyurea treatment (-15.5 vs. +10.2 cm/sec, P = 0.02). No stroke events occurred in either arm. Hydroxyurea reduces TCD velocities in children with SCA and conditional velocities. © 2015 Wiley Periodicals, Inc.

  17. Does a family history of RA influence the clinical presentation and treatment response in RA?

    PubMed

    Frisell, Thomas; Saevarsdottir, Saedis; Askling, Johan

    2016-06-01

    To assess whether family history of rheumatoid arthritis (RA), among the strongest risk factors for developing RA, also carries information on the clinical presentation and treatment response. The prospective Swedish Rheumatology register was linked to family history of RA, defined as diagnosed RA in any first-degree relative, ascertained through the Swedish Multi-Generation and Patient registers. Clinical presentation was examined among patients with early RA 2000-2011 (symptom onset <12 months before inclusion, N=6869), and response to methotrexate (MTX) monotherapy in the subset starting this treatment (N=4630). Response to tumour necrosis factor inhibitors (TNFi) was examined among all patients with RA starting a TNFi as the first biological disease-modifying antirheumatic drug 2000-2011 (N=9249). Association of family history with clinical characteristics, drug survival, European League Against Rheumatism (EULAR) response and change in disease activity at 3 and 6 months was estimated using linear and generalised logistic regression models. Correlation in relatives' response measures was also assessed. Patients with early RA with family history of RA were more often rheumatoid factor positive, but with no other clinically meaningful differences in their clinical presentation. Family history of RA did not predict response to MTX or TNFi, with the possible exception of no versus good EULAR response to TNFi at 6 months (OR=1.4, 95% CI 1.1 to 1.7). Having a relative who discontinued TNFi within a year increased the odds of doing the same (OR=3.7, 95% CI 1.8 to 7.5), although we found no significant familial correlations in change in disease activity measures. Family history of RA did not modify the clinical presentation of RA or predict response to standard treatment with MTX or TNFi. Treatment response, particularly drug survival, may itself be familial. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a

  18. The utility of clinical findings to predict laboratory values in hypertensive disorders of pregnancy.

    PubMed

    So, Jane; Young, Elizabeth; Crnosija, Natalie; Chappelle, Joseph

    2016-04-01

    Preeclampsia is the 2nd leading cause of maternal mortality in the United States. Women with new-onset or worsening hypertension are commonly evaluated for laboratory abnormalities. We aim to investigate whether demographic and/or clinical findings correlate with abnormal laboratory values. A retrospective chart review of women who presented for evaluation of hypertension in pregnancy during 2010. Demographic information, medical history, symptoms, vital signs, and laboratory results were collected. Bivariate analysis was used to investigate associations between predictors and the outcome. Of the 481 women in the sample, 22 were identified as having abnormal laboratory test results (4.6%). Women who reported right upper quadrant pain or tenderness had significantly increased likelihood of having laboratory abnormalities compared to those without the complaint. Only a small percentage of women evaluated were determined to have abnormal laboratory findings, predominantly among women with severe preeclampsia. Right upper quadrant pain or tenderness was positively correlated with laboratory abnormalities. The restriction of laboratory analysis in women with clinical evidence of severe disease may be warranted - a broader study should, however, first be used to confirm our findings.

  19. Development of a decision support tool to facilitate primary care management of patients with abnormal liver function tests without clinically apparent liver disease [HTA03/38/02]. Abnormal Liver Function Investigations Evaluation (ALFIE).

    PubMed

    Donnan, Peter T; McLernon, David; Steinke, Douglas; Ryder, Stephen; Roderick, Paul; Sullivan, Frank M; Rosenberg, William; Dillon, John F

    2007-04-16

    Liver function tests (LFTs) are routinely performed in primary care, and are often the gateway to further invasive and/or expensive investigations. Little is known of the consequences in people with an initial abnormal liver function (ALF) test in primary care and with no obvious liver disease. Further investigations may be dangerous for the patient and expensive for Health Services. The aims of this study are to determine the natural history of abnormalities in LFTs before overt liver disease presents in the population and identify those who require minimal further investigations with the potential for reduction in NHS costs. A population-based retrospective cohort study will follow up all those who have had an incident liver function test (LFT) in primary care to subsequent liver disease or mortality over a period of 15 years (approx. 2.3 million tests in 99,000 people). The study is set in Primary Care in the region of Tayside, Scotland (pop approx. 429,000) between 1989 and 2003. The target population consists of patients with no recorded clinical signs or symptoms of liver disease and registered with a GP. The health technologies being assessed are LFTs, viral and auto-antibody tests, ultrasound, CT, MRI and liver biopsy. The study will utilise the Epidemiology of Liver Disease In Tayside (ELDIT) database to determine the outcomes of liver disease. These are based on hospital admission data (Scottish Morbidity Record 1), dispensed medication records, death certificates, and examination of medical records from Tayside hospitals. A sample of patients (n = 150) with recent initial ALF tests or invitation to biopsy will complete questionnaires to obtain quality of life data and anxiety measures. Cost-effectiveness and cost utility Markov model analyses will be performed from health service and patient perspectives using standard NHS costs. The findings will also be used to develop a computerised clinical decision support tool. The results of this study will be

  20. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

    PubMed Central

    Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal’s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities. PMID:23399831

  1. T wave abnormalities, high body mass index, current smoking and high lipoprotein (a) levels predict the development of major abnormal Q/QS patterns 20 years later. A population-based study

    PubMed Central

    Moller, Christina Strom; Byberg, Liisa; Sundstrom, Johan; Lind, Lars

    2006-01-01

    Background Most studies on risk factors for development of coronary heart disease (CHD) have been based on the clinical outcome of CHD. Our aim was to identify factors that could predict the development of ECG markers of CHD, such as abnormal Q/QS patterns, ST segment depression and T wave abnormalities, in 70-year-old men, irrespective of clinical outcome. Methods Predictors for development of different ECG abnormalities were identified in a population-based study using stepwise logistic regression. Anthropometrical and metabolic factors, ECG abnormalities and vital signs from a health survey of men at age 50 were related to ECG abnormalities identified in the same cohort 20 years later. Results At the age of 70, 9% had developed a major abnormal Q/QS pattern, but 63% of these subjects had not been previously hospitalized due to MI, while 57% with symptomatic MI between age 50 and 70 had no major Q/QS pattern at age 70. T wave abnormalities (Odds ratio 3.11, 95% CI 1.18–8.17), high lipoprotein (a) levels, high body mass index (BMI) and smoking were identified as significant independent predictors for the development of abnormal major Q/QS patterns. T wave abnormalities and high fasting glucose levels were significant independent predictors for the development of ST segment depression without abnormal Q/QS pattern. Conclusion T wave abnormalities on resting ECG should be given special attention and correlated with clinical information. Risk factors for major Q/QS patterns need not be the same as traditional risk factors for clinically recognized CHD. High lipoprotein (a) levels may be a stronger risk factor for silent myocardial infarction (MI) compared to clinically recognized MI. PMID:16519804

  2. The Drivers of Discretionary Utilization: Clinical History Versus Physician Supply

    PubMed Central

    Ruhnke, Gregory W.; Manning, Willard G.; Rubin, David T.; Meltzer, David O.

    2016-01-01

    Purpose Since the effect of physician supply on utilization remains controversial, literature based on non-Medicare populations is sparse, and a physician supply expansion is underway, the potential for physician-induced demand across diverse populations is important to understand. A substantial proportion of gastrointestinal endoscopies may be inappropriate. The authors analyzed the impact of physician supply, practice patterns, and clinical history on esophagogastroduodenoscopy (EGD, defined as discretionary) among patients hospitalized with lower gastrointestinal bleeding (LGIB). Method Among 34,344 patients hospitalized for LGIB from 2004–2009, 43.1% and 21.3% had a colonoscopy or EGD, respectively, during the index hospitalization or within 6 months after. Linking to the Dartmouth Atlas via patients’ hospital referral region, gastroenterologist density and hospital care intensity (HCI) index were ascertained. Adjusting for age, gender, comorbidities, and race/education indicators, the association of gastroenterologist density, HCI index, and history of upper GI disease with EGD was estimated using logistic regression. Results EGD was not associated with gastroenterologist density or HCI index, but was associated with a history of any upper gastrointestinal disease (OR 2.30, 95% CI) 2.17–2.43), peptic ulcer disease (OR 4.82, 95% CI 4.26–5.45), and liver disease (OR 1.34, 95% CI 1.18–1.54). Conclusions Among patients hospitalized with LGIB, large variation in gastroenterologist density did not predict EGD, but relevant clinical history did, with association strengths commensurate with risk for upper gastrointestinal bleeding. In the scenario studied, the authors found no evidence that specialty physician supply increases will result in more discretionary care within commercially insured populations. PMID:28441679

  3. Clinical accuracy of abnormal cell-free fetal DNA results for the sex chromosomes.

    PubMed

    Scibetta, Emily W; Gaw, Stephanie L; Rao, Rashmi R; Silverman, Neil S; Han, Christina S; Platt, Lawrence D

    2017-12-01

    To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SCs). This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice from March 2013 to July 2015. Cell-free DNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings. Primary outcome was concordance with karyotype or postnatal evaluation. Of 50 abnormal cfDNA results for SC, 31 patients (62%) were positive for SCA, 13 (26%) were inconclusive, and 6 (12%) were sex discordant on US. Of SCA results, 19 (61%) were reported as 45,X and 12 (39%) were SC trisomy. Abnormal karyotypes were confirmed in 8/23 (35%) of SC aneuploidy and 1/5 (20%) of inconclusive results. Abnormal SC cfDNA results were associated with in vitro fertilization (P = .001) and twins (P < .001). Sex discordance between cfDNA and US was associated with twin gestation (P < .001). In our cohort, abnormal SC cfDNA results were associated with in vitro fertilization and twins. Our results indicate cfDNA for sex prediction in twins of limited utility. Positive predictive value and sensitivity for SC determination were lower than previously reported. © 2017 John Wiley & Sons, Ltd.

  4. Clinical reasoning in feline epilepsy: Which combination of clinical information is useful?

    PubMed

    Stanciu, Gabriela-Dumitrita; Packer, Rowena Mary Anne; Pakozdy, Akos; Solcan, Gheorghe; Volk, Holger Andreas

    2017-07-01

    We sought to identify the association between clinical risk factors and the diagnosis of idiopathic epilepsy (IE) or structural epilepsy (SE) in cats, using statistical models to identify combinations of discrete parameters from the patient signalment, history and neurological examination findings that could suggest the most likely diagnosis. Data for 138 cats with recurrent seizures were reviewed, of which 110 were valid for inclusion. Seizure aetiology was classified as IE in 57% and SE in 43% of cats. Binomial logistic regression analyses demonstrated that pedigree status, older age at seizure onset (particularly >7years old), abnormal neurological examinations, and ictal vocalisation were associated with a diagnosis of SE compared to IE, and that ictal salivation was more likely to be associated with a diagnosis of IE than SE. These findings support the importance of considering inter-ictal neurological deficits and seizure history in clinical reasoning. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Implication of sperm chromosomal abnormalities in recurrent abortion and multiple implantation failure.

    PubMed

    Caseiro, Ana Lara; Regalo, Ana; Pereira, Elisa; Esteves, Telma; Fernandes, Fernando; Carvalho, Joaquim

    2015-10-01

    Currently, some infertility treatment centres provide sperm karyotype analysis, although the impact of sperm chromosomal abnormalities on fertility is not yet fully understood. Several studies using fluorescence in-situ hybridization (FISH) to analyse sperm chromosomal constitution discovered that the incidence of aneuploidy is increased in individuals with a history of repeated abortion or implantation failure and is even higher in cases of oligoasthenoteratozoospermia (OAT), abnormal somatic karyotype or in spermatozoa retrieved directly from the testis or epididymis, showing that the application of FISH in these cases may be of some benefit for improving the reproductive outcome. This article presents the results of clinical trials of FISH analysis on spermatozoa, the medical indications for performing this examination, its results in infertile patients and the advantages when performing genetic counselling prior to treatment. Also discussed is the possibility of applying the latest techniques of genetic analysis in these cases and the potential benefits for improving the prognosis of male infertility. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  6. Cerebral cavernous malformations: natural history and clinical management.

    PubMed

    Gross, Bradley A; Du, Rose

    2015-01-01

    Cavernous malformations (CMs) are angiographically-occult clusters of dilated sinusoidal channels that may present clinically with seizures, focal neurological deficits and/or hemorrhage. Across natural history studies, the annual hemorrhage rate ranged from 1.6-3.1% per patient-year, decreasing to 0.08-0.2% per patient-year for incidental CMs and to 0.3-0.6% for the collective group of unruptured CMs. Prior hemorrhage is a significant risk factor for subsequent CM hemorrhage. Hemorrhage clustering, particularly within the first 2 years, is an established phenomenon that may confound results of natural history studies evaluating the rate of rehemorrhage. Indeed, rehemorrhage rates for hemorrhagic CMs range from 4.5-22.9% in the literature. Surgical resection is the gold standard treatment for surgically-accessible, symptomatic CMs. Incidental CMs or minimally symptomatic, surgically inaccessible eloquent lesions may be considered for observation. Stereotactic radiosurgery is a controversial treatment approach of consideration only for cases of highly aggressive, surgically inaccessible CMs.

  7. [Liver enzyme abnormalities among oil refinery workers].

    PubMed

    Carvalho, Fernando Martins; Silvany Neto, Annibal Muniz; Mendes, João Luiz Barberino; Cotrim, Helma Pinchemel; Nascimento, Ana Lísia Cunha; Lima Júnior, Alberto Soares; Cunha, Tatiana Oliveira Bernardo da

    2006-02-01

    Occupational exposure typical of an oil refinery may alter liver function among the workers. Thus, the objective of the study was to identify risk factors for liver enzyme abnormalities among oil refinery workers. The workers at an oil refinery in Northeastern Brazil underwent routine annual medical examination from 1982 to 1998. This case-control study investigated all the 150 cases of individuals with simultaneous gamma-glutamyltransferase and alanine aminotransferase abnormalities of at least 10% above reference levels. As controls, 150 workers without any liver enzyme or bilirubin abnormalities since starting to work there were selected. Odds ratios and the respective 95% confidence intervals were calculated from logistic regression models. In all the production sectors, the risk of liver enzyme abnormalities was significantly higher than in the administrative sector (OR=5.7; 95% CI: 1.7-18.4), even when the effects of alcohol, obesity and medical history of hepatitis were controlled for. During the period from 1992 to 1994, 88 out of the 89 cases occurred among workers from the various production sectors. Occupational exposure plays an important role in causing liver enzyme abnormalities among oil refinery workers. This is in addition to the specifically biological and/or behavioral risk factors such as obesity and alcohol consumption.

  8. High lifetime probability of screen-detected cervical abnormalities.

    PubMed

    Pankakoski, Maiju; Heinävaara, Sirpa; Sarkeala, Tytti; Anttila, Ahti

    2017-12-01

    Objective Regular screening and follow-up is an important key to cervical cancer prevention; however, screening inevitably detects mild or borderline abnormalities that would never progress to a more severe stage. We analysed the cumulative probability and recurrence of cervical abnormalities in the Finnish organized screening programme during a 22-year follow-up. Methods Screening histories were collected for 364,487 women born between 1950 and 1965. Data consisted of 1 207,017 routine screens and 88,143 follow-up screens between 1991 and 2012. Probabilities of cervical abnormalities by age were estimated using logistic regression and generalized estimating equations methodology. Results The probability of experiencing any abnormality at least once at ages 30-64 was 34.0% (95% confidence interval [CI]: 33.3-34.6%) . Probability was 5.4% (95% CI: 5.0-5.8%) for results warranting referral and 2.2% (95% CI: 2.0-2.4%) for results with histologically confirmed findings. Previous occurrences were associated with an increased risk of detecting new ones, specifically in older women. Conclusion A considerable proportion of women experience at least one abnormal screening result during their lifetime, and yet very few eventually develop an actual precancerous lesion. Re-evaluation of diagnostic criteria concerning mild abnormalities might improve the balance of harms and benefits of screening. Special monitoring of women with recurrent abnormalities especially at older ages may also be needed.

  9. Syncope cluster in a patient with vasovagal history.

    PubMed

    Zyśko, Dorota; Sokalski, Leszek; Gajek, Jacek; Loboz-Grudzień, Krystyna

    2010-10-01

    We report a case of a 55 year-old man with a history of vasovagal syncope who experienced six unexpected syncopal events over the course of two hours. Two of these occurred in the supine position during ECG monitoring, which showed a long-lasting sinus pause. Before the last syncopal episode, the ECG recording was started at the moment when the patient had the recurrence of presyncopal symptoms. Recordings showed sinus rhythm slowing for 12 s and then sinus arrest lasting for 29 s. A thorough clinical examination revealed no relevant abnormalities. The patient was treated with a permanent pacemaker implantation.

  10. Historical thinking in clinical medicine: lessons from R.G. Collingwood's philosophy of history.

    PubMed

    Chin-Yee, Benjamin H; Upshur, Ross E G

    2015-06-01

    The aim of this article is to create a space for historical thinking in medical practice. To this end, we draw on the ideas of R.G. Collingwood (1889-1943), the renowned British philosopher of history, and explore the implications of his philosophy for clinical medicine. We show how Collingwood's philosophy provides a compelling argument for the re-centring of medical practice around the patient history as a means of restoring to the clinical encounter the human meaning that is too often lost in modern medicine. Furthermore, we examine how Collingwood's historical thinking offers a patient-centred epistemology and a more pluralistic concept of evidence that includes the qualitative, narrative evidence necessary for human understanding. We suggest that clinical medicine can benefit from Collingwood's historical thinking, and, more generally, illustrates how a philosophy of medicine that draws on diverse sources from the humanities offers a richer, more empathetic clinical practice. © 2015 John Wiley & Sons, Ltd.

  11. A novel clinical decision support algorithm for constructing complete medication histories.

    PubMed

    Long, Ju; Yuan, Michael Juntao

    2017-07-01

    A patient's complete medication history is a crucial element for physicians to develop a full understanding of the patient's medical conditions and treatment options. However, due to the fragmented nature of medical data, this process can be very time-consuming and often impossible for physicians to construct a complete medication history for complex patients. In this paper, we describe an accurate, computationally efficient and scalable algorithm to construct a medication history timeline. The algorithm is developed and validated based on 1 million random prescription records from a large national prescription data aggregator. Our evaluation shows that the algorithm can be scaled horizontally on-demand, making it suitable for future delivery in a cloud-computing environment. We also propose that this cloud-based medication history computation algorithm could be integrated into Electronic Medical Records, enabling informed clinical decision-making at the point of care. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Aplasia of the mandibular condyle associated with some orthopaedic abnormalities

    PubMed Central

    Canger, E M; Çelenk, P

    2012-01-01

    A rare case of aplasia of mandibular condyle associated with some other orthopaedic problems is presented. A 5-year-old boy attended our clinic with a chief complaint of facial asymmetry and chewing difficulty. The mandible was deviated to the left. The occlusion also showed a deflection to the left of the mandibular midline. He also had walking difficulty owing to a hip abnormality. Panoramic radiographic examination of the patient revealed that the left mandibular condyl was totally absent. The right condyle was unremarkable. His history revealed neither trauma nor any significant disease. Aplasia is a rare anomaly and means the insufficient development of the mandibular condyle. True agnesis of the mandibular condyle is extremely rare. Association of the manifestations of the patient with some orthopaedic problems makes this case interesting. PMID:22116127

  13. The clinical implications of myocardial perfusion abnormalities in patients with esophageal or lung cancer after chemoradiation therapy.

    PubMed

    Gayed, Isis; Gohar, Salman; Liao, Zhongxing; McAleer, Mary; Bassett, Roland; Yusuf, Syed Wamique

    2009-06-01

    This study aims to identify the clinical implications of myocardial perfusion defects after chemoradiation therapy (CRT) in patients with esophageal and lung cancer. We retrospectively compared myocardial perfusion imaging (MPI) results before and after CRT in 16 patients with esophageal cancer and 24 patients with lung cancer. New MPI defects in the radiation therapy (RT) fields were considered related to RT. Follow-up to evaluate for cardiac complications and their relation with the results of MPI was performed. Statistical analysis identified predictors of cardiac morbidities. Eleven females and twenty nine males at a mean age of 66.7 years were included. Five patients (31%) with esophageal cancer and seven patients (29%) with lung cancer developed myocardial ischemia in the RT field at mean intervals of 7.0 and 8.4 months after RT. The patients were followed-up for mean intervals of 15 and 23 months in the esophageal and lung cancer groups, respectively. Seven patients in each of the esophageal (44%) and lung (29%) cancer patients (P = 0.5) developed cardiac complications of which one patient with esophageal cancer died of complete heart block. Six out of the fourteen patients (43%) with cardiac complication had new ischemia on MPI after CRT of which only one developed angina. The remaining eight patients with cardiac complications had normal MPI results. MPI result was not a statistically significant predictor of future cardiac complications after CRT. A history of congestive heart failure (CHF) (P = 0.003) or arrhythmia (P = 0.003) is a significant predictor of cardiac morbidity after CRT in univariate analysis but marginal predictors when multivariate analysis was performed (P = 0.06 and 0.06 for CHF and arrhythmia, respectively). Cardiac complications after CRT are more common in esophageal than lung cancer patients but the difference is not statistically significant. MPI abnormalities are frequently seen after CRT but are not predictive of future cardiac

  14. Craniofacial abnormalities among patients with Edwards Syndrome

    PubMed Central

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  15. Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study.

    PubMed

    Deal, Cheri; Hasselmann, Caroline; Pfäffle, Roland W; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Shavrikova, Elena P; Cutler, Gordon B; Blum, Werner F

    2013-01-01

    Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). This study examined relationships between MRI findings and clinical/hormonal phenotypes in children with GHD in the observational Genetics and Neuroendocrinology of Short Stature International Study, GeNeSIS. Clinical presentation, hormonal status and first-year GH response were compared between patients with pituitary imaging abnormalities (n = 1,071), patients with mutations in genes involved in pituitary development/GH secretion (n = 120) and patients with idiopathic GHD (n = 7,039). Patients with hypothalamic-pituitary abnormalities had more severe phenotypes than patients with idiopathic GHD. Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). Patients with the triad [ectopic posterior pituitary (EPP), pituitary aplasia/hypoplasia and stalk defects] had a more severe phenotype and better response to GH treatment than patients with isolated abnormalities. The sex ratio was approximately equal for patients with SOD, but there was a significantly higher proportion of males (approximately 70%) in the EPP, pituitary hypoplasia, stalk defects, and triad categories. This large, international database demonstrates the value of classification of GH-deficient patients by the presence and type of hypothalamic-pituitary imaging abnormalities. This information may assist family counseling and patient management. Copyright © 2013 S. Karger AG, Basel.

  16. Abnormal findings in peers during skills learning.

    PubMed

    Wearn, Andy; Nakatsuji, Miriam; Bhoopatkar, Harsh

    2017-02-01

    Peer physical examination (PPE), where students examine each other, is common in contemporary clinical skills learning. A range of benefits and risks have been explored in the literature. One persistent concern has been the identification and management of abnormal physical findings. Two previous studies have attempted to quantify the risk, one through the discussion of two exemplar cases and the other with a retrospective student survey. Here, we report the first prospective study of the number and type of abnormalities encountered as part of early clinical skills learning in a medical programme. We have a formal written consent process for PPE, which includes the management of abnormal findings through the completion of an event form. Our data come from cohorts undertaking years 2 and 3 of the programme between 2003 and 2014. One persistent concern (of PPE) has been the identification and management of abnormal physical findings RESULTS: Nineteen event forms were completed over this period. The incidence rates per year ranged from 0.23 to 1.05 per cent. Abnormal findings included raised blood pressure, heart murmur, abnormal bedside test values, and eye and skin conditions. The low event rate, along with a feasible process for dealing with this issue, goes some way to reassuring those with concerns. We acknowledge that some abnormalities may have been missed, and that some data may have been lost as a result of incorrect process; however, even the highest annual rate is low in absolute terms. We recommend a formal process for managing abnormalities. Ideally this would be part of an overall PPE written policy, communicated to students, enacted by tutors and approved by the local ethics committee. © 2016 John Wiley & Sons Ltd.

  17. [Research of gestrinone-related abnormal uterine bleeding and the intervention in the treatment: a multi-center, randomized, controlled clinical trial].

    PubMed

    Duan, H; Wang, S; Hao, M; Chen, L; Tang, J; Wang, X; Peng, Y Z; Zhang, S C; Cao, L R; Yu, J J

    2016-02-01

    To investigate the incidence, influencing factors and intervention of gestrinone-related abnormal uterine bleeding at different dosage of gestrinone in the clinical treatment. This was a multicenter, randomized, control study of 195 Chinese women with endometriosis or adenomyosis from June 2011 to November 2013. The subjects were randomized into three groups with oral administration of gestrinone, 2.5 mg dose at one time; twice a week group: 67 cases with oral administration twice a week last three months; double dose first month group: 67 cases with oral administration triple times a week at first month, then twice a week for two months; three times a week group: 61 cases with oral administration three times a week last three months. The improvement of the abnormal uterine bleeding, the changes in estrogen, liver function and blood coagulation were evaluated. At the same time, B-ultrasound examination evaluation were performed. (1) Three months later, the incidence of abnormal uterine bleeding in twice a week group was 30% (20/67), in double dose first month group and three times a week group were 7%(5/67) and 16% (10/61) respectively, there were significant difference between three groups (P<0.05). The incidence in double dose first month group was the most lower. (2) Univariate analysis showed that the dosage and ovarian size were the significant factors for abnormal uterine bleeding (OR=0.461,P= 0.003;OR=0.303,P=0.016); logistic regression analysis demonstrated that the risk of abnormal uterine bleeding in double dose first month group was the lowest when compared with twice a week group and three times a week group, the risk in twice a week group was 5-fold higher than that in double dose first month group (OR=0.211,P=0.011). The incidence of abnormal uterine bleeding in participants with abnormal ovarian volume results from ovarian cyst or ovarian surgery was significantly lower than those with normal ovarian volume (OR=0.304,P=0.018). (3) After the treatment

  18. The psychosocial impact of an abnormal cervical smear result.

    PubMed

    Drolet, Mélanie; Brisson, Marc; Maunsell, Elizabeth; Franco, Eduardo L; Coutlée, François; Ferenczy, Alex; Fisher, William; Mansi, James A

    2012-10-01

    Data on the impact of abnormal cervical smear results on health-related quality of life (HrQoL) are scarce. We aimed to (i) prospectively assess the HrQoL of women who were informed of an abnormal smear result; (ii) identify predictors of greater negative psychosocial impact of an abnormal result; and (iii) prospectively estimate the quality-adjusted life-years (QALYs) lost following an abnormal result. Between 08/2006 and 08/2008, 492 women with an abnormal result and 460 women with a normal result, frequency matched for age and clinic, were recruited across Canada. HrQoL was measured at recruitment and 4 and 12 weeks later with the EuroQol, Short Form-12, short Spielberg State-Trait Anxiety Inventory (STAI) and HPV Impact Profile. Three blocks of potential predictors of higher psychosocial impact were tested by hierarchical modeling: (i) socio-demographics; (ii) sexual activity; and (iii) smear result severity, communication, and understanding. Receiving an abnormal result significantly increased anxiety (STAI mean difference between both groups = 8.3). Initial anxiety decreased over time for the majority of women. However, 35% of women had clinically meaningful anxiety at 12 weeks (i.e. STAI scores ≥0.5 standard deviation of the controls). These women reported a lower socio-economic level, did not completely understand the information about their result and perceived themselves at higher risk of cancer. QALY lost following an abnormal result were between 0.007 and 0.009. Receiving an abnormal smear has a statistically significant and clinically meaningful negative impact on mental health. However, this negative impact subsides after 12 weeks for the majority of women. Copyright © 2011 John Wiley & Sons, Ltd.

  19. Lenticular abnormalities in children.

    PubMed

    Khokhar, Sudarshan; Agarwal, Tushar; Kumar, Gaurav; Kushmesh, Rakhi; Tejwani, Lalit Kumar

    2012-01-01

    To study the lenticular problems in children presenting at an apex institute. Retrospective analysis of records (< 14 years) of new lens clinic cases was done. Of 1,047 children, 687 were males. Mean age at presentation was 6.35 ± 4.13 years. Developmental cataract was seen in 45.6% and posttraumatic cataract in 29.7% of patients. Other abnormalities were cataract with retinal detachment, persistent hyperplastic primary vitreous, subluxated lens, micro/spherophakia, cataract secondary to uveitis, intraocular lens complications, cataract with choroidal coloboma, and visual axis opacification. Developmental and posttraumatic cataracts were the most common abnormalities. Delayed presentation is of concern. Copyright 2012, SLACK Incorporated.

  20. Proportionate Responses to Life Events Influence Clinicians' Judgments of Psychological Abnormality

    ERIC Educational Resources Information Center

    Kim, Nancy S.; Paulus, Daniel J.; Gonzalez, Jeffrey S.; Khalife, Danielle

    2012-01-01

    Psychological abnormality is a fundamental concept in the "Diagnostic and Statistical Manual of Mental Disorders" ("DSM-IV-TR"; American Psychiatric Association, 2000) and in all clinical evaluations. How do practicing clinical psychologists use the context of life events to judge the abnormality of a person's current behaviors? The appropriate…

  1. Hysteroscopic Findings in Patients with A History of Two Implantation Failures Following In Vitro Fertilization

    PubMed Central

    Moini, Ashraf; Kiani, Kiandokht; Ghaffari, Firouzeh; Hosseini, Fatemeh

    2012-01-01

    Background This study was designed to evaluate the incidence of uterine pathologies in infertile women with a history of two implantation failures after in vitro fertilization (IVF) and estimate the effect of hysteroscopic correction on achieving a pregnancy in these patients. Materials and Methods The retrospective study population included 238 infertile women attended the outpatient infertility clinic between November 2007 and December 2008. Patients with at least two previous IVF failures were eligible for this study. All patients had normal findings on hysterosalpingography performed prior their first attempt for IVF. Standard transvaginal ultrasonography and diagnostic hysteroscopy were performed in patients before the subsequent IVF attempt. Results Out of 238 patients with previous IVF failure who underwent hysteroscopic evaluation, 158 patients (66.4%) showed normal uterine cavity. Abnormal cavity was found in 80 patients (33.6%). We found polyp as the most common abnormality (19.7%) in the patients with previous history of IVF failure. The pregnancy rate was similar between IVF failure patients who treated by hysteroscopy for a detected uterine abnormality (24.6%) and similar patients with normal uterine cavity (21.2%) in hysteroscopic examinations. Conclusion The intrauterine lesions diagnosed by hysteroscopy in patients with previous IVF failure ranges from 0.8%-19.7%. Correction of abnormalities such as myoma and polyp showed good outcome, similar to that achieved in patients with a normal hysteroscopy. PMID:25505508

  2. Sex differences amongst dependent heroin users: histories, clinical characteristics and predictors of other substance dependence

    PubMed Central

    Shand, Fiona L; Degenhardt, Louisa; Slade, Tim; Nelson, Elliot C

    2010-01-01

    Introduction and aims To examine differences in the characteristics and histories of male and female dependent heroin users, and in the clinical characteristics associated with multiple substance dependence diagnoses. Design and methods 1513 heroin dependent participants underwent an interview covering substance use and dependence, psychiatric history, child maltreatment, family background, adult violence and criminal history. Family background, demographic and clinical characteristics were analysed by sex. Ordinal regression was used to test for a relationship between number of substance dependence diagnoses and other clinical variables. Results Women were more likely to experience most forms of child maltreatment, to first use heroin with a boyfriend or partner, to experience ongoing adult violence at the hands of a partner, and to have a poorer psychiatric history than men. Males had more prevalent lifetime substance dependence diagnoses and criminal histories and were more likely to meet criteria for ASPD. Predictors of multiple substance dependence diagnoses for both sexes were mental health variables, antisocial behaviour, childhood sexual abuse, victim of adult violence, younger age at first cannabis use and overdose. As the number of dependence diagnoses increased, clinical and behavioural problems increased. Childhood emotional neglect was related to increasing dependence diagnoses for females but not males, whereas PTSD was a significant predictor for males but not females. Discussion and conclusions Mental health problems, other substance dependence, childhood and adult trauma were common in this sample, with sex differences indicating different treatment needs and possible different pathways to heroin dependence for men and women. PMID:20833480

  3. Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI

    PubMed Central

    Sleeper, Meg M.; Kusiak, Catherine M.; Shofer, Frances S.; O’Donnell, Patricia; Bryan, Caroline; Ponder, Katherine P.; Haskins, Mark E.

    2009-01-01

    Summary Objective The purpose of this study was to define the cardiovascular abnormalities present in young and adult cats affected with the lysosomal storage diseases mucopolysaccharidosis (MPS) I and MPS VI. Method Eighteen cats affected with MPS I and fifteen cats affected with MPS VI were evaluated by physical examination, electrocardiography and echocardiography. Electrocardiograms were performed on all MPS I and all but 7 of the MPS VI cats. Ten unaffected cats underwent complete examinations for comparison purposes. Results No cardiovascular physical examination abnormalities were noted. ECG intervals were normal in affected cats; however, changes consistent with aberrant conduction were noted more frequently than in unaffected cats. Significant echocardiographic abnormalities included valve thickening and regurgitation (aortic and mitral) and aortic root dilation, particularly in the older cats. Conclusion As affected animals increased in age, more cardiac abnormalities were found with increasing severity. MPS I and MPS VI cats have similar cardiovascular findings to those seen in children and MPS VII dogs. PMID:18509743

  4. The value of HEAD-US system in detecting subclinical abnormalities in joints of patients with hemophilia.

    PubMed

    De la Corte-Rodriguez, Hortensia; Rodriguez-Merchan, E Carlos; Alvarez-Roman, M Teresa; Martin-Salces, Mónica; Martinoli, Carlo; Jimenez-Yuste, Víctor

    2018-03-01

    Prevention of hemarthrosis is the key factor in the adequate management of people with hemophilia (PWH). If hemarthrosis occurs, early diagnosis of joint damage is essential to make personalized treatments. This study is aimed at gaining an understanding of the ability of point-of-care ultrasound (US) using the `Hemophilia Early Arthropathy Detection with Ultrasound´ (HEAD-US) protocol to detect abnormalities in joints without history of hemarthrosis and clinically asymptomatic joints of PWH. The sample included 976 joints from 167 PWH (mean age 24.86 years). Data were collected from routine practice over a 3-year period and analyzed based on history of hemarthrosis and results of clinical (HJHS 2.1) and HEAD-US examinations. In our series, 14% of patients exhibited HEAD-US signs of incipient arthropathy in joints with no history of bleeding and with a HJHS 2.1 score of 0. The most severely involved joint was the right ankle. Synovitis, articular cartilage and subchondral bone damage scores in joints with subclinical findings were slower than in joints with previous hemarthroses or HJHS 2.1 > 1 Conclusions: Our study demonstrates that HEAD-US is better than hemarthrosis records and the HJHS 2.1 scale in detecting the early signs of joint damage in PWH.

  5. Clinically severe Epstein-Barr virus encephalitis with mild cerebrospinal fluid abnormalities in an immunocompetent adolescent: a case report.

    PubMed

    Engelmann, Ilka; Nasser, Hala; Belmiloudi, Soufien; Le Guern, Rémi; Dewilde, Anny; Vallée, Louis; Hober, Didier

    2013-06-01

    A 15-year-old boy developed Epstein-Barr virus (EBV) encephalitis, a rare complication of infectious mononucleosis. The severe clinical picture and the marked neuroimaging changes were in contrast with mild cerebrospinal fluid abnormalities: leukocyte count was normal and protein level was only slightly elevated. EBV DNA was detected in cerebrospinal fluid by polymerase chain reaction. Copyright © 2013 Elsevier Inc. All rights reserved.

  6. Family history in primary care: understanding GPs' resistance to clinical genetics--qualitative study.

    PubMed

    Mathers, Jonathan; Greenfield, Sheila; Metcalfe, Alison; Cole, Trevor; Flanagan, Sarah; Wilson, Sue

    2010-05-01

    National and local evaluations of clinical genetics service pilots have experienced difficulty in engaging with GPs. To understand GPs' reluctance to engage with clinical genetics service developments, via an examination of the role of family history in general practice. Qualitative study using semi-structured one-to-one interviews. The West Midlands, UK. Interviews with 21 GPs working in 15 practices, based on a stratified random sample from the Midlands Research Practices Consortium database. Thematic analysis proceeded alongside data generation. Framework grids were constructed for comparative analytical questioning. Interpretation was framed by two explanatory models: a knowledge deficit model, and practice and professional identity model. There is a clear distinction between the routine use and function of family history in GPs' clinical decision making, and contrasting conceptualisations of genetics and 'genetic conditions'. Although genetics is clearly a part of current GP practice, with acknowledgement of genetic components to multifactorial disease, this is distinguished from 'genetic conditions' which are seen as rare, complex single-gene disorders. Importantly, family history takes its place within a broader notion of the 'family doctor' that interviewees identified as a key aspect of their role. In contrast, clinical genetics was not identified as a core component of generalist practice. The likely effectiveness of educational policy interventions aimed at GPs that focus solely on knowledge deficit models, is questionable. There is a need to acknowledge how appropriate practice is constructed by GPs, within the context of accepted generalist roles and related identities.

  7. [Clinical efficacy and safety of uterine artery chemoembolization in abnormal placental implantation complicated with postpartum hemorrhage].

    PubMed

    Chen, Yao-ting; Xu, Lin-feng; Sun, Hong-liang; Li, Hui-qing; Hu, Ren-mei; Tan, Qi-yin

    2010-04-01

    To investigate the safety and clinical efficacy of uterime artery chemoembolization in postpartum hemorrhage (PPH) caused by abnormal placental implantation. Between December 2006 and September 2009, there were 23 cases of abnormal placental implantation with PPH in our hospital, among which 9 presented with continuous small amount of vaginal bleeding and 14 with acute excessive bleeding. The average bleeding time was (8+/-6) d and the mean blood loss was (980+/-660) ml. Abnormal placental implantation was confirmed by color Doppler ultrasound (CD-US) in all cases, the internal iliac artery angiography was performed to identify the uterine artery and bilateral uterine artery chemoembolization (UACE) with methotrexate (MTX) and gelfoam particles to the distal end of uterine artery was conducted after. CD-US rechecked all patients within 48 h after UACE and those patients with blurred margins between placenta and uterus and abnormal blood flow (>1 cmx1 cm) received ultrasonic-guided per vagina MTX multipoint injections. All cases were followed up for 3-26 months (average 12 months) to observe vaginal bleeding, placenta tissue discharge, serum human chorionic gonadotropin (hCG), uterine involution, menses, and side-effects or complications. (1) Curative effect: These 23 cases underwent 24 procedures of UACE successfully and vaginal bleeding ceased at an average of (3.5+/-1.3) min after UACE. Reduced blood flow in the placental implantation area was detected under CD-US after UACE. Among the 23 patients, wterine curettage was required in 16 cases due to retained placenta tissues with the mean blood loss of (40+/-28) ml during the operation, 2 underwent subtotal hysterectomy and confirmed to be placenta percreta by pathology examination, and placenta tissues were spontaneously discharged completely in 5 cases. Totally, 91% of the patients (21/23) reserved their uterus. (2) FOLLOW-UP: the serum hCG reduced to normal within 1-13 d after the placenta tissue were evacuated

  8. Abnormal maximal finger tapping in abstinent cannabis users.

    PubMed

    Flavel, Stanley C; White, Jason M; Todd, Gabrielle

    2013-11-01

    To investigate movement speed and rhythmicity in abstinent cannabis users, we hypothesized that abstinent cannabis users exhibit decreased maximal finger tapping frequency and increased variability of tapping compared with non-drug users. The study involved 10 healthy adult cannabis users and 10 age-matched and gender-matched controls with no history of illicit drug use. Subjects underwent a series of screening tests prior to participation. Subjects were then asked to tap a strain gauge as fast as possible with the index finger of their dominant hand (duration 5 s). The average intertap interval did not significantly differ between groups, but the coefficient of variation of the intertap interval was significantly greater in the cannabis group than in controls (p=0.011). The cannabis group also exhibited a slow tapping frequency at the beginning of the task. Rhythmicity of finger tapping is abnormal in individuals with a history of cannabis use. The abnormality appears to be long lasting and adds to the list of functional changes present in abstinent cannabis users. Copyright © 2013 John Wiley & Sons, Ltd.

  9. Grey matter volume and thickness abnormalities in young people with a history of childhood abuse.

    PubMed

    Lim, L; Hart, H; Mehta, M; Worker, A; Simmons, A; Mirza, K; Rubia, K

    2018-04-01

    Childhood abuse is associated with abnormalities in brain structure and function. Few studies have investigated abuse-related brain abnormalities in medication-naïve, drug-free youth that also controlled for psychiatric comorbidities by inclusion of a psychiatric control group, which is crucial to disentangle the effects of abuse from those associated with the psychiatric conditions. Cortical volume (CV), cortical thickness (CT) and surface area (SA) were measured in 22 age- and gender-matched medication-naïve youth (aged 13-20) exposed to childhood abuse, 19 psychiatric controls matched for psychiatric diagnoses and 27 healthy controls. Both region-of-interest (ROI) and whole-brain analyses were conducted. For the ROI analysis, the childhood abuse group compared with healthy controls only, had significantly reduced CV in bilateral cerebellum and reduced CT in left insula and right lateral orbitofrontal cortex (OFC). At the whole-brain level, relative to healthy controls, the childhood abuse group showed significantly reduced CV in left lingual, pericalcarine, precuneus and superior parietal gyri, and reduced CT in left pre-/postcentral and paracentral regions, which furthermore correlated with greater abuse severity. They also had increased CV in left inferior and middle temporal gyri relative to healthy controls. Abnormalities in the precuneus, temporal and precentral regions were abuse-specific relative to psychiatric controls, albeit at a more lenient level. Groups did not differ in SA. Childhood abuse is associated with widespread structural abnormalities in OFC-insular, cerebellar, occipital, parietal and temporal regions, which likely underlie the abnormal affective, motivational and cognitive functions typically observed in this population.

  10. Proportionate Responses to Life Events Influence Clinicians’ Judgments Of Psychological Abnormality

    PubMed Central

    Kim, Nancy S.; Paulus, Daniel J.; Gonzalez, Jeffrey S.; Khalife, Danielle

    2012-01-01

    Psychological abnormality is a fundamental concept in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR; APA, 2000) and in all clinical evaluations. How do practicing clinical psychologists use the context of life events to judge the abnormality of a person’s current behaviors? The appropriate role of life-event context in assessment has long been the subject of intense debate and scrutiny among clinical theorists, yet relatively little is known about clinicians’ own judgments in practice. We propose a proportionate-response hypothesis, such that judgments of abnormality are influenced by whether the behaviors are a disproportionate response to past events, rendering them difficult to understand or explain. We presented licensed, practicing clinical psychologists (N=77) with vignettes describing hypothetical people’s behaviors (disordered, mildly distressed, or unaffected) that had been preceded by either traumatic or mildly distressing events. Experts’ judgments of abnormality were strongly and systematically influenced by the degree of mismatch between the past event and current behaviors in strength and valence, such that the greater the mismatch, the more abnormal the person seemed. A separate, additional group of clinical psychologists (N=20) further confirmed that the greater the degree of mismatch, the greater the perceived difficulty in understanding the patient. These findings held true across clinicians of different theoretical orientations and in disorders for which these patterns of judgments ran contrary to formal recommendations in the DSM-IV-TR (APA, 2000). The rationality of these effects and implications for clinical decision science are discussed. PMID:22142425

  11. Patient Selection in Heart Failure With Preserved Ejection Fraction Clinical Trials

    PubMed Central

    Kelly, Jacob P.; Mentz, Robert J.; Mebazaa, Alexandre; Voors, Adriaan A.; Butler, Javed; Roessig, Lothar; Fiuzat, Mona; Zannad, Faiez; Pitt, Bertram; O’Connor, Christopher M.; Lam, Carolyn S.P.

    2015-01-01

    Recent clinical trials in patients with heart failure with preserved ejection fraction (HFpEF) have provided important insights into participant selection strategies. Historically, HFpEF trials have included patients with relatively preserved left ventricular ejection fraction ranging from 40% to 55% and a clinical history of heart failure. Contemporary HFpEF trials have also incorporated inclusion criteria such as hospitalization for HFpEF, altered functional capacity, cardiac structural and functional abnormalities, and abnormalities in neurohormonal status (e.g., elevated natriuretic peptide levels). Careful analyses of the impact of these patient selection criteria on outcomes in prior trials provide valuable lessons for future trial design. We review recent and ongoing HFpEF clinical trials from a patient selection perspective and appraise trial patient selection methodologies in relation to outcomes. This review reflects discussions between clinicians, scientists, trialists, regulators, and regulatory representatives at the 10th Global CardioVascular Clinical Trialists Forum in Paris, France on December 6, 2013. PMID:25908073

  12. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

    PubMed

    Lin, Angela E; Alexander, Mark E; Colan, Steven D; Kerr, Bronwyn; Rauen, Katherine A; Noonan, Jacqueline; Baffa, Jeanne; Hopkins, Elizabeth; Sol-Church, Katia; Limongelli, Giuseppe; Digilio, Maria Christina; Marino, Bruno; Innes, A Micheil; Aoki, Yoko; Silberbach, Michael; Delrue, Marie-Ange; White, Susan M; Hamilton, Robert M; O'Connor, William; Grossfeld, Paul D; Smoot, Leslie B; Padera, Robert F; Gripp, Karen W

    2011-03-01

    Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes ("RASopathies"). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation was p.G12S. A congenital heart defect (CHD) was present in 27 of 61 patients (44%), usually non-progressive valvar pulmonary stenosis. Hypertrophic cardiomyopathy (HCM), typically subaortic septal hypertrophy, was noted in 37 (61%), and 5 also had a CHD (14% of those with HCM). HCM was chronic or progressive in 14 (37%), stabilized in 10 (27%), and resolved in 5 (15%) patients with HCM; follow-up data was not available in 8 (22%). Atrial tachycardia occurred in 29 (48%). Valvar pulmonary stenosis rarely progressed and atrial septal defect was uncommon. Among those with HCM, the likelihood of progressing or remaining stable was similar (37%, 41% respectively). The observation of myocardial fiber disarray in 7 of 10 (70%) genotyped specimens with Costello syndrome is consistent with sarcomeric dysfunction. Multifocal atrial tachycardia may be distinctive for Costello syndrome. Potentially serious atrial tachycardia may present in the fetus, and may continue or worsen in about one-fourth of those with arrhythmia, but is generally self-limited in the remaining three-fourths of patients. Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated. Copyright © 2011 Wiley-Liss, Inc.

  13. Rate of abnormal osteoarticular radiographic findings in pediatric patients.

    PubMed

    Petit, P; Sapin, C; Henry, G; Dahan, M; Panuel, M; Bourlière-Najean, B; Chaumoitre, K; Devred, P

    2001-04-01

    The objective of our study was to assess the rate of abnormal radiographic findings in the most frequent osteoarticular locations of traumatic injury in a pediatric population. During two periods of 12 weeks each, all patients admitted to the pediatric emergency department for osteoarticular trauma who underwent radiography were prospectively included in this study. A connection was drawn between the rate of abnormal radiographic findings for the seven most frequently radiographed locations and the clinical findings. Of 3128 locations of trauma in 2470 children, only 22% of the radiographic examinations were considered to reveal abnormal findings. In decreasing order, the hand and fingers, the ankle, the wrist, the knee, the elbow, the foot and toes, and the forearm were the most frequently examined locations. The rate of abnormal findings was 25.7% for the hand and fingers, 9.0% for the ankle, 42.5% for the wrist, 9.5% for the knee, 33.3% for the elbow, 18.3% for the foot, and 43.2% for the forearm. When only the direct sign of fracture was taken into account, these rates decreased for the ankle and knee to 2.6% and 1.9%, respectively. There was always a significant link between the degree of clinical suspicion and the rate of abnormal radiographic findings. However, fewer than 50% of the cases with high clinical suspicion of fracture were radiographically confirmed. It appears necessary, especially in cases of lower limb trauma, to evaluate clinical tests, including the implementation of the Ottawa ankle rules, to reduce the number of unnecessary radiographic examinations. This reduction will improve some parameters of children's quality of life and will significantly decrease the cost of emergency care.

  14. Is cancer history really an exclusion criterion for clinical trial of lung cancer? Influence of gastrointestinal tract cancer history on the outcomes of lung cancer surgery.

    PubMed

    Aokage, Keiju; Okada, Morihito; Suzuki, Kenji; Nomura, Shogo; Suzuki, Shigeki; Tsubokawa, Norifumi; Mimae, Takahiro; Hattori, Aritoshi; Hishida, Tomoyuki; Yoshida, Junji; Tsuboi, Masahiro

    2017-02-15

    Exclusion of patients with a history of other cancer treatment except in situ situation has been considered to be inevitable for clinical trials investigating survival outcome. However, there have been few reports confirming these influences on surgical outcome of lung cancer patients ever. Multi-institutional, individual data from patients with non–small cell lung cancer resected between 2000 and 2013 were collected. The patients were divided into two groups: those with a history of gastrointestinal tract cancer (GI group) and those without any history (non-GI group). We compared the outcomes with well-matched groups using propensity scoring to minimize bias related to the nonrandomness. The influence of gastrointestinal tract cancer stage, disease-free interval, and treatment method for gastrointestinal tract cancer on the surgical outcome of non–small cell lung cancer was examined. We analyzed 196 patients in the GI group and 3732 in the non-GI group. In unmatched cohort, multivariate analyses showed that a history of gastrointestinal tract cancer did not affect overall survival or recurrence-free survival. Independent predictors of poor prognosis included older age, male sex, high carcinoembryonic antigen levels and advanced clinical stage of non–small cell lung cancer. The two groups in the matched cohort demonstrated equivalent overall survival and recurrence-free survival, even in patients with clinical stage I. Gastrointestinal tract cancer stage, disease-free interval and treatment method for gastrointestinal tract cancer were not associated with outcomes. History of early gastrointestinal tract cancer completely resected is not always necessary for exclusion criteria in clinical trial of lung cancer.

  15. Automated ancillary cancer history classification for mesothelioma patients from free-text clinical reports

    PubMed Central

    Wilson, Richard A.; Chapman, Wendy W.; DeFries, Shawn J.; Becich, Michael J.; Chapman, Brian E.

    2010-01-01

    Background: Clinical records are often unstructured, free-text documents that create information extraction challenges and costs. Healthcare delivery and research organizations, such as the National Mesothelioma Virtual Bank, require the aggregation of both structured and unstructured data types. Natural language processing offers techniques for automatically extracting information from unstructured, free-text documents. Methods: Five hundred and eight history and physical reports from mesothelioma patients were split into development (208) and test sets (300). A reference standard was developed and each report was annotated by experts with regard to the patient’s personal history of ancillary cancer and family history of any cancer. The Hx application was developed to process reports, extract relevant features, perform reference resolution and classify them with regard to cancer history. Two methods, Dynamic-Window and ConText, for extracting information were evaluated. Hx’s classification responses using each of the two methods were measured against the reference standard. The average Cohen’s weighted kappa served as the human benchmark in evaluating the system. Results: Hx had a high overall accuracy, with each method, scoring 96.2%. F-measures using the Dynamic-Window and ConText methods were 91.8% and 91.6%, which were comparable to the human benchmark of 92.8%. For the personal history classification, Dynamic-Window scored highest with 89.2% and for the family history classification, ConText scored highest with 97.6%, in which both methods were comparable to the human benchmark of 88.3% and 97.2%, respectively. Conclusion: We evaluated an automated application’s performance in classifying a mesothelioma patient’s personal and family history of cancer from clinical reports. To do so, the Hx application must process reports, identify cancer concepts, distinguish the known mesothelioma from ancillary cancers, recognize negation, perform reference

  16. Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI.

    PubMed

    Sleeper, M M; Kusiak, C M; Shofer, F S; O'Donnell, P; Bryan, C; Ponder, K P; Haskins, M E

    2008-06-01

    The purpose of this study was to define the cardiovascular abnormalities present in young and adult cats affected with the lysosomal storage diseases mucopolysaccharidosis (MPS) I and MPS VI. Eighteen cats affected with MPS I and 10 cats affected with MPS VI were evaluated by physical examination, electrocardiography and echocardiography. Electrocardiography (ECG) was performed on all MPS I and 9 of the MPS VI cats. Twelve unaffected cats underwent complete examinations for comparison purposes. No cardiovascular abnormalities were noted on physical examination. Measured ECG intervals were normal in affected cats; however, sinus arrhythmia was noted more frequently than in the unaffected cats. Significant echocardiographic abnormalities included aortic valve thickening, regurgitation and aortic root dilation. Significant mitral valve thickening was also noted. The severity of changes increased in older affected cats. As affected animals increased in age, more cardiac abnormalities were found with increasing severity. Significant lesions included the mitral and aortic valves and ascending aorta, but myocardial changes were not recognized. MPS I and MPS VI cats have similar cardiovascular findings to those seen in children and constitute important models for testing new MPS therapies.

  17. Global abnormalities in lymphatic function following systemic therapy in patients with breast cancer.

    PubMed

    Bains, S K; Peters, A M; Zammit, C; Ryan, N; Ballinger, J; Glass, D M; Allen, S; Stanton, A W B; Mortimer, P S; Purushotham, A D

    2015-04-01

    Breast cancer-related lymphoedema (BCRL) is a result of interaction between several pathophysiological processes, and is not simply a 'stopcock' effect resulting from removal of axillary lymph nodes. The aim of this study was to test the hypothesis that there is a constitutional 'global' lymphatic dysfunction in patients who develop BCRL. Lower-limb lymphoscintigraphy was performed in 30 women who had undergone axillary lymph node dissection at least 3 years previously, of whom 15 had BCRL and 15 did not. No patient had any clinical abnormality of the lower limb. The control group comprised 24 women with no history of cancer or lower-limb lymphoedema. (99m) Tc-Nanocoll was injected subcutaneously into the first webspace of each foot, followed by whole-body imaging. Scans were reported as abnormal if there was delay in lymph transport or rerouting through skin or deep system. Quantification was expressed as the percentage injected activity accumulating in ilioinguinal nodes. Mean(s.d.) ilioinguinal nodal accumulation at 150 min was significantly lower in women with BCRL than in those without (2·7(2·5) versus 5·9(4·8) per cent respectively; P = 0·006). Abnormal findings on lower-limb lymphoscintigraphy were observed in 17 of the 30 patients: ten of the 15 women who had BCRL and seven of the 15 who did not. None of the 24 control subjects had abnormal scan findings. Women with BCRL had reduced lower-limb lymph drainage, supporting the hypothesis of a predisposition to BCRL. A surprisingly high proportion of patients with breast cancer also demonstrated lymphatic dysfunction, despite clinically normal lower limbs. Possible explanations could be a systemic effect of breast cancer or its treatment, or an unidentified association between breast cancer and lymphatic dysfunction. ISRCTN84866416 ( http://www.isrctn.com). © 2015 BJS Society Ltd Published by John Wiley & Sons Ltd.

  18. Dietary exposure to brominated flame retardants and abnormal Pap test results.

    PubMed

    Jamieson, Denise J; Terrell, Metrecia L; Aguocha, Nnenna N; Small, Chanley M; Cameron, Lorraine L; Marcus, Michele

    2011-09-01

    This study examined a possible association of dietary exposure to polybrominated biphenyls (PBBs), a brominated flame retardant, and self-reported abnormal Pap test results and cervical dysplasia as a precursor to cervical cancer. Women in Michigan who ingested contaminated poultry, beef, and dairy products in the early 1970s were enrolled in a population-based cohort study in Michigan. Serum PBB and serum polychlorinated biphenyl (PCB) concentrations were measured. Reproductive history and health information, including Pap test results, were self-reported by participants. Of the women, 23% (223 of 956) reported an abnormal Pap test. In unadjusted analyses, self-reporting an abnormal Pap test was associated with younger age, current smoking (hazard ratio [HR] 1.61, 95% confidence interval [CI] 1.19-2.17), and longer duration of lifetime use of oral contraceptives (≥10 years; HR 1.92, 95% CI 1.21-3.06). When adjusting for PCB exposure, age at the interview, and smoking history, there was a slightly elevated risk of self-reporting an abnormal Pap test among the highly exposed women compared to women with nondetectable PBB concentrations (PBB≥13 μg/L, HR 1.23, 95% CI 0.74-2.06); however, the CI was imprecise. When breastfeeding duration after the initial PBB measurement was taken into account, there was a reduced risk of self-reporting an abnormal Pap test among the highly exposed women who breastfed for ≥12 months (HR 0.41, 95% CI 0.06-3.03; referent group: women with nondetectable PBB concentrations who did not breastfeed). It remains important to evaluate the potential reproductive health consequences of this class of chemicals as well as other potential predictors of abnormal Pap tests.

  19. Dietary Exposure to Brominated Flame Retardants and Abnormal Pap Test Results

    PubMed Central

    Jamieson, Denise J.; Terrell, Metrecia L.; Aguocha, Nnenna N.; Small, Chanley M.; Cameron, Lorraine L.

    2011-01-01

    Abstract Objective This study examined a possible association of dietary exposure to polybrominated biphenyls (PBBs), a brominated flame retardant, and self-reported abnormal Pap test results and cervical dysplasia as a precursor to cervical cancer. Methods Women in Michigan who ingested contaminated poultry, beef, and dairy products in the early 1970s were enrolled in a population-based cohort study in Michigan. Serum PBB and serum polychlorinated biphenyl (PCB) concentrations were measured. Reproductive history and health information, including Pap test results, were self-reported by participants. Results Of the women, 23% (223 of 956) reported an abnormal Pap test. In unadjusted analyses, self-reporting an abnormal Pap test was associated with younger age, current smoking (hazard ratio [HR] 1.61, 95% confidence interval [CI] 1.19-2.17), and longer duration of lifetime use of oral contraceptives (≥10 years; HR 1.92, 95% CI 1.21-3.06). When adjusting for PCB exposure, age at the interview, and smoking history, there was a slightly elevated risk of self-reporting an abnormal Pap test among the highly exposed women compared to women with nondetectable PBB concentrations (PBB≥13 μg/L, HR 1.23, 95% CI 0.74-2.06); however, the CI was imprecise. When breastfeeding duration after the initial PBB measurement was taken into account, there was a reduced risk of self-reporting an abnormal Pap test among the highly exposed women who breastfed for ≥12 months (HR 0.41, 95% CI 0.06-3.03; referent group: women with nondetectable PBB concentrations who did not breastfeed). Conclusions It remains important to evaluate the potential reproductive health consequences of this class of chemicals as well as other potential predictors of abnormal Pap tests. PMID:21797757

  20. Clinical relevance of apolipoprotein E genotyping based on a family history of Alzheimer's disease.

    PubMed

    Luckhoff, Hilmar K; Brand, Theresa; van Velden, Dawid P; Kidd, Martin; Fisher, Leslie R; van Rensburg, Susan J; Kotze, Maritha J

    2015-01-01

    Having a family history of Alzheimer' s disease (AD) may potentiate cumulative risk associated with phenotypic expression of the ε-4 allele of the apolipoprotein E (APOE) gene. In this study, we compared the genotype distribution and allele frequencies of APOE ε-2 (rs7412) and ε -4 (rs429358) in 537 South African individuals participating in a chronic disease screening program, in order to establish whether AD family history modulates the expression of their dyslipidemic effects. Significant differences in the genotype distribution for APOE ε-2 (p=0.034) as well as APOE ε-4 (p=0.038) were found between study participants with (n=67) and without (n=470) a family history of AD. LDL cholesterol levels were inversely associated with physical activity in the study group with a positive family history of AD (p<0.001) but not in those with a negative family history of AD (p=0.257). Similar to its existing use in the diagnosis of monogenic dyslipidemias such as familial hypercholesterolemia, clinical inquiry regarding family history was identified as an important determinant of eligibility for APOE genotyping performed in the context of chronic disease risk management. To our knowledge, this is the first study to demonstrate the modulating influence of AD family history on expression of a dyslipidemic phenotype associated with the APOE ε-4 allele. Our findings provide the scientific rationale supporting a novel clinical application for APOE genotyping as a means of identifying a genetic subgroup of dyslipidemic patients set to derive the greatest benefit from early lifestyle-based interventions aimed at decreasing cumulative risk for cardiovascular disease and prevention of AD later in life.

  1. [Clinical characteristics of benign paroxysmal vertigo of childhood (BPVC)].

    PubMed

    Goto, Fumiyuki; Morimoto, Noriko; Ohara, Takuya; Honmura, Tomoko; Taiji, Hidenobu

    2011-06-01

    Pediatric subjects with vertigo or dizziness are rare in Japan, although considerable statistical data accumulated, mostly indicating that orthostatic hypotension is the most frequent clinical symptoms in Japan, as opposed to Benign paroxysmal vertigo of childhood (BPVC), reported to be most frequent abroad. We studied BPVC incidence and clinical features. Subjects were 5 boys and 7 girls aged 4 to 15 years old (average +/- sd 9.5 +/- 3.1 years). The predominant diagnosis was BPVC in 8, orthostatic hypotension in 6, labyrinthitis in 2, and delayed endolymphatic hydrops, and conversion disorder in 1 case each. BPVC was most common. All subjects with BPVC had a history or a family history of migraine. Based on BPVC diagnostic criteria, subjects had neither organic nor functional abnormalities. Information is thus required on attack, injury, and personal or family migraine history to determine a final diagnosis. Note that subjects with BPVC have high orthostatic hypotension. These statistics indicate the importance of diagnostic BPVC criteria in pediatric subjects with dizziness or vertigo.

  2. Eye movement abnormalities in essential tremor

    PubMed Central

    Plinta, Klaudia; Krzak-Kubica, Agnieszka; Zajdel, Katarzyna; Falkiewicz, Marcel; Dylak, Jacek; Ober, Jan; Szczudlik, Andrzej; Rudzińska, Monika

    2016-01-01

    Abstract Essential tremor (ET) is the most prevalent movement disorder, characterized mainly by an action tremor of the arms. Only a few studies published as yet have assessed oculomotor abnormalities in ET and their results are unequivocal. The aim of this study was to assess the oculomotor abnormalities in ET patients compared with the control group and to find the relationship between oculomotor abnormalities and clinical features of ET patients. We studied 50 ET patients and 42 matched by age and gender healthy controls. Saccadometer Advanced (Ober Consulting, Poland) was used to investigate reflexive, pace-induced and cued saccades and conventional electrooculography for evaluation of smooth pursuit and fixation. The severity of the tremor was assessed by the Clinical Rating Scale for Tremor. Significant differences between ET patients and controls were found for the incidence of reflexive saccades dysmetria and deficit of smooth pursuit. Reflexive saccades dysmetria was more frequent in patients in the second and third phase of ET compared to the first phase. The reflexive saccades latency increase was correlated with severity of the tremor. In conclusion, oculomotor abnormalities were significantly more common in ET patients than in healthy subjects. The most common oculomotor disturbances in ET were reflexive saccades dysmetria and slowing of smooth pursuit. The frequency of reflexive saccades dysmetria increased with progression of ET. The reflexive saccades latency increase was related to the severity of tremor. PMID:28149393

  3. Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

    PubMed

    Sethi, M; Lehmann, A R; Fawcett, H; Stefanini, M; Jaspers, N; Mullard, K; Turner, S; Robson, A; McGibbon, D; Sarkany, R; Fassihi, H

    2013-12-01

    Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn. © 2013 British Association of

  4. Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake's pouch cyst in the fetus.

    PubMed

    Paladini, D; Quarantelli, M; Pastore, G; Sorrentino, M; Sglavo, G; Nappi, C

    2012-03-01

    To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC) in the fetus and to review the ultrasound features, associations and outcome of 19 cases of BPC seen at our center over the last 5 years. We conducted a MEDLINE search using the terms 'Blake's pouch', with or without 'fourth ventricle' or '4(th) ventricle', with or without 'roof' and identified articles describing normal and/or abnormal development of the PMA, whether or not they were cited in the limited clinical literature on BPC. A description of the normal and abnormal development of BPC was derived by collating these articles. The clinical retrospective study included 19 cases of posterior fossa anomalies with a final diagnosis of BPC seen at our institution. The following variables were assessed: referral indication, gestational age at diagnosis, ultrasound and magnetic resonance imaging (MRI) findings, associated anomalies, natural history and pregnancy and neonatal outcome. A transvaginal three-dimensional (3D) ultrasound examination was performed in all cases and 15 cases underwent MRI. To confirm the diagnosis, postnatal MRI, transfontanellar ultrasound or autopsy were available in all cases. Among the 19 cases reviewed, referral indications were: suspicion of vermian abnormality in 11 (58%) cases and other non-central nervous system anomaly in eight (42%) cases. Sonographically, all cases showed the following three signs: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. On 3D ultrasound, the upper wall of the cyst was clearly visible in 11/19 cases, with choroid plexuses on the superolateral margin of the cyst roof. On follow-up, the BPC had disappeared by 24-26 gestational weeks in six of the 11 cases which did not undergo termination of pregnancy (TOP), and remained unaltered

  5. The Impact of Family History on the Clinical Features of Huntington's Disease.

    PubMed

    Kringlen, Gabe; Kinsley, Lisa; Aufox, Sharon; Rouleau, Gerald; Bega, Danny

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. In most cases the disease is inherited from a parent, although a considerable number of affected persons have no reported family history of the disease. While CAG repeat length is negatively correlated with age of symptom onset, variability exists suggesting that other variables may influence symptom onset. The objective of this study is to determine whether awareness of a family history of HD has an impact on symptom onset and disease manifestations. Data were obtained from Enroll-HD to compare subjects with a family history of HD to subjects without on various key clinical outcomes. In addition, multiple regressions were performed to investigate the impact of family history on the age at onset of depression and motor symptoms. 4,285 mutation positive subjects were included in the analysis, of which 4.81% had a negative family history. Controlling for CAG repeat length, a positive family history predicted an onset of depression 11.438 years earlier and an onset of motor symptoms 6.681 years earlier when compared to having a negative family history. Subjects with a positive family history were more likely to report behavioral manifestations as the initial major symptom of HD (38.6% vs. 29.6%, p = 0.023), and were more likely to report previous suicidal ideation/attempts (26.2% vs. 20.3%, p = 0.046). A positive family history of HD appears to be associated with an earlier onset of depression and overall disease manifestations. Implications regarding the role of genetic versus environmental contributions to symptom onset in HD are discussed.

  6. Diffusion abnormalities in adolescents and young adults with a history of heavy cannabis use.

    PubMed

    Ashtari, Manzar; Cervellione, Kelly; Cottone, John; Ardekani, Babak A; Sevy, Serge; Kumra, Sanjiv

    2009-01-01

    There is growing evidence that adolescence is a key period for neuronal maturation. Despite the high prevalence of marijuana use among adolescents and young adults in the United States and internationally, very little is known about its impact on the developing brain. Based on neuroimaging literature on normal brain developmental during adolescence, we hypothesized that individuals with heavy cannabis use (HCU) would have brain structure abnormalities in similar brain regions that undergo development during late adolescence, particularly the fronto-temporal connection. Fourteen young adult males in residential treatment for cannabis dependence and 14 age-matched healthy male control subjects were recruited. Patients had a history of HCU throughout adolescence; 5 had concurrent alcohol abuse. Subjects underwent structural and diffusion tensor magnetic resonance imaging. White matter integrity was compared between subject groups using voxelwise and fiber tractography analysis. Voxelwise and tractography analyses revealed that adolescents with HCU had reduced fractional anisotropy, increased radial diffusivity, and increased trace in the homologous areas known to be involved in ongoing development during late adolescence, particularly in the fronto-temporal connection via arcuate fasciculus. Our results support the hypothesis that heavy cannabis use during adolescence may affect the trajectory of normal brain maturation. Due to concurrent alcohol consumption in five HCU subjects, conclusions from this study should be considered preliminary, as the DTI findings reported here may be reflective of the combination of alcohol and marijuana use. Further research in larger samples, longitudinal in nature, and controlling for alcohol consumption is needed to better understand the pathophysiology of the effect of cannabis on the developing brain.

  7. Clinical application of three-dimensional printing to the management of complex univentricular hearts with abnormal systemic or pulmonary venous drainage.

    PubMed

    McGovern, Eimear; Kelleher, Eoin; Snow, Aisling; Walsh, Kevin; Gadallah, Bassem; Kutty, Shelby; Redmond, John M; McMahon, Colin J

    2017-09-01

    In recent years, three-dimensional printing has demonstrated reliable reproducibility of several organs including hearts with complex congenital cardiac anomalies. This represents the next step in advanced image processing and can be used to plan surgical repair. In this study, we describe three children with complex univentricular hearts and abnormal systemic or pulmonary venous drainage, in whom three-dimensional printed models based on CT data assisted with preoperative planning. For two children, after group discussion and examination of the models, a decision was made not to proceed with surgery. We extend the current clinical experience with three-dimensional printed modelling and discuss the benefits of such models in the setting of managing complex surgical problems in children with univentricular circulation and abnormal systemic or pulmonary venous drainage.

  8. Diverticular Disease of the Colon: Neuromuscular Function Abnormalities.

    PubMed

    Bassotti, Gabrio; Villanacci, Vincenzo; Bernardini, Nunzia; Dore, Maria P

    2016-10-01

    Colonic diverticular disease is a frequent finding in daily clinical practice. However, its pathophysiological mechanisms are largely unknown. This condition is likely the result of several concomitant factors occurring together to cause anatomic and functional abnormalities, leading as a result to the outpouching of the colonic mucosa. A pivotal role seems to be played by an abnormal colonic neuromuscular function, as shown repeatedly in these patients, and by an altered visceral perception. There is recent evidence that these abnormalities might be related to the derangement of the enteric innervation, to an abnormal distribution of mucosal neuropeptides, and to low-grade mucosal inflammation. The latter might be responsible for the development of visceral hypersensitivity, often causing abdominal pain in a subset of these patients.

  9. Clinical, laboratory, and hemostatic findings in cats with naturally occurring sepsis.

    PubMed

    Klainbart, Sigal; Agi, Limor; Bdolah-Abram, Tali; Kelmer, Efrat; Aroch, Itamar

    2017-11-01

    OBJECTIVE To characterize clinical and laboratory findings in cats with naturally occurring sepsis, emphasizing hemostasis-related findings, and evaluate these variables for associations with patient outcomes. DESIGN Prospective, observational, clinical study. ANIMALS 31 cats with sepsis and 33 healthy control cats. PROCEDURES Data collected included history; clinical signs; results of hematologic, serum biochemical, and hemostatic tests; diagnosis; and outcome (survival vs death during hospitalization or ≤ 30 days after hospital discharge). Differences between cats with and without sepsis and associations between variables of interest and death were analyzed statistically. RESULTS The sepsis group included cats with pyothorax (n = 10), septic peritonitis (7), panleukopenia virus infection (5), bite wounds (5), abscesses and diffuse cellulitis (3), and pyometra (1). Common clinical abnormalities included dehydration (21 cats), lethargy (21), anorexia (18), pale mucous membranes (15), and dullness (15). Numerous clinicopathologic abnormalities were identified in cats with sepsis; novel findings included metarubricytosis, hypertriglyceridemia, and high circulating muscle enzyme activities. Median activated partial thromboplastin time and plasma D-dimer concentrations were significantly higher, and total protein C and antithrombin activities were significantly lower, in the sepsis group than in healthy control cats. Disseminated intravascular coagulopathy was uncommon (4/22 [18%] cats with sepsis). None of the clinicopathologic abnormalities were significantly associated with death on multivariate analysis. CONCLUSIONS AND CLINICAL RELEVANCE Cats with sepsis had multiple hematologic, biochemical, and hemostatic abnormalities on hospital admission, including several findings suggestive of hemostatic derangement. Additional research including larger numbers of cats is needed to further investigate these findings and explore associations with outcome.

  10. Occipitoparietal epilepsy, hippocampal atrophy, and congenital developmental abnormalities.

    PubMed

    Lawn, N; Londono, A; Sawrie, S; Morawetz, R; Martin, R; Gilliam, F; Faught, E; Kuzniecky, R

    2000-12-01

    Diagnostic uncertainty may arise in patients with occipitoparietal epilepsy when there is neuroimaging evidence of a posterior quadrant lesion and coexistent hippocampal abnormalities ("dual pathology"). It is not known whether hippocampal atrophy (HA) in these patients results from seizure propagation to temporolimbic structures or whether it is part of the pathological process underlying the occipitoparietal epilepsy. Clarification of this issue may have a significant bearing on the management of these patients. We studied 20 patients with occipitoparietal epilepsy and neuroimaging or pathologic evidence of a congenital developmental abnormality. Normalized hippocampal volumes were obtained in all patients. The medical records and video-EEG recordings were analyzed to correlate the MRI findings with clinical data, seizure semiology, and EEG findings. HA was found in seven patients (35%). Neuroimaging abnormalities concordant with the side of HA were seen in all cases. There was clinical or EEG evidence of temporal spread in 12 patients. There was no correlation between the presence of HA and temporal lobe spread. The only clinical factor associated with HA in this series was a younger age of seizure onset. HA in patients with occipitoparietal epilepsy due to congenital developmental abnormalities is most likely to be a marker of a more widespread process related to a common pathogenesis during prenatal or perinatal development. HA in these patients is unlikely to be the result of secondary spread from an extrahippocampal focus. Surgical treatment should be tailored toward the primary epileptogenic zone rather the site of seizure spread.

  11. Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer.

    PubMed

    Xia, Shu; Kohli, Manish; Du, Meijun; Dittmar, Rachel L; Lee, Adam; Nandy, Debashis; Yuan, Tiezheng; Guo, Yongchen; Wang, Yuan; Tschannen, Michael R; Worthey, Elizabeth; Jacob, Howard; See, William; Kilari, Deepak; Wang, Xuexia; Hovey, Raymond L; Huang, Chiang-Ching; Wang, Liang

    2015-06-30

    Liquid biopsies, examinations of tumor components in body fluids, have shown promise for predicting clinical outcomes. To evaluate tumor-associated genomic and genetic variations in plasma cell-free DNA (cfDNA) and their associations with treatment response and overall survival, we applied whole genome and targeted sequencing to examine the plasma cfDNAs derived from 20 patients with advanced prostate cancer. Sequencing-based genomic abnormality analysis revealed locus-specific gains or losses that were common in prostate cancer, such as 8q gains, AR amplifications, PTEN losses and TMPRSS2-ERG fusions. To estimate tumor burden in cfDNA, we developed a Plasma Genomic Abnormality (PGA) score by summing the most significant copy number variations. Cox regression analysis showed that PGA scores were significantly associated with overall survival (p < 0.04). After androgen deprivation therapy or chemotherapy, targeted sequencing showed significant mutational profile changes in genes involved in androgen biosynthesis, AR activation, DNA repair, and chemotherapy resistance. These changes may reflect the dynamic evolution of heterozygous tumor populations in response to these treatments. These results strongly support the feasibility of using non-invasive liquid biopsies as potential tools to study biological mechanisms underlying therapy-specific resistance and to predict disease progression in advanced prostate cancer.

  12. Alfalfa dodder (Cuscuta campestris) toxicity in horses: clinical, haematological and serum biochemical findings.

    PubMed

    Abutarbush, S M

    2013-07-27

    The objective of this observational study is to describe clinical, haematological and serum biochemical findings of horses affected with alfalfa dodder (Cuscuta campestris) toxicity. Twenty horses naturally exposed to alfalfa dodder toxicity were examined and information was collected on history and clinical signs. Physical examination was done on horses in the premises (n=20), and venous blood samples of 12 horses were submitted for haematology and serum biochemical examination for each horse. Abnormal clinical signs started around 36 hours after horses were fed the contaminated alfalfa. Abnormal signs were seen in 11 horses and those included diarrhoea (n=8), decreased appetite (n=7), neurological signs (n=4) and abdominal pain (n=1). Some horses had multiple clinical signs of the above. The results of complete blood cell count revealed leukocytopenia, neutropenia and thrombocytopenia. Serum biochemical analysis revealed decreased ALP, AST and CPK levels and increased direct bilirubin level. The used alfalfa was stopped immediately and a different alfalfa from a new container that did not contain any weeds was fed. Horses on the premises were observed closely, and the abnormal clinical signs resolved within three days. No treatment was implemented. Knowledge about toxicity of horses by Cuscuta species is scarce in the English veterinary literature and very limited.

  13. Guidelines on the management of abnormal liver blood tests

    PubMed Central

    Cramb, Rob; Davison, Suzanne M; Dillon, John F; Foulerton, Mark; Godfrey, Edmund M; Hall, Richard; Harrower, Ulrike; Hudson, Mark; Langford, Andrew; Mackie, Anne; Mitchell-Thain, Robert; Sennett, Karen; Sheron, Nicholas C; Verne, Julia; Walmsley, Martine; Yeoman, Andrew

    2018-01-01

    These updated guidelines on the management of abnormal liver blood tests have been commissioned by the Clinical Services and Standards Committee (CSSC) of the British Society of Gastroenterology (BSG) under the auspices of the liver section of the BSG. The original guidelines, which this document supersedes, were written in 2000 and have undergone extensive revision by members of the Guidelines Development Group (GDG). The GDG comprises representatives from patient/carer groups (British Liver Trust, Liver4life, PBC Foundation and PSC Support), elected members of the BSG liver section (including representatives from Scotland and Wales), British Association for the Study of the Liver (BASL), Specialist Advisory Committee in Clinical Biochemistry/Royal College of Pathology and Association for Clinical Biochemistry, British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN), Public Health England (implementation and screening), Royal College of General Practice, British Society of Gastrointestinal and Abdominal Radiologists (BSGAR) and Society of Acute Medicine. The quality of evidence and grading of recommendations was appraised using the AGREE II tool. These guidelines deal specifically with the management of abnormal liver blood tests in children and adults in both primary and secondary care under the following subheadings: (1) What constitutes an abnormal liver blood test? (2) What constitutes a standard liver blood test panel? (3) When should liver blood tests be checked? (4) Does the extent and duration of abnormal liver blood tests determine subsequent investigation? (5) Response to abnormal liver blood tests. They are not designed to deal with the management of the underlying liver disease. PMID:29122851

  14. Risk factors for abnormal liver function tests in patients with ileal pouch-anal anastomosis for underlying inflammatory bowel disease.

    PubMed

    Navaneethan, Udayakumar; Remzi, Feza H; Nutter, Benjamin; Fazio, Victor W; Shen, Bo

    2009-10-01

    Liver involvement is common in patients with inflammatory bowel disease (IBD). However, the frequency and the significance of liver function test (LFT) abnormalities in patients with ileal pouch-anal anastomosis (IPAA) for underlying IBD have not been studied. The aim of this study was to evaluate the prevalence and to identify risk factors for abnormal LFTs in patients with IPAA and underlying IBD. All patients were identified from our prospectively maintained Pouchitis Database between 2002 and 2008. Abnormal LFTs were classified as the following: (i) any abnormal elevation of transaminases, and/or alkaline phosphatase (ALP), and/or bilirubin; (ii) hepatitis, if there was more than twice the elevation of transaminases; and (iii) cholestatic, if there was more than 1.5 times elevation of ALP. Clinical, endoscopic, and histological variables were assessed using Cox proportional hazard models for evaluating risk for abnormal LFTs. A total of 545 IPAA patients with underlying IBD were identified from the database, of which 373 patients who had LFTs done after their pouch surgery were included. This included 346 patients with ulcerative colitis, 25 with indeterminate colitis, and 2 with Crohn's colitis before surgery. Their mean age was 45.9+/-13.8 years. A total of 65 patients (17.4%) (40 men, 25 women, median age: 47 years) had abnormal LFTs. Of the patients, 52 (13.9%) had abnormal transaminases, whereas 15 (4%) were classified as having hepatitis. Thirty-five (9.4%) patients had an abnormal ALP level, with 18 (4.8%) classified as cholestatic. The most common cause of an abnormal LFT was transient elevation in 32 (49.2%) patients, followed by fatty liver (fatty change on imaging with body mass index (BMI) > or =25 kg/m(2) in the absence of other causes, including alcohol abuse and drug-induced hepatitis) in 10 (15.4%), drug-induced abnormal LFTs in 7 (10.7%), and chronic hepatitis B or C in 6 (9.2%). Primary sclerosing cholangitis (PSC) was responsible for abnormal

  15. Hemostatic abnormalities in Noonan syndrome.

    PubMed

    Artoni, Andrea; Selicorni, Angelo; Passamonti, Serena M; Lecchi, Anna; Bucciarelli, Paolo; Cerutti, Marta; Cianci, Paola; Gianniello, Francesca; Martinelli, Ida

    2014-05-01

    A bleeding diathesis is a common feature of Noonan syndrome, and various coagulation abnormalities have been reported. Platelet function has never been carefully investigated. The degree of bleeding diathesis in a cohort of patients with Noonan syndrome was evaluated by a validated bleeding score and investigated with coagulation and platelet function tests. If ratios of prothrombin time and/or activated partial thromboplastin time were prolonged, the activity of clotting factors was measured. Individuals with no history of bleeding formed the control group. The study population included 39 patients and 28 controls. Bleeding score was ≥2 (ie, suggestive of a moderate bleeding diathesis) in 15 patients (38.5%) and ≥4 (ie, suggestive of a severe bleeding diathesis) in 7 (17.9%). Abnormal coagulation and/or platelet function tests were found in 14 patients with bleeding score ≥2 (93.3%) but also in 21 (87.5%) of those with bleeding score <2. The prothrombin time and activated partial thromboplastin time were prolonged in 18 patients (46%) and partial deficiency of factor VII, alone or in combination with the deficiency of other vitamin K-dependent factors, was the most frequent coagulation abnormality. Moreover, platelet aggregation and secretion were reduced in 29 of 35 patients (82.9%, P < .01 for all aggregating agents). Nearly 40% of patients with the Noonan syndrome had a bleeding diathesis and >90% of them had platelet function and/or coagulation abnormalities. Results of these tests should be taken into account in the management of bleeding or invasive procedures in these patients. Copyright © 2014 by the American Academy of Pediatrics.

  16. Barriers to Follow-Up for Abnormal Papanicolaou Smears among Female Sex Workers in Lima, Peru.

    PubMed

    Aharon, Devora; Calderon, Martha; Solari, Vicky; Alarcon, Patricia; Zunt, Joseph

    2017-01-01

    Cervical cancer is the most prevalent cancer among Peruvian women. Female sex workers (FSW) in Peru are at elevated risk for HPV infection, and receive annual Papanicolaou screening. The objective of this study was to identify barriers to follow-up for abnormal Pap smears among FSW in Peru. 97 FSW attending the Alberto Barton Health Center in Lima were surveyed regarding their STI screening history. 17 women with a history of an abnormal Pap smear were interviewed about their experiences regarding follow-up care. Of the 27 HPV-positive women, only 8 (30%) received follow-up treatment. Of the 19 women who did not receive follow-up, 7 (37%) had not been informed of their abnormal result. Qualitative interviews revealed that the major barrier to follow-up was lack of knowledge about HPV and potential health consequences of an abnormal Pap smear. HPV infection is highly prevalent in Peruvian FSW, yet only 30% of FSW with abnormal Pap smears receive follow-up care. The predominant barriers to follow-up were lack of standardization in recording and communicating results and insufficient FSW knowledge regarding health consequences of HPV infection. Standardization of record-keeping and distribution of educational pamphlets have been implemented to improve follow-up for HPV.

  17. Neurofibromatosis: chronological history and current issues.

    PubMed

    Antônio, João Roberto; Goloni-Bertollo, Eny Maria; Trídico, Lívia Arroyo

    2013-01-01

    Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.

  18. [The clinical history in surgical processes. Bioethical aspects and basic professional ethics].

    PubMed

    Collazo Chao, Eliseo

    2008-11-01

    Surgeons are increasingly facing multiple civil liability claims from their patients. Against this background and taking any eventual liability claims into account, surgeons must be increasingly aware of the importance of maintaining patient medical histories, which raises numerous questions on the length of time and form of keeping them. Ethical and legal obligations need to be taken into account in order to identify the controversial aspects related to patients and their environment, as well as shedding light on the most appropriate behaviour in each case. We must never forget the case history is a clinical document, subjected to the medical art and medical ethics which regulate it.

  19. A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.

    PubMed

    Sjursen, Wenche; Bjørnevoll, Inga; Engebretsen, Lars F; Fjelland, Kristine; Halvorsen, Tore; Myrvold, Helge E

    2009-01-01

    Turcot syndrome is a rare, inherited disease predisposing of tumours in the central nerve system and in the colorectal system. This report describes a Turcot patient with an extraordinary clinical history. The patient is still alive at the age of 43. She was operated at the age of 10 by brain tumour and at the age of 16 by colorectal cancer. She has since then been treated for multiple cancers (gastrointestinal, endometrial, basal cell carcinomas), and removal of adenomatous polyps at several occasions. The aim of this work was to investigate if there was any specific genotype that explains her remarkable clinical history. Microsatellite instability and immunohistochemistry analysis for four DNA mismatch repair proteins were performed. DNA mutation analysis was done for genes involved in polyposis and mismatch repair by denaturing high performance liquid chromatography and sequencing. cDNA analysis was carried out for the mismatch repair gene PMS2. The patients genotype was found to be a homozygous splice site mutation in the PMS2 gene, c.989-1Gabnormal transcripts, not one as expected. The patient's long time survival may in part be explained by meticulous follow up by health care professionals. The other importing factor is probably the nature of here genotype. cDNA analysis showed that the homozygous mutation led to two abnormal transcripts, of which one is perhaps less detrimental. Thus cDNA analysis is of prime importance for the full evaluation of the effect of putative splicing mutations.

  20. Prevalence and predicting factors for anxiety in thai women with abnormal cervical cytology undergoing colposcopy.

    PubMed

    Jerachotechueantaveechai, Tanut; Charoenkwan, Kittipat; Wongpakaran, Nahathai

    2015-01-01

    To compare prevalence of anxiety in women with abnormal cervical cytology (Pap) undergoing colposcopy to that of women attending the outpatient clinic for check-up and to examine predicting factors. In this cross-sectional analytical study, 100 women with abnormal cervical cytology (abnormal Pap group) and 100 women who attended our outpatient clinic for check-up (control group) were recruited from June 2013 to January 2014. The Hospital Anxiety and Depression Scale (HADS) was employed to determine anxiety in the participants with the score of ≥ 11 suggestive of clinically significant anxiety. The prevalence of anxiety and the mean HADS scores for anxiety were compared between the groups. For those with abnormal Pap, association between clinical factors and anxiety was assessed. A p-value of < 0.05 was considered significant. Median age was different between the groups, 44.0 years in the abnormal Pap group and 50.0 years in the control group (p=0.01). The proportion of participants who had more than one sexual partner was higher in the abnormal Pap group, 39.2% vs. 24.7% (p=0.03) and the prevalence of anxiety was significantly higher 14/100 (14.0%) vs. 3/100 (3.0%) (p < 0.01). The prevalence of depression was comparable between the groups. The mean HADS scores for anxiety and depression subscales were significantly higher in the abnormal Pap group, 6.6 vs. 4.8 (P < 0.01) and 3.9 vs. 3.1 (p=0.05), respectively. For the abnormal Pap group, no definite association between clinical factors and anxiety was demonstrated. The prevalence of anxiety in women with abnormal Pap awaiting colposcopy was significantly higher than that of normal controls. Special attention including thorough counselling, with use of information leaflets and psychological support, should be directed to these women.

  1. Clinical neuropsychology in Israel: history, training, practice and future challenges.

    PubMed

    Vakil, Eli; Hoofien, Dan

    2016-11-01

    This is an invited paper for a special issue on international perspectives on training and practice in clinical neuropsychology. We provide a review of the status of clinical neuropsychology in Israel, including the history of neuropsychological, educational, and accreditation requirements to become a clinical neuropsychologist and to practice clinical neuropsychology. The information is based primarily on the personal knowledge of the authors who have been practicing clinical neuropsychology for over three decades and hold various administrative and academic positions in this field. Second, we conducted three ad hoc surveys among clinical and rehabilitation psychologists; heads of academic programs for rehabilitation and neuropsychology; and heads of accredited service providers. Third, we present a literature review of publications by clinical neuropsychologists in Israel. Most of the clinical neuropsychologists are graduates of either rehabilitation or clinical training programs. The vast majority of neuropsychologists are affiliated with rehabilitation psychology. The training programs (2-3 years of graduate school) provide solid therapeutic and diagnostic skills to the students. Seventy-five percent of the participants in this survey are employed at least part-time by public or state-funded institutions. Israeli neuropsychologists are heavily involved in case management, including vocational counseling, and rehabilitation psychotherapy. Conclusions and future goals: Although clinical neuropsychologists in Israel are well educated and valued by all health professionals, there are still several challenges that must be addressed in order to further advance the field and the profession. These included the need for Hebrew-language standardized and normalized neuropsychological tests and the application of evidence-based interventions in neuropsychological rehabilitation.

  2. Through Clinical Observation: The History of Priapism After Spinal Cord Injuries.

    PubMed

    Turliuc, Mihaela Dana; Turliuc, Serban; Cucu, Andrei Ionut; Tamas, Camelia; Carauleanu, Alexandru; Buzduga, Catalin; Sava, Anca; Dumitrescu, Gabriela Florenta; Costea, Claudia Florida

    2018-01-01

    Since ancient times, physicians of antiquity noted the occurrence of priapism in some spinal cord injuries. Although priests saw it as a consequence of curses and witchcraft, after clinical observations of the Middle Ages and Renaissance, the first medical hypotheses emerged in the 17th-19th centuries completed and argued by neuroscience and neurology developed in the European laboratories and hospitals. This study aims to present a short overview of the history of clinical observations of posttraumatic male priapism after spinal cord injuries since antiquity until the beginning of the 20th century. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  3. Advances in understanding paternally transmitted Chromosomal Abnormalities

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate themore » types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.« less

  4. Understanding the role of violence in incarcerated women's cervical cancer screening and history.

    PubMed

    Ramaswamy, Megha; Kelly, Patricia J; Koblitz, Amber; Kimminau, Kim S; Engelman, Kimberly K

    2011-07-22

    In this exploratory study the authors investigated characteristics, including reported experiences of violence, related to incarcerated women's self-report of cervical cancer screening and cancer history and treatment. During a four month period in 2010, 204 women in Kansas City jails were surveyed. Multiple logistic regression models were used to examine the relations of socio-demographic and community characteristics and history of violence among the women to their cervical cancer screening, diagnosis, and treatment histories. Forty percent of the women in the current sample reported abnormal Pap histories, though only 6% of all Pap smears done in the U.S. are abnormal. Women who reported abuse histories in this study were found to be more likely to report having ever had an abnormal Pap smear (for physical abuse Odds Ratio [OR] = 6.05; CI 2.36, 15.54 and for past year intimate partner violence OR = 2.41; CI 1.09, 5.31). Participants who did not fear neighborhood violence were less likely to report an abnormal Pap history (OR = 0.57; CI 0.34, 0.96) and more likely to visit a family doctor for their Pap screenings (OR = 1.91; CI 1.01, 3.60). Women who perceived greater neighborhood violence had increased odds of reporting that they received Pap screenings in a hospital setting (OR = 1.47; CI 1.08, 2.00). Frequency of Pap screening did not differ in women who did and did not have fear of neighborhood violence. This study highlights the heightened cervical cancer risk experienced by women with criminal justice histories and suggests that violence at several levels has implications for cervical cancer prevention for these women.

  5. Radiographic abnormalities among construction workers exposed to quartz containing dust

    PubMed Central

    Tjoe, N; Burdorf, A; Parker, J; Attfield, M; van Duivenbooden, C; Heederik, D

    2003-01-01

    Background: Construction workers are exposed to quartz containing respirable dust, at levels that may cause fibrosis in the lungs. Studies so far have not established a dose-response relation for radiographic abnormalities for this occupational group. Aims: To measure the extent of radiographic abnormalities among construction workers primarily exposed to quartz containing respirable dust. Methods: A cross sectional study on radiographic abnormalities indicative of pneumoconiosis was conducted among 1339 construction workers mainly involved in grinding, (jack)-hammering, drilling, cutting, sawing, and polishing. Radiological abnormalities were determined by median results of the 1980 International Labour Organisation system of three certified "B" readers. Questionnaires were used for assessment of occupational history, presence of respiratory diseases, and symptoms and smoking habits. Results: An abnormality of ILO profusion category 1/0 and greater was observed on 10.2% of the chest radiographs, and profusion category of 1/1 or greater on 2.9% of the radiographs. The average duration of exposure of this group was 19 years and the average age was 42. The predominant type of small opacities (irregularly shaped) is presumably indicative of mixed dust pneumoconiosis. The prevalence of early signs of nodular silicosis (small rounded opacities of category 1/0 or greater) was low (0.8%). Conclusions: The study suggests an elevated risk of radiographic abnormalities among these workers with expected high exposure. An association between radiographic abnormalities and cumulative exposure to quartz containing dust from construction sites was observed, after correction for potentially confounding variables. PMID:12771392

  6. Anal Cytology and Human Papillomavirus Genotyping in Women With a History of Lower Genital Tract Neoplasia Compared With Low-Risk Women.

    PubMed

    Robison, Katina; Cronin, Beth; Bregar, Amy; Luis, Christine; DiSilvestro, Paul; Schechter, Steven; Pisharodi, Latha; Raker, Christina; Clark, Melissa

    2015-12-01

    To compare the prevalence of abnormal anal cytology and high-risk human papillomavirus (HPV) among women with a history of HPV-related genital neoplasia with women without a history of HPV-related genital neoplasia. A cross-sectional cohort study was performed from December 2012 to February 2014. Women were recruited from outpatient clinics at an academic medical center. Women with a history of high-grade cervical, vulvar, or vaginal cytology, dysplasia, or cancer were considered the high-risk group. Women with no history of high-grade anogenital dysplasia or cancer were considered the low-risk group. Human immunodeficiency virus-positive women were excluded. Anal cytology and HPV genotyping were performed. Women with abnormal anal cytology were referred for high-resolution anoscopy. There were 190 women in the high-risk group and 83 in the low-risk group. The high-risk group was slightly older: 57 years compared with 47 years (P=.045); 21.7% of low-risk women had abnormal anal cytology compared with 41.2% of high-risk women (P=.006). High-risk HPV was detected in the anal canal of 1.2% of the low-risk group compared with 20.8% of the high-risk group (P<.001). Among women who underwent anoscopy, no anal dysplasia was detected in the low-risk group, whereas 13.4% in the high-risk group had anal dysplasia with 4.2% having anal intraepithelial neoplasia 2 or greater (P<.001). Human immunodeficiency virus-negative women with a history of lower genital tract neoplasia are more likely to have positive anal cytology, anal high-risk HPV, and anal intraepithelial neoplasia. Anal cancer screening should be considered for these high-risk women. II.

  7. Observable phenomena that reveal medical students' clinical reasoning ability during expert assessment of their history taking: a qualitative study.

    PubMed

    Haring, Catharina M; Cools, Bernadette M; van Gurp, Petra J M; van der Meer, Jos W M; Postma, Cornelis T

    2017-08-29

    During their clerkships, medical students are meant to expand their clinical reasoning skills during their patient encounters. Observation of these encounters could reveal important information on the students' clinical reasoning abilities, especially during history taking. A grounded theory approach was used to analyze what expert physicians apply as indicators in their assessment of medical students' diagnostic reasoning abilities during history taking. Twelve randomly selected clinical encounter recordings of students at the end of the internal medicine clerkships were observed by six expert assessors, who were prompted to formulate their assessment criteria in a think-aloud procedure. These formulations were then analyzed to identify the common denominators and leading principles. The main indicators of clinical reasoning ability were abstracted from students' observable acts during history taking in the encounter. These were: taking control, recognizing and responding to relevant information, specifying symptoms, asking specific questions that point to pathophysiological thinking, placing questions in a logical order, checking agreement with patients, summarizing and body language. In addition, patients' acts and the course, result and efficiency of the conversation were identified as indicators of clinical reasoning, whereas context, using self as a reference, and emotion/feelings were identified by the clinicians as variables in their assessment of clinical reasoning. In observing and assessing clinical reasoning during history taking by medical students, general and specific phenomena to be used as indicators for this process could be identified. These phenomena can be traced back to theories on the development and the process of clinical reasoning.

  8. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    PubMed

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  9. A history of the American Society for Clinical Investigation

    PubMed Central

    Howell, Joel D.

    2009-01-01

    One hundred years ago, in 1909, the American Society for Clinical Investigation (ASCI) held its first annual meeting. The founding members based this new society on a revolutionary approach to research that emphasized newer physiological methods. In 1924 the ASCI started a new journal, the Journal of Clinical Investigation. The ASCI has also held an annual meeting almost every year. The society has long debated who could be a member, with discussions about whether members must be physicians, what sorts of research they could do, and the role of women within the society. The ASCI has also grappled with what else the society should do, especially whether it ought to take a stand on policy issues. ASCI history has reflected changing social, political, and economic contexts, including several wars, concerns about the ethics of biomedical research, massive increases in federal research funding, and an increasingly large and specialized medical environment. PMID:19348041

  10. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

    PubMed

    Holder, J Lloyd; Quach, Michael M

    2016-10-01

    The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability. 1 Individuals with loss-of-function mutations in SHANK3 have intellectual disability, autism, and variably, epilepsy. 2-5 The spectrum of seizure semiologies and electroencephalography (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in approximately 2% of individuals with moderate to severe intellectual disabilities and 1% of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations. A retrospective chart review was performed of all individuals treated at the Blue Bird Circle Clinic for Child Neurology who have been identified as having either a chromosome 22q13 microdeletion encompassing SHANK3 or a loss-of-function mutation in SHANK3 identified through whole-exome sequencing. For each subject, the presence or absence of seizures, seizure semiology, frequency, age of onset, and efficacy of therapy were determined. Electroencephalography studies were reviewed by a board certified neurophysiologist. Neuroimaging was reviewed by both a board certified pediatric neuroradiologist and child neurologist. There is a wide spectrum of seizure semiologies, frequencies, and severity in individuals with SHANK3 mutations. There are no specific EEG abnormalities found in our cohort, and EEG abnormalities were present in individuals diagnosed with epilepsy and those without history of a clinical seizure. All individuals with a mutation in SHANK3 should be evaluated for epilepsy due to the high prevalence of seizures in this population. The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging

  11. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss of function mutations

    PubMed Central

    Holder, J. Lloyd; Quach, Michael M.

    2017-01-01

    Summary Objective The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability1. Individuals with loss of function mutations in SHANK3 have intellectual disability, autism and variably, epilepsy2–5. The spectrum of seizure semiologies and electroencephalographic (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in approximately two percent of individuals with moderate to severe intellectual disabilities and one percent of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations. Methods A retrospective chart review was performed of all individuals treated at the Blue Bird Circle Clinic for Child Neurology who have been identified as having either a chromosome 22q13 microdeletion encompassing SHANK3 or a loss of function mutation in SHANK3 identified through whole exome sequencing. For each subject, the presence or absence of seizures, seizure semiology, frequency, age of onset and efficacy of therapy were determined. Electroencephalograms were reviewed by a board certified neurophysiologist. Neuroimaging was reviewed by both a board certified pediatric neuroradiologist and child neurologist. Results There is a wide spectrum of seizure semiologies, frequencies and severity in individuals with SHANK3 mutations. There are no specific electroencephalographic abnormalities found in our cohort, and EEG abnormalities were present in individuals diagnosed with epilepsy and those without history of a clinical seizure. Significance All individuals with a mutation in SHANK3 should be evaluated for epilepsy due to the high prevalence of seizures in this population. The most common semiology is atypical absence seizure which can be challenging to identify due to comorbid intellectual disability in individuals with

  12. A case report of spinal dural arteriovenous fistula: origins, determinants, and consequences of abnormal vascular malformations.

    PubMed

    Zakhary, Sherry M; Hoehmann, Christopher L; Cuoco, Joshua A; Hitscherich, Kyle; Alam, Hamid; Torres, German

    2017-06-01

    A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5-10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a case of a 67-year-old female with a spinal dural arteriovenous fistula, provide a pertinent clinical history to the case nosology, and discuss the biology of adhesive proteins, chemotactic molecules, and transcription factors that modify the behavior of the vasculature to possibly cause sensorimotor deficits.

  13. An initial investigation of abnormal bodily phenomena in subjects at ultra high risk for psychosis: Their prevalence and clinical implications.

    PubMed

    Madeira, Luis; Bonoldi, Ilaria; Rocchetti, Matteo; Samson, Carly; Azis, Matilda; Queen, Beverly; Bossong, Matthijs; Perez, Jesus; Stone, James; Allen, Paul; Howes, Oliver D; McGuire, Philip; Raballo, Andrea; Fusar-Poli, Paolo; Ballerini, Massimo; Stanghellini, Giovanni

    2016-04-01

    Contemporary phenomenological research has considered abnormal bodily phenomena (ABP) to be a phenotypic trait of subjects with schizophrenia in their first psychotic episode. Yet the prevalence of ABP and their clinical significance in subjects at Ultra High Risk (UHR) of psychosis remain unidentified. This study is an exploratory investigation of ABP in UHR subjects and matched healthy controls (HCs) examining their relation to clinical features and basic self-disturbances. A sample of 26 UHR and 14 HC subjects from three prodromal and early intervention clinics in South London, West London and Cambridge was assessed with the Abnormal Bodily Phenomena questionnaire (ABPq), Comprehensive Assessment of At-Risk Mental States (CAARMS), the Positive and Negative Syndrome Scale (PANSS), the Social and Occupational Functioning Assessment Scale (SOFAS) and the Examination of Anomalous Self Experiences (EASE) checklist. In our sample ABP occurred in 73.1% of UHR subjects and prominent ABP (proABP) were referred in 53.8% of them. No HC subject reported ABP. The UHR group with proABP had lower CAARMS total score (t=-9.265, p=0.006). There were no differences in PANSS total score (t=-1.235, p=0.277), SOFAS score (H(2) 22.27, p=0.666) and EASE total scores (z=8.565, adjusted p=0.185) in the UHR subjects with prominent ABP versus those that did not. This initial investigation suggests that ABP could be a prevalent phenotypic feature of UHR subjects. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. A Case-Study Assignment to Teach Theoretical Perspectives in Abnormal Psychology.

    ERIC Educational Resources Information Center

    Perkins, David V.

    1991-01-01

    Describes an assignment that requires students to organize, prepare, and revise a case study in abnormal behavior. Explains that students employ a single theoretical perspective in preparing a report on a figure from history, literature, the arts, or current events. Discusses the value of the assignment for students. (SG)

  15. The effect of abnormal colour vision on the ability to identify and outline coloured clinical signs and to count stained bacilli in sputum.

    PubMed

    Campbell, John L; Griffin, Lewis; Spalding, J Anthony B; Mir, Fraz A

    2005-11-01

    To determine if medical practitioners with congenital colour vision deficiencies (CCVD) are less able to identify and delineate the extent of coloured abnormal signs than those with normal colour vision. Twenty-two medical practitioners with CCVD and 17 with normal colour vision, matched for age and gender, were shown 10 photographs. They were asked to identify and outline the extent of the clinical sign in eight that were of vomit or stool (six of these showing fresh blood), one of a skin rash and for one to mark the position of bacilli in sputum stained by the Ziehl-Neelsen method. There were statistically significant differences between the CCVD practitioners and those with normal colour vision in their ability to outline abnormalities in five of the six photographs that showed fresh blood, in the photograph of a rash and in marking the position of bacilli in the photograph of a stained slide. Medical practitioners with CCVD are handicapped in their evaluation of the presence and extent of coloured clinical signs. Medical schools should ensure that students with CCVD are aware of their deficiency and know its severity, so they can take special care in clinical practice.

  16. Clinical course of sly syndrome (mucopolysaccharidosis type VII)

    PubMed Central

    Montaño, Adriana M; Lock-Hock, Ngu; Steiner, Robert D; Graham, Brett H; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Çoker, Mahmut; Bartholomew, Dennis; Sands, Mark S; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K; Ezgü, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E; Bhattacharya, Kaustuv; Franco, José; White, Klane K; Mitchell, Grant A; Cimbalistiene, Loreta; Holtz, Max; Sly, William S

    2016-01-01

    Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. Methods We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. Results We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. Conclusions MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity

  17. The role of clinical pharmacology in molecular genetics

    NASA Technical Reports Server (NTRS)

    Robertson, D.

    1997-01-01

    PROBLEM: Discovering the causes of unusual phenotypes in human subjects is an important aspect of patient-oriented research. MATERIAL: The tools of clinical pharmacology are uniquely useful in addressing these problems. PATIENTS, SUBJECTS, OR CASE HISTORIES: We evaluated a 42-year-old patient with lifelong orthostatic hypotension and ptosis of the eyelids. He underwent a series of biochemical, physiological, and pharmacological tests outlined in this article. RESULTS: These studies indicated that sympathetic innervation was intact but that the sympathetic neurotransmitter was dopamine rather than norepinephrine. These results demonstrated that dopamine-beta-hydroxylase deficiency underlies the clinical abnormalities of this patient. CONCLUSION: In selected individuals with unusual phenotypes, the techniques of clinical chemistry and clinical pharmacology can define the nature of the defect at almost the resolution of the human genome.

  18. Endocrine Abnormalities in Patients with Chronic Kidney Disease.

    PubMed

    Kuczera, Piotr; Adamczak, Marcin; Wiecek, Andrzej

    2015-01-01

    In patients with chronic kidney disease the alterations of the endocrine system may arise from several causes. The kidney is the site of degradation as well as synthesis of many different hormones. Moreover, a number of concomitant pathological conditions such as inflammation, metabolic acidosis and malnutrition may participate in the pathogenesis of endocrine abnormalities in this group of patients. The most pronounced endocrine abnormalities in patients with chronic kidney disease are the deficiencies of: calcitriol, testosterone, insulin-like growth factor and, erythropoietin (EPO). Additionally accumulation of several hormones, such as: prolactin, growth hormone and insulin frequently also occur. The clinical consequences of the abovementioned endocrine abnormalities are among others: anemia, infertility and bone diseases.

  19. Neurofibromatosis: chronological history and current issues*

    PubMed Central

    Antônio, João Roberto; Goloni-Bertollo, Eny Maria; Trídico, Lívia Arroyo

    2013-01-01

    Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease. PMID:23793209

  20. [Surgical History Taking and Clinical Examination: Establishing a Standardised System by Means of a Nation-Wide Academic Teaching Project].

    PubMed

    von Bernstorff, W; Irmer, H; Menges, P; Peters, S; Heidecke, C-D; Busemann, A

    2017-02-01

    Background: History taking and systematic clinical examination are central techniques of physicians. Medicine in general and surgery in particular frequently require immediate decisions and start of therapies. So far, a standardised surgical system for history taking and clinical examination in teaching has been lacking at our faculty. A consensus of all medical faculties on a standardised system could be a tool to improve the medical teaching and education at our teaching institutions. Methods: The established Anglo-Saxonian system of history taking and clinical examination was adapted to our own clinical needs. Thereafter, this system was sent out to all chairmen of general and visceral surgery departments in German University Hospitals asking for evaluation and improvements. We adapted the system according to the chairmen's comments and suggestions. Since winter semester 2011 this system has been integrated into the clinical course of history taking and examination. It is compulsory for all 5th semester students (first clinical year/graduate course) at the Universitätsmedizin Greifswald. In addition, a video was produced demonstrating all major techniques of clinical examination. This video is available for all students on a password blocked site of the World Wide Web. Results: Altogether, 89 % of all contacted chairmen returned their comments and suggestions for improvements. After implementation of the new system, positive evaluations of students increased significantly from 63.5 to 77.0 % in general and abdominal surgery (p < 0.0001) and from 76.4 to 83.5 % in vascular and thoracic surgery (p < 0.0001). Conclusions: The presented system is a standardised tool of history taking and clinical examination applicable for students as well as qualified surgeons in daily routine work. It has been approved by the majority of the departments of surgery of all German university hospitals. Furthermore, it can be applied by other medical specialties, in

  1. The agreement between self-reported cervical smear abnormalities and screening programme records.

    PubMed

    Canfell, Karen; Beral, Valerie; Green, Jane; Cameron, Rebecca; Baker, Krys; Brown, Anna

    2006-01-01

    The Million Women Study is a cohort study of women aged 50-64 years in England and Scotland. As a component of the follow-up questionnaire, participants were asked to indicate if they had an abnormal cervical smear in the previous five years. This study compared self-reported cervical abnormalities with screening records obtained from the National Health Service Cervical Screening Programme. For 1944 randomly selected Million Women Study participants in Oxfordshire, screening records were assessed over a six-year period prior to the date of self-reporting. The six-year period was chosen to allow for errors in the recall of timing of abnormal smears. A total of 68 women (3.5%) had a record of at least one equivocal or abnormal smear within the last six years, whereas 49 women (2.5%) self-reported an abnormality. There was a strong trend for an increased probability of self-reporting a history of an abnormal smear as the severity of the recorded abnormality increased (P <0.001). For women with an NHS record of borderline dyskaryosis, mild dyskaryosis, or moderate dyskaryosis/severe dyskaryosis/invasive cancer, the proportions reporting an abnormality were 40%, 58% and 77%, respectively. For women with negative and inadequate smears, the proportion self-reporting an abnormality were 0.6% and 0.7%, respectively. These results indicate that among women whose screening programme records show an abnormal smear, the proportion self-reporting an abnormality increases with the severity of the recorded lesion. Almost all women with a record of negative or inadequate smear(s) correctly interpret the result and do not self-report an abnormality.

  2. Epidemiology and Prevalence of Abnormal Results for Anal Cytology Screening in HIV-Infected Young Men Who Have Sex with Men.

    PubMed

    Coromilas, Alexandra; Brozovich, Ava; Nelson, John; Neu, Natalie

    2014-03-01

    To determine the prevalence and risk factors for dysplasia in an urban population of HIV-infected young men who have sex with men (YMSM) and to determine the adherence to guidelines for anal cytology screening. The electronic medical record was utilized to collect pre-existing demographic information, medical history, laboratory data, and anal cytology results. Among 60 subjects (mean age 21.2 years) at their first diagnostic anal cytology, 32 (53.3%) had an anal cytological abnormality and 28 (46.7%) had normal anal cytology. The abnormal results were as follows: 21 (65.6%) had atypical squamous cells of undetermined significance (ASCUS), one (3.1%) had atypical squamous cells and high-grade squamous intraepithelial lesion could not be excluded, nine (28.1%) had low-grade squamous intraepithelial lesion, and one (3.1%) had high-grade squamous intraepithelial lesion. In univariate analysis, abnormal anal cytology was not associated with any of the identified risk factors. The proportion of YMSM at the HIV Specialized Care Center who had an anal cytology screen rose from 32.3% (10/31) in 2008, the first full year of anal cytology screening at this clinic, to 81.4% (35/43) in 2012. The prevalence of abnormal anal cytology in this YMSM population is similar to the prevalence in other, primarily adult men who have sex with men, HIV-infected populations. Further studies are necessary to determine risk factors and outcomes of abnormal test results in HIV-infected YMSM populations.

  3. Influence of family history of major depression, bipolar disorder, and suicide on clinical features in patients with major depression and bipolar disorder.

    PubMed

    Serretti, Alessandro; Chiesa, Alberto; Calati, Raffaella; Linotte, Sylvie; Sentissi, Othman; Papageorgiou, Konstantinos; Kasper, Siegfried; Zohar, Joseph; De Ronchi, Diana; Mendlewicz, Julien; Amital, Daniela; Montgomery, Stuart; Souery, Daniel

    2013-03-01

    The extent to which a family history of mood disorders and suicide could impact on clinical features of patients suffering from major depression (MD) and bipolar disorder (BD) has received relatively little attention so far. The aim of the present work is, therefore, to assess the clinical implications of the presence of at least one first- and/or second-degree relative with a history of MD, BD and suicide in a large sample of patients with MD or BD. One thousand one hundred and fifty-seven subjects with MD and 686 subjects with BD were recruited within the context of two large projects. The impact of a family history of MD, BD, and suicide-considered both separately and together-on clinical and socio-demographic variables was investigated. A family history of MD, BD, and suicide was more common in BD patients than in MD patients. A positive family history of mood disorders and/or suicide as well as a positive family history of MD and BD separately considered, but not a positive history of suicide alone, were significantly associated with a comorbidity with several anxiety disorders and inversely associated with age of onset. The clinical implications as well as the limitations of our findings are discussed.

  4. How Abnormal Is the Behaviour of Captive, Zoo-Living Chimpanzees?

    PubMed Central

    Birkett, Lucy P.; Newton-Fisher, Nicholas E.

    2011-01-01

    Background Many captive chimpanzees (Pan troglodytes) show a variety of serious behavioural abnormalities, some of which have been considered as possible signs of compromised mental health. The provision of environmental enrichments aimed at reducing the performance of abnormal behaviours is increasing the norm, with the housing of individuals in (semi-)natural social groups thought to be the most successful of these. Only a few quantitative studies of abnormal behaviour have been conducted, however, particularly for the captive population held in zoological collections. Consequently, a clear picture of the level of abnormal behaviour in zoo-living chimpanzees is lacking. Methods We present preliminary findings from a detailed observational study of the behaviour of 40 socially-housed zoo-living chimpanzees from six collections in the United States of America and the United Kingdom. We determined the prevalence, diversity, frequency, and duration of abnormal behaviour from 1200 hours of continuous behavioural data collected by focal animal sampling. Results, Conclusion and Significance Our overall finding was that abnormal behaviour was present in all sampled individuals across six independent groups of zoo-living chimpanzees, despite the differences between these groups in size, composition, housing, etc. We found substantial variation between individuals in the frequency and duration of abnormal behaviour, but all individuals engaged in at least some abnormal behaviour and variation across individuals could not be explained by sex, age, rearing history or background (defined as prior housing conditions). Our data support a conclusion that, while most behaviour of zoo-living chimpanzees is ‘normal’ in that it is typical of their wild counterparts, abnormal behaviour is endemic in this population despite enrichment efforts. We suggest there is an urgent need to understand how the chimpanzee mind copes with captivity, an issue with both scientific and welfare

  5. How abnormal is the behaviour of captive, zoo-living chimpanzees?

    PubMed

    Birkett, Lucy P; Newton-Fisher, Nicholas E

    2011-01-01

    Many captive chimpanzees (Pan troglodytes) show a variety of serious behavioural abnormalities, some of which have been considered as possible signs of compromised mental health. The provision of environmental enrichments aimed at reducing the performance of abnormal behaviours is increasing the norm, with the housing of individuals in (semi-)natural social groups thought to be the most successful of these. Only a few quantitative studies of abnormal behaviour have been conducted, however, particularly for the captive population held in zoological collections. Consequently, a clear picture of the level of abnormal behaviour in zoo-living chimpanzees is lacking. We present preliminary findings from a detailed observational study of the behaviour of 40 socially-housed zoo-living chimpanzees from six collections in the United States of America and the United Kingdom. We determined the prevalence, diversity, frequency, and duration of abnormal behaviour from 1200 hours of continuous behavioural data collected by focal animal sampling. Our overall finding was that abnormal behaviour was present in all sampled individuals across six independent groups of zoo-living chimpanzees, despite the differences between these groups in size, composition, housing, etc. We found substantial variation between individuals in the frequency and duration of abnormal behaviour, but all individuals engaged in at least some abnormal behaviour and variation across individuals could not be explained by sex, age, rearing history or background (defined as prior housing conditions). Our data support a conclusion that, while most behaviour of zoo-living chimpanzees is 'normal' in that it is typical of their wild counterparts, abnormal behaviour is endemic in this population despite enrichment efforts. We suggest there is an urgent need to understand how the chimpanzee mind copes with captivity, an issue with both scientific and welfare implications.

  6. Hemodiafiltration history, technology, and clinical results.

    PubMed

    Ronco, Claudio; Cruz, Dinna

    2007-07-01

    Hemodiafiltration (HDF) is an extracorporeal renal-replacement technique using a highly permeable membrane, in which diffusion and convection are conveniently combined to enhance solute removal in a wide spectrum of molecular weights. In this modality, ultrafiltration exceeds the desired fluid loss in the patient, and replacement fluid must be administered to achieve the target fluid balance. Over the years, various HDF variants have emerged, including acetate-free biofiltration, high-volume HDF, internal HDF, paired-filtration dialysis, middilution HDF, double high-flux HDF, push-pull HDF, and online HDF. Recent technology has allowed online production of large volumes of microbiologically ultrapure fluid for reinfusion, greatly simplifying the practice of HDF. Several advantages of HDF over purely diffusive hemodialysis techniques have been described in the literature, including a greater clearance of urea, phosphate, beta(2)-microglobulin and other larger solutes, reduction in dialysis hypotension, and improved anemia management. Although randomized controlled trials have failed to show a survival benefit of HDF, recent data from large observational studies suggest a positive effect of HDF on survival. This article provides a brief review of the history of HDF, the various HDF techniques, and summary of their clinical effects.

  7. Coagulation Abnormalities of Sickle Cell Disease: Relationship with Clinical Outcomes and the Effect of Disease Modifying Therapies

    PubMed Central

    Noubouossie, Denis; Key, Nigel S.; Ataga, Kenneth I.

    2015-01-01

    Sickle cell disease (SCD) is a hypercoagulable state. Patients exhibit increased platelet activation, high plasma levels of markers of thrombin generation, depletion of natural anticoagulant proteins, abnormal activation of the fibrinolytic system, and increased tissue factor expression, even in the non-crisis “steady state.” Furthermore, SCD is characterized by an increased risk of thrombotic complications. The pathogenesis of coagulation activation in SCD appears to be multi-factorial, with contributions from ischemia-reperfusion injury and inflammation, hemolysis and nitric oxide deficiency, and increased sickle RBC phosphatidylserine expression. Recent studies in animal models suggest that activation of coagulation may contribute to the pathogenesis of SCD, but the data on the contribution of coagulation and platelet activation to SCD-related complications in humans are limited. Clinical trials of new generations of anticoagulants and antiplatelet agents, using a variety of clinical endpoints are warranted. PMID:26776344

  8. Reappraisal of abnormal EEG findings in children with ADHD: on the relationship between ADHD and epileptiform discharges.

    PubMed

    Kanazawa, Osamu

    2014-12-01

    Attention-deficit hyperactivity disorder is suggested to be closely related to epilepsy. A recent large-scale study revealed that ADHD in children is often accompanied by epilepsy. In Japan, methylphenidate (MPH) as a sustained-action tablet and atomoxetine (ATX) became commercially available as medications for children recently. Since then, the number of prescriptions of both medicines has increased rapidly. Methylphenidate, as a psychostimulant, has been a source of concern because of the perceived lowered threshold for convulsions in children. Based on this background, reappraisal of EEG findings in children with ADHD is important in order to detect indications of potential comorbid epilepsy and to investigate the developmental mechanisms of the neurophysiological manifestations in patients with ADHD. EEG findings in children newly diagnosed with ADHD and their relationship with clinical findings were investigated. The author evaluated 208 patients with ADHD newly diagnosed between 2008 and 2013. Of these, there were 145 patients for whom EEG findings were obtained along with a clinical follow-up for at least three months. Patients with IQ<70 were excluded in order to obtain a homogenous group of patients with ADHD. The male-to-female ratio was 130:15, and the age range was between 5 years, 9 months and 19 years, 9 months, with mean age of 11 years, 4 months. The results revealed that about half (48.3%) of the children with ADHD had abnormal EEG findings and that 22.1% of them had epileptiform discharges. Patients without comorbidity of autism spectrum disorder (ore homogenous group with ADHD) were especially likely to show abnormal EEG findings (51.0%) including epileptiform discharges (24.5%). Afebrile seizures, that is, epileptic seizures, occurred in a boy three days after commencement of administration with MPH as a sustained-action tablet. In four patients with a past history of epilepsy, neither relapse of EEG abnormality nor epileptic seizures were

  9. Predictors of clinical outcome following lumbar disc surgery: the value of historical, physical examination, and muscle function variables.

    PubMed

    Hebert, Jeffrey J; Fritz, Julie M; Koppenhaver, Shane L; Thackeray, Anne; Kjaer, Per

    2016-01-01

    Explore the relationships between preoperative findings and clinical outcome following lumbar disc surgery, and investigate the prognostic value of physical examination findings after accounting for information acquired from the clinical history. We recruited 55 adult patients scheduled for first time, single-level lumbar discectomy. Participants underwent a standardized preoperative evaluation including real-time ultrasound imaging assessment of lumbar multifidus function, and an 8-week postoperative rehabilitation programme. Clinical outcome was defined by change in disability, and leg and low back pain (LBP) intensity at 10 weeks. Linear regression models were used to identify univariate and multivariate predictors of outcome. Univariate predictors of better outcome varied depending on the outcome measure. Clinical history predictors included a greater proportion of leg pain to LBP, pain medication use, greater time to surgery, and no history of previous physical or injection therapy. Physical examination predictors were a positive straight or cross straight leg raise test, diminished lower extremity strength, sensation or reflexes, and the presence of postural abnormality or pain peripheralization. Preoperative pain peripheralization remained a significant predictor of improved disability (p = 0.04) and LBP (p = 0.02) after accounting for information from the clinical history. Preoperative lumbar multifidus function was not associated with clinical outcome. Information gleaned from the clinical history and physical examination helps to identify patients more likely to succeed with lumbar disc surgery. While this study helps to inform clinical practice, additional research confirming these results is required prior to confident clinical implementation.

  10. Clinical approach to optic neuropathies

    PubMed Central

    Behbehani, Raed

    2007-01-01

    Optic neuropathy is a frequent cause of vision loss encountered by ophthalmologist. The diagnosis is made on clinical grounds. The history often points to the possible etiology of the optic neuropathy. A rapid onset is typical of demyelinating, inflammatory, ischemic and traumatic causes. A gradual course points to compressive, toxic/nutritional and hereditary causes. The classic clinical signs of optic neuropathy are visual field defect, dyschromatopsia, and abnormal papillary response. There are ancillary investigations that can support the diagnosis of optic neuropathy. Visual field testing by either manual kinetic or automated static perimetry is critical in the diagnosis. Neuro-imaging of the brain and orbit is essential in many optic neuropathies including demyelinating and compressive. Newer technologies in the evaluation of optic neuropathies include multifocal visual evoked potentials and optic coherence tomography. PMID:19668477

  11. [Incidence of exercise-induced bronchospasm (E.I.B.) and its correlation with clinical history in children with allergic asthma].

    PubMed

    Novembre, E; Dini, L; Veneruso, G; Lombardi, E; Bernardini, R; Vierucci, A

    1993-01-01

    In this study, 65 allergic asthmatic children were evaluated for the presence of exercise induced bronchospasm (E.I.B.). Pulmonary function (volume at 1 second of forced expiration--FEV1; maximal mid-expiratory flow--FEF 25-75; peak expiratory flow--PEF) was assessed before and serially for 20' following treadmill exercise. Only 18 children (27.6%) presented a fall in FEV1 > or = 20%. There was a relationship between severity of asthma and incidence of E.I.B., as children with episodic, frequent and chronic asthma presented respectively 13/55 (23.4%), 2/6 (33.3%) and 3/4 (75%) of positive responses. The presence of E.I.B. cannot be predicted by clinical history, as 15/36 (41.7%) of subjects with positive clinical history had E.I.B., against 3/29 (10.3%) of subjects with negative clinical history (p = n.s.). E.I.B. in asthmatic children is less frequent as reported, correlates with severity of asthma and cannot be accurately predicted from the history.

  12. Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

    PubMed Central

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

    2008-01-01

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

  13. Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes.

    PubMed

    Dul, E C; van Echten-Arends, J; Groen, H; Dijkhuizen, T; Land, J A; van Ravenswaaij-Arts, C M A

    2012-09-01

    How many infertile men who wish to conceive need to be screened for chromosomal abnormalities to prevent one miscarriage or the birth of one child with congenital anomalies (CAs)? In azoospermic men, the prevalence of chromosomal abnormalities is 15.2% and the number needed to be screened (NNS; minimum-maximum estimate) for a miscarriage is 80-88 and for a child with CAs is 790-3951. The prevalence of chromosomal abnormalities in non-azoospermic men is 2.3% and the NNS are 315-347 and 2543-12 723, respectively. Guidelines advise the screening of infertile men for chromosomal abnormalities to prevent miscarriages and children with congenital abnormalities, but no studies have been published on the effectiveness of this screening strategy. Retrospective cohort study of 1223 infertile men between 1994 and 2007. Men with azoospermia and men eligible for ICSI treatment visiting a university hospital fertility clinic in The Netherlands who underwent chromosomal analysis between 1994 and 2007 were identified retrospectively in a registry. Only cases of which at least one sperm analysis was available were included. Data were collected by chart review, with a follow-up of pregnancies and their outcomes until 2010. The chromosomal abnormalities were categorized according to their risk of unbalanced offspring, i.e. miscarriage and/or child with CAs. Multi-level analysis was used to estimate the impact of chromosomal abnormalities on the outcome of pregnancies in the different subgroups of our cohort. NNS for miscarriages and children with CAs were calculated based on data from our cohort and data published in the literature. A chromosomal abnormality was found in 12 of 79 men with azoospermia (15.2%) and in 26 of 1144 non-azoospermic men (2.3%). The chromosomal abnormalities were categorized based on the literature, into abnormalities with and abnormalities without increased risk for miscarriage and/or child with CAs. In our study group, there was no statistically significant

  14. Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

    PubMed

    Fiaschi, Pietro; Severino, Mariasavina; Ravegnani, Giuseppe Marcello; Piatelli, Gianluca; Consales, Alessandro; Accogli, Andrea; Capra, Valeria; Cama, Armando; Pavanello, Marco

    2016-06-01

    Spontaneous or idiopathic intramedullary bleeding is a very rare event in pediatric patients. This diagnosis requires an extended clinical, laboratory, and radiologic work-up to rule out all potential causes of hematomyelia. However, children may present with hematomyelia or spinal cord injury without radiographic abnormality even after a minor trauma. A 15-month-old girl presented with a 24-hour history of progressive neurologic deficits. A trivial trauma had occurred a few days before the clinical onset. Head computed tomography scan and craniospinal magnetic resonance imaging revealed an isolated hemorrhagic central medullary lesion extending from the obex to C3 level. No underlying causes of intramedullary bleeding were identified. In the absence of obvious vascular abnormalities, the patient underwent an urgent occipitocervical decompression with hematoma evacuation. Postoperatively, the patient's motor symptoms rapidly resolved, and she was discharged with cervical collar immobilization. We discuss the differential diagnosis of intramedullary bleeding in children, focusing on the diagnostic protocol and therapeutic options in this age group. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Abnormal brain structure implicated in stimulant drug addiction.

    PubMed

    Ersche, Karen D; Jones, P Simon; Williams, Guy B; Turton, Abigail J; Robbins, Trevor W; Bullmore, Edward T

    2012-02-03

    Addiction to drugs is a major contemporary public health issue, characterized by maladaptive behavior to obtain and consume an increasing amount of drugs at the expense of the individual's health and social and personal life. We discovered abnormalities in fronto-striatal brain systems implicated in self-control in both stimulant-dependent individuals and their biological siblings who have no history of chronic drug abuse; these findings support the idea of an underlying neurocognitive endophenotype for stimulant drug addiction.

  16. Breastfeeding and the prevention of breast cancer: a retrospective review of clinical histories.

    PubMed

    González-Jiménez, Emilio; García, Pedro A; Aguilar, María José; Padilla, Carlos A; Álvarez, Judit

    2014-09-01

    To evaluate at what age parous and nonparous women were diagnosed with breast cancer. Factors taken into account for parous women were whether they had breastfed their children, and if so, the length of the lactation period. Other factors considered for both groups were obesity, family histories of cancer, smoking habits and alcohol consumption. Breast cancer is the most common form of cancer in younger women in Western countries. Its growing incidence as well as the increasingly early age of diagnosis led us to carefully analyse its possible causes and the preventive measures to be taken. This is a particularly important goal in epidemiological research. A retrospective study of the clinical histories of patients diagnosed with breast cancer at the San Cecilio University Hospital in Granada (Spain). In this study, we analysed 504 medical records of female patients, 19-91 years of age, who had been diagnosed and treated for breast cancer from 2004-2009 at the San Cecilio University Hospital in Granada (Spain). Relevant data (age of diagnosis, period of lactation, family history of cancer, obesity, alcohol consumption and smoking habits) were collected from the clinical histories of each patient and analysed. A conditional inference tree was used to relate the age of diagnosis to smoking habits and the length of the lactation period. The conditional inference tree identified significant differences between the age of the patients at breast cancer diagnosis, smoking habits (p < 0·001) and lactation period if the subjects had breastfed their children for more than six months (p = 0·006), regardless of whether they had a family history of cancer. Our study concluded that breastfeeding for over six months not only provides children with numerous health benefits, but also protects mothers from breast cancer when the mothers are nonsmokers. Nurses play a crucial role in encouraging new mothers to breastfeed their children, and this helps to prevent breast cancer.

  17. Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

    PubMed

    Reinstein, Eyal; Pariani, Mitchel; Bannykh, Serguei; Rimoin, David L; Schievink, Wouter I

    2013-04-01

    We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been carefully examined for the presence of connective tissue abnormalities, and based on findings, patients underwent genetic testing. Ancillary diagnostic studies included echocardiography, eye exam, and histopathological examinations of skin and dura biopsies in selected patients. We identified nine patients with heritable connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome and other unclassified forms. In seven patients, spontaneous CSF leak was the first noted manifestation of the genetic disorder. We conclude that spontaneous CSF leaks are associated with a spectrum of connective tissue abnormalities and may be the first noted clinical presentation of the genetic disorder. We propose that there is a clinical basis for considering spontaneous CSF leak as a clinical manifestation of heritable connective tissue disorders, and we suggest that patients with CSF leaks should be screened for connective tissue and vascular abnormalities.

  18. Gamma band oscillations: a key to understanding schizophrenia symptoms and neural circuit abnormalities.

    PubMed

    McNally, James M; McCarley, Robert W

    2016-05-01

    We review our current understanding of abnormal γ band oscillations in schizophrenia, their association with symptoms and the underlying cortical circuit abnormality, with a particular focus on the role of fast-spiking parvalbumin gamma-aminobutyric acid (GABA) neurons in the disease state. Clinical electrophysiological studies of schizophrenia patients and pharmacological models of the disorder show an increase in spontaneous γ band activity (not stimulus-evoked) measures. These findings provide a crucial link between preclinical and clinical work examining the role of γ band activity in schizophrenia. MRI-based experiments measuring cortical GABA provides evidence supporting impaired GABAergic neurotransmission in schizophrenia patients, which is correlated with γ band activity level. Several studies suggest that stimulation of the cortical circuitry, directly or via subcortical structures, has the potential to modulate cortical γ activity, and improve cognitive function. Abnormal γ band activity is observed in patients with schizophrenia and disease models in animals, and is suggested to underlie the psychosis and cognitive/perceptual deficits. Convergent evidence from both clinical and preclinical studies suggest the central factor in γ band abnormalities is impaired GABAergic neurotransmission, particularly in a subclass of neurons which express parvalbumin. Rescue of γ band abnormalities presents an intriguing option for therapeutic intervention.

  19. Gamma band oscillations: a key to understanding schizophrenia symptoms and neural circuit abnormalities

    PubMed Central

    McNally, James M.; McCarley, Robert W.

    2016-01-01

    Purpose of review We review our current understanding of abnormal γ band oscillations in schizophrenia, their association with symptoms and the underlying cortical circuit abnormality, with a particular focus on the role of fast-spiking parvalbumin gamma-aminobutyric acid (GABA) neurons in the disease state. Recent findings Clinical electrophysiological studies of schizophrenia patients and pharmacological models of the disorder show an increase in spontaneous γ band activity (not stimulus-evoked) measures. These findings provide a crucial link between preclinical and clinical work examining the role of γ band activity in schizophrenia. MRI-based experiments measuring cortical GABA provides evidence supporting impaired GABAergic neurotransmission in schizophrenia patients, which is correlated with γ band activity level. Several studies suggest that stimulation of the cortical circuitry, directly or via subcortical structures, has the potential to modulate cortical γ activity, and improve cognitive function. Summary Abnormal γ band activity is observed in patients with schizophrenia and disease models in animals, and is suggested to underlie the psychosis and cognitive/perceptual deficits. Convergent evidence from both clinical and preclinical studies suggest the central factor in γ band abnormalities is impaired GABAergic neurotransmission, particularly in a subclass of neurons which express parvalbumin. Rescue of γ band abnormalities presents an intriguing option for therapeutic intervention. PMID:26900672

  20. From papyrus to the electronic tablet: a brief history of the clinical medical record with lessons for the digital age.

    PubMed

    Gillum, Richard F

    2013-10-01

    A major transition is underway in documentation of patient-related data in clinical settings with rapidly accelerating adoption of the electronic health record and electronic medical record. This article examines the history of the development of medical records in the West in order to suggest lessons applicable to the current transition. The first documented major transition in the evolution of the clinical medical record occurred in antiquity, with the development of written case history reports for didactic purposes. Benefiting from Classical and Hellenistic models earlier than physicians in the West, medieval Islamic physicians continued the development of case histories for didactic use. A forerunner of modern medical records first appeared in Paris and Berlin by the early 19th century. Development of the clinical record in America was pioneered in the 19th century in major teaching hospitals. However, a clinical medical record useful for direct patient care in hospital and ambulatory settings was not developed until the 20th century. Several lessons are drawn from the 4000-year history of the medical record that may help physicians improve patient care in the digital age. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Prevalence of vaginal candidiasis among pregnant women with abnormal vaginal discharge in Maiduguri.

    PubMed

    Ibrahim, S M; Bukar, M; Mohammed, Y; Mohammed, B; Yahaya, M; Audu, B M; Ibrahim, H M; Ibrahim, H A

    2013-01-01

    Pregnancy represents a risk factor in the occurrence of vaginal candidiasis. To determine the prevalence and clinical features associated with abnormal vaginal discharge and C. albicans infection in pregnant women. High vaginal swab samples and data on epidemiological characteristics were collected from 400 pregnant women with complaints of abnormal vaginal discharge at booking clinic of University of Maiduguri Teaching Hospital. The data was analysed using SPSS 16.0 statistical software. The prevalence of abnormal vaginal discharge in pregnancy was 31.5%. The frequency of abnormal vaginal discharge was 183 (45.8%) among those aged 20-24 years, 291 (72.8%) in multipara, 223 (55.8%) in those with Primary education and 293 (73.2%) in unemployed. Vulval pruritus 300 (75.0%) was significantly related to abnormal vaginal discharge (P < 0.001). The prevalence of C. albicans was 41%. The frequencies of Vulval itching, Dyspareunia and vulval excoriation among those with candidiasis were 151 (50.3%), 14 (56.0%) and 75 (75.0%) respectively (P < 0.001). The prevalence of abnormal vaginal discharge in pregnancy was high in this study and C. albicans was the commonest cause. It is recommended that a pregnant woman complaining of abnormal vaginal discharge be assessed and Laboratory diagnosis done in order to give appropriate treatment.

  2. Pain-processing abnormalities in bipolar I disorder, bipolar II disorder, and schizophrenia: A novel trait marker for psychosis proneness and functional outcome?

    PubMed

    Minichino, Amedeo; Delle Chiaie, Roberto; Cruccu, Giorgio; Piroso, Serena; Di Stefano, Giulia; Francesconi, Marta; Bersani, Francesco Saverio; Biondi, Massimo; Truini, Andrea

    2016-11-01

    Overlapping neural system dysfunctions, mainly involving the secondary somatosensory cortex (S2), the anterior cingulate cortex (ACC) and the anterior insular cortex (AIC), seem to be related to both pain-perception abnormalities and psychotic symptoms in schizophrenia (SCZ) and bipolar disorder (BD). Laser-evoked potentials (LEPs) were used to investigate pain-perception and central pain-processing abnormalities in SCZ, bipolar I disorder (BD-I), and bipolar II disorder (BD-II), and to evaluate their relationship with history of psychosis, and social-cognitive and functional impairments. Twenty patients with SCZ, 17 patients with BD-I, and 21 patients with BD-II who were all under similar pharmacological treatment underwent clinical, functional, and neuro-psychological assessment. LEPs were analyzed in patients and 19 healthy subjects (HS). LEPs elicit responses reflecting the activity of the S2 (N1 wave) and the ACC/AIC cortices (N2/P2 complex). A four-group ANOVA was conducted between patients and HS to compare pain-perceptive thresholds (PThs), N1, and N2/P2-LEP components. Compared to HS: (i) patients with SCZ showed pain-processing and pain-perception abnormalities, as revealed by significantly higher PTh (P<.01), and lower N1 (P<.01) and N2/P2 (P<.01) amplitudes, (ii) patients with BD-I showed only pain-processing abnormalities, as revealed by significantly lower N1 (P<.05) and N2 (P<.01) amplitudes; and patients with BD-II did not differ for any of the LEP variables investigated. N1 and N2 amplitudes negatively correlated to history of psychosis (P<.01), social-cognition (P<.05), and real-world functioning (P<.01) measures in the whole group of patients. To the best of our knowledge, this is the first study comparing central pain processing in patients with SCZ, BD-I, and BD-II. Our results suggest that pain-processing abnormalities may represent a novel locus of interest for research investigating trait markers of the psychosis spectrum. © 2016 John Wiley

  3. Cesarean section scar as a cause of abnormal vaginal bleeding: diagnosis by sonohysterography.

    PubMed

    Thurmond, A S; Harvey, W J; Smith, S A

    1999-01-01

    A previously undescribed cause of abnormal uterine bleeding is presented. Nine of 310 women evaluated by sonohysterography for abnormal bleeding demonstrated an 8 to 17 mm gap in the anterior lower uterine segment myometrium at the site of prior cesarean deliveries. All women were premenopausal and had a history of 2 to 12 days of postmenstrual spotting. Presumably a lack of coordinated muscular contractions occurs around the cesarean scar, allowing the defect to collect menstrual debris. Subsequently, the debris leaches out through the cervix for several days after the majority of menstrual flow has ceased.

  4. Vision screening of abused and neglected children by the UCLA Mobile Eye Clinic.

    PubMed

    Yoo, R; Logani, S; Mahat, M; Wheeler, N C; Lee, D A

    1999-07-01

    The purpose of our study was to present descriptive findings of ocular abnormalities in vision screening examinations of abused and neglected children. We compared the prevalence and the nature of eye diseases and refractive error between abused and neglected boys staying at the Hathaway Home, a residential facility for abused children, and boys from neighboring Boys and Girls clubs. The children in the study received vision screening examinations through the UCLA Mobile Eye Clinic following a standard format. Clinical data were analyzed by chi-square test. The children with a history of abuse demonstrated significantly higher prevalence of myopia, astigmatism, and external eye disorders. Our study suggests that children with a history of abuse may be at higher risk for visual impairment. These visual impairments may be the long-term sequelae of child abuse.

  5. Subclinical and clinical correlates of left ventricular wall motion abnormalities in the community.

    PubMed

    Tsao, Connie W; Gona, Philimon; Salton, Carol; Danias, Peter G; Blease, Susan; Hoffmann, Udo; Fox, Caroline S; Albert, Mark; Levy, Daniel; O'Donnell, Christopher J; Manning, Warren J; Yeon, Susan B

    2011-03-15

    The prevalence and clinical correlates of left ventricular (LV) wall motion abnormalities (WMAs), associated with morbidity and mortality, have not been well-characterized in the population. Framingham Heart Study Offspring Cohort participants (n = 1,794, 844 men, age 65 ± 9 years) underwent cine cardiovascular magnetic resonance for evaluation of LV function. A subset (n = 1,009, 460 men) underwent cardiac multidetector computed tomography for analysis of coronary artery calcium. The presence of coronary heart disease and heart failure (CHD-HF) were assessed in relation to the presence of WMAs. WMAs were present in 117 participants (6.5%) and were associated with male gender, elevated hemoglobin A1c, LV mass, LV end-diastolic volume, and lower LV ejection fraction. Of the 1,637 participants without CHD-HF, 68 (4.2%) had WMAs. In this group, WMAs were associated with obesity, hypertension, and Framingham coronary heart disease risk score in the age- and gender-adjusted analyses and were associated with male gender and hypertension on multivariate analysis. Most subjects with WMAs were in the greatest coronary artery calcium groups. The presence of coronary artery calcium greater than the seventy-fifth percentile and Agatston score >100 were associated with a greater than twofold risk of WMAs in the age- and gender-adjusted analysis but were no longer significant when additionally adjusted for CHD-HF. Previous Q-wave myocardial infarction was present in 29% of the 117 participants with WMAs. In conclusion, in the present longitudinally followed free-living population, 4.2% of the participants without CHD-HF had WMAs. WMAs were associated with the clinical parameters associated with cardiovascular disease risk. Aggressive risk factor modification may be prudent for subjects with WMAs, particularly those free of clinical CHD-HF. Copyright © 2011 Elsevier Inc. All rights reserved.

  6. Physical examination and history-taking skills in a prostate clinic.

    PubMed

    Wareing, Mark

    The proliferation of nurse-led initiatives arising from nurse specialist/practitioner posts in urology is reflected in areas such as the management of bladder cancer, erectile dysfunction, stoma care, and prostate disease. The establishment of the role of urology specialist nurse in one North Oxfordshire hospital led to the development of a nurse-led prostate assessment clinic for male patients with lower urinary tract symptoms arising from benign prostatic hyperplasia. A description of how training was conducted, and the subsequent reappraisal of competency, is given in relation to physical examination and history-taking skills necessary for the development of this initiative.

  7. Thoracic outlet syndrome: a controversial clinical condition. Part 1: anatomy, and clinical examination/diagnosis

    PubMed Central

    Hooper, Troy L; Denton, Jeff; McGalliard, Michael K; Brismée, Jean-Michel; Sizer, Phillip S

    2010-01-01

    Thoracic outlet syndrome (TOS) is a frequently overlooked peripheral nerve compression or tension event that creates difficulties for the clinician regarding diagnosis and management. Investigators have categorized this condition as vascular versus neurogenic, where vascular TOS can be subcategorized as either arterial or venous and neurogenic TOS can subcategorized as either true or disputed. The thoracic outlet anatomical container presents with several key regional components, each capable of compromising the neurovascular structures coursing within. Bony and soft tissue abnormalities, along with mechanical dysfunctions, may contribute to neurovascular compromise. Diagnosing TOS can be challenging because the symptoms vary greatly amongst patients with the disorder, thus lending to other conditions including a double crush syndrome. A careful history and thorough clinical examination are the most important components in establishing the diagnosis of TOS. Specific clinical tests, whose accuracy has been documented, can be used to support a clinical diagnosis, especially when a cluster of positive tests are witnessed. PMID:21655389

  8. Clinical spectrum of patients with erosion of the inner ear by jugular bulb abnormalities.

    PubMed

    Friedmann, David R; Le, B Thuy; Pramanik, Bidyut K; Lalwani, Anil K

    2010-02-01

    Anatomic variants of the jugular bulb (JB) are common; however, abnormalities such as large high riding JB and JB diverticulum (JBD) are uncommon. Rarely, the abnormal JB may erode into the inner ear. The goal of our study is to report a large series of patients with symptomatic JB erosion into the inner ear. Retrospective review in an academic medical center. Eleven patients with JB abnormality eroding into the inner ear were identified on computed tomography (CT) scan of the temporal bone. Age at presentation was from 5 years to 82 years with six males and five females. The large JB or JBD eroded into the vestibular aqueduct (n = 9) or the posterior semicircular canal (n = 4). The official radiology report usually identified the JB abnormality; however, erosion into these structures by the JB was not mentioned in all but one case. All patients were symptomatic with five having conductive hearing loss (CHL) and three complaining of pulsatile tinnitus. Those with pulsatile tinnitus and four of five with CHL had erosion into the vestibular aqueduct. Vestibular evoked myogenic potential (VEMP) findings in three of six patients were consistent with dehiscence of the inner ear. High riding large JB or JBD can erode into the inner ear and may be associated with CHL and/or pulsatile tinnitus. CT scan is diagnostic and should be examined specifically for these lesions. As patients with pulsatile tinnitus may initially undergo a magnetic resonance imaging scan, identification of JB abnormality should prompt CT scan or VEMP testing to evaluate for inner ear erosion.

  9. Comparison of Patient Health History Questionnaires Used in General Internal and Family Medicine, Integrative Medicine, and Complementary and Alternative Medicine Clinics.

    PubMed

    Laube, Justin G R; Shapiro, Martin F

    2017-05-01

    Health history questionnaires (HHQs) are a set of self-administered questions completed by patients prior to a clinical encounter. Despite widespread use, minimal research has evaluated the content of HHQs used in general internal medicine and family medicine (GIM/FM), integrative medicine, and complementary and alternative medicine (CAM; chiropractic, naturopathic, and Traditional Chinese Medicine [TCM]) clinics. Integrative medicine and CAM claim greater emphasis on well-being than does GIM/FM. This study investigated whether integrative medicine and CAM clinics' HHQs include more well-being content and otherwise differ from GIM/FM HHQs. HHQs were obtained from GIM/FM (n = 9), integrative medicine (n = 11), naturopathic medicine (n = 5), chiropractic (n = 4), and TCM (n = 7) clinics in California. HHQs were coded for presence of medical history (chief complaint, past medical history, social history, family history, surgeries, hospitalizations, medications, allergies, review of systems), health maintenance procedures (immunization, screenings), and well-being components (nutrition, exercise, stress, sleep, spirituality). In HHQs of GIM/FM clinics, the average number of well-being components was 1.4 (standard deviation [SD], 1.4) compared with 4.0 (SD, 1.1) for integrative medicine (p < 0.01), 3.2 (SD, 2.1) for naturopathic medicine (p = 0.04), 2.0 (SD, 1.4) for chiropractic (p = 0.54), and 2.0 (SD, 1.5) for TCM (p = 0.47). In HHQs of GIM/FM clinics, the average number of medical history components was 6.4 (SD, 1.9) compared with 8.3 (SD, 1.2) for integrative medicine (p = 0.01), 9.0 (SD, 0) for naturopathic medicine (p = 0.01), 7.1 (SD, 2.8) for chiropractic (p = 0.58), and 7.1 (SD, 1.7) for TCM (p = 0.41). Integrative and naturopathic medicine HHQs included significantly more well-being and medical history components than did GIM/FM HHQs. Further investigation is warranted to determine the optimal HHQ content to

  10. New daily persistent headache: A lack of an association with white matter abnormalities on neuroimaging.

    PubMed

    Rozen, Todd D

    2016-09-01

    To provide results from the largest study of new daily persistent headache patients to date and specifically evaluate if patients with primary new daily persistent headache develop white matter abnormalities or infarct-like lesions on neuroimaging. Retrospective analysis of patient medical records utilizing an electronic medical record system. All patients were seen at a headache specialty clinic by a single headache neurologist and diagnosed with primary new daily persistent headache during the time period of January 2009 to January 2013. Altogether, 97 patients were diagnosed with primary new daily persistent headache (65 women and 32 men). The mean average age of onset was slightly younger in women than men: 32.4 years vs. 35.8 years. In total, 84 of the 97 new daily persistent headache patients had no white matter abnormalities or infarct-like lesions on magnetic resonance imaging with a gender distribution of 56 women and 28 men. The mean age of onset of this white matter negative subgroup was 31.1 years. Of these individuals, 36% had cardiovascular/cerebrovascular risk factors and 44% had a history of migraine. Only 13 new daily persistent headache patients (nine women, four men) demonstrated white matter abnormalities on magnetic resonance imaging. None had infarct-like lesions. The mean age of onset of this white matter positive subgroup was 54.2 years, significantly older than the white matter negative population (p < .05). All new daily persistent headache patients in the white matter positive subgroup had cardiovascular/cerebrovascular risk factors and dual risk factors were noted in seven of 13 patients. Only 23% had a migraine history. Almost 40% of the patients in the white matter negative group were imaged 3 years after headache onset and at least six patients were imaged at least 9 years or more after onset of new daily persistent headache. Triggering events in both white matter lesion positive and negative populations were typical of the new

  11. Development of a Primary Care-Based Clinic to Support Adults With a History of Childhood Cancer: The Tactic Clinic.

    PubMed

    Overholser, Linda S; Moss, Kerry M; Kilbourn, Kristin; Risendal, Betsy; Jones, Alison F; Greffe, Brian S; Garrington, Timothy; Leonardi-Warren, Kristin; Yamashita, Traci E; Kutner, Jean S

    2015-01-01

    Describe the development and evolution of a primary-care-based, multidisciplinary clinic to support the ongoing care of adult survivors of childhood cancer. A consultative clinic for adult survivors of childhood cancer has been developed that is located in an adult, academic internal medicine setting and is based on a long-term follow-up clinic model available at Children's Hospital Colorado. The clinic opened in July 2008. One hundred thirty-five patients have been seen as of April 2014. Referrals and clinic capacity have gradually increased over time, and a template has been developed in the electronic medical record to help facilitate completion of individualized care plan letters. A primary care-based, multidisciplinary consultative clinic for adults with a history of childhood cancer survivor is feasible and actively engages adult primary care resources to provide risk-based care for long-term pediatric cancer survivors. This model of care planning can help support adult survivors of pediatric cancer and their primary care providers in non-academic, community settings as well. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Electrocardiogram Screening in Children with Congenital Sensorineural Hearing Loss: Prevalence and Follow-up of Abnormalities.

    PubMed

    Farzal, Zainab; Walsh, Jonathan; Ahmad, Faisal I; Roberts, Jason; Ferns, Sunita J; Zdanski, Carlton J

    2018-03-01

    Objective The purpose is to determine the prevalence of electrocardiogram (ECG) abnormalities, including borderline and prolonged QT, among screened children with sensorineural hearing loss (SNHL) and to analyze their subsequent medical workup. Study Design Institutional Review Board-approved case series with chart review. Setting Tertiary academic center. Subjects and Methods Cases from 1996 to 2014 involving pediatric patients (N = 1994) with SNHL were analyzed. Abnormal ECGs were categorized as borderline/prolonged QT or other. A board-certified pediatric cardiologist retrospectively determined the clinical significance of ECG changes. For follow-up analysis, children with heart disease, known syndromes, or inaccessible records were excluded. Results Among 772 children who had ECGs, 215 (27.8%) had abnormal results: 35 (4.5%) with QT abnormalities and 180 (23.3%) with other abnormalities. For children with QT abnormalities meeting inclusion criteria (n = 30), follow-up measures included cardiology referral (46.6%), repeat ECG by ear, nose, and throat (ENT) specialist (20%), clearance by ENT specialist with clinical correlation and/or comparison with old ECGs (20%), and pediatrician follow-up (6.7%). Documentation of further workup by ENT or referral was absent for 6.7%. For children with other ECG changes meeting inclusion criteria (n = 136), abnormalities were documented for 57 (41.9%); normal QT without other abnormality was documented for 18 (13.2%). The most common follow-up referrals were to pediatricians (16.9%) and cardiologists (10.3%). Among patients with clinically significant non-QT abnormalities mandating further evaluation (n = 122), 38 (31.1%) had documented follow-up in medical records. Conclusion There is a high prevalence of ECG abnormalities among children with congenital SNHL. If findings are confirmed by future studies, screening should be considered for congenital unilateral or bilateral SNHL, regardless of severity. We describe a

  13. Sensory interaction on static balance: a comparison concerning the history of falls of community-dwelling elderly.

    PubMed

    Ricci, Natalia Aquaroni; de Faria Figueiredo Gonçalves, Daniele; Coimbra, Arlete Maria Valente; Coimbra, Ibsen Bellini

    2009-06-01

    To determine whether elderly subjects with distinct histories of falls presented differences concerning the influence of sensory interaction on balance. Cross-sectional research. Ninety-six community-dwelling elderly subjects were divided into three groups, according to the history of falls within the past year (group 1, no falls; group 2, one fall; and group 3, recurrent falls). The Clinical Test of Sensory Interaction and Balance was used to evaluate the influence of sensory inputs on standing balance. The test required the subject to maintain stability during 30 s, under six conditions: (i) firm surface with eyes open; (ii) firm surface with eyes closed; (iii) firm surface with visual conflict; (iv) unstable surface with eyes open; (v) unstable surface with eyes closed; and (vi) unstable surface with visual conflict. The time expended on conditions and the number of abnormal cases were compared between groups. Each group was evaluated in relation to its performance in the progression of conditions. More abnormal cases occurred in group 3 compared to group 1 for conditions (iv) and (v); and compared to group 2 for condition (iv). Group 3 remained less time than group 1 under conditions (iv), (v) and (vi). Groups 1, 2 and 3 presented relevant decrements in trial duration from conditions (iv) to (v). For group 3, a significant decay was also noted from condition (i) to (ii). Sensorial interaction in the elderly varies according to their history of falls. Thus, it is possible to correctly guide the rehabilitation process and to prevent sensorial decays according to an individual's history of falls.

  14. CT of trauma to the abnormal kidney

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Rhyner, P.; Federle, M.P.; Jeffrey, R.B.

    Traumatic injuries to already abnormal kidneys are difficult to assess by excretory urography and clinical evaluation. Bleeding and urinary extravasation may accompany minor trauma; conversely, underlying tumors, perirenal hemorrhage, and extravasation may be missed on urography. Computed tomography (CT) was performed in eight cases including three neoplasms, one adult polycystic disease, one simple renal cyst, two hydronephrotic kidneys, and one horseshoe kidney. CT provided specific and clinically useful information in each case that was not apparent on excretory urography.

  15. Neural correlates of abnormal sensory discrimination in laryngeal dystonia.

    PubMed

    Termsarasab, Pichet; Ramdhani, Ritesh A; Battistella, Giovanni; Rubien-Thomas, Estee; Choy, Melissa; Farwell, Ian M; Velickovic, Miodrag; Blitzer, Andrew; Frucht, Steven J; Reilly, Richard B; Hutchinson, Michael; Ozelius, Laurie J; Simonyan, Kristina

    2016-01-01

    Aberrant sensory processing plays a fundamental role in the pathophysiology of dystonia; however, its underpinning neural mechanisms in relation to dystonia phenotype and genotype remain unclear. We examined temporal and spatial discrimination thresholds in patients with isolated laryngeal form of dystonia (LD), who exhibited different clinical phenotypes (adductor vs. abductor forms) and potentially different genotypes (sporadic vs. familial forms). We correlated our behavioral findings with the brain gray matter volume and functional activity during resting and symptomatic speech production. We found that temporal but not spatial discrimination was significantly altered across all forms of LD, with higher frequency of abnormalities seen in familial than sporadic patients. Common neural correlates of abnormal temporal discrimination across all forms were found with structural and functional changes in the middle frontal and primary somatosensory cortices. In addition, patients with familial LD had greater cerebellar involvement in processing of altered temporal discrimination, whereas sporadic LD patients had greater recruitment of the putamen and sensorimotor cortex. Based on the clinical phenotype, adductor form-specific correlations between abnormal discrimination and brain changes were found in the frontal cortex, whereas abductor form-specific correlations were observed in the cerebellum and putamen. Our behavioral and neuroimaging findings outline the relationship of abnormal sensory discrimination with the phenotype and genotype of isolated LD, suggesting the presence of potentially divergent pathophysiological pathways underlying different manifestations of this disorder.

  16. Ventricular Tacyhcardia in A Patient with A Previous History of Endocarditis and Ankylosan Spondylitis: A Challenging Case.

    PubMed

    Koza, Yavuzer; Taş, Muhammed Hakan; Şimşek, Ziya; Gündoğdu, Fuat

    2016-10-01

    Cardiac conduction defects are commonly observed in patients with ankylosing spondylitis, infective endocarditis, and aortic valve replacement. Each of these clinical situations can also present with ventricular tacyhcardia by different mechanisms. Here we report the case of a 53-year-old man with a medical history of untreated ankylosing spondylitis and aortic valve replacement who presented with ventricular tachycardia and underwent successful catheter ablation. Most ventricular tachycardia episodes were intermittent and drug resistant, which could have been caused by abnormal automaticity rather than re-entry.

  17. Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

    PubMed Central

    Maioli, Maria Christina Paixão; Soares, Andrea Ribeiro; Bedirian, Ricardo; Alves, Ursula David; de Lima Marinho, Cirlene; Lopes, Agnaldo José

    2015-01-01

    Objective To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. Methods Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All patients underwent pulmonary function tests, chest computed tomography, and echocardiography. Results Abnormalities on computed tomography, echocardiography, and pulmonary function tests were observed in 93.5%, 75.0%; and 70.2% of patients, respectively. A higher frequency of restrictive abnormalities was observed in patients with a history of acute chest syndrome (85% vs. 21.6%; p-value < 0.0001) and among patients with increased left ventricle size (48.2% vs. 22.2%; p-value = 0.036), and a higher frequency of reduced respiratory muscle strength was observed in patients with a ground-glass pattern (33.3% vs. 4.3%; p-value = 0.016). Moreover, a higher frequency of mosaic attenuation was observed in patients with elevated tricuspid regurgitation velocity (61.1% vs. 24%; p-value = 0.014). Compared to patients with other sickle cell diseases, sickle cell anemia patients had suffered increased frequencies of acute pain episodes, and acute chest syndrome, and exhibited mosaic attenuation on computed tomography, and abnormalities on echocardiography. Conclusion A significant interrelation between abnormalities of the pulmonary and cardiovascular systems was observed in sickle cell disease patients. Furthermore, the severity of the cardiopulmonary parameters among patients with sickle cell anemia was greater than that of patients with other sickle cell diseases. PMID:26969771

  18. Abnormal uterine bleeding in pre-menopausal women.

    PubMed

    Singh, Sukhbir; Best, Carolyn; Dunn, Sheila; Leyland, Nicholas; Wolfman, Wendy Lynn

    2013-05-01

    Abnormal uterine bleeding is the direct cause of a significant health care burden for women, their families, and society as a whole. Up to 30% of women will seek medical assistance for this problem during their reproductive years. This guideline replaces previous clinical guidelines on the topic and is aimed to enable health care providers with the tools to provide the latest evidence-based care in the diagnosis and the medical and surgical management of this common problem. To provide current evidence-based guidelines for the diagnosis and management of abnormal uterine bleeding (AUB) among women of reproductive age. Outcomes evaluated include the impact of AUB on quality of life and the results of interventions including medical and surgical management of AUB. Members of the guideline committee were selected on the basis of individual expertise to represent a range of practical and academic experience in terms of location in Canada, type of practice, subspecialty expertise, and general gynaecology background. The committee reviewed relevant evidence in the English medical literature including published guidelines. Recommendations were established as consensus statements. The final document was reviewed and approved by the Executive and Council of the SOGC. This document provides a summary of up-to-date evidence regarding diagnosis, investigations, and medical and surgical management of AUB. The resulting recommendations may be adapted by individual health care workers when serving women with this condition. Abnormal uterine bleeding is a common and sometimes debilitating condition in women of reproductive age. Standardization of related terminology, a systematic approach to diagnosis and investigation, and a step-wise approach to intervention is necessary. Treatment commencing with medical therapeutic modalities followed by the least invasive surgical modalities achieving results satisfactory to the patient is the ultimate goal of all therapeutic interventions

  19. Maternal Drug Abuse History, Maltreatment, and Functioning in a Clinical Sample of Urban Children

    ERIC Educational Resources Information Center

    Onigu-Otite, Edore C.; Belcher, Harolyn M. E.

    2012-01-01

    Objective: This study examined the association between maternal drug abuse history, maltreatment exposure, and functioning, in a clinical sample of young children seeking therapy for maltreatment. Methods: Data were collected on 91 children, mean age 5.3 years (SD 1.0). The Preschool and Early Childhood Functional Assessment Scales (PECFAS) was…

  20. The natural history of endometrial polyps.

    PubMed

    Wong, M; Crnobrnja, B; Liberale, V; Dharmarajah, K; Widschwendter, M; Jurkovic, D

    2017-02-01

    What is the natural history of endometrial polyps in women who are managed expectantly? The growth rates of expectantly managed polyps vary considerably and cannot be accurately predicted. The majority of polyps detected on ultrasound are treated surgically, and therefore little is known about their natural history. Some polyps have been reported to regress spontaneously without the need for treatment; however, the factors predictive of regression are unknown. This was a retrospective cohort study conducted at the Department of Gynaecology, University College London Hospitals. We searched our ultrasound clinic database between July 1997 and September 2015, to identify women aged 18 years or older with endometrial polyps that were managed expectantly for ≥6 months. All women attended for a minimum of two ultrasound scans. A single expert operator performed all ultrasound scans. Those with <6-month follow-up and those who were taking hormonal contraception, HRT or tamoxifen were excluded from the study. The mean diameter of each polyp was calculated from the measurements in three perpendicular planes. The polyp growth rate was expressed as annual percentage change in the mean diameter. Non-parametric tests and the Fisher's exact test were used to compare differences in polyp mean diameters and growth rates between women of different demographic characteristics. To correct for multiple significance testing, we used the Bonferroni method, giving the level of probability at which findings were considered significant as P < 0.0029 (as 17 tests were undertaken). We included 112 women with endometrial polyps, which were expectantly managed over a median period of 22.5 months (range, 6-136). The annual endometrial polyp growth rate varied with a median of 1.0% (interquartile range, -6.5 to 14.3). There was no association between women's demographic characteristics or polyps' morphology and their growth rates. Eleven out of 75 (15% (95% CI, 6.9%-23.1%)) women who initially

  1. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

    PubMed

    Krönauer, T; Friederich, P

    2015-08-01

    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  2. Clinical Outcomes and History of Fall in Patients with Atrial Fibrillation Treated with Oral Anticoagulation: Insights From the ARISTOTLE Trial.

    PubMed

    Rao, Meena P; Vinereanu, Dragos; Wojdyla, Daniel M; Alexander, John H; Atar, Dan; Hylek, Elaine M; Hanna, Michael; Wallentin, Lars; Lopes, Renato D; Gersh, Bernard J; Granger, Christopher B

    2018-03-01

    We assessed outcomes among anticoagulated patients with atrial fibrillation and a history of falling, and whether the benefits of apixaban vs warfarin are consistent in this population. Of the 18,201 patients in the Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) study, 16,491 had information about history of falling-753 with history of falling and 15,738 without history of falling. The primary efficacy outcome was stroke or systemic embolism; the primary safety outcome was major bleeding. When compared with patients without a history of falling, patients with a history of falling were older, more likely to be female and to have dementia, cerebrovascular disease, depression, diabetes, heart failure, osteoporosis, fractures, and higher CHA 2 DS 2 -VASc (Congestive heart failure, Hypertension, Age ≥75 years, Diabetes mellitus, prior Stroke or TIA or thromboembolism, Vascular disease, Age 65-74 years, Sex category female) and HAS-BLED (Hypertension, Abnormal renal and liver function, Stroke, Bleeding, Labile international normalized ratio, Elderly, Drugs or alcohol) scores. Patients with a history of falling had higher rates of major bleeding (adjusted hazard ratio [HR] 1.39; 95% confidence interval [CI], 1.05-1.84; P = .020), including intracranial bleeding (adjusted HR 1.87; 95% CI, 1.02-3.43; P = .044) and death (adjusted HR 1.70; 95% CI, 1.36-2.14; P < .0001), but similar rates of stroke or systemic embolism and hemorrhagic stroke. There was no evidence of a differential effect of apixaban compared with warfarin on any outcome, regardless of history of falling. Among those with a history of falling, subdural bleeding occurred in 5 of 367 patients treated with warfarin and 0 of 386 treated with apixaban. Patients with atrial fibrillation and a history of falling receiving anticoagulation have a higher risk of major bleeding, including intracranial, and death. The efficacy and safety of apixaban compared

  3. Feeling Abnormal: Simulation of Deviancy in Abnormal and Exceptionality Courses.

    ERIC Educational Resources Information Center

    Fernald, Charles D.

    1980-01-01

    Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…

  4. Morphometric brain abnormalities in boys with conduct disorder.

    PubMed

    Huebner, Thomas; Vloet, Timo D; Marx, Ivo; Konrad, Kerstin; Fink, Gereon R; Herpertz, Sabine C; Herpertz-Dahlmann, Beate

    2008-05-01

    Children with the early-onset type of conduct disorder (CD) are at high risk for developing an antisocial personality disorder. Although there have been several neuroimaging studies on morphometric differences in adults with antisocial personality disorder, little is known about structural brain aberrations in boys with CD. Magnetic resonance imaging and voxel-based morphometry were used to assess abnormalities in gray matter volumes in 23 boys ages 12 to 17 years with CD (17 comorbid for attention-deficit/hyperactivity disorder) in comparison with age- and IQ-matched controls. Compared with healthy controls, mean gray matter volume was 6% smaller in the clinical group. Compared with controls, reduced gray matter volumes were found in the left orbitofrontal region and bilaterally in the temporal lobes, including the amygdala and hippocampus on the left side in the CD group. Regression analyses in the clinical group indicated an inverse association of hyperactive/impulsive symptoms and widespread gray matter abnormalities in the frontoparietal and temporal cortices. By contrast, CD symptoms correlated primarily with gray matter reductions in limbic brain structures. The data suggest that boys with CD and comorbid attention-deficit/hyperactivity disorder show brain abnormalities in frontolimbic areas that resemble structural brain deficits, which are typically observed in adults with antisocial behavior.

  5. Abnormal Uterine Bleeding

    MedlinePlus

    ... abnormal uterine bleeding? Abnormal uterine bleeding is any heavy or unusual bleeding from the uterus (through your ... one symptom of abnormal uterine bleeding. Having extremely heavy bleeding during your period can also be considered ...

  6. Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

    PubMed

    Pierson, T M; Nezhad, Mani; Tremblay, Matthew A; Lewis, Richard; Wong, Derek; Salamon, Noriko; Sicotte, Nancy

    2015-10-01

    A 55-year-old female presented with a 6-year history of paresthesias, incontinence, spasticity, and gait abnormalities. Neuroimaging revealed white matter abnormalities associated with subependymal nodules. Biochemical evaluation noted increased serum C5-DC glutarylcarnitines and urine glutaric and 3-hydroxyglutaric acids. Evaluation of the glutaryl-CoA dehydrogenase (GCDH) gene revealed compound heterozygosity consisting of a novel variant (c.1219C>G; p.Leu407Val) and pathogenic mutation (c.848delT; p.L283fs). Together, these results were consistent with a diagnosis of adult-onset type I glutaric aciduria.

  7. Migraine patients consistently show abnormal vestibular bedside tests.

    PubMed

    Maranhão, Eliana Teixeira; Maranhão-Filho, Péricles; Luiz, Ronir Raggio; Vincent, Maurice Borges

    2016-01-01

    Migraine and vertigo are common disorders, with lifetime prevalences of 16% and 7% respectively, and co-morbidity around 3.2%. Vestibular syndromes and dizziness occur more frequently in migraine patients. We investigated bedside clinical signs indicative of vestibular dysfunction in migraineurs. To test the hypothesis that vestibulo-ocular reflex, vestibulo-spinal reflex and fall risk (FR) responses as measured by 14 bedside tests are abnormal in migraineurs without vertigo, as compared with controls. Cross-sectional study including sixty individuals - thirty migraineurs, 25 women, 19-60 y-o; and 30 gender/age healthy paired controls. Migraineurs showed a tendency to perform worse in almost all tests, albeit only the Romberg tandem test was statistically different from controls. A combination of four abnormal tests better discriminated the two groups (93.3% specificity). Migraine patients consistently showed abnormal vestibular bedside tests when compared with controls.

  8. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

    PubMed

    Rosa, Rafael Fabiano Machado; Silva, Alessandra Pawelec da; Goetze, Thayse Bienert; Bier, Bianca de Almeida; Almeida, Sheila Tamanini de; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo Gazzola

    2011-01-01

    Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. To investigate the ear abnormalities of a sample of patients with OAVS. The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n = 12), middle (n = 10) and inner ear (n = 3). Microtia was the most frequent finding (n = 12). The most common abnormalities of the middle ear were: opacification (n = 2), displacement (n = 2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n = 2) was the most frequent alteration of the inner ear. Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.

  9. Congenital hypothyroidism in a kitten resulting in decreased IGF-I concentration and abnormal liver function tests.

    PubMed

    Quante, Saskia; Fracassi, Federico; Gorgas, Daniela; Kircher, Patrick R; Boretti, Felicitas S; Ohlerth, Stefanie; Reusch, Claudia E

    2010-06-01

    A 7-month-old male kitten was presented with chronic constipation and retarded growth. Clinical examination revealed disproportional dwarfism with mild skeletal abnormalities and a palpable thyroid gland. The presumptive diagnosis of congenital hypothyroidism was confirmed by low serum total thyroxine (tT(4)) concentration prior to and after the administration of thyroid stimulation hormone (TSH), increased endogenous TSH concentration and abnormal thyroid scintigraphic scan. The kitten had abnormal liver function tests and decreased insulin-like growth factor 1 (IGF-1) concentration, both of which returned to normal in correspondence with an improvement of the clinical signs after 6 weeks of thyroxine therapy. Congenital hypothyroidism is a rare disease that may present with considerable variation in clinical manifestation. In cases in which clinical signs are ambiguous, disorders such as portosystemic shunt and hyposomatotropism have to be taken into account as differential diagnosis. As hypothyroidism may be associated with abnormal liver function tests and low IGF-1 concentrations, test results have to be interpreted carefully. Copyright 2010 ISFM and AAFP. Published by Elsevier Ltd. All rights reserved.

  10. Do clinical data and human papilloma virus genotype influence spontaneous regression in grade I cervical intraepithelial neoplasia?

    PubMed

    Cortés-Alaguero, Caterina; González-Mirasol, Esteban; Morales-Roselló, José; Poblet-Martinez, Enrique

    2017-03-15

    To determine whether medical history, clinical examination and human papilloma virus (HPV) genotype influence spontaneous regression in cervical intraepithelial neoplasia grade I (CIN-I). We retrospectively evaluated 232 women who were histologically diagnosed as have CIN-I by means of Kaplan-Meier curves, the pattern of spontaneous regression according to the medical history, clinical examination, and HPV genotype. Spontaneous regression occurred in most patients and was influenced by the presence of multiple HPV genotypes but not by the HPV genotype itself. In addition, regression frequency was diminished when more than 50% of the cervix surface was affected or when an abnormal cytology was present at the beginning of follow-up. The frequency of regression in CIN-I is high, making long-term follow-up and conservative management advisable. Data from clinical examination and HPV genotyping might help to anticipate which lesions will regress.

  11. The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations.

    PubMed

    Mordekar, S R; Guthrie, P; Bonham, J R; Olpin, S E; Hargreaves, I; Baxter, P S

    2006-03-01

    Mitochondrial diseases are an important group of neurometabolic disorders in children with varied clinical presentations and diagnosis that can be difficult to confirm. To report the significance of reduced respiratory chain enzyme (RCE) activity in muscle biopsy samples from children. Retrospective odds ratio was used to compare clinical and biochemical features, DNA studies, neuroimaging, and muscle biopsies in 18 children with and 48 without reduced RCE activity. Children with reduced RCE activity were significantly more likely to have consanguineous parents, to present with acute encephalopathy and lactic acidaemia and/or within the first year of life; to have an axonal neuropathy, CSF lactate >4 mmol/l; and/or to have signal change in the basal ganglia. There were positive associations with a maternal family history of possible mitochondrial cytopathy; a presentation with failure to thrive and lactic acidaemia, ragged red fibres, reduced fibroblast fatty acid oxidation and with an abnormal allopurinol loading test. There was no association with ophthalmic abnormalities, deafness, epilepsy or myopathy. The association of these clinical, biochemical and radiological features with reduced RCE activity suggests a possible causative link.

  12. Derivation and Validation of Predictive Factors for Clinical Deterioration after Admission in Emergency Department Patients Presenting with Abnormal Vital Signs Without Shock

    PubMed Central

    Henning, Daniel J.; Oedorf, Kimie; Day, Danielle E.; Redfield, Colby S.; Huguenel, Colin J.; Roberts, Jonathan C.; Sanchez, Leon D.; Wolfe, Richard E.; Shapiro, Nathan I.

    2015-01-01

    Introduction Strategies to identify high-risk emergency department (ED) patients often use markedly abnormal vital signs and serum lactate levels. Risk stratifying such patients without using the presence of shock is challenging. The objective of the study is to identify independent predictors of in-hospital adverse outcomes in ED patients with abnormal vital signs or lactate levels, but who are not in shock. Methods We performed a prospective observational study of patients with abnormal vital signs or lactate level defined as heart rate ≥130 beats/min, respiratory rate ≥24 breaths/min, shock index ≥1, systolic blood pressure <90mm/Hg, or lactate ≥4mmole/L. We excluded patients with isolated atrial tachycardia, seizure, intoxication, psychiatric agitation, or tachycardia due to pain (ie: extremity fracture). The primary outcome was deterioration, defined as development of acute renal failure (creatinine 2× baseline), non-elective intubation, vasopressor requirement, or mortality. Independent predictors of deterioration after hospitalization were determined using logistic regression. Results Of 1,152 consecutive patients identified with abnormal vital signs or lactate level, 620 were excluded, leaving 532 for analysis. Of these, 53/532 (9.9±2.5%) deteriorated after hospital admission. Independent predictors of in-hospital deterioration were: lactate >4.0mmol/L (OR 5.1, 95% CI [2.1–12.2]), age ≥80 yrs (OR 1.9, CI [1.0–3.7]), bicarbonate <21mEq/L (OR 2.5, CI [1.3–4.9]), and initial HR≥130 (OR 3.1, CI [1.5–6.1]). Conclusion Patients exhibiting abnormal vital signs or elevated lactate levels without shock had significant rates of deterioration after hospitalization. ED clinical data predicted patients who suffered adverse outcomes with reasonable reliability. PMID:26759655

  13. Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia.

    PubMed

    Rohrer, Jonathan D; Warren, Jason D; Rossor, Martin N

    2009-09-15

    We describe ten patients with a clinical diagnosis of primary progressive aphasia (PPA) (pathologically confirmed in three cases) who developed abnormal laughter-like vocalisations in the context of progressive speech output impairment leading to mutism. Failure of speech output was accompanied by increasing frequency of the abnormal vocalisations until ultimately they constituted the patient's only extended utterance. The laughter-like vocalisations did not show contextual sensitivity but occurred as an automatic vocal output that replaced speech. Acoustic analysis of the vocalisations in two patients revealed abnormal motor features including variable note duration and inter-note interval, loss of temporal symmetry of laugh notes and loss of the normal decrescendo. Abnormal laughter-like vocalisations may be a hallmark of a subgroup in the PPA spectrum with impaired control and production of nonverbal vocal behaviour due to disruption of fronto-temporal networks mediating vocalisation.

  14. Clinical findings and electrodiagnostic testing in 108 consecutive cases of lumbosacral radiculopathy due to herniated disc.

    PubMed

    Mondelli, M; Aretini, A; Arrigucci, U; Ginanneschi, F; Greco, G; Sicurelli, F

    2013-10-01

    This prospective study aim to examine whether clinical findings and electrodiagnostic testing (EDX) in patients with lumbosacral monoradiculopathy due to herniated disc (HD) differ as a function of root involvement level (L5 vs. S1) and HD zone (paramedian vs. intraforaminal). All patients with L4, L5 or S1 monoradiculopathy were prospectively enrolled at four electromyography (EMG) labs over a 2-year period. The diagnosis was based on a congruence between patient history and MRI evidence of HD. We compared the sensitivities of clinical findings and EDX with respect to both root involvement level and HD zone. Multivariate logistic regression was performed in order to verify the association between abnormal EMG, clinical, and neuroradiological findings. One hundred and eight patients (mean age 47.7 years, 55% men) were consecutively enrolled. Sensory loss in the painful dermatome was the most frequent finding at physical examination (56% of cases). EMG was abnormal in at least one muscle supplied by femoral and sciatic nerves in 45 cases (42%). Inclusion of paraspinal muscles increased sensitivity to only 49% and that of proximal muscles was useless. Motor and sensory neurography was seldom abnormal. The most frequent motor neurographic abnormalities were a delay of F-wave minimum latency and decrease in the compound muscle action potential amplitude from extensor digitorum brevis and abductor hallucis in L5 and S1 radiculopathies, respectively. Sensory neurography was usually normal, the amplitude of sensory nerve action potential was seldom reduced when HD injured dorsal root ganglion or postganglionic root fibres. Multivariate logistic regression analysis showed that EMG abnormalities could be predicted by myotomal muscular weakness, abnormal deep reflexes, and paraesthesiae. The only clinical and electrophysiological differences with respect to root involvement level concerned deep reflexes and motor neurography of deep peroneal and tibial nerves. Only some EDX

  15. Cardiovascular risk factors in Chinese women with a history of gestational diabetes mellitus.

    PubMed

    Mai, Caiyuan; Hou, Minming; Chen, Rong; Duan, Dongmei; Xu, Huikun; Lin, Xiaohong; Wen, Jiying; Lv, Lijuan; Lei, Qiong; Niu, Jianmin

    2015-01-01

    Women with a history of gestational diabetes (GDM) are at increased risk of developing cardiovascular diseases compared with normal women. This study aimed to evaluate the cardiovascular risk factors in Chinese women with GDM. 453 women with GDM (cases) and 1,180 healthy women (controls) were included in this study. The post-partum examinations included 2 h 75 g oral glucose tolerance tests, lipid profiles, anthropometric measurements (blood pressure, height, weight) and documentation of medical history, diet, and lifestyle. Compared with controls, the risks of abnormal glucose metabolism, obesity, hypertension, metabolic syndrome in women with a history of GDM were 4.61, 1.30, 1.57 and 3.52, respectively. Fasting blood glucose, progestational body mass index (pBMI) and antenatal insulin resistance at antenatal visit were predictors for abnormal glucose metabolism. pBMI and antenatal diastolic blood pressure were predictors for hypertension. pBMI and weight gain during pregnancy were predictors for obesity/overweight. pBMI, antenatal systolic blood pressure and antenatal triglyceride were predictors for metabolic syndrome. Women with a history of GDM have increased rates of cardiovascular disease risk factors including abnormal glucose metabolism, obesity, hypertension, metabolic syndrome. pBMI is the common independent predictors of cardiometabolic disease in the post-partum.

  16. Effect of Patient Navigation on Time to Diagnostic Resolution among Patients with Colorectal Cancer Related Abnormalities

    PubMed Central

    Lee, Ji-Hyun; Fulp, William; Wells, Kristen J.; Meade, Cathy D.; Calcano, Ercilia; Roetzheim, Richard

    2013-01-01

    Objectives The objective of this study is to evaluate whether a patient navigation (PN) program is effective in reducing delay in diagnostic resolution among medically underserved patients with colorectal cancer (CRC) related abnormalities in Tampa Bay, Florida. Methods This study involved 10 primary care clinics randomized either to receive navigation or serve as controls (5 clinics per arm). Each clinic identified all subjects with colorectal-related abnormalities in the year prior to the clinic beginning participation in the Moffitt Patient Navigation Research Program. Patients with CRC related abnormalities were navigated from time of a colorectal abnormality to diagnostic resolution. Control patients received usual care, and outcome information was obtained from medical record abstraction. Using a frailty Cox proportional hazard model, we examined the length of time between colorectal abnormality and definitive diagnosis. Results 193 patients were eligible for the study because of a colorectal cancer related abnormality (75 navigated; 118 control). Analysis of PN effect by two time periods of resolution (0-4 months and > 4 months) showed a lagged effect of PN. The adjusted time-varying PN effect on diagnostic resolution compared to control was marginally significant (adjusted Hazard Ratio, aHR=1.15, 95% CI: 1.02-1.29) after controlling for insurance status. The predicted aHR at 4 months was 1.2, but showed no significant effect until 12 months. Conclusions For patients having an abnormal symptom of CRC, PN appeared to have a positive effect over time and sped diagnostic resolution after 4 months. However, the small sample size limits drawing a definitive conclusion regarding the positive PN effect. PMID:24113902

  17. Cluster analysis of the clinical histories of cattle affected with bovine anaemia associated with Theileria orientalis Ikeda type infection.

    PubMed

    Lawrence, K E; Forsyth, S F; Vaatstra, B L; McFadden, Amj; Pulford, D J; Govindaraju, K; Pomroy, W E

    2017-11-01

    AIM To determine the most commonly used words in the clinical histories of animals naturally infected with Theileria orientalis Ikeda type; whether these words differed between cases categorised by age, farm type or haematocrit (HCT), and if there was any clustering of the common words in relation to these categories. METHODS Clinical histories were transcribed for 605 cases of bovine anaemia associated with T. orientalis (TABA), that were submitted to laboratories with blood samples which tested positive for T. orientalis Ikeda type infection by PCR analysis, between October 2012 and November 2014. χ 2 tests were used to determine whether the proportion of submissions for each word was similar across the categories of HCT (normal, moderate anaemia or severe anaemia), farm type (dairy or beef) and age (young or old). Correspondence analysis (CA) was carried out on a contingency table of the frequency of the 28 most commonly used history words, cross-tabulated by age categories (young, old or unknown). Agglomerative hierarchical clustering, using Ward's method, was then performed on the coordinates from the correspondence analysis. RESULTS The six most commonly used history words were jaundice (204/605), lethargic (162/605), pale mucous membranes (161/605), cow (151/605), anaemia (147/605), and off milk (115/605). The proportion of cases with some history words differed between categories of age, farm type and HCT. The cluster analysis indicated that the recorded history words were grouped in two main clusters. The first included the words weight loss, tachycardia, pale mucous membranes, anaemia, lethargic and thin, and was associated with adult (p<0.001), severe anaemia (p<0.001) and dairy (p<0.001). The second cluster included the words deaths, ill-thrift, calves, calf and diarrhoea, and was associated with young (p<0.001), normal HCT (p<0.001), beef (p<0.001) and moderate anaemia (p<0.001). CONCLUSIONS AND CLINICAL RELEVANCE Cluster analysis of words recorded in

  18. The nature of neuroendocrine abnormalities in depression: a controversial issue in contemporary psychiatry.

    PubMed

    von Zerssen, D; Berger, M; Dose, M; Doerr, P; Krieg, C; Bossert, S; Riemann, D; Pirke, K M; Dolhofer, R; Müller, O A

    1986-01-01

    Neuroendocrine abnormalities in depression have been regarded, by many authors, as relatively specific markers of nosological subtypes of the disorder, e.g. primary vs. secondary, endogenous vs. non-endogenous or unipolar vs. bipolar depression. They should reflect the same changes in central neurotransmitters (e.g. noradrenergic insufficiency and/or cholinergic hyperactivity) that were hypothesized as the cause of clinical symptoms. This view is challenged on the basis of our own neuroendocrine investigations in 317 psychiatric patients and 103 normal controls. According to these studies the abnormalities are nosologically rather unspecific. They are induced by a large variety of factors, e.g. emotional stress associated with the clinical symptomatology, weight loss due to malnutrition as a consequence of reduced appetite, medication and drug withdrawal. Stress-induced hypercortisolism appears to be the most common abnormality that may trigger other neuroendocrine dysfunctions, such as a blunted TSH response to TRH. Differences in neuroendocrine abnormalities of depressives are probably due to variations in the manifold factors influencing the hormonal axes involved, to temporal changes in hormonal patterns (e.g. one abnormality triggering another) and to individual differences in the basic activity and the responsiveness of the various axes.

  19. MRI of normal and abnormal duodenum using Half-Fourier Single-Shot RARE and gadolinium-enhanced spoiled gradient echo sequences.

    PubMed

    Marcos, H B; Semelka, R C; Noone, T C; Woosley, J T; Lee, J K

    1999-07-01

    The objective of this research was two-fold: First, to describe the normal and abnormal MR appearances of the duodenum using combined Half-Fourier Acquisition Single Shot RARE (HASTE) and gadolinium-enhanced standard and fat suppressed spoiled gradient echo (SGE) sequences. The second objective was to assess the ability of these combined sequences to detect and characterize duodenal diseases. MR examinations were performed on fifty consecutive patients with no clinical history of duodenal diseases, who were 1) imaged with HASTE and gadolinium-enhanced standard and fat suppressed SGE sequences and 2) referred to MR examination for reasons other than duodenal diseases, and were reviewed retrospectively to determine the normal MR appearances of the duodenum. A second population of patients with abnormal duodenum who were imaged with the same MR sequences were included in the second part of this study. This population was composed of 20 consecutive patients with subsequently proven duodenal abnormalities, including: malrotation (2), diverticula (4), intussusception (1), sprue (1), polyps (2), neurofibroma (1), lymphoma (1), Zollinger Ellison syndrome (1), metastatic disease (1), Crohn's disease (1), and wall thickening and duodenitis (5). Normal measurements of the duodenum are described. Abnormalities of wall thickness and duodenal masses required combined HASTE and gadolinium-enhanced SGE images to evaluate well. Abnormalities of the bowel lumen (e.g., diverticula and intussusception), and developmental variants (e.g., malrotation), were sufficiently visualized on HASTE images alone. Bowel inflammation was best shown on gadolinium-enhanced fat suppressed SGE images. HASTE and gadolinium-enhanced fat suppressed SGE sequences are complementary techniques for the demonstration of normal and abnormal duodenum. The combined use of both sequences allows evaluation of different aspects of bowel diseases; abnormalities of position, lumen, and contents are well shown on HASTE

  20. Neurological abnormalities in localized scleroderma of the face and head: a case series study for evaluation of imaging findings and clinical course.

    PubMed

    Lis-Święty, Anna; Brzezińska-Wcisło, Ligia; Arasiewicz, Hubert

    2017-09-01

    Localized scleroderma (LoS) of the face and head is often associated with neurological manifestations and/or imaging abnormalities in the central nervous system (CNS). We present an analysis of 20 cases of LoS affecting the face and head. The CNS symptoms and/or abnormalities in high-resolution computed tomography (HRCT) and/or magnetic resonance imaging (MRI) were observed in 12 patients (60%). In addition to the mild and unspecific disorders (e.g. headaches), serious neurological complications probably in the course of vasculitis were revealed: epilepsy (in two patients), epilepsy and pyramidal sings (in one patient). Neurological disorders and LoS occurred at the same time (in three patients) or at the course of the disease (nine patients) and no later than 29 years since the onset of the disease. No link between neurological disorders and the LoS clinical morphology, immunological and other laboratory parameters has been established. CNS involvement is not correlated with the clinical course of the facial and head LoS and may occur years after the disease initial symptomatology. Imaging follow-up is not required if there is not any emerging neurological symptom. In some cases, however, both HRCT and MRI are useful for monitoring disease evolution and addressing therapeutic choices.

  1. KISTI at TREC 2014 Clinical Decision Support Track: Concept-based Document Re-ranking to Biomedical Information Retrieval

    DTIC Science & Technology

    2014-11-01

    sematic type. Injury or Poisoning inpo T037 Anatomical Abnormality anab T190 Given a document D, a concept vector = {1, 2, … , ...integrating biomedical terminology . Nucleic acids research 32, Database issue (2004), 267–270. 5. Chapman, W.W., Hillert, D., Velupillai, S., et...Conference (TREC), (2011). 9. Koopman, B. and Zuccon, G. Understanding negation and family history to improve clinical information retrieval. Proceedings

  2. The clinical content of preconception care: reproductive history.

    PubMed

    Stubblefield, Phillip G; Coonrod, Dean V; Reddy, Uma M; Sayegh, Raja; Nicholson, Wanda; Rychlik, Daniel F; Jack, Brian W

    2008-12-01

    A history of previous birth of a low birthweight infant, previous cesarean sections, multiple previous spontaneous abortions, prior stillbirth, or uterine anomaly identifies women at increased risk for recurrent abortion, preterm birth, or stillbirth. We review the evidence for the potential benefit of reproductive history in identifying strategies for evaluation and treatment to prevent recurrent adverse pregnancy outcome. We offer evidence-based recommendations for management of women with these histories.

  3. Life histories in occupational therapy clinical practice.

    PubMed

    Frank, G

    1996-04-01

    This article defines and compares several narrative methods used to describe and interpret patients' lives. The biographical methods presented are case histories, life-charts, life histories, life stories, assisted autobiography, hermeneutic case reconstruction, therapeutic employment, volitional narratives, and occupational storytelling and story making. Emphasis is placed the clinician as a collaborator and interpreter of the patient's life through ongoing interactions and dialogue.

  4. Symptomatic benign pleural effusions among asbestos insulation workers: residual radiographic abnormalities.

    PubMed Central

    Lilis, R; Lerman, Y; Selikoff, I J

    1988-01-01

    During a cross sectional medical survey of 2815 insulation workers with 30 years or more from onset of asbestos exposure conducted from 1981 to 1983, a positive history of benign pleural effusion was found in 20 (0.71%). Two or three such episodes had occurred in four of these 20 subjects. The chest x ray abnormalities in these cases were characterised by pleural fibrosis in 19 and diffuse pleural fibrosis with blunting of the corresponding costophrenic angle in 16. In the total group of 2815 insulation workers diffuse pleural fibrosis was found in 142 (5.0%). Thus diffuse pleural fibrosis with blunting of the corresponding costophrenic angle is a frequent residual abnormality after benign pleural effusion. Its impact on pulmonary function can be pronounced. Images PMID:3260799

  5. Oculomotor abnormalities in children with Niemann-Pick type C.

    PubMed

    Blundell, James; Frisson, Steven; Chakrapani, Anupam; Gissen, Paul; Hendriksz, Chris; Vijay, Suresh; Olson, Andrew

    2018-02-01

    Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities). Saccade onset latency, saccade peak velocity and saccade curvature were compared to healthy controls (N=77). NP-C patients had selective impairments of vertical saccade peak velocity and vertical saccade curvature, with slower peak velocities and greater curvature. Changes were more pronounced in neurological than pre-neurological patients, showing that these measures are sensitive to disease progress, but abnormal curvature and slowed downward saccades were present in both groups, showing that eye-tracking can register disease-related changes before these are evident in a clinical exam. Both slowing, curvature and the detailed characteristics of the curvature we observed are predicted by the detailed characteristics of RIMLF population codes. Onset latencies were not different from healthy controls. High-resolution video-based eye tracking is a promising sensitive and objective method to measure NP-C disease severity and neurological onset. It may also help evaluate responses to therapeutic interventions. Copyright © 2017. Published by Elsevier Inc.

  6. Abnormal glucose tolerance post-gestational diabetes mellitus as defined by the International Association of Diabetes and Pregnancy Study Groups criteria.

    PubMed

    Noctor, Eoin; Crowe, Catherine; Carmody, Louise A; Saunders, Jean A; Kirwan, Breda; O'Dea, Angela; Gillespie, Paddy; Glynn, Liam G; McGuire, Brian E; O'Neill, Ciarán; O'Shea, P M; Dunne, F P

    2016-10-01

    An increase in gestational diabetes mellitus (GDM) prevalence has been demonstrated across many countries with adoption of the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) diagnostic criteria. Here, we determine the cumulative incidence of abnormal glucose tolerance among women with previous GDM, and identify clinical risk factors predicting this. Two hundred and seventy women with previous IADPSG-defined GDM were prospectively followed up for 5years (mean 2.6) post-index pregnancy, and compared with 388 women with normal glucose tolerance (NGT) in pregnancy. Cumulative incidence of abnormal glucose tolerance (using American Diabetes Association criteria for impaired fasting glucose, impaired glucose tolerance and diabetes) was determined using the Kaplan-Meier method of survival analysis. Cox regression models were constructed to test for factors predicting abnormal glucose tolerance. Twenty-six percent of women with previous GDM had abnormal glucose tolerance vs 4% with NGT, with the log-rank test demonstrating significantly different survival curves (P<0.001). Women meeting IADPSG, but not the World Health Organization (WHO) 1999 criteria, had a lower cumulative incidence than women meeting both sets of criteria, both in the early post-partum period (4.2% vs 21.7%, P<0.001) and at longer-term follow-up (13.7% vs 32.6%, P<0.001). Predictive factors were glucose levels on the pregnancy oral glucose tolerance test, family history of diabetes, gestational week at testing, and BMI at follow-up. The proportion of women developing abnormal glucose tolerance remains high among those with IADPSG-defined GDM. This demonstrates the need for continued close follow-up, although the optimal frequency and method needs further study. © 2016 European Society of Endocrinology.

  7. Exploration of microstructural abnormalities in borderline personality disorder

    NASA Astrophysics Data System (ADS)

    Fritzsche, Klaus H.; Brunner, Romuald; Henze, Romy; Meinzer, Hans-Peter; Stieltjes, Bram

    2012-03-01

    As with other mental disorders, the causes of borderline personality disorder (BPD) are complex and not fully understood. In this study we aimed to determine whether adults with BPD exhibit microstructural abnormalities using diffusion tensor imaging (DTI). 56 female right-handed individuals (age range, 14-18 years), 19 with a DSM-IV diagnosis of BPD, 18 patients with a DSM-IV defined current psychiatric disorder and 19 healthy control subjects were included. Groups were matched for age and IQ. DTI Images were analyzed using Tract-Based Spatial Statistics (TBSS). The analysis revealed significanty reduced fractional anisotropy (FA) values in the group of BPD patients compared to the normal controls. Similar FA reductions could not be found comparing BPD patients to clinical controls. Several clusters of increased radial (DR), axial (DA), and mean (MD) diffusivity were consistently identified when comparing the BPD patients to clinical as well as to healthy controls. None of the measures showed significant differences between the clinical and healthy controls. Diverse possible factors have been suggested to play a role in the disease, including environmental factors, neurobiological factors, or brain abnormalities. The presented results may play an important role in this ongoing debate.

  8. Clinical and surgical correlation of hip MR arthrographic findings in adolescents.

    PubMed

    Jawahar, Anugayathri; Vade, Aruna; Lomasney, Laurie; Okur, Gokcan; Evans, Douglas; Subbaiah, Perla

    2016-06-01

    The purpose of this study was to analyze the utility of MRA-H in adolescents by comparing the results of imaging with surgical findings and/or clinical outcome. After obtaining appropriate IRB approval, the Radiologic Information System database was queried for all patients 13-18 years of age who underwent MRA-H from 2004 through 2013. The electronic medical record was reviewed for clinical history, clinical examination findings, and operative notes. MRA-H images were reviewed for soft tissue abnormalities (labral tear, paralabral ganglion, articular cartilage loss, synovitis, ligament tears) and bony abnormalities (cam-type femoroacetabular impingement (FAI), pincer-type FAI, hip dysplasia). MRA-H findings were correlated with surgical findings and with clinical outcomes. Twenty-six patients with labral tears by MRA-H were included in study and grouped as follows: Group I) patients who underwent surgical management (n=10); group II) patients managed non-surgically (medication, intra-articular injection, physical therapy) (n=9); group III) patients lost to follow up after being advised to have surgery (n=7). With regard to presenting symptomatology, 87.5% of patients with labral tear had groin pain. Of those patients who were diagnosed with a labral tear, 52% were categorized as idiopathic labral tears, 26% as secondary tears (secondary to abnormal bony morphology), and 22% as traumatic labral tears. The labral tears were found to be anterior in 61% and posterior in 22%. Associated articular cartilage lesions were found in 29% of patients. In group I (surgical patients), MRA-H labral findings were confirmed at surgery in 9/10. Seventy percent of labral tears in our study had some form of abnormal bony morphology. Nine of the 12 patients with bone abnormalities were derived from group I patients. Six out of 7 patients with cam-type FAI had a labral tear. Labral tears diagnosed by MRA-H in the adolescent population correlated well with clinical examination and

  9. [Normal and abnormal skin color].

    PubMed

    Ortonne, J-P

    2012-11-01

    The varieties of normal skin color in humans range from people of "no color" (pale white) to "people of color" (light brown, dark brown, and black). Skin color is a blend resulting from the skin chromophores red (oxyhaemoglobin), blue (deoxygenated haemoglobin), yellow-orange (carotene, an exogenous pigment), and brown (melanin). Melanin, however, is the major component of skin color ; it is the presence or absence of melanin in the melanosomes in melanocytes and melanin in keratinocytes that is responsible for epidermal pigmentation, and the presence of melanin in macrophages or melanocytes in the dermis that is responsible for dermal pigmentation. Two groups of pigmentary disorders are commonly distinguished: the disorders of the quantitative and qualitative distribution of normal pigment and the abnormal presence of exogenous or endogenous pigments in the skin. The first group includes hyperpigmentations, which clinically manifest by darkening of the skin color, and leukodermia, which is characterized by lightening of the skin. Hypermelanosis corresponds to an overload of melanin or an abnormal distribution of melanin in the skin. Depending on the color, melanodermia (brown/black) and ceruloderma (blue/grey) are distinguished. Melanodermia correspond to epidermal hypermelanocytosis (an increased number of melanocytes) or epidermal hypermelanosis (an increase in the quantity of melanin in the epidermis with no modification of the number of melanocytes). Ceruloderma correspond to dermal hypermelanocytosis (abnormal presence in the dermis of cells synthesizing melanins) ; leakage in the dermis of epidermal melanin also exists, a form of dermal hypermelanosis called pigmentary incontinence. Finally, dyschromia can be related to the abnormal presence in the skin of a pigment of exogenous or endogenous origin. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  10. Abnormal Uterine Bleeding.

    PubMed

    Benetti-Pinto, Cristina Laguna; Rosa-E-Silva, Ana Carolina Japur de Sá; Yela, Daniela Angerame; Soares Júnior, José Maria

    2017-07-01

    Abnormal uterine bleeding is a frequent condition in Gynecology. It may impact physical, emotional sexual and professional aspects of the lives of women, impairing their quality of life. In cases of acute and severe bleeding, women may need urgent treatment with volumetric replacement and prescription of hemostatic substances. In some specific cases with more intense and prolonged bleeding, surgical treatment may be necessary. The objective of this chapter is to describe the main evidence on the treatment of women with abnormal uterine bleeding, both acute and chronic. Didactically, the treatment options were based on the current International Federation of Gynecology and Obstetrics (FIGO) classification system (PALM-COEIN). The etiologies of PALM-COEIN are: uterine Polyp (P), Adenomyosis (A), Leiomyoma (L), precursor and Malignant lesions of the uterine body (M), Coagulopathies (C), Ovulatory dysfunction (O), Endometrial dysfunction (E), Iatrogenic (I), and Not yet classified (N). The articles were selected according to the recommendation grades of the PubMed, Cochrane and Embase databases, and those in which the main objective was the reduction of uterine menstrual bleeding were included. Only studies written in English were included. All editorial or complete papers that were not consistent with abnormal uterine bleeding, or studies in animal models, were excluded. The main objective of the treatment is the reduction of menstrual flow and morbidity and the improvement of quality of life. It is important to emphasize that the treatment in the acute phase aims to hemodynamically stabilize the patient and stop excessive bleeding, while the treatment in the chronic phase is based on correcting menstrual dysfunction according to its etiology and clinical manifestations. The treatment may be surgical or pharmacological, and the latter is based mainly on hormonal therapy, anti-inflammatory drugs and antifibrinolytics. Thieme Revinter Publicações Ltda Rio de Janeiro

  11. The Left-Handed: "Their Sinister" History.

    ERIC Educational Resources Information Center

    Costas, Elaine Fowler

    The history of left-handedness can provide teachers and parents a better understanding of left-handed children and give those children more pride in their difference. No child should be made to feel that he or she is abnormal because of using the left hand, although some specific instruction for these students is necessary in handwriting. Many…

  12. A 16-year-old girl with anti-NMDA-receptor encephalitis and family history of psychotic disorders.

    PubMed

    Cleland, Neil; Lieblich, Samuel; Schalling, Martin; Rahm, Christoffer

    2015-12-01

    Autoimmune NMDA-R encephalitis (ANRE) shares clinical features with schizophrenia. Recent research also indicates that both disorders are associated with dysfunction of the N-Methyl-D-Aspartate glutamate receptors (NMDA-R) subunit 1. We present the case of Ms A, 16 years old. Ms A presented with acute personality change, bizarre behaviour, delusional ideas and atypical seizures. She had a family history of psychotic disorders, and autistic traits diagnosed in childhood. She was initially diagnosed with a psychotic disorder. Delayed testing of CSF indicated ANRE. As the patient was a Jehovah's witness the treating team was unable to use gammaglobulin therapy; they instead relied on combined plasmapheresis and rituximab. To exclude the possibility that the affected members of this family shared a gene coding for an abnormal configuration of the NMDA receptor subunit 1 we sequenced the region of the GRIN1 gene in DNA extracted from blood in both Ms A and her grandmother. Ms A's condition improved dramatically, though her long-term memory is still demonstrably impaired. No genetic abnormality was detected. This case emphasizes how important it is, for a first episode psychosis, to exclude ANRE and other autoimmune synaptic encephalitides, even in the face of significant family history, and if seronegative, the importance of testing for CSF autoantibodies.

  13. Chinese lupus treatment and research group (CSTAR) registry: X. family history in relation to lupus clinical and immunological manifestations.

    PubMed

    Leng, Xiaomei; Li, Mengtao; Li, Xiangpei; Zhang, Xiao; Liu, Shengyun; Wu, Lijun; Ma, Li; Bi, Liqi; Zuo, Xiaoxia; Sun, Lingyun; Huang, Cibo; Zhao, Jiuliang; Zhao, Yan; Zeng, Xiaofeng

    2018-01-01

    This study aimed to examine the associations between family history and clinical manifestations and immunologic characteristics of lupus in China. Based on their family history, lupus patients from the Chinese lupus treatment and research group (CSTAR) registry were categorised: familial lupus (FL), family history of other rheumatic disorders (RD), and sporadic lupus (SL). Demographic data, clinical manifestations, and laboratory data were compared among these three groups. A total of 2,104 patients from CSTAR were included, with 34 (1.6%) in the FL group, 50 (2.4%) in the RD group, and 2,020 (96.0%) in the SL group. There were no significant differences in age or gender among these groups (p=0.36 and p=0.75, respectively). The prevalence of discoid rash and positivity of anti-RNP antibodies differed significantly among the three groups. Photosensitivity and neurological disorder were marginally significantly different among the three groups (p=0.05). No statistical differences were observed in other clinical manifestations or laboratory results. In the FL group, first-degree relatives (25/34, 73.5%) had higher susceptibility to lupus. Rheumatoid arthritis (RA) (35/50, 70.0%) was the most frequent non-lupus rheumatic disorder in the RD group. Among lupus patients, the rate of familial lupus was lower in Chinese patients than among other ethnicities. Familial lupus cases are found mainly among their first-degree relatives. A family history of lupus did not significantly affect clinical phenotypes, except for higher frequency of discoid rash and anti-RNP in the FL group, and more anti-RNP positivity in the RD group.

  14. Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia

    PubMed Central

    Rohrer, Jonathan D.; Warren, Jason D.; Rossor, Martin N.

    2009-01-01

    We describe ten patients with a clinical diagnosis of primary progressive aphasia (PPA) (pathologically confirmed in three cases) who developed abnormal laughter-like vocalisations in the context of progressive speech output impairment leading to mutism. Failure of speech output was accompanied by increasing frequency of the abnormal vocalisations until ultimately they constituted the patient's only extended utterance. The laughter-like vocalisations did not show contextual sensitivity but occurred as an automatic vocal output that replaced speech. Acoustic analysis of the vocalisations in two patients revealed abnormal motor features including variable note duration and inter-note interval, loss of temporal symmetry of laugh notes and loss of the normal decrescendo. Abnormal laughter-like vocalisations may be a hallmark of a subgroup in the PPA spectrum with impaired control and production of nonverbal vocal behaviour due to disruption of fronto-temporal networks mediating vocalisation. PMID:19435636

  15. Analysis on influencing factors of abnormal renal function in elderly patients with type 2 diabetes mellitus.

    PubMed

    Chai, Tao; Zhang, Dawei; Li, Zhongxin

    2018-04-12

    To investigate the related influencing factors of abnormal renal function in elderly in patients with type 2 diabetes mellitus (T2DM) and their clinical significance. The clinical data of elderly T2DM patients hospitalized in Beijing Luhe Hospital from January 2013 to June2016 were retrospectively analyzed. According to their glomerular filtration rate (GFR) levels, these patients were divided into GFR ≥90 mL/min/1.73m2 group (Group A), GFR =60-90 mL/min/1.73m2 group (Group B), and GFR <60 mL/min/1.73m2 group (Group C, i.e., abnormal renal function group). Clinical and laboratory indicators were compared among each group. A total of 614 elderly T2DM patients were collected and divided into Group A (n=186), Group B (n=280) and Group C (n=148, 24.10%). Among them, patients clinically diagnosed with diabetic nephropathy (DN) accounted for 13.68%, and those complicated with high blood pressure (HBP) accounted for 61.40%. In Group C, DN accounted for only 29.73%. In elderly T2DM patients, HBP course, systolic blood pressure (SBP), diastolic blood pressure (DBP), 2h postprandial blood glucose (2hPBG), serum total cholesterol (TC) and blood uric acid (BUA) were independent influencing factors associated with abnormal renal function, among which HBP had a more significant impact on abnormal renal function. With the increase of blood pressure (BP) level, the extension in the course of DM, the increase in urinary albumin/creatinine (Alb/Cr) and the decrease in GFR, the incidence rate of abnormal renal function was increased. HBP course, SBP, DBP, 2hPBG, TC and BUA are independent risk factors for abnormal renal function in elderly patients with T2DM. Well-controlled BP and blood glucose are protective factors, and a comprehensive treatment targeting to the above influencing factors has important clinical significance in preventing and delaying the occurrence and development of abnormal renal function.

  16. HPA axis reactivity to pharmacologic and psychological stressors in euthymic women with histories of postpartum versus major depression.

    PubMed

    Ferguson, Elizabeth H; Di Florio, Arianna; Pearson, Brenda; Putnam, Karen T; Girdler, Susan; Rubinow, David R; Meltzer-Brody, Samantha

    2017-06-01

    It is unclear whether women with a history of postpartum depression (PPD) have residual, abnormal hypothalamic-pituitary-adrenal (HPA) axis reactivity, as has been reported in major depression (MDD). Further unclear is whether the abnormalities in HPA axis reactivity associated with MDD represent a stable, underlying predisposition or a state-dependent phenomenon. This study sought the following: (1) to determine if euthymic postpartum women with a history of depression have an abnormal HPA axis reactivity to pharmacologic and psychological challenges and (2) to compare HPA reactivity in women with histories of PPD versus MDD. As a secondary objective, we wanted to determine the influence of trauma history on HPA axis function. Forty-five parous (12-24 months postpartum), euthymic women with history of MDD (n = 15), PPD (n = 15), and controls (n = 15) completed pharmacologic (dexamethasone/corticotropin-releasing hormone (CRH) test [DEX/CRH]) and psychological (Trier social stress test [TSST]) challenges during the luteal phase. Outcome measures were cortisol and adrenocorticotropic hormone (ACTH) response after DEX/CRH, and blood pressure, heart rate, epinephrine, norepinephrine, and cortisol response during the TSST. All groups had robust cortisol and ACTH response to DEX/CRH and cortisol response to TSST. Groups did not differ significantly in cortisol or ACTH response to DEX/CRH or in blood pressure, heart rate, epinephrine, norepinephrine, or cortisol response to TSST. Cortisol/ACTH ratio did not differ significantly between groups. Trauma history was associated with decreased cortisol response to DEX/CRH in women with histories of MDD, which was not significant after correction (F 8,125 , p = 0.02, Greenhouse-Geisser corrected p = 0.11). Currently euthymic women with histories of MDD or PPD did not demonstrate residual abnormal stress responsivity following administration of either a pharmacologic or psychological stressor.

  17. Abnormal Neural Activation to Faces in the Parents of Children with Autism

    PubMed Central

    Yucel, G. H.; Belger, A.; Bizzell, J.; Parlier, M.; Adolphs, R.; Piven, J.

    2015-01-01

    Parents of children with an autism spectrum disorder (ASD) show subtle deficits in aspects of social behavior and face processing, which resemble those seen in ASD, referred to as the “Broad Autism Phenotype ” (BAP). While abnormal activation in ASD has been reported in several brain structures linked to social cognition, little is known regarding patterns in the BAP. We compared autism parents with control parents with no family history of ASD using 2 well-validated face-processing tasks. Results indicated increased activation in the autism parents to faces in the amygdala (AMY) and the fusiform gyrus (FG), 2 core face-processing regions. Exploratory analyses revealed hyper-activation of lateral occipital cortex (LOC) bilaterally in autism parents with aloof personality (“BAP+”). Findings suggest that abnormalities of the AMY and FG are related to underlying genetic liability for ASD, whereas abnormalities in the LOC and right FG are more specific to behavioral features of the BAP. Results extend our knowledge of neural circuitry underlying abnormal face processing beyond those previously reported in ASD to individuals with shared genetic liability for autism and a subset of genetically related individuals with the BAP. PMID:25056573

  18. [Value of history and clinical and laboratory data for the diagnosis of dehydration due to acute diarrhea in children younger than 5 years].

    PubMed

    Pruvost, Isabelle; Dubos, François; Aurel, Marie; Hue, Valérie; Martinot, Alain

    2008-04-01

    Acute diarrhea is frequent, costly because of the number of hospital admissions required, and sometimes serious, even fatal to children in France. The clinical diagnosis of dehydration is difficult, but essential to determine management. To summarize the published data on the value of clinical history, clinical signs and laboratory results for diagnosing dehydration during acute diarrhea in young (1 month-5 years) non-malnourished children. Four databases (Medline, INIST, Ovid, and Cochrane) were searched through November 2006, with the key words "dehydration" subcategories "diagnosis, or etiology, or history", "diarrhea" subcategory "diagnosis", and age limits "infant or preschool child". We selected the articles and reviews that included as an endpoint for dehydration "weight gain > 5% after recovery" (the gold standard). Thirteen studies were selected. No single clinical history item, clinical sign or laboratory value was sufficient to discriminate between children with and without dehydration. The reproducibility of clinical signs varied substantially between studies. Persistent skin folds and signs of vasoconstriction contributed the most information, with good specificity but sensitivity < 50%. The combination of at least 3 clinical signs was most discriminative for dehydration. No dehydration scale has been validated. None of the studies selected had a very high level of proof (level 1 and 2); neither signs nor scores have been validated internally or externally because of the low number of subjects. The diagnosis of dehydration due to acute diarrhea in young children depends on the number of signs present, since no individual element of clinical history, clinical picture or laboratory tests distinguished dehydration. Other studies are necessary.

  19. A history of clinical psychology as a profession in America (and a glimpse at its future).

    PubMed

    Benjamin, Ludy T

    2005-01-01

    Clinical psychology emerged as a profession in the United States in the 1890s with studies conducted by psychologists with patients in the mental asylums of that time, and with the founding of Witmer's psychological clinic, where he treated children with learning and behavioral problems. This chapter traces the history of clinical psychology as a profession, from the focus on assessment at the turn of the twentieth century to the provision of psychotherapy that would come to dominate the field after World War II. It concludes with a discussion of some of the contemporary concerns in the profession and how those might impact the future practice of clinical psychologists.

  20. Transforming Coverage of Primary Prevention in Abnormal Psychology Courses.

    ERIC Educational Resources Information Center

    Dalton, James H.; And Others

    1994-01-01

    Maintains that a comprehensive understanding of abnormal psychology requires coverage of recent advances in primary prevention. Describes a conceptual scheme and recommends resources and teaching methods for instructors. Asserts that clinical and community psychology are conceptually distinct but complementary fields. (CFR)

  1. Meiotic abnormalities

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    NONE

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  2. Prevalence of clinical abnormalities in cats found to have nonneoplastic middle ear disease at necropsy: 59 cases (1991-2007).

    PubMed

    Schlicksup, Michael D; Van Winkle, Thomas J; Holt, David E

    2009-10-01

    To determine the prevalence of nonneoplastic middle ear disease among cats undergoing necropsy and the prevalence of clinical abnormalities in cats in which nonneoplastic middle ear disease was identified. Retrospective case series. 59 cats that underwent necropsy between January 1991 and August 2007. Medical records were searched to identify cats in which nonneoplastic middle ear disease was identified at necropsy. For cats included in the study, data that were recorded included signalment, initial complaint, whether the cat had any clinical signs of middle or external ear disease, whether the cat had upper respiratory tract disease, necropsy diagnosis, gross appearance of the bullae, and reason for euthanasia. Signs of middle ear disease that were considered included unilateral peripheral vestibular disease without motor deficits, Horner syndrome, and facial nerve paralysis. Of the 3,442 cats that underwent necropsy during the study period, 59 (1.7%) had nonneoplastic middle ear disease. Six of the 59 (10%) cats, including 1 cat that was affected bilaterally, had clinical signs of middle ear disease. Of these, 5 had signs of unilateral peripheral vestibular disease, and 1 had Horner syndrome. Results suggested that most cats with nonneoplastic middle ear disease did not have associated clinical signs. Findings may be of clinical relevance for cats in which middle ear disease is identified as an incidental finding during computed tomography or magnetic resonance imaging for unrelated diseases.

  3. Effect of intravaginal clindamycin cream on pregnancy outcome and on abnormal vaginal microbial flora of pregnant women.

    PubMed Central

    Rosenstein, I J; Morgan, D J; Lamont, R F; Sheehan, M; Doré, C J; Hay, P E; Taylor-Robinson, D

    2000-01-01

    OBJECTIVES: To determine whether intravaginal clindamycin cream reduces the incidence of abnormal pregnancy outcome in women with abnormal vaginal microbial flora graded as intermediate or BV and to investigate the effect of the antibiotic on vaginal microbial flora. METHODS: A prospective cohort study of pregnant women in an antenatal clinic of a district general hospital. The subjects were 268 women who had abnormal vaginal microbial flora at first clinic visit by examination of a Gram-stained vaginal smear and 34 women with a normal vaginal flora. Two hundred and thirty-seven women were evaluable. Women with abnormal Gram-stained smears (graded as II or III) on clinic recall were randomised to receive treatment (intravaginal clindamycin cream) or placebo and followed to assess outcome of pregnancy, vaginal flora, and detection of Mycoplasma hominis and Ureaplasma urealyticum after treatment. RESULTS: Abnormal outcomes of pregnancy were not significantly different in treated and placebo groups by Chi square (P = 0.2). However, women with grade III flora responded better to clindamycin than women with grade II flora by numbers of abnormal outcomes (P = 0.03) and return to normal vaginal flora (P = 0.01) (logistic regression analysis model). This may be due to differences in vaginal bacterial species in these grades. Women whose abnormal vaginal flora had spontaneously returned to normal on follow-up and were therefore not treated (revertants) had as many abnormal outcomes as placebos suggesting that damage by abnormal bacterial species occurred early in pregnancy. CONCLUSIONS: Gram-stain screening distinguishing grade II from grade III flora may be helpful in prescribing treatment other than clindamycin for women with grade II flora. Earlier diagnosis and treatment may be more effective in preventing an abnormal outcome, possibly as soon as pregnancy is diagnosed or even offered as a pre-conception screen. PMID:10968599

  4. Effect of intravaginal clindamycin cream on pregnancy outcome and on abnormal vaginal microbial flora of pregnant women.

    PubMed

    Rosenstein, I J; Morgan, D J; Lamont, R F; Sheehan, M; Doré, C J; Hay, P E; Taylor-Robinson, D

    2000-01-01

    To determine whether intravaginal clindamycin cream reduces the incidence of abnormal pregnancy outcome in women with abnormal vaginal microbial flora graded as intermediate or BV and to investigate the effect of the antibiotic on vaginal microbial flora. A prospective cohort study of pregnant women in an antenatal clinic of a district general hospital. The subjects were 268 women who had abnormal vaginal microbial flora at first clinic visit by examination of a Gram-stained vaginal smear and 34 women with a normal vaginal flora. Two hundred and thirty-seven women were evaluable. Women with abnormal Gram-stained smears (graded as II or III) on clinic recall were randomised to receive treatment (intravaginal clindamycin cream) or placebo and followed to assess outcome of pregnancy, vaginal flora, and detection of Mycoplasma hominis and Ureaplasma urealyticum after treatment. Abnormal outcomes of pregnancy were not significantly different in treated and placebo groups by Chi square (P = 0.2). However, women with grade III flora responded better to clindamycin than women with grade II flora by numbers of abnormal outcomes (P = 0.03) and return to normal vaginal flora (P = 0.01) (logistic regression analysis model). This may be due to differences in vaginal bacterial species in these grades. Women whose abnormal vaginal flora had spontaneously returned to normal on follow-up and were therefore not treated (revertants) had as many abnormal outcomes as placebos suggesting that damage by abnormal bacterial species occurred early in pregnancy. Gram-stain screening distinguishing grade II from grade III flora may be helpful in prescribing treatment other than clindamycin for women with grade II flora. Earlier diagnosis and treatment may be more effective in preventing an abnormal outcome, possibly as soon as pregnancy is diagnosed or even offered as a pre-conception screen.

  5. Prevalence of abnormal plasma liver enzymes in older people with Type 2 diabetes.

    PubMed

    Morling, J R; Strachan, M W J; Hayes, P C; Butcher, I; Frier, B M; Reynolds, R M; Price, J F

    2012-04-01

    To determine the prevalence and distribution of abnormal plasma liver enzymes in a representative sample of older adults with Type 2 diabetes. Plasma concentrations of alanine aminotransferase, aspartate aminotransferase and γ-glutamyltransferase were measured in a randomly selected, population-based cohort of 1066 men and women aged 60-75 years with Type 2 diabetes (the Edinburgh Type 2 Diabetes Study). Overall, 29.1% (95% CI 26.1-31.8) of patients had one or more plasma liver enzymes above the upper limit of the normal reference range. Only 10.1% of these patients had a prior history of liver disease and a further 12.4% reported alcohol intake above recommended limits. Alanine aminotransferase was the most commonly raised liver enzyme (23.1% of patients). The prevalence of abnormal liver enzymes was significantly higher in men (odds ratio 1.40, 95% CI 1.07-1.83), in the youngest 5-year age band (odds ratio 2.02, 95% CI 1.44-2.84), in patients with diabetes duration < 5 years (odds ratio 1.38, 95% CI 1.01-1.90), plasma HbA(1c) ≥ 58 mmol/mol (7.5%) (odds ratio 1.43, 95% CI 1.09-1.88), obese BMI (odds ratio 2.84, 95% CI 1.59-3.06) and secondary care management for their diabetes (odds ratio 1.40, 95% CI 1.05-1.87). However, all these factors combined accounted for only 7.6% of the variation in liver enzyme abnormality. The prevalence of elevated liver enzymes in people with Type 2 diabetes is high, with only modest variation between clinically defined patient groups. Further research is required to determine the prognostic value of raised, routinely measured liver enzymes to inform decisions on appropriate follow-up investigations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  6. Accentuate the Negative: Grammatical Errors during Narrative Production as a Clinical Marker of Central Nervous System Abnormality in School-Aged Children with Fetal Alcohol Spectrum Disorders

    ERIC Educational Resources Information Center

    Thorne, John C.

    2017-01-01

    Purpose: The purpose of this study was to examine (a) whether increased grammatical error rates during a standardized narrative task are a more clinically useful marker of central nervous system abnormality in Fetal Alcohol Spectrum Disorders (FASD) than common measures of productivity or grammatical complexity and (b) whether combining the rate…

  7. Associations among ADHD, Abnormal Eating and Overweight in a non-clinical sample of Asian children.

    PubMed

    Tong, Lian; Shi, Huijing; Li, Xiaoru

    2017-06-06

    Attention-deficit/hyperactivity disorder (ADHD) has been found to be comorbid with obesity in adults, but the association in children is uncertain. Because the underlying mechanism of comorbidity in children has not been researched sufficiently, this study aims to explore the associations among ADHD, abnormal eating, and body mass index (BMI), as well as the mediating effect of depression in children. We conducted a cross-sectional study of 785 primary students in China. The parent-report version of ADHD Rating Scale-IV (ADHDRS-IV), the Child Eating Behaviour Questionnaire (CEBQ) and the Children's Eating Attitude Test (ChEAT) were used to identify ADHD symptoms and abnormal eating. The Child Behavior Checklist (CBCL) was applied to assess depression. Structural Equation Modeling was carried out to clarify the associations between ADHD symptoms, depression, abnormal eating, and overweight of students. We found that ADHD positively contributed to emotional eating and Bulimia Nervosa symptoms. However, neither emotional eating nor Bulimia Nervosa symptoms was related to BMI in children. We also found that ADHD significantly contributed to depression, and depression directly predicted emotional eating. In conclusion, ADHD increased the risk of abnormal eating in children, while no significant relationship existed between ADHD and BMI. Comorbid depression raised the risk of emotional eating, rather than Bulimia Nervosa symptoms.

  8. Medical genetic issues in clinical of pediatric neurology practice:a history of pediatrics in Peking University First Hospital.

    PubMed

    Wu, Xi-ru

    2006-02-18

    The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history. It was established about 60 years ago. After the division of pediatric neurology (DPN) had been established in 1960s, it had been assigned to cover genetic disorders. During the recent 20 years, efforts have been put on three aspects: (1) Pediatric neurology clinical service and education; (2) research studies of childhood epilepsies and pediatric neurogenetic disorders; and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program. In this paper, we reviewed the history of the pediatric neurology division in our department, our clinical and research work and achievements for neurogenetic diseases.

  9. Abnormal branching and regression of the notochord and its relationship to foregut abnormalities.

    PubMed

    Vleesch Dubois, V N; Quan Qi, B; Beasley, S W; Williams, A

    2002-04-01

    An abnormally positioned notochord has been reported in embryos that develop foregut abnormalities, vertebral defects and other abnormalities of the VATER association. This study examines the patterns of regression of the abnormal notochord in the rat model of the VATER association and investigates the relationship between developmental abnormalities of the notochord and those of the vertebra and foregut. Timed-pregnant Sprague-Dawley rats were given daily intraperitoneal injections of 1.75 mg/kg adriamycin on gestational days 6 - 9 inclusive. Rats were sacrificed between days 14 and 20 and their embryos harvested, histologically sectioned and stained and examined serially. The location and appearance of the degenerating notochord and its relationship to regional structural defects were analysed. All 26 embryos exposed to adriamycin developed foregut abnormalities and had an abnormal notochord. The notochord disappeared by a process of apoptotic degeneration that lagged behind that of the normal embryo: the notochord persisted in the abnormal embryo beyond day 17, whereas in the normal rat it had already disappeared. Similarly, formation of the nucleus pulposus was delayed. Vertebral abnormalities occurred when the notochord was ventrally-positioned. The notochord disappears during day 16 in the normal embryo whereas abnormal branches of the notochord persist until day 19 in the adriamycin-treated embryo. Degeneration of the notochord is dominated by apoptosis. An excessively ventrally-placed notochord is closely associated with abnormalities of the vertebral column, especially hemivertebrae.

  10. Cytological and histopathological abnormalities of the cervix in genital Chlamydia trachomatis infections.

    PubMed

    Cevenini, R; Costa, S; Rumpianesi, F; Donati, M; Guerra, B; Diana, R; Antonini, M P

    1981-10-01

    Since genital infection with Chlamydia trachomatis may be associated with cervical abnormalities 160 patients with grandular ectopia attending a gynaecological outpatient clinic were examined for antibodies against C trachomatis, the presence of C trachomatis infection, and cytological and histopathological abnormalities of the cervix.A significantly higher incidence of histological dysplasia was found in women with glandular ectopia who had antichlamydial antibodies than in those without.

  11. Cytological and histopathological abnormalities of the cervix in genital Chlamydia trachomatis infections

    PubMed Central

    Cevenini, R; Costa, S; Rumpianesi, F; Donati, M; Guerra, B; Diana, R; Antonini, M P

    1981-01-01

    Since genital infection with Chlamydia trachomatis may be associated with cervical abnormalities 160 patients with grandular ectopia attending a gynaecological outpatient clinic were examined for antibodies against C trachomatis, the presence of C trachomatis infection, and cytological and histopathological abnormalities of the cervix. A significantly higher incidence of histological dysplasia was found in women with glandular ectopia who had antichlamydial antibodies than in those without. PMID:7296254

  12. Abnormal vaginal microbiota may be associated with poor reproductive outcomes: a prospective study in IVF patients.

    PubMed

    Haahr, T; Jensen, J S; Thomsen, L; Duus, L; Rygaard, K; Humaidan, P

    2016-04-01

    What is the diagnostic performance of qPCR assays compared with Nugent scoring for abnormal vaginal microbiota and for predicting the success rate of IVF treatment? The vaginal microbiota of IVF patients can be characterized with qPCR tests which may be promising tools for diagnosing abnormal vaginal microbiota and for prediction of clinical pregnancy in IVF treatment. Bacterial vaginosis (BV) is a common genital disorder with a prevalence of approximately 19% in the infertile population. BV is often sub-clinical with a change of the vaginal microbiota from being Lactobacillus spp. dominated to a more heterogeneous environment with anaerobic bacteria, such as Gardnerella vaginalis and Atopobium vaginae. Few studies have been conducted in infertile women, and some have suggested a negative impact on fecundity in the presence of BV. A cohort of 130 infertile patients, 90% Caucasians, attending two Danish fertility clinics for in vitro fertilization (IVF) treatment from April 2014-December 2014 were prospectively enrolled in the trial. Vaginal swabs from IVF patients were obtained from the posterior fornix. Gram stained slides were assessed according to Nugent's criteria. PCR primers were specific for four common Lactobacillus spp., G. vaginalis and A. vaginae. Threshold levels were established using ROC curve analysis. The prevalence of BV defined by Nugent score was 21% (27/130), whereas the prevalence of an abnormal vaginal microbiota was 28% (36/130) defined by qPCR with high concentrations of Gardnerella vaginalis and/or Atopobium vaginae. The qPCR diagnostic approach had a sensitivity and specificity of respectively 93% and 93% for Nugent-defined BV. Furthermore, qPCR enabled the stratification of Nugent intermediate flora. Eighty-four patients completed IVF treatment. The overall clinical pregnancy rate was 35% (29/84). Interestingly, only 9% (2/22) with qPCR defined abnormal vaginal microbiota obtained a clinical pregnancy (P = 0.004). Although a total of 130

  13. Gait abnormalities caused by selective anesthesia of the suprascapular nerve in horses.

    PubMed

    Devine, Dustin V; Jann, Henry W; Payton, Mark E

    2006-05-01

    To assess gait abnormalities associated with selective anesthesia of the suprascapular nerve (SSN) achieved by use of perineural catheterization and thereby determine the function of that nerve as it relates to gait in horses. 3 adult horses with no preexisting clinically apparent lameness at a walk. Each horse was anesthetized; the right SSN was exposed surgically for placement of a perineural catheter to permit delivery of 1 mL of 2% mepivacaine hydrochloride. Six hours after recovery from anesthesia, each horse was videotaped while walking (50-step data acquisition period) before and after administration of mepivacaine. Videotapes were reviewed and the proportion of abnormal steps before and after selective SSN anesthesia was assessed. A step was considered abnormal if a marked amount of scapulohumeral joint instability (ie, lateral luxation of the proximal portion of the humerus) was observed during the weight-bearing phase of the stride. Clinically apparent gait dysfunction was detected in all 3 horses following perineural administration of the local anesthetic agent. Anesthesia of the SSN resulted in scapulohumeral joint instability as evidenced by consistent lateral excursion of the shoulder region during the weight-bearing phase of gait at a walk. The proportion of abnormal steps before and after SSN anesthesia was significantly different in all 3 horses. These data support the role of the SSN in shoulder joint stability in horses and define SSN dysfunction as 1 mechanism by which the syndrome and gait dysfunction clinically referred to as sweeny may develop.

  14. A prospective study of diffusion weighted magnetic resonance imaging abnormalities in patients with cluster of seizures and status epilepticus.

    PubMed

    Jabeen, S A; Cherukuri, Pavankumar; Mridula, Rukmini; Harshavardhana, K R; Gaddamanugu, Padmaja; Sarva, Sailaja; Meena, A K; Borgohain, Rupam; Jyotsna Rani, Y

    2017-04-01

    To study the frequency, imaging characteristics, and clinical predictors for development of periictal diffusion weighted MRI abnormalities. We prospectively analyzed electro clinical and imaging characteristic of adult patients with cluster of seizures or status epilepticus between November 2013 and November 2015, in whom the diffusion weighted imaging was done within 24h after the end of last seizure (clinical or electrographic). There were thirty patients who fulfilled the inclusion and exclusion criteria. Twenty patients (66%) had periictal MRI abnormalities. Nine patients (34%) did not have any MRI abnormality. All the patients with PMA had abnormalities on diffusion weighted imaging (DWI). Hippocampal abnormalities were seen in nine (53%), perisylvian in two (11.7%), thalamic in five (30%), splenium involvement in two (11.7%) and cortical involvement (temporo-occipital, parieto-occipital, temporo-parietal, fronto-parietal and fronto-temporal) in sixteen (94.1%) patients. Complete reversal of DWI changes was noted in sixteen (80%) patients and four (20%) patients showed partial resolution of MRI abnormalities. Mean duration of seizures was significantly higher among patients with PMA (59.11+20.97h) compared to those without MRI changes (27.33+9.33h) (p<0.001). Diffusion abnormalities on MRI are common in patients with cluster of seizures and status epilepticus and were highly concordant with clinical semiology and EEG activity. Patients with longer duration of seizures/status were more likely to have PMA. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Genetic abnormality predicts benefit for a rare brain tumor

    Cancer.gov

    A clinical trial has shown that addition of chemotherapy to radiation therapy leads to a near doubling of median survival time in patients with a form of brain tumor (oligodendroglioma) that carries a chromosomal abnormality called the 1p19q co-deletion.

  16. Alopecia in four kittens caused by abnormal maternal licking behaviour.

    PubMed

    Fanton, N; Michelazzi, M; Cornegliani, L

    2015-11-01

    Abnormal maternal behaviour has been reported in cats, but is generally not included among the causes of alopecia in kittens. A litter of four kittens, 2 months old, was referred for evaluation of facial alopecia of differing severity. The 2-year-old queen was unaffected. Dermatological examination of the kittens did not find any infectious cause. Trichograms showed broken hair shafts with longitudinal splitting. Congenital alopecia was unlikely based on the clinical presentation. A behavioural consultation revealed abnormal grooming behaviour by the mother, who chewed and removed the hair from the kittens. The kittens were separated from the queen and alopecia resolved within a few weeks. To the authors' knowledge, this is the first report of alopecia caused by abnormal maternal licking behaviour. Abnormal maternal behaviour should be considered in cases of alopecia affecting a litter of kittens, when infectious and congenital causes have been ruled out. © 2015 Australian Veterinary Association.

  17. Neuroanatomical Abnormalities in Violent Individuals with and without a Diagnosis of Schizophrenia.

    PubMed

    Del Bene, Victor A; Foxe, John J; Ross, Lars A; Krakowski, Menahem I; Czobor, Pal; De Sanctis, Pierfilippo

    2016-01-01

    Several structural brain abnormalities have been associated with aggression in patients with schizophrenia. However, little is known about shared and distinct abnormalities underlying aggression in these subjects and non-psychotic violent individuals. We applied a region-of-interest volumetric analysis of the amygdala, hippocampus, and thalamus bilaterally, as well as whole brain and ventricular volumes to investigate violent (n = 37) and non-violent chronic patients (n = 26) with schizophrenia, non-psychotic violent (n = 24) as well as healthy control subjects (n = 24). Shared and distinct volumetric abnormalities were probed by analysis of variance with the factors violence (non-violent versus violent) and diagnosis (non-psychotic versus psychotic), adjusted for substance abuse, age, academic achievement and negative psychotic symptoms. Patients showed elevated vCSF volume, smaller left hippocampus and smaller left thalamus volumes. This was particularly the case for non-violent individuals diagnosed with schizophrenia. Furthermore, patients had reduction in right thalamus size. With regard to left amygdala, we found an interaction between violence and diagnosis. More specifically, we report a double dissociation with smaller amygdala size linked to violence in non-psychotic individuals, while for psychotic patients smaller size was linked to non-violence. Importantly, the double dissociation appeared to be mostly driven by substance abuse. Overall, we found widespread morphometric abnormalities in subcortical regions in schizophrenia. No evidence for shared volumetric abnormalities in individuals with a history of violence was found. Finally, left amygdala abnormalities in non-psychotic violent individuals were largely accounted for by substance abuse. This might be an indication that the association between amygdala reduction and violence is mediated by substance abuse. Our results indicate the importance of structural abnormalities in aggressive individuals.

  18. Abnormal sleep duration associated with hastened depressive recurrence in bipolar disorder.

    PubMed

    Gershon, Anda; Do, Dennis; Satyanarayana, Satyanand; Shah, Saloni; Yuen, Laura D; Hooshmand, Farnaz; Miller, Shefali; Wang, Po W; Ketter, Terence A

    2017-08-15

    Abnormal sleep duration (ASD, <6 or ≥9h) is common in bipolar disorder (BD), and often persists beyond acute mood episodes. Few longitudinal studies have examined the ASD's impact upon BD illness course. The current study examined the longitudinal impact of ASD upon bipolar depressive recurrence/recovery. Outpatients referred to the Stanford BD Clinic during 2000-2011 were assessed with the Systematic Treatment Enhancement Program for BD (STEP-BD) Affective Disorders Evaluation at baseline, and with the Clinical Monitoring Form at monthly follow-ups for up to two years of naturalistic treatment. Prevalence and clinical correlates of ASD in 93 recovered (euthymic ≥8 weeks) and 153 depressed BD patients were assessed. Kaplan-Meier analyses (Log-Rank tests) assessed relationships between baseline ASD and longitudinal depressive severity, with Cox Proportional Hazard analyses assessing potential mediators. ASD was only half as common among recovered versus depressed BD outpatients, but was significantly associated with hastened depressive recurrence (Log-Rank p=0.007), mediated by lifetime anxiety disorder and attenuated by lifetime history of psychosis, and had only a non-significant tendency towards association with delayed depressive recovery (Log-Rank p=0.07). In both recovered and depressed BD outpatients, baseline ASD did not have significant association with any baseline BD illness characteristic. Self-reported sleep duration. Limited generalizability beyond our predominately white, female, educated, insured American BD specialty clinic sample. Baseline ASD among recovered BD patients may be a risk marker for hastened depressive recurrence, suggesting it could be an important therapeutic target between mood episodes. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. [History of Clinical Psychiatry of Sapienza University of Rome in Policlinico Umberto I].

    PubMed

    Coccanari de' Fornari, Maria Antonietta; Iannitelli, Angela; Biondi, Massimo

    2017-01-01

    The present article intends to go over the history of the Psychiatric Clinic of the Sapienza University of Rome, starting from the beginning of the teaching of Psychiatry at Santa Maria della Pietà mental hospital, back in 1871, to the eventual founding, at the University "La Sapienza" and the Umberto I general hospital, of the Institute of Psychiatric Clinic and next of the Nervous and Mental Diseases' Clinic with the enclosed specialization school in Psychiatry. A detailed overview is supplied on the characters of the eminent scientists who have succeeded over time at the head of the Clinic and on the description of its different organization, conceived by each of them because of their educational and cultural roots. In this humus is born, in 1966, the journal Rivista di Psichiatria, still alive. To follow, a brief description of what the academic Psychiatry of the Umberto I nowadays represents, and indeed point of contact of different psychiatric thinking roots, with an organic, pharmacological, phenomenological, and psychotherapeutic orientation, this latter in the psychodynamic, cognitive-behavioral, and family-related approaches.

  20. Abnormal pulmonary function and associated risk factors in children and adolescents with sickle cell anemia

    PubMed Central

    Arteta, Manuel; Campbell, Andrew; Nouraie, Mehdi; Rana, Sohail; Onyekwere, Onyinye; Ensing, Gregory; Sable, Craig; Dham, Niti; Darbari, Deepika; Luchtman-Jones, Lori; Kato, Gregory J.; Gladwin, Mark T.; Castro, Oswaldo L.; Minniti, Caterina P.; Gordeuk, Victor R.

    2015-01-01

    Obstructive and restrictive pulmonary changes develop in children with sickle cell disease, but reports conflict as to the type of change that predominates. We prospectively performed spirometry, plethysmography and lung diffusing capacity in 146 children aged 7–20 years with hemoglobin SS or Sβ0-thalassemia. Nineteen percent of the patients had obstructive physiology as defined according to guidelines of the American Thoracic Society. In addition, 9% had restrictive physiology and 11% had abnormal but not categorized physiology. Increasing age, patient- or family-reported history of asthma or wheezing, and higher lactate dehydrogenase concentration were independent predictors of obstruction as reflected in lower FEV1/FVC. In conclusion, abnormal pulmonary function, most often obstructive, is common in children with hemoglobin SS and Sβ0-thalassemia. Full pulmonary function testing should be performed in children with hemoglobin SS or Sβ0 thalassemia, especially with history of asthma or wheezing and accentuated elevations in hemolytic markers. PMID:24309610

  1. Neurofunctional Abnormalities during Sustained Attention in Severe Childhood Abuse.

    PubMed

    Lim, Lena; Hart, Heledd; Mehta, Mitul A; Simmons, Andrew; Mirza, Kah; Rubia, Katya

    2016-01-01

    Childhood maltreatment is associated with adverse affective and cognitive consequences including impaired emotion processing, inhibition and attention. However, the majority of functional magnetic resonance imaging (fMRI) studies in childhood maltreatment have examined emotion processing, while very few studies have tested the neurofunctional substrates of cognitive functions and none of attention. This study investigated the association between severe childhood abuse and fMRI brain activation during a parametric sustained attention task with a progressively increasing load of sustained attention in 21 medication-naïve, drug-free young people with a history of childhood abuse controlling for psychiatric comorbidities by including 19 psychiatric controls matched for psychiatric diagnoses, and 27 healthy controls. Behaviorally, the participants exposed to childhood abuse showed increased omission errors in the task which correlated positively trend-wise with the duration of their abuse. Neurofunctionally, the participants with a history of childhood abuse, but not the psychiatric controls, displayed significantly reduced activation relative to the healthy controls during the most challenging attention condition only in typical attention regions including left inferior and dorsolateral prefrontal cortex, insula and temporal areas. We therefore show for the first time that severe childhood abuse is associated with neurofunctional abnormalities in key ventral frontal-temporal sustained attention regions. The findings represent a first step towards the delineation of abuse-related neurofunctional abnormalities in sustained attention, which may help in the development of effective treatments for victims of childhood abuse.

  2. Neurofunctional Abnormalities during Sustained Attention in Severe Childhood Abuse

    PubMed Central

    Mehta, Mitul A.; Simmons, Andrew; Mirza, Kah; Rubia, Katya

    2016-01-01

    Childhood maltreatment is associated with adverse affective and cognitive consequences including impaired emotion processing, inhibition and attention. However, the majority of functional magnetic resonance imaging (fMRI) studies in childhood maltreatment have examined emotion processing, while very few studies have tested the neurofunctional substrates of cognitive functions and none of attention. This study investigated the association between severe childhood abuse and fMRI brain activation during a parametric sustained attention task with a progressively increasing load of sustained attention in 21 medication-naïve, drug-free young people with a history of childhood abuse controlling for psychiatric comorbidities by including 19 psychiatric controls matched for psychiatric diagnoses, and 27 healthy controls. Behaviorally, the participants exposed to childhood abuse showed increased omission errors in the task which correlated positively trend-wise with the duration of their abuse. Neurofunctionally, the participants with a history of childhood abuse, but not the psychiatric controls, displayed significantly reduced activation relative to the healthy controls during the most challenging attention condition only in typical attention regions including left inferior and dorsolateral prefrontal cortex, insula and temporal areas. We therefore show for the first time that severe childhood abuse is associated with neurofunctional abnormalities in key ventral frontal-temporal sustained attention regions. The findings represent a first step towards the delineation of abuse-related neurofunctional abnormalities in sustained attention, which may help in the development of effective treatments for victims of childhood abuse. PMID:27832090

  3. Approach to the patient with abnormal liver tests.

    PubMed

    Mahl, T C

    1998-01-01

    Patients with abnormal liver blood tests are frequently encountered by primary care practitioners. An understanding of the cellular implications of these abnormalities is helpful in determining the etiology of liver injury. Elevated serum aminotransferases suggest injury of hepatocytes. Elevations in alkaline phosphatase suggest injury to any part of the biliary tree. Neither of these enzymes measures liver function. Serum bilirubin and albumin levels, as well as prothrombin time, do measure function and can be used in conjunction with the physical examination and the specific etiology of the patient's disorder to determine a patient's prognosis. Many diverse disorders result in similar biochemical patterns of liver injury. The history, physical examination, and use of specific disease markers (hepatitis serology, autoimmune markers, and so forth) help to narrow the differential diagnosis. The definitive diagnosis of all liver diseases usually rests on histology: the liver biopsy is the gold standard. With the advent of treatments for liver disease, identifying and accurately diagnosing patients with liver disorders will result in improved quality of life and survival.

  4. Determinants of spirometric abnormalities among silicotic patients in Hong Kong.

    PubMed

    Leung, Chi C; Chang, Kwok C; Law, Wing S; Yew, Wing W; Tam, Cheuk M; Chan, Chi K; Wong, Man Y

    2005-09-01

    Silicosis is the second commonest notified occupational disease in Hong Kong. To characterize the determinants of spirometric abnormalities in silicosis. The spirometric patterns of consecutive silicotic patients on confirmation by the Pneumoconiosis Medical Board from 1991 to 2002 were correlated with demographic characteristics, occupational history, smoking history, tuberculosis (TB) history and radiographic features by univariate and multiple regression analyses. Of 1576 silicotic patients included, 55.6% showed normal spirometry, 28.5% normal forced vital capacity (FVC>or=80% predicted) but reduced forced expiratory ratio (FER<70%), 7.6% reduced FVC but normal FER, and 8.4% reduced both FVC and FER. Age, ever-smoking, cigarette pack-years, industry, job type, history of TB, size of lung nodules and progressive massive fibrosis (PMF) were all significantly associated with airflow limitation on univariate analysis (all P<0.05), while sex and profusion of nodules were not. Only age, cigarette pack-years, history of TB, size of lung nodules and PMF remained as significant independent predictors of airflow obstruction in multiple logistic regression analysis. After controlling for airflow obstruction, only shorter exposure duration, history of TB and profusion of nodules were significant independent predictors of reduced FVC. As well as age, history of TB, cigarette pack-years, PMF and nodule size contributed comparable effects to airflow obstruction in multiple linear regression analyses, while profusion of nodules was the strongest factor for reduced vital capacity. In an occupational compensation setting, disease indices and history of tuberculosis are independent predictors of both airflow obstruction and reduced vital capacity for silicotic patients.

  5. [Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].

    PubMed

    Qin, Miao; Gong, Chunxiu; Qi, Zhan; Wu, Di; Liu, Min; Gu, Yi; Cao, Bingyan; Li, Wenjing; Liang, Xuejun

    2014-12-01

    To summarize the clinical features of idiopathic hypogonadotropic hypogonadism (IHH) diagnosed during childhood, and detect mutations in KAL1 and FGFR1, acting as key clues for diagnoses. We collected and analyzed clinical data of 21 cases (including demographic data, chief complaint, history of present illness, family history, physical examination, laboratory tests and imaging studies, etc.) diagnosed with IHH from December 2008 to February 2013. Polymerase chain reaction and gene sequencing was applied to detect mutations on KAL1 and FGFR1. Fifty healthy unrelated individuals were choosen as controls. Of 21 patients with IHH, 19 were males and 2 females, they visited us initially from 8-17 years old, with an average of (13.58 ± 2.38) years old. Sixteen cases were KS patients (76%). One boy reported abnormal sense of smelling but having olfactory perfect picture on MRI; 2/19 male cases had no puberty when they were over 13-14 years old without abnormal external genitalia. 8/19 cases only had small penis, 8/19 had both of cryptorchidism and small penis, and the Case 2 also had hypospadias. One boy had cryptorchidism combined with a normal penis. Only 2 girls diagnosed as IHH who visited us because of no puberty signs when they were 13 and 16 years old, respectively. Other clinical manifestations included: one with gynecomastia, 2 had mental retardation, and one was deaf; one with high palatal arch; one with mirror-movement and one with left renal agenesis but normal renal function respectively. Laboratory tests showed that the basic testosterone (T) is low and with inappropriately low or normal gonadotropin hormones. The results of cases of standard human chorionic gonadotropin (HCG) test of 7 cases out of 19 male children's were normal (testosterone>1 100 ng/L), and another nine cases continued to complete the extended HCG test, and the testosterone levels of two of them (cases 6, 8) were still lower than 1 000 ng/L. Family history: the parents in 9/21 family had

  6. History of postpartum depression in a clinic-based sample of women with premenstrual dysphoric disorder.

    PubMed

    Kepple, Alyson L; Lee, Ellen E; Haq, Nazli; Rubinow, David R; Schmidt, Peter J

    2016-04-01

    Overlapping comorbidities between premenstrual dysphoric disorder (PMDD) and postpartum depression (PPD) suggest that these disorders represent a continuum of vulnerability with shared pathophysiology. We report the past histories of PPD (and other Axis I psychiatric illnesses) in a clinic-based sample of women meeting criteria for PMDD. 215 women, ages 19 to 51 years, who attended the National Institute of Mental Health Mood Disorders Clinic between 1988 and 2013 seeking treatment for PMDD and in whom we confirmed the diagnosis of PMDD (DSM-IV), were identified. All were administered the Structured Clinical Interview for DSM-III-R or -IV. The frequency of PPD (major or minor) was established in the subgroup of women (n = 137) who had delivered at least 1 child. Ninety-three women (43.3%) had a past history of a mood disorder (ie, either major [n = 67; 31.2%] or minor [n = 10; 4.7%] depression or PPD [n = 16; 7.4%; 11.7% of parous women]). Nine of the 16 women with PMDD and a past PPD had either a past major depressive episode (MDE) or subsyndromal anxiety disorder. Thirty-three women (15.3%) had a past history of an Axis I anxiety disorder. A total of 40 women (18.6%) met criteria for past alcohol or drug abuse, 3 (1.4%) met criteria for bulimia nervosa, and 2 (0.9%) met criteria for anorexia nervosa. Our data demonstrate that PMDD and PPD do not frequently co-occur. These data do not suggest that PMDD and PPD share similar pathophysiology beyond being ovarian-steroid-triggered mood disorders. The high comorbidity of past MDE could contribute to the increased risk both for future MDE and for PPD in some women with PMDD. © Copyright 2016 Physicians Postgraduate Press, Inc.

  7. Connectomics and graph theory analyses: Novel insights into network abnormalities in epilepsy.

    PubMed

    Gleichgerrcht, Ezequiel; Kocher, Madison; Bonilha, Leonardo

    2015-11-01

    The assessment of neural networks in epilepsy has become increasingly relevant in the context of translational research, given that localized forms of epilepsy are more likely to be related to abnormal function within specific brain networks, as opposed to isolated focal brain pathology. It is notable that variability in clinical outcomes from epilepsy treatment may be a reflection of individual patterns of network abnormalities. As such, network endophenotypes may be important biomarkers for the diagnosis and treatment of epilepsy. Despite its exceptional potential, measuring abnormal networks in translational research has been thus far constrained by methodologic limitations. Fortunately, recent advancements in neuroscience, particularly in the field of connectomics, permit a detailed assessment of network organization, dynamics, and function at an individual level. Data from the personal connectome can be assessed using principled forms of network analyses based on graph theory, which may disclose patterns of organization that are prone to abnormal dynamics and epileptogenesis. Although the field of connectomics is relatively new, there is already a rapidly growing body of evidence to suggest that it can elucidate several important and fundamental aspects of abnormal networks to epilepsy. In this article, we provide a review of the emerging evidence from connectomics research regarding neural network architecture, dynamics, and function related to epilepsy. We discuss how connectomics may bring together pathophysiologic hypotheses from conceptual and basic models of epilepsy and in vivo biomarkers for clinical translational research. By providing neural network information unique to each individual, the field of connectomics may help to elucidate variability in clinical outcomes and open opportunities for personalized medicine approaches to epilepsy. Connectomics involves complex and rich data from each subject, thus collaborative efforts to enable the

  8. Clinical disease and laboratory abnormalities in free-ranging desert tortoises in California (1990-1995).

    PubMed

    Christopher, Mary M; Berry, Kristin H; Henen, Brian T; Nagy, Kenneth A

    2003-01-01

    Desert tortoise (Gopherus agassizii) populations have experienced precipitous declines resulting from the cumulative impact of habitat loss and human and disease-related mortality. Diagnosis of disease in live, free-ranging tortoises is facilitated by evaluation of clinical signs and laboratory test results but may be complicated by seasonal and environmental effects. The goals of this study were: 1) to describe and monitor clinical and laboratory signs of disease in adult, free-ranging desert tortoises at three sites in the Mojave Desert of California (USA) between October 1990 and October 1995; 2) to evaluate associations between clinical signs and hematologic, biochemical, serologic, and microbiologic test results; 3) to characterize disease patterns by site, season, and sex; and 4) to assess the utility of diagnostic tests in predicting morbidity and mortality. Venous blood samples were obtained four times per year from tortoises of both sexes at the Desert Tortoise Research Natural Area (DTNA), Goffs/Fenner Valley, and Ivanpah Valley. Tortoises were given a physical examination, and clinical abnormalities were graded by type and severity. Of 108 tortoises, 68.5% had clinical signs of upper respiratory tract disease consistent with mycoplasmosis at least once during the study period. In addition, 48.1% developed moderate to severe shell lesions consistent with cutaneous dyskeratosis. Ulcerated or plaque-like oral lesions were noted on single occasions in 23% of tortoises at Goffs and 6% of tortoises at Ivanpah. Tortoises with oral lesions were significantly more likely than tortoises without lesions to have positive nasal cultures for Mycoplasma agassizii (P = 0.001) and to be dehydrated (P = 0.0007). Nine tortoises had marked azotemia (blood urea nitrogen [BUN] > 100 mg/dl) or persistent azotemia (BUN 63-76 mg/dl); four of these died, three of which had necropsy confirmation of urinary tract disease. Laboratory tests had low sensitivity but high specificity in

  9. Clinical disease and laboratory abnormalities in free-ranging desert tortoises in California (1990-1995)

    USGS Publications Warehouse

    Christopher, Mary M.; Berry, Kristin H.; Henen, Brian T.; Nagy, Kenneth A.

    2003-01-01

    Desert tortoise (Gopherus agassizii) populations have experienced precipitous declines resulting from the cumulative impact of habitat loss and human and disease-related mortality. Diagnosis of disease in live, free-ranging tortoises is facilitated by evaluation of clinical signs and laboratory test results but may be complicated by seasonal and environmental effects. The goals of this study were: 1) to describe and monitor clinical and laboratory signs of disease in adult, free-ranging desert tortoises at three sites in the Mojave Desert of California (USA) between October 1990 and October 1995; 2) to evaluate associations between clinical signs and hematologic, biochemical, serologic, and microbiologic test results; 3) to characterize disease patterns by site, season, and sex; and 4) to assess the utility of diagnostic tests in predicting morbidity and mortality. Venous blood samples were obtained four times per year from tortoises of both sexes at the Desert Tortoise Research Natural Area (DTNA), Goffs/Fenner Valley, and Ivanpah Valley. Tortoises were given a physical examination, and clinical abnormalities were graded by type and severity. Of 108 tortoises, 68.5% had clinical signs of upper respiratory tract disease consistent with mycoplasmosis at least once during the study period. In addition, 48.1% developed moderate to severe shell lesions consistent with cutaneous dyskeratosis. Ulcerated or plaque-like oral lesions were noted on single occasions in 23% of tortoises at Goffs and 6% of tortoises at Ivanpah. Tortoises with oral lesions were significantly more likely than tortoises without lesions to have positive nasal cultures for Mycoplasma agassizii(P=0.001) and to be dehydrated (P=0.0007). Nine tortoises had marked azotemia (blood urea nitrogen [BUN] >100 mg/dl) or persistent azotemia (BUN 63–76 mg/dl); four of these died, three of which had necropsy confirmation of urinary tract disease. Laboratory tests had low sensitivity but high specificity in

  10. [Impact analysis of shuxuetong injection on abnormal changes of ALT based on generalized boosted models propensity score weighting].

    PubMed

    Yang, Wei; Yi, Dan-Hui; Xie, Yan-Ming; Yang, Wei; Dai, Yi; Zhi, Ying-Jie; Zhuang, Yan; Yang, Hu

    2013-09-01

    To estimate treatment effects of Shuxuetong injection on abnormal changes on ALT index, that is, to explore whether the Shuxuetong injection harms liver function in clinical settings and to provide clinical guidance for its safe application. Clinical information of traditional Chinese medicine (TCM) injections is gathered from hospital information system (HIS) of eighteen general hospitals. This is a retrospective cohort study, using abnormal changes in ALT index as an outcome. A large number of confounding biases are taken into account through the generalized boosted models (GBM) and multiple logistic regression model (MLRM) to estimate the treatment effects of Shuxuetong injections on abnormal changes in ALT index and to explore possible influencing factors. The advantages and process of application of GBM has been demonstrated with examples which eliminate the biases from most confounding variables between groups. This serves to modify the estimation of treatment effects of Shuxuetong injection on ALT index making the results more reliable. Based on large scale clinical observational data from HIS database, significant effects of Shuxuetong injection on abnormal changes in ALT have not been found.

  11. Holy Psychopathology Batman: The Pedagogical Use of Comic Books in the Teaching of Abnormal Psychology

    ERIC Educational Resources Information Center

    Rahman, Reece O.; Zeglin, Robert J.

    2014-01-01

    Many undergraduate psychology students eventually choose a career providing clinical mental health services. A background in abnormal psychology (psychopathology) is helpful and requisite in these graduate academic and future professional venues. The creativity needed to adequately teach the complex material covered in most abnormal psychology…

  12. The Mushroom Curriculum: Using Natural History to Teach Psychology.

    ERIC Educational Resources Information Center

    Sommer, Robert

    1989-01-01

    Describes the development and content of a freshman seminar titled "The Psychology of Mushrooms," which teaches psychology as natural history. This approach allowed the course to proceed from concrete experience to general principals of perception, learning, social, and abnormal psychology. (Author/LS)

  13. Cuticular Drusen: Clinical Phenotypes and Natural History Defined Using Multimodal Imaging.

    PubMed

    Balaratnasingam, Chandrakumar; Cherepanoff, Svetlana; Dolz-Marco, Rosa; Killingsworth, Murray; Chen, Fred K; Mendis, Randev; Mrejen, Sarah; Too, Lay Khoon; Gal-Or, Orly; Curcio, Christine A; Freund, K Bailey; Yannuzzi, Lawrence A

    2018-01-01

    To define the range and life cycles of cuticular drusen phenotypes using multimodal imaging and to review the histologic characteristics of cuticular drusen. Retrospective, observational cohort study and experimental laboratory study. Two hundred forty eyes of 120 clinic patients with a cuticular drusen phenotype and 4 human donor eyes with cuticular drusen (n = 2), soft drusen (n = 1), and hard drusen (n = 1). We performed a retrospective review of clinical and multimodal imaging data of patients with a cuticular drusen phenotype. Patients had undergone imaging with various combinations of color photography, fluorescein angiography, indocyanine green angiography, near-infrared reflectance, fundus autofluorescence, high-resolution OCT, and ultrawide-field imaging. Human donor eyes underwent processing for high-resolution light and electron microscopy. Appearance of cuticular drusen in multimodal imaging and the topography of a cuticular drusen distribution; age-dependent variations in cuticular drusen phenotypes, including the occurrence of retinal pigment epithelium (RPE) abnormalities, choroidal neovascularization, acquired vitelliform lesions (AVLs), and geographic atrophy (GA); and ultrastructural and staining characteristics of druse subtypes. The mean age of patients at the first visit was 57.9±13.4 years. Drusen and RPE changes were seen in the peripheral retina, anterior to the vortex veins, in 21.8% of eyes. Of eyes with more than 5 years of follow-up, cuticular drusen disappeared from view in 58.3% of eyes, drusen coalescence was seen in 70.8% of eyes, and new RPE pigmentary changes developed in 56.2% of eyes. Retinal pigment epithelium abnormalities, AVLs, neovascularization, and GA occurred at a frequency of 47.5%, 24.2%, 12.5%, and 25%, respectively, and were significantly more common in patients older than 60 years of age (all P < 0.015). Occurrence of GA and neovascularization were important determinants of final visual acuity in eyes with the

  14. Development of a relational database to capture and merge clinical history with the quantitative results of radionuclide renography.

    PubMed

    Folks, Russell D; Savir-Baruch, Bital; Garcia, Ernest V; Verdes, Liudmila; Taylor, Andrew T

    2012-12-01

    Our objective was to design and implement a clinical history database capable of linking to our database of quantitative results from (99m)Tc-mercaptoacetyltriglycine (MAG3) renal scans and export a data summary for physicians or our software decision support system. For database development, we used a commercial program. Additional software was developed in Interactive Data Language. MAG3 studies were processed using an in-house enhancement of a commercial program. The relational database has 3 parts: a list of all renal scans (the RENAL database), a set of patients with quantitative processing results (the Q2 database), and a subset of patients from Q2 containing clinical data manually transcribed from the hospital information system (the CLINICAL database). To test interobserver variability, a second physician transcriber reviewed 50 randomly selected patients in the hospital information system and tabulated 2 clinical data items: hydronephrosis and presence of a current stent. The CLINICAL database was developed in stages and contains 342 fields comprising demographic information, clinical history, and findings from up to 11 radiologic procedures. A scripted algorithm is used to reliably match records present in both Q2 and CLINICAL. An Interactive Data Language program then combines data from the 2 databases into an XML (extensible markup language) file for use by the decision support system. A text file is constructed and saved for review by physicians. RENAL contains 2,222 records, Q2 contains 456 records, and CLINICAL contains 152 records. The interobserver variability testing found a 95% match between the 2 observers for presence or absence of ureteral stent (κ = 0.52), a 75% match for hydronephrosis based on narrative summaries of hospitalizations and clinical visits (κ = 0.41), and a 92% match for hydronephrosis based on the imaging report (κ = 0.84). We have developed a relational database system to integrate the quantitative results of MAG3 image

  15. Clinical aspects of eosinophilic meningitis and meningoencephalitis caused by Angiostrongylus cantonensis, the rat lungworm.

    PubMed

    Murphy, Gerald S; Johnson, Stuart

    2013-06-01

    Angiostrongylus Eosinophilic Meningitis is caused by human infection with larvae of the rat lungworm, Angiostrongylus cantonensis. The clinical presentation includes a spectrum of disease, from meningitis through radiculitis, cranial nerve abnormalities, ataxia, encephalitis, coma, and rarely death. The condition is diagnosed by recognizing the triad of: the clinical syndrome, eosinophils in the cerebrospinal fluid or blood, and exposure history. A history of eating raw or poorly cooked snails is classic, but ingestion of other intermediate hosts or unwashed produce (such as lettuce) harboring hosts is not uncommon. Several serologic tests exist but none has yet been fully validated. There is good evidence that a 2 week course of high dose corticosteroids shortens the duration and severity of symptoms. There is somewhat weaker evidence that albendazole reduces symptoms. The combination of prednisolone and albendazole is being used more commonly for treatment. Some suggestions for future research are given.

  16. Placental development and function in women with a history of placenta-related complications: a systematic review.

    PubMed

    Reijnders, Ignatia F; Mulders, Annemarie G M G J; Koster, Maria P H

    2018-03-01

    Women with a history of placenta-related pregnancy complications, such as preeclampsia, intrauterine growth restriction or preterm delivery, have an increased risk for recurrence of such complications. This recurrence is likely the result of underlying endothelial dysfunction that leads to abnormal placentation, especially in complications with an early onset. This study provides an overview of biomarkers of placental development and function in pregnancies from women with a history of placenta-related complications. A systematic literature search was conducted limited to human studies and including keywords related to a history of placenta-related complications and markers of placental development and function. Two independent reviewers assessed eligibility and quality of 1553 retrieved unique articles. Five articles reporting on placental development and function in women with an obstetric history of preeclampsia (n = 3), intrauterine growth restriction (n = 1) and preterm delivery (n = 2) were eligible for quality assessment. We identified associations between a history of preeclampsia and abnormal placental histological findings at term in the current pregnancy, but found contradictory results regarding presence of uterine artery notching. In women with a history of very preterm delivery (<32 weeks), one study showed associations with abnormal placental histology. Literature on the association between a history of placenta-related complications and placental development and function in subsequent pregnancies is scarce and studies are heterogeneous. However, literature shows that placenta-related pregnancy complications are associated with subsequent placental histology. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  17. Diagnostic yield and accuracy of coronary CT angiography after abnormal nuclear myocardial perfusion imaging.

    PubMed

    Meinel, Felix G; Schoepf, U Joseph; Townsend, Jacob C; Flowers, Brian A; Geyer, Lucas L; Ebersberger, Ullrich; Krazinski, Aleksander W; Kunz, Wolfgang G; Thierfelder, Kolja M; Baker, Deborah W; Khan, Ashan M; Fernandes, Valerian L; O'Brien, Terrence X

    2018-06-15

    We aimed to determine the diagnostic yield and accuracy of coronary CT angiography (CCTA) in patients referred for invasive coronary angiography (ICA) based on clinical concern for coronary artery disease (CAD) and an abnormal nuclear stress myocardial perfusion imaging (MPI) study. We enrolled 100 patients (84 male, mean age 59.6 ± 8.9 years) with an abnormal MPI study and subsequent referral for ICA. Each patient underwent CCTA prior to ICA. We analyzed the prevalence of potentially obstructive CAD (≥50% stenosis) on CCTA and calculated the diagnostic accuracy of ≥50% stenosis on CCTA for the detection of clinically significant CAD on ICA (defined as any ≥70% stenosis or ≥50% left main stenosis). On CCTA, 54 patients had at least one ≥50% stenosis. With ICA, 45 patients demonstrated clinically significant CAD. A positive CCTA had 100% sensitivity and 84% specificity with a 100% negative predictive value and 83% positive predictive value for clinically significant CAD on a per patient basis in MPI positive symptomatic patients. In conclusion, almost half (48%) of patients with suspected CAD and an abnormal MPI study demonstrate no obstructive CAD on CCTA.

  18. Cortical thickness abnormalities associated with dyslexia, independent of remediation status.

    PubMed

    Ma, Yizhou; Koyama, Maki S; Milham, Michael P; Castellanos, F Xavier; Quinn, Brian T; Pardoe, Heath; Wang, Xiuyuan; Kuzniecky, Ruben; Devinsky, Orrin; Thesen, Thomas; Blackmon, Karen

    2015-01-01

    Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the "reading network." Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience) remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT), surface area (SA), gray matter volume (GMV), and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1) persistent reading and spelling impairment; (2) remediated reading impairment (normal reading scores), and (3) remediated reading and spelling impairments (normal reading and spelling scores); and a control group of (4) typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same "double hit" of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status.

  19. Association between family history of mood disorders and clinical characteristics of bipolar disorder: results from the Brazilian bipolar research network.

    PubMed

    Berutti, Mariangeles; Nery, Fabiano G; Sato, Rodrigo; Scippa, Angela; Kapczinski, Flavio; Lafer, Beny

    2014-06-01

    To compare clinical characteristics of bipolar disorder (BD) in patients with and without a family history of mood disorders (FHMD) in a large sample from the Brazilian Research Network of Bipolar Disorders. Four-hundred eighty-eight DSM-IV BD patients participating in the Brazilian Research Network of Bipolar Disorders were included. Participants were divided between those with FHMD (n=230) and without FHMD (n=258). We compared these two groups on demographic and clinical variables and performed a logistic regression to identify which variables were most strongly associated with positive family history of mood disorders. BD patients with FHMD presented with significantly higher lifetime prevalence of any anxiety disorder, obsessive-compulsive disorder, social phobia, substance abuse, and were more likely to present history of suicide attempts, family history of suicide attempts and suicide, and more psychiatric hospitalizations than BD patients without FHMD. Logistic regression showed that the variables most strongly associated with a positive FHMD were any comorbid anxiety disorder, comorbid substance abuse, and family history of suicide. Cross-sectional study and verification of FHMD by indirect information. BD patients with FHMD differ from BD patients without FHMD in rates of comorbid anxiety disorder and substance abuse, number of hospitalizations and suicide attempts. As FHMD is routinely assessed in clinical practice, these findings may help to identify patients at risk for particular manifestations of BD and may point to a common, genetically determined neurobiological substrate that increases the risk of conditions such as comorbidities and suicidality in BD patients. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. Clinical Relevance of Trace Bands on Serum Electrophoresis in Patients Without a History of Gammopathy.

    PubMed

    Gwathmey, TanYa M; Willis, Monte S; Tatreau, Jason; Wang, Shaobin; McCudden, Christopher R

    2015-03-01

    Serum protein electrophoresis (SPE) and immunofixation is commonly used to screen for plasma cell dyscrasias. Interpretation of these tests is qualitative by nature and can yield trace, faint, or scarcely visible immunoglobulin bands (TFS), which can be difficult to classify. Whether these bands should be reported at all is challenging given their unknown clinical significance. In the present study, we retrospectively analyzed 14,036 physician-ordered protein SPE and immunofixation electrophoresis (IFE) tests on serum and urine specimens (from 4,091 patients) during the period of 2000-2010. We found that 17% of all IFE results evaluated for the presence of monoclonal gammopathies (2,389 out of 14,036) contained TFS bands, representing 4.2% (173 out of 4091) of all patients evaluated. Sixty of these patients (42%) had no previous history of gammopathy, and were clinically evaluated over a mean period of up to five years from the original diagnosis of plasma cell pathology. None of these patients had progressed to multiple myeloma, lymphoplasmacytic lymphoma, plasmacytoma, or leukemia. The remaining 82 patients (58%) had a previous history of gammopathy, but had not progressed to any symptomatic plasma cell dyscrasia. Evaluation of these patients was followed for a median period of 4.3 years, with a mean of 21.5 IFE tests per individual. These data suggest that for patients without a previous history of gammopathy, the presence of TFS bands on serum protein electrophoresis does not warrant frequent follow up investigation as commonly practiced. Routine follow up of patients with a prior history of gammopathy, conversely, are warranted and may contribute to overall survival with multiple treatment options now available. For those interpreting IFE results, it may be worth considering these data when composing comments regarding suggested repeat testing frequency by SPE/IFE or alternate test methods.

  1. Clinical Relevance of Trace Bands on Serum Electrophoresis in Patients Without a History of Gammopathy

    PubMed Central

    Gwathmey, TanYa M.; Willis, Monte S.; Tatreau, Jason; Wang, Shaobin; McCudden, Christopher R.

    2015-01-01

    Serum protein electrophoresis (SPE) and immunofixation is commonly used to screen for plasma cell dyscrasias. Interpretation of these tests is qualitative by nature and can yield trace, faint, or scarcely visible immunoglobulin bands (TFS), which can be difficult to classify. Whether these bands should be reported at all is challenging given their unknown clinical significance. In the present study, we retrospectively analyzed 14,036 physician-ordered protein SPE and immunofixation electrophoresis (IFE) tests on serum and urine specimens (from 4,091 patients) during the period of 2000-2010. We found that 17% of all IFE results evaluated for the presence of monoclonal gammopathies (2,389 out of 14,036) contained TFS bands, representing 4.2% (173 out of 4091) of all patients evaluated. Sixty of these patients (42%) had no previous history of gammopathy, and were clinically evaluated over a mean period of up to five years from the original diagnosis of plasma cell pathology. None of these patients had progressed to multiple myeloma, lymphoplasmacytic lymphoma, plasmacytoma, or leukemia. The remaining 82 patients (58%) had a previous history of gammopathy, but had not progressed to any symptomatic plasma cell dyscrasia. Evaluation of these patients was followed for a median period of 4.3 years, with a mean of 21.5 IFE tests per individual. These data suggest that for patients without a previous history of gammopathy, the presence of TFS bands on serum protein electrophoresis does not warrant frequent follow up investigation as commonly practiced. Routine follow up of patients with a prior history of gammopathy, conversely, are warranted and may contribute to overall survival with multiple treatment options now available. For those interpreting IFE results, it may be worth considering these data when composing comments regarding suggested repeat testing frequency by SPE/IFE or alternate test methods. PMID:27683487

  2. Clinical diagnosis of partial or complete anterior cruciate ligament tears using patients' history elements and physical examination tests.

    PubMed

    Décary, Simon; Fallaha, Michel; Belzile, Sylvain; Martel-Pelletier, Johanne; Pelletier, Jean-Pierre; Feldman, Debbie; Sylvestre, Marie-Pierre; Vendittoli, Pascal-André; Desmeules, François

    2018-01-01

    To assess the diagnostic validity of clusters combining history elements and physical examination tests to diagnose partial or complete anterior cruciate ligament (ACL) tears. Prospective diagnostic study. Orthopaedic clinics (n = 2), family medicine clinics (n = 2) and community-dwelling. Consecutive patients with a knee complaint (n = 279) and consulting one of the participating orthopaedic surgeons (n = 3) or sport medicine physicians (n = 2). Not applicable. History elements and physical examination tests performed independently were compared to the reference standard: an expert physicians' composite diagnosis including history elements, physical tests and confirmatory magnetic resonance imaging. Penalized logistic regression (LASSO) was used to identify history elements and physical examination tests associated with the diagnosis of ACL tear and recursive partitioning was used to develop diagnostic clusters. Diagnostic accuracy measures including sensitivity (Se), specificity (Sp), predictive values and positive and negative likelihood ratios (LR+/-) with associated 95% confidence intervals (CI) were calculated. Forty-three individuals received a diagnosis of partial or complete ACL tear (15.4% of total cohort). The Lachman test alone was able to diagnose partial or complete ACL tears (LR+: 38.4; 95%CI: 16.0-92.5). Combining a history of trauma during a pivot with a "popping" sensation also reached a high diagnostic validity for partial or complete tears (LR+: 9.8; 95%CI: 5.6-17.3). Combining a history of trauma during a pivot, immediate effusion after trauma and a positive Lachman test was able to identify individuals with a complete ACL tear (LR+: 17.5; 95%CI: 9.8-31.5). Finally, combining a negative history of pivot or a negative popping sensation during trauma with a negative Lachman or pivot shift test was able to exclude both partial or complete ACL tears (LR-: 0.08; 95%CI: 0.03-0.24). Diagnostic clusters combining history elements and physical

  3. Clinical diagnosis of partial or complete anterior cruciate ligament tears using patients' history elements and physical examination tests

    PubMed Central

    Fallaha, Michel; Belzile, Sylvain; Martel-Pelletier, Johanne; Pelletier, Jean-Pierre; Feldman, Debbie; Sylvestre, Marie-Pierre; Vendittoli, Pascal-André; Desmeules, François

    2018-01-01

    Objective To assess the diagnostic validity of clusters combining history elements and physical examination tests to diagnose partial or complete anterior cruciate ligament (ACL) tears. Design Prospective diagnostic study. Settings Orthopaedic clinics (n = 2), family medicine clinics (n = 2) and community-dwelling. Participants Consecutive patients with a knee complaint (n = 279) and consulting one of the participating orthopaedic surgeons (n = 3) or sport medicine physicians (n = 2). Interventions Not applicable. Main outcome measures History elements and physical examination tests performed independently were compared to the reference standard: an expert physicians’ composite diagnosis including history elements, physical tests and confirmatory magnetic resonance imaging. Penalized logistic regression (LASSO) was used to identify history elements and physical examination tests associated with the diagnosis of ACL tear and recursive partitioning was used to develop diagnostic clusters. Diagnostic accuracy measures including sensitivity (Se), specificity (Sp), predictive values and positive and negative likelihood ratios (LR+/-) with associated 95% confidence intervals (CI) were calculated. Results Forty-three individuals received a diagnosis of partial or complete ACL tear (15.4% of total cohort). The Lachman test alone was able to diagnose partial or complete ACL tears (LR+: 38.4; 95%CI: 16.0–92.5). Combining a history of trauma during a pivot with a “popping” sensation also reached a high diagnostic validity for partial or complete tears (LR+: 9.8; 95%CI: 5.6–17.3). Combining a history of trauma during a pivot, immediate effusion after trauma and a positive Lachman test was able to identify individuals with a complete ACL tear (LR+: 17.5; 95%CI: 9.8–31.5). Finally, combining a negative history of pivot or a negative popping sensation during trauma with a negative Lachman or pivot shift test was able to exclude both partial or complete ACL tears (LR

  4. Abnormalities of Lipoprotein Levels in Liver Cirrhosis: Clinical Relevance.

    PubMed

    Privitera, Graziella; Spadaro, Luisa; Marchisello, Simona; Fede, Giuseppe; Purrello, Francesco

    2018-01-01

    Progressive lipoprotein impairment occurs in liver cirrhosis and is associated with increased morbidity and mortality. The present review aims to summarize the current evidence regarding the prognostic value of lipoprotein abnormalities in liver cirrhosis and to address the need of a better prognostic stratification of patients, including lipoprotein profile assessment. Low levels of lipoproteins are usual in cirrhosis. Much evidence supports the prognostic role of hypolipidemia in cirrhotic patients. In particular, hypocholesterolemia represents an independent predictor of survival in cirrhosis. In cirrhotic patients, lipoprotein impairment is associated with several complications: infections, malnutrition, adrenal function, and spur cell anemia. Alterations of liver function are associated with modifications of circulating lipids. Decreased levels of lipoproteins significantly impact the survival of cirrhotic patients and play an important role in the pathogenesis of some cirrhosis-related complications.

  5. Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

    PubMed Central

    Alston, Robert; Wright, Neville B; Chandler, Kate; Bonney, Denise; Wynn, Robert F; Will, Andrew M; Punekar, Maqsood; Loughran, Sean; Kilday, John-Paul; Schindler, Detlev; Patel, Leena; Meyer, Stefan

    2015-01-01

    Objective: Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features. Methods: A review of the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and age-matched controls were determined. Results: Abnormalities were identified in 18 (90%) patients with FA, the commonest being a small pituitary (68%, p < 0.01 females and p < 0.001 males). In five cases (25%, p = 0.02), the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p = 0.01) including Chiari I malformation (n = 3), Dandy–Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30%, p = 0.01) had morphological structural variation of the corpus callosum (CC). Conclusion: The incidence of central nervous system (CNS) abnormalities in FA is higher than previously reported, with a midline predominance that points to impact in the early stages of CNS development. MRI brain imaging is important for endocrine assessment and pre-transplant evaluation and can make an important contribution to clinical decision-making. Advances in knowledge: The incidence of brain structural abnormalities in FA is higher than previously reported, with abnormalities of the posterior fossa, CC and pituitary being common. There is an association with gender and reduction in pituitary size which does not strongly correlate with biochemically evident endocrine abnormality. PMID:26369989

  6. Influence of history of head trauma and epilepsy on delinquents in a juvenile classification home.

    PubMed

    Miura, Hideki; Fujiki, Masumi; Shibata, Arihiro; Ishikawa, Kenji

    2005-12-01

    Juvenile delinquents often show poor impulse control and cognitive abnormalities, which may be related to disturbances in brain development due to head trauma and/or epilepsy. The aim of the present study was to examine the influence of head trauma and/or epilepsy on delinquent behavior. We examined 1,336 juvenile delinquents (1,151 males and 185 females) who had been admitted to the Nagoya Juvenile Classification Home, Aichi, Japan. Among them, 52 subjects with a history of epilepsy, convulsion or loss of consciousness, head injury requiring neurological assessment and/or treatment, or neurosurgical operation (head trauma/epilepsy group), were examined by electroencephalography and compared to subjects without these histories (control group) with respect to types of crime, history of amphetamine use, psychiatric treatment, child abuse, and family history. Among the 52 subjects, 43 (82.7%) showed abnormal findings. The head trauma/epilepsy group had significantly higher rates of psychiatric treatment (P<0.0001, OR=16.852, 95% CI=8.068-35.199) and family history of drug abuse (P<0.05, OR=2.303, 95% CI=1.003-5.290). Furthermore, the percentage of members who were sent to juvenile training school by the family court was significantly higher in the head trauma/epilepsy group (72.5%) than in the control group (38.9%, P<0.0001). The juvenile delinquents who had a history of head trauma and/or epilepsy showed a high prevalence of electroencephalograph abnormality, and higher rates of psychiatric treatment and family history of drug abuse, and were more likely to be sent to juvenile training school by the family court.

  7. Practical Management of Patients with a History of Immediate Hypersensitivity to Common non-Beta-Lactam Drugs.

    PubMed

    Macy, Eric

    2016-01-01

    Immediate hypersensitivity reactions to medications are among the most feared adverse drug reactions, because of their close association with anaphylaxis. This review discusses a practical management approach for patients with a history of an immediate hypersensitivity to a non-beta-lactam medication, where reexposure to the implicated, or similar, medication is clinically necessary. Mechanisms associated with severe immediate hypersensitivity reactions include IgE-mediated mast cell activation, complement-mediated mast cell activation, and direct mast cell activation. Immediate hypersensitivity reactions may also be mediated by vasodilators, other pharmacologic mechanisms, or be secondary to underlying patient-specific biochemical abnormalities such as endocrine tumors or chronic spontaneous urticaria. The key features in the reaction history and the biochemistry of the implicated medication are discussed. Most individuals with a history of immediate hypersensitivity to a medication, who require reuse of that drug, can be safely retreated with a therapeutic course of the implicated drug after a full-dose challenge, graded challenge, or desensitization, with or without premedication and/or any preliminary diagnostic testing, depending on the specific situation.

  8. Clinical findings associated with cardiovascular autonomic dysfunction in adult sickle cell anaemia patients.

    PubMed

    Oguanobi, Nelson I; Onwubere, Basden J C; Anisiuba, Benedict C; Ike, Samuel O; Ejim, Emmanuel C; Ibegbulam, Obike G

    2012-04-01

    Involvement of the cardiovascular autonomic nervous system in various diseases is often associated with increased morbidity and mortality. The objective of this study was to examine the clinical features associated with cardiovascular autonomic neuropathy (CAN) in adult Nigerians with sickle cell anaemia. A cross-sectional study was carried out on 62 steady state sickle cell anaemia patients recruited from the adult out-patient clinic. Cardiovascular autonomic dysfunction was determined based on abnormal values in at least two of five non-invasive tests: Valsalva manoeuvre, heart rate variation during deep breathing, heart rate response to standing, blood pressure response to sustained handgrip, and blood pressure response to standing. All the subjects were initially evaluated in the clinic for symptoms of cardiovascular disease and peripheral vascular disease, and then clinically examined to assess their cardiovascular and neurological status at rest. Out of the 44 patients with cardiovascular autonomic neuropathy 23 were males, while 21 were females. The mean ages were 28.3 +/- 5.8 y for patients with CAN and 28.0 +/- 5.0 y for patients without CAN (P = 0.817). Sickle cell anaemia patients with CAN had significantly lower ankle systolic blood pressure, reduced ankle brachial blood pressure index, mean arterial blood pressure and haematocrit than patients without CAN. Of all the variables evaluated leg ulcers, postural dizziness, erectile dysfunction in men, and history of recurrent acute chest syndromes were found significantly more in patients with CAN than without. Clinical abnormalities tend to worsen with increasing degree of cardiovascular autonomic dysfunction. Significant cardiac morbidity is associated with abnormal cardiovascular autonomic function in sickle cell anaemia.

  9. Impact of early personal-history characteristics on the Pace of Aging: implications for clinical trials of therapies to slow aging and extend healthspan.

    PubMed

    Belsky, Daniel W; Caspi, Avshalom; Cohen, Harvey J; Kraus, William E; Ramrakha, Sandhya; Poulton, Richie; Moffitt, Terrie E

    2017-08-01

    Therapies to extend healthspan are poised to move from laboratory animal models to human clinical trials. Translation from mouse to human will entail challenges, among them the multifactorial heterogeneity of human aging. To inform clinical trials about this heterogeneity, we report how humans' pace of biological aging relates to personal-history characteristics. Because geroprotective therapies must be delivered by midlife to prevent age-related disease onset, we studied young-adult members of the Dunedin Study 1972-73 birth cohort (n = 954). Cohort members' Pace of Aging was measured as coordinated decline in the integrity of multiple organ systems, by quantifying rate of decline across repeated measurements of 18 biomarkers assayed when cohort members were ages 26, 32, and 38 years. The childhood personal-history characteristics studied were known predictors of age-related disease and mortality, and were measured prospectively during childhood. Personal-history characteristics of familial longevity, childhood social class, adverse childhood experiences, and childhood health, intelligence, and self-control all predicted differences in cohort members' adulthood Pace of Aging. Accumulation of more personal-history risks predicted faster Pace of Aging. Because trials of anti-aging therapies will need to ascertain personal histories retrospectively, we replicated results using cohort members' retrospective personal-history reports made in adulthood. Because many trials recruit participants from clinical settings, we replicated results in the cohort subset who had recent health system contact according to electronic medical records. Quick, inexpensive measures of trial participants' early personal histories can enable clinical trials to study who volunteers for trials, who adheres to treatment, and who responds to anti-aging therapies. © 2017 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  10. Lung volumes and emphysema in smokers with interstitial lung abnormalities.

    PubMed

    Washko, George R; Hunninghake, Gary M; Fernandez, Isis E; Nishino, Mizuki; Okajima, Yuka; Yamashiro, Tsuneo; Ross, James C; Estépar, Raúl San José; Lynch, David A; Brehm, John M; Andriole, Katherine P; Diaz, Alejandro A; Khorasani, Ramin; D'Aco, Katherine; Sciurba, Frank C; Silverman, Edwin K; Hatabu, Hiroto; Rosas, Ivan O

    2011-03-10

    Cigarette smoking is associated with emphysema and radiographic interstitial lung abnormalities. The degree to which interstitial lung abnormalities are associated with reduced total lung capacity and the extent of emphysema is not known. We looked for interstitial lung abnormalities in 2416 (96%) of 2508 high-resolution computed tomographic (HRCT) scans of the lung obtained from a cohort of smokers. We used linear and logistic regression to evaluate the associations between interstitial lung abnormalities and HRCT measurements of total lung capacity and emphysema. Interstitial lung abnormalities were present in 194 (8%) of the 2416 HRCT scans evaluated. In statistical models adjusting for relevant covariates, interstitial lung abnormalities were associated with reduced total lung capacity (-0.444 liters; 95% confidence interval [CI], -0.596 to -0.292; P<0.001) and a lower percentage of emphysema defined by lung-attenuation thresholds of -950 Hounsfield units (-3%; 95% CI, -4 to -2; P<0.001) and -910 Hounsfield units (-10%; 95% CI, -12 to -8; P<0.001). As compared with participants without interstitial lung abnormalities, those with abnormalities were more likely to have a restrictive lung deficit (total lung capacity <80% of the predicted value; odds ratio, 2.3; 95% CI, 1.4 to 3.7; P<0.001) and were less likely to meet the diagnostic criteria for chronic obstructive pulmonary disease (COPD) (odds ratio, 0.53; 95% CI, 0.37 to 0.76; P<0.001). The effect of interstitial lung abnormalities on total lung capacity and emphysema was dependent on COPD status (P<0.02 for the interactions). Interstitial lung abnormalities were positively associated with both greater exposure to tobacco smoke and current smoking. In smokers, interstitial lung abnormalities--which were present on about 1 of every 12 HRCT scans--were associated with reduced total lung capacity and a lesser amount of emphysema. (Funded by the National Institutes of Health and the Parker B. Francis Foundation

  11. The association of foot arch posture and prior history of shoulder or elbow surgery in elite-level baseball pitchers.

    PubMed

    Feigenbaum, Luis A; Roach, Kathryn E; Kaplan, Lee D; Lesniak, Bryson; Cunningham, Sean

    2013-11-01

    Case-control. The specific aim of this study was to examine the association between abnormal foot arch postures and a history of shoulder or elbow surgery in baseball pitchers. Pitching a baseball generates forces throughout the musculoskeletal structures of the upper and lower limbs. Structures such as the longitudinal arch of the foot are adaptable to stresses over time. Repeated pitching-related stresses may contribute to acquiring abnormal foot arch postures. Inversely, congenitally abnormal foot arch posture may lead to altered stresses of the upper limb during pitching. A convenience sample of 77 pitchers was recruited from a Division I university team and a professional baseball franchise. Subjects who had a history of shoulder or elbow surgery to the pitching arm were classified as cases. Subjects who met the criteria for classification of pes planus or pes cavus based on longitudinal arch angle were classified as having abnormal foot arch posture. Odds ratios were calculated to examine the association between abnormal foot arch posture and pitching-arm injury requiring surgery. Twenty-three subjects were classified as cases. The odds of being a case were 3.4 (95% confidence interval: 1.2, 9.6; P = .02) times greater for subjects with abnormal foot arch posture and 2.9 (95% confidence interval: 1.0, 8.1; P = .04) times greater for subjects with abnormal foot posture on the lunge leg. Abnormal foot arch posture and a surgical history in the pitching shoulder or elbow may be associated. Because the foot and its arches are adaptable and change over time, the pathomechanics of this association should be further explored.

  12. The anatomy and development of normal and abnormal coronary arteries.

    PubMed

    Spicer, Diane E; Henderson, Deborah J; Chaudhry, Bill; Mohun, Timothy J; Anderson, Robert H

    2015-12-01

    At present, there is significant interest in the morphology of the coronary arteries, not least due to the increasingly well-recognised association between anomalous origin of the arteries and sudden cardiac death. Much has also been learnt over the last decade regarding the embryology of the arteries. In this review, therefore, we provide a brief introduction into the recent findings regarding their development. In particular, we emphasise that new evidence, derived using the developing murine heart, points to the arterial stems growing out from the adjacent sinuses of the aortic root, rather than the arteries growing in, as is currently assumed. As we show, the concept of outgrowth provides an excellent explanation for several of the abnormal arrangements encountered in the clinical setting. Before summarising these abnormal features, we draw attention to the need to describe the heart in an attitudinally appropriate manner, following the basic rule of human anatomy, rather than describing the cardiac components with the heart in the "Valentine" orientation. We then show how the major abnormalities involving the coronary arteries in humans can be summarised in terms of abnormal origin from the pulmonary circulation, abnormal aortic origin, or fistulous communications between the coronary arteries and the cardiac cavities. In the case of abnormal aortic origin, we highlight those malformations known to be associated with sudden cardiac death.

  13. Abnormal Neural Activation to Faces in the Parents of Children with Autism.

    PubMed

    Yucel, G H; Belger, A; Bizzell, J; Parlier, M; Adolphs, R; Piven, J

    2015-12-01

    Parents of children with an autism spectrum disorder (ASD) show subtle deficits in aspects of social behavior and face processing, which resemble those seen in ASD, referred to as the "Broad Autism Phenotype " (BAP). While abnormal activation in ASD has been reported in several brain structures linked to social cognition, little is known regarding patterns in the BAP. We compared autism parents with control parents with no family history of ASD using 2 well-validated face-processing tasks. Results indicated increased activation in the autism parents to faces in the amygdala (AMY) and the fusiform gyrus (FG), 2 core face-processing regions. Exploratory analyses revealed hyper-activation of lateral occipital cortex (LOC) bilaterally in autism parents with aloof personality ("BAP+"). Findings suggest that abnormalities of the AMY and FG are related to underlying genetic liability for ASD, whereas abnormalities in the LOC and right FG are more specific to behavioral features of the BAP. Results extend our knowledge of neural circuitry underlying abnormal face processing beyond those previously reported in ASD to individuals with shared genetic liability for autism and a subset of genetically related individuals with the BAP. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  14. Abnormal Uterine Bleeding FAQ

    MedlinePlus

    ... Abnormal Uterine Bleeding • What is a normal menstrual cycle? • When is bleeding abnormal? • At what ages is ... abnormal bleeding? •Glossary What is a normal menstrual cycle? The normal length of the menstrual cycle is ...

  15. Clinical characteristics of patients with tinnitus evaluated with the Tinnitus Sample Case History Questionnaire in Japan: A case series

    PubMed Central

    Kojima, Takashi; Kanzaki, Sho; Oishi, Naoki; Ogawa, Kaoru

    2017-01-01

    Background The Tinnitus Sample Case History Questionnaire was determined as a standardized questionnaire for obtaining patient case histories and for characterizing patients into subgroups at the Tinnitus Research Initiative in 2006. In this study, we developed a Japanese version of this questionnaire for evaluating the clinical characteristics of patients with tinnitus. The Japanese version of the questionnaire will be available for evaluating treatments for tinnitus and for comparing data on tinnitus in research centers. Aims/Objectives To evaluate the clinical characteristics of patients with tinnitus in Japan using a newly developed Japanese version of Tinnitus Sample Case History Questionnaire. Study design This was a prospective study based on patient records. Setting University hospitals, general hospitals, and clinics. Subjects and methods We collected patient data using a Japanese translated version of the Tinnitus Sample Case History Questionnaire. In total, 584 patients who visited our institutions in Japan between August 2012 and March 2014 were included (280 males and 304 females; age 13–92 years; mean age, 60.8). We examined patients after dividing them into two groups according to the presence or absence of hyperacusis. The collected results were compared with those from the Tinnitus Research Initiative database. Results Compared with the TRI database, there were significantly more elderly female patients and fewer patients with trauma-associated tinnitus. There was a statistically lower ratio of patients with hyperacusis. We found that patients with tinnitus in addition to hyperacusis had greater tinnitus severity and exhibited higher rates of various complications. Conclusion The Japanese version of the Tinnitus Sample Case History Questionnaire developed in this study can be a useful tool for evaluating patients with tinnitus in Japan. The results of this multicenter study reflect the characteristics of patients with tinnitus who require medical

  16. Clinical characteristics of patients with tinnitus evaluated with the Tinnitus Sample Case History Questionnaire in Japan: A case series.

    PubMed

    Kojima, Takashi; Kanzaki, Sho; Oishi, Naoki; Ogawa, Kaoru

    2017-01-01

    The Tinnitus Sample Case History Questionnaire was determined as a standardized questionnaire for obtaining patient case histories and for characterizing patients into subgroups at the Tinnitus Research Initiative in 2006. In this study, we developed a Japanese version of this questionnaire for evaluating the clinical characteristics of patients with tinnitus. The Japanese version of the questionnaire will be available for evaluating treatments for tinnitus and for comparing data on tinnitus in research centers. To evaluate the clinical characteristics of patients with tinnitus in Japan using a newly developed Japanese version of Tinnitus Sample Case History Questionnaire. This was a prospective study based on patient records. University hospitals, general hospitals, and clinics. We collected patient data using a Japanese translated version of the Tinnitus Sample Case History Questionnaire. In total, 584 patients who visited our institutions in Japan between August 2012 and March 2014 were included (280 males and 304 females; age 13-92 years; mean age, 60.8). We examined patients after dividing them into two groups according to the presence or absence of hyperacusis. The collected results were compared with those from the Tinnitus Research Initiative database. Compared with the TRI database, there were significantly more elderly female patients and fewer patients with trauma-associated tinnitus. There was a statistically lower ratio of patients with hyperacusis. We found that patients with tinnitus in addition to hyperacusis had greater tinnitus severity and exhibited higher rates of various complications. The Japanese version of the Tinnitus Sample Case History Questionnaire developed in this study can be a useful tool for evaluating patients with tinnitus in Japan. The results of this multicenter study reflect the characteristics of patients with tinnitus who require medical care in Japan. Our data provides a preliminary basis for an international comparison of

  17. Clinical features and psychiatric comorbidities of borderline personality disorder patients with versus without a history of suicide attempt.

    PubMed

    Sher, Leo; Fisher, Amanda M; Kelliher, Caitlin H; Penner, Justin D; Goodman, Marianne; Koenigsberg, Harold W; New, Antonia S; Siever, Larry J; Hazlett, Erin A

    2016-12-30

    Patients with borderline personality disorder (BPD) are at high risk for suicidal behavior. However, many BPD patients do not engage in suicidal behavior. In this study, we compared clinical features of BPD patients with or without a history of suicide attempts and healthy volunteers. Compared with healthy volunteers, both BPD groups had higher Affective Lability Scale (ALS), ALS - Depression-Anxiety Subscale, Barratt Impulsivity Scale (BIS), and Lifetime History of Aggression (LHA) scores and were more likely to have a history of temper tantrums. BPD suicide attempters had higher ALS, ALS - Depression-Anxiety Subscale and LHA scores and were more likely to have a history of non-suicidal self-injury or temper tantrums compared to BPD non-attempters. Also, BPD suicide attempters were more likely to have a history of comorbid major depressive disorder and less likely to have comorbid narcissistic personality disorder (NPD) in comparison to BPD non-attempters. About 50% of study participants in each BPD group had a history of comorbid substance use disorder (SUD). Our study indicates that BPD patients with a history of suicide attempt are more aggressive, affectively dysregulated and less narcissistic than BPD suicide non-attempters. Published by Elsevier Ireland Ltd.

  18. Clinical utility of subtyping binge eating disorder by history of anorexia or bulimia nervosa in a treatment sample.

    PubMed

    Utzinger, Linsey M; Mitchell, James E; Cao, Li; Crosby, Ross D; Crow, Scott J; Wonderlich, Stephen A; Peterson, Carol B

    2015-09-01

    This study examined whether having a history of anorexia nervosa (AN) or bulimia nervosa (BN) is associated with response to treatment in adults with binge eating disorder (BED). Data from 189 adults diagnosed with BED who were randomly assigned to one of three group cognitive-behavioral (CBT) treatments were analyzed to compare those with and without a history of AN/BN. A total of 16% of the sample had a history of AN/BN. The BED subgroup with a history of AN/BN presented with higher rates of mood disorders and greater eating-related symptom severity at baseline. Participants with a history of AN/BN also had higher global eating disorder (ED) symptoms at end of treatment (EOT), and more frequent objective binge-eating episodes at EOT and 12-month follow-up. These findings suggest that in adults with BED, a history of AN/BN is predictive of greater eating-related symptom severity following group-based CBT and poorer short- and long-term binge-eating outcomes. These findings suggest that considering ED history in the treatment of adults with BED may be clinically useful. © 2015 Wiley Periodicals, Inc.

  19. A Comparison of the Natural History of HPV Infection and Cervical Abnormalities among HIV-positive and HIV-negative Women in Senegal, Africa

    PubMed Central

    Whitham, Hilary K.; Hawes, Stephen E.; Chu, Haitao; Oakes, J. Michael; Lifson, Alan R.; Kiviat, Nancy B.; Sow, Papa Salif; Gottlieb, Geoffrey S.; Ba, Selly; Sy, Marie P.; Kulasingam, Shalini L.

    2017-01-01

    Background There is evidence of an interaction between human immunodeficiency virus (HIV) and human papillomavirus (HPV) resulting in increased HPV-associated morbidity and cancer mortality among HIV-positive women. This study aims to determine how the natural history of cervical HPV infection differs by HIV status. Methods A total of 1,320 women (47% were positive for HIV-1 and/or HIV-2) were followed for an average of two years in Senegal, West Africa between 1994 and 2010. Cytology (with a sub-sample of histology) and HPV DNA testing were performed at approximately 4-month intervals yielding data from over 7,900 clinic visits. Competing risk modeling was used to estimate rates for transitioning between three clinically relevant natural history stages: Normal, HPV, and HSIL (high-grade squamous intraepithelial lesions). Among HIV-positive women, exploratory univariate analyses were conducted examining the impact of HPV type, infection with multiple HPV types, HIV type, CD4+ count, and age. Results HIV-positive women had higher rates of progression and lower rates of regression compared to HIV-negative women (i.e. adverse transitions). HIV-positive women had a 2.55 (95% CI: 1.69–3.86; P < 0.0001) times higher rate of progression from HPV to HSIL than HIV-negative women (with 24-month absolute risks of 0.18 and 0.07, respectively). Among HIV-positive women, HPV-16/18 infection and CD4+ count <200/mm3 were associated with adverse transitions. Conclusions Adverse HIV effects persist throughout HPV natural history stages. Impact In the limited-resource setting of sub-Saharan Africa where cervical cancer screening is not widely available, the high-risk population of HIV-positive women may be ideal for targeted screening. PMID:28515108

  20. A Comparison of the Natural History of HPV Infection and Cervical Abnormalities among HIV-Positive and HIV-Negative Women in Senegal, Africa.

    PubMed

    Whitham, Hilary K; Hawes, Stephen E; Chu, Haitao; Oakes, J Michael; Lifson, Alan R; Kiviat, Nancy B; Sow, Papa Salif; Gottlieb, Geoffrey S; Ba, Selly; Sy, Marie P; Kulasingam, Shalini L

    2017-06-01

    Background: There is evidence of an interaction between HIV and human papillomavirus (HPV) resulting in increased HPV-associated morbidity and cancer mortality among HIV-positive women. This study aims to determine how the natural history of cervical HPV infection differs by HIV status. Methods: A total of 1,320 women (47% were positive for HIV-1 and/or HIV-2) were followed for an average of two years in Senegal, West Africa between 1994 and 2010. Cytology (with a sub-sample of histology) and HPV DNA testing were performed at approximately 4-month intervals yielding data from over 7,900 clinic visits. Competing risk modeling was used to estimate rates for transitioning between three clinically relevant natural history stages: Normal, HPV, and HSIL (high-grade squamous intraepithelial lesions). Among HIV-positive women, exploratory univariate analyses were conducted examining the impact of HPV type, infection with multiple HPV types, HIV type, CD4 + count, and age. Results: HIV-positive women had higher rates of progression and lower rates of regression compared with HIV-negative women (i.e., adverse transitions). HIV-positive women had a 2.55 [95% confidence interval (CI), 1.69-3.86; P < 0.0001] times higher rate of progression from HPV to HSIL than HIV-negative women (with 24-month absolute risks of 0.18 and 0.07, respectively). Among HIV-positive women, HPV-16/18 infection and CD4 + count <200/mm 3 were associated with adverse transitions. Conclusions: Adverse HIV effects persist throughout HPV natural history stages. Impact: In the limited-resource setting of sub-Saharan Africa where cervical cancer screening is not widely available, the high-risk population of HIV-positive women may be ideal for targeted screening. Cancer Epidemiol Biomarkers Prev; 26(6); 886-94. ©2017 AACR . ©2017 American Association for Cancer Research.

  1. Clinical and metabolic evaluation of patients with history of renal calculi in Qazvin, Iran.

    PubMed

    Charkhchian, Maliheh; Samani, Simin; Merat, Ehsan

    2015-12-01

    Nephrolithiasis is a common clinical disorder with significant health and economic burden. We conducted this study to evaluate clinical and metabolic parameters in adult patients with history of renal calculi. A total of 213 patients with history of nephrolithiasis participated in this study. Evaluation included the measurement of serum calcium, uric acid, parathormone, renal function tests, urinalysis, and urinary tests for cystinuria. Also, parameters such as volume, creatinine, calcium, uric acid, citrate, and oxalate levels were measured on 24-h urine. All patients underwent urinary tract system sonography. Of total patients, 52% were males and 48% females. The mean age was 45.16 ± 13.16 years. Also, 51.2% of subjects had positive family history of nephrolithiasis. The mean body mass index was (26.8 ± 4.2) kg/m(2). The mean 24-h urine biochemical profiles were volume (1,748 ± 860 ml), Ca (183 ± 115), uric acid (544 ± 220), citrate (490 ± 351), and oxalate (17.1 ± 15.3) mg/day; urine calcium to creatinine ratio (0.15 ± 0.10) mg/mg, and urine calcium to weight ratio (2.4 ± 1.7) mg/kg. While there were weak positive correlations between the body mass index and urinary calcium (r = 0.101, P < 0.001) and uric acid (r = 0.200, P < 0.001), a weak negative correlation with urine pH (r = -0.104, P < 0.001) was found. Urine calcium, uric acid, and oxalate excretion were low in our patients while urine citrate was relatively high. Higher BMI maybe a risk factor for nephrolithiasis.

  2. Clinical features of and risk factors for major depression with history of postpartum episodes in Han Chinese women: A retrospective study.

    PubMed

    Yang, Fuzhong; Gardner, Charles O; Bigdeli, Tim; Gao, Jingfang; Zhang, Zhen; Tao, Ming; Liu, Ying; Li, Youhui; Wang, Gang; Shi, Jianguo; Gao, Chengge; Zhang, Kerang; Li, Kan; Wang, Xumei; Liu, Lanfen; Sun, Jing; Du, Bo; Shi, Shenxun; Zhang, Jingbei; Wu, Wenyuan; Wang, Xueyi; Shen, Jianhua; Liu, Tiebang; Gu, Danhua; Liang, Wei; Deng, Hong; Pan, Jiyang; Yang, Lijun; Jian, Hu; Jiang, Guoqin; Meng, Huaqing; Miao, Guodong; Li, Yi; Hu, Chunmei; Huang, Guoping; Zhang, Yutang; Chen, Yunchun; Ha, Baowei; Gao, Shu; Fang, Xiang; Mei, Qiyi; Hong, Xiaohong; Yang, Donglin; Liu, Tieqiao; Fengyu, Yu; Zhong, Hui; Sang, Hong; Chen, Guibing; Cai, Min; Song, Yan; Dong, Jicheng; Shen, Zhenmin; Zhang, Wei; Wang, Xiaoping; Pan, Runde; Liu, Xiaojuan; Li, Yi; Liu, Zhengrong; Zhang, Qiwen; Li, Gongying; Flint, Jonathan; Kendler, Kenneth S

    2015-09-01

    We sought to investigate the clinical features of and risk factors for recurrent major depression (MD) with history of postpartum episodes (PPD) in Han Chinese women and the differences between first-onset postpartum MD (MD that has its first lifetime depressive episode in the postpartum period) and first-onset non-postpartum MD (MD with history of PPD and has its first lifetime depressive episode in a period other than postpartum). Data were derived from the China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) study (N=6017 cases) and analyzed in two steps. We first examined the clinical features of and risk factors for MD patients with (N=981) or without (N=4410) a history of PPD. We then compared the differences between first-onset postpartum MD (N=583) and first-onset non-postpartum MD (N=398) in those with a history of PPD. Linear, logistic and multinomial logistic models were employed to measure the associations. A history of PPD was associated with more guilt feelings, greater psychiatric comorbidity, higher neuroticism, earlier onset and more chronicity (OR 0.2-2.8). Severe premenstrual symptoms (PMS) and more childbirths increased the risk of PPD, as did a family history of MD, childhood sexual abuse, stressful life events and lack of social support (OR 1.1-1.3). In the MD with history of PPD subsample, first-onset postpartum MD was associated with fewer recurrent major depressive episodes, less psychiatric comorbidity, lower neuroticism, less severe PMS and fewer disagreements with their husbands (OR 0.5-0.8), but more childbirths (OR 1.2). Data were obtained retrospectively through interview and recall bias may have affected the results. MD with history of PPD in Han Chinese women is typically chronic and severe, with particular risk factors including severe PMS and more childbirths. First-onset postpartum MD and first-onset non-postpartum MD can be partly differentiated by their clinical features

  3. A radical proposition: the brief but exceptional history of the Seattle school clinic, 1914-21.

    PubMed

    Woolworth, Stephen

    2013-04-01

    This article examines the history of the Seattle school clinic (1914-21) and the efforts of public school administrators to institutionalize a full-service medical program for poor and working class children. At its height, thirty-six volunteer physicians and thirteen partially paid dentists organized within nine departments performed a range of diagnostic and "corrective" surgical procedures, including tonsillectomies, circumcisions, and eye surgeries. These practices were not funded by other public school systems across the United States, almost all of which delineated between prevention and treatment services. This article explains the exceptional nature of the clinic, examines the institutional tensions instigated by the expression of medical authority within the schools, and considers how clinic technologies influenced state-school-child relations.

  4. The lipid accumulation product as a useful index for identifying abnormal glucose regulation in young Korean women.

    PubMed

    Oh, J-Y; Sung, Y-A; Lee, H J

    2013-04-01

    The lipid accumulation product, a combination of waist circumference and triglycerides concentration, has been suggested as a better marker for abnormal glucose regulation than BMI. We aimed to compare the lipid accumulation product and BMI as useful markers for abnormal glucose regulation in young Korean women. The lipid accumulation product was calculated using the formula [waist circumference (cm) - 58] × triglycerides (mmol/l). Glucose tolerance status was determined using a 75-g oral glucose tolerance test in 2810 Korean women aged 18-39 years from the general population. The prevalence of abnormal glucose regulation was 6.8% (isolated impaired fasting glucose 1.8%, isolated impaired glucose tolerance 4.0%; impaired fasting glucose + impaired glucose tolerance 0.4% and diabetes mellitus 0.6%). According to the quintile distributions of the lipid accumulation product and BMI, women with a lipid accumulation product quintile greater than their BMI quintile exhibited significantly greater areas under the curve and higher levels of 2-h post-load glucose, insulin, homeostasis model analysis of insulin resistance and lipid profiles than did women with a BMI quintile greater than their lipid accumulation product quintile. Multiple logistic regression revealed that the lipid accumulation product exhibited a higher odds ratio for abnormal glucose regulation than did BMI after adjusting for age, systolic blood pressure, HDL cholesterol, previous history of gestational diabetes and family history of diabetes (odds ratios 3.5 and 2.6 of the highest vs. the lowest quintiles of lipid accumulation product and BMI, respectively). The lipid accumulation product could be useful for identifying the young Korean women with abnormal glucose regulation. © 2012 The Authors. Diabetic Medicine © 2012 Diabetes UK.

  5. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

    PubMed

    Majamaa-Voltti, Kirsi; Peuhkurinen, Keijo; Kortelainen, Marja-Leena; Hassinen, Ilmo E; Majamaa, Kari

    2002-08-01

    Tissues that depend on aerobic energy metabolism suffer most in diseases caused by mutations in mitochondrial DNA (mtDNA). Cardiac abnormalities have been described in many cases, but their frequency and clinical spectrum among patients with mtDNA mutations is unknown. Thirty-nine patients with the 3243A>G mtDNA mutation were examined, methods used included clinical evaluation, electrocardiogram, Holter recording and echocardiography. Autopsy reports on 17 deceased subjects were also reviewed. The degree of 3243A>G mutation heteroplasmy was determined using an Apa I restriction fragment analysis. Better hearing level (BEHL0.5-4 kHz) was used as a measure of the clinical severity of disease. Left ventricular hypertrophy (LVH) was diagnosed in 19 patients (56%) by echocardiography and in six controls (15%) giving an odds ratio of 7.5 (95% confidence interval; 1.74-67). The dimensions of the left ventricle suggested a concentric hypertrophy. Left ventricular systolic or diastolic dysfunction was observed in 11 patients. Holter recording revealed frequent ventricular extrasystoles (>10/h) in five patients. Patients with LVH differed significantly from those without LVH in BEHL0.5-4 kHz, whereas the contribution of age or the degree of the mutant heteroplasmy in skeletal muscle to the risk of LVH was less remarkable. Structural and functional abnormalities of the heart were common in patients with 3243A>G. The risk of LVH was related to the clinical severity of the phenotype, and to a lesser degree to age, suggesting that patients presenting with any symptoms from the mutation should also be evaluated for cardiac abnormalities.

  6. A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

    PubMed Central

    Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne

    2018-01-01

    Purpose In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. Methods We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. Results Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. Conclusion Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS. PMID:28617417

  7. The Impact of Clinical History on the Threshold Estimation of Auditory Brainstem Response Results for Infants

    ERIC Educational Resources Information Center

    Zaitoun, Maha; Cumming, Steven; Purcell, Alison; O'Brien, Katie

    2017-01-01

    Purpose: This study assesses the impact of patient clinical history on audiologists' performance when interpreting auditory brainstem response (ABR) results. Method: Fourteen audiologists' accuracy in estimating hearing threshold for 16 infants through interpretation of ABR traces was compared on 2 occasions at least 5 months apart. On the 1st…

  8. Eye movement abnormalities in hermansky-pudlak syndrome.

    PubMed

    Gradstein, Libe; FitzGibbon, Edmond J; Tsilou, Ekaterini T; Rubin, Benjamin I; Huizing, Marjan; Gahl, William A

    2005-08-01

    Hermansky-Pudlak Syndrome (HPS) is a type of oculocutaneous albinism associated with a bleeding diathesis and pulmonary fibrosis. Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied. Twenty-seven patients with HPS, diagnosed by platelet morphology and genetic analysis, underwent a systemic evaluation and complete eye examination. Twenty-five had eye movement recordings using magnetic search coil, infrared, or video oculography. All patients had iris transillumination, foveal hypoplasia, and variable hypopigmentation in skin and eyes. All had bleeding tendencies, and 2 reported excessive bleeding during strabismus surgery. Nine patients had pulmonary fibrosis. Visual acuities ranged from 20/20- to 20/320. Twenty patients had strabismus despite 6 having strabismus surgery previously. Ocular oscillations consistent with congenital nystagmus (CN) were clinically evident in 24 of 27 patients, and half showed periodic alternating nystagmus. In 3 patients without CN, eye movement recordings revealed minimal end-gaze nystagmus, square-wave jerks, drift during fixation and saccades, and low-gain pursuit. These patients had melanin in the posterior pole and better visual acuities than the others (P = 0.002). Most patients with HPS have CN, and many have periodic alternating nystagmus. Some have subtle eye movement abnormalities without clinically evident nystagmus, which can obscure the diagnosis, especially if hypopigmentation is mild. Absence of clinical nystagmus in a child with HPS suggests good vision. Patients with albinism, especially before surgery, should be evaluated for HPS to prevent life-threatening complications.

  9. Urine - abnormal color

    MedlinePlus

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  10. Adenotonsillar hypertrophy as a risk factor of dentofacial abnormality in Korean children.

    PubMed

    Kim, Dong-Kyu; Rhee, Chae Seo; Yun, Pil-Young; Kim, Jeong-Whun

    2015-11-01

    No studies for the role of adenotonsillar hypertrophy in development of dentofacial abnormalities have been performed in Asian pediatric population. Thus, we aimed to investigate the relationship between adenotonsillar hypertrophy and dentofacial abnormalities in Korean children. The present study included consecutive children who visited a pediatric clinic for sleep-disordered breathing due to habitual mouth breathing, snoring or sleep apnea. Their palatine tonsils and adenoids were graded by oropharyngeal endoscopy and lateral cephalometry. Anterior open bite, posterior crossbite, and Angle's class malocclusions were evaluated for dentofacial abnormality. The receiver-operating characteristic curve analysis was used to identify age cutoffs to predict dentofacial abnormality. A total of 1,083 children were included. The presence of adenotonsillar hypertrophy was significantly correlated with the prevalence of dentofacial abnormality [adjusted odds ratio = 4.587, 95% CI (2.747-7.658)] after adjusting age, sex, body mass index, allergy, and Korean version of obstructive sleep apnea-18 score. The cutoff age associated with dentofacial abnormality was 5.5 years (sensitivity = 75.5%, specificity = 67%) in the children with adenotonsillar hypertrophy and 6.5 years (sensitivity = 70.6%, specificity = 57%) in those without adenotonsillar hypertrophy. In conclusion, adenotonsillar hypertrophy may be a risk factor for dentofacial abnormalities in Korean children and early surgical intervention could be considered with regards to dentofacial abnormality.

  11. Vessel abnormalization: another hallmark of cancer? Molecular mechanisms and therapeutic implications.

    PubMed

    De Bock, Katrien; Cauwenberghs, Sandra; Carmeliet, Peter

    2011-02-01

    As a result of excessive production of angiogenic molecules, tumor vessels become abnormal in structure and function. By impairing oxygen delivery, abnormal vessels fuel a vicious cycle of non-productive angiogenesis, which creates a hostile microenvironment from where tumor cells escape through leaky vessels and which renders tumors less responsive to chemoradiation. While anti-angiogenic strategies focused on inhibiting new vessel growth and destroying pre-existing vessels, clinical studies showed modest anti-tumor effects. For many solid tumors, anti-VEGF treatment offers greater clinical benefit when combined with chemotherapy. This is partly due to a normalization of the tumor vasculature, which improves cytotoxic drug delivery and efficacy and offers unprecedented opportunities for anti-cancer treatment. Here, we overview key novel molecular players that induce vessel normalization. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Levonorgestrel-releasing intrauterine device in the treatment of abnormal uterine bleeding: a 6- and 12-month morphological and clinical follow-up.

    PubMed

    Palmara, Vittorio; Sturlese, Emanuele; Villari, Daniela; Giacobbe, Valentina; Retto, Annalisa; Santoro, Giuseppe

    2013-08-01

    Abnormal uterine bleeding is defined as any alteration in the pattern or volume of menstrual blood flow, and it is preferably treated using hysterectomy, endometrial destruction or the levonorgestrel-releasing intrauterine system (Mirena(®) ). Recently, it has been demonstrated that studies of Mirena(®) were generally small and consequently imprecise. Our study was aimed at assessing the effects of a slow-release levonorgestrel (20 μg/day) intrauterine device in fertile and postmenopausal women experiencing abnormal uterine bleeding that did not respond to traditional medical management. A total of 40 women, of whom 24 were of reproductive capacity and 16 were postmenopausal, were enrolled in the trial. Removal of the intrauterine device was required for only 2 of the 24 fertile women and for only 3 of the 16 postmenopausal women. After 6 and 12 months of treatment, the remaining women were clinically evaluated and underwent ultrasound and hysteroscopy using biopsy specimens as a control. The EuroQol Group EQ-5D questionnaire was used for evaluation of quality of life. The device showed good tolerability and efficacy. It resulted in a reduction in the endometrial mucosal thickness with a regression of bleeding and collateral effects, which were more evident after 12 months of treatment. A positive effect of the device on the woman's quality of life was demonstrated. The slow-release levonorgestrel intrauterine device may be a valid therapeutic tool for treating basic symptomatology and increasing quality of life in women with abnormal uterine bleeding. © 2013 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  13. Abnormal Reward System Activation in Mania

    PubMed Central

    Abler, Birgit; Greenhouse, Ian; Ongur, Dost; Walter, Henrik; Heckers, Stephan

    2008-01-01

    Transmission of reward signals is a function of dopamine, a neurotransmitter known to be involved in the mechanism of psychosis. Using functional magnetic resonance imaging (fMRI), we investigated how expectation and receipt of monetary rewards modulate brain activation in patients with bipolar mania and schizophrenia. We studied 12 acutely manic patients with a history of bipolar disorder, 12 patients with a current episode of schizoaffective disorder or schizophrenia and 12 healthy subjects. All patients were treated with dopamine antagonists at the time of the study. Subjects performed a delayed incentive paradigm with monetary reward in the scanner that allowed for investigating effects of expectation, receipt, and omission of rewards. Patients with schizophrenia and healthy control subjects showed the expected activation of dopaminergic brain areas, that is, ventral tegmentum activation upon expectation of monetary rewards and nucleus accumbens activation during receipt vs omission of rewards. In manic patients, however, we did not find a similar pattern of brain activation and the differential signal in the nucleus accumbens upon receipt vs omission of rewards was significantly lower compared to the healthy control subjects. Our findings provide evidence for abnormal function of the dopamine system during receipt or omission of expected rewards in bipolar disorder. These deficits in prediction error processing in acute mania may help to explain symptoms of disinhibition and abnormal goal pursuit regulation. PMID:17987058

  14. Impact of maternal metabolic abnormalities in pregnancy on human milk and subsequent infant metabolic development: methodology and design.

    PubMed

    Ley, Sylvia H; O'Connor, Deborah L; Retnakaran, Ravi; Hamilton, Jill K; Sermer, Mathew; Zinman, Bernard; Hanley, Anthony J

    2010-10-06

    Childhood obesity is on the rise and is a major risk factor for type 2 diabetes later in life. Recent evidence indicates that abnormalities that increase risk for diabetes may be initiated early in infancy. Since the offspring of women with diabetes have an increased long-term risk for obesity and type 2 diabetes, the impact of maternal metabolic abnormalities on early nutrition and infant metabolic trajectories is of considerable interest. Human breast milk, the preferred food during infancy, contains not only nutrients but also an array of bioactive substances including metabolic hormones. Nonetheless, only a few studies have reported concentrations of metabolic hormones in human milk specifically from women with metabolic abnormalities. We aim to investigate the impact of maternal metabolic abnormalities in pregnancy on human milk hormones and subsequently on infant development over the first year of life. The objective of this report is to present the methodology and design of this study. The current investigation is a prospective study conducted within ongoing cohort studies of women and their offspring. Pregnant women attending outpatient obstetrics clinics in Toronto, Canada were recruited. Between April 2009 and July 2010, a total of 216 pregnant women underwent a baseline oral glucose tolerance test and provided medical and lifestyle history. Follow-up visits and telephone interviews are conducted and expected to be completed in October 2011. Upon delivery, infant birth anthropometry measurements and human breast milk samples are collected. At 3 and 12 months postpartum, mothers and infants are invited for follow-up assessments. Interim telephone interviews are conducted during the first year of offspring life to characterize infant feeding and supplementation behaviors. An improved understanding of the link between maternal metabolic abnormalities in pregnancy and early infant nutrition may assist in the development of optimal prevention and intervention

  15. Characterizing abnormal behavior in a large population of zoo-housed chimpanzees: prevalence and potential influencing factors

    PubMed Central

    Jacobson, Sarah L.; Bloomsmith, Mollie A.

    2016-01-01

    Abnormal behaviors in captive animals are generally defined as behaviors that are atypical for the species and are often considered to be indicators of poor welfare. Although some abnormal behaviors have been empirically linked to conditions related to elevated stress and compromised welfare in primates, others have little or no evidence on which to base such a relationship. The objective of this study was to investigate a recent claim that abnormal behavior is endemic in the captive population by surveying a broad sample of chimpanzees (Pan troglodytes), while also considering factors associated with the origins of these behaviors. We surveyed animal care staff from 26 accredited zoos to assess the prevalence of abnormal behavior in a large sample of chimpanzees in the United States for which we had information on origin and rearing history. Our results demonstrated that 64% of this sample was reported to engage in some form of abnormal behavior in the past two years and 48% of chimpanzees engaged in abnormal behavior other than coprophagy. Logistic regression models were used to analyze the historical variables that best predicted the occurrence of all abnormal behavior, any abnormal behavior that was not coprophagy, and coprophagy. Rearing had opposing effects on the occurrence of coprophagy and the other abnormal behaviors such that mother-reared individuals were more likely to perform coprophagy, whereas non-mother-reared individuals were more likely to perform other abnormal behaviors. These results support the assertion that coprophagy may be classified separately when assessing abnormal behavior and the welfare of captive chimpanzees. This robust evaluation of the prevalence of abnormal behavior in our sample from the U.S. zoo population also demonstrates the importance of considering the contribution of historical variables to present behavior, in order to better understand the causes of these behaviors and any potential relationship to psychological

  16. Prediction of vascular abnormalities on CT angiography in patients with acute headache.

    PubMed

    Alons, Imanda M E; Goudsmit, Ben F J; Jellema, Korné; van Walderveen, Marianne A A; Wermer, Marieke J H; Algra, Ale

    2018-05-09

    Patients with acute headache increasingly undergo CT-angiography (CTA) to evaluate underlying vascular causes. The aim of this study is to determine clinical and non-contrast CT (NCCT) criteria to select patients who might benefit from CTA. We retrospectively included patients with acute headache who presented to the emergency department of an academic medical center and large regional teaching hospital and underwent NCCT and CTA. We identified factors that increased the probability of finding a vascular abnormality on CTA, performed multivariable regression analyses and determined discrimination with the c-statistic. A total of 384 patients underwent NCCT and CTA due to acute headache. NCCT was abnormal in 194 patients. Among these, we found abnormalities in 116 cases of which 99 aneurysms. In the remaining 190 with normal NCCT we found abnormalities in 12 cases; four unruptured aneurysms, three cerebral venous thrombosis', two reversible cerebral vasoconstriction syndromes, two cervical arterial dissections and one cerebellar infarction. In multivariable analysis abnormal NCCT, lowered consciousness and presentation within 6 hr of headache onset were independently associated with abnormal CTA. The c-statistic of abnormal NCCT alone was 0.80 (95% CI: 0.75-0.80), that also including the other two variables was 0.84 (95% CI: 0.80-0.88). If NCCT was normal no other factors could help identify patients at risk for abnormalities. In patients with acute headache abnormal NCCT is the strongest predictor of a vascular abnormality on CTA. If NCCT is normal no other predictors increase the probability of finding an abnormality on CTA and diagnostic yield is low. © 2018 The Authors. Brain and Behavior published by Wiley Periodicals, Inc.

  17. Epidemiological and Clinical Characteristics of Kawasaki Disease and Factors Associated with Coronary Artery Abnormalities in East China: Nine Years Experience

    PubMed Central

    Tang, Yunjia; Gao, Xiang; Shen, Jie; Sun, Ling

    2016-01-01

    Background: Because of the different genetic backgrounds, living environments and economic conditions, the epidemiologic, clinical characteristics and risk factors for coronary artery abnormalities (CAAs) in the Chinese population may differ among different parts of China. Methods: We did a retrospective study to explore the clinical characteristics and risk factors for CAAs in east China between 2006 and 2014. Results: There were 1016 patients during the study period. Of the 1004 patients who completed echocardiographic studies, 23.9% had CAAs. Sex, serum albumin, erythrocyte sedimentation rate (ESR), Mycoplasma pneumoniae (MP) infection, intravenous immunoglobulin (IVIG) started after the 10th day of illness and IVIG non-responders were independent risk factors associated with CAA. Conclusions: East China has a lower incidence of CAAs compared with southwest and northeast China, while similar to north China. Male gender, serum albumin, ESR, MP infection, IVIG started after the 10th day of illness and IVIG non-responders were predictive of CAA. PMID:26884440

  18. Illicit Stimulant Use Is Associated with Abnormal Substantia Nigra Morphology in Humans

    PubMed Central

    Todd, Gabrielle; Noyes, Carolyn; Flavel, Stanley C.; Della Vedova, Chris B.; Spyropoulos, Peter; Chatterton, Barry; Berg, Daniela; White, Jason M.

    2013-01-01

    Use of illicit stimulants such as methamphetamine, cocaine, and ecstasy is an increasing health problem. Chronic use can cause neurotoxicity in animals and humans but the long-term consequences are not well understood. The aim of the current study was to investigate the long-term effect of stimulant use on the morphology of the human substantia nigra. We hypothesised that history of illicit stimulant use is associated with an abnormally bright and enlarged substantia nigra (termed ‘hyperechogenicity’) when viewed with transcranial sonography. Substantia nigra morphology was assessed in abstinent stimulant users (n = 36; 31±9 yrs) and in two groups of control subjects: non-drug users (n = 29; 24±5 yrs) and cannabis users (n = 12; 25±7 yrs). Substantia nigra morphology was viewed with transcranial sonography and the area of echogenicity at the anatomical site of the substantia nigra was measured at its greatest extent. The area of substantia nigra echogenicity was significantly larger in the stimulant group (0.273±0.078 cm2) than in the control (0.201±0.054 cm2; P<0.001) and cannabis (0.202±0.045 cm2; P<0.007) groups. 53% of stimulant users exhibited echogenicity that exceeded the 90th percentile for the control group. The results of the current study suggest that individuals with a history of illicit stimulant use exhibit abnormal substantia nigra morphology. Substantia nigra hyperechogenicity is a strong risk factor for developing Parkinson's disease later in life and further research is required to determine if the observed abnormality in stimulant users is associated with a functional deficit of the nigro-striatal system. PMID:23418568

  19. The history of barbiturates a century after their clinical introduction

    PubMed Central

    López-Muñoz, Francisco; Ucha-Udabe, Ronaldo; Alamo, Cecilio

    2005-01-01

    The present work offers an analysis of the historical development of the discovery and use of barbiturates in the field of psychiatry and neurology, a century after their clinical introduction. Beginning with the synthesis of malonylurea by von Baeyer in 1864, and up to the decline of barbiturate therapy in the 1960s, it describes the discovery of the sedative properties of barbital, by von Mering and Fischer (1903), the subsequent synthesis of phenobarbital by this same group (1911), and the gradual clinical incorporation of different barbiturates (butobarbital, amobarbital, secobarbital, pentobarbital, thiopental, etc). We describe the role played in therapy by barbiturates throughout their history: their traditional use as sedative and hypnotic agents, their use with schizophrenic patients in so-called “sleep cures” (Klaesi, Cloetta), the discovery of the antiepileptic properties of phenobarbital (Hauptmann) and their use in the treatment of epilepsy, and the introduction of thiobarbiturates in intravenous anesthesia (Lundy, Waters). We also analyze, from the historical perspective, the problems of safety (phenomena of dependence and death by overdose) which, accompanied by the introduction of a range of psychoactive drugs in the 1950s, brought an end to barbiturate use, except in specific applications, such as the induction of anesthesia and the treatment of certain types of epileptic crisis. PMID:18568113

  20. Cortical thickness abnormalities associated with dyslexia, independent of remediation status

    PubMed Central

    Ma, Yizhou; Koyama, Maki S.; Milham, Michael P.; Castellanos, F. Xavier; Quinn, Brian T.; Pardoe, Heath; Wang, Xiuyuan; Kuzniecky, Ruben; Devinsky, Orrin; Thesen, Thomas; Blackmon, Karen

    2014-01-01

    Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the “reading network.” Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience) remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT), surface area (SA), gray matter volume (GMV), and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1) persistent reading and spelling impairment; (2) remediated reading impairment (normal reading scores), and (3) remediated reading and spelling impairments (normal reading and spelling scores); and a control group of (4) typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same “double hit” of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status. PMID:25610779

  1. Scabies in animals and humans: history, evolutionary perspectives, and modern clinical management.

    PubMed

    Currier, Russell W; Walton, Shelley F; Currie, Bart J

    2011-08-01

    Scabies, a mite infestation frequently sexually transmitted, dates back to antiquity but remains a challenging parasite for study in clinical practice and community settings. Its history is one of centuries of slow progress to recognize the mite and to finally establish its nexus to the clinical syndrome of pruritis with several protean manifestations and different epidemiological patterns. Contemporary methods of management are briefly reviewed, with the future promise of improved evolutionary knowledge associated with the advent of molecular and genetic technology. Current information indicates that humans and earlier protohumans were most likely the source of animal scabies, first of dogs, and later of other species with subsequent spread to wildlife. Morphologically identical variants of Sarcoptes scabiei are nonetheless host specific, as determined by recent DNA studies, and invite future investigations into the dynamics of this troublesome sexually transmissible agent, with the goal of improved recognition and control. © 2012 New York Academy of Sciences.

  2. Defining SOD1 ALS natural history to guide therapeutic clinical trial design

    PubMed Central

    Bali, Taha; Self, Wade; Liu, Jingxia; Siddique, Teepu; Wang, Leo H; Bird, Thomas D; Ratti, Elena; Atassi, Nazem; Boylan, Kevin B; Glass, Jonathan D; Maragakis, Nicholas J; Caress, James B; McCluskey, Leo F; Appel, Stanley H; Wymer, James P; Gibson, Summer; Zinman, Lorne; Mozaffar, Tahseen; Callaghan, Brian; McVey, April L; Jockel-Balsarotti, Jennifer; Allred, Peggy; Fisher, Elena R; Lopate, Glenn; Pestronk, Alan; Cudkowicz, Merit E; Miller, Timothy M

    2016-01-01

    Importance Understanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALSSOD1) will provide key information for optimising clinical trials in this patient population. Objective To establish an updated natural history of ALSSOD1. Design, setting and participants Retrospective cohort study from 15 medical centres in North America evaluated records from 175 patients with ALS with genetically confirmed SOD1 mutations, cared for after the year 2000. Main outcomes and measures Age of onset, survival, ALS Functional Rating Scale (ALS-FRS) scores and respiratory function were analysed. Patients with the A4V (Ala-Val) SOD1 mutation (SOD1A4V), the largest mutation population in North America with an aggressive disease progression, were distinguished from other SOD1 mutation patients (SOD1non-A4V) for analysis. Results Mean age of disease onset was 49.7 ±12.3 years (mean±SD) for all SOD1 patients, with no statistical significance between SOD1A4V and SOD1non-A4V (p=0.72, Kruskal-Wallis). Total SOD1 patient median survival was 2.7 years. Mean disease duration for all SOD1 was 4.6±6.0 and 1.4±0.7 years for SOD1A4V. SOD1A4V survival probability (median survival 1.2 years) was significantly decreased compared with SOD1non-A4V (median survival 6.8 years; p<0.0001, log-rank). A statistically significant increase in ALS-FRS decline in SOD1A4V compared with SOD1non-A4V participants (p=0.02) was observed, as well as a statistically significant increase in ALS-forced vital capacity decline in SOD1A4V compared with SOD1non-A4V (p=0.02). Conclusions and relevance SOD1A4V is an aggressive, but relatively homogeneous form of ALS. These SOD1-specific ALS natural history data will be important for the design and implementation of clinical trials in the ALSSOD1 patient population. PMID:27261500

  3. Defining SOD1 ALS natural history to guide therapeutic clinical trial design.

    PubMed

    Bali, Taha; Self, Wade; Liu, Jingxia; Siddique, Teepu; Wang, Leo H; Bird, Thomas D; Ratti, Elena; Atassi, Nazem; Boylan, Kevin B; Glass, Jonathan D; Maragakis, Nicholas J; Caress, James B; McCluskey, Leo F; Appel, Stanley H; Wymer, James P; Gibson, Summer; Zinman, Lorne; Mozaffar, Tahseen; Callaghan, Brian; McVey, April L; Jockel-Balsarotti, Jennifer; Allred, Peggy; Fisher, Elena R; Lopate, Glenn; Pestronk, Alan; Cudkowicz, Merit E; Miller, Timothy M

    2017-02-01

    Understanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALS SOD1 ) will provide key information for optimising clinical trials in this patient population. To establish an updated natural history of ALS SOD1 . Retrospective cohort study from 15 medical centres in North America evaluated records from 175 patients with ALS with genetically confirmed SOD1 mutations, cared for after the year 2000. Age of onset, survival, ALS Functional Rating Scale (ALS-FRS) scores and respiratory function were analysed. Patients with the A4V (Ala-Val) SOD1 mutation (SOD1 A4V ), the largest mutation population in North America with an aggressive disease progression, were distinguished from other SOD1 mutation patients (SOD1 non-A4V ) for analysis. Mean age of disease onset was 49.7±12.3 years (mean±SD) for all SOD1 patients, with no statistical significance between SOD1 A4V and SOD1 non-A4V (p=0.72, Kruskal-Wallis). Total SOD1 patient median survival was 2.7 years. Mean disease duration for all SOD1 was 4.6±6.0 and 1.4±0.7 years for SOD1 A4V . SOD1 A4V survival probability (median survival 1.2 years) was significantly decreased compared with SOD1 non-A4V (median survival 6.8 years; p<0.0001, log-rank). A statistically significant increase in ALS-FRS decline in SOD1 A4V compared with SOD1 non-A4V participants (p=0.02) was observed, as well as a statistically significant increase in ALS-forced vital capacity decline in SOD1 A4V compared with SOD1 non-A4V (p=0.02). SOD1 A4V is an aggressive, but relatively homogeneous form of ALS. These SOD1-specific ALS natural history data will be important for the design and implementation of clinical trials in the ALS SOD1 patient population. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  4. Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

    PubMed Central

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

  5. Bronchial abnormalities found in a consecutive series of 40 brachycephalic dogs.

    PubMed

    De Lorenzi, Davide; Bertoncello, Diana; Drigo, Michele

    2009-10-01

    To detect abnormalities of the lower respiratory tract (trachea, principal bronchi, and lobar bronchi) in brachycephalic dogs by use of endoscopy, evaluate the correlation between laryngeal collapse and bronchial abnormalities, and determine whether dogs with bronchial abnormalities have a less favorable postsurgical long-term outcome following correction of brachycephalic syndrome. Prospective case series study. 40 client-owned brachycephalic dogs with stertorous breathing and clinical signs of respiratory distress. Brachycephalic dogs anesthetized for pharyngoscopy and laryngoscopy between January 2007 and June 2008 underwent flexible bronchoscopy for systematic evaluation of the principal and lobar bronchi. For dogs that underwent surgical correction of any component of brachycephalic syndrome, owners rated surgical outcome during a follow-up telephone survey. Correlation between laryngeal collapse and bronchial abnormalities and association between bronchial abnormalities and long-term outcome were assessed. Pugs (n = 20), English Bulldogs (13), and French Bulldogs (7) were affected. A fixed bronchial collapse was recognized in 35 of 40 dogs with a total of 94 bronchial stenoses. Abnormalities were irregularly distributed between hemithoraces; 15 of 94 bronchial abnormalities were detected in the right bronchial system, and 79 of 94 were detected in the left. The left cranial bronchus was the most commonly affected structure, and Pugs were the most severely affected breed. Laryngeal collapse was significantly correlated with severe bronchial collapse; no significant correlation was found between severity of bronchial abnormalities and postsurgical outcome. Bronchial collapse was a common finding in brachycephalic dogs, and long-term postsurgical outcome was not affected by bronchial stenosis.

  6. Telomere length in the two extremes of abnormal fetal growth and the programming effect of maternal arterial hypertension.

    PubMed

    Tellechea, Mariana; Gianotti, Tomas Fernandéz; Alvariñas, Jorge; González, Claudio D; Sookoian, Silvia; Pirola, Carlos J

    2015-01-19

    We tested the hypothesis that leukocyte telomere length (LTL) is associated with birth weight in both extremes of abnormal fetal growth: small (SGA) and large for gestational age newborns (LGA). Clinical and laboratory variables of the mothers and the neonates were explored; 45 newborns with appropriate weight for gestational age (AGA), 12 SGA and 12 LGA were included. Whether the differences might be explained by variation in OBFC1 (rs9419958) and CTC1 (rs3027234) genes associated with LTL was determined. A significant association between birth weight and LTL was observed; LTL was significantly shorter in LGA newborns (1.01 ± 0.12) compared with SGA (1.73 ± 0.19) p < 0.005, mean ± SE. Maternal (Spearman R = -0.6, p = 0.03) and neonatal LTL (R = -0.25, p = 0.03) were significantly and inversely correlated with maternal history of arterial hypertension in previous gestations. Neonatal LTL was not significantly associated with either rs9419950 or rs3027234, suggesting that the association between neonatal LTL and birth weight is not influenced by genetic variation in genes that modify the interindividual LTL. In conclusion, telomere biology seems to be modulated by abnormal fetal growth; modifications in telomere length might be programmed by an adverse environment in utero.

  7. Association of electrocardiogram abnormalities and incident heart failure events.

    PubMed

    Gencer, Baris; Butler, Javed; Bauer, Douglas C; Auer, Reto; Kalogeropoulos, Andreas; Marques-Vidal, Pedro; Applegate, William B; Satterfield, Suzanne; Harris, Tamara; Newman, Anne; Vittinghoff, Eric; Rodondi, Nicolas

    2014-06-01

    Unless effective preventive strategies are implemented, aging of the population will result in a significant worsening of the heart failure (HF) epidemic. Few data exist on whether baseline electrocardiographic (ECG) abnormalities can refine risk prediction for HF. We examined a prospective cohort of 2,915 participants aged 70 to 79 years without preexisting HF, enrolled between April 1997 and June 1998 in the Health, Aging, and Body Composition (Health ABC) study. Minnesota Code was used to define major and minor ECG abnormalities at baseline and at year 4 follow-up. Using Cox models, we assessed (1) the association between ECG abnormalities and incident HF and (2) the incremental value of adding ECG to the Health ABC HF Risk Score using the net reclassification index. At baseline, 380 participants (13.0%) had minor, and 620 (21.3%) had major ECG abnormalities. During a median follow-up of 11.4 years, 485 participants (16.6%) developed incident HF. After adjusting for the Health ABC HF Risk Score variables, the hazard ratio (HR) was 1.27 (95% CI 0.96-1.68) for minor and 1.99 (95% CI 1.61-2.44) for major ECG abnormalities. At year 4, 263 participants developed new and 549 had persistent abnormalities; both were associated with increased subsequent HF risk (HR 1.94, 95% CI 1.38-2.72 for new and HR 2.35, 95% CI 1.82-3.02 for persistent ECG abnormalities). Baseline ECG correctly reclassified 10.5% of patients with HF events, 0.8% of those without HF events, and 1.4% of the overall population. The net reclassification index across the Health ABC HF risk categories was 0.11 (95% CI 0.03-0.19). Among older adults, baseline and new ECG abnormalities are independently associated with increased risk of HF. The contribution of ECG screening for targeted prevention of HF should be evaluated in clinical trials. Copyright © 2014 Mosby, Inc. All rights reserved.

  8. Characterisation of morbidity in a UK, hospital based, obesity clinic

    PubMed Central

    Sabin, M A; Ford, A L; Holly, J M P; Hunt, L P; Crowne, E C; Shield, J P H

    2006-01-01

    Aim To identify clinical features which predict those most at risk of co‐morbidities within an obesity clinic. Methods Children attending an obesity clinic had fasting glucose, insulin, and lipids measured prior to a standard oral glucose tolerance test (OGTT). History and examination established birth weight, family history of type 2 diabetes/obesity, pubertal status, and presence of acanthosis nigricans. Central and total fat mass was estimated by bio‐impedance. Results Of the 126 children evaluated, 10.3% (n = 13) had impaired glucose tolerance (IGT); the majority (n = 11) of these would not have been identified on fasting glucose alone. Those with IGT were more likely to have a parental history of type 2 diabetes (relative risk 3.5). IGT was not associated with acanthosis nigricans. Twenty five per cent (n = 19) of those evaluated (n = 75) had evidence of the “metabolic syndrome” (MS). HDL cholesterol and triglyceride levels were related to insulin sensitivity (HOMA‐R); HDL cholesterol was also related to birth weight SDS. We observed a trend for those with MS to have a lower birth weight SDS. The severity of obesity did not influence the likelihood of IGT or MS. Conclusions Significant numbers of obese children have associated co‐morbidities. Analysis of fasting blood glucose samples alone is not satisfactory to adequately evaluate glucose homoeostasis. The overall level of obesity does not predict co‐morbidities. Special attention should be given to those with parental diabetes and a history of low birth weight who are more likely to have IGT and abnormal lipid profiles respectively. PMID:16246852

  9. Pleural abnormalities and exposure to elongate mineral particles in Minnesota iron ore (taconite) workers.

    PubMed

    Perlman, David; Mandel, Jeffrey H; Odo, Nnaemeka; Ryan, Andy; Lambert, Christine; MacLehose, Richard F; Ramachandran, Gurumurthy; Alexander, Bruce H

    2018-05-01

    Iron ore (taconite) mining and processing are an important industry in northern Minnesota and western Michigan. Concerns around exposures have centered largely on exposure to non-asbestiform amphibole elongate mineral particles (EMPs) found in the eastern portion of the Minnesota iron range. A cross sectional survey was undertaken of current and former taconite workers and spouses along with a detailed exposure assessment. Participants provided an occupational history and had a chest radiograph performed. A total of 1188 workers participated. Potential exposures to non-amphibole EMPs were evident across multiple jobs in all active mines. Pleural abnormalities were found in 16.8% of workers. There was an association of pleural abnormalities with cumulative EMP exposure that was not specific to the eastern portion of the range. There was evidence of a mild to moderate increase in pleural abnormalities in this population of miners, associated with geographically non-specific cumulative EMP exposure. © 2018 Wiley Periodicals, Inc.

  10. Abnormal pressures as hydrodynamic phenomena

    USGS Publications Warehouse

    Neuzil, C.E.

    1995-01-01

    So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

  11. Prevalence and prognostic impact of electrocardiographic abnormalities in outpatients with extracardiac artery disease.

    PubMed

    Hysing, Per; Jonason, Tommy; Leppert, Jerzy; Hedberg, Pär

    2017-11-24

    Identifying cardiac disease in patients with extracardiac artery disease (ECAD) is essential for clinical decision-making. Electrocardiography (ECG) is an easily accessible tool to unmask subclinical cardiac disease and to risk stratify patient with or without manifest cardiovascular disease (CV). We aimed to examine the prevalence and prognostic impact of ECG changes in outpatients with ECAD. Outpatients with carotid or lower extremity artery disease (n = 435) and community-based controls (n = 397) underwent resting ECG. The patients were followed during a median of 4·8 years for CV events (hospitalization or death caused by ischaemic heart disease, cardiac arrest, heart failure, or stroke). ECG abnormalities were classified according to the Minnesota Code. Major (33% versus 15%, P<0·001) but not minor ECG abnormalities (23% versus 26%, P = 0·42) were significantly more common in patients versus controls. During the follow-up, 141 patients experienced CV events. Both major ECG abnormalities [hazard ratio (HR) 1·58, 95% confidence interval (CI) 1·11-2·25, P = 0·012] and any ECG abnormalities (HR 1·57, 95% CI 1·06-2·33, P = 0·024) were significantly associated with CV events after adjustment for potential risk factors. In conclusion, ECG abnormalities were common in these outpatients with ECAD. Major and any ECG abnormalities were independent predictors of CV events. Addition of easily accessible ECG information might be useful in risk stratification for such patients. © 2017 Scandinavian Society of Clinical Physiology and Nuclear Medicine. Published by John Wiley & Sons Ltd.

  12. Bilateral Sensory Abnormalities in Patients with Unilateral Neuropathic Pain; A Quantitative Sensory Testing (QST) Study

    PubMed Central

    Konopka, Karl-Heinz; Harbers, Marten; Houghton, Andrea; Kortekaas, Rudie; van Vliet, Andre; Timmerman, Wia; den Boer, Johan A.; Struys, Michel M.R.F.; van Wijhe, Marten

    2012-01-01

    In patients who experience unilateral chronic pain, abnormal sensory perception at the non-painful side has been reported. Contralateral sensory changes in these patients have been given little attention, possibly because they are regarded as clinically irrelevant. Still, bilateral sensory changes in these patients could become clinically relevant if they challenge the correct identification of their sensory dysfunction in terms of hyperalgesia and allodynia. Therefore, we have used the standardized quantitative sensory testing (QST) protocol of the German Research Network on Neuropathic Pain (DFNS) to investigate somatosensory function at the painful side and the corresponding non-painful side in unilateral neuropathic pain patients using gender- and age-matched healthy volunteers as a reference cohort. Sensory abnormalities were observed across all QST parameters at the painful side, but also, to a lesser extent, at the contralateral, non-painful side. Similar relative distributions regarding sensory loss/gain for non-nociceptive and nociceptive stimuli were found for both sides. Once a sensory abnormality for a QST parameter at the affected side was observed, the prevalence of an abnormality for the same parameter at the non-affected side was as high as 57% (for Pressure Pain Threshold). Our results show that bilateral sensory dysfunction in patients with unilateral neuropathic pain is more rule than exception. Therefore, this phenomenon should be taken into account for appropriate diagnostic evaluation in clinical practice. This is particularly true for mechanical stimuli where the 95% Confidence Interval for the prevalence of sensory abnormalities at the non-painful side ranges between 33% and 50%. PMID:22629414

  13. Esophageal motility abnormalities in gastroesophageal reflux disease

    PubMed Central

    Martinucci, Irene; de Bortoli, Nicola; Giacchino, Maria; Bodini, Giorgia; Marabotto, Elisa; Marchi, Santino; Savarino, Vincenzo; Savarino, Edoardo

    2014-01-01

    Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophageal motility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from non-erosive reflux disease to erosive reflux disease and Barrett’s esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted. PMID:24868489

  14. Esophageal motility abnormalities in gastroesophageal reflux disease.

    PubMed

    Martinucci, Irene; de Bortoli, Nicola; Giacchino, Maria; Bodini, Giorgia; Marabotto, Elisa; Marchi, Santino; Savarino, Vincenzo; Savarino, Edoardo

    2014-05-06

    Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophageal motility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from non-erosive reflux disease to erosive reflux disease and Barrett's esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted.

  15. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G

    PubMed Central

    Majamaa-Voltti, Kirsi; Peuhkurinen, Keijo; Kortelainen, Marja-Leena; Hassinen, Ilmo E; Majamaa, Kari

    2002-01-01

    Background Tissues that depend on aerobic energy metabolism suffer most in diseases caused by mutations in mitochondrial DNA (mtDNA). Cardiac abnormalities have been described in many cases, but their frequency and clinical spectrum among patients with mtDNA mutations is unknown. Methods Thirty-nine patients with the 3243A>G mtDNA mutation were examined, methods used included clinical evaluation, electrocardiogram, Holter recording and echocardiography. Autopsy reports on 17 deceased subjects were also reviewed. The degree of 3243A>G mutation heteroplasmy was determined using an Apa I restriction fragment analysis. Better hearing level (BEHL0.5–4 kHz) was used as a measure of the clinical severity of disease. Results Left ventricular hypertrophy (LVH) was diagnosed in 19 patients (56%) by echocardiography and in six controls (15%) giving an odds ratio of 7.5 (95% confidence interval; 1.74–67). The dimensions of the left ventricle suggested a concentric hypertrophy. Left ventricular systolic or diastolic dysfunction was observed in 11 patients. Holter recording revealed frequent ventricular extrasystoles (>10/h) in five patients. Patients with LVH differed significantly from those without LVH in BEHL0.5–4 kHz, whereas the contribution of age or the degree of the mutant heteroplasmy in skeletal muscle to the risk of LVH was less remarkable. Conclusions Structural and functional abnormalities of the heart were common in patients with 3243A>G. The risk of LVH was related to the clinical severity of the phenotype, and to a lesser degree to age, suggesting that patients presenting with any symptoms from the mutation should also be evaluated for cardiac abnormalities. PMID:12150714

  16. Identifying the culprit lesion in tumor induced hypophosphatemia, the solution of a clinical enigma.

    PubMed

    Slot-Steenks, Mathilde M Bruins; Hamdy, Neveen A T; van de Sande, Michiel A J; Vriens, Dennis; Cleven, Arjen H G; Appelman-Dijkstra, Natasha M

    2016-12-01

    Tumor-induced osteomalacia is a rare acquired metabolic bone disorder characterized by isolated renal phosphate wasting due to abnormal tumor production of fibroblast growth factor 23. We report the case of a 59 year old woman referred to our department with a long history of progressive diffuse muscle weakness and pain, generalized bone pains and multiple insufficiency fractures of heels, ankles and hips due to a hypophosphatemic osteomalacia. A fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle was identified 7 years after onset of symptoms. Excision of the tumor resulted in normalization of serum phosphate and fibroblast growth factor 23 levels and in complete resolution of the clinical picture with disappearance of all musculoskeletal symptoms. This case illustrates the diagnostic difficulties in establishing a diagnosis tumor-induced osteomalacia and in identifying the responsible tumor. Our case underscores the clinical need to investigate all patients with persistent musculoskeletal symptoms for hypophosphatemia. A systematic approach is of pivotal importance because early recognition and treatment of the metabolic abnormality can prevent deleterious effects of osteomalacia on the skeleton.

  17. [The clinicopathological analysis of 88 patients with abnormal liver function test of unknown etiology].

    PubMed

    Pang, Shu-zhen; Ou, Xiao-juan; Shi, Xiao-yan; Wang, Tai-ling; Duan, Wei-jia; Jia, Ji-dong

    2011-01-01

    To evaluate the clinical and histological features of patients with abnormal liver tests of unknown etiology, and then to investigate the diagnosis and differential diagnosis. Patients with abnormal liver function test hospitalized and had liver biopsies during 2008 - 2009 constituted this retrospective study cohort. After excluding those patients diagnosed with hepatotropic viral hepatitis, space occupying lesions of the liver, alcoholic liver disease and obstruction of bile duct caused by stone or malignancy and AMA/AMA-M(2) positive of primary biliary cirrhosis (PBC), the clinical and histological characteristics were evaluated. Out of the 180 patients who underwent liver biopsy, 88 patients were included in the present analysis. The final diagnosis involved 15 categories of diseases, with drug-induced liver injury (DILI) [34.09% (30/88)], autoimmune liver diseases [22.73% (20/88)], and nonalcoholic fatty liver disease (NAFLD) [12.50% (11/88)] being the most common causes, following by genetic and other rare diseases. DILI, autoimmune liver disease and NAFLD were the most common causes of abnormal liver tests in these non-viral liver diseases. Some rare diseases such as hereditary metabolic liver disease also represent a considerable proportion in patients with abnormal liver function test.

  18. Diagnosis and treatment of abnormal dental pain.

    PubMed

    Fukuda, Ken-Ichi

    2016-03-01

    Most dental pain is caused by an organic problem such as dental caries, periodontitis, pulpitis, or trauma. Diagnosis and treatment of these symptoms are relatively straightforward. However, patients often also complain of abnormal dental pain that has a non-dental origin, whose diagnosis is challenging. Such abnormal dental pain can be categorized on the basis of its cause as referred pain, neuromodulatory pain, and neuropathic pain. When it is difficult to diagnose a patient's dental pain, these potential alternate causes should be considered. In this clinical review, we have presented a case of referred pain from the digastric muscle (Patient 1), of pulpectomized (Patient 2), and of pulpectomized pain (Patient 3) to illustrate referred, neuromodulatory, and neuropathic pain, respectively. The Patient 1 was advised muscle stretching and gentle massage of the trigger points, as well as pain relief using a nonsteroidal anti-inflammatory and the tricyclic antidepressant amitriptyline. The pain in Patient 2 was relieved completely by the tricyclic antidepressant amitriptyline. In Patient 3, the pain was controlled using either a continuous drip infusion of adenosine triphosphate or intravenous Mg2+ and lidocaine administered every 2 weeks. In each case of abnormal dental pain, the patient's diagnostic chart was used (Fig.2 and 3). Pain was satisfactorily relieved in all cases.

  19. Developmental abnormalities of the posterior pituitary gland.

    PubMed

    di Iorgi, Natascia; Secco, Andrea; Napoli, Flavia; Calandra, Erika; Rossi, Andrea; Maghnie, Mohamad

    2009-01-01

    While the molecular mechanisms of anterior pituitary development are now better understood than in the past, both in animals and in humans, little is known about the mechanisms regulating posterior pituitary development. The posterior pituitary gland is formed by the evagination of neural tissue from the floor of the third ventricle. It consists of the distal axons of the hypothalamic magnocellular neurones that shape the neurohypophysis. After its downward migration, it is encapsulated together with the ascending ectodermal cells of Rathke's pouch which form the anterior pituitary. By the end of the first trimester, this development is completed and vasopressin and oxytocin can be detected in neurohypophyseal tissue. Abnormal posterior pituitary migration such as the ectopic posterior pituitary lobe appearing at the level of median eminence or along the pituitary stalk have been reported in idiopathic GH deficiency or in subjects with HESX1, LHX4 and SOX3 gene mutations. Another intriguing feature of abnormal posterior pituitary development involves genetic forms of posterior pituitary neurodegeneration that have been reported in autosomal-dominant central diabetes insipidus and Wolfram disease. Defining the phenotype of the posterior pituitary gland can have significant clinical implications for management and counseling, as well as providing considerable insight into normal and abnormal mechanisms of posterior pituitary development in humans.

  20. PALM-COEIN Nomenclature for Abnormal Uterine Bleeding.

    PubMed

    Deneris, Angela

    2016-05-01

    Approximately 30% of women will experience abnormal uterine bleeding (AUB) during their life time. Previous terms defining AUB have been confusing and imprecisely applied. As a consequence, both clinical management and research on this common problem have been negatively impacted. In 2011, the International Federation of Gynecology and Obstetrics (FIGO) Menstrual Disorders Group (FMDG) published PALM-COEIN, a new classification system for abnormal bleeding in the reproductive years. Terms such as menorrhagia, menometrorrhagia, metrorrhagia, dysfunctional uterine bleeding, polymenorrhea, oligomenorrhea, and uterine hemorrhage are no longer recommended. The PALM-COEIN system was developed to standardize nomenclature to describe the etiology and severity of AUB. A brief description of the PALM-COEIN nomenclature is presented as well as treatment options for each etiology. Clinicians will frequently encounter women with AUB and should report findings utilizing the PALM-COEIN system. © 2016 by the American College of Nurse-Midwives.

  1. A brief history of the development of mannequin simulators for clinical education and training

    PubMed Central

    Cooper, J; Taqueti, V

    2004-01-01

    Simulation for medical and healthcare applications, although still in a relatively nascent stage of development, already has a history that can inform the process of further research and dissemination. The development of mannequin simulators used for education, training, and research is reviewed, tracing the motivations, evolution to commercial availability, and efforts toward assessment of efficacy of those for teaching cardiopulmonary resuscitation, cardiology skills, anaesthesia clinical skills, and crisis management. A brief overview of procedural simulators and part-task trainers is also presented, contrasting the two domains and suggesting that a thorough history of the 20+ types of simulator technologies would provide a useful overview and perspective. There has been relatively little cross fertilisation of ideas and methods between the two simulator domains. Enhanced interaction between investigators and integration of simulation technologies would be beneficial for the dissemination of the concepts and their applications. PMID:15465949

  2. Trauma history is associated with prior suicide attempt history in hospitalized patients with major depressive disorder.

    PubMed

    Brown, Lily A; Armey, Michael A; Sejourne, Corinne; Miller, Ivan W; Weinstock, Lauren M

    2016-09-30

    Although the relationships between PTSD, abuse history, and suicidal behaviors are well-established in military and outpatient samples, little data is available on this relationship in inpatient samples. This study examines the relationships between these variables and related demographic and clinical correlates in a sample of psychiatric inpatients with a diagnosis of major depressive disorder using electronic medical record (EMR) data. Controlling for relevant demographic and clinical variables, PTSD diagnosis and history of abuse were both significantly associated with history of suicide attempt, but in a combined model, only history of abuse remained as a significant predictor. Whereas history of abuse was associated with a history multiple suicide attempts, PTSD diagnosis was not. Both insurance status and gender acted as significant moderators of the relationship between history of abuse and history of suicide attempt, with males and those with public/no insurance having greater associations with history of suicide attempts when an abuse history was present. These data indicate the importance of documentation of PTSD, abuse history, and history of suicide attempts. The results also suggest that in the presence of an abuse history or PTSD diagnosis, additional time spent on safety and aftercare planning following hospital discharge may be indicated. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  3. Abnormal Functional Connectivity in Autism Spectrum Disorders during Face Processing

    ERIC Educational Resources Information Center

    Kleinhans, Natalia M.; Richards, Todd; Sterling, Lindsey; Stegbauer, Keith C.; Mahurin, Roderick; Johnson, L. Clark; Greenson, Jessica; Dawson, Geraldine; Aylward, Elizabeth

    2008-01-01

    Abnormalities in the interactions between functionally linked brain regions have been suggested to be associated with the clinical impairments observed in autism spectrum disorders (ASD). We investigated functional connectivity within the limbic system during face identification; a primary component of social cognition, in 19 high-functioning…

  4. Thyroid function testing in primary care: overused and under-evidenced? A study examining which clinical features correspond to an abnormal thyroid function result.

    PubMed

    Werhun, Alexander; Hamilton, William

    2015-04-01

    Diagnostic testing is increasing in primary care, including for thyroid disease. This study examined which clinical features were associated with an abnormal thyroid stimulating hormone (TSH) result. This was a cross-sectional study in one general practice of 16,487 patients in Exeter, Devon, UK. We examined the primary care records relating to every TSH test taken in the year from August 2012, and extracted symptoms and/or the indication for testing. Associations with an abnormal result were tested using multivariable logistic regression. A cohort study was then performed of 100 patients newly recorded with each of the six features associated with an abnormal test result in the cross-sectional study, and the proportions tested for TSH and the results of that testing identified. Two thousand thirty-five patients (12% of the practice population) had TSH testing in the year. Of these 35 (1.7%) had a TSH >4.5 mIU/l, suggesting hypothyroidism, and 7 (0.3%) had TSH <0.01 mIu/l suggesting hyperthyroidism. Features associated with an abnormal TSH were: pregnancy, odds ratio 41 (95% confidence interval 9.3-180), constipation 9.7 (2.1-45), palpitations 23 (3.4-150), hair loss, 21 (2.0-230), weight gain, 18 (1.6-190) and diarrhoea, 13 (1.2-130); in separate analyses only pregnancy and constipation were associated with a raised TSH, and the remaining four features with a low TSH. The diagnostic yield of thyroid disease in this study was 2.1% suggests testing could be better targeted without missing diagnoses. The symptoms associated with thyroid disease differ from those generally reported. This may represent fewer patients presenting with advanced disease. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  5. Abnormal heart rate recovery and chronotropic incompetence on exercise in chronic obstructive pulmonary disease.

    PubMed

    Gupta, Mansi; Bansal, Vishal; Chhabra, Sunil K

    2013-08-01

    Chronotropic incompetence (CI; failure to reach the targeted heart rate (HR) on exercise) and a delayed HR recovery (HRR; ≤12 beats decline within the first minute after cessation) reflect autonomic dysfunction (AD) and predict adverse cardiac prognosis. As chronic obstructive pulmonary disease (COPD) is known to be associated with AD, we hypothesized that these patients may manifest these responses on exercise. The prevalence and predictors of these responses in COPD and their association with its severity have not been evaluated. Normoxemic, stable male patients with COPD (n = 39) and 11 healthy controls underwent lung function testing and incremental leg ergometry. HR responses were monitored during exercise and recovery to compute the HRR and CI. Of all the patients, 33 (84.6%) had at least one of the two exercise responses as abnormal, with the majority (23, 58.9%) having both an abnormal HRR and CI. The frequency of abnormal responses increased with increasing Global Initiative for Chronic Obstructive Lung Disease stage and body mass index, airflow obstruction, dyspnoea and exercise capacity index. After adjusting for smoking history and post-bronchodilator forced expiratory volume in 1 second, only a reduced diffusion capacity for carbon monoxide predicted abnormal HRR, though weakly. We concluded that abnormal HRR and CI are common in patients with COPD. These responses are observed with increasing frequency as the severity of disease increases.

  6. Is screening for abnormal ECG patterns justified in long-term follow-up of childhood cancer survivors treated with anthracyclines?

    PubMed

    Pourier, Milanthy S; Mavinkurve-Groothuis, Annelies M C; Loonen, Jacqueline; Bökkerink, Jos P M; Roeleveld, Nel; Beer, Gil; Bellersen, Louise; Kapusta, Livia

    2017-03-01

    ECG and echocardiography are noninvasive screening tools to detect subclinical cardiotoxicity in childhood cancer survivors (CCSs). Our aims were as follows: (1) assess the prevalence of abnormal ECG patterns, (2) determine the agreement between abnormal ECG patterns and echocardiographic abnormalities; and (3) determine whether ECG screening for subclinical cardiotoxicity in CCSs is justified. We retrospectively studied ECG and echocardiography in asymptomatic CCSs more than 5 years after anthracycline treatment. Exclusion criteria were abnormal ECG and/or echocardiogram at the start of therapy, incomplete follow-up data, clinical heart failure, cardiac medication, and congenital heart disease. ECG abnormalities were classified using the Minnesota Code. Level of agreement between ECG and echocardiography was calculated with Cohen kappa. We included 340 survivors with a mean follow-up of 14.5 years (range 5-32). ECG was abnormal in 73 survivors (21.5%), with ventricular conduction disorders, sinus bradycardia, and high-amplitude R waves being most common. Prolonged QTc (>0.45 msec) was found in two survivors, both with a cumulative anthracycline dose of 300 mg/m 2 or higher. Echocardiography showed abnormalities in 44 survivors (12.9%), mostly mild valvular abnormalities. The level of agreement between ECG and echocardiography was low (kappa 0.09). Male survivors more often had an abnormal ECG (corrected odds ratio: 3.00, 95% confidence interval: 1.68-5.37). Abnormal ECG patterns were present in 21% of asymptomatic long-term CCSs. Lack of agreement between abnormal ECG patterns and echocardiographic abnormalities may suggest that ECG is valuable in long-term follow-up of CCSs. However, it is not clear whether these abnormal ECG patterns will be clinically relevant. © 2016 Wiley Periodicals, Inc.

  7. Computerized histories facilitate patient care in a termination of pregnancy clinic: the use of a small computer to obtain and reproduce patient information.

    PubMed

    Lilford, R J; Bingham, P; Bourne, G L; Chard, T

    1985-04-01

    An inexpensive microcomputer has been programmed to obtain histories from patients attending a pregnancy termination clinic. The system is nurse-interactive; yes/no and multiple-choice questions are answered on the visual display unit by a light pen. Proper nouns and discursive text are typed at the computer keyboard. A neatly formatted summary of the history is then provided by an interfaced printer. The history follows a branching pattern; of the 370 questions included in the program, only 68 are answered in the course of an average history. The program contains numerous error traps and the user may request explanations of questions which are not immediately understood. The system was designed to ensure that no factors of anaesthetic or medical importance would be overlooked in the busy out-patient clinic. The computer provides a much more complete history with an average of 42 more items of information than the pre-existing manual system. This system is demanding of nursing time and possible conversion to a patient-interactive system is discussed. A confidential questionnaire revealed a high degree of consumer acceptance.

  8. Breast MRI BI-RADS assessments and abnormal interpretation rates by clinical indication in US community practices.

    PubMed

    Lee, Christoph I; Ichikawa, Laura; Rochelle, Michele C; Kerlikowske, Karla; Miglioretti, Diana L; Sprague, Brian L; DeMartini, Wendy B; Wernli, Karen J; Joe, Bonnie N; Yankaskas, Bonnie C; Lehman, Constance D

    2014-11-01

    As breast magnetic resonance imaging (MRI) use grows, benchmark performance parameters are needed for auditing and quality assurance purposes. We describe the variation in breast MRI abnormal interpretation rates (AIRs) by clinical indication among a large sample of US community practices. We analyzed data from 41 facilities across five Breast Cancer Surveillance Consortium imaging registries. Each registry obtained institutional review board approval for this Health Insurance Portability and Accountability Act compliant analysis. We included 11,654 breast MRI examinations conducted in 2005-2010 among women aged 18-79 years. We categorized clinical indications as 1) screening, 2) extent of disease, 3) diagnostic (eg, breast symptoms), and 4) other (eg, short-interval follow-up). We characterized assessments as positive (ie, Breast Imaging Reporting and Data System [BI-RADS] 0, 4, and 5) or negative (ie, BI-RADS 1, 2, and 6) and provide results with BI-RADS 3 categorized as positive and negative. We tested for differences in AIRs across clinical indications both unadjusted and adjusted for patient characteristics and registry and assessed for changes in AIRs by year within each clinical indication. When categorizing BI-RADS 3 as positive, AIRs were 21.0% (95% confidence interval [CI], 19.8-22.3) for screening, 31.7% (95% CI, 29.6-33.8) for extent of disease, 29.7% (95% CI, 28.3-31.1) for diagnostic, and 27.4% (95% CI, 25.0-29.8) for other indications (P < .0001). When categorizing BI-RADS 3 as negative, AIRs were 10.5% (95% CI, 9.5-11.4) for screening, 21.8% (95% CI, 19.9-23.6) for extent of disease, 17.7% (95% CI, 16.5-18.8) for diagnostic, and 13.3% (95% CI, 11.6-15.2) for other indications (P < .0001). The significant differences in AIRs by indication persisted even after adjusting for patient characteristics and registry (P < .0001). In addition, for most indications, there were no significant changes in AIRs over time. Breast MRI AIRs differ significantly by

  9. [The auditing of the clinical histories of a health center].

    PubMed

    Corral Gómez, F J; Arrojo López, I; Gallego Valdeiglesias, A; Martínez Barredo, J M; Meilán Pérez, A; Míguez Gallego, M; Machín Fernández, A J

    1993-09-15

    To assess how fully clinical records (CR) at a health centre are filled in, using quality control techniques. Retrospective, descriptive study. SITE. The "Sagrado Corazón" (Lugo) Health team, made up of 6 General practitioners, 7 nursing staff (ATS-DUE) and 1 paediatrician. A systematic sample of 400 adult CR. The data card and follow-up sections were correct in over 90% of CR. Weight and height were correct in 25.75%. The composite indicator showed that 32.25% of CR were correct. Results were better for CR of users over 44. The differences were significant for: personal case histories, Arterial Pressure, allergies, weight and height and composite indicator. The lack and bad distribution of nursing offices and weighing-scales could explain the results of the height and weight sections. The CR is not just a document store. However it must be improved.

  10. Association between abnormal nocturnal blood pressure profile and dementia in Parkinson's disease.

    PubMed

    Tanaka, Ryota; Shimo, Yasushi; Yamashiro, Kazuo; Ogawa, Takashi; Nishioka, Kenya; Oyama, Genko; Umemura, Atsushi; Hattori, Nobutaka

    2018-01-01

    Circadian blood pressure alterations are frequently observed in Parkinson's disease, but the association between these changes and dementia in the condition remains unclear. Here, we assess the relationship between abnormal nocturnal blood pressure profiles and dementia in Parkinson's disease. We enrolled 137 patients with Parkinson's disease, who underwent 24 h ambulatory blood pressure monitoring, following cognitive and clinical assessment. Twenty-seven patients (19.7%) were diagnosed with dementia in this cohort. We observed significant associations of dementia with age, male gender, Hoehn-Yahr (H-Y) stage, diabetes mellitus, history of stroke, presence of cerebrovascular lesions on MRI, and orthostatic hypotension. Univariate logistic regression analysis showed that among the patterns of nocturnal blood pressure profiles, the riser pattern was significantly associated with dementia (OR 11.6, 95%CI: 2.14-215.0, P < 0.01), and this trend was observed after adjusting for all confounding factors except orthostatic hypotension (OR 19.2, 95%CI: 1.12-1960.3, P = 0.04). However, coexistence of a riser pattern and orthostatic hypotension was related to a higher prevalence of dementia (45.2%) than was a riser pattern alone (9.5%). Furthermore, coexistence of a riser pattern and orthostatic hypotension was significantly more associated with dementia than was a riser pattern alone, even after adjusting for confounders (OR 1625.1, 95%CI: 21.9-1343909.5, P < 0.01). Our results suggest a relationship between a riser pattern coexisting with orthostatic hypotension and dementia in Parkinson's disease. Further prospective studies are warranted to investigate whether abnormal nocturnal blood pressure profiles predict dementia in Parkinson's disease. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Women's experiences of abnormal Pap smear results - A qualitative study.

    PubMed

    Rask, Marie; Swahnberg, Katarina; Lindell, Gunnel; Oscarsson, Marie

    2017-06-01

    To describe women's experiences of abnormal Pap smear result. Ten women were recruited from a women's health clinic. Qualitative interviews based on six open-ended questions were conducted, transcribed verbatim, and analyzed by content analysis. The women believed that their abnormal Pap smear result was indicative of having cancer. This created anxiety in the women, which resulted in the need for emotional support and information. Testing positive with human papillomavirus (HPV) also meant consequences for the relatives as well as concerns about the sexually transmitted nature of the virus. Finally, the women had a need to be treated with respect by the healthcare professionals in order to reduce feelings of being abused. In general, women have a low level of awareness of HPV and its relation to abnormal Pap smear results. Women who receive abnormal Pap smear results need oral information, based on the individual women's situation, and delivered at the time the women receive the test result. It is also essential that a good emotional contact be established between the women and the healthcare professionals. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Abnormal mTOR Activation in Autism.

    PubMed

    Winden, Kellen D; Ebrahimi-Fakhari, Darius; Sahin, Mustafa

    2018-01-25

    The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates environmental information regarding energy availability and stimulates anabolic molecular processes and cell growth. Abnormalities in this pathway have been identified in several syndromes in which autism spectrum disorder (ASD) is highly prevalent. Several studies have investigated mTOR signaling in developmental and neuronal processes that, when dysregulated, could contribute to the development of ASD. Although many potential mechanisms still remain to be fully understood, these associations are of great interest because of the clinical availability of mTOR inhibitors. Clinical trials evaluating the efficacy of mTOR Expected final online publication date for the Annual Review of Neuroscience Volume 41 is July 8, 2018. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

  13. Resource reduction in pediatric chest pain: Standardized clinical assessment and management plan.

    PubMed

    Saleeb, Susan F; McLaughlin, Sarah R; Graham, Dionne A; Friedman, Kevin G; Fulton, David R

    2018-01-01

    Using a Standardized Clinical Assessment and Management Plan (SCAMP) for pediatric patients presenting to clinic with chest pain, we evaluated the cost impact associated with implementation of the care algorithm. Prior to introduction of the SCAMP, we analyzed charges for 406 patients with chest pain, seen in 2009, and predicted 21% reduction of overall charges had the SCAMP methodology been used. The SCAMP recommended an echocardiogram for history, examination, or ECG findings suggestive of a cardiac etiology for chest pain. Resource utilization was reviewed for 1517 patients (7-21 years) enrolled in the SCAMP from July 2010 to April 2014. Compared to the 2009 historic cohort, patients evaluated by the SCAMP had higher rates of exertional chest pain (45% vs 37%) and positive family history (5% vs 1%). The SCAMP cohort had fewer abnormal physical examination findings (1% vs 6%) and abnormal electrocardiograms (3% vs 5%). Echocardiogram use increased in the SCAMP cohort compared to the 2009 historic cohort (45% vs 41%), whereas all other ancillary testing was reduced: exercise stress testing (4% SCAMP vs 28% historic), Holter (4% vs 7%), event monitors (3% vs 10%), and MRI (1% vs 2%). Total charges were reduced by 22% ($822 625) by use of the Chest Pain SCAMP, despite a higher percentage of patients for whom echocardiogram was recommended compared to the historic cohort. The Chest Pain SCAMP effectively streamlines cardiac testing and reduces resource utilization. Further reductions can be made by algorithm refinement regarding echocardiograms for exertional symptoms. © 2017 Wiley Periodicals, Inc.

  14. Abnormal center-periphery gradient in spatial attention in simultanagnosia.

    PubMed

    Balslev, Daniela; Odoj, Bartholomaeus; Rennig, Johannes; Karnath, Hans-Otto

    2014-12-01

    Patients suffering from simultanagnosia cannot perceive more than one object at a time. The underlying mechanism is incompletely understood. One hypothesis is that simultanagnosia reflects "tunnel vision," a constricted attention window around gaze, which precludes the grouping of individual objects. Although this idea has a long history in neuropsychology, the question whether the patients indeed have an abnormal attention gradient around the gaze has so far not been addressed. Here we tested this hypothesis in two simultanagnosia patients with bilateral parieto-occipital lesions and two control groups, with and without brain damage. We assessed the participants' ability to discriminate letters presented briefly at fixation with and without a peripheral distractor or in the visual periphery, with or without a foveal distractor. A constricted span of attention around gaze would predict an increased susceptibility to foveated versus peripheral distractors. Contrary to this prediction and unlike both control groups, the patients' ability to discriminate the target decreased more in the presence of peripheral compared with foveated distractors. Thus, the attentional spotlight in simultanagnosia does not fall on foveated objects as previously assumed, but rather abnormally highlights the periphery. Furthermore, we found the same center-periphery gradient in the patients' ability to recognize multiple objects. They detected multiple, but not single objects more accurately in the periphery than at fixation. These results suggest that an abnormal allocation of attention around the gaze can disrupt the grouping of individual objects into an integrated visual scene.

  15. No. 292-Abnormal Uterine Bleeding in Pre-Menopausal Women.

    PubMed

    Singh, Sukhbir; Best, Carolyn; Dunn, Sheila; Leyland, Nicholas; Wolfman, Wendy Lynn

    2018-05-01

    Abnormal uterine bleeding is the direct cause of a significant health care burden for women, their families, and society as a whole. Up to 30% of women will seek medical assistance for this problem during their reproductive years. This guideline replaces previous clinical guidelines on the topic and is aimed to enable health care providers with the tools to provide the latest evidence-based care in the diagnosis and the medical and surgical management of this common problem. To provide current evidence-based guidelines for the diagnosis and management of abnormal uterine bleeding (AUB) among women of reproductive age. Outcomes evaluated include the impact of AUB on quality of life and the results of interventions including medical and surgical management of AUB. Members of the guideline committee were selected on the basis of individual expertise to represent a range of practical and academic experience in terms of location in Canada, type of practice, subspecialty expertise, and general gynaecology background. The committee reviewed relevant evidence in the English medical literature including published guidelines. Recommendations were established as consensus statements. The final document was reviewed and approved by the Executive and Council of the SOGC. This document provides a summary of up-to-date evidence regarding diagnosis, investigations, and medical and surgical management of AUB. The resulting recommendations may be adapted by individual health care workers when serving women with this condition. Abnormal uterine bleeding is a common and sometimes debilitating condition in women of reproductive age. Standardization of related terminology, a systematic approach to diagnosis and investigation, and a step-wise approach to intervention is necessary. Treatment commencing with medical therapeutic modalities followed by the least invasive surgical modalities achieving results satisfactory to the patient is the ultimate goal of all therapeutic interventions

  16. [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

    PubMed

    Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

    2005-10-12

    To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

  17. Age at onset versus family history and clinical outcomes in 1,665 international bipolar-I disorder patients

    PubMed Central

    BALDESSARINI, ROSS J.; TONDO, LEONARDO; VAZQUEZ, GUSTAVO H.; UNDURRAGA, JUAN; BOLZANI, LORENZA; YILDIZ, AYSEGUL; KHALSA, HARI-MANDIR K.; LAI, MASSIMO; LEPRI, BEATRICE; LOLICH, MARIA; MAFFEI, PIER MARIO; SALVATORE, PAOLA; FAEDDA, GIANNI L.; VIETA, EDUARD; MAURICIO, TOHEN

    2012-01-01

    Early onset in bipolar disorder (BPD) has been associated with greater familial risk and unfavorable clinical outcomes. We pooled data from seven international centers to analyze the relationships of family history and symptomatic as well as functional measures of adult morbidity to onset age, or onset in childhood (age <12), adolescence (12-18), or adulthood (19-55 years). In 1,665 adult, DSM-IV BPD-I patients, onset was 5% in childhood, 28% in adolescence, and 53% at peak ages 15-25. Adolescent and adult onset did not differ by symptomatic morbidity (episodes/year, percentage of months ill, co-morbidity, hospitalization, suicide attempts) or family history. Indications of favorable adult functional outcomes (employment, living independently, marriage and children, and a composite measure including education) ranked, by onset: adult > adolescent > child. Onset in childhood versus adolescence had more episodes/year and more psychiatric co-morbidity. Family history was most prevalent with childhood onset, similar over onset ages 12-40 years, and fell sharply thereafter. Multivariate modeling sustained the impression that family history and poor functional, but not symptomatic, outcomes were associated with younger, especially childhood onset. Early onset was more related to poor functional outcomes than greater symptomatic morbidity, with least favorable outcomes and greater family history with childhood onset. PMID:22295008

  18. The Objective Identification and Quantification of Interstitial Lung Abnormalities in Smokers.

    PubMed

    Ash, Samuel Y; Harmouche, Rola; Ross, James C; Diaz, Alejandro A; Hunninghake, Gary M; Putman, Rachel K; Onieva, Jorge; Martinez, Fernando J; Choi, Augustine M; Lynch, David A; Hatabu, Hiroto; Rosas, Ivan O; Estepar, Raul San Jose; Washko, George R

    2017-08-01

    Previous investigation suggests that visually detected interstitial changes in the lung parenchyma of smokers are highly clinically relevant and predict outcomes, including death. Visual subjective analysis to detect these changes is time-consuming, insensitive to subtle changes, and requires training to enhance reproducibility. Objective detection of such changes could provide a method of disease identification without these limitations. The goal of this study was to develop and test a fully automated image processing tool to objectively identify radiographic features associated with interstitial abnormalities in the computed tomography scans of a large cohort of smokers. An automated tool that uses local histogram analysis combined with distance from the pleural surface was used to detect radiographic features consistent with interstitial lung abnormalities in computed tomography scans from 2257 individuals from the Genetic Epidemiology of COPD study, a longitudinal observational study of smokers. The sensitivity and specificity of this tool was determined based on its ability to detect the visually identified presence of these abnormalities. The tool had a sensitivity of 87.8% and a specificity of 57.5% for the detection of interstitial lung abnormalities, with a c-statistic of 0.82, and was 100% sensitive and 56.7% specific for the detection of the visual subtype of interstitial abnormalities called fibrotic parenchymal abnormalities, with a c-statistic of 0.89. In smokers, a fully automated image processing tool is able to identify those individuals who have interstitial lung abnormalities with moderate sensitivity and specificity. Copyright © 2017 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

  19. Clinical outcome and cerebrospinal fluid profiles in patients with tick-borne encephalitis and prior vaccination history.

    PubMed

    Lenhard, Thorsten; Ott, Daniela; Jakob, Nurith J; Martinez-Torres, Francisco; Grond-Ginsbach, Caspar; Meyding-Lamadé, Uta

    2018-05-01

    Tick-borne encephalitis (TBE) is endemic in southern and eastern districts of Germany. Approximately 10-14% of the infected individuals suffer from long-term disability and in 1.5-3.6% the course is fatal. Two well-tolerated vaccines are available, which provide high protection and which have been confirmed in several field studies. Here we investigate clinical course, long-term outcome and cerebrospinal fluid (CSF) characteristics of TBE cases with a prior history of any vaccination as well as real vaccination breakthrough (VBT). A case series of 11 patients with a prior history of vaccination, part of a recently published lager cohort of 111 TBE cases. Evaluation included clinical data, degree of disability (modified RANKIN scale, mRS) and analysis of CSF and serum samples. Furthermore, metadata for extended analysis on clinical outcome of TBE with VBT were analysed. One patient had a clear VBT and ten of them had irregular vaccinations schedules (IVS). Infection severity did not differ in patients with IVS as compared to a non-vaccinated control cohort (median mRS: both 3.0) but these patients showed a stronger cellular immune response as measured by CSF pleocytosis (IVS, 205 cells/μL versus non-vaccinated control, 114 cell/μL, P < 0.05) and by differential pattern of CSF (intrathecal) immunoglobulin synthesis. However, shift analysis of VBT metadata using linear-by-linear association revealed a more serious course of TBE in patients with VBT than in a non-vaccinated control cohort (χ 2  = 9.95, P = 0.002). Furthermore, ordinal logistic regression analysis showed that VBT patients had an age-corrected, 2.65 fold (CI: 1.110-6.328; χ 2  = 4.813; p = 0.028) significant higher risk to suffer from moderate or severe infections, respectively. A history of IVS surprisingly seems to have no impact on the clinical course of TBE but may leave marks in the specific brain immune response. VBT patients, however, carry an age-independent, significant

  20. Abnormal parietal encephalomalacia associated with schizophrenia: A case report.

    PubMed

    Pan, Fen; Wang, Jun-Yuan; Xu, Yi; Huang, Man-Li

    2017-03-01

    It is widely believed that structural abnormalities of the brain contribute to the pathophysiology of schizophrenia. The parietal lobe is a central hub of multisensory integration, and abnormities in this region might account for the clinical features of schizophrenia. However, few cases of parietal encephalomalacia associated with schizophrenia have been described. In this paper, we present a case of a 25-year-old schizophrenia patient with abnormal parietal encephalomalacia. The patient had poor nutrition and frequently had upper respiratory infections during childhood and adolescence. She showed severe schizophrenic symptoms such as visual hallucinations for 2 years. After examining all her possible medical conditions, we found that the patient had a lesion consistent with the diagnosis of encephalomalacia in her right parietal lobe and slight brain atrophy. The patient was prescribed olanzapine (10 mg per day). Her symptoms significantly improved after antipsychotic treatment and were still well controlled 1 year later. This case suggested that parietal encephalomalacia, which might be caused by inflammatory and infectious conditions in early life and be aggravated by undernutrition, might be implicated in the etiology of schizophrenia.

  1. Women's experiences receiving abnormal prenatal chromosomal microarray testing results.

    PubMed

    Bernhardt, Barbara A; Soucier, Danielle; Hanson, Karen; Savage, Melissa S; Jackson, Laird; Wapner, Ronald J

    2013-02-01

    Genomic microarrays can detect copy-number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy-number variants are currently unknown. We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting. Participants were a subset of women participating in a multicenter prospective study "Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis." Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results. We found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge. As prenatal microarray testing is increasingly used, uncertain findings will be common, resulting in greater need for careful pre- and posttest counseling, and more education of and resources for providers so they can adequately support the women who are undergoing testing.

  2. [Hypothesis of the correlation of personality characteristics and the clinical history of bronchogenic cancer].

    PubMed

    Beltrami, V; Buonsanto, A; Di Nuzzo, D; Lattanzio, R

    1995-01-01

    A correlation between the personality profile and the clinical history in lung cancer patients was studied. Selection of cases included in the sample only surgical patients with a medium educational level and a tested capability to understand a specific questionnaire. One hundred and seventy patients were selected and the so-called C.R.I.C.S. (Clinical-Rated Inventory of Character Style) was applied. Score variations were recorded after curative resection as well as during relapse. Changes in the character profile pattern were found in all subjects who experienced the disease and its surgical treatment. These changes occurred either in "regression"-with an increase of schizoid, narcissistic or hysterical aspects-or in a "positive evolution", with a decrease of paranoid traits and into a depressive position. The two groups of responses demonstrated a similar percentage.

  3. Reasons for Ineligibility in Phase 1 and 2A HIV Vaccine Clinical Trials at Kenya Aids Vaccine Initiative (KAVI), Kenya

    PubMed Central

    Omosa-Manyonyi, Gloria S.; Jaoko, Walter; Anzala, Omu; Ogutu, Hilda; Wakasiaka, Sabina; Malogo, Roselyn; Nyange, Jacqueline; Njuguna, Pamela; Ndinya-Achola, Jeckoniah; Bhatt, Kirana; Farah, Bashir; Oyaro, Micah; Schmidt, Claudia; Priddy, Frances; Fast, Patricia

    2011-01-01

    Background With the persistent challenges towards controlling the HIV epidemic, there is an ongoing need for research into HIV vaccines and drugs. Sub-Saharan African countries - worst affected by the HIV pandemic - have participated in the conduct of clinical trials for HIV vaccines. In Kenya, the Kenya AIDS Vaccine Initiative (KAVI) at the University of Nairobi has conducted HIV vaccine clinical trials since 2001. Methodology Participants were recruited after an extensive informed consent process followed by screening to determine eligibility. Screening included an assessment of risk behavior, medical history and physical examination, and if clinically healthy, laboratory testing. In the absence of locally derived laboratory reference ranges, the ranges used in these trials were derived from populations in the West. Principal findings Two hundred eighty-one participants were screened between 2003 and 2006 for two clinical trials. Of these, 167 (59.4%) met the inclusion/exclusion criteria. Overall, laboratory abnormalities based on the non-indigenous laboratory references used were the most frequent reasons (61.4%) for ineligibility. Medical abnormalities contributed 30.7% of the total reasons for ineligibility. Based on the laboratory reference intervals now developed from East and Southern Africa, those ineligible due to laboratory abnormalities would have been 46.3%. Of the eligible participants, 18.6% declined enrolment. Conclusions Participant recruitment for HIV vaccine clinical trials is a rigorous and time-consuming exercise. Over 61% of the screening exclusions in clinically healthy people were due to laboratory abnormalities. It is essential that laboratory reference ranges generated from local populations for laboratory values be used in the conduct of clinical trials to avoid unnecessary exclusion of willing participants and to avoid over-reporting of adverse events for enrolled participants. Trial registration Protocol IAVI VRC V001 [1]. Clinical

  4. Infrastructure for Clinical Trials in Duchenne Dystrophy

    DTIC Science & Technology

    2010-09-13

    Diagnosis Review v1.0 No-Duplicate Inclusion/Exclusion v1.0 No-Duplicate Inclusion/Exclusion MRI v1.0 No-Duplicate Medication History v1.0 Yes Medical...and Surgical Events v1.0 Yes Laboratory Collection v1.0 Yes Cardiology v1.1 Yes Central Cardiology Read Yes Central MRI Read Yes Adverse Event...Developmental Delay: Family History? Yes No Unsure Yes No Unsure Hypotonia: Family History? Yes No Unsure Yes No Unsure Abnormal MRI : Family

  5. New molecular abnormalities and clonal architecture in AML: from reciprocal translocations to whole-genome sequencing.

    PubMed

    Graubert, Timothy A; Brunner, Andrew M; Fathi, Amir T

    2014-01-01

    Acute myeloid leukemia (AML) is characterized by recurrent genetic alterations, including amplifications, deletions, rearrangements, and point mutations. Clinically, these lesions can be used to stratify patients into categories of risk, which directs further clinical management and prognostication. Patient risk categories were first described based on recurrent karyotypic abnormalities; most patients with AML, however, fall into intermediate cytogenetic risk, the majority harboring a normal karyotype. Subsequently, identification of recurrently mutated genes, including FLT3, NPM1, and CEBPA, allowed further stratification of patients with a normal karyotype. More extensive genomic and epigenomic analysis of AML samples has expanded the number of known molecular alterations present in this disease. The further understanding of this mutational landscape has shed light into the pathogenesis of AML. AML arises in a founding clone that often gives rise to subclones. Clonal evolution is a feature of the natural history of the disease but may also be influenced by the selective pressure of chemotherapy. The complex network of genetic and epigenetic alterations in this disease has yielded numerous new targets for intervention. In the future, further understanding of this mutational framework, along with the development of novel therapeutic targets, may lead to improved outcomes for patients with AML.

  6. Abnormalities of the erythrocyte membrane.

    PubMed

    Gallagher, Patrick G

    2013-12-01

    Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Growing recognition of the long-term risks of splenectomy has led to re-evaluation of the role of splenectomy. Management guidelines acknowledge these considerations and recommend discussion between health care providers, patient, and family. The hereditary elliptocytosis syndromes are the most common primary disorders of erythrocyte membrane proteins. However, most elliptocytosis patients are asymptomatic and do not require therapy. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Noninvasive evaluation of corneal abnormalities using static and dynamic light scattering

    NASA Astrophysics Data System (ADS)

    Ansari, Rafat R.; Misra, Anup K.; Leung, Alfred B.; King, James F.; Datiles, Manuel B., III

    2002-06-01

    A preliminary study of corneal abnormalities in intact bovine eyes is presented. Twenty-one eyes were treated with chemicals, cotton swabs, and radial and photo-refractive surgeries. Dynamic and static light scattering was performed as a function of the penetration depth into the corneal tissue. Topographical maps of corneal refractive power from untreated and treated corneas were also obtained using videokeratoscopy and results compared. The ultimate aim is to develop the technique of dynamic light scattering (DLS) for clinical applications in early evaluation of corneal complications after laser-assisted in situ keratomileusis (LASIK) surgeries and other corneal abnormalities.

  8. Quantification of abnormal intracranial pressure waves and isotope cisternography for diagnosis of occult communicating hydrocephalus

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Cardoso, E.R.; Piatek, D.; Del Bigio, M.R.

    1989-01-01

    Nineteen consecutive patients with suspected occult communicating hydrocephalus were investigated by means of clinical evaluation, neuropsychological testing, isotope cisternography, computed tomography scanning, and continuous intracranial pressure monitoring. Semi-quantitative grading systems were used in the evaluation of the clinical, neuropsychological, and cisternographic assessments. Clinical examination, neuropsychological testing, and computed tomography scanning were repeated 3 months after ventriculoperitoneal shunting. All patients showed abnormal intracranial pressure waves and all improved after shunting. There was close correlation between number, peak, and pulse pressures of B waves and the mean intracranial pressure. However, quantification of B waves by means of number, frequency, and amplitude didmore » not help in predicting the degree of clinical improvement postshunting. The most sensitive predictor of favorable response to shunting was enlargement of the temporal horns on computed tomography scan. Furthermore, the size of temporal horns correlated with mean intracranial pressure. There was no correlation between abnormalities on isotope cisternography and clinical improvement.« less

  9. Schizophrenia clinical symptom differences in women vs. men with and without a history of childhood physical abuse.

    PubMed

    Kelly, Deanna L; Rowland, Laura M; Patchan, Kathleen M; Sullivan, Kelli; Earl, Amber; Raley, Heather; Liu, Fang; Feldman, Stephanie; McMahon, Robert P

    2016-01-01

    Childhood abuse has been implicated as an environmental factor that increases the risk for developing schizophrenia. A recent large population-based case-control study found that abuse may be a risk factor for schizophrenia in women, but not men. Given the sex differences in onset and clinical course of schizophrenia, we hypothesized that childhood abuse may cause phenotypic differences in the disorder between men and women. We examined the prevalence of childhood physical abuse in a cohort of men and women with schizophrenia and schizoaffective disorder. Specifically, we examined differences in positive, negative, cognitive and depressive symptoms in men and women who reported a history of childhood physical abuse. We recruited 100 subjects for a single visit and assessed a history of childhood physical abuse using the childhood trauma questionnaire (CTQ) and clinical symptoms and cognition using the brief psychiatric rating scale (BPRS), the calgary depression scale (CDS) and the repeatable battery of the assessment of neuropsychological status (RBANS) for cognition. Ninety-two subjects completed the full CTQ with abuse classified as definitely present, definitely absent or borderline. Twelve subjects who reported borderline abuse scores were excluded. Of the 80 subjects whose data was analyzed, 10 of 24 (41.6 %) women and 11 of 56 (19.6 %) men reported a history of childhood physical abuse (χ(2) = 4.21, df = 1, p = 0.04). Women who reported such trauma had significantly more psychotic (sex by abuse interaction; F = 4.03, df = 1.76, p = 0.048) and depressive (F = 4.23, df = 1.76, p = 0.04) symptoms compared to women who did not have a trauma history and men, regardless of trauma history. There were no differences in negative or cognitive symptoms. Women with schizophrenia and schizoaffective disorder may represent a distinct phenotype or subgroup with distinct etiologies and may require different, individually tailored treatments.

  10. Saccades and Vergence Performance in a Population of Children with Vertigo and Clinically Assessed Abnormal Vergence Capabilities

    PubMed Central

    Bucci, Maria Pia; Kapoula, Zoï; Bui-Quoc, Emmanuel; Bouet, Aurelie; Wiener-Vacher, Sylvette

    2011-01-01

    Purpose Early studies reported some abnormalities in saccade and vergence eye movements in children with vertigo and vergence deficiencies. The purpose of this study was to further examine saccade and vergence performance in a population of 44 children (mean age: 12.3±1.6 years) with vertigo symptoms and with different levels of vergence abnormalities, as assessed by static orthoptic examination (near point of convergence, prism bar and cover-uncover test). Methods Three groups were identified on the basis of the orthoptic tests: group 1 (n = 13) with vergence spasms and mildly perturbed orthoptic scores, group 2 (n = 14) with moderately perturbed orthoptic scores, and group 3 (n = 17) with severely perturbed orthoptic scores. Data were compared to those recorded from 28 healthy children of similar ages. Latency, accuracy and peak velocity of saccades and vergence movements were measured in two different conditions: gap (fixation offset 200 ms prior to target onset) and simultaneous paradigms. Binocular horizontal movements were recorded by a photoelectric device. Results Group 2 of children with vergence abnormalities showed significantly longer latency than normal children in several types of eye movements recorded. For all three groups of children with vergence abnormalities, the gain was poor, particularly for vergence movement. The peak velocity values did not differ between the different groups of children examined. Interpretation Eye movement measures together with static orthoptic evaluation allowed us to better identify children with vergence abnormalities based on their slow initiation of eye movements. Overall, these findings support the hypothesis of a central deficit in the programming and triggering of saccades and vergence in these children. PMID:21858007

  11. Association of abnormal morphology and altered gene expression in human preimplantation embryos.

    PubMed

    Wells, Dagan; Bermúdez, Mercedes G; Steuerwald, Nury; Malter, Henry E; Thornhill, Alan R; Cohen, Jacques

    2005-08-01

    We set out to characterize the expression of nine genes in human preimplantation embryos and determine whether abnormal morphology is associated with altered gene activity. Reverse transcription and real-time polymerase chain reaction were used to quantify the expression of multiple genes in each embryo. The genes studied have various important cellular roles (e.g., cell cycle regulation, DNA repair, and apoptosis). Research laboratory working closely with a clinical IVF practice. Over 50 embryos were donated by infertile patients (various etiologies). Among these, all major stages of preimplantation development and a variety of common morphologic abnormalities were represented. None. Quantification of mRNA transcripts. We detected an association between certain forms of abnormal morphology and disturbances of gene activity. Cellular fragmentation was associated with altered expression of several genes, including TP53, suggesting that fragmenting blastomeres are suffering stress of a type monitored by p53, possibly as a consequence of suboptimal culture conditions. Appropriate gene expression is vital for the regulation of metabolic pathways and key developmental events. Our data indicates a possible causal relationship between changes in gene expression and the formation of clinically relevant abnormal embryo morphologies. We hypothesize that embryos with expression profiles characteristic of good morphology and appropriate for their developmental stage have the greatest potential for implantation. If confirmed, this could lead to a new generation of preimplantation genetic diagnosis (PGD) tests for assessing embryo viability and predicting implantation potential.

  12. Subclinical metabolic abnormalities associated with obesity in prepubertal Mexican schoolchildren.

    PubMed

    Romero, Juana B; Briones, Evangelina; Palacios, Gerardo C; Castelán, Kathia

    2010-06-01

    Childhood obesity has increased to epidemic levels and is considered a public health problem due to its association with a number of metabolic abnormalities, which are being detected at earlier stages of life. The objective was to evaluate the association between the presence of subclinical metabolic abnormalities (SMA) and obesity in a sample of pre-pubertal Mexican schoolchildren. Children of both sexes and 6 to 13 years old were questioned for signs of puberty, underwent anthropometric measurement and had their Body Mass Index (BMI) calculated. Two groups were formed: those with obesity (case group) and those with normal weight paired by age and chosen randomly (control group). Fasting insulin, glucose and cholesterol were measured. 92 children were included, 46 in each group, mean age 9.9 and 9.5 years old, respectively (p = 0.97). A higher frequency of hyperinsulinism was found in the case group: Fasting insulin > 15 mU/ml, 75% vs. 21% (case group vs. control group, respectively); fasting glucose to insulin ratio < 6, 72% vs. 24%; HOMA IR > 2.7, 83% vs. 14%; and decrease in QUICKI (< 0.3), 80% vs. 19% (p = 0.000). Hypercholesterolemia was 25% vs. 15% (p = 0.22), impaired fasting glucose 28% vs. 8% (p = 0.01), and family history of diabetes mellitus (DM) 35% vs. 9% (OR = 5.6; 95% CI = 1.5-22.2; p = 0.002). In this sample of Mexican schoolchildren, obesity was associated to a higher frequency of SMA, such as hyperinsulinism and impaired fasting glucose, and to a family history of DM.

  13. Texas Medication Algorithm Project, phase 3 (TMAP-3): clinical results for patients with a history of mania.

    PubMed

    Suppes, Trisha; Rush, A John; Dennehy, Ellen B; Crismon, M Lynn; Kashner, T Michael; Toprac, Marcia G; Carmody, Thomas J; Brown, E Sherwood; Biggs, Melanie M; Shores-Wilson, Kathy; Witte, Bradley P; Trivedi, Madhukar H; Miller, Alexander L; Altshuler, Kenneth Z; Shon, Steven P

    2003-04-01

    The Texas Medication Algorithm Project (TMAP) assessed the clinical and economic impact of algorithm-driven treatment (ALGO) as compared with treatment-as-usual (TAU) in patients served in public mental health centers. This report presents clinical outcomes in patients with a history of mania (BD), including bipolar I and schizoaffective disorder, bipolar type, during 12 months of treatment beginning March 1998 and ending with the final active patient visit in April 2000. Patients were diagnosed with bipolar I disorder or schizoaffective disorder, bipolar type, according to DSM-IV criteria. ALGO was comprised of a medication algorithm and manual to guide treatment decisions. Physicians and clinical coordinators received training and expert consultation throughout the project. ALGO also provided a disorder-specific patient and family education package. TAU clinics had no exposure to the medication algorithms. Quarterly outcome evaluations were obtained by independent raters. Hierarchical linear modeling, based on a declining effects model, was used to assess clinical outcome of ALGO versus TAU. ALGO and TAU patients showed significant initial decreases in symptoms (p =.03 and p <.001, respectively) measured by the 24-item Brief Psychiatric Rating Scale (BPRS-24) at the 3-month assessment interval, with significantly greater effects for the ALGO group. Limited catch-up by TAU was observed over the remaining 3 quarters. Differences were also observed in measures of mania and psychosis but not in depression, side-effect burden, or functioning. For patients with a history of mania, relative to TAU, the ALGO intervention package was associated with greater initial and sustained improvement on the primary clinical outcome measure, the BPRS-24, and the secondary outcome measure, the Clinician-Administered Rating Scale for Mania (CARS-M). Further research is planned to clarify which elements of the ALGO package contributed to this between-group difference.

  14. The induction of chromosomal abnormalities by inhalational anaesthetics.

    PubMed

    Grant, C J; Powell, J N; Radford, S G

    1977-06-01

    When Vicia faba root tips are exposed for 2 h to clinically useful concentrations of halothane or methoxyflurane in air, or to halothane in 80% nitrous oxide/20% oxygen, there is a transient increase in mitotic index and then abnormal interphase cells are produced in proportion to the anaesthetic concentrations. After exposure there is a period of mitotic inhibition during which the cells become partially synchronised. When colchicine-metaphase cells collected 28 h after exposure are compared with controls and with metaphases collected only 4 h after exposure, they show a significant increase in the incidence of aneuploidy, tetraploidy and the results of chromosome breakage. It is suggested that all the abnormalities seen can be accounted for by the effects of the anaesthetics on spindle movements, and that at the concentrations used the anaesthetics have no mutagenic effects on chromosomes in interphase.

  15. [History of clinical pharmacology in France: adaptation, evaluation, defense and illustration of drug in France 1978-1981].

    PubMed

    Montastruc, Paul

    2014-01-01

    This text illustrates some unknown aspects of the history and beginnings of clinical pharmacology in France in the late 1970s and early 1980s From the current situation, development and objectives of clinical pharmacology are recalled as well as obstacles necessary to overcome to change the paradigm in the field of drug evaluation and appropriate use in France. The text recalls this important moment where French medicine and medical pharmacology entered the modern era. © 2014 Société Française de Pharmacologie et de Thérapeutique.

  16. Clinical practice guidelines on menorrhagia: management of abnormal uterine bleeding before menopause.

    PubMed

    Marret, H; Fauconnier, A; Chabbert-Buffet, N; Cravello, L; Golfier, F; Gondry, J; Agostini, A; Bazot, M; Brailly-Tabard, S; Brun, J-L; De Raucourt, E; Gervaise, A; Gompel, A; Graesslin, O; Huchon, C; Lucot, J-P; Plu-Bureau, G; Roman, H; Fernandez, H

    2010-10-01

    Normal menstrual periods last 3-6 days and involve blood loss of up to 80ml. Menorrhagia is defined as menstrual periods lasting more than 7 days and/or involving blood loss greater than 80ml. The prevalence of abnormal uterine bleeding (AUB) is estimated at 11-13% in the general population and increases with age, reaching 24% in those aged 36-40 years. A blood count for red cells+platelets to test for anemia is recommended on a first-line basis for women consulting for AUB whose history and/or bleeding score justify it. A pregnancy test by an hCG assay should be ordered. A speculum examination and Pap smear, according to the French High Health Authority guidelines should be performed early on to rule out any cervical disease. Pelvic ultrasound, both abdominal (suprapubic) and transvaginal, is recommended as a first-line procedure for the etiological diagnosis of AUB. Hysteroscopy or hysterosonography can be suggested as a second-line procedure. MRI is not recommended as a first-line procedure. In idiopathic AUB, the first-line treatment is medical, with efficacy ranked as follows: levonorgestrel IUD, tranexamic acid, oral contraceptives, either estrogens and progestins or synthetic progestins only, 21 days a month, or NSAIDs. When hormone treatment is contraindicated or immediate pregnancy is desired, tranexamic acid is indicated. Iron must be included for patients with iron-deficiency anemia. For women who do not wish to become pregnant in the future and who have idiopathic AUB, the long-term efficacy of conservative surgical treatment is greater than that of oral medical treatment. Placement of a levonorgestrel IUD (or administration of tranexamic acid by default) is recommended for women with idiopathic AUB. If this fails, a conservative surgical technique must be proposed; the choices include second-generation endometrial ablation techniques (thermal balloon, microwave, radiofrequency), or, if necessary, first-generation techniques (endometrectomy, roller

  17. Endometrial Polyps and Abnormal Uterine Bleeding (AUB-P): What is the relationship, how are they diagnosed and how are they treated?

    PubMed

    Clark, T Justin; Stevenson, Helen

    2017-04-01

    The diagnosis and treatment of endometrial polyps will be familiar to most gynaecologists. However, the aetiology and natural history of these focal intrauterine lesions are yet to be elucidated. This lack of clarity is also true with regard to their clinical significance; whilst endometrial polyps are highly prevalent in all types of abnormal uterine bleeding (AUB), they are also commonly found in women without AUB. These controversies will be discussed along with current thoughts on the diagnosis and treatment of endometrial polyps. Criteria for diagnosis of uterine polyps vary according to the test used, but optimal testing is not yet solidified. Recent data from randomised trials evaluating new and established surgical technologies as well as comparing treatment protocols and settings will be examined. Copyright © 2016. Published by Elsevier Ltd.

  18. Cell cycle regulatory gene abnormalities are important determinants of leukemogenesis and disease biology in adult acute lymphoblastic leukemia.

    PubMed

    Stock, W; Tsai, T; Golden, C; Rankin, C; Sher, D; Slovak, M L; Pallavicini, M G; Radich, J P; Boldt, D H

    2000-04-01

    To test the hypothesis that cell cycle regulatory gene abnormalities are determinants of clinical outcome in adult acute lymphoblastic leukemia (ALL), we screened lymphoblasts from patients on a Southwest Oncology Group protocol for abnormalities of the genes, retinoblastoma (Rb), p53, p15(INK4B), and p16(INK4A). Aberrant expression occurred in 33 (85%) patients in the following frequencies: Rb, 51%; p16(INK4A), 41%; p53, 26%. Thirteen patients (33%) had abnormalities in 2 or more genes. Outcomes were compared in patients with 0 to 1 abnormality versus patients with multiple abnormalities. The 2 groups did not differ in a large number of clinical and laboratory characteristics. The CR rates for patients with 0 to 1 and multiple abnormalities were similar (69% and 54%, respectively). Patients with 0 to 1 abnormality had a median survival time of 25 months (n = 26; 95% CI, 13-46 months) versus 8 months (n = 13; 95% CI, 4-12 months) for those with multiple abnormalities (P <.01). Stem cells (CD34+lin-) were isolated from adult ALL bone marrows and tested for p16(INK4A) expression by immunocytochemistry. In 3 of 5 patients lymphoblasts and sorted stem cells lacked p16(INK4A) expression. In 2 other patients only 50% of sorted stem cells expressed p16(INK4A). By contrast, p16 expression was present in the CD34+ lin- compartment in 95% (median) of 9 patients whose lymphoblasts expressed p16(INK4A). Therefore, cell cycle regulatory gene abnormalities are frequently present in adult ALL lymphoblasts, and they may be important determinants of disease outcome. The presence of these abnormalities in the stem compartment suggests that they contribute to leukemogenesis. Eradication of the stem cell subset harboring these abnormalities may be important to achieve cure.

  19. Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

    PubMed

    Nakajima, Junya; Oana, Shingo; Sakaguchi, Tomohiro; Nakashima, Mitsuko; Numabe, Hironao; Kawashima, Hisashi; Matsumoto, Naomichi; Miyake, Noriko

    2018-04-01

    The diphthamide biosynthesis 1 (DPH1) gene encodes one of the essential components of the enzyme catalyzing the first step of diphthamide formation on eukaryotic elongation factor 2 (EEF2). Diphthamide is the posttranslationally modified histidine residue on EEF2 that promotes protein chain elongation in the ribosome. DPH1 defects result in a failure of protein synthesis involving EEF2, leading to growth defects, embryonic lethality, and cell death. In humans, DPH1 mutations cause developmental delay with a short stature, dysmorphic features, and sparse hair, and are inherited in an autosomal recessive manner (MIM#616901). To date, only two homozygous missense mutations in DPH1 (c.17T>A, p.Met6Lys and c.701T>C, p.Leu234Pro) have been reported. We used WES to identify novel compound heterozygous mutations in DPH1 (c.289delG, p.Glu97Lysfs*8 and c.491T>C, p.Leu164Pro) in a patient from a nonconsanguineous family presenting with intellectual disability, a short stature, craniofacial abnormalities, and external genital abnormalities. The clinical phenotype of all patients with DPH1 mutations, including the current patient, revealed core features, although the external genital anomaly was newly recognized in our case.

  20. Oropharyngeal flora in patients admitted to the medical intensive care unit: clinical factors and acid suppressive therapy.

    PubMed

    Frandah, Wesam; Colmer-Hamood, Jane; Mojazi Amiri, Hoda; Raj, Rishi; Nugent, Kenneth

    2013-05-01

    Acid suppression therapy in critically ill patients significantly reduces the incidence of stress ulceration and gastrointestinal (GI) bleeding; however, recent studies suggest that proton pump inhibitors (PPIs) increase the risk of pneumonia. We wanted to test the hypothesis that acid suppressive therapy promotes alteration in the bacterial flora in the GI tract and leads to colonization of the upper airway tract with pathogenic species, potentially forming the biological basis for the observed increased incidence of pneumonia in these patients. This was a prospective observational study on patients (adults 18 years or older) admitted to the medical intensive care unit (MICU) at a tertiary care centre. Exclusion criteria included all patients with a diagnosis of pneumonia at admission, with infection in the upper airway, or with a history of significant dysphagia. Oropharyngeal cultures were obtained on day 1 and days 3 or 4 of admission. We collected data on demographics, clinical information, and severity of the underlying disease using APACHE II scores. There were 110 patients enrolled in the study. The mean age was 49±16 years, 50 were women, and the mean APACHE II score was 9.8 ± 6.5. Twenty per cent of the patients had used a PPI in the month preceding admission. The first oropharyngeal specimen was available in 110 cases; a second specimen at 72-96 h was available in 68 cases. Seventy-five per cent of the patients admitted to the MICU had abnormal flora. In multivariate logistic regression, diabetes mellitus and PPI use were associated with abnormal oral flora on admission. Chronic renal failure and a higher body mass index reduced the frequency of abnormal oral flora on admission. Most critically ill patients admitted to our MICU have abnormal oral flora. Patients with diabetes and a history of recent PPI use are more likely to have abnormal oral flora on admission.

  1. Amygdala abnormalities in first-degree relatives of individuals with schizophrenia unmasked by benzodiazepine challenge

    PubMed Central

    Wolf, Daniel H.; Satterthwaite, Theodore D.; Loughead, James; Pinkham, Amy; Overton, Eve; Elliott, Mark A.; Dent, Gersham W.; Smith, Mark A.; Gur, Ruben C.; Gur, Raquel E.

    2014-01-01

    Rationale Impaired emotion processing in schizophrenia predicts broader social dysfunction and has been related to negative symptom severity and amygdala dysfunction. Pharmacological modulation of emotion-processing deficits and related neural abnormalities may provide useful phenotypes for pathophysiological investigation. Objectives We used an acute benzodiazepine challenge to identify and modulate potential emotion-processing abnormalities in 20 unaffected first-degree relatives of individuals with schizophrenia, compared to 25 control subjects without a family history of psychosis. Methods An oral 1mg dose of the short-acting anxiolytic benzodiazepine alprazolam was administered in a balanced crossover placebo-controlled double-blind design, preceding identical 3T fMRI sessions approximately 1 week apart. Primary outcomes included fMRI activity in amygdala and related regions during two facial emotion-processing tasks: emotion identification and emotion memory. Results Family members exhibited abnormally strong alprazolam-induced reduction in amygdala and hippocampus activation during emotion identification, compared to equal reduction in both groups for the emotion memory task. Conclusions GABAergic modulation with alprazolam produced differential responses in family members vs. controls, perhaps by unmasking underlying amygdalar and/or GABAergic abnormalities. Such pharmacological fMRI paradigms could prove useful for developing drugs targeting specific neural circuits to treat or prevent schizophrenia. PMID:21603892

  2. Natural history of Barrett's esophagus.

    PubMed

    Milind, Rao; Attwood, Stephen E

    2012-07-21

    The natural history of Barrett's esophagus (BE) is difficult to quantify because, by definition, it should describe the course of the condition if left untreated. Pragmatically, we assume that patients with BE will receive symptomatic treatment with acid suppression, usually a proton pump inhibitor, to treat their heartburn. This paper describes the development of complications of stricture, ulcer, dysplasia and adenocarcinoma from this standpoint. Controversies over the definition of BE and its implications in clinical practice are presented. The presence of intestinal metaplasia and its relevance to cancer risk is discussed, and the need to measure the extent of the Barrett's epithelium (long and short segments) using the Prague guidelines is emphasized. Guidelines and international consensus over the diagnosis and management of BE are being regularly updated. The need for expert consensus is important due to the lack of randomized trials in this area. After searching the literature, we have tried to collate the important studies regarding progression of Barrett's to dysplasia and adenocarcinoma. No therapeutic studies yet reported show a clear reduction in the development of cancer in BE. The effect of pharmacological and surgical intervention on the natural history of Barrett's is a subject of ongoing research, including the Barrett's Oesophagus Surveillance Study and the aspirin and esomeprazole cancer chemoprevention trial with interesting results. The geographical variation and the wide range of outcomes highlight the difficulty of providing an individualized risk profile to patients with BE. Future studies on the interaction of genome wide abnormalities in Barrett's and their interaction with environmental factors may allow individualization of the risk of cancer developing in BE.

  3. Natural history of Barrett's esophagus

    PubMed Central

    Milind, Rao; Attwood, Stephen E

    2012-01-01

    The natural history of Barrett’s esophagus (BE) is difficult to quantify because, by definition, it should describe the course of the condition if left untreated. Pragmatically, we assume that patients with BE will receive symptomatic treatment with acid suppression, usually a proton pump inhibitor, to treat their heartburn. This paper describes the development of complications of stricture, ulcer, dysplasia and adenocarcinoma from this standpoint. Controversies over the definition of BE and its implications in clinical practice are presented. The presence of intestinal metaplasia and its relevance to cancer risk is discussed, and the need to measure the extent of the Barrett’s epithelium (long and short segments) using the Prague guidelines is emphasized. Guidelines and international consensus over the diagnosis and management of BE are being regularly updated. The need for expert consensus is important due to the lack of randomized trials in this area. After searching the literature, we have tried to collate the important studies regarding progression of Barrett’s to dysplasia and adenocarcinoma. No therapeutic studies yet reported show a clear reduction in the development of cancer in BE. The effect of pharmacological and surgical intervention on the natural history of Barrett’s is a subject of ongoing research, including the Barrett’s Oesophagus Surveillance Study and the aspirin and esomeprazole cancer chemoprevention trial with interesting results. The geographical variation and the wide range of outcomes highlight the difficulty of providing an individualized risk profile to patients with BE. Future studies on the interaction of genome wide abnormalities in Barrett’s and their interaction with environmental factors may allow individualization of the risk of cancer developing in BE. PMID:22826612

  4. History of incomplete vaccination may associate with occurrence of hemorrhagic fever with renal syndrome with relieved clinical symptoms.

    PubMed

    Chen, Yunru; Yang, Xueliang; Ye, Feng; Chen, Tianyan; Liu, Zhengwen; Zhao, Yingren

    2016-07-01

    This retrospective study is aimed to investigate the clinical features of the patients with history of incomplete vaccination against hemorrhagic fever with renal syndrome (HFRS). Data of 140 cases of hospitalized patients with HFRS were collected. The patients were divided into incomplete vaccinated group (n = 10) and unvaccinated group (n = 130) according to vaccination status. Demographic, clinical, and laboratory characteristics of the two groups' patients were compared through t test, Pearson χ(2) test, and Mann-Whitney test. In comparison with the unvaccinated group, the incidence rate of vomiting and hypotensive-shock, the white blood cell (WBC) and platelet count, the level of blood urea nitrogen and albumin, total number of dialysis and hospitalization cost of patients in the incomplete vaccinated group have statistically significant differences. HFRS disease may still occur in individuals with a history of HFRS incomplete vaccination although the symptoms may be mild. Effective vaccination against HFRS needs sufficient doses and booster shot of the vaccine. © 2015 Wiley Periodicals, Inc.

  5. Retinal Layer Abnormalities as Biomarkers of Schizophrenia.

    PubMed

    Samani, Niraj N; Proudlock, Frank A; Siram, Vasantha; Suraweera, Chathurie; Hutchinson, Claire; Nelson, Christopher P; Al-Uzri, Mohammed; Gottlob, Irene

    2018-06-06

    Schizophrenia is associated with several brain deficits, as well as visual processing deficits, but clinically useful biomarkers are elusive. We hypothesized that retinal layer changes, noninvasively visualized using spectral-domain optical coherence tomography (SD-OCT), may represent a possible "window" to these abnormalities. A Leica EnvisuTM SD-OCT device was used to obtain high-resolution central foveal B-scans in both eyes of 35 patients with schizophrenia and 50 demographically matched controls. Manual retinal layer segmentation was performed to acquire individual and combined layer thickness measurements in 3 macular regions. Contrast sensitivity was measured at 3 spatial frequencies in a subgroup of each cohort. Differences were compared using adjusted linear models and significantly different layer measures in patients underwent Spearman Rank correlations with contrast sensitivity, quantified symptoms severity, disease duration, and antipsychotic medication dose. Total retinal and photoreceptor complex thickness was reduced in all regions in patients (P < .0001). Segmentation revealed consistent thinning of the outer nuclear layer (P < .001) and inner segment layer (P < .05), as well as a pattern of parafoveal ganglion cell changes. Low spatial frequency contrast sensitivity was reduced in patients (P = .002) and correlated with temporal parafoveal ganglion cell complex thinning (R = .48, P = .01). Negative symptom severity was inversely correlated with foveal photoreceptor complex thickness (R = -.54, P = .001) and outer nuclear layer thickness (R = -.47, P = .005). Our novel findings demonstrate considerable retinal layer abnormalities in schizophrenia that are related to clinical features and visual function. With time, SD-OCT could provide easily-measurable biomarkers to facilitate clinical assessment and further our understanding of the disease.

  6. Abuse of Amphetamines and Structural Abnormalities in Brain

    PubMed Central

    Berman, Steven; O’Neill, Joseph; Fears, Scott; Bartzokis, George; London, Edythe D.

    2009-01-01

    We review evidence that structural brain abnormalities are associated with abuse of amphetamines. A brief history of amphetamine use/abuse, and evidence for toxicity is followed by a summary of findings from structural magnetic resonance imaging (MRI) studies of human subjects who had abused amphetamines and children who were exposed to amphetamines in utero. Evidence comes from studies that used a variety of techniques that include manual tracing, pattern matching, voxel-based, tensor-based, or cortical thickness mapping, quantification of white matter signal hyperintensities, and diffusion tensor imaging. Ten studies compared controls to individuals who were exposed to methamphetamine. Three studies assessed individuals exposed to 3-4-methylenedioxymethamphetamine (MDMA). Brain structural abnormalities were consistently reported in amphetamine abusers, as compared to control subjects. These included lower cortical gray matter volume and higher striatal volume than control subjects. These differences might reflect brain features that could predispose to substance dependence. High striatal volumes might also reflect compensation for toxicity in the dopamine-rich basal ganglia. Prenatal exposure was associated with striatal volume that was below control values, suggesting that such compensation might not occur in utero. Several forms of white matter abnormality are also common, and may involve gliosis. Many of the limitations and inconsistencies in the literature relate to techniques and cross-sectional designs, which cannot infer causality. Potential confounding influences include effects of pre-existing risk/protective factors, development, gender, severity of amphetamine abuse, abuse of other drugs, abstinence, and differences in lifestyle. Longitudinal designs in which multimodal datasets are acquired and are subjected to multivariate analyses would enhance our ability to provide general conclusions regarding the associations between amphetamine abuse and brain

  7. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

    PubMed

    Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

    2013-08-01

    XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD.

  8. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

    PubMed Central

    Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

    2013-01-01

    XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD. PMID:23232694

  9. Epidemiology, genetic, natural history and clinical presentation of giant cerebral aneurysms.

    PubMed

    Lonjon, M; Pennes, F; Sedat, J; Bataille, B

    2015-12-01

    Giant cerebral aneurysms represent 5% of intracranial aneurysms, and become symptomatic between 40 and 70 years with a female predominance. In the paediatric population, the giant aneurysm rate is higher than in the adult population. Classified as saccular, fusiform and serpentine, the natural history of giant cerebral aneurysms is characterized by thrombosis, growth and rupture. The pathogenesis of these giant aneurysms is influenced by a number of risk factors, including genetic variables. Genome-wide association studies have identified some chromosomes highlighting candidate genes. Although these giant aneurysms can occur at the same locations as their smaller counterparts, a predilection for the cavernous location has been observed. Giant aneurysms present with symptoms caused by a mass effect depending on their location or by rupture; ischemic manifestations rarely reveal the aneurysm. If the initial clinical descriptions have been back up by imagery, the clinical context with a pertinent analysis of the risk factors remain the cornerstone for the management decisions of these lesions. Five year cumulative rupture rates for patients with giant aneurysm were 40% for those located on the anterior part of circle of Willis and 50% for those on the posterior part. The poor outcome of untreated patients justifies the therapeutic risks. Copyright © 2015. Published by Elsevier Masson SAS.

  10. Pregnancy outcomes among patients with recurrent pregnancy loss and uterine anatomic abnormalities.

    PubMed

    Gabbai, Daniel; Harlev, Avi; Friger, Michael; Steiner, Naama; Sergienko, Ruslan; Kreinin, Andrey; Bashiri, Asher

    2017-07-25

    Different etiologies for recurrent pregnancy loss have been identified, among them are: anatomical, endocrine, genetic, chromosomal and thrombophilia pathologies. To assess medical and obstetric characteristics, and pregnancy outcomes, among women with uterine abnormalities and recurrent pregnancy loss (RPL). This study also aims to assess the impact of uterine anatomic surgical correction on pregnancy outcomes. A retrospective case control study of 313 patients with two or more consecutive pregnancy losses followed by a subsequent (index) pregnancy. Anatomic abnormalities were detected in 80 patients. All patients were evaluated and treated in the RPL clinic at Soroka University Medical Center. Out of 80 patients with uterine anatomic abnormalities, 19 underwent surgical correction, 32 did not and 29 had no clear record of surgical intervention, and thus were excluded from this study. Women with anatomic abnormalities had a higher rate of previous cesarean section (18.8% vs. 8.6%, P=0.022), tended to have a lower number of previous live births (1.05 vs. 1.37, P=0.07), and a higher rate of preterm delivery (22.9% vs. 10%, P=0.037). Using multivariate logistic regression analysis, anatomic abnormality was identified as an independent risk factor for RPL in patients with previous cesarean section after controlling for place of residence, positive genetic/autoimmune/endocrine workup, and fertility problems (OR 7.22; 95% CI 1.17-44.54, P=0.03). Women suffering from anatomic abnormalities tended to have a higher rate of pregnancy loss compared to those without anatomic abnormalities (40% vs. 30.9%, P=0.2). The difference in pregnancy loss rate among women who underwent surgical correction compared to those who did not was not statistically significant. In patients with previous cesarean section, uterine abnormality is an independent risk factor for pregnancy loss. Surgical correction of uterine abnormalities among RPL patients might have the potential to improve live

  11. Nasobronchial allergy and pulmonary function abnormalities among coir workers of Alappuzha.

    PubMed

    Panicker, Venugopal; Karunakaran, Raseela; Ravindran, C

    2010-07-01

    Coir is a commercially important natural fiber obtained from the coconut husk. Coir can be woven into strong twine or rope, and is used for padding mattresses, upholstery, etc. Coir industry provides a major share of occupation to the natives of Alappuzha district of Kerala State. It has been noticed earlier that there is increased incidence of nasobronchial allergy among the population involved in this industry. This study was aimed at recognizing the symptomatology and pulmonary functional impairment among symptomatic coir workers. All coir workers who attended our institute over a period of three years were included in the study. Detailed occupational history was taken; symptom profile was studied in detail, clinical examination and pulmonary function tests conducted. Among the 624 symptomatic coir workers selected for this purpose, 64 patients had purely nasal symptoms, while 560 had symptoms of nasobronchial allergy. 357 patients had reversible obstruction on PFT, while 121 had only small airway obstruction. We conclude that coir work induced nasobronchial allergy and pulmonary function abnormalities. In absence of CT scan and bronchial challenge testing it may be inappropriate to label coir work as occupational hazard. However the present study may be used as thought provoking study to initiate further understanding.

  12. Attention deficit hyperactivity disorder and arrest history: Differential association of clinical characteristics by sex.

    PubMed

    Kolla, Nathan J; van der Maas, Mark; Erickson, Patricia G; Mann, Robert E; Seeley, Jane; Vingilis, Evelyn

    Attention deficit hyperactivity disorder (ADHD) is often cited as a risk factor for criminality. However, many studies do not take other criminogenic variables into account when reporting on this relationship. It is even less clear whether models that include ADHD as a potential risk factor for criminality consider the importance of sex differences. To answer this question, we collected data from a telephone population survey sampling adults over the age of 18 years in the province of Ontario, Canada (final sample size = 5196). Respondents were screened for ADHD using the Adult ADHD Self-Report Version 1.1 Screener (ASRS-V1.1) and four extra items. Problematic drinking was assessed using the Alcohol Use Disorders Identification Test (AUDIT), while cannabis misuse was evaluated using the Alcohol, Smoking and Substance Involvement Screening Test (ASSIST). The Antisocial Personality Disorder Scale from the Mini-International Neuropsychiatric Interview provided a measure of previous conduct disorder symptoms and the 12-item General Health Questionnaire screening procedure was used to gauge general distress. History of arrest was self-reported. Three separate logistic regression analyses (entire sample, male only, and female only) were applied to estimate the association of the foregoing variables with arrest history. In the combined sample, conduct disorder symptoms, problem alcohol use, and problem cannabis use all predicted history of arrest. With regard to the male sample, conduct disorder symptoms, elevated AUDIT and ASSIST scores, and general distress were associated with an arrest history. For the female subsample, only conduct disorder symptoms and problematic cannabis use showed a relationship with criminality. To summarize, ADHD did not predict history of arrest for either subsample or the combined sample. When comparing males and females, conduct disorder symptoms and cannabis misuse exerted stronger effects on history of arrest for females than males

  13. New MR imaging assessment tool to define brain abnormalities in very preterm infants at term.

    PubMed

    Kidokoro, H; Neil, J J; Inder, T E

    2013-01-01

    WM injury is the dominant form of injury in preterm infants. However, other cerebral structures, including the deep gray matter and the cerebellum, can also be affected by injury and/or impaired growth. Current MR imaging injury assessment scales are subjective and are challenging to apply. Thus, we developed a new assessment tool and applied it to MR imaging studies obtained from very preterm infants at term age. MR imaging scans from 97 very preterm infants (< 30 weeks' gestation) and 22 healthy term-born infants were evaluated retrospectively. The severity of brain injury (defined by signal abnormalities) and impaired brain growth (defined with biometrics) was scored in the WM, cortical gray matter, deep gray matter, and cerebellum. Perinatal variables for clinical risks were collected. In very preterm infants, brain injury was observed in the WM (n=23), deep GM (n=5), and cerebellum (n=23). Combining measures of injury and impaired growth showed moderate to severe abnormalities most commonly in the WM (n=38) and cerebellum (n=32) but still notable in the cortical gray matter (n=16) and deep gray matter (n=11). WM signal abnormalities were associated with a reduced deep gray matter area but not with cerebellar abnormality. Intraventricular and/or parenchymal hemorrhage was associated with cerebellar signal abnormality and volume reduction. Multiple clinical risk factors, including prolonged intubation, prolonged parenteral nutrition, postnatal corticosteroid use, and postnatal sepsis, were associated with increased global abnormality on MR imaging. Very preterm infants demonstrate a high prevalence of injury and growth impairment in both the WM and gray matter. This MR imaging scoring system provides a more comprehensive and objective classification of the nature and extent of abnormalities than existing measures.

  14. Abnormal uterine bleeding: advantages of formal classification to patients, clinicians and researchers.

    PubMed

    Madhra, Mayank; Fraser, Ian S; Munro, Malcolm G; Critchley, Hilary O D

    2014-07-01

    To highlight the advantages of formal classification of causes of abnormal uterine bleeding from a clinical and scientific perspective. Review and recommendations for local implementation. In the past, research in the field of menstrual disorders has not been funded adequately with respect to the impact of symptoms on individuals, healthcare systems and society. This was confounded by a diverse terminology, which lead to confusion between clinical and scientific groups, ultimately harming the underlying evidence base. To address this, a formal classification system (PALM-COEIN) for the causes of abnormal uterine bleeding has been published for worldwide use by FIGO (International Federation of Gynecology and Obstetrics). This commentary explains problems created by the prior absence of such a system, the potential advantages stemming from its use, and practical suggestions for local implementation. The PALM-COEIN classification is applicable globally and, as momentum gathers, will ameliorate recurrence of historic problems, and harmonise reporting of clinical and scientific research to facilitate future progress in women's health. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.

  15. Patient navigation reduces time to care for patients with breast symptoms and abnormal screening mammograms.

    PubMed

    McKevitt, Elaine; Dingee, Carol; Warburton, Rebecca; Pao, Jin-Si; Brown, Carl J; Wilson, Christine; Kuusk, Urve

    2018-05-01

    Concern has been raised about delays for patients presenting with breast symptoms in Canada. Our objective was to determine if our Rapid Access Breast Clinic (RABC) improved care for patients presenting with breast symptoms compared to the traditional system (TS). A retrospective chart review tabulated demographic, surgical, pathology and radiologic information. Wait times to care were determined for patients presenting with symptomatic and screen detected breast problems. Time from presentation to surgeon evaluation was shorter in the RABC group for patients with breast symptoms (81 vs 35 days, p < .0001) and abnormal screens (72 vs 40 days, p = .092). Cancer patients with abnormal screens had shorter wait times than patients with breast symptoms in the TS (47 vs 70 days, p = .036). Coordination of imaging and clinical care reduces wait times in patients with both abnormal screening mammograms and symptomatic breast presentations and should be expanded in our province. Copyright © 2018 Elsevier Inc. All rights reserved.

  16. Adenomyosis and Abnormal Uterine Bleeding (AUB-A)-Pathogenesis, diagnosis, and management.

    PubMed

    Abbott, Jason A

    2017-04-01

    The complex pathogenesis and variable presentation of adenomyosis make it one of the most difficult of the FIGO PALM-COIEN abnormal uterine bleeding group to diagnose and treat. Basic clinical parameters such as prevalence are difficult to accurately assess because histological confirmation is usually employed; however, because of the access to and accuracy and utilization of transvaginal ultrasound and other advanced imaging techniques such as MRI, noninvasive diagnosis is recognized to be highly accurate. The clinical symptoms of pain, abnormal uterine bleeding, and subfertility are the primary presentations of adenomyosis with increasing data supporting a substantial role of this disease in reducing fecundity and interfering with assisted reproductive interventions. Treatments have been aimed at managing symptoms and improving fertility options. Management by hysterectomy is not always desired by women, and with many women having children in their fourth and even fifth decades, it is often not reasonable to consider this radical option. Copyright © 2016. Published by Elsevier Ltd.

  17. Normal or abnormal? 'Normative uncertainty' in psychiatric practice.

    PubMed

    Bassett, Andrew M; Baker, Charley

    2015-06-01

    The 'multicultural clinical interaction' presents itself as a dilemma for the mental health practitioner. Literature describes two problematic areas where this issues emerges--how to make an adequate distinction between religious rituals and the rituals that may be symptomatic of 'obsessive compulsive disorder' (OCD), and how to differentiate 'normative' religious or spiritual beliefs, behaviours, and experiences from 'psychotic' illnesses. When it comes to understanding service user's 'idioms of distress', beliefs about how culture influences behaviour can create considerable confusion and 'normative uncertainty' for mental health practitioners. In the absence of clear diagnostic and assessment criteria on distinguishing between 'culture' and 'psychopathology', practitioners have had to rely on their own intuition and seek out possible 'strategies' or 'procedures' from a contradictory and cross-disciplinary evidence base. Decontextualisation of service users' experiences may result in the pathologisation of culturally 'normative' phenomenon, 'category fallacy' errors, and poor health care experiences and outcomes for service users.This paper situates this dilemma within a wider debate that has concerned both the biomedical and social sciences, namely, the unresolved question of 'normality' or 'abnormality'. Indeed, issues that arise from dilemmas surrounding the question of 'culture' or 'psychopathology' are intimately tied to wider cultural ideas about what is considered 'normal'. The disciplines of psychiatry, psychology, and medical anthropology have struggled to establish workable criteria against which to judge behaviour as 'normal', 'abnormal', or 'pathological'. Three models for understanding mental 'abnormality' are evident in 'transcultural psychiatry' (what is now commonly known as 'cultural psychiatry'), and these models have corresponded closely to the interpretive models used by anthropologists attempting to make sense of the apparent diversity of

  18. Pre-diagnostic Clinical Presentations and Medical History Prior to the Diagnosis of Inflammatory Bowel Disease in Children.

    PubMed

    Kwon, Yong Hoon; Kim, Yong Joo

    2013-09-01

    The clinical presentations of inflammatory bowel disease (IBD) prior to diagnosis are so diverse or vague that many of them waste time before final diagnosis. This study was undertaken to know the medical history of the pediatric patients until the final diagnosis could be reached. The medical records of all pediatric patients who were diagnosed with IBD (Crohn's disease [CD] in 14 children, ulcerative colitis [UC] in 17) during the last 13 years were reviewed. We investigated the length of the diagnostic time lag, chief clinical presentation, and any useful laboratory predictor among the routinely performed examinations. Indeterminate colitis was not included. The mean ages of children at the final diagnosis was similar in both diseases. As for the pre-clinical past history of bowel symptoms in CD patients, 5 were previously healthy, 9 had had 1-3 gastrointestinal (GI) symptoms, weight loss, bloody stool, anemia and rectal prolapse. With UC, 9 were previously healthy, 8 had had 1-3 GI symptoms, bloody stool, anorexia. The average diagnostic time lag with CD was 3.36 months, and with UC 2.2 months. Body mass index (BMI) and the initial basic laboratory data (white blood cell, hemoglobin, mean corpuscular volume, serum albumin, and serum total protein) were lower in CD, statistically significant only in BMI. IBD shows diverse clinical symptoms before its classical features, making the patients waste time until diagnosis. It is important to concern possibility of IBD even in the mildly sick children who do not show the characteristic symptoms of IBD.

  19. Landing strategies of athletes with an asymptomatic patellar tendon abnormality.

    PubMed

    Edwards, Suzi; Steele, Julie R; McGhee, Deirdre E; Beattie, Sue; Purdam, Craig; Cook, Jill L

    2010-11-01

    Risk factors associated with a clinical presentation of patellar tendinopathy are patellar tendon ultrasonographic abnormality (PTA) and excessive loading. It remains unknown whether characteristics of an athlete's landing technique contribute to this excessive patellar tendon loading. This study investigated whether asymptomatic athletes with and without PTA had different landing strategies and hypothesized that asymptomatic athletes with a PTA would create higher patellar tendon loading and a different lower-limb landing strategy compared with athletes with normal patellar tendons. Seven athletes with no previous history or clinical signs of patellar tendon injury with a PTA were matched to athletes with normal patellar tendons (controls). Participants performed five successful trials of a stop-jump task, which involved a simultaneous two-foot horizontal and then vertical landing. During each trial, the participants' ground reaction forces and lower-limb electromyographic data were recorded, the three-dimensional kinematics measured, and the peak patellar tendon force calculated by dividing the net knee joint moment by the patellar tendon moment arm. Significant between-group differences in landing technique were mostly observed during the horizontal landing phase. Participants with a PTA created similar patellar tendon loading to the controls, but with altered sequencing, by landing with significantly greater knee flexion and extending their hips while the controls flexed their hips as they landed, reflecting a different muscle recruitment order compared with the PTA group. The crucial part in the development of PTA and, in turn, patellar tendinopathy may not be the magnitude of the patellar tendon load but rather the loading patterns. This research provides clinicians with important landing assessment criteria against which to identify athletes at risk of developing patellar tendinopathy.

  20. Variation in Screening Abnormality Rates and Follow-Up of Breast, Cervical and Colorectal Cancer Screening within the PROSPR Consortium.

    PubMed

    Tosteson, Anna N A; Beaber, Elisabeth F; Tiro, Jasmin; Kim, Jane; McCarthy, Anne Marie; Quinn, Virginia P; Doria-Rose, V Paul; Wheeler, Cosette M; Barlow, William E; Bronson, Mackenzie; Garcia, Michael; Corley, Douglas A; Haas, Jennifer S; Halm, Ethan A; Kamineni, Aruna; Rutter, Carolyn M; Tosteson, Tor D; Trentham-Dietz, Amy; Weaver, Donald L

    2016-04-01

    Primary care providers and health systems have prominent roles in guiding effective cancer screening. To characterize variation in screening abnormality rates and timely initial follow-up for common cancer screening tests. Population-based cohort undergoing screening in 2011, 2012, or 2013 at seven research centers comprising the National Cancer Institute-sponsored Population-based Research Optimizing Screening through Personalized Regimens (PROSPR) consortium. Adults undergoing mammography with or without digital breast tomosynthesis (n = 97,683 ages 40-75 years), fecal occult blood or fecal immunochemical tests (n = 759,553 ages 50-75 years), or Papanicolaou with or without human papillomavirus tests (n = 167,330 ages 21-65 years). Breast, colorectal, or cervical cancer screening. Abnormality rates per 1000 screens; percentage with timely initial follow-up (within 90 days, except 9-month window for BI-RADS 3). Primary care clinic-level variation in percentage with screening abnormality and percentage with timely initial follow-up. There were 10,248/97,683 (104.9 per 1000) abnormal breast cancer screens, 35,847/759,553 (47.2 per 1000) FOBT/FIT-positive colorectal cancer screens, and 13,266/167,330 (79.3 per 1000) abnormal cervical cancer screens. The percentage with timely follow-up was 93.2 to 96.7 % for breast centers, 46.8 to 68.7  % for colorectal centers, and 46.6 % for the cervical cancer screening center (low-grade squamous intraepithelial lesions or higher). The primary care clinic variation (25th to 75th percentile) was smaller for the percentage with an abnormal screen (breast, 8.5-10.3 %; colorectal, 3.0-4.8 %; cervical, 6.3-9.9 %) than for the percentage with follow-up within 90 days (breast, 90.2-95.8 %; colorectal, 43.4-52.0 %; cervical, 29.6-61.4 %). Variation in both the rate of screening abnormalities and their initial follow-up was evident across organ sites and primary care clinics. This highlights an opportunity for improving the delivery of

  1. The FIGO systems for nomenclature and classification of causes of abnormal uterine bleeding in the reproductive years: who needs them?

    PubMed

    Munro, Malcolm G; Critchley, Hilary O D; Fraser, Ian S

    2012-10-01

    In November 2010, the International Federation of Gynecology and Obstetrics formally accepted a new classification system for causes of abnormal uterine bleeding in the reproductive years. The system, based on the acronym PALM-COEIN (polyps, adenomyosis, leiomyoma, malignancy and hyperplasia-coagulopathy, ovulatory disorders, endometrial causes, iatrogenic, not classified) was developed in response to concerns about the design and interpretation of basic science and clinical investigation that relates to the problem of abnormal uterine bleeding. A system of nomenclature for the description of normal uterine bleeding and the various symptoms that comprise abnormal bleeding has also been included. This article describes the rationale, the structured methods that involved stakeholders worldwide, and the suggested use of the International Federation of Gynecology and Obstetrics system for research, education, and clinical care. Investigators in the field are encouraged to use the system in the design of their abnormal uterine bleeding-related research because it is an approach that should improve our understanding and management of this often perplexing clinical condition. Copyright © 2012. Published by Mosby, Inc.

  2. Clinical Monitoring of Chronic Hepatitis C Based on its Natural History and Therapy.

    PubMed

    Nguyen, Douglas L; Hu, Ke-Qin

    2014-01-01

    Hepatitis C virus (HCV) infection is a major public health problem and a leading cause of chronic liver disease. Chronic HCV infection often follows a progressive course over years and can result in cirrhosis, hepatocellular carcinoma, and need for liver transplantation. In the United States alone, the estimated prevalence of HCV infection is up to 5.1 million persons. The optimal approach to detecting HCV infection is to screen persons for possible history of risks of exposure to virus and to test those selected individuals with risk factors. Both host and viral factors may be important contributors to the natural history of HCV. Currently, effective pharmacologic therapy are available to induce sustained virologic response (SVR) or virologic "cure," which results in improved morbidity and mortality. Patient education before treatment is essential and should include a full discussion of potential side effects. It is important to work collaboratively and closely with patients to ensure early recognition of adverse events and to effectively manage them in order to ensure treatment compliance. This paper provides a thorough overview on screening for the diagnosis, clinical management, and treatment indications and contraindications for chronic hepatitis C.

  3. Longitudinal Analysis of Carcinogenic Human Papillomavirus Infection and Associated Cytologic Abnormalities in the Guanacaste Natural History Study: Looking Ahead to Cotesting

    PubMed Central

    Rodriguez, Ana C.; Burk, Robert D.; Hildesheim, Allan; Herrero, Rolando; Wacholder, Sholom; Hutchinson, Martha; Schiffman, Mark

    2012-01-01

    Background. Few studies have addressed the timing of cervical cytologic abnormalities and human papillomavirus (HPV) positivity during the course of an infection. It remains largely unknown how infections detected by HPV and cytology wax and wane relative to each other. The aim of this analysis was to assess the longitudinal relationship of abnormal cytology and HPV positivity in a 7-year prospective study of 2500 women in Guanacaste, Costa Rica. Methods. At each semiannual or annual visit, cervical specimens were screened using liquid-based cytology and tested for >40 HPV types with use of MY09/MY11 L1 degenerate primer polymerase chain reaction–based methods. On the basis of previous work, we separated prevalent and newly detected infections in younger and older women. Results. Among newly detected HPV- and/or cytology-positive events, HPV and cytology appeared together ∼60% of the time; when discordant, HPV tended to appear before cytology in younger and older women. Combining newly and prevalently detected events, HPV and cytology disappeared at the same time >70% of the time. When discordant, HPV tended to disappear after cytology in younger and older women. Conclusions. Detection of HPV DNA and associated cytological abnormalities tend to come and leave together; however, when discordant, detection of HPV DNA tends to precede and/or last longer than associated cytologic abnormalities. PMID:22147792

  4. Obesity, Gynecological Factors, and Abnormal Mammography Follow-Up in Minority and Medically Underserved Women

    PubMed Central

    Wujcik, Debra; Lin, Jin-Mann S.; Grau, Ana; Wilson, Veronica; Champion, Victoria; Zheng, Wei; Egan, Kathleen M.

    2009-01-01

    Abstract Background The relationship between obesity and screening mammography adherence has been examined previously, yet few studies have investigated obesity as a potential mediator of timely follow-up of abnormal (Breast Imaging Reporting and Data System [BIRADS-0]) mammography results in minority and medically underserved patients. Methods We conducted a retrospective cohort study of 35 women who did not return for follow-up >6 months from index abnormal mammography and 41 who returned for follow-up ≤6 months in Nashville, Tennessee. Patients with a BIRADS-0 mammography event in 2003–2004 were identified by chart review. Breast cancer risk factors were collected by telephone interview. Multivariate logistic regression was performed on selected factors with return for diagnostic follow-up. Results Obesity and gynecological history were significant predictors of abnormal mammography resolution. A significantly higher frequency of obese women delayed return for mammography resolution compared with nonobese women (64.7% vs. 35.3%). A greater number of hysterectomized women returned for diagnostic follow-up compared with their counterparts without a hysterectomy (77.8% vs. 22.2%). Obese patients were more likely to delay follow-up >6 months (adjusted OR 4.09, p = 0.02). Conversely, hysterectomized women were significantly more likely to return for timely mammography follow-up ≤6 months (adjusted OR 7.95, p = 0.007). Conclusions Study results suggest that weight status and gynecological history influence patients' decisions to participate in mammography follow-up studies. Strategies are necessary to reduce weight-related barriers to mammography follow-up in the healthcare system including provider training related to mammography screening of obese women. PMID:19558307

  5. Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

    PubMed

    Chitty, Lyn S; Hudgins, Louanne; Norton, Mary E

    2018-02-01

    Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. More recently, clinical laboratories have offered screening for other chromosome abnormalities including sex chromosome abnormalities and copy number variants (CNV) without little published data on the sensitivity, specificity, and positive predictive value. In this debate, the pros and cons of performing prenatal screening via cfDNA for all chromosome abnormalities is discussed. At the time of the debate in 2017, the general consensus was that the literature does not yet support using this technology to screen for all chromosome abnormalities and that education is key for both providers and the patients so that the decision-making process is as informed as possible. © 2018 John Wiley & Sons, Ltd.

  6. A risk score for predicting coronary artery disease in women with angina pectoris and abnormal stress test finding.

    PubMed

    Lo, Monica Y; Bonthala, Nirupama; Holper, Elizabeth M; Banks, Kamakki; Murphy, Sabina A; McGuire, Darren K; de Lemos, James A; Khera, Amit

    2013-03-15

    Women with angina pectoris and abnormal stress test findings commonly have no epicardial coronary artery disease (CAD) at catheterization. The aim of the present study was to develop a risk score to predict obstructive CAD in such patients. Data were analyzed from 337 consecutive women with angina pectoris and abnormal stress test findings who underwent cardiac catheterization at our center from 2003 to 2007. Forward selection multivariate logistic regression analysis was used to identify the independent predictors of CAD, defined by ≥50% diameter stenosis in ≥1 epicardial coronary artery. The independent predictors included age ≥55 years (odds ratio 2.3, 95% confidence interval 1.3 to 4.0), body mass index <30 kg/m(2) (odds ratio 1.9, 95% confidence interval 1.1 to 3.1), smoking (odds ratio 2.6, 95% confidence interval 1.4 to 4.8), low high-density lipoprotein cholesterol (odds ratio 2.9, 95% confidence interval 1.5 to 5.5), family history of premature CAD (odds ratio 2.4, 95% confidence interval 1.0 to 5.7), lateral abnormality on stress imaging (odds ratio 2.8, 95% confidence interval 1.5 to 5.5), and exercise capacity <5 metabolic equivalents (odds ratio 2.4, 95% confidence interval 1.1 to 5.6). Assigning each variable 1 point summed to constitute a risk score, a graded association between the score and prevalent CAD (ptrend <0.001). The risk score demonstrated good discrimination with a cross-validated c-statistic of 0.745 (95% confidence interval 0.70 to 0.79), and an optimized cutpoint of a score of ≤2 included 62% of the subjects and had a negative predictive value of 80%. In conclusion, a simple clinical risk score of 7 characteristics can help differentiate those more or less likely to have CAD among women with angina pectoris and abnormal stress test findings. This tool, if validated, could help to guide testing strategies in women with angina pectoris. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. The Clinical Approach to Encephalitis.

    PubMed

    Piquet, Amanda L; Cho, Tracey A

    2016-05-01

    Encephalitis has various etiologies, but viral infections and autoimmune disorders are the most commonly identified. Clinical signs, geographical clues, and diagnostic testing-including cerebrospinal fluid abnormalities and magnetic resonance imaging abnormalities-can be helpful in identifying the cause. Certain forms of encephalitis have specific treatments; hence, establishing a diagnosis rapidly and accurately is crucial. Here, we describe the clinical approach to diagnosing several common etiologies of encephalitis as well as treatment strategies.

  8. Abnormal behavior and associated risk factors in captive baboons (Papio hamadryas spp.).

    PubMed

    Lutz, Corrine K; Williams, Priscilla C; Sharp, R Mark

    2014-04-01

    Abnormal behavior, ranging from motor stereotypies to self-injurious behavior, has been documented in captive nonhuman primates, with risk factors including nursery rearing, single housing, and veterinary procedures. Much of this research has focused on macaque monkeys; less is known about the extent of and risk factors for abnormal behavior in baboons. Because abnormal behavior can be indicative of poor welfare, either past or present, the purpose of this study was to survey the presence of abnormal behavior in captive baboons and to identify potential risk factors for these behaviors with an aim of prevention. Subjects were 144 baboons (119 females, 25 males) aged 3-29 (median = 9.18) years temporarily singly housed for research or clinical reasons. A 15-min focal observation was conducted on each subject using the Noldus Observer® program. Abnormal behavior was observed in 26% of the subjects, with motor stereotypy (e.g., pace, rock, swing) being the most common. Motor stereotypy was negatively associated with age when first singly housed (P < 0.005) while self-directed behavior (e.g., hair pull, self-bite) was positively associated with the lifetime number of days singly housed (P < 0.05) and the average number of blood draws per year (P < 0.05). In addition, abnormal appetitive behavior was associated with being male (P < 0.05). Although the baboons in this study exhibited relatively low levels of abnormal behavior, the risk factors for these behaviors (e.g., social restriction, routine veterinary procedures, and sex) appear to remain consistent across primate species. © 2013 Wiley Periodicals, Inc.

  9. Abnormal uterine bleeding unrelated to structural uterine abnormalities: management in the perimenopausal period.

    PubMed

    Sabbioni, Lorenzo; Zanetti, Isabella; Orlandini, Cinzia; Petraglia, Felice; Luisi, Stefano

    2017-02-01

    Abnormal uterine bleeding (AUB) is one of the commonest health problems encountered by women and a frequent phenomenon during menopausal transition. The clinical management of AUB must follow a standardized classification system to obtain the better diagnostic pathway and the optimal therapy. The PALM-COEIN classification system has been approved by the International Federation of Gynecology and Obstetrics (FIGO); it recognizes structural causes of AUB, which can be measured visually with imaging techniques or histopathology, and non-structural entities such as coagulopathies, ovulatory dysfunctions, endometrial and iatrogenic causes and disorders not yet classified. In this review we aim to evaluate the management of nonstructural causes of AUB during the menopausal transition, when commonly women experience changes in menstrual bleeding patterns and unexpected bleedings which affect their quality of life.

  10. Cerebellar White Matter Abnormalities following Primary Blast Injury in US Military Personnel

    PubMed Central

    Mac Donald, Christine; Johnson, Ann; Cooper, Dana; Malone, Thomas; Sorrell, James; Shimony, Joshua; Parsons, Matthew; Snyder, Abraham; Raichle, Marcus; Fang, Raymond; Flaherty, Stephen; Russell, Michael; Brody, David L.

    2013-01-01

    Little is known about the effects of blast exposure on the human brain in the absence of head impact. Clinical reports, experimental animal studies, and computational modeling of blast exposure have suggested effects on the cerebellum and brainstem. In US military personnel with isolated, primary blast-related ‘mild’ traumatic brain injury and no other known insult, we found diffusion tensor MRI abnormalities consistent with cerebellar white matter injury in 3 of 4 subjects. No abnormalities in other brain regions were detected. These findings add to the evidence supporting the hypothesis that primary blast exposure contributes to brain injury in the absence of head impact and that the cerebellum may be particularly vulnerable. However, the clinical effects of these abnormalities cannot be determined with certainty; none of the subjects had ataxia or other detected evidence of cerebellar dysfunction. The details of the blast events themselves cannot be disclosed at this time, thus additional animal and computational modeling will be required to dissect the mechanisms underlying primary blast-related traumatic brain injury. Furthermore, the effects of possible subconcussive impacts and other military-related exposures cannot be determined from the data presented. Thus many aspects of topic will require further investigation. PMID:23409052

  11. Congenital abnormality of the vagina complicated by haemato-pyocolpos in a 1-year labrador retriever.

    PubMed

    Alonge, S; Romussi, S; Grieco, V; Luvoni, G C

    2015-06-01

    A 1-year-old female Labrador retriever was referred with a few days history of haematic-like vulvar discharge. Physical examination, vaginal inspection and palpation did not reveal any remarkable finding. Transabdominal ultrasound showed echogenic fluid accumulation in the vagina suggesting haemato-pyocolpos. An exploratory laparotomy was performed: a well-delimited ectasic vagina was identified. Ovariohysterectomy and partial vaginectomy and vaginoplasty were performed to spay the bitch and to remove the ectasic vagina. Post-operative recovery and 12-month follow-up were uneventful. Clinical, morphological and histological findings were consistent with a congenital abnormality of the muscular layer of the vagina complicated by haemato-pyocolpos. The disorganization of the vaginal tunica muscularis may have acted as locus minoris resistentiae in the vaginal wall. The organ was dilated and atonic due to the gradual accumulation of physiological fluids complicated by an overgrowth of genital bacteria. This congenital disorder has to be taken into account as differential diagnosis of haemato-pyocolpos with vaginal discharge in young bitches. © 2015 Blackwell Verlag GmbH.

  12. CNS imaging findings associated with Parry-Romberg syndrome and en coup de sabre: correlation to dermatologic and neurologic abnormalities.

    PubMed

    Doolittle, Derrick A; Lehman, Vance T; Schwartz, Kara M; Wong-Kisiel, Lily C; Lehman, Julia S; Tollefson, Megha M

    2015-01-01

    Parry-Romberg syndrome (PRS) and en coup de sabre (ECS) are variants of morphea. Although numerous findings on central nervous system (CNS) imaging of PRS and ECS have been reported, the spectrum and frequency of CNS imaging findings and relation to cutaneous and neurologic abnormalities have not been fully characterized. We retrospectively reviewed patients younger than 50 years at our institution over a 16-year interval who had clinical diagnosis of PRS and ECS by a skin or facial subspecialist. Two neuroradiologists evaluated available imaging and characterized CNS imaging findings. Eighty-eight patients with PRS or ECS were identified (62 women [70.4 %]; mean age 28.8 years). Of the 43 patients with CNS imaging, 19 (44 %) had abnormal findings. The only finding in 1 of these 19 patients was lateral ventricle asymmetry; of the other 18, findings were bilateral in 11 (61 %), ipsilateral to the side of facial involvement in 6 (33 %), and contralateral in 1 (6 %). Sixteen patients had serial imaging examinations over an average of 632 days; 13 (81 %) had stable imaging findings, and 3 (19 %) had change over time. Of six patients with progressive cutaneous findings, five (83 %) had stable imaging findings over time. Among the 23 patients with clinical neurologic abnormality and imaging, 12 (52 %) had abnormal imaging findings. All seven patients with seizures (100 %) had abnormal imaging studies. In PRS and ECS, imaging findings often are bilateral and often do not progress, regardless of cutaneous disease activity. Findings are inconsistently associated with clinical abnormalities.

  13. Evaluation of coronal shift as an indicator of neuroaxial abnormalities in adolescent idiopathic scoliosis: a prospective study

    PubMed Central

    2014-01-01

    Background In previous studies, many indicator factors have been proposed to select patients who need an MRI screening of the spinal canal. In current study, the clinical and radiologic factors including coronal parameters of the curve were evaluated to find out which indicator is more important. Methods A prospective study included 143 consecutive patients with the diagnosis of adolescent idiopathic scoliosis who were treated between 2010 and 2013 at our spinal clinics. Only patients with normal or subtle neurologic findings were included. All patients were evaluated by a total spine MRI protocol for examination of neuroaxial abnormalities. Known indicators and also coronal shift were analysed in all patients with or without abnormal MRI. Results The incidence of neuroaxial abnormalities was 11.9% (17 of 143); only 5 patients (3.5%) were operated to treat their neuroaxial problem. The significant indicators of the abnormalities in our patients were: younger age at onset, asymmetric superficial abdominal reflex and, coronal shift more than 15 mm (P = 0.03). Some previously known indicators like atypical curves, male gender, double curves and absence of thoracic lordosis were not different between two groups of the patients. Conclusions A total spine MRI is recommended at presentation in patients with younger age, abnormal neurologic findings and severe coronal shift. PMID:25071863

  14. Biochemical abnormalities in neonatal seizures.

    PubMed

    Sood, Arvind; Grover, Neelam; Sharma, Roshan

    2003-03-01

    The presence of seizure does not constitute a diagnoses but it is a symptom of an underlying central nervous system disorder due to systemic or biochemical disturbances. Biochemical disturbances occur frequently in the neonatal seizures either as an underlying cause or as an associated abnormality. In their presence, it is difficult to control seizure and there is a risk of further brain damage. Early recognition and treatment of biochemical disturbances is essential for optimal management and satisfactory long term outcome. The present study was conducted in the department of pediatrics in IGMC Shimla on 59 neonates. Biochemical abnormalities were detected in 29 (49.15%) of cases. Primary metabolic abnormalities occurred in 10(16.94%) cases of neonatal seizures, most common being hypocalcaemia followed by hypoglycemia, other metabolic abnormalities include hypomagnesaemia and hyponateremia. Biochemical abnormalities were seen in 19(38.77%) cases of non metabolic seizure in neonates. Associated metabolic abnormalities were observed more often with Hypoxic-ischemic-encephalopathy (11 out of 19) cases and hypoglycemia was most common in this group. No infant had hyponateremia, hyperkelemia or low zinc level.

  15. Dissociation of functional and anatomical brain abnormalities in unaffected siblings of schizophrenia patients.

    PubMed

    Guo, Wenbin; Song, Yan; Liu, Feng; Zhang, Zhikun; Zhang, Jian; Yu, Miaoyu; Liu, Jianrong; Xiao, Changqing; Liu, Guiying; Zhao, Jingping

    2015-05-01

    Schizophrenia patients and their unaffected siblings share similar brain functional and structural abnormalities. However, no study is engaged to investigate whether and how functional abnormalities are related to structural abnormalities in unaffected siblings. This study was undertaken to examine the association between functional and anatomical abnormalities in unaffected siblings. Forty-six unaffected siblings of schizophrenia patients and 46 age-, sex-, and education-matched healthy controls underwent structural and resting-state functional magnetic resonance imaging scanning. Voxel-based morphometry (VBM), amplitude of low-frequency fluctuation (ALFF) and fractional ALFF (fALFF) were utilized to analyze imaging data. The VBM analysis showed gray matter volume decreases in the fronto-temporal regions (the left middle temporal gyrus and right inferior frontal gyrus, orbital part) and increases in basal ganglia system (the left putamen). Functional abnormalities measured by ALFF and fALFF mainly involved in the fronto-limbic-sensorimotor circuit (decreased ALFF in bilateral middle frontal gyrus and the right middle cingulate gyrus, and decreased fALFF in the right inferior frontal gyrus, orbital part; and increased ALFF in the left fusiform gyrus and left lingual gyrus, and increased fALFF in bilateral calcarine cortex). No significant correlation was found between functional and anatomical abnormalities in the sibling group. A dissociation pattern of brain regions with functional and anatomical abnormalities is observed in unaffected siblings. Our findings suggest that brain functional and anatomical abnormalities might be present independently in unaffected siblings of schizophrenia patients. Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  16. Non-Invasive Evaluation of Corneal Abnormalities Using Static and Dynamic Light Scattering

    NASA Technical Reports Server (NTRS)

    Ansari, Rafat R.; Misra, Anup K.; Leung, Alfred B.; King, James F.; Datiles, Manuel B., III

    2002-01-01

    A preliminary study of corneal abnormalities in intact bovine eyes is presented. Twenty-one eyes were treated with chemicals, cotton swabs, and radial and photo-refractive surgeries. Dynamic and static light scattering was performed as a function of the penetration depth into the corneal tissue. Topographical maps of corneal refractive power from untreated and treated corneas were also obtained using videokeratoscopy and results compared. The ultimate aim is to develop the technique of dynamic light scattering (DLS) for clinical applications in early evaluation of corneal complications after laser-assisted in situ keratomileusis (LASIK) surgeries and other corneal abnormalities.

  17. Cross-sectional study of Pfizer-sponsored clinical trials: assessment of time to publication and publication history.

    PubMed

    Mooney, LaVerne A; Fay, Lorna

    2016-07-18

    To estimate the proportion of Pfizer-sponsored clinical trials that completed in 2010 and are published as manuscripts in the peer-reviewed literature, and to assess the manuscript development history. Retrospective, cross-sectional analysis. Clinical trials registered in ClinicalTrials.gov that completed in 2010 for approved, Pfizer prescription products in patients or vaccines in healthy participants. The proportion of studies for which the primary outcome(s) was published and the median time from study completion to publication. The manuscript development history included the number of times a manuscript was submitted before it was accepted for publication. Among registered clinical trials for which Pfizer was the sponsor that completed in 2010, 76 met all inclusion criteria. The primary outcome(s) for 65 (85%) studies was published in 71 manuscripts; the median time to publication was 31 months (range 3-63 months). Of the remaining 11 studies, 2 had been submitted to at least one journal, 2 had not yet been submitted and 7 had no plans to publish because the study had terminated early due to recruitment challenges. Manuscripts accepted at the first choice journal were published at median time of 28 months (range 8-63, n=31), those accepted at second choice journal were published at 32 months (3-45, n=19), and for those accepted at third choice journal, it was 40 months (range 24-53, n=13). The publication rate and median time to publication from study completion for Pfizer-sponsored studies were comparable to those previously reported for combined analyses of industry and non-industry sectors. Opportunities exist for sponsors, authors and journals to explore ideas that would facilitate more timely publication for clinical trial results. However, to be effective, such changes may need to revisit the entire publication process. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  18. Clinical course of infants with congenital heart disease who developed thyroid dysfunction within 100 days

    PubMed Central

    Lee, Hye Jin; Yu, Hyeoh Won; Kim, Gi Beom; Shin, Choong Ho; Yang, Sei Won

    2017-01-01

    Purpose We investigated the clinical course of infants with congenital heart disease (CHD) who experienced thyroid dysfunction within 100 days of birth. Methods We performed retrospective medical reviews of 54 CHD patients (24 male patients) who underwent a thyroid function test (TFT) between January 2007 and July 2016. Data were collected on birth history, diagnosis of CHD, underlying chromosomal or genetic abnormalities, medication history, surgery, ventilator care, and exposure to iodine contrast media (ICM). Results of neonatal screening tests (NSTs) and TFTs were reviewed. Results A total of 36 patients (29 transient, 7 permanent) showed thyroid dysfunction. Among the seven patients with permanent hypothyroidism, three had an underlying syndrome, three showed abnormal NST results, and one was admitted to the intensive care unit for macroglossia and feeding cyanosis. We found that infants with transient thyroid dysfunction had a lower birth weight and were more commonly exposed to thyroid disrupting medication and/or ICM. However, these risk factors were not significant. A total of 8 patients with a history of ICM exposure showed thyroid dysfunction. Excluding 3 patients with elevated thyroid stimulating hormone before ICM exposure, 5 patients recovered from transient thyroid dysfunction. Conclusions We observed thyroid dysfunction in two-thirds of CHD infants (53.7% transient, 13.0% permanent) who had risk factors and received TFT screening within 100 days, despite normal NSTs. Further studies with larger sample sizes are required to revise the criteria for TFT screening in CHD infants. PMID:29301186

  19. Gonadotrophin abnormalities in an infant with Lowe syndrome.

    PubMed

    Warner, Bronwen E; Inward, Carol D; Burren, Christine P

    2017-01-01

    This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72 h: testosterone 6.4 nmol/L, LH <0.5 IU/L and FSH <0.5 IU/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH = 45.4 IU/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH = 4.3 IU/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified de novo hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management. Clinical endocrine problems in Lowe syndrome has

  20. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

    PubMed

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

    2008-07-15

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

  1. Chorionic villus sampling for abnormal screening compared to historical indications: prevalence of abnormal karyotypes.

    PubMed

    Marshall, Nicole E; Fraley, Gwen; Feist, Cori; Burns, Michael J; Pereira, Leonardo

    2012-08-01

    To determine the prevalence of abnormal karyotype results in women undergoing chorionic villus sampling (CVS) for abnormal first trimester screening compared to CVS for historical indications (advanced maternal age (AMA) or prior aneuploidy). Retrospective cohort of all patients undergoing CVS at Oregon Health & Science University from January 2006 to June 2010. Patients were separated based on CVS indication: (1) positive ultrasound (U/S) or serum screening; or (2) AMA or prior aneuploidy with normal or no screening. Prevalence of abnormal karyotype results were compared between groups. Fetal karyotyping was successful in 500 of 506 CVS procedures performed. 203 CVS were performed for positive screening with 69 abnormal karyotypes (34.0%). 264 CVS were performed for historical indications with 11 abnormal karyotypes (4.2%). This difference was statistically significant (χ(2) 71.9, p < 0.001; OR 11.8 [95% CI 5.8, 24.6]). There were two age-related aneuplodies in AMA women without positive screening. 42 out of 44 AMA women diagnosed with aneuploidy (95.5%) had abnormal U/S and/or serum screening (35 U/S, 4 serum, 3 U/S and serum). Combined ultrasound and serum screening should be recommended to all women, including AMA women, prior to undergoing invasive testing to improve risk-based counseling and minimize morbidity.

  2. Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.

    PubMed

    Shen, Jianxiong; Wang, Zijia; Liu, Jiaming; Xue, Xuhong; Qiu, Guixing

    2013-05-01

    Retrospective study of a series of 226 consecutive Chinese patients with congenital scoliosis. To identify the incidence of intraspinal abnormalities and other organ defects in surgical patients with congenital scoliosis in Chinese population. Previous studies have revealed high rates of intraspinal anomalies and other organ defects in patients with congenital scoliosis. The incidence of abnormalities in patients with congenital scoliosis in Chinese population has not been reported. A total of 226 patients with congenital scoliosis underwent surgical treatment in Peking Union Medical College Hospital between January 2005 and March 2011 were identified. A definitive diagnosis of congenital scoliosis for all patients was made. Complete data were reviewed, including medical records, plain radiograph, magnetic resonance (MR) image of the whole spine, echocardiography, and renal ultrasound. The incidence of intraspinal abnormalities and other organ defects were analyzed. Intraspinal abnormalities were found in 99 (43%) patients. Diastematomyelia was identified to be the most common intraspinal pathological anomaly, which was different from the previous reports. The incidence of intraspinal anomaly in patients with failures of segmentation and mixed defects were significantly higher than those with failures of formation. Patients with thoracic hemivertebrae were found to have a higher incidence of intraspinal abnormalities than patients with lumbar hemivertebrae. Patients with intraspinal abnormality had a higher incidence of positive clinical findings than those with normal magnetic resonance imaging. However, the difference between the 2 groups was not statistically significant. Other organic defects were found in 91(40%) patients. Cardiac defects were detected in 18%, urogenital anomalies in 12%, and gastrointestinal anomalies in 5% of the patients in this study. Diastematomyelia was found to be the most common intraspinal pathological anomaly and cardiac defects were

  3. Impact on Clinical Management of After-Hours Emergent or Urgent Breast Ultrasonography in Patients with Clinically Suspected Breast Abscesses

    PubMed Central

    Moseley, Tanya W.; Stanley, Ashley; Wei, Wei; Parikh, Jay R.

    2018-01-01

    Newly diagnosed breast abscesses are generally treated as a medical emergency that may necessitate immediate interventional treatment. At our institution, there is no in-house after-hours coverage for breast ultrasonography. We could find no peer-reviewed studies on the cost-effectiveness or clinical management impact of on-call ultrasound technologist coverage for imaging of breast abscesses. The purposes of this study were to determine the incidence of breast abscess in patients with clinical findings highly suggestive of abscess, identify clinical factors associated with breast abscess in such patients, and determine the impact of after-hours emergent or urgent breast ultrasonography on the clinical management of breast abscesses in both outpatients and inpatients. We retrospectively reviewed 100 after-hours breast ultrasound studies performed at our tertiary care center from 2011 to 2015 for evaluation of a suspected breast abscess. Only 26% of our patients with clinically suspected abscess ultimately had a confirmed abscess. Factors associated with breast abscess were a palpable abnormality and a history of breast surgery within the eight weeks before presentation. After-hours diagnosis of an abscess was associated with after-hours clinical intervention. Of the 74 patients in whom after-hours ultrasound imaging showed no evidence of abscess, only three patients underwent after-hours drainage. Our findings support overnight and weekend breast ultrasound coverage in large tertiary care centers. PMID:29473859

  4. Relationships among smoking habits, airflow limitations, and metabolic abnormalities in school workers.

    PubMed

    Horie, Masafumi; Noguchi, Satoshi; Tanaka, Wakae; Goto, Yasushi; Yoshihara, Hisanao; Kawakami, Masaki; Suzuki, Masaru; Sakamoto, Yoshio

    2013-01-01

    Chronic obstructive pulmonary disease is caused mainly by habitual smoking and is common among elderly individuals. It involves not only airflow limitation but also metabolic disorders, leading to increased cardiovascular morbidity and mortality. We evaluated relationships among smoking habits, airflow limitation, and metabolic abnormalities. Between 2001 and 2008, 15,324 school workers (9700 males, 5624 females; age: ≥ 30 years) underwent medical checkups, including blood tests and spirometry. They also responded to a questionnaire on smoking habits and medical history. Airflow limitation was more prevalent in current smokers than in ex-smokers and never-smokers in men and women. The frequency of hypertriglyceridemia was higher in current smokers in all age groups, and those of low high-density-lipoprotein cholesterolemia and diabetes mellitus were higher in current smokers in age groups ≥ 40 s in men, but not in women. There were significant differences in the frequencies of metabolic abnormalities between subjects with airflow limitations and those without in women, but not in men. Smoking index was an independent factor associated with increased frequencies of hypertriglyceridemia (OR 1.015; 95% CI: 1.012-1.018; p<0.0001) and low high-density-lipoprotein cholesterolemia (1.013; 1.010-1.016; p<0.0001) in men. Length of smoking cessation was an independent factor associated with a decreased frequency of hypertriglyceridemia (0.984; 0.975-0.994; p = 0.007). Habitual smoking causes high incidences of airflow limitation and metabolic abnormalities. Women, but not men, with airflow limitation had higher frequencies of metabolic abnormalities.

  5. Family history of psychosis as a predictor or protective factor of social maladjustment in a population at clinical high risk for psychosis

    PubMed Central

    Poe, S. Lucy; Gill, Kelly E.; Brucato, Gary; Corcoran, Cheryl M.; Girgis, Ragy R.

    2018-01-01

    Literature suggests that social maladjustment is predictive of psychosis. We assessed 70 clinical high risk (CHR) patients for social maladjustment. There were no significant differences between patients with a positive or negative family history, suggesting that the relationship between social maladjustment and psychosis found in the recent literature may not translate to a relationship between social maladjustment and family history of psychosis in a CHR population. PMID:25063019

  6. Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.

    PubMed

    Joers, James M; Deelchand, Dinesh K; Lyu, Tianmeng; Emir, Uzay E; Hutter, Diane; Gomez, Christopher M; Bushara, Khalaf O; Eberly, Lynn E; Öz, Gülin

    2018-04-01

    To investigate whether early neurochemical abnormalities are detectable by high-field magnetic resonance spectroscopy (MRS) in individuals with spinocerebellar ataxias (SCAs) 1, 2, 3, and 6, including patients without manifestation of ataxia. A cohort of 100 subjects (N = 18-21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia [SARA] <10 for all genotypes, and 22 matched controls) was scanned at 7 Tesla to obtain neurochemical profiles of the cerebellum and brainstem. A novel multivariate approach (distance-weighted discrimination) was used to combine regional profiles into an "MRS score." MRS scores robustly distinguished individuals with SCA from controls, with misclassification rates of 0% (SCA2), 2% (SCA3), 5% (SCA1), and 17% (SCA6). Premanifest mutation carriers with estimated disease onset within 10 years had MRS scores in the range of early-manifest SCA subjects. Levels of neuronal and glial markers significantly correlated with SARA and an Activities of Daily Living score in subjects with SCA. Regional neurochemical alterations were different between SCAs at comparable disease severity, with SCA2 displaying the most extensive neurochemical abnormalities, followed by SCA1, SCA3, and SCA6. Neurochemical abnormalities are detectable in individuals before manifest disease, which may allow premanifest enrollment in future SCA trials. Correlations with ataxia and quality-of-life scores show that neurochemical levels can serve as clinically meaningful endpoints in trials. Ranking of SCA types by degree of neurochemical abnormalities indicates that the neurochemistry may reflect synaptic function or density. Ann Neurol 2018;83:816-829. © 2018 American Neurological Association.

  7. False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?

    PubMed

    Homa, Katarzyna; Stefański, Adam; Zmysłowska, Agnieszka; Molęda, Piotr; Bryśkiewicz, Marta Ewa; Majkowska, Liliana

    2014-01-01

    Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient's medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages.

  8. Clinical aspects of ECL-cell abnormalities.

    PubMed Central

    Hirschowitz, B. I.

    1998-01-01

    ECL cell hyperplasia results from hypergastrinemia, and in man this occurs due to achlorhydria in atrophic gastritis (pernicious anemia [PA]) and gastrinoma (Zollinger-Ellison syndrome [ZES]). Progression to neoplasia, i.e., ECL cell carcinoids (usually small, multicentric and non-functional), occurs in some five to 10 percent of patients with PA where they remain gastrin-dependent and reversible by normalization of serum gastrin by antrectomy. Even if untreated, the carcinoids are almost invariably benign and do not cause death. In ZES, ECL cell hyperplasia is progressive due to hypergastrinemia. However, carcinoids develop only in the MEN-I subtype but pose no additional threat of malignancy. A conservative approach is recommended for small multicentric carcinoids, and the tumors do not need removal. By contrast, single, large, non-gastrin-dependent carcinoids represent a different biological and clinical problem and are frequently malignant. PMID:10461361

  9. Three-dimensional echocardiography of congenital abnormalities of the left atrioventricular valve

    PubMed Central

    Rice, Kathryn

    2015-01-01

    Congenital abnormalities of the left atrioventricular (AV) valve are a significant diagnostic challenge. Traditionally, reliance has been placed on two-dimensional echocardiographic (2DE) imaging to guide recognition of the specific morphological features. Real-time 3DE can provide unique views of the left AV valve with the potential to improve understanding of valve morphology and function to facilitate surgical planning. This review illustrates the features of congenital abnormalities of the left AV valve assessed by 3DE. The similarities and differences in morphology between different lesions are described, both with respect to the valve itself and supporting chordal apparatus. The potential advantages as well as limitations of this technique in clinical practice are outlined. PMID:26693328

  10. Three-dimensional echocardiography of congenital abnormalities of the left atrioventricular valve.

    PubMed

    Rice, Kathryn; Simpson, John

    2015-03-01

    Congenital abnormalities of the left atrioventricular (AV) valve are a significant diagnostic challenge. Traditionally, reliance has been placed on two-dimensional echocardiographic (2DE) imaging to guide recognition of the specific morphological features. Real-time 3DE can provide unique views of the left AV valve with the potential to improve understanding of valve morphology and function to facilitate surgical planning. This review illustrates the features of congenital abnormalities of the left AV valve assessed by 3DE. The similarities and differences in morphology between different lesions are described, both with respect to the valve itself and supporting chordal apparatus. The potential advantages as well as limitations of this technique in clinical practice are outlined.

  11. Electrocardiographic abnormalities and relative bradycardia in patients with hantavirus-induced nephropathia epidemica.

    PubMed

    Kitterer, Daniel; Greulich, Simon; Grün, Stefan; Segerer, Stephan; Mustonen, Jukka; Alscher, M Dominik; Braun, Niko; Latus, Joerg

    2016-09-01

    Nephropathia epidemica (NE), caused by Puumala virus (PUUV), is characterized by acute kidney injury (AKI) and thrombocytopenia. Cardiac involvement with electrocardiographic (ECG) abnormalities has been previously reported in NE; however, its prognostic value is unknown. Relative bradycardia is an important clinical sign in various infectious diseases, and previous smaller studies have described pulse-temperature deficit in patients with PUUV infection. We performed a cross-sectional survey of 471 adult patients with serologically confirmed NE. Data were collected retrospectively from medical records and prospectively at follow-up visits. Patients for whom ECGs were recorded during the acute phase of disease were enrolled retrospectively (n=263). Three patients were excluded because of documented pre-existing ECG abnormalities prior to NE. All patients with ECG abnormalities during the acute phase underwent follow-up. A total of 46 patients had ECG abnormalities at the time of admission to hospital (18%). T-wave inversion was the most frequent ECG abnormality (n=31 patients), followed by ST segment changes (nine patients with elevation and six with depression). No major adverse cardiac events occurred during follow-up (median 37months; range 34-63months). Of note, ECG abnormalities reverted to normal in the majority of the patients during follow-up. During the acute phase of NE, 149 of 186 patients had relative bradycardia, without implications for disease course. Transient ECG abnormalities were detected in 18% of patients during acute NE but were not associated with negative cardiovascular outcome. Relative bradycardia was identified in 80% of the patients with acute NE. Copyright © 2016 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

  12. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

    PubMed Central

    Renvoisé, Benoît; Chang, Jaerak; Singh, Rajat; Yonekawa, Sayuri; FitzGibbon, Edmond J; Mankodi, Ami; Vanderver, Adeline; Schindler, Alice B; Toro, Camilo; Gahl, William A; Mahuran, Don J; Blackstone, Craig; Pierson, Tyler Mark

    2014-01-01

    Objective Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities. Furthermore, both have been linked to early-onset parkinsonism. Methods We describe two new cases of SPG15 and investigate cellular changes in SPG15 and SPG11 patient-derived fibroblasts, seeking to identify shared pathogenic themes. Cells were evaluated for any abnormalities in cell division, DNA repair, endoplasmic reticulum, endosomes, and lysosomes. Results Fibroblasts prepared from patients with SPG15 have selective enlargement of LAMP1-positive structures, and they consistently exhibited abnormal lysosomal storage by electron microscopy. A similar enlargement of LAMP1-positive structures was also observed in cells from multiple SPG11 patients, though prominent abnormal lysosomal storage was not evident. The stabilities of the SPG15 protein spastizin/ZFYVE26 and the SPG11 protein spatacsin were interdependent. Interpretation Emerging studies implicating these two proteins in interactions with the late endosomal/lysosomal adaptor protein complex AP-5 are consistent with shared abnormalities in lysosomes, supporting a converging mechanism for these two disorders. Recent work with Zfyve26−/− mice revealed a similar phenotype to human SPG15, and cells in these mice had endolysosomal abnormalities. SPG15 and SPG11 are particularly notable among HSPs because they can also present with juvenile parkinsonism, and this lysosomal trafficking or storage defect may be relevant for other forms of parkinsonism associated with lysosomal dysfunction. PMID:24999486

  13. Prevalence and variables associated with an abnormal ankle-brachial index among patients with human immunodeficiency virus/acquired immunodeficiency syndrome.

    PubMed

    Hinojosa, Carlos A; Nunez-Salgado, Ana E; Anaya-Ayala, Javier E; Laparra-Escareno, Hugo; Ortiz-Lopez, Laura J; Herrera-Caceres, Jaime O; Crabtree-Ramirez, Brenda E; Sierra-Madero, Juan G

    2018-01-01

    Objectives The longer survival of patients with human immunodeficiency virus/acquired immunodeficiency syndrome and the introduction of the highly active antiretroviral therapy have increased the number of chronic conditions; among these, cardiovascular diseases. The aim of this study is to determine patient, disease, and factors associated with peripheral arterial disease in a population of patients with human immunodeficiency virus/acquired immunodeficiency syndrome. Methods A prospective nested case-control study of a cohort of patients with human immunodeficiency virus/acquired immunodeficiency syndrome was conducted in a tertiary medical center in Mexico City. A sample size of 206 patients was calculated. Medical history, relevant laboratory data, peripheral arterial exam, and screening ankle-brachial index tests were obtained. Results The prevalence of abnormal ankle-brachial indexes was 20% (42 patients). Patient's mean age was 44 years ±13. The majority (98.5%) were actively receiving highly active antiretroviral therapy; active smoking was reported in 55 (27%), arterial hypertension and type 2 diabetes mellitus were found in 24 (12%) and 22 (11%) patients. Median time from the human immunodeficiency virus diagnosis was eight years (Interquartile range ±11); the mean CD4 count was 481, with a mean viral load of 13,557 copies (SD ± 69025.27) and 1889.18 (SD ± 9052.77) for patients with normal and abnormal ankle-brachial index and a median of 40 (IQ ± 2). Viral load ( p = 0.04) and number of years with human immunodeficiency virus/acquired immunodeficiency syndrome ( p = 0.04) were significantly associated with abnormal ankle-brachial indexes. Conclusions Abnormal ankle-brachial index seems to be more frequent in Mexican patients with human immunodeficiency virus/acquired immunodeficiency syndrome when compared with the general population at the same age. The most important factors associated with arterial disease were the viral

  14. Chromosomal abnormalities in human sperm

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Martin, R.H.

    1985-01-01

    The ability to analyze human sperm chromosome complements after penetration of zona pellucida-free hamster eggs provides the first opportunity to study the frequency and type of chromosomal abnormalities in human gametes. Two large-scale studies have provided information on normal men. We have studied 1,426 sperm complements from 45 normal men and found an abnormality rate of 8.9%. Brandriff et al. (5) found 8.1% abnormal complements in 909 sperm from 4 men. The distribution of numerical and structural abnormalities was markedly dissimilar in the 2 studies. The frequency of aneuploidy was 5% in our sample and only 1.6% in Brandriff's, perhapsmore » reflecting individual variability among donors. The frequency of 24,YY sperm was low: 0/1,426 and 1/909. This suggests that the estimates of nondisjunction based on fluorescent Y body data (1% to 5%) are not accurate. We have also studied men at increased risk of sperm chromosomal abnormalities. The frequency of chromosomally unbalanced sperm in 6 men heterozygous for structural abnormalities varied dramatically: 77% for t11;22, 32% for t6;14, 19% for t5;18, 13% for t14;21, and 0% for inv 3 and 7. We have also studied 13 cancer patients before and after radiotherapy and demonstrated a significant dose-dependent increase of sperm chromosome abnormalities (numerical and structural) 36 months after radiation treatment.« less

  15. Prevalence of Chagas Disease in a U.S. Population of Latin American Immigrants with Conduction Abnormalities on Electrocardiogram

    PubMed Central

    Hernandez, Salvador; Sanchez, Daniel R.; Dufani, Jalal; Salih, Mohsin; Abuhamidah, Adieb M.; Olmedo, Wilman; Bradfield, Jason S.; Forsyth, Colin J.; Meymandi, Sheba K.

    2017-01-01

    Chagas disease (CD) affects over six million people and is a leading cause of cardiomyopathy in Latin America. Given recent migration trends, there is a large population at risk in the United States (US). Early stage cardiac involvement from CD usually presents with conduction abnormalities on electrocardiogram (ECG) including right bundle branch block (RBBB), left anterior or posterior fascicular block (LAFB or LPFB, respectively), and rarely, left bundle branch block (LBBB). Identification of disease at this stage may lead to early treatment and potentially delay the progression to impaired systolic function. All ECGs performed in a Los Angeles County hospital and clinic system were screened for the presence of RBBB, LAFB, LPFB, or LBBB. Patients were contacted and enrolled in the study if they had previously resided in Latin America for at least 12 months and had no history of cardiac disease. Enzyme-linked immunosorbent assay (ELISA) and immunofluorescence assay (IFA) tests were utilized to screen for Trypanosoma cruzi seropositivity. A total of 327 consecutive patients were screened for CD from January 2007 to December 2010. The mean age was 46.3 years and the mean length of stay in the US was 21.2 years. Conduction abnormalities were as follows: RBBB 40.4%, LAFB 40.1%, LPFB 2.8%, LBBB 5.5%, RBBB and LAFB 8.6%, and RBBB and LPFB 2.8%. Seventeen patients were positive by both ELISA and IFA (5.2%). The highest prevalence rate was among those with RBBB and LAFB (17.9%). There is a significant prevalence of CD in Latin American immigrants residing in Los Angeles with conduction abnormalities on ECG. Clinicians should consider evaluating all Latin American immigrant patients with unexplained conduction disease for CD. PMID:28056014

  16. [Clinical characteristics of lipid aspiration pneumonia in 16 children].

    PubMed

    Ge, Lisha; Chen, Sihu; Lin, Miaomiao; Xia, Xiaojiao; Jin, Yimei; He, Shijun

    2014-03-01

    To investigate clinical characteristics and changes of pulmonary imaging of mineral oil aspiration pneumonia in children. The clinical features, CT findings, and effects of corticosteroid therapy were analyzed in 16 children with mineral oil aspiration pneumonia, who were hospitalized in our hospital from January 2003 to July 2013. All patients with mineral oil aspiration pneumonia had a history of mineral oil administration.Four patients had no clinical manifestations. Ten cases presented fever, and 8 of the 10 patients had fever in 4-8 h after taking mineral oil, and the temperature was between 39-40 °C. There were wheezing in 2 cases, shortness of breath in 6 cases, cyanosis in 1 case, dyspnea in 3 cases, and moaning in 2 cases, chest pain in 1 case, headache and abnormal EEG in 1 case.Six patients had rales in lungs. Peripheral blood white cells increased in 10 cases, and C- reactive protein elevated in 7 patients. Chest CT examination showed abnormal findings in 6 children, and the earliest CT was performed within 2 h after the accident. The rest 10 children got chest X-ray, and 9 of 10 children had abnormal findings. The earliest X-ray was done within 3 h after the accident. And the remaining 1 of 10 children showed no significant changes in the first chest X-ray 2-3 h after the accident until 3 days. All of the patients received corticosteroid and antibiotic treatments, 4 cases underwent bronchoalveolar lavage, 3 patients were given albumin, 6 cases received intravenous immunoglobulin. Three cases delayed in treatment with hormone because of misdiagnosis, and 2 of them had clearly secondary infections. Twelve patients recovered completely from oil aspiration pneumonia after 8 days to 5.5 months. Oil aspiration pneumonia in children occurs in almost all cases after mineral oil aspiration. Pulmonary opacities can be found by chest CT in most patients within 24 hours after mineral oil aspiration. Corticosteroids therapy was effective for patients with

  17. Abnormal Liver Biochemistry Is Common in Pediatric Inflammatory Bowel Disease: Prevalence and Associations.

    PubMed

    Valentino, Pamela L; Feldman, Brian M; Walters, Thomas D; Griffiths, Anne M; Ling, Simon C; Pullenayegum, Eleanor M; Kamath, Binita M

    2015-12-01

    Liver enzymes (LEs) abnormalities associated with pediatric inflammatory bowel diseases (IBD) are understudied. We undertook to describe the development and associations of abnormal LEs in pediatric IBD. We ascertained a cohort of 300 children with IBD and collected retrospective data. A Kaplan-Meier analysis determined the time to development of different thresholds of abnormal LEs. Associations between clinical variables and the development of abnormal LEs were determined. The probability of developing the first episode of abnormal LEs above the upper limit of normal (ULN) within 150 months was 58.1% (16.3% by 1 mo post-IBD diagnosis). There was a 6% prevalence of primary sclerosing cholangitis (PSC) or autoimmune sclerosing cholangitis (ASC) in this cohort. Of those diagnosed with PSC/ASC, 93% had persistent LE elevations at a threshold of >2× ULN, while those without PSC/ASC had a 4% probability of this abnormality. Elevated gamma glutamyltranspeptidase levels of 252 U/L had a 99% sensitivity and 71% specificity for PSC/ASC in IBD. After exclusion of patients with PSC/ASC, corticosteroids, antibiotics, and exclusive enteral nutrition demonstrated strongly positive associations with the first development of abnormal LEs >ULN (hazard ratio 2.1 [95% confidence interval, 1.3-3.3], hazard ratio 5.6 [95% confidence interval, 3.6-8.9], hazard ratio 4.2 [95% confidence interval, 1.6-11.3], respectively). Abnormal LEs are common in pediatric IBD and occur early. PSC/ASC is associated with persistently high LEs and gamma glutamyltranspeptidase levels >252 U/L. Children with IBD are at risk of elevated LEs if they require medications other than 5-ASA to induce IBD remission.

  18. High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

    PubMed

    Roulot, Dominique; Malan, Valérie; Ziol, Marianne; Linglart, Agnès; Bourcier, Valérie; Beaugrand, Michel; Benzacken, Brigitte

    2014-08-01

    Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions. The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS. Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients. Systematic karyotype analysis and fluorescence in situ hybridization. X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P < .0001), including a 45,X/46,XX mosaicism in 24 patients and isochromosome of the long arm in three. Liver histological analysis showed architectural changes in 17 patients with nodular regenerative hyperplasia in 12. Biliary lesions were present in 13 patients and liver steatosis in 20. X chromosome abnormalities indicative of cryptic TS are extremely frequent in short-stature women with unexplained elevated liver enzymes. In short-stature women, abnormal liver tests should lead to systematic karyotype analysis.

  19. [Joint effect of birth weight and obesity measures on abnormal glucose metabolism at adulthood].

    PubMed

    Xi, Bo; Cheng, Hong; Chen, Fangfang; Zhao, Xiaoyuan; Mi, Jie

    2016-01-01

    To investigate the joint effect of birth weight and each of obesity measures (body mass index (BMI) and waist circumference (WC)) on abnormal glucose metabolism (including diabetes) at adulthood. Using the historical cohort study design and the convenience sampling method, 1 921 infants who were born in Beijing Union Medical College Hospital from June 1948 to December 1954 were selected to do the follow-up in 1995 and 2001 respectively. Through Beijing Household Registration and Management System, they were invited to participate in this study. A total of 972 subjects (627 were followed up in 1995 and 345 were followed up in 2001) with complete information on genders, age, birth weight, family history of diabetes, BMI, WC, fasting plasma glucose (FPG) and 2-hour plasma glucose (2 h PG) met the study inclusion criteria at the follow-up visits. In the data analysis, they were divided into low, normal, and high birth weight, respectively. The ANOVA and Chi-squared tests were used to compare the differences in their characteristics by birth weight group. In addition, multiple binary Logistic regression model was used to investigate the single effect of birth weight, BMI, and waist circumference on abnormal glucose metabolism at adulthood. Stratification analysis was used to investigate the joint effect of birth weight and each of obesity measures (BMI and WC) on abnormal glucose metabolism. There were 972 subjects (males: 50.7%, mean age: (46.0±2.2) years) included in the final data analysis. The 2 h PG in low birth weight group was (7.6±3.2) mmol/L , which was higher than that in normal birth weight group (6.9±2.1) mmol/L and high birth weight group (6.4±1.3) mmol/L (F=3.88, P=0.021). After adjustment for genders, age, body length, gestation age, family history of diabetes, physical activity, smoking and alcohol consumption, and duration of follow-up, subjects with overweight and obesity at adulthood had 2.73 (95% confidence interval (CI) =2.06- 3.62) times risk

  20. Transdiagnostic psychiatric symptoms related to visual evoked potential abnormalities.

    PubMed

    Bedwell, Jeffrey S; Butler, Pamela D; Chan, Chi C; Trachik, Benjamin J

    2015-12-15

    Visual processing abnormalities have been reported across a range of psychotic and mood disorders, but are typically examined within a particular disorder. The current study used a novel transdiagnostic approach to examine diagnostic classes, clinician-rated current symptoms, and self-reported personality traits in relation to visual processing abnormalities. We examined transient visual-evoked potentials (VEPs) from 48 adults (56% female), representing a wide range of psychotic and mood disorders, as well as individuals with no history of psychiatric disorder. Stimuli were low contrast check arrays presented on green and red backgrounds. Pairwise comparisons between individuals with schizophrenia-spectrum disorders (SSD), chronic mood disorders (CMD), and nonpsychiatric controls (NC) revealed no overall differences for either P1 or N1 amplitude. However, there was a significant interaction with the color background in which the NC group showed a significant increase in P1 amplitude to the red, vs. green, background, while the SSD group showed no change. This was related to an increase in social anhedonia and general negative symptoms. Stepwise regressions across the entire sample revealed that individuals with greater apathy and/or eccentric behavior had a reduced P1 amplitude. These relationships provide clues for uncovering the underlying causal pathology for these transdiagnostic symptoms. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.