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Sample records for classical clinical findings

  1. Classical swine fever virus: clinical, virological, serological and hematological findings after infection of domestic pigs and wild boars with the field isolate "Spante" originating from wild boar.

    PubMed

    Kaden, V; Ziegler, U; Lange, E; Dedek, J

    2000-01-01

    A classical swine fever virus (CSFV) field isolate originating from wild boar was investigated on its virulence in domestic pigs and wild boar. Three weaner pigs and two wild boars (yearlings) were intranasally inoculated with the isolate "Spante" and tested for clinical, virological, hematological and serological findings until day 31 after infection (p. i.). One day p. i. the piglets were put in contact to three sentinel pigs. During a period of 31 d neither the domestic pigs nor the wild boars showed clinical signs specific for CSF. Two infected weaner pigs became transiently viraemic, transmitted CSFV in nasal secretions, showed a slight leukopenia and reacted serologically positive. The contact infection resulted in a viraemia in two sentinel piglets on day 30. Only one contact animal developed antibodies. None of the wild boars became viraemic, excreted CSFV in nasal secretions or developed antibodies. The CSFV isolate "Spante" represents a low virulent virus. Referring to a significant higher percentage of virologically positive tissue samples after nested PCR compared with the virus isolation, persistence of CSFV is discussed. PMID:11153219

  2. Find a Free Clinic

    MedlinePlus

    ... Dental, Medical, Rx's www.amissionofmercy.org A Storehouse Free. Medical Ministries 675 E Lexington Rd Mocksville , NC ... E-mail: Info@nafcclinics.org National Association of Free & Charitable Clinics © 2016

  3. Joubert syndrome: the clinical and radiological findings.

    PubMed

    Karakas, Ekrem; Cullu, Nesat; Karakas, Omer; Calik, Mustafa; Boyaci, Fatima Nurefsan; Yildiz, Sema; Cece, Hasan; Akal, Ali

    2014-01-01

    Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypotonia. Episodic hyperpnoea attacks were observed in one case. Facial dysmorphism was the most common additional systemic anomaly and four cases had additional opthalmic findings. Brain MRI examination revealed that all cases had molar tooth sign, bat-wing appearance and vermian cleft. The majority of cases also had vermian hypoplasia. Cerebellar folial disorganisation was observed in approxiamtely half of the cases. Three cases had corpus callosum anomaly and atretic occipital encephalocoele. No pathology was determined in other organs. This study aimed to evaluate the clinical and radiological findings of 9 patients diagnosed with Joubert syndrome. PMID:24605724

  4. A Classic Clinical Case: Neutrophilic Eccrine Hidradenitis

    PubMed Central

    Copaescu, Ana-Maria; Castilloux, Jean-François; Chababi-Atallah, Myrna; Sinave, Christian; Bertrand, Janie

    2013-01-01

    Background Neutrophilic eccrine hidradenitis (NEH) is a rare condition described mostly in adult patients receiving chemotherapy for acute myelogenous leukemia. When it affects the facial region, it can mimic cellulitis and delay the diagnostic, thus proper recognition is essential. Objective This article describes a classic case of NEH. We will review the diagnostic, the differential diagnostic (mostly cellulitis) and the management of this condition. Methods After a literature review, the patient's file was properly studied in order to portray a clear picture of this condition. Medical photographs and appropriate physical examination upon presentation are also included. Results The diagnostic for NEH was suggested by the clinical presentation and confirmed histopathologically (skin biopsy). Conclusion The diagnostic of NEH is essential in order to prevent multiple unnecessary antibiotics. PMID:24474918

  5. Classical Hodgkin's disease. Clinical impact of the immunophenotype.

    PubMed Central

    von Wasielewski, R.; Mengel, M.; Fischer, R.; Hansmann, M. L.; Hübner, K.; Franklin, J.; Tesch, H.; Paulus, U.; Werner, M.; Diehl, V.; Georgii, A.

    1997-01-01

    Antibodies against CD15, -30, and -20 are often used to support morphological diagnosis of Hodgkin's Disease (HD). The classical HD, i.e., the non-lymphocyte-predominance types, are CD15+, CD30+, and CD20- in general. However, the results for CD15 are less clear-cut in many studies, showing up to 40% of classical HD that lack positivity for this maker. Little is currently known about the relevance of antigen expression in relation to clinical outcome in HD. Therefore, the three markers were analyzed in 1751 cases from the German Hodgkin Study Group, using micro-wave epitope retrieval to optimize staining sensitivity. Eighty-three percent of the cases showed a classical immunophenotype (CD15+, CD30+, CD20-), twelve percent lacked CD15 positivity (CD15-, CD30+, CD20-), and five percent showed other combinations. For 1286 cases, clinical follow-up was available, which revealed significant differences for freedom from treatment failure (P = 0.0022) and overall survival (P = 0.0001) between cases with classical immunophenotype and CD15 negativity (CD30+, CD20-). Multivariate Cox regression using the three markers, age, sex, histology, stage, B-symptoms (fever, sweats, weight loss > 10% of body weight), hemoglobin, and erythrocyte sedimentation rate as factors showed that lack of CD15 expression in classical HD is an independent negative prognostic factor for relapses (P = 0.022) and survival (P = 0.0035). In conclusion, immunohistochemistry is able to identify classical HD cases with unfavorable clinical outcome. Images Figure 5 Figure 6 PMID:9327746

  6. Exercise hemorheology: classical data, recent findings and unresolved issues.

    PubMed

    Connes, Philippe; Simmonds, Michael J; Brun, Jean-Frederic; Baskurt, Oguz K

    2013-01-01

    The present review focuses on the past and recent knowledge in the field of exercise hemorheology and presents some unresolved issues for opening discussion. Acute exercise is associated with a rise in hematocrit which results in an increase in blood viscosity. Whereas increased blood viscosity was previously viewed as having negative consequences for cardiovascular function and aerobic performance, recent findings suggest dynamic changes in blood viscosity might be useful for vascular function during exercise by increasing nitric oxide production. Other determinants of blood viscosity are altered by exercise (e.g., decreased red blood cell deformability, increased red blood cell aggregation and plasma viscosity) and may, independent of the associated effect on blood viscosity, directly modulate aerobic capacity. However, the data published on the effects of exercise on the hemorheology are not consistent, with some studies showing decreased, unchanged, or increased red blood cell deformability/aggregation when compared with rest. These discrepancies seem to be related to the exercise protocol investigated, the population tested or the methodogy utilized for hemorheological measurements. Finally, this review focuses on the effects of exercise training (i.e. chronic physical activity) on the hemorheological profile of healthy individuals and patients with cardiovascular and metabolic disorders. PMID:23042105

  7. Acute pancreatitis: clinical vs. CT findings

    SciTech Connect

    Hill, M.C.; Barkin, J.; Isikoff, M.B.; Silver stein, W.; Kalser, M.

    1982-08-01

    In a prospective study of 91 patients with acute pancreatitis, computed tomographic (CT) findings were correlated with the clinical type of acute pancreatitis. In acute edematous pancreatitis (63 patients; 16 with repeat CT), CT was normal (28%) or showed inflammation limited to the pancreas (61%). Phlegmonous changes were present in 11%, including one patient with focal pancreatic hemorrhage, indicating that clinically unsuspected hemorrhagic pancreatitis can occur. In acute necrotizing (hemorrhagic, suppurative) pancreatitis (nine patients; eight with repeat CT), no patient had a normal CT scan and 89% had phlegmonous changes. One patient had hemorrhagic pancreatitis and three had abscesses. In acute exacerbation of chronic pancreatitis (10 patients; three with repeat CT), there were pancreatic calcifications (70%), a focal mass (40%), and pancreatic ductal dilation (30%). On follow-up CT, the findings of acute pancreatitis did not always disappear with resolution of the clinical symptons. This was especialy true of phlegmonous pancreatitis, where the CT findings could persist for months.

  8. Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

    PubMed

    Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

    2013-08-01

    One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. PMID:23859346

  9. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

    PubMed Central

    Ribeiro, Lucilene A.; Roessler, Erich; Hu, Ping; Pineda-Alvarez, Daniel E.; Zhou, Nan; Jones, MaryPat; Chandrasekharappa, Settara; Richieri-Costa, Antonio; Muenke, Maximilian

    2012-01-01

    BACKGROUND Holoprosencephaly is the most frequent congenital malformation of the forebrain in humans. It is anatomically classified by the relative degree of abnormal formation and separation of the developing midline central nervous system. Mutations of ZIC2 are the second most common heterozygous variations detected in holoprosencephaly (HPE) patients. Mutations in most known HPE genes typically result in variable phenotypes that range from classical alobar HPE to microforms represented by hypotelorism, solitary central maxillary incisor (SCMI), cleft lip/palate, among others. Here we explore the molecular diagnostic yield of ZIC2 testing in subjects seen at a Brazilian craniofacial center (subjects with or without brain findings) and compare our results with other centers. METHODS We used Sanger bidirectional DNA sequencing in a cohort of 105 Brazilian patients within the clinical spectrum of HPE, including classical and microform groups. We also illustrate the use of capillary array genotyping of a common histidine tract expansion c.716_718dup (p.His239dup) on our cases and over 500 control individuals to document a wide extent of population variation. RESULTS We detected a total of five variants in the ZIC2 gene: an unusually common histidine tract expansion c.716_718dup (p.His239dup), a rare c.1377_1391del_homozygous (p.Ala466_470del, or Ala 15 to 10 contraction), a novel intronic c.1239+18G>A variant, a novel frameshift c.1215dupC (p.Ser406Glnfs*11), and a c.1401_1406dup (p.Ala469_470dup, or alanine tract expansion to 17 residues). CONCLUSIONS From these patients, we concluded that only the latter two mutations found in classical HPE are likely medically significant. In contrast, variants detected in the microform group are not likely pathogenic. In particular, we confirm that the extremely common histidine tract expansion is indeed a polymorphic alteration which demonstrates considerable differences in allele frequencies across different ethnic groups

  10. Pediatric Stroke: Clinical Findings and Radiological Approach

    PubMed Central

    Lanni, Giuseppe; Catalucci, Alessia; Conti, Laura; Di Sibio, Alessandra; Paonessa, Amalia; Gallucci, Massimo

    2011-01-01

    This paper focuses on radiological approach in pediatric stroke including both ischemic stroke (Arterial Ischemic Stroke and Cerebral Sinovenous Thrombosis) and hemorrhagic stroke. Etiopathology and main clinical findings are examined as well. Magnetic Resonance Imaging could be considered as the first-choice diagnostic exam, offering a complete diagnostic set of information both in the discrimination between ischemic/hemorrhagic stroke and in the identification of underlying causes. In addition, Magnetic Resonance vascular techniques supply further information about cerebral arterial and venous circulation. Computed Tomography, for its limits and radiation exposure, should be used only when Magnetic Resonance is not available and on unstable patients. PMID:21603166

  11. Clinical findings among hard metal workers.

    PubMed Central

    Fischbein, A; Luo, J C; Solomon, S J; Horowitz, S; Hailoo, W; Miller, A

    1992-01-01

    In 1940, the first report appeared describing a pulmonary disorder associated with occupational exposures in the cemented tungsten carbide industry. The disease, known as "hard metal disease," has subsequently been characterised in detail and comprises a wide range of clinical signs and symptoms. In this report, clinical findings in a group of 41 hard metal workers employed until recently are described. A high prevalence of respiratory symptoms was found. Thirteen workers (31%) had abnormal chest radiographs indicative of interstitial lung disease. Fifty per cent of these had been employed in hard metal manufacturing for less than 10 years. Abnormalities of pulmonary function were also frequent and included a restrictive pattern of impairment and decrease in diffusing capacity (27%). Associations were found between diffusing capacity, chest radiographic abnormalities and right ventricular ejection fraction at exercise indicating cardiopulmonary effects. The findings show the continuous need to control excessive occupational exposures to prevent hard metal disease, the history of which now enters its sixth decade. PMID:1733452

  12. Putting Research Findings into Clinical Practice

    PubMed Central

    Bhargava, Deepa; Al-Lawatia, Zainab; Al-Abri, Rashid; Bhargava, Kamlesh

    2012-01-01

    Objectives: A perception exists that clinicians in Oman are reluctant to adopt evidence-based practice (EBP). This pilot study was undertaken to study the feasibility of using EBP pathways at the point of care in otorhinolaryngology head and neck surgery. The ultimate aim was to facilitate EBP with the probability of developing a new system for implementing research findings/translational research at the clinical point of care. Methods: A cross-sectional prospective questionnaire pilot survey of clinicians at Sultan Qaboos University Hospital (SQUH), Oman, a tertiary care medical centre, was undertaken. Respondents included 135 physicians and surgeons with between 3 months and 25 years of clinical experience and included personnel ranging from interns to senior consultants, in areas ranging from primary care to specialist care. Results: Of those polled, 90% (95% confidence interval (CI) 85–95%) either strongly agreed or agreed that evidence-based practice protocols (EBPP) could help in decision making. A total of 87.4% of participants (95% CI 81.8–93%) either strongly agreed or agreed that EBPPs can improve clinical outcomes; 91.8% of participants (95% CI 87.2–96.4%) would use and apply EBPP in day-to-day care if they were available at the point of care and embedded in the hospital information system. Conclusions: The perception that clinicians at SQUH are reluctant to adopt EBP is incorrect. The introduction of EBP pathways is very feasible at the primary care level. Institutional support for embedding EBP in hospital information systems is needed as well as further outcome research to assess the improvement in quality of care. PMID:22548137

  13. Using Classic and Contemporary Visual Images in Clinical Teaching.

    ERIC Educational Resources Information Center

    Edwards, Janine C.

    1990-01-01

    The patient's body is an image that medical students and residents use to process information. The classic use of images using the patient is qualitative and personal. The contemporary use of images is quantitative and impersonal. The contemporary use of imaging includes radiographic, nuclear, scintigraphic, and nuclear magnetic resonance…

  14. Prenatal Antidepressant Exposure: Clinical and Preclinical Findings

    PubMed Central

    Bourke, Chase H.; Stowe, Zachary N.

    2014-01-01

    Pharmacological treatment of any maternal illness during pregnancy warrants consideration of the consequences of the illness and/or medication for both the mother and unborn child. In the case of major depressive disorder, which affects up to 10–20% of pregnant women, the deleterious effects of untreated depression on the offspring can be profound and long lasting. Progress has been made in our understanding of the mechanism(s) of action of antidepressants, fetal exposure to these medications, and serotonin’s role in development. New technologies and careful study designs have enabled the accurate sampling of maternal serum, breast milk, umbilical cord serum, and infant serum psychotropic medication concentrations to characterize the magnitude of placental transfer and exposure through human breast milk. Despite this progress, the extant clinical literature is largely composed of case series, population-based patient registry data that are reliant on nonobjective means and retrospective recall to determine both medication and maternal depression exposure, and limited inclusion of suitable control groups for maternal depression. Conclusions drawn from such studies often fail to incorporate embryology/neurotransmitter ontogeny, appropriate gestational windows, or a critical discussion of statistically versus clinically significant. Similarly, preclinical studies have predominantly relied on dosing models, leading to exposures that may not be clinically relevant. The elucidation of a defined teratological effect or mechanism, if any, has yet to be conclusively demonstrated. The extant literature indicates that, in many cases, the benefits of antidepressant use during pregnancy for a depressed pregnant woman may outweigh potential risks. PMID:24567054

  15. Current clinical findings on monosodium glutamate.

    PubMed

    Livingstone, V H

    1981-07-01

    Monosodium glutamate (MSG) is a common and widely used food additive which has been passed as GRAS (generally recognized as safe) by the American Food and Drug Administration. However, it may have a significant adverse effect on certain individuals; the physician must be able to recognize the symptoms of MSG sensitivity, otherwise known as "Chinese Restaurant Syndrome". This article reviews current findings on MSG. PMID:21289773

  16. Clinical studies of styrene workers: initial findings.

    PubMed Central

    Lorimer, W V; Lilis, R; Nicholson, W J; Anderson, H; Fischbein, A; Daum, S; Rom, W; Rice, C; Selikoff, I J

    1976-01-01

    Styrene monomer is a high volume chemical used chiefly in production of polystyrene. A clinical survey of 493 production workers was undertaken at the oldest and largest monomer production, polymerization, and extrusion facility in the U.S. Relative exposure durations and levels were obtained from occupational histories. Significant differences between the high and low exposure groups were found with regard to history of acute prenarcotic symptoms, acute lower respiratory symptoms, prevalence of FEV 1/FV less than 75 per cent, and elevated GCTP. Other liver function tests, chest x-ray, FVC less than 80 per cent, and hematological parameters showed no distinct pattern. A concomitant mortality study has been mounted and is in progress. PMID:1026403

  17. Premature adrenarche: etiology, clinical findings, and consequences.

    PubMed

    Voutilainen, Raimo; Jääskeläinen, Jarmo

    2015-01-01

    Adrenarche means the morphological and functional change of the adrenal cortex leading to increasing production of adrenal androgen precursors (AAPs) in mid childhood, typically at around 5-8 years of age in humans. The AAPs dehydroepiandrosterone (DHEA) and its sulfate conjugate (DHEAS) are the best serum markers of adrenal androgen (AA) secretion and adrenarche. Normal ACTH secretion and action are needed for adrenarche, but additional inherent and exogenous factors regulate AA secretion. Inter-individual variation in the timing of adrenarche and serum concentrations of DHEA(S) in adolescence and adulthood are remarkable. Premature adrenarche (PA) is defined as the appearance of clinical signs of androgen action (pubic/axillary hair, adult type body odor, oily skin or hair, comedones, acne, accelerated statural growth) before the age of 8 years in girls or 9 years in boys associated with AAP concentrations high for the prepubertal chronological age. To accept the diagnosis of PA, central puberty, adrenocortical and gonadal sex hormone secreting tumors, congenital adrenal hyperplasia, and exogenous source of androgens need to be excluded. The individually variable peripheral conversion of circulating AAPs to biologically more active androgens (testosterone, dihydrotestosterone) and the androgen receptor activity in the target tissues are as important as the circulating AAP concentrations as determinants of androgen action. PA has gained much attention during the last decades, as it has been associated with small birth size, the metabolic and polycystic ovarian syndrome (PCOS), and thus with an increased risk for type 2 diabetes and cardiovascular diseases in later life. The aim of this review is to describe the known hormonal changes and their possible regulators in on-time and premature adrenarche, and the clinical features and possible later health problems associating with PA. PMID:24923732

  18. Findings from the Clinical Information Systems Perspective

    PubMed Central

    2015-01-01

    Summary Objective To summarize recent research and to propose a selection of best papers published in 2014 in the field of Clinical Information Systems (CIS). Method A query with search terms from the Medical Subject Headings (MeSH) catalog as well as additional free text search terms was designed to identify relevant publications in the field of clinical information systems from PubMed and Web of Science®. The retrieved articles were then categorized in a multi-pass review carried out separately by the section editors. The final selection of 15 candidate papers was then peer-reviewed by Yearbook editors and external reviewers. Based on the review results the four best papers were then selected at the best papers selection meeting with the IMIA Yearbook editorial board. Results The query was carried out in mid-January 2015, yielding a combined result set of 1525 articles which were published in 722 different journals. Among these articles two main thematic sections were identified: i) Interoperability from a syntactical and semantic point of view as well as from a long-term preservation and organizational/legal point of view and ii) secondary use of existing health data in all its shades. Here, patient safety was a major scope of application. Conclusions CIS have become mature over the last years. The focus has now moved beyond data acquisition for just supporting the local care workflows. Actual research efforts in the CIS domain comprise the breakdown of information silos, the reduction of barriers between different systems of different care providers and secondary use of accumulated health data for multiple purposes. PMID:26293854

  19. Clinical and electrodiagnostic findings in cyhalothrine poisoning.

    PubMed

    Basiri, Keivan; Mohaghegh, Mohammad Reza; Teimouri, Somayyeh Sadat; Okhovat, Ali Asghar

    2016-01-01

    Acute onset bulbar symptoms with respiratory failure and descending paralysis may occur in several neuromuscular disorders including variants of Guillain-Barre syndrome (GBS), diphtheria, botulism and toxins. We present a 51-year-old man who presented with complains of ptosis and dyspnea following pyrethroids spraying in an enclosed area for eradication of flea. Within 5-6 days of admission limb weakness, dysphagia, dysarthria, blurred vision, diplopia, tremor and respiratory distress added to previous symptoms. Temporal profile of events after exposure, development of similar symptoms in patient's son, electrodiagnostic findings and exclusion of other etiologies confirms intoxication etiology. We reviewed the literature and provide an extensive electrodiagnostic overview. PMID:27099845

  20. Clinical and electrodiagnostic findings in cyhalothrine poisoning

    PubMed Central

    Basiri, Keivan; Mohaghegh, Mohammad Reza; Teimouri, Somayyeh Sadat; Okhovat, Ali Asghar

    2016-01-01

    Acute onset bulbar symptoms with respiratory failure and descending paralysis may occur in several neuromuscular disorders including variants of Guillain-Barre syndrome (GBS), diphtheria, botulism and toxins. We present a 51-year-old man who presented with complains of ptosis and dyspnea following pyrethroids spraying in an enclosed area for eradication of flea. Within 5-6 days of admission limb weakness, dysphagia, dysarthria, blurred vision, diplopia, tremor and respiratory distress added to previous symptoms. Temporal profile of events after exposure, development of similar symptoms in patient's son, electrodiagnostic findings and exclusion of other etiologies confirms intoxication etiology. We reviewed the literature and provide an extensive electrodiagnostic overview. PMID:27099845

  1. Cobalamin Deficiency: Clinical Picture and Radiological Findings

    PubMed Central

    Briani, Chiara; Dalla Torre, Chiara; Citton, Valentina; Manara, Renzo; Pompanin, Sara; Binotto, Gianni; Adami, Fausto

    2013-01-01

    Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD), is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established. PMID:24248213

  2. Cobalamin deficiency: clinical picture and radiological findings.

    PubMed

    Briani, Chiara; Dalla Torre, Chiara; Citton, Valentina; Manara, Renzo; Pompanin, Sara; Binotto, Gianni; Adami, Fausto

    2013-11-01

    Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD), is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established. PMID:24248213

  3. Hemiplegic cerebral palsy: correlation between CT morphology and clinical findings.

    PubMed

    Wiklund, L M; Uvebrant, P

    1991-06-01

    Morphological findings on CT were compared with clinical features of 111 children with hemiplegic cerebral palsy. Periventricular atrophy, interpreted as periventricular leukomalacia, was the most prevalent CT finding, although this type of lesion did not indicate severity of neurological impairment. Maldevelopments were associated with arm-dominated hemiplegia and with a wider range of clinical impairments than previously described. Cortical/subcortical atrophy, less common than presumed, indicated arm-dominated hemiplegia and was associated with more severe impairment than were other CT findings. A normal CT scan indicated leg-dominated hemiplegia and mild impairment. The morphological information obtained by CT was found to be useful for predicting clinical outcome, and was considered an important adjunct to clinical history and findings in these children. PMID:1864477

  4. NIH-Supported Clinical Trial Finds Antidepressant Reduces Alzheimer's Agitation

    MedlinePlus

    ... Plan National Alzheimer's Project Act (NAPA) About ADEAR NIH-supported clinical trial finds antidepressant reduces Alzheimer’s agitation February 25, 2014 NIH-funded researchers are testing interventions to alleviate psychiatric ...

  5. Renal findings in rheumatoid arthritis: clinical aspects of 132 necropsies.

    PubMed

    Boers, M; Croonen, A M; Dijkmans, B A; Breedveld, F C; Eulderink, F; Cats, A; Weening, J J

    1987-09-01

    Renal abnormalities in 132 necropsied patients with rheumatoid arthritis were studied. Clinical findings before death included extra-articular manifestations of the disease (86% of patients), systemic vasculitis (6%), and uraemia (23%). Necropsy findings included nephrosclerosis (90%), systemic vasculitis (14%) with kidney involvement in 8%, amyloidosis (11%), membranous glomerulopathy (8%), and focal glomerular disease (8%). Association with clinical data suggests that both rheumatoid and non-rheumatoid disease may play a part in the cause of these abnormalities. PMID:3675007

  6. Clinical and radiological findings of a bilateral coronoid hyperplasia case

    PubMed Central

    Torenek, Kubra; Duman, Suayip Burak; Bayrakdar, Ibrahim Sevki; Miloglu, Ozkan

    2015-01-01

    Coronoid hyperplasia (CH) is an infrequent condition that can be defined as an abnormal bony elongation of histologically normal bone. Progressive and painless difficulty in opening the mouth is the main clinical finding of CH. In this case report, the clinical and radiological findings for a 23-year-old male patient with bilateral CH are presented. When plain radiographies are not sufficient for diagnosis and evaluation of the CH, cone-beam computed tomography can be used. PMID:25713499

  7. Modic changes and their associations with clinical findings

    PubMed Central

    Korsholm, Lars; Bendix, Tom; Sorensen, Joan S.; Leboeuf-Yde, Charlotte

    2006-01-01

    It is believed that disc degeneration (DD) is, in general, only mildly associated with low back pain (LBP). MRI-identified Modic changes (MC), probably a late stage of DD, are relatively strongly associated with LBP but it is not known if people with MC also have a specific clinical profile. The purpose of this study was to investigate if the clinical findings differ in people with Modic changes (MC) as compared to those with only degenerative disc findings or none at all. In a population-based sample of 412 40-year-old Danes, information was collected independently with MRI, questionnaires and clinical examination. Three subgroups of people were created: those with both DD and MC, those with only DD, and those with neither DD nor MC. The clinical pattern was investigated for each subgroup in order to test the assumption that the clinical picture differs in the three groups. It was expected that people with both DD and MC would have a more pronounced clinical profile than those with only DD who, in turn, would differ from those with neither of these two MRI findings. Our findings were generally in concordance with our expectations. MC constitutes the crucial element in the degenerative process around the disc in relation to LBP, history, and clinical findings. People with DD and no MC only vaguely differ from those without. People with LBP and MC may deserve to be diagnosed as having specific LBP. PMID:16896838

  8. Unexpected Findings in Magnetic Resonance Enterography and Their Clinical Significance

    PubMed Central

    Ravindran, Srivathsan; Hancox, Sarah Helen; Barlow, Neil; Dunk, Arthur; Howlett, David

    2016-01-01

    Aims. To identify the prevalence of colonic and extraenteric incidental findings in magnetic resonance enterography (MRE) and their clinical significance. Methods. We retrospectively analysed 470 MRE studies carried out between March 2012 and 2014. Incidental findings were defined as those not expected from or made apparent on the referral. MRE reports were reviewed for colonic and extraenteric findings, subcategorised into “clinically significant” and “insignificant.” Follow-up was identified from the electronic patient record. Results. The majority of MRE requests were made for inflammatory bowel disease (97%). In total, 114 incidental findings were noted in 94 (20%) scans performed. There were 29 “colonic” findings (25%) with 55% having a diagnosis of colitis. Out of 85 extraenteric findings, ovarian cysts (25%), renal cysts (10%), and abdominal lymphadenopathy (9%) were the commonest. Cumulatively, 59 cases were clinically significant (52%); of these, 30 findings were not previously diagnosed, amounting to 26% of all incidental findings. This led to intervention in seven patients. Conclusions. Incidental findings are common in MRE and there is a substantial proportion that is clinically significant and requires further investigation. There need to be stratification of risk and employment of local guidelines in order to achieve this. PMID:27446837

  9. Finds in Belize document Late Classic Maya salt making and canoe transport

    PubMed Central

    McKillop, Heather

    2005-01-01

    How did people in preIndustrial ancient civilizations produce and distribute bulk items, such as salt, needed for everyday use by their large urban populations? This report focuses on the ancient Maya who obtained quantities of salt at cities in the interior of the Yucatan peninsula of Mexico, Belize, and Guatemala in an area where salt is scarce. I report the discovery of 41 Late Classic Maya saltworks (anno Domini 600–900) in Punta Ycacos Lagoon on the south coast of Belize, including one with the first-known ancient Maya canoe paddle. The discoveries add important empirical information for evaluating the extent of surplus salt production and river transport during the height of Late Classic civilization in the southern Maya lowlands. The discovery of the saltworks indicates that there was extensive production and distribution of goods and resources outside the cities in the interior of the Yucatan. The discovery of a wooden canoe paddle from one of the Punta Ycacos saltworks, Ka'k' Naab', ties the production of salt to its inland transport by rivers and documents the importance of canoe trade between the coast and the interior during the Late Classic. Archaeological discovery of multiple saltworks on the Belizean coast represents surplus production of salt destined largely for the inland Peten Maya during their Late Classic peak, underscoring the importance of non-state-controlled workshop production in preIndustrial societies. PMID:15809426

  10. Clinical Manifestations, Laboratory Findings, and Treatment Outcomes of SARS Patients

    PubMed Central

    Wang, Jann-Tay; Sheng, Wang-Huei; Fang, Chi-Tai; Chen, Yee-Chun; Wang, Jiun-Ling; Yu, Chong-Jen; Yang, Pan-Chyr

    2004-01-01

    Clinical and laboratory data on severe acute respiratory syndrome (SARS), particularly on the temporal progression of abnormal laboratory findings, are limited. We conducted a prospective study on the clinical, radiologic, and hematologic findings of SARS patients with pneumonia, who were admitted to National Taiwan University Hospital from March 8 to June 15, 2003. Fever was the most frequent initial symptom, followed by cough, myalgia, dyspnea, and diarrhea. Twenty-four patients had various underlying diseases. Most patients had elevated C-reactive protein (CRP) levels and lymphopenia. Other common abnormal laboratory findings included leukopenia, thrombocytopenia, and elevated levels of aminotransferase, lactate dehydrogenase, and creatine kinase. These clinical and laboratory findings were exacerbated in most patients during the second week of disease. The overall case-fatality rate was 19.7%. By multivariate analysis, underlying disease and initial CRP level were predictive of death. PMID:15200814

  11. Neuronopathic Lysosomal Storage Diseases: Clinical and Pathologic Findings

    ERIC Educational Resources Information Center

    Prada, Carlos E.; Grabowski, Gregory A.

    2013-01-01

    Background: The lysosomal--autophagocytic system diseases (LASDs) affect multiple body systems including the central nervous system (CNS). The progressive CNS pathology has its onset at different ages, leading to neurodegeneration and early death. Methods: Literature review provided insight into the current clinical neurological findings,…

  12. The Clinical/Practicum Experience in Professional Preparation: Preliminary Findings

    ERIC Educational Resources Information Center

    Ralph, Edwin George; Walker, Keith; Wimmer, Randy

    2008-01-01

    The authors synthesize preliminary findings from an interdisciplinary study of the practicum/clinical phase of undergraduate pre-service education in the professions. Early data analysis identified similarities and differences across disciplines in terms of: (a) the terminology describing each practicum program, (b) the programs' key…

  13. Prader-Willi Syndrome: Clinical and Genetic Findings

    PubMed Central

    Butler, Merlin G.; Thompson, Travis

    2016-01-01

    Since the initial medical description by Prader, Labhart and Willi in 1956 of individuals with overlapping features, the Prader-Willi syndrome has become recognized as a classical but sporadic genetic syndrome. Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in humans. It is estimated that there are 350,000–400,000 people with this syndrome worldwide. Prader-Willi Syndrome Association USA knows of more than 3,400 persons with Prader-Willi syndrome in the USA out of an approximate 17,000–22,000. Prader-Willi syndrome with an incidence of 1 in 10,000 to 25,000 individuals and Angelman syndrome, an entirely different clinical condition, were the first examples in humans of genetic imprinting. Genetic imprinting or the differential expression of genetic information depending on the parent of origin plays a significant role in other conditions including malignancies.

  14. An incidental case of biliary fascioliasis with subtle clinical findings: US and MRCP findings

    PubMed Central

    Önder, Hakan; Ekici, Faysal; Adin, Emin; Kuday, Suzan; Gümüş, Hatice; Bilici, Aslan

    2013-01-01

    Background Fascioliasis is a disease caused by the trematode Fasciola hepatica. Cholangitis is a common clinical manifestation. Although fascioliasis may show various radiological and clinical features, cases without biliary dilatation are rare. Case report We present unique ultrasound (US) and magnetic resonance cholangiopancreatography (MRCP) findings of a biliary fascioliasis case which doesn’t have biliary obstruction or cholestasis. Radiologically, curvilinear parasites compatible with juvenile and mature Fasciola hepatica within the gallbladder and common bile duct were found. The parasites appear as bright echogenic structures with no acoustic shadow on US and hypo-intense curvilinear lesions on T2 weighted MRCP images. Conclusions Imaging studies may significantly contribute to the diagnosis of patients with subtle clinical and laboratory findings, particularly in endemic regions. PMID:23801908

  15. Nuggets: findings shared in multiple clinical case reports

    PubMed Central

    Smalheiser, Neil R.; Shao, Weixiang; Yu, Philip S.

    2015-01-01

    Objective The researchers assessed prevalence in the clinical case report literature of multiple reports independently reporting the same (or nearly the same) main finding. Methods Results from forty-five PubMed queries were examined for incidence and features of main findings (“nuggets”) shared in at least four case reports. Results The authors found that nuggets are surprisingly prevalent and large in the case report literature, the largest found so far was reported in seventeen articles. In most cases, the main findings of case reports were evident from examining titles alone. Conclusions Our curated examples should serve as gold standards for developing specific automated methods for finding nuggets. Nuggets potentially enable finding-based (instead of topic-based) information retrieval. PMID:26512214

  16. Diagnosis of Placental Abruption: Relationship between Clinical and Histopathological Findings

    PubMed Central

    Elsasser, Denise A.; Ananth, Cande V.; Prasad, Vinay; Vintzileos, Anthony M.

    2009-01-01

    Objective We evaluated the extent to which histologic lesions bearing a diagnosis of abruption conform to a diagnosis based on established clinical criteria. We further examined the profile of chronic and acute histologic lesions associated with clinical abruption. Methods Data from the New Jersey-Placental Abruption Study – a multi-center, case-control study – were utilized to compare the clinical and histologic criteria for abruption. The study was based on 162 women with clinically diagnosed abruption and 173 controls. We examined the concordance between clinical indicators for abruption with those of a histopathological diagnosis. The clinical criteria for a diagnosis of abruption included (i) evidence of retroplacental clot(s); (ii) abruption diagnosed on prenatal ultrasound; or (iii) vaginal bleeding accompanied by nonreassuring fetal status or uterine hypertonicity. The pathological criteria for abruption diagnosis included hematoma, fibrin deposition, compressed villi, and hemosiderin-laden histiocytes in cases with older hematomas. Acute lesions included chorioamnionitis, funisitis, acute deciduitis, meconium stained membranes, villous stromal hemorrhage, and villous edema. Chronic lesions included chronic deciduitis, decidual necrosis, decidual vasculopathy, placental infarctions, villous maldevelopment (delayed or accelerated maturation), hemosiderin deposition, intervillous thrombus, and chronic villitis. Results Of clinically diagnosed cases, the sensitivity and specificity for a histologic confirmation of abruption were 30.2% and 100%, respectively. Presence of retroplacental clots remained the single most common finding (77.1%) among clinically diagnosed cases. Among the acute lesions, chorioamnionitis and funisitis were associated with abruption. The only chronic histologic lesion associated with abruption was placental infarctions. Conclusions The concordance between clinical and pathologic criteria for abruption diagnosis is poor. The criteria

  17. Classic Clinical Technique Adapted to Demonstrate Autonomic Nervous System Physiology in an Undergraduate Laboratory Course

    PubMed Central

    Colgan, Wes

    2012-01-01

    The sympathetic skin response can be measured across the hands and feet with a simple bio amplifier. Controlled by the sympathetic nervous system, this response results from the activation of the eccrine sweat glands by many types of stimuli. This classical clinical test is used to evaluate peripheral neuropathies caused by a wide range of diseases, and can easily be adapted to teach a range of physiology applicable to neuroscience curricula. PMID:23494716

  18. Clinical Needs Finding: Developing the Virtual Experience, A Case Study

    PubMed Central

    Mittal, Vaishali; Thompson, Megan; Altman, Stuart M; Taylor, Peter; Summers, Alexander; Goodwin, Kelsey; Louie, Angelique Y

    2013-01-01

    We describe an innovative program at the University of California, Davis for students to engage in clinical needs finding. Using a team-based approach, students participated in clinical rotations to observe firsthand the needs of clinicians at the university affiliated medical center. The teams were asked to develop documentary-style videos to capture key experiences that would allow future viewers to use the videos as “virtual” clinical rotations. This was conceived as a strategy to allow students in prohibitively large classes, or students in programs at institutions without associated medical or veterinary school programs, to experience clinical rotations and perform needs assessments. The students' perspectives on the experience as well as instructor analysis of best practices for this type of activity are presented and discussed. We found that the internship experience was valuable to the students participating, by not only introducing the practice of needs finding but for increasing the students' confidence in the practice of engineering design and their ability to work independently. The videos produced were of such high quality that instructors from other institutions have requested copies for instructional use. Virtual clinical rotations through video experiences may provide a reasonable substitute for students who do not have the ability to participate in rotations in person. PMID:23483373

  19. Clinical findings in children with cutaneous anthrax in eastern Turkey.

    PubMed

    Akbayram, Sinan; Doğan, Murat; Akgün, Cihangir; Peker, Erdal; Bektaş, M Selçuk; Kaya, Avni; Caksen, Hüseyin; Oner, Ahmet Faik

    2010-01-01

    Anthrax is a zoonosis produced by Bacillus anthracis. The aim of this study was to evaluate the clinical findings, therapy, and outcome in children with cutaneous anthrax (CA). Data on age, gender, occupation, clinical symptoms and findings, location and type of lesions, clinical history, laboratory findings, treatment, and outcome were recorded from patients' medical records, retrospectively. The study included 65 patients between 1 month and 18 years old (9.0±4.0 years), 37 patients (56.9%) were male and 28 (43.1%) were female. Most of the patients (89.1%) were admitted in summer and autumn (p<0.001). Of the 65 patients, 20 patients (30.8%) had received antibiotherapy before admission to our hospital. All patients except one had a contact history with infected animals. A 1-month-old patient had a contact history with his mother who had CA. On clinical examination, anthrax edema was noted in 36 (55.3%) patients, anthrax pustule in 27 (41.5%), and anthrax edema and anthrax pustule in two (3%) patients. Gram staining and culture was positive for B. anthracis in 35 (53.8%) patients, and only Gram staining was positive in 10 (15.4%) patients. In the remaining 20 (30.8%) patients, the diagnosis was made by clinical findings. Because the anthrax outbreak in Turkey was associated with slaughtering or milking of ill cows, sheep, or goats, and handling raw meat without taking any protective measures, persons in the community must be educated about using personal protective equipment during slaughtering of animals and handling of meat and skins. PMID:21083757

  20. The significance of Candida pulcherrima findings in human clinical specimens.

    PubMed

    Pospisil, L

    1989-11-01

    From 1971 to 1976 the author examined by cultivation on Sabouraud glucose agar, 1720 specimens of the most varied materials--skin scales, nails, hair, beard, sputum--obtained from patients suffering from skin problems. In no one single case did he find Candida pulcherrima. However, since 1977 he has found C. pulcherrima to be on an increase. From 1977 to 1984 in 4644 specimens C. pulcherrima was found in 44 cases. 38 strains, i.e. 86%, were isolated from patients with clinical diagnosis of mycotic infection. The most frequent diagnosis was onychomycosis, 36%. Cultivation findings were mostly profuse and massive relative to the number of germs, in some patients even occurring repeatedly. In view of these findings it may be necessary to revise the views purporting the finding of C. pulcherrima from human material to be insignificant. PMID:2615783

  1. Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

    PubMed

    Smeets, E; Schollen, E; Moog, U; Matthijs, G; Herbergs, J; Smeets, H; Curfs, L; Schrander-Stumpel, C; Fryns, J P

    2003-10-15

    Rett syndrome (RTT) is a neurodevelopmental disorder which is diagnosed clinically. We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation. In these 24 females, the clinical manifestations, degree of severity, and disorder profiles are discussed as well as the genotype phenotype correlation. After X-chromosome inactivation (XCI) study in these cases, we found no correlation between skewing and milder phenotype. Three large deletions were found after additional Southern blot analysis in three classical RTT cases. We confirm that early truncating mutations in MECP2 are responsible for a more severe course of the disorder. Three disorder profiles related to the missense mutations R133C and R306C, and to deletions in the C terminal segment are described and are of interest for further clinical study on larger numbers of cases. The R133C genotype has a predominantly autistic presentation while the R306C genotype is associated with a slower disease progression. The phenotype of the "hotspot" deletions in the C terminal segment is predominantly characterized by rapid progressive neurogenic scoliosis. Older women with RTT are underdiagnosed: seven adults were first diagnosed as having RTT between 29 and 60 years of age, and confirmed on finding a MECP2 mutation. Knowledge of the clinical phenotype of RTT at an adult age is important for all involved in the care of these individuals. The involvement of the parent support group is very important in this matter. PMID:12966523

  2. 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

  3. Magnetic resonance neurographic findings in classic idiopathic neuralgic amyotrophy in subacute stage: a report of four cases.

    PubMed

    Park, Myung Seok; Kim, Du Hwan; Sung, Duk Hyun

    2014-04-01

    Neuralgic amyotrophy (NA) is characterized by acute onset of severe pain, followed by muscular weakness and wasting of the shoulder girdle. While the diagnosis of NA mainly relies on the clinical history and examination, some investigations including electrophysiologic study and radiologic study may help to confirm the diagnosis. Magnetic resonance neurography (MRN), a new technique for the evaluation of peripheral nerve disorders, can be helpful in the diagnosis of NA. MRN presents additional benefits in comparison to conventional magnetic resonance imaging in the diagnosis of idiopathic NA (INA). In this report, we present the first four cases of classic INA diagnosed with MRN in subacute stage. MRN imaging modality should be considered in patients clinically suspected of INA. PMID:24855627

  4. Word-finding difficulty: a clinical analysis of the progressive aphasias

    PubMed Central

    Rohrer, Jonathan D.; Knight, William D.; Warren, Jane E.; Fox, Nick C.; Rossor, Martin N.; Warren, Jason D.

    2008-01-01

    The patient with word-finding difficulty presents a common and challenging clinical problem. The complaint of ‘word-finding difficulty’ covers a wide range of clinical phenomena and may signify any of a number of distinct pathophysiological processes. Although it occurs in a variety of clinical contexts, word-finding difficulty generally presents a diagnostic conundrum when it occurs as a leading or apparently isolated symptom, most often as the harbinger of degenerative disease: the progressive aphasias. Recent advances in the neurobiology of the focal, language-based dementias have transformed our understanding of these processes and the ways in which they breakdown in different diseases, but translation of this knowledge to the bedside is far from straightforward. Speech and language disturbances in the dementias present unique diagnostic and conceptual problems that are not fully captured by classical models derived from the study of vascular and other acute focal brain lesions. This has led to a reformulation of our understanding of how language is organized in the brain. In this review we seek to provide the clinical neurologist with a practical and theoretical bridge between the patient presenting with word-finding difficulty in the clinic and the evidence of the brain sciences. We delineate key illustrative speech and language syndromes in the degenerative dementias, compare these syndromes with the syndromes of acute brain damage, and indicate how the clinical syndromes relate to emerging neurolinguistic, neuroanatomical and neurobiological insights. We propose a conceptual framework for the analysis of word-finding difficulty, in order both better to define the patient's complaint and its differential diagnosis for the clinician and to identify unresolved issues as a stimulus to future work. PMID:17947337

  5. Clinical findings following Ahmed Glaucoma Valve™ implantation in pediatric glaucoma

    PubMed Central

    Pirouzian, Amir; Demer, Joseph L

    2008-01-01

    Purpose To describe clinical findings after Ahmed valve drainage implantation in children. Design All records in one practice were reviewed to identify and describe clinical findings in all children who had undergone Ahmed Glaucoma Valve™ S2 model insertion for uncontrolled primary or secondary glaucoma. Results A total of 6 patients were identified, ranging in age from 2–15 years. Mean follow-up time averaged from 2–5 years from the time of tube insertion. Three patients exhibited pupillary peaking towards the tube of the valve. All patients required additional surgery or additional medications to control intraocular pressure. Lenticular opacification near the tube site developed in one patient. Gradual tube extrusion was also noted in another two patients. Conclusion Multiple clinical events follow the Ahmed valve insertion in children. Pupillary irregularity is the most commonly noted event in this series. To avoid or reduce the risk of this complication, additional or modification of surgical procedures could be considered. The mechanism of such occurrence will further be discussed. PMID:19668395

  6. Clinical and Neuroimaging Findings of Sydenham’s Chorea

    PubMed Central

    Ekici, Arzu; Yakut, Ayten; Yimenicioglu, Sevgi; Bora Carman, Kursat; Saylısoy, Suzan

    2014-01-01

    Objective: Sydenham’s chorea (SC) is thought to be an autoimmune disorder. MRI is generally used to exclude other causes of chorea. There are no typically defined MRI features of SC. In this study we aimed to determine clinical and neuroimaging findings of SC. Methods: In this study 17 patients with acute SC were retrospectively evaluated. Sydenham’s chorea was diagnosed according to the 1992 revision of the Jones criteria. The other causes of chorea were excluded. Cranial MRI was performed in all patients during the acute phase of SC. Walking, speech and swallowing disorders, muscle weakness, behavioral disorders, treatment, symptom recovery time and recurrence were evaluated. Findings : The patients’ mean age was 11.2 years. Behavioral changes, muscle weakness and dysphagia occurred in 70%, 64% and 23% of the patients, respectively. Nonspecific signal hyperintensities were observed in the white matter, brain stem and caudate nucleus in 47% of patients. Two patients who had chorea paralytica were treated successfully with a high dose of intravenous methylprednisolone. Conclusion: Nonspecific hyperintense white matter abnormalities may be due to the inflammatory process associated with a longer duration of clinical signs. To explain the MRI findings and the pathogenesis of SC, comprehensive studies are needed. PMID:25562024

  7. Clinical and pathological findings of Babesia infection in dogs.

    PubMed

    Irwin, P J; Hutchinson, G W

    1991-06-01

    The clinical and pathological findings of Babesia infection in 32 dogs in northern Australia are presented. Eleven different breed types were represented from 6 localities in north Queensland and one locality in northern Western Australia. Twenty three (72%) were males. Babesia-infected dogs were grouped by the degree of haematological disturbance and clinical severity: Acute babesiosis (25/32), all pups with severe haemolytic anaemia; subclinical carriers (5/32) with non-specific malaise, characterised haematologically by a normal erythrogram but marked leucopenia; chronic anaemia, observed in 2 adult dogs. Pups were azotaemic (serum urea greater than 6.6 mmol/l) and had elevated serum bilirubin levels (20.8 to 48.5 mmol/l). Total serum protein was usually within the normal range. Pups that died were also hypoglycaemic and severely hyperkalaemic (K+ greater than 10 mmol/l). Low parasitaemias in routine blood smears complicated diagnosis but smears made from ear or toe capillaries, or after haematocrit concentration, greatly enhanced finding parasitised cells. At necropsy, pallor and jaundice were the most consistent observations. Haemoglobinuric nephrosis, an active reticulo-endothelial system and capillaries packed with large numbers of infected erythrocytes were the main histopathological findings. A combination of imidocarb dipropionate at 5 mg/kg body weight, given intramuscularly, with fluid therapy and blood transfusion was the most successful treatment. PMID:1888313

  8. Clinical Benefits of Electronic Health Record Use: National Findings

    PubMed Central

    King, Jennifer; Patel, Vaishali; Jamoom, Eric W; Furukawa, Michael F

    2014-01-01

    Objective To assess whether physicians’ reported electronic health record (EHR) use provides clinical benefits and whether benefits depend on using an EHR meeting Meaningful Use criteria or length of EHR experience. Data Source The 2011 Physician Workflow study, representative of U.S. office-based physicians. Study Design Cross-sectional data were used to examine the association of EHR use with enhanced patient care overall and nine specific clinical benefits. Principal Findings Most physicians with EHRs reported EHR use enhanced patient care overall (78 percent), helped them access a patient’s chart remotely (81 percent), and alerted them to a potential medication error (65 percent) and critical lab values (62 percent). Between 30 and 50 percent of physicians reported that EHR use was associated with clinical benefits related to providing recommended care, ordering appropriate tests, and facilitating patient communication. Using EHRs that met Meaningful Use criteria and having 2 or more years of EHR experience were independently associated with reported benefits. Physicians with EHRs meeting Meaningful Use criteria and longer EHR experience were most likely to report benefits across all 10 measures. Conclusions Physicians reported EHR use enhanced patient care overall. Clinical benefits were most likely to be reported by physicians using EHRs meeting Meaningful Use criteria and longer EHR experience. PMID:24359580

  9. A Role for Estrogen in Schizophrenia: Clinical and Preclinical Findings.

    PubMed

    Gogos, Andrea; Sbisa, Alyssa M; Sun, Jeehae; Gibbons, Andrew; Udawela, Madhara; Dean, Brian

    2015-01-01

    Gender differences in schizophrenia have been extensively researched and it is being increasingly accepted that gonadal steroids are strongly attributed to this phenomenon. Of the various hormones implicated, the estrogen hypothesis has been the most widely researched one and it postulates that estrogen exerts a protective effect by buffering females against the development and severity of the illness. In this review, we comprehensively analyse studies that have investigated the effects of estrogen, in particular 17β-estradiol, in clinical, animal, and molecular research with relevance to schizophrenia. Specifically, we discuss the current evidence on estrogen dysfunction in schizophrenia patients and review the clinical findings on the use of estradiol as an adjunctive treatment in schizophrenia patients. Preclinical research that has used animal models and molecular probes to investigate estradiol's underlying protective mechanisms is also substantially discussed, with particular focus on estradiol's impact on the major neurotransmitter systems implicated in schizophrenia, namely, the dopamine, serotonin, and glutamate systems. PMID:26491441

  10. Efficacy and Safety of Saffron Supplementation: Current Clinical Findings.

    PubMed

    Broadhead, G K; Chang, A; Grigg, J; McCluskey, P

    2016-12-01

    Saffron (Crocus savitus) is a Middle-Eastern herb with strong antioxidant properties. Its major constituents, safranal, crocin, and crocetin, are also antioxidants and bear structural similarities to other well-known natural antixodant substances, such as zeaxanthin. Given the role of oxidative stress in many diseases, considerable interest has been shown into the potential role of saffron supplementation as a treatment for a range of diseases. In vitro and animal studies have provided evidence that saffron and its constituents may be potent therapies for a range of pathologies, including Alzheimer's disease, age-related macular degeneration (AMD) and cardiac ischemia. Whether these findings translate into clinical efficacy, however, has as of yet been incompletely assessed. This makes assessing the role of saffron supplementation in these diseases difficult. Here, we review the current human clinical evidence supporting saffron supplementation as a treatment for a range of pathologies and the underlying science supporting its use. PMID:25875654

  11. A Role for Estrogen in Schizophrenia: Clinical and Preclinical Findings

    PubMed Central

    Gogos, Andrea; Sbisa, Alyssa M.; Sun, Jeehae; Gibbons, Andrew; Udawela, Madhara; Dean, Brian

    2015-01-01

    Gender differences in schizophrenia have been extensively researched and it is being increasingly accepted that gonadal steroids are strongly attributed to this phenomenon. Of the various hormones implicated, the estrogen hypothesis has been the most widely researched one and it postulates that estrogen exerts a protective effect by buffering females against the development and severity of the illness. In this review, we comprehensively analyse studies that have investigated the effects of estrogen, in particular 17β-estradiol, in clinical, animal, and molecular research with relevance to schizophrenia. Specifically, we discuss the current evidence on estrogen dysfunction in schizophrenia patients and review the clinical findings on the use of estradiol as an adjunctive treatment in schizophrenia patients. Preclinical research that has used animal models and molecular probes to investigate estradiol's underlying protective mechanisms is also substantially discussed, with particular focus on estradiol's impact on the major neurotransmitter systems implicated in schizophrenia, namely, the dopamine, serotonin, and glutamate systems. PMID:26491441

  12. [Clinical features of NMO according to brain MRI findings].

    PubMed

    Shimizu, Yuko

    2010-09-01

    Neuromyelitis optica (NMO) is a severe inflammatory, demyelinating disease, and its clinical characteristics include recurrent optic neuritis and longitudinally extensive transverse myelitis. The NMO-immunoglobulin (Ig) G auto-antibody (Ab), which binds to the aquaporin-4 (AQP4) water channel protein, is a marker for NMO. These clinical and immunological features have been used to distinguish NMO from multiple sclerosis (MS). In 1999, Wingerchuk et al. broadened the clinical criteria for diagnosing NMO to include "negative brain magnetic resonance imaging (MRI) at onset." However, after NMO-IgG/AQP4-Ab became a supportive criterion for diagnosing NMO, patients with NMO were frequently found to have symptomatic or asymptomatic brain lesions. In 2006, Pittock et al. reported that asymptomatic brain lesions were common in NMO, and that NMO brain lesions characteristically occurred in the hypothalamus and periventricular areas, which correspond to brain regions with high levels of AQP4 expression. Furthermore, Nakashima et al. detected abnormalities on brain MRI in 71% of NMO-IgG-positive Japanese patients. Patients with NMO have unique brain lesions that are clearly different from the lesions of patients with MS. In patients with NMO, involvement of the dorsal portion of the medulla oblongata causes intractable hiccups and nausea. Some studies described a hypothalamic lesion, and hypothalamic dysfunction could cause symptomatic hypersomnia, narcolepsy, and endocrinopathies. In some patients with NMO and NMO spectrum disorder who experience blood pressure fluctuations, vasogenic edema, manifesting as posterior reversible encephalopathy syndrome, may occur. In a recent report highlighting brain MRI with contrast enhancement, the most prominent feature that appeared to be a specific finding in NMO was "cloud-like enhancement" with multiple patchy enhancing lesions with a blurred margin. Another report showed that acute, large, edematous callosal lesions with

  13. [Clinical and endocrinological findings of bitches with ovarian cyst syndrome].

    PubMed

    Bostedt, H; Jung, C; Wehrend, A; Boryzcko, Z

    2013-10-01

    Aim of this study was to record the clinical findings in bitches with ovarian cyst syndrome (OCS) and to interpret them in connection with the endocrine status in peripheral blood and in cyst liquid. For our investigation 16 bitches of different breeds with an average age of 9.7 years were used. They have been presented to the clinic due to different gynecological symptoms. The leading symptom was in 87.5 % of the cases a chronic vaginal secretion. In addition to a detailed anamnesis a clinical examination was performed including vaginalcytologic, sonographic, hematologic and hormonal findings (progesterone P4, 17β estradiol E2). As basic diagnoses could be made: Cycle aberrations (n = 8), pyometra endometritis complex (n = 4), vaginal tumor (n = 4). In addition 3 patients were presented with alopecia. All patients were ovariohysterectomized without prior conservative treatment and the ovaries histologically examined and classified. Based on sonographic findings before and macroscopic evaluation the ovaries after surgery, the OCS could be divided into an oligocystic and polycystic syndrome. There were predominating (94 %) follicle theca cysts. The formation of cysts on the ovary was in the vast majority (66.7 %) combined with corpora lutea. The endometrium showed mainly (50 %) a glandular cystic hyperplasia (CHE) and the hematologic examination revealed in 31.2 % of the patients a combination of advanced erythropenia and thrombocytopenia. Generally there was no direct relationship between increased P4 and E2 values in the pooled cyst fluid and in the peripheral blood when the oestrous phase was considered. Based on present data the diagnosis of OCS of the bitch by means of peripheral P4 and E2 values is not possible. PMID:24091229

  14. Abdominal Wall Endometrioma: Ultrasonographic Features and Correlation with Clinical Findings

    PubMed Central

    Solak, Aynur; Genç, Berhan; Yalaz, Seyhan; Şahin, Neslin; Sezer, Taylan Özgür; Solak, İlhami

    2013-01-01

    Background: The diagnosis of abdominal wall endometrioma (AWE) is often confused with other surgical conditions. Certain factors relating to knowledge of the clinical history of the disease make correct diagnosis and treatment difficult. Aims: To present the clinical findings and ultrasonographic (US) features of AWE with special emphasis on size-related features. Study Design: This study reviewed abdominal wall endometriomas during a 2-year period in the Radiology Department of Sifa University Hospital, Izmir. Methods: Eleven women (mean age 32.6 years) with 12 scar endometriomas (mean diameter 29.2 mm) were consecutively evaluated by US and Colour Doppler examination (CDUS) prior to surgery. Lesions were grouped into large (≥3 cm) and small nodules. Vascularisation was classified as location (central, peripheral and mixed) and severity (absent, moderately vascular and hypervascular). In each patient, the nature of pain (absent, cyclic: associated with menstruation and continuous), historical and clinical data were documented. Four patients underwent Magnetic Resonance Imaging and their findings were presented. Fisher’s exact test, χ2 test for categorical data and the unpaired T-test for continuous variables were used for statistical analysis. Results: In all the women, US of the AWE showed the presence of a solid hypoechoic mass (less echogenic than the surrounding hyperechoic fat) within the abdominal wall. There was a significant correlation between AWE sizes with repeated caesareans and the mean time between the last operation and admission to hospital (p<0.05). Large endometriomas showed increased central vascularity (p<0.05). Cyclic pain was more frequent in small lesions, whereas continuous pain was more commonly found in patients with larger lesions (p<0.05). Conclusion: AWE is often misdiagnosed clinically because endometriosis may occur years after the caesarean section, the pain is often non-cyclic in nature, and there is not always a palpable

  15. Venous compression syndromes: clinical features, imaging findings and management

    PubMed Central

    Liu, R; Oliveira, G R; Ganguli, S; Kalva, S

    2013-01-01

    Extrinsic venous compression is caused by compression of the veins in tight anatomic spaces by adjacent structures, and is seen in a number of locations. Venous compression syndromes, including Paget–Schroetter syndrome, Nutcracker syndrome, May–Thurner syndrome and popliteal venous compression will be discussed. These syndromes are usually seen in young, otherwise healthy individuals, and can lead to significant overall morbidity. Aside from clinical findings and physical examination, diagnosis can be made with ultrasound, CT, or MR conventional venography. Symptoms and haemodynamic significance of the compression determine the ideal treatment method. PMID:23908347

  16. Graves orbitopathy: correlation of CT and clinical findings.

    PubMed

    Nugent, R A; Belkin, R I; Neigel, J M; Rootman, J; Robertson, W D; Spinelli, J; Graeb, D A

    1990-12-01

    The clinical and high-resolution computed tomographic (CT) findings in 71 patients (142 orbits) with Graves orbitopathy and 20 healthy patients (40 orbits) were retrospectively reviewed. The orbits with orbitopathy were subgrouped at clinical examination into those with (n = 18) and those without (n = 124) optic neuropathy. Mean extraocular muscle diameters and the calculated muscle diameter index were significantly increased in all orbits with ophthalmopathy, particularly in those with optic neuropathy. Graves orbitopathy affected the superior muscle group (63.4%) more than the medial (61.3%) or inferior (57%) recti. The most common pattern of muscle involvement involved all five measured extraocular muscles. Solitary muscle involvement most frequently involved the superior muscle group (6.3%). Significant enlargements of the retrobulbar optic nerve sheath and superior ophthalmic vein were noted only in orbits with optic neuropathy. Anterior displacement of the lacrimal gland at CT correlated with clinical palpability and occurred more frequently in patients with optic neuropathy. Severe apical crowding was the most sensitive indication of optic neuropathy at CT. PMID:2243967

  17. Reliability of Japanese clinical trials estimated from GCP audit findings.

    PubMed

    Saito, K; Kodama, Y; Ono, S; Maida, C; Fujimura, A; Miyamoto, E

    2008-08-01

    To describe the reliability of Japanese clinical trials, we compared the results of a Good Clinical Practice (GCP) audit conducted between April 1997 and March 2000 (fiscal year (FY) 1997 - 1999) with those from April 2004 - March 2005 (FY2004). The number and proportion of various types of deficiencies described in GCP audit reports were compared between the 2 periods. The audit findings in the former period were based on official audits that covered 331 hospitals and 775 trials. The audits in the latter period targeted 114 hospitals and 189 trials. The inspection of former period was undertaken by the Organization for Pharmaceuticals Safety and Research (OPSR). On the other hand, the latter period was undertaken by the Pharmaceuticals and Medical Devices Agency (PMDA). The total number of deficiencies detected in GCP audits was 1,529 in the former 3-year period (FY1997 - 1999) and 819 in the latter period (FY2004). The total number of deficiencies detected and reported was more than 1.5-fold on an annual basis in the latter period. By category of deficiencies, the proportion of protocol deviations increased from 14.7 (225/1,529) to 45.7% (374/819), while the proportion of errors in case report forms (CRFs) decreased from 43.6 (666/ 1,529) to 27.1% (222/819). There were two remarkable changes in audit findings between FY1997 - 1999 and FY2004; the increase in the proportion of protocol deviations and the decrease in the proportion of CRF-related deficiencies. We think that in Japan the improvement of research environments is needed to provide reliable clinical data responsible for the regulatory standard of GCP. PMID:18793583

  18. Clinical findings and treatment in cattle with caecal dilatation

    PubMed Central

    2012-01-01

    Background This retrospective study describes the clinical and laboratory findings, treatment and outcome of 461 cattle with caecal dilatation. Results The general condition and demeanor were abnormal in 93.1% of cases, and 32.1% of the patients had colic. Ruminal motility was reduced or absent in 78.3% of cattle. In 82.6% of cases, swinging and/or percussion auscultation were positive on the right side, and 82.4% had little or no faeces in the rectum. Caecal dilatation could be diagnosed via rectal palpation in 405 (88.0%) cattle. There was caudal displacement of the dilated caecum in 291 patients, torsion around the longitudinal axis in 20 and retroflexion in 94. The most important laboratory finding was hypocalcaemia, which occurred in 85.1% of cases. Of the 461 cattle, 122 (26.5%) initially received conservative therapy (intravenous fluids, neostigmine, calcium borogluconate) and 329 (71.4%) underwent surgical treatment. Ten patients were slaughtered or euthanased after the initial physical examination. Of the 122 cattle that received conservative treatment, 42 did not respond after one to two days of therapy and required surgical treatment. The final number of cattle that were operated was 371 (80.5%). Because of a grave prognosis, 24 cases were euthanased or slaughtered intraoperatively. Another 24 cattle did not respond to one or more operations and were euthanased or slaughtered. Of the 461 patients, 403 (87.4%) responded to either conservative or surgical treatment and were cured, and 58 were euthanased or slaughtered. Conclusions Caecal dilatation can usually be diagnosed based on clinical findings and treated conservatively or surgically. Swinging and percussion auscultation as well as rectal examination are important diagnostic tools. Conservative treatment is not rewarding in cattle considered surgical candidates with suspected caecal torsion or retroflexion and surgery should not be delayed in these patients. PMID:22656369

  19. Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings

    PubMed Central

    Nobre, RM; Ribeiro, ALR; Alves-Junior, SM; Tuji, FM; Rodrigues Pinheiro, M das G; Pinheiro, LR; Pinheiro, JJV

    2012-01-01

    Objectives A wide variety of manifestations is presented in patients with Gaucher's disease (GD), including bone, haematology and visceral disturbances. This study was conducted to ascertain the main maxillofacial abnormalities by means of clinical survey, panoramic and cone beam CT (CBCT); to compare the patient's group with an age–sex matched control group; and to correlate clinical and radiological data. Methods Ten patients previously diagnosed with GD were submitted to clinical and radiological surveys (CBCT and panoramic radiographs). The examination consisted of anamnesis, extra- and intraoral examinations and analyses of each patient's records. Imaging data were collected from the point of view of 3 observers, and the results compared with a healthy group (20 individuals) by means of statistical analysis (Fisher's exact test). Results Gaucher patients had significantly more manifestations than otherwise healthy carriers. The most prevalent findings were enlarged marrow spaces, generalized osteopenia and effacement of jaw structures (mandibular canal, lamina dura and mental foramen). Here we describe a case in which thickening of the maxillary sinus mucosa was observed on CBCT rather than opacification of the sinus as seen on panoramic radiographs. Pathological fractures, root resorption and delay on tooth eruption were not observed. Conclusions A poor relationship could be observed between clinical and radiological data. Patients showed important bone manifestations, which require careful diagnostic and surgical planning whenever necessary. Although panoramic radiographs have shown significant differences, CBCT is more effective in pointing out differences between patients and a control group, thus showing it as an important tool for evaluation of Gaucher patients. PMID:22988312

  20. [Brain MRI findings in Japanese patients with clinically isolated syndrome].

    PubMed

    Tanaka, Masami; Motoyama, Rie; Tahara, Masayuki; Tanaka, Keiko

    2012-01-01

    Treatment of patients with clinically isolated syndrome (CIS) with disease modifying drugs including interferon β delays conversion to clinically definite multiple sclerosis (MS). However, CIS patients do not necessarily develop MS even after 20 years. Brain MRI lesions were required for CIS patients to include in clinical trials such as CHAMPS study and BENEFIT study. CIS patients with brain MRI lesions compatible to MS were considered as high risk to convert to MS in western countries. Previously we reported that asymptomatic enhancing brain lesions (AEBLs) were found in 9/23 (39.1%) of MS patients who had suffered at least one relapse in the preceding year or two relapses in the preceding 2 years, and the number of AEBLs per scan was 0.37, suggesting low disease activity of Japanese MS patients. We examined brain MRI findings in Japanese CIS patients and compared with those of Japanese MS patients at the first presentation. We reviewed brain MRI of 23 CIS visited our clinic from December 2007 to October 2010 who fulfilled the criteria proposed by Kappos et al. (2006) and Dalton et al (2002). Thirty two clinically definite MS (CDMS) patients fulfilled the first McDonald criteria (two or more attacks and objective clinical evidence of two or more lesions) proposed by Polman et al. (2005). Patients with neuromyelitis optica (NMO) and patients with NMO spectrum proposed by Wingerchuk et al. (2006) and Wingerchuk et al. (2007), respectively, were excluded. Patients with anti-aquaporin4 antibodies or with contiguous spinal cord lesion extending over three vertebral segments on MRI were also excluded. We could not obtain MRI of 11 patients with CDMS because of very long disease course, and 2 CIS and 13 CDMS patients had not been examined with MRI. So we examined 21 CIS and 8 CDMS patients at the first presentation using Paty criteria and Barkhof criteria. Eleven CIS patients did not meet any of the Barkhof criteria. Seven and 3 CIS patients met one and two of Barkhof

  1. Fluorescein angiographic findings and clinical features in Fuchs' uveitis.

    PubMed

    Bouchenaki, Nadia; Herbort, Carl P

    2010-10-01

    Fuchs' uveitis is very often diagnosed with substantial delay, which is at the origin of deleterious effects such as unnecessary treatment and its consequences. The aim of this study was to analyse the type and frequency of posterior inflammatory and fluorescein angiographic signs in Fuchs' uveitis in conjunction with other clinical signs. Patients seen at the Centre for Ophthalmic Specialised Care (COS) in Lausanne and the Memorial A. de Rothschild, Clinique Générale-Beaulieu in Geneva between 1995 and 2008 with the diagnosis of Fuchs' uveitis and who had undergone a fundus fluorescein angiography (FFA) were analysed. In addition to FFA signs, the data collected included age, gender, initial and final visual acuities, clinical findings at presentation, mean diagnostic delay and ocular complications. Between 1995 and 2008, 105 patients seen in our centres in Lausanne and Geneva were diagnosed with Fuchs' uveitis. Forty of them (38.1%) had undergone at least one FFA. One patient was excluded because of a concomittant diagnosis of multiple sclerosis. In 28 of 39 patients (71.2%) diagnosis was not reached at presentation with a mean diagnosis delay of 3.67 ± 4.86 years (range: 1 month-24 years). The original erroneous diagnosis was intermediate uveitis in 16 patients (57.1%), posterior uveitis in two patients (7.1%), panuveitis in four patients (14.3%) and anterior granulomatous uveitis in six patients (21.4%). Fluorescein angiography demonstrated the presence of disc hyperfluorescence in 43/44 eyes (97.7%), sectorial peripheral retinal vascular leaking in 6/44 eyes (13.6%) and cystoid macular oedema in 4/44 eyes (9.1%), all of which were seen in eyes having undergone cataract surgery. Fuchs' uveitis was bilateral in 5/39 patients (12.8%). The most frequent clinical signs were vitritis in 42/44 eyes (95.5%), stellate keratic precipitates in 41 eyes (93.2%), posterior subcapsular opacities or cataract in 19 eyes (43.2%), and heterochromia in 19 eyes (43.2%). Fuchs

  2. [Auditory synaptopathy/neuropathy: clinical findings and diagnosis].

    PubMed

    Walger, M; Foerst, A; Beutner, D; Streicher, B; Stürmer, K; Lang-Roth, R

    2011-05-01

    Auditory synaptopathy/neuropathy (AS/AN) is a special subtype of sensorineural hearing disorders with heterogeneous phenotypes and underestimated incidence. AS/AN generally develops in infancy, occasionally in adulthood. Symptoms include fluctuating, mostly bilateral hearing loss and abnormally reduced speech comprehension, especially in noisy environments. Within audiological assessments, patients with AS/AN present otoacoustic emissions (TEOAE; DPOAE) and cochlear microphonics (CM), absence of stapedius reflexes (SR) as well as absent or pathologically altered auditory evoked brainstem potentials (ABR). Children with AS/AN cannot be identified within OAE-based newborn hearing screening programs. Clinical findings, transtympanic electrocochleography (ECoG) and further diagnostic tools permit further identification of individual characteristics. In individual cases conventional amplification and the use of FM systems may improve hearing and communication skills. If these interventions, accompanied by intensive hearing, speech and language therapy are unsuccessful, cochlear implants (CI) or alternative forms of communication may be useful options for rehabilitation. PMID:21505928

  3. [Clinical findings in 50 cows with bovine spongiform encephalopathy (BSE)].

    PubMed

    Braun, U; Schicker, E; Pusterla, N; Schönmann, M

    1998-01-01

    The goal of this study was to describe the clinical findings in 50 cows with bovine spongiform encephalopathy (BSE). The most important abnormalities were disturbances in behaviour, sensitivity and locomotion. Of 48 cows with behavioural abnormalities, 33 were panic-stricken, 33 were fearful and 32 were restless and nervous. Other behavioural disturbances included bruxism (n = 23), salivation (n = 15), licking of the muzzle (n = 15) and flehmen (n = 8). Hypersensitivity to touching of the head and neck with a pen and reacted by throwing the head sideways, head shaking, curling the muzzle or flehmen and salivating. Hypersensitivity to sound was observed in 41 cows. Hypersensitivity to light was seen in 22 cows. disturbances in locomotion occurred in 44 cows. In 41, there was ataxia, which was generalized in 28 and restricted to the hindend in 13. PMID:9499623

  4. [Clinical forensic examination findings in assault cases among adolescents].

    PubMed

    Bode-Jänisch, Stefanie; Buddeke, Florian; Schulz, Yvonne; Fieguth, Armin

    2010-01-01

    Child and youth criminality has risen markedly over the past 25 years and causes increasing concern to the general public. The clinical forensic examination cases of youth violence victims examined at the Institute of Legal Medicine of the Hanover Medical School and its Oldenburg Branch between 1999 and 2008 were retrospectively analyzed. In all, 55 adolescents (37 females, 18 males; median age 15.5 years) were examined. In most cases the suspect was a close (40.0%) or passing (23.6%) acquaintance. 16 assaults were committed by two or more adolescents jointly. Most of the juveniles were victims of sexual assaults (56.4%). In 15 victims of sexual offences (51.7%) diagnostic findings were obtained on the basis of anogenital injuries and/or the presence of sperm. In summary, the analysis shows that adolescents frequently become victims of sexual assault. In addition, youth violence is often committed in a group. PMID:21254705

  5. Coronary Slow Flow Phenomenon Clinical Findings and Predictors

    PubMed Central

    Sanati, Hamidreza; Kiani, Reza; Shakerian, Farshad; Firouzi, Ata; Zahedmehr, Ali; Peighambari, Mohammadmehdi; Shokrian, Leila; Ashrafi, Peiman

    2016-01-01

    Background: In some patients with chest pain, selective coronary angiography reveals slow contrast agent passage through the epicardial coronary arteries in the absence of stenosis. This phenomenon has been designated the slow coronary flow (SCF) phenomenon. Objectives: In this study, we aimed to describe the demographic and clinical findings and presence of common atherosclerosis risk factors in patients with the SCF phenomenon. Patients and Methods: Between October 2014 and March 2015, demographic data, clinical histories, atherosclerosis risk factors, and laboratory and angiographic findings were recorded for all consecutive patients scheduled for coronary angiography and diagnosed with the SCF phenomenon, as well as a control group (patients with normal epicardial coronary arteries; NECA). SCF was diagnosed based on the thrombolysis in myocardial infarction frame count (TFC). A TFC > 27 indicated a diagnosis of SCF phenomenon. Results: Among the 3600 patients scheduled for selective coronary angiography, 75 (2%) met the SCF criteria. SCF and NECA patients did not exhibit statistically significant differences in traditional risk factors except for hypertension, which was more prevalent in SCF than NECA patients (52% versus 31%, P = 0.008). A multivariable analysis indicated a low body mass index, presence of hypertension, low high-density lipoprotein cholesterol (HDL-c) level, and high hemoglobin level as independent predictors of the SCF phenomenon; of these, hypertension was the strongest predictor (odds ratio = 6.3, 95% confidence interval: 2.2 - 17.9, P = 0.001). Conclusions: The SCF phenomenon is relatively frequent, particularly among patients with acute coronary syndrome who are scheduled for coronary angiography. Hypertension, a low HDL-c level, and high hemoglobin level can be considered independent predictors of this phenomenon. PMID:26889458

  6. Novel Findings into AIRE Genetics and Functioning: Clinical Implications.

    PubMed

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina

    2016-01-01

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE's function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications. PMID:27597936

  7. Radiological findings and the clinical importance of megacalycosis

    PubMed Central

    Kalaitzis, Christos; Patris, Emmanuel; Deligeorgiou, Evangelia; Sountoulides, Petros; Bantis, Athanasios; Giannakopoulos, Stilianos; Touloupidis, Stavros

    2015-01-01

    Objective To describe the radiological findings and the clinical importance of megacalycosis. Materials and methods On the basis of a case report and literature review, diagnostic criteria and clinical significance of megacalycosis are presented. Result Megacalycosis is mostly asymptomatic and is usually discovered either accidentally or as a result of its complications, such as stone formation, flank pain, hematuria, infection, and fever. The renal pelvis, infundibulum, and ureter are not dilated. Calyces have a semilunar configuration rather than the conventional triangular or conical form. The tip of each pyramid is flat, and the calyces possess neither fornix nor papillae impressions. The number of calyces is increased compared to the healthy condition, typically from 20–25. The renal parenchyma has a normal width but with a slight narrowing of the renal medulla. The kidney exhibits normal function, in particular with respect to its ability to concentrate the urine. Conclusion Megacalycosis is a rare, usually unilateral dilatation of the kidney calyces in the presence of a normal, undilated renal pelvis and ureter. Its pathological significance lies in the occurrence of complications. PMID:26528455

  8. Novel Findings into AIRE Genetics and Functioning: Clinical Implications

    PubMed Central

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina

    2016-01-01

    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE’s function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications. PMID:27597936

  9. Clinical findings in obligate carriers of type I Usher syndrome

    SciTech Connect

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R.

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  10. Classical hallucinogens as antidepressants? A review of pharmacodynamics and putative clinical roles

    PubMed Central

    Baumeister, David; Barnes, Georgina; Giaroli, Giovanni

    2014-01-01

    Hallucinogens have been part of spiritual practice for millennia, but controversy surrounding their mind-manifesting effects led to their proscription by the mid-20th century, largely without evidence of harm or toxicity and despite nascent data suggesting therapeutic utility in treating depressive illnesses. This review explores their pharmacodynamic actions and the current limited data on their clinic effectiveness. These drugs appear to exert their psychedelic effects through their agonist or partial agonist activity at the serotonergic 5-HT2A receptor, though they also have affinity for other metabotropic serotonin receptors. Hallucinogen binding affects a wide range of intracellular signalling pathways, the precise nature of which remains incompletely understood. They alter the serotonergic tone of brainstem raphe nuclei that project through the brain; they interact with receptors in the prefrontal cortex altering connectivity patterns and intracellular functioning; and they disrupt inhibitory control of sensory input via the thalamus to the cortex. The serotonergic system has long been implicated in anxiety and depressive disorders, and is a major target of most existing antidepressants. Classical hallucinogens alter the functioning of this system, but not in the same way current medications do: whilst there are identified receptors and neurotransmitter pathways through which hallucinogens could therein produce therapeutic effects, the neurobiology of this remains speculative at this time. There is currently an extremely limited but growing literature on hallucinogen safety and clinical application. The drugs appear well tolerated by healthy controls and clinical populations, and the rapid tolerance to repeated administration might reduce the possibility of dependency. Clinical trials reported over the past decade have generally shown positive therapeutic potential, but they are notably few in number. Legislative policy has had a freezing effect on evaluation

  11. Classical hallucinogens as antidepressants? A review of pharmacodynamics and putative clinical roles.

    PubMed

    Baumeister, David; Barnes, Georgina; Giaroli, Giovanni; Tracy, Derek

    2014-08-01

    Hallucinogens have been part of spiritual practice for millennia, but controversy surrounding their mind-manifesting effects led to their proscription by the mid-20th century, largely without evidence of harm or toxicity and despite nascent data suggesting therapeutic utility in treating depressive illnesses. This review explores their pharmacodynamic actions and the current limited data on their clinic effectiveness. These drugs appear to exert their psychedelic effects through their agonist or partial agonist activity at the serotonergic 5-HT2A receptor, though they also have affinity for other metabotropic serotonin receptors. Hallucinogen binding affects a wide range of intracellular signalling pathways, the precise nature of which remains incompletely understood. They alter the serotonergic tone of brainstem raphe nuclei that project through the brain; they interact with receptors in the prefrontal cortex altering connectivity patterns and intracellular functioning; and they disrupt inhibitory control of sensory input via the thalamus to the cortex. The serotonergic system has long been implicated in anxiety and depressive disorders, and is a major target of most existing antidepressants. Classical hallucinogens alter the functioning of this system, but not in the same way current medications do: whilst there are identified receptors and neurotransmitter pathways through which hallucinogens could therein produce therapeutic effects, the neurobiology of this remains speculative at this time. There is currently an extremely limited but growing literature on hallucinogen safety and clinical application. The drugs appear well tolerated by healthy controls and clinical populations, and the rapid tolerance to repeated administration might reduce the possibility of dependency. Clinical trials reported over the past decade have generally shown positive therapeutic potential, but they are notably few in number. Legislative policy has had a freezing effect on evaluation

  12. The High-Density Lipoprotein Puzzle: Why Classic Epidemiology, Genetic Epidemiology, and Clinical Trials Conflict?

    PubMed

    Rosenson, Robert S

    2016-05-01

    Classical epidemiology has established the incremental contribution of the high-density lipoprotein (HDL) cholesterol measure in the assessment of atherosclerotic cardiovascular disease risk; yet, genetic epidemiology does not support a causal relationship between HDL cholesterol and the future risk of myocardial infarction. Therapeutic interventions directed toward cholesterol loading of the HDL particle have been based on epidemiological studies that have established HDL cholesterol as a biomarker of atherosclerotic cardiovascular risk. However, therapeutic interventions such as niacin, cholesteryl ester transfer protein inhibitors increase HDL cholesterol in patients treated with statins, but have repeatedly failed to reduce cardiovascular events. Statin therapy interferes with ATP-binding cassette transporter-mediated macrophage cholesterol efflux via miR33 and thus may diminish certain HDL functional properties. Unraveling the HDL puzzle will require continued technical advances in the characterization and quantification of multiple HDL subclasses and their functional properties. Key mechanistic criteria for clinical outcomes trials with HDL-based therapies include formation of HDL subclasses that improve the efficiency of macrophage cholesterol efflux and compositional changes in the proteome and lipidome of the HDL particle that are associated with improved antioxidant and anti-inflammatory properties. These measures require validation in genetic studies and clinical trials of HDL-based therapies on the background of statins. PMID:26966281

  13. Clinical hypothermia temperatures increase complement activation and cell destruction via the classical pathway

    PubMed Central

    2014-01-01

    Background Therapeutic hypothermia is a treatment modality that is increasingly used to improve clinical neurological outcomes for ischemia-reperfusion injury-mediated diseases. Antibody-initiated classical complement pathway activation has been shown to contribute to ischemia-reperfusion injury in multiple disease processes. However, how therapeutic hypothermia affects complement activation is unknown. Our goal was to measure the independent effect of temperature on complement activation, and more specifically, examine the relationship between clinical hypothermia temperatures (31–33°C), and complement activation. Methods Antibody-sensitized erythrocytes were used to assay complement activation at temperatures ranging from 0-41°C. Individual complement pathway components were assayed by ELISA, Western blot, and quantitative dot blot. Peptide Inhibitor of complement C1 (PIC1) was used to specifically inhibit activation of C1. Results Antibody-initiated complement activation resulting in eukaryotic cell lysis was increased by 2-fold at 31°C compared with 37°C. Antibody-initiated complement activation in human serum increased as temperature decreased from 37°C until dramatically decreasing at 13°C. Quantitation of individual complement components showed significantly increased activation of C4, C3, and C5 at clinical hypothermia temperatures. In contrast, C1s activation by heat-aggregated IgG decreased at therapeutic hypothermia temperatures consistent with decreased enzymatic activity at lower temperatures. However, C1q binding to antibody-coated erythrocytes increased at lower temperatures, suggesting that increased classical complement pathway activation is mediated by increased C1 binding at therapeutic hypothermia temperatures. PIC1 inhibited hypothermia-enhanced complement-mediated cell lysis at 31°C by up to 60% (P = 0.001) in a dose dependent manner. Conclusions In summary, therapeutic hypothermia temperatures increased antibody

  14. Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease

    PubMed Central

    Razeen, Moataz M.; Cooper, Robert F.; Langlo, Christopher S.; Goldberg, Mara R.; Wilk, Melissa A.; Han, Dennis P.; Connor, Thomas B.; Fishman, Gerald A.; Collison, Frederick T.; Sulai, Yusufu N.; Dubra, Alfredo; Carroll, Joseph; Stepien, Kimberly E.

    2016-01-01

    Purpose To demonstrate a method for correlating photoreceptor mosaic structure with optical coherence tomography (OCT) and microperimetry findings in patients with Stargardt disease. Methods A total of 14 patients with clinically diagnosed Stargardt disease were imaged using confocal and split-detection adaptive optics scanning light ophthalmoscopy. Cone photoreceptors were identified manually in a band along the temporal meridian. Resulting values were compared to a normative database (n = 9) to generate cone density deviation (CDD) maps. Manual measurement of outer nuclear layer plus Henle fiber layer (ONL+HFL) thickness was performed, in addition to determination of the presence of ellipsoid zone (EZ) and interdigitation zone (IZ) bands on OCT. These results, along with microperimetry data, were overlaid with the CDD maps. Results Wide variation in foveal structure and CDD maps was seen within this small group. Disruption of ONL+HFL and/or IZ band was seen in all patients, with EZ band preservation in regions with low cone density in 38% of locations analyzed. Normality of retinal lamellar structure on OCT corresponded with cone density and visual function at 50/78 locations analyzed. Outer retinal tubulations containing photoreceptor-like structures were observed in 3 patients. Conclusions The use of CDD color-coded maps enables direct comparison of cone mosaic local density with other measures of retinal structure and function. Larger normative datasets and improved tools for automation of image alignment are needed. Translational Relevance The approach described facilitates comparison of complex multimodal data sets from patients with inherited retinal degeneration, and can be expanded to incorporate other structural imaging or functional testing. PMID:26981328

  15. Exome Sequencing and Unrelated Findings in the Context of Complex Disease Research: Ethical and Clinical Implications

    PubMed Central

    Lyon, Gholson J.; Jiang, Tao; Van Wijk, Richard; Wang, Wei; Bodily, Paul Mark; Xing, Jinchuan; Tian, Lifeng; Robison, Reid J.; Clement, Mark; Lin, Yang; Zhang, Peng; Liu, Ying; Moore, Barry; Glessner, Joseph T.; Elia, Josephine; Reimherr, Fred; van Solinge, Wouter W.; Yandell, Mark; Hakonarson, Hakon; Wang, Jun; Johnson, William Evan; Wei, Zhi; Wang, Kai

    2012-01-01

    Exome sequencing has identified the causes of several Mendelian diseases, although it has rarely been used in a clinical setting to diagnose the genetic cause of an idiopathic disorder in a single patient. We performed exome sequencing on a pedigree with several members affected with attention deficit/hyperactivity disorder (ADHD), in an effort to identify candidate variants predisposing to this complex disease. While we did identify some rare variants that might predispose to ADHD, we have not yet proven the causality for any of them. However, over the course of the study, one subject was discovered to have idiopathic hemolytic anemia (IHA), which was suspected to be genetic in origin. Analysis of this subject’s exome readily identified two rare non-synonymous mutations in PKLR gene as the most likely cause of the IHA, although these two mutations had not been documented before in a single individual. We further confirmed the deficiency by functional biochemical testing, consistent with a diagnosis of red blood cell pyruvate kinase deficiency. Our study implies that exome and genome sequencing will certainly reveal additional rare variation causative for even well-studied classical Mendelian diseases, while also revealing variants that might play a role in complex diseases. Furthermore, our study has clinical and ethical implications for exome and genome sequencing in a research setting; how to handle unrelated findings of clinical significance, in the context of originally planned complex disease research, remains a largely uncharted area for clinicians and researchers. PMID:21794208

  16. Gastrointestinal Diagnosis of Classical Whipple Disease: Clinical, Endoscopic, and Histopathologic Features in 191 Patients

    PubMed Central

    Günther, Ute; Moos, Verena; Offenmüller, Gabriel; Oelkers, Gerrit; Heise, Walther; Moter, Annette; Loddenkemper, Christoph; Schneider, Thomas

    2015-01-01

    Abstract Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular–biological examination is the most reliable diagnostic tool for CWD. PMID:25881849

  17. The Neuropathology of Huntington´s disease: classical findings, recent developments and correlation to functional neuroanatomy.

    PubMed

    Rüb, Udo; Vonsattel, Jean Paul V; Heinsen, Helmut; Korf, Horst-Werner

    2015-01-01

    Huntington’s disease (HD) is a severe, autosomal dominantly inherited, gradually worsening neurological disorder, the clinical features of which were first described in 1863 by Irving W. Lyon and with additional details, in 1872, by George Huntington. Progress in molecular biological research has shown that HD is caused by meiotically unstable CAG-repeats in the mutated HD gene (the so-called IT 15 gene) on chromosome 4p16.3, which encodes the mutated protein huntingtin (Htt). This monograph provides a survey of the stepwise progress in neuropathological HD research made during a time period of more than hundred years, the currently known neuropathological hallmarks of HD, as well as their pathogenic and clinical relevance. Starting with the initial descriptions of the progressive degeneration of the neostriatum (i.e., caudate nucleus and putamen) as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating qualitative and quantitative neuropathological data with characteristics pertaining to the functional neuroanatomy of the human brain, subsequent chapters will highlight the latest neuropathological HD findings: the area- and layer-specifi c neuronal loss in the cerebral neo- and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and the deep cerebellar nuclei, the involvement of distinct brainstem nuclei, and the pathophysiological relevance of these pathologies for the clinical phenotype of HD. Finally, the potential pathophysiological role of axonal transport deficit PMID:26767207

  18. Clinical and Para Clinical Findings in the Children with Tyrosinemia Referring for Liver Transplantation

    PubMed Central

    Dehghani, Seyed Mohsen; Haghighat, Mahmood; Imanieh, Mohammad Hadi; Karamnejad, Hossein; Malekpour, Abdorrasoul

    2013-01-01

    Background: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme. This disease manifests with severe liver and kidney impairment and is associated with an increased risk of liver cancer. The aim of this study was to evaluate clinical, laboratory, imaging, and histopathologic characteristics in the children with HT1 who had referred for liver transplantation. Methods: The present retrospective study was conducted on 45 children with HT1 who had referred to Organ Transplantation Center affiliated to Shiraz University of Medical Sciences between March 2005 and March 2010. Results: There were 64.4% boys and 35.6% girls with mean age of 3.75±1.28 year (ranges from 2 months to 13 years). The most first clinical presentation was hepatic (80%) and the most prevalent physical findings were hepatomegaly (57.8%), splenomegaly (51.1%), ascites (42.2%), and jaundice (37.9%). The most relevant laboratory parameters were the high serum succinylacetone, alpha-fetoprotein, and tyrosine levels. The most common findings in the patient's abdominal ultrasonography were multiple hepatic nodules (75.6%) and inhomogeneous parenchymal echogenicity of liver (48.9%), while hyper and hypo attenuated nodules (60%) and non-homogeneous pattern of liver parenchyma (53.3%) were the most prevalent findings in abdominal computed tomography scan. In the histopathology of the liver, the most important finding was cirrhosis in all the patients. In this study, 14 patients (31.1%) received Nitisinone (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyklohexanedione; NTBC). Conclusions: This study described clinical and laboratory findings in the children with HT1 who had referred for liver transplantation because of end-stage liver disease from all over country, which indicates delay in diagnosis and treatment of this disease. Considering the results of this study, newborn screening for this disease is highly

  19. [Clinical and MRI Findings in Patients with Congenital Anosmia].

    PubMed

    Ogawa, Takao; Kato, Tomohisa; Ono, Mayu; Shimizu, Takeshi

    2015-08-01

    The clinical characteristics of 16 patients with congenital anosmia were examined retrospectively. MRI (magnetic resonance imaging) was used to assess the morphological changes in the olfactory bulbs and olfactory sulci according to the method of P. Rombaux (2009). Congenital anosmia was divided into two forms: syndromic forms in association with a syndrome, and isolated forms without evidence of other defects. Only three patients (19%) in our series had syndromic forms of congenital anosmia, such as the Kallmann syndrome. Most cases (13 patients, 81%) had isolated congenital anosmia. Psychophysical testing of the olfactory function included T&T olfactometry and the intravenous Alinamin test, which are widely used in Japan. In T&T olfactometry, detection and recognition thresholds for the five odorants are used to assign a diagnostic category representing the level of olfactory function. Most cases (14 patients, 88%) showed off-scale results on T&T olfactometry, and the Alinamin test resulted in no response in all 11 patients who underwent the test. Abnormal MRI findings of the olfactory bulbs and sulci were detected in 15 of 16 patients (94%). Olfactory bulbs were bilaterally absent in nine patients (56%), and two patients (13%) had unilateral olfactory bulbs. Four patients (25%) had bilateral hypoplastic olfactory bulbs, and only one patient had normal olfactory bulbs (6%). The olfactory sulcus was unilaterally absent in one patient (6%), and nine patients (56%) had bilaterally hypoplastic olfactory sulci. Two patients (13%) had a unilateral normal olfactory sulcus and hypoplastic olfactory sulcus. Three patients (19%) had normal olfactory sulci. Quantitative analysis showed that the volume of olfactory bulbs varied from 0 mm3 to 63.5 mm3, with a mean volume of 10.20 ± 18 mm3, and the mean depth of the olfactory sulcus varied from 0 mm to 12.22 mm, with a mean length of 4.85 ± 4.1 mm. Currently, there is no effective treatment for congenital anosmia. However

  20. Comparing Clinicopathologic and Radiographic Findings Between TT-UMP, Classical, and Non-Encapsulated Follicular Variants of Papillary Thyroid Carcinomas.

    PubMed

    Baser, Husniye; Topaloglu, Oya; Tam, Abbas Ali; Alkan, Afra; Kilicarslan, Aydan; Ersoy, Reyhan; Cakir, Bekir

    2016-09-01

    Thyroid tumors of uncertain malignant potential (TT-UMP) comprise an accepted subgroup of follicular-patterned thyroid tumors for which benignancy or malignancy cannot be precisely assessed. We aimed to evaluate the demographic characteristics, ultrasound (US) findings, and cytological results of patients with TT-UMP and compare these findings to a classical variant of papillary thyroid carcinoma (CV-PTC) and non-encapsulated follicular variant of PTC (NEFV-PTC) patients; we also evaluated the immunohistochemical characteristics of patients with TT-UMP. Twenty-four patients with TT-UMP, 672 with CV-PTC, and 132 with NEFV-PTC were included in the study. Mean longitudinal nodule size and median nodule volume were higher in the TT-UMP group than in the CV-PTC and NEFV-PTC groups (p < 0.001 and p < 0.001 for CV-PTC; p < 0.001 and p = 0.008 for NEFV-PTC). The presence of halo and peripheral vascularization was observed more frequently in the TT-UMP group than in the CV-PTC group (p = 0.002 and p = 0.024). Benign and follicular neoplasm/suspicious for follicular neoplasm cytological results were higher in the TT-UMP group than in the CV-PTC group (p = 0.030 and p = 0.001). US findings were similar between TT-UMP and NEFV-PTC groups (all, p > 0.05). However, none of the patients with TT-UMP were called malignant; 105 patients (31.2 %) of CV-PTC and 11 patients (9.5 %) of NEFV-PTC (infiltrative FV) were classified as malignant cytologically. Tumor size was higher in the TT-UMP group than in the CV-PTC and NEFV-PTC groups (p < 0.001 and p = 0.006). In the TT-UMP group, positive expression of HBME-1, CK-19, and Gal-3 was found in 50, 33.3, and 25 % of patients, respectively. This study demonstrated that none of the TT-UMP patients were evaluated as malignant in preoperative cytology. However, patients with TT-UMP had higher nodule and tumor sizes than CV-PTC and NEFV-PTC patients; US features were similar between NEFV-PTC and TT

  1. Clinical and arthroscopic findings in recreationally active patients

    PubMed Central

    2010-01-01

    Objective To examine the diagnostic accuracy of standard clinical tests for the shoulder in recreational athletes with activity related pain. Design Cohort study with index test of clinical examination and reference standard of arthroscopy. Setting Sports Medicine clinic in Sheffield, U.K. Participants 101 recreational athletes (82 male, 19 female; mean age 40.8 ± 14.6 years) over a six year period. Interventions Bilateral evaluation of movements of the shoulder followed by standardized shoulder tests, formulation of clinical diagnosis and shoulder arthroscopy conducted by the same surgeon. Main Outcome Measurements Sensitivity, specificity, likelihood ratio for a positive test and over-all accuracy of clinical examination was examined retrospectively and compared with arthroscopy. Results Isolated pathology was rare, most patients (72%) having more than one injury recorded. O'Brien's clinical test had a mediocre sensitivity (64%) and over-all accuracy (54%) for diagnosing SLAP lesions. Hawkins test and Jobe's test had the highest but still not impressive over-all accuracy (67%) and sensitivity (67%) for rotator cuff pathology respectively. External and internal impingement tests showed similar levels of accuracy. When a positive test was observed in one of a combination of shoulder tests used for diagnosing SLAP lesions or rotator cuff disease, sensitivity increased substantially whilst specificity decreased. Conclusions The diagnostic accuracy of isolated standard shoulder tests in recreational athletes was over-all very poor, potentially due to the majority of athletes (71%) having concomitant shoulder injuries. Most likely, this means that many of these injuries are missed in general practice and treatment is therefore delayed. Clinical examination of the shoulder should involve a combination of clinical tests in order to identify likely intra articular pathology which may warrant referral to specialist for surgery. PMID:20157421

  2. Peptide inhibitor of complement c1, a novel suppressor of classical pathway activation: mechanistic studies and clinical potential.

    PubMed

    Sharp, Julia A; Whitley, Pamela H; Cunnion, Kenji M; Krishna, Neel K

    2014-01-01

    The classical pathway of complement plays multiple physiological roles including modulating immunological effectors initiated by adaptive immune responses and an essential homeostatic role in the clearance of damaged self-antigens. However, dysregulated classical pathway activation is associated with antibody-initiated, inflammatory diseases processes like cold agglutinin disease, acute intravascular hemolytic transfusion reaction (AIHTR), and acute/hyperacute transplantation rejection. To date, only one putative classical pathway inhibitor, C1 esterase inhibitor (C1-INH), is currently commercially available and its only approved indication is for replacement treatment in hereditary angioedema, which is predominantly a kinin pathway disease. Given the variety of disease conditions in which the classical pathway is implicated, development of therapeutics that specifically inhibits complement initiation represents a major unmet medical need. Our laboratory has identified a peptide that specifically inhibits the classical and lectin pathways of complement. In vitro studies have demonstrated that these peptide inhibitors of complement C1 (PIC1) bind to the collagen-like region of the initiator molecule of the classical pathway, C1q. PIC1 binding to C1q blocks activation of the associated serine proteases (C1s-C1r-C1r-C1s) and subsequent downstream complement activation. Rational design optimization of PIC1 has resulted in the generation of a highly potent derivative of 15 amino acids. PIC1 inhibits classical pathway mediated complement activation in ABO incompatibility in vitro and inhibiting classical pathway activation in vivo in rats. This review will focus on the pre-clinical development of PIC1 and discuss its potential as a therapeutic in antibody-mediated classical pathway disease, specifically AIHTR. PMID:25202312

  3. Peptide Inhibitor of Complement C1, a Novel Suppressor of Classical Pathway Activation: Mechanistic Studies and Clinical Potential

    PubMed Central

    Sharp, Julia A.; Whitley, Pamela H.; Cunnion, Kenji M.; Krishna, Neel K.

    2014-01-01

    The classical pathway of complement plays multiple physiological roles including modulating immunological effectors initiated by adaptive immune responses and an essential homeostatic role in the clearance of damaged self-antigens. However, dysregulated classical pathway activation is associated with antibody-initiated, inflammatory diseases processes like cold agglutinin disease, acute intravascular hemolytic transfusion reaction (AIHTR), and acute/hyperacute transplantation rejection. To date, only one putative classical pathway inhibitor, C1 esterase inhibitor (C1-INH), is currently commercially available and its only approved indication is for replacement treatment in hereditary angioedema, which is predominantly a kinin pathway disease. Given the variety of disease conditions in which the classical pathway is implicated, development of therapeutics that specifically inhibits complement initiation represents a major unmet medical need. Our laboratory has identified a peptide that specifically inhibits the classical and lectin pathways of complement. In vitro studies have demonstrated that these peptide inhibitors of complement C1 (PIC1) bind to the collagen-like region of the initiator molecule of the classical pathway, C1q. PIC1 binding to C1q blocks activation of the associated serine proteases (C1s–C1r–C1r–C1s) and subsequent downstream complement activation. Rational design optimization of PIC1 has resulted in the generation of a highly potent derivative of 15 amino acids. PIC1 inhibits classical pathway mediated complement activation in ABO incompatibility in vitro and inhibiting classical pathway activation in vivo in rats. This review will focus on the pre-clinical development of PIC1 and discuss its potential as a therapeutic in antibody-mediated classical pathway disease, specifically AIHTR. PMID:25202312

  4. Clinical presentation and magnetic resonance findings in sellar tuberculomas.

    PubMed

    Bonifacio-Delgadillo, Dulce; Aburto-Murrieta, Yolanda; Salinas-Lara, Citlaltepetl; Sotelo, Julio; Montes-Mojarro, Ivonne; Garcia-Marquez, Arturo

    2014-01-01

    Background and Importance. Sellar tuberculomas are extremely rare lesions with nonspecific clinical manifestations. The tuberculous infection of the pituitary gland and sellar region is characterized by the presence of an acute or chronic inflammatory reaction and may occur in the absence of systemic tuberculosis. The diagnosis is difficult prior to the surgery. An adequate diagnostic and antituberculous drugs usually result in a good outcome. Clinical Presentation. We report four cases of sellar tuberculoma, 3/1 female/male, age range: 50-57 years. All patients had visual disturbances and low levels of cortisol. Conclusion. The clinical diagnosis of sellar tuberculoma is a challenge and should be suspected when a sellar lesion shows abnormal enhancement pattern and stalk involvement, and absence of signal suppression in FLAIR. PMID:25114688

  5. Spectrum of MRI findings in clinical athletic pubalgia.

    PubMed

    Zajick, Donald C; Zoga, Adam C; Omar, Imran M; Meyers, William C

    2008-03-01

    Athletic pubalgia is a frequently encountered syndrome for clinicians who treat active patients participating in a wide variety of athletic endeavors worldwide. Pathologies associated with this clinical scenario span anatomically from the pubic symphysis to the hip and include a myriad of poorly understood and incompletely described musculoskeletal entities, many of which are centered about the pubic symphysis and its tendinous attachments. In this article, we discuss the relevant anatomy and pathophysiology for the most frequently encountered of these disorders, using magnetic resonance (MR) images as a guide. We describe an MR imaging protocol tailored to clinical athletic pubalgia. We then review reproducible MRI patterns of pathology about the pubic symphysis, the rectus abdominis/adductor aponeurosis and the inguinal ring, as well as a group of clinically confounding entities remote from the symphysis but visible by MRI. PMID:18382940

  6. Presumed Perinatal Stroke: Risk Factors, Clinical and Radiological Findings.

    PubMed

    Ilves, Pilvi; Laugesaar, Rael; Loorits, Dagmar; Kolk, Anneli; Tomberg, Tiiu; Lõo, Silva; Talvik, Inga; Kahre, Tiina; Talvik, Tiina

    2016-04-01

    It is unknown why some infants with perinatal stroke present clinical symptoms late during infancy and will be identified as infants with presumed perinatal stroke. The risk factors and clinical and radiological data of 42 infants with presumed perinatal stroke (69% with periventricular venous infarction and 31% with arterial ischemic stroke) from the Estonian Pediatric Stroke Database were reviewed. Children with presumed perinatal stroke were born at term in 95% of the cases and had had no risk factors during pregnancy in 43% of the cases. Children with periventricular venous infarction were born significantly more often (82%) vaginally (P = .0213) compared to children with arterial stroke (42%); nor did they require resuscitation (P = .0212) or had any neurological symptoms after birth (P = .0249). Periventricular venous infarction is the most common type of lesion among infants with the presumed perinatal stroke. Data suggest that the disease is of prenatal origin. PMID:26446909

  7. Clinical and MRI findings in spinocerebellar ataxia type 5.

    PubMed

    Stevanin, G; Herman, A; Brice, A; Dürr, A

    1999-10-12

    Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of President Abraham Lincoln. We report a second, apparently unrelated, SCA5 family of French origin. The overall clinical picture was a slowly progressive cerebellar syndrome beginning mostly in the third decade (27+/-10 years, range 14 to 40). MRI showed a marked global cerebellar atrophy similar to SCA6. PMID:10522902

  8. Wound botulism: clinical and microbiological findings of an Italian case.

    PubMed

    Aureli, P; Fenicia, L; Ferrini, A M; Martini, M; Beccia, G

    1992-09-01

    A case of wound botulism in a 41-year old man is reported. The patient had accidently been wounded when he fell on an iron bar. Some days later he developed typical clinical manifestations of botulism. Wound botulism was confirmed by detection and quantification of type B botulinal toxin in the serum. Ventilatory supportive care was necessary and botulinal antitoxin was not given. The patient was hospitalized for 30 days and recovery was complete. PMID:1426179

  9. Prospective randomized study comparing clinical, functional, and aesthetic results of minipterional and classic pterional craniotomies.

    PubMed

    Welling, Leonardo C; Figueiredo, Eberval G; Wen, Hung T; Gomes, Marcos Q T; Bor-Seng-Shu, Edson; Casarolli, Cesar; Guirado, Vinicius M P; Teixeira, Manoel Jacobsen

    2015-05-01

    OBJECT The object of this study was to compare the clinical, functional, and aesthetic results of 2 surgical techniques, pterional (PT) and minipterional (MPT) craniotomies, for microsurgical clipping of anterior circulation aneurysms. METHODS Fifty-eight patients with ruptured and unruptured anterior circulation aneurysms were enrolled into a prospective randomized study. The first group included 28 patients who underwent the MPT technique, and the second group comprised 30 patients who underwent the classic PT craniotomy. To evaluate the aesthetic effects, patients were asked to grade on a rule from 0 to 100 the best and the worst aesthetic result. Photographs were also taken, assessed by 2 independent observers, and classified as showing excellent, good, regular, or poor aesthetic results. Furthermore, quantitative radiological assessment (percentage reduction in thickness and volumetric analysis) of the temporal muscle, subcutaneous tissue, and skin was performed. Functional outcomes were compared using the modified Rankin Scale (mRS). Frontal facial palsy, postoperative hemorrhage, cerebrospinal fistula, hydrocephalus, and mortality were also analyzed. RESULTS Demographic and preoperative characteristics were similar in both groups. Satisfaction in terms of aesthetic result was observed in 19 patients (79%) in the MPT group and 13 (52%) in the PT group (p = 0.07). The mean score on the aesthetic rule was 27 in the MPT group and 45.8 in the PT group (p = 0.03). Two independent observers analyzed the patient photos, and the kappa coefficient for the aesthetic results was 0.73. According to these observers, excellent and good results were seen in 21 patients (87%) in the MPT and 12 (48%) in the PT groups. The degree of temporal muscle, subcutaneous tissue, and skin atrophy was 14.9% in the MPT group and 24.3% in the PT group (p = 0.01). Measurements of the temporal muscle revealed 12.7% atrophy in the MPT group and 22% atrophy in the PT group (p = 0.005). The

  10. Radiographic findings in patients with clinical Tietze syndrome.

    PubMed

    Jurik, A G; Justesen, T; Graudal, H

    1987-01-01

    Thirteen patients with similar painful tender swelling in the region of the sternocostal joint (SCJ) are reported. X-ray tomography revealed changes which might explain the swelling in 11 patients. Three patients had anatomical variants of the sternum. One of these and a further two patients had marginal osteophytes at the affected SCJ, as signs of osteoarthrosis. Six patients with psoriasis, pustulosis palmoplantaris, or psoriasis in the family had past or present arthritis of the involved SCJ or the manubriosternal joint. Tomography was found to be a useful confirmatory examination in patients with clinical Tietze syndrome. PMID:3423820

  11. The antibody response to methyl isocyanate: experimental and clinical findings.

    PubMed

    Karol, M H; Kamat, S R

    1987-01-01

    Sera from 99 subjects exposed to the industrial gas leak in Bhopal on December 2, 1984 were studied along with sera from guinea pigs exposed to methyl isocyanate (MIC) to determine the production of antibodies specific to (MIC). Each of the four guinea pigs injected with the reactive isocyanate produced MIC-specific antibodies in titres of 1:5120 to 1:10240, when tested with MIC-guinea pig albumin antigen conjugate. Analogous antigens prepared by reaction of MIC with human serum albumin were used to probe production of antibodies in 264 serially obtained human sera from 99 subjects from Bhopal. MIC-specific antibodies belonging to IgG, IgM and IgE classes were detected in eleven subjects. Though titres were low and transient (declining after several months) these findings indicate that the single large exposure to MIC resulted in an immunologic response. This finding was concomitant with chronic respiratory effects following MIC exposure. PMID:3453753

  12. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    PubMed

    Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton-Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angus; Barnicoat, Angela; Wallis, Colin; Hewitson, Rebecca; Offiah, Amaka; Saunders, Michael; Langton-Hewer, Simon; Hilliard, Tom; Davis, Peter; Smithson, Sarah

    2016-05-01

    Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development. © 2016 Wiley Periodicals, Inc. PMID:26971886

  13. Marrow Fat and Bone: Review of Clinical Findings

    PubMed Central

    Schwartz, Ann V.

    2015-01-01

    With growing interest in the connection between fat and bone, there has been increased investigation of the relationship with marrow fat in particular. Clinical research has been facilitated by the development of non-invasive methods to measure bone marrow fat content and composition. Studies in different populations using different measurement techniques have established that higher marrow fat is associated with lower bone density and prevalent vertebral fracture. The degree of unsaturation in marrow fat may also affect bone health. Although other fat depots tend to be strongly correlated, marrow fat has a distinct pattern, suggesting separate mechanisms of control. Longitudinal studies are limited, but are crucial to understand the direct and indirect roles of marrow fat as an influence on skeletal health. With greater appreciation of the links between bone and energy metabolism, there has been growing interest in understanding the relationship between marrow fat and bone. It is well established that levels of marrow fat are higher in older adults with osteoporosis, defined by either low bone density or vertebral fracture. However, the reasons for and implications of this association are not clear. This review focuses on clinical studies of marrow fat and its relationship to bone. PMID:25870585

  14. [Familial cerebellar ataxia: clinical, radiological and electrophysiological findings].

    PubMed

    Gajkowski, K; Rysz, A; Walecki, J; Bojakowski, J

    1988-01-01

    A family with cerebellar ataxia of late onset occurring in four generations was observed. Neurological abnormalities included signs of cerebellar ataxia, pyramidal tract damage and damage to the peripheral motor neuron. Computerized tomography demonstrated in five out of six studied patients an image suggesting olivo-ponto-cerebellar atrophy. In the cerebellar structures, brainstem and cerebral hemispheres evidence of atrophy was detected. No correlation was demonstrated between the intensity of the clinical signs and the progression of changes in CT image. Electrophysiological investigations demonstrated changes compatible with damage to the motor and sensory fibres in the peripheral nerves and signs suggesting damage to the spinal motor neurons and pyramidal tract. These observations confirm the multilevel development of the process. The use of similar diagnostic methods will permit a more accurate classification of cerebellar ataxia and obtaining of better information for prognostication of individual cases. PMID:3164096

  15. Lupus enteritis: from clinical findings to therapeutic management

    PubMed Central

    2013-01-01

    Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who were referred to French tertiary care centers and perform a systematic literature review of SLE cases fulfilling the revised ACR criteria, with evidence for small bowel involvement, excluding those with infectious enteritis. We describe the characteristics of 143 previously published and 7 new cases. Clinical symptoms mostly included abdominal pain (97%), vomiting (42%), diarrhea (32%) and fever (20%). Laboratory features mostly reflected lupus activity: low complement levels (88%), anemia (52%), leukocytopenia or lymphocytopenia (40%) and thrombocytopenia (21%). Median CRP level was 2.0 mg/dL (range 0–8.2 mg/dL). Proteinuria was present in 47% of cases. Imaging studies revealed bowel wall edema (95%), ascites (78%), the characteristic target sign (71%), mesenteric abnormalities (71%) and bowel dilatation (24%). Only 9 patients (6%) had histologically confirmed vasculitis. All patients received corticosteroids as a first-line therapy, with additional immunosuppressants administered either from the initial episode or only in case of relapse (recurrence rate: 25%). Seven percent developed intestinal necrosis or perforation, yielding a mortality rate of 2.7%. Altogether, lupus enteritis is a poorly known cause of abdominal pain in SLE patients, with distinct clinical and therapeutic features. The disease may evolve to intestinal necrosis and perforation if untreated. Adding with this an excellent steroid responsiveness, timely diagnosis becomes primordial for the adequate management of this rare entity. PMID:23642042

  16. Chronic post-traumatic headache: clinical findings and possible mechanisms.

    PubMed

    Defrin, Ruth

    2014-02-01

    Chronic post-traumatic headache (CPTHA), the most frequent complaint after traumatic brain injury (TBI), dramatically affects quality of life and function. Despite its high prevalence and persistence, the mechanism of CPTHA is poorly understood. This literature review aimed to analyze the results of studies assessing the characteristics and sensory profile of CPTHA in order to shed light on its possible underlying mechanisms. The search for English language articles published between 1960 and 2013 was conducted in MEDLINE, CINAHL, and PubMed. Studies assessing clinical features of headache after TBI as well as studies conducting quantitative somatosensory testing (QST) in individuals with CPTHA and in individuals suffering from other types of pain were included. Studies on animal models of pain following damage to peripheral tissues and to the peripheral and central nervous system were also included. The clinical features of CPTHA resembled those of primary headache, especially tension-type and migraine headache. Positive and negative signs were prevalent among individuals with CPTHA, in both the head and in other body regions, suggesting the presence of local (cranial) mechanical hypersensitivity, together with generalized thermal hypoesthesia and hypoalgesia. Evidence of dysfunctional pain modulation was also observed. Chronic post-traumatic headache can result from damage to intra- and pericranial tissues that caused chronic sensitization of these tissues. Alternatively, although not mutually exclusive, CPTHA might possibly be a form of central pain due to damage to brain structures involved in pain processing. These, other possibilities, as well as risk factors for CPTHA are discussed at length. PMID:24976746

  17. The clinical significance of classical and new emerging determinants of adenomyosis

    PubMed Central

    Bodur, Serkan; Dundar, Ozgur; Pektas, Mine Kanat; Babayigit, Mustafa Alparslan; Ozden, Okan; Kucukodacı, Zafer

    2015-01-01

    Objective: The present study aims to analyze the diagnostic accuracy of clinical characteristics together with new emerging laboratory markers of adenomyosis. Methods: This study was a retrospective analysis of clinical and laboratory characteristics of 99 women who underwent hysterectomies with (study group) or without (control group) a diagnosis of adenomyosis, 56 and 43 patients in each group, respectively. Results: The women with adenomyosis were more likely to have younger age (OR = 1.14, 0.789-0.971 95% CI, P = 0.010), higher parity (OR = 1.81, 0.308-0.988 95% CI, P = 0.046), higher number of curettage (OR = 1.90, 1.189-3.041 95% CI, P = 0.007), dysmenorrhea (OR = 117.49, 2.715-5084.883 95% CI, P = 0.013) and elevated mean platelet volume (OR = 5.17, 2.054-13.028 95% CI, P = 0.000). After receiver-operating-characteristics curve analysis, using a cut-point of 8.5 fL, the preoperative mean platelet volume predicted adenomyosis with a sensitivity of 56.6% and specificity of 82.6%. Conclusions: Those findings suggest gynecologists to give priority on adenomyosis when premenopausal paraous patient with a history of curettages admitted with a complaint of dysmenorrhea and elevated levels of MPV. PMID:26221354

  18. In situ mantle cell lymphoma: clinical implications of an incidental finding with indolent clinical behavior

    PubMed Central

    Carvajal-Cuenca, Alejandra; Sua, Luz F.; Silva, Nhora M.; Pittaluga, Stefania; Royo, Cristina; Song, Joo Y.; Sargent, Rachel L.; Espinet, Blanca; Climent, Fina; Jacobs, Samuel A.; Delabie, Jan; Naresh, Kikkeri N.; Bagg, Adam; Brousset, Pierre; Warnke, Roger A.; Serrano, Sergi; Lee Harris, Nancy; Swerdlow, Steven H.; Jaffe, Elaine S.; Campo, Elías

    2012-01-01

    Background Cyclin D1-positive B cells are occasionally found in the mantle zones of reactive lymphoid follicles, a condition that has been called “in situ mantle cell lymphoma”. The clinical significance of this lesion remains uncertain. Design and Methods The clinical and pathological characteristics, including SOX11 expression, of 23 cases initially diagnosed as in situ mantle cell lymphoma were studied. Results Seventeen of the 23 cases fulfilled the criteria for in situ mantle cell lymphoma. In most cases, the lesions were incidental findings in reactive lymph nodes. The t(11;14) was detected in all eight cases examined. SOX11 was positive in seven of 16 cases (44%). Five cases were associated with other small B-cell lymphomas. In two cases, both SOX11-positive, the in situ mantle cell lymphoma lesions were discovered after the diagnosis of overt lymphoma; one 4 years earlier, and one 3 years later. Twelve of the remaining 15 patients had a follow-up of at least 1 year (median 2 years; range, 1–19.5), of whom 11 showed no evidence of progression, including seven who were not treated. Only one of 12 patients with an in situ mantle cell lymphoma lesion and no diagnosis of mantle cell lymphoma at the time developed an overt lymphoma, 4 years later; this case was also SOX11-positive. The six remaining cases were diagnosed as mantle cell lymphoma with a mantle zone pattern. Five were SOX11-positive and four of them were associated with lymphoma without a mantle zone pattern. Conclusions In situ mantle cell lymphoma lesions are usually an incidental finding with a very indolent behavior. These cases must be distinguished from mantle cell lymphoma with a mantle zone pattern and overt mantle cell lymphoma because they may not require therapeutic intervention. PMID:22058203

  19. Clinical management of incidental findings on pelvic adnexal masses.

    PubMed

    Dias, Daniel Spadoto; Bueloni-Dias, Flávia Neves; Delmanto, Armando; Tonon, Ângela Favorito Santarém; Tayfour, Najla Mohamad; Traiman, Paulo; Dias, Rogério

    2015-01-01

    Due to widespread use of pelvic and transvaginal ultrasound in routine gynecological evaluation, the incidental finding of adnexal masses has led to discussions about management in asymptomatic patients regarding the risk of ovarian cancer. Transvaginal ultrasonography remains the modality of choice in the evaluation of suspicious characteristics. The combined analysis of ultrasound morphological parameters with Doppler study, serum carcinoma antigen 125 and investigation of a symptom index may improve diagnosis. Surgical approach should be considered whenever there are suspicious images, rapid growth of cysts, changes in the appearance compared to the initial evaluation or when the patient has symptoms. Future studies on genetic and molecular mechanisms may help explain the pathophysiology of ovarian cancer, improving early diagnosis and treatment. PMID:26603011

  20. Clinical and electrographic findings in epileptic vertigo and dizziness

    PubMed Central

    Lee, Seung-Han; Robinson, Karen A.; Kaplan, Peter W.; Newman-Toker, David E.

    2015-01-01

    Objective: Seizures can cause vestibular symptoms, even without obvious epileptic features. We sought to characterize epileptic vertigo or dizziness (EVD) to improve differentiation from nonepileptic causes, particularly when vestibular symptoms are the sole manifestation. Methods: We conducted a systematic review with electronic (Medline) and manual search for English-language studies (1955–2014). Two independent reviewers selected studies. Study/patient characteristics were abstracted. We defined 3 study population types: (1) seizures, some experiencing vertigo/dizziness (disease cohort); (2) vertigo/dizziness, some due to seizures (symptom cohort); (3) vertigo/dizziness due to seizures in all patients (EVD-only cohort). Results: We identified 84 studies describing 11,354 patients (disease cohort = 8,129; symptom cohort = 2,965; EVD-only cohort = 260). Among 1,055 EVD patients in whom a distinction could be made, non-isolated EVD was present in 8.5%, isolated EVD in 0.8%. Thorough diagnostic workups (ictal EEG, vestibular testing, and brain MRI to exclude other causes) were rare (<0.1%). Ictal EEG was reported in 487 (4.3%), formal neuro-otologic assessment in 1,107 (9.7%). Localized EEG abnormalities (n = 350) were most frequently temporal (79.8%) and uncommonly parietal (11.8%). Duration of episodic vestibular symptoms varied, but was very brief (<30 seconds) in 69.6% of isolated EVD and 6.9% of non-isolated EVD. Conclusions: Non-isolated EVD is much more prevalent than isolated EVD, which appears to be rare. Diagnostic evaluations for EVD are often incomplete. EVD is primarily associated with temporal lobe seizures; whether this reflects greater epidemiologic prevalence of temporal lobe seizures or a tighter association with dizziness/vertigo presentations than with other brain regions remains unknown. Consistent with clinical wisdom, isolated EVD spells often last just seconds, although many patients experience longer spells. PMID:25795644

  1. Splenic abscess: clinical features, microbiologic finding, treatment and outcome.

    PubMed

    Sangchan, Apichat; Mootsikapun, Piroon; Mairiang, Pisaln

    2003-05-01

    Splenic abscess is a rare clinical entity but may be underreported. A retrospective study at Srinagarind Hospital revealed 60 cases of splenic abscess between 1992 and 2001. The causative organisms were identified in 41 cases (68.3%). Gram negative bacilli were commonly isolated and Burkholderia pseudomallei was the most predominant. Diabetes mellitus and leukemia were common underlying diseases found in 46.3 per cent and 9.7 per cent of culture confirmed cases, respectively. The patients usually presented with fever, left upper quadrant pain, tenderness and splenomegaly. Multiple abscesses were more commonly found in the melioidosis than in the non-melioidosis group (p = 0.032), but a single abscess was more commonly found in the non-melioidosis than in the melioidosis group (p = 0.032). Concurrent liver abscesses, often multiple, were not different in both groups. Antimicrobials alone were given in 66.7 per cent of cases with melioidosis and 64.7 per cent of non-melioidosis group. Splenectomy and percutaneous aspiration were performed only in 29.3 per cent and 4.9 per cent of cases with splenic abscess. The overall mortality rate of splenic abscess was only 4.9 per cent in the present series. In conclusion, splenic abscess is not uncommon. Burkholderia pseudomalleli is the most common causative agent found in the present series. Therefore, it should be targeted in the initial empirical antibiotic therapy before the culture results are available especially when multiple lesions in the spleen and concurrent multiple liver abscesses are seen. Prolonged treatment with appropriate antimicrobials alone is usually effective. Splenectomy and/or aspiration may be useful in selected patients. PMID:12859100

  2. Spontaneous vertebral dissection: Clinical, conventional angiographic, CT, and MR findings

    SciTech Connect

    Provenzale, J.M.; Morgenlander, J.C.; Gress, D.

    1996-03-01

    The purpose of this study was to determine if typical clinical and neuroradiologic patterns exist in patients with spontaneous vertebral artery (VA) dissection. The medical records and neuroradiologic examinations of 14 patients with spontaneous VA dissection were reviewed. The medical records were examined to exclude patients with a history of trauma and to record evidence of a nontratimatic precipitating event ({open_quotes}trivial trauma{close_quotes}) and presence of possible risk factors such as hypertension. All patients under-went conventional angiography, 13 either CT or MRI (II both CT and MRI), and 3 MRA. Conventional arteriograrris were evaluated for dissection site, evidence of fibromuscular dysplasia, luminal stenosis or occlusion, and pseudoaneurysm formation, CT examinations for the presence of infarction or subarachnoid hemorrhage, MR examinations for the presence of infarction or arterial signal abnormality, and MR angiograms for abnormality of the arterial signal column. Seven patients had precipitating events within 24 h of onset of symptoms that may have been causative of dissection and five had hypertension. At catheter angiography, two patients had dissections in two arteries (both VAs in one patient, VA and internal carotid artery in one patient), giving a total of 15 VAs with dissection. Dissection sites included V1 in four patients, V2 in one patient, V3 in three patients, V4 in six patients, and both V3 and V4 in one patient. Luminal stenosis was present in 13 VAs, occlusion in 2, pseudoaneurysm in 1, and evidence of fibromuscular dysplasia in 1. Posterior circulation infarcts were found on CT or MR in five patients. Subarachnoid hemorrhage was found on CT in two patients and by lumbar puncture alone in two patients. Abnormal periarterial signal on MRI was seen in three patients. MRA demonstrated absent VA signal in one patient, pseudoaneurysm in one, and a false-negative examination in one.

  3. Impulsivity: a discussion of clinical and experimental findings.

    PubMed

    Evenden, J

    1999-01-01

    Impulsivity can often be an important clinical problem in psychiatry and neurology. In psychiatry, the manifestation of impulsive behaviour in syndromes such as personality disorders, attention deficit hyperactivity disorder and in substance abuse may be different, and this has led to conflicting definitions. There has also been a tendency to concentrate on the nature of the behavioural manifestation (problems with the law, aggression, drug use, behavioural problems in school) rather than shared psychological processes, and to ignore the fact that impulsivity can also have positive aspects. In a normal population, the personality trait of impulsivity has been analysed using personality inventory questionnaires. Analysis of these data lead to the suggestion that impulsivity as commonly defined and understood may be made up of several independent factors, which may have separate biological bases. These self-rating questionnaires have been complemented by objective tests that are now often computerized, and which have been used in man (e.g. with criminal offenders, children, or patients who have undergone brain surgery). Some of these tests, such as the differential reinforcement of low rates procedure or the delay of reinforcement procedure, have also been used to study impulsivity in animals. Analysis of the behavioural principles of these tests suggests that they too may reflect different aspects of impulsivity. Many different biological systems have been proposed to contribute to the neurobiological basis of impulsivity. The serotonergic neurotransmitter system has recently received the most attention, with evidence of its involvement coming from animal studies as well as from studies in psychiatric patients. The frontal lobes have been proposed to play an important role in regulating impulsivity, although it unclear how specific this is. None of this biological knowledge has yet led to reliable pharmacotherapy for excessive impulsivity and, as yet, there is

  4. Mood regulation in youth: research findings and clinical approaches to irritability and short-lived episodes of mania like symptoms

    PubMed Central

    Leigh, Eleanor; Smith, Patrick; Milavic, Gordana; Stringaris, Argyris

    2013-01-01

    Purpose of review Mood regulation problems, such as severe chronic irritability or short episodes of mania like symptoms are common, impairing and a topic of intense recent interest to clinicians, researchers and the DSM-5 process. Here we review the most recent findings about these two presentations and discuss approaches to their treatment. Recent findings Longitudinal and genetic findings suggest that chronic irritability should be regarded as a mood problem that is distinct from bipolar disorder. A proportion of children with short (less than 4 days) episodes of mania like symptoms seem to progress to classical (Type I or II) bipolar disorder over time in US clinic samples. In a UK sample, such episodes were independently associated with psychosocial impairment. The evidence base for the treatment of either irritability or short-lived episodes to mania-like symptoms is still small. Clinicians should be cautious with extrapolating treatments from classical bipolar disorder to these mood regulation problems. CBT-based approaches targeting general mood regulation processes may be effective for cases with severe irritability or short episodes of mania like symptoms. Summary There is increasing research evidence for the importance of mood regulation problems in the form of either irritability or short episodes of mania like symptoms in youth. The evidence base for their drug treatment has yet to be developed. CBT-based interventions to modify processes of mood regulation may be a useful and safe intervention for patients with these presentations. PMID:22569307

  5. Findings

    MedlinePlus

    ... Issue All Issues Explore Findings by Topic Cell Biology Cellular Structures, Functions, Processes, Imaging, Stress Response Chemistry ... Glycobiology, Synthesis, Natural Products, Chemical Reactions Computers in Biology Bioinformatics, Modeling, Systems Biology, Data Visualization Diseases Cancer, ...

  6. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study

    PubMed Central

    Lemke, AA; Bick, D; Dimmock, D; Simpson, P; Veith, R

    2013-01-01

    The introduction of clinical genome-wide sequencing raises complex issues regarding the management of incidental findings. However, there is a lack of empirical studies assessing views of providers involved in potential disclosure of such findings. In an anonymous survey of 279 clinical genetics professionals, we found that the vast majority agreed they were interested in knowing about clinically actionable incidental findings in themselves (96%) and their child (99%), and they reported that these types of findings should be disclosed in adult (96%) and minor (98%) patients. Approximately three-fourths agreed they were personally interested in knowing about an adult-onset clinically actionable disease (78%), and a childhood-onset non-clinically actionable disease (75%) in their child. A similar percentage of participants (70%) felt these two types of findings should be disclosed to patients. Forty-four percent wanted to know about an incidental finding that indicates an adult-onset non-clinically actionable condition in themselves and 31% wanted to know about this type of information in their child. Findings from this study revealed participant views highly dependent on clinical actionability. Further research is needed with a broader population of geneticists to increase generalizability, and with diverse patients to assess their perspectives about results disclosure from clinical sequencing. PMID:23163796

  7. Prevalence of clinical findings at examinations of young Swedish warmblood riding horses

    PubMed Central

    2013-01-01

    Background Soundness of an individual horse is important for animal welfare and owner economy. However, knowledge of health status in normal horse populations is limited due to lack of systematic health recordings. The aim of the investigation was to study the prevalence of veterinary clinical findings in 4-5-year-old Swedish warmblood riding horses, and their influence on overall health scores, where associations to future longevity has been indicated. Results The prevalence of clinical findings in 8,281 horses examined during 1983–2005 was studied according to a standardised protocol and related to overall health scores in linear statistical models. Effects of sex, age, examination event and changes over time were included. In total, 49% of the horses had clinical findings of medical health (MED), 42% in hooves (HOOF) and 74% of palpatory orthopaedic health (PALP). However, only 6%, 3% and 24% had moderate or severe findings, of MED, HOOF and PALP, respectively. Flexion test reactions were reported in 21% of the horses (5% moderate/severe), heavily influencing the overall score (H2). One fifth of these horses also had findings of unprovoked lameness while 83% had PALP findings (44% with moderate/severe findings). Acute clinical signs, i.e. heat or soreness, had a large influence on the H2 score but were rare, whereas more common clinical findings had smaller effects on overall health. Large variations in recorded health results were observed among events. A decrease in findings has occurred since 1983, in particular for PALP findings. Conclusions Results of occurrence and relevance of evaluated clinical findings could be used for advice on preventive actions to keep horses sound, and possibly for benchmarking, and genetic evaluation of health traits. The distinct effect of event on recorded clinical findings emphasises that further harmonisation of veterinary examinations are desirable. PMID:23597257

  8. The classical versus the Cabrera presentation system for resting electrocardiography: Impact on recognition and understanding of clinically important electrocardiographic changes.

    PubMed

    Lam, Anny; Wagner, Galen S; Pahlm, Olle

    2015-01-01

    The classical system for presentation of the 12-lead electrocardiogram (ECG) reflects the electrical activity of the heart as viewed in the transverse plane by 6 leads with a single anatomically ordered sequence, V1-V6; but in the frontal plane by 6 leads with dual sequences, I, II, and III, and aVR, aVL, and aVF. However, there is also a single anatomically ordered sequence of leads, called the Cabrera display that presents the six frontal plane leads in their anatomically ordered sequence of: aVL, I, -aVR, II, aVF, and III. Although it has been recognized that the Cabrera system has clinical diagnostic advantages compared to the classical display, it is currently only used in Sweden. The primary explanation of why the Cabrera system has not been adopted internationally has been that analog ECG recorders had technical limitations. Currently, however, the classical system is most often seen as a historical remnant that prevails because of conservatism within the cardiology community. PMID:26051487

  9. Ellis–van Creveld syndrome with unusual oral and dental findings: A rare clinical entity

    PubMed Central

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S.

    2016-01-01

    Ellis–van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature. PMID:27076836

  10. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

    PubMed

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S

    2016-01-01

    Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature. PMID:27076836

  11. Pressure ulcer prevention and treatment: transforming research findings into consensus based clinical guidelines.

    PubMed

    Lewis, Matthew; Pearson, Alan; Ward, Cathy

    2003-04-01

    The translation of research findings into practice guidelines is an important aspect in maintaining the currency of practice and adding value to research. While there has been a large amount of published literature regarding the treatment and prevention of pressure ulcers, very few studies have attempted to provide clear clinical guidelines. The present study proposes a model to transform research into clinical guidelines whilst developing a series of guidelines that can be applied to a variety of clinical settings. PMID:12694478

  12. Comparison of clinical and dental panoramic findings: a practice-based crossover study

    PubMed Central

    2013-01-01

    Background Aim was to compare clinical findings with x-ray findings using dental panoramic radiography (DPR). In addition, type and frequency of secondary findings in x-rays were investigated. Methods Patients were selected on the basis of available DPRs (not older than 12 months). No therapeutic measures were permitted between the DPR and the clinical findings. The clinical findings were carried out by several investigators who had no knowledge of the purpose of the study. A calibrated investigator established the x-ray findings, independently and without prior knowledge of the clinical findings. The evaluation parameters for each tooth were: missing, healthy, carious, restorative or prosthetically sufficient or insufficient treatment. Type and frequency of additional findings in the DPR were documented, e.g. quality of a root canal filling and apical changes. Results Findings of 275 patients were available. Comparison showed a correspondence between clinical and radiographic finding in 93.6% of all teeth (n = 7,789). The differences were not significant (p > 0.05). Regarding carious as well as insufficiently restored or prosthetically treated teeth, respectively there were significant differences between the two methods (p < 0.05). The DPRs showed additional findings: root fillings in 259 teeth and 145 teeth with periapical changes. Conclusions With reference to the assessment of teeth, there was no difference between the two methods. However, in the evaluation of carious as well as teeth with insufficiently restorative or prosthetic treatment, there was a clear discrepancy between the two methods. Therefore, it would have been possible to have dispensed with x-rays. Nevertheless, additional x-ray findings were found. PMID:24066660

  13. Primary extranodal head and neck classical Hodgkin lymphoma: A rare clinical case report

    PubMed Central

    Men, Yongzhi; Sun, Xuemei; Wei, Daolin; Yu, Ziwei

    2016-01-01

    The subcutaneous soft tissue of the forehead is a rare anatomic site for Hodgkin lymphoma (HL), and no such case has previously been reported in the literature, to the best of our knowledge. HLs commonly present in the nodal regions in the majority of patients, rarely occurring in extranodal sites, whereas primary extranodal lymphoma is less common and is more typical in cases of non-HL. The present study reports a novel case of extranodal head and neck classical HL (cHL), initially diagnosed as frontal fibroma. The present study describes an unusual case of subcutaneous soft tissue involvement of HL, aiming to enhance current levels of awareness for patients with extranodal symptoms. A 25-year-old male, who inadvertently detected a hard painless mass above the right superciliary arch 2 months prior to admission in April 2013 was eventually diagnosed with mixed cellularity cHL. Subsequent to six cycles of doxorubicin (Adriamycin), bleomycin, vindesine and dacarbazine chemotherapy, followed by four cycles of ifosfamide, gemcitabine, vinorelbine and prednisone chemotherapy, a satisfactory curative effect was obtained. In conclusion, it is proposed that lymphoma should be considered in the differential diagnosis of a mass involving the subcutaneous soft tissue. PMID:27446312

  14. Clustering and classical analysis of clinical and placental phenotypes in fetal growth restriction and constitutional fetal smallness.

    PubMed

    Stanek, Jerzy; Biesiada, Jacek

    2016-06-01

    This study aims to determine whether placental examination can be used to distinguish between pathologic fetal growth restriction (FGR) and constitutional fetal smallness. Data were extracted from a clinicoplacental database of high risk pregnancies during the period 1994-2013. These data were used to compare the 590 consecutive cases having birth weights below the 10th percentile with the 5201 remaining cases having gestational ages ≥20 weeks. The authors analyzed 20 clinical and 46 placental phenotypes using classical statistics, clustering analysis, and multidimensional scaling. Of the low-birth-weight babies, the following types of cases were compared: Four categories of placental phenotypes (those with features of poor uteroplacental perfusion, postuterine placental pathology, chronic inflammation, and a mixed category) better defined the presumably true FGR than did the clinical phenotypes. Maternal smoking and oligohydramnios were associated with fewer abnormal placental phenotypes than were maternal hypertensive diseases and abnormal Dopplers. Early-onset cases of fetal smallness clustered with placental features of poor uteroplacental perfusion, whereas late onset cases did not. Placental examination helps to retrospectively distinguish constitutionally small fetuses from those that are pathologically growth restricted. The latter correlate best with the clinical risk for FGR and with early-onset FGR. This correlation may have prognostic significance for the child and for future pregnancies, since hypoxic placental lesions can occur without clinical risk factors but with a tendency to recur in future pregnancies. PMID:27238719

  15. Clinical and echocardiographic findings in an 8 year old Brown Swiss cow with myocardial abscess.

    PubMed

    Gerspach, C; Schwarzwald, C C; Hilbe, M; Buczinski, S

    2016-06-01

    Intramyocardial abscesses are rare in cattle and may lead to unspecific clinical signs. This case report describes the clinical and echocardiographic findings in an 8 year old Brown Swiss cow presented with an intramural myocardial abscess. The main clinical findings were anorexia, drop in milk yield, fever, tachycardia, and hyperfibrinogenemia. Neither heart murmurs nor cardiac arrhythmias were present on auscultation. Transthoracic echocardiographic examination revealed a prominent intramural mass embedded in the left ventricular free wall and bulging into the lumen of the left ventricle. Diagnosis was confirmed at necropsy. A culture of the abscess grew Trueperella pyogenes. PMID:26900053

  16. The unicornuate uterus and its variants: clinical presentation, imaging findings, and associated complications.

    PubMed

    Khati, Nadia J; Frazier, Aletta A; Brindle, Kathleen A

    2012-02-01

    This article will describe the different variants of the unicornuate uterus, their clinical presentation and imaging findings, as well their associated complications. We will also review the associated renal anomalies. Patients' symptoms and their imaging findings will vary depending on the unicornuate subtype. Radiologic evaluation includes a combination of hysterosalpingography, sonography, and magnetic resonance imaging. Complications include obstetric ones related to the small uterine size and endometriosis and ectopic pregnancies when a cavitary rudimentary uterine horn is present. Radiologists should be familiar with all variants of the unicornuate uterus as well as their clinical presentation and associated imaging findings. PMID:22298877

  17. A retrospective study on clinical findings of 7300 cases (2007-2014) of barren female dromedaries.

    PubMed

    Ali, A; Derar, R; Al-Sobayil, F; Al-Hawas, A; Hassanein, K

    2015-08-01

    The objective of this study was to investigate the clinical findings in barren female dromedaries examined for different complaints. Female camels were examined for repeat breeding with regular heat interval (RB-R, n = 5444), refused mating (RM, n = 1299), repeat breeding with long heat interval (RB-L, n = 489), difficulties or bleeding during mating (DM, n = 53), and for manifestation of male-like behavior (MB, n = 15). The genital tracts of all females were evaluated using transrectal palpation, ultrasonography, and exploration of the vagina. Cervical swabs were obtained for bacteriologic examination. Clinical endometritis, ovarian hydrobursitis, and vaginal adhesions were the main clinical findings in the female camels examined for RB-R, RM, and RB-L, respectively. Parity affected the frequency of occurrence of these findings. The incidences of clinical endometritis, ovarian hydrobursitis, and vaginal adhesions in nullipara and multipara were 28% versus 32.3% (P = 0.004), 37.1% versus 23.7% (P = 0.001), and 5.7% versus 18.3% (P = 0.001), respectively. Vaginal adhesions, persistent hymen, pelvic abscess, and vulvar atresia were the clinical findings in the female camels presented due to bleeding at mating or with a history of an incomplete intromission of the penis. The male-like behavior was associated with an enlargement of the clitoris and narrowing of the vulva and vagina. Trueperella pyogenes, Staphylococcus aureus, Pseudomonas aeruginosa, Klebsiella pneumonia, Streptococcus zooepidemicus, and β-hemolytic Streptococcus were isolated from females presented for repeat breeding syndrome. In conclusion, clinical endometritis, ovarian hydrobursitis, and vaginal adhesions were the main clinical findings in barren female dromedaries. Parity affected the frequency of the clinical findings. PMID:25935372

  18. Classical and Novel Prognostic Markers for Breast Cancer and their Clinical Significance

    PubMed Central

    Taneja, Pankaj; Maglic, Dejan; Kai, Fumitake; Zhu, Sinan; Kendig, Robert D.; Fry, Elizabeth A.; Inoue, Kazushi

    2010-01-01

    The use of biomarkers ensures breast cancer patients receive optimal treatment. Established biomarkers such as estrogen receptor (ER) and progesterone receptor (PR) have been playing significant roles in the selection and management of patients for endocrine therapy. HER2 is a strong predictor of response to trastuzumab. Recently, the roles of ER as a negative and HER2 as a positive indicator for chemotherapy have been established. Ki67 has traditionally been recognized as a poor prognostic factor, but recent studies suggest that measurement of Ki67-positive cells during treatment will more effectively predict treatment efficacy for both anti-hormonal and chemotherapy. p53 mutations are found in 20–35% of human breast cancers and are associated with aggressive disease with poor clinical outcome when the DNA-binding domain is mutated. The utility of cyclin D1 as a predictor of breast cancer prognosis is controversial, but cyclin D1b overexpression is associated with poor prognosis. Likewise, overexpression of the low molecular weight form of cyclin E1 protein predicts poor prognosis. Breast cancers from BRCA1/2 carriers often show high nuclear grades, negativity to ER/PR/HER2, and p53 mutations, and thus, are associated with poor prognosis. The prognostic values of other molecular markers, such as p14ARF, TBX2/3, VEGF in breast cancer are also discussed. Careful evaluation of these biomarkers with current treatment modality is required to determine whether their measurement or monitoring offer significant clinical benefits. PMID:20567632

  19. Diagnostic Value of Clinical Findings in Evaluation of Thoracolumbar Blunt Traumas

    PubMed Central

    Shahrami, Ali; Shojaee, Majid; Tabatabaee, Seyed Mohammadreza; Mianehsaz, Elaheh

    2016-01-01

    Introduction: Necessity of imaging for symptom-free conscious patients presented to emergency department (ED) following traumatic thoracolumbar spine injuries has been a matter of debate. The present study was aimed to evaluate the diagnostic value of clinical findings in prediction of traumatic thoracolumbar injuries compared tocomputed tomography (CT) scan. Methods: The present diagnostic value study was carried out using non-random convenience sampling during the time between October 2013 and March 2014. All trauma patients > 15 years old underwent thoracolumbar CT scan were included. Correlation between clinical and CT findings was measured using SPSS 21.0 and screening performance characteristics of clinical findings in prediction of thoracolumbar fracture were calculated. Results: 169 patients with mean age of 37.8 ± 17.3 years (rage: 15-86) were evaluated (69.8% male). All fracture patients had at least 1 positive finding in history and physical examination. The fracture was confirmed in only 24.6% of the patients with positive findings in history or physical examination. In 37.5% of patients the location of fracture, matched the area of positive physical examinations. Sensitivity, specificity, PPV, NPV, PLR, and NLR of clinical findings in comparison to thoracolumbar CT scan were 100 (95% CI: 89 - 100), 1.5 (95% CI: 0.2-6), 24.5 (95% CI: 18.3-31.9), 100 (95% CI: 19.7-100), 32.5 (95% CI: 24.6-43.03), and infinite, respectively. Conclusion: The results of the present study, show the excellent screening performance characteristics of clinical findings in prediction of traumatic thoracolumbar fracture (100% sensitivity). It could be concluded that in conscious patients with stable hemodynamic, who have no distracting pain and are not intoxicated, probability of thoracolumbar fracture is very low and near to zero in case of no positive clinical finding. PMID:27299140

  20. Expression of classical HLA class I molecules: regulation and clinical impacts: Julia Bodmer Award Review 2015.

    PubMed

    René, C; Lozano, C; Eliaou, J-F

    2016-05-01

    Human leukocyte antigen (HLA) class I genes are ubiquitously expressed, but in a tissue specific-manner. Their expression is primarily regulated at the transcriptional level and can be modulated both positively and negatively by different stimuli. Advances in sequencing technologies led to the identification of new regulatory variants located in the untranslated regions (UTRs), which could influence the expression. After a brief description of the mechanisms underlying the transcriptional regulation of HLA class I genes expression, we will review how the expression levels of HLA class I genes could affect biological and pathological processes. Then, we will discuss on the differential expression of HLA class I genes according to the locus, allele and UTR polymorphisms and its clinical impact. This interesting field of study led to a new dimension of HLA typing, going beyond a qualitative aspect. PMID:27060357

  1. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

    PubMed

    Green, Robert C; Berg, Jonathan S; Grody, Wayne W; Kalia, Sarah S; Korf, Bruce R; Martin, Christa L; McGuire, Amy L; Nussbaum, Robert L; O'Daniel, Julianne M; Ormond, Kelly E; Rehm, Heidi L; Watson, Michael S; Williams, Marc S; Biesecker, Leslie G

    2013-07-01

    In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the "normal" of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected. PMID:23788249

  2. Mining a clinical data warehouse to discover disease-finding associations using co-occurrence statistics

    PubMed Central

    Cao, Hui; Markatou, Marianthi; Melton, Genevieve B.; Chiang, Michael F.; Hripcsak, George

    2005-01-01

    This paper applies co-occurrence statistics to discover disease-finding associations in a clinical data warehouse. We used two methods, χ2 statistics and the proportion confidence interval (PCI) method, to measure the dependence of pairs of diseases and findings, and then used heuristic cutoff values for association selection. An intrinsic evaluation showed that 94 percent of disease-finding associations obtained by χ2 statistics and 76.8 percent obtained by the PCI method were true associations. The selected associations were used to construct knowledge bases of disease-finding relations (KB-χ2, KB-PCI). An extrinsic evaluation showed that both KB-χ2 and KB-PCI could assist in eliminating clinically non-informative and redundant findings from problem lists generated by our automated problem list summarization system. PMID:16779011

  3. G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications

    PubMed Central

    Luzzatto, Lucio; Seneca, Elisa

    2014-01-01

    That primaquine and other drugs can trigger acute haemolytic anaemia in subjects who have an inherited mutation of the glucose 6-phosphate dehydrogenase (G6PD) gene has been known for over half a century: however, these events still occur, because when giving the drug either the G6PD status of a person is not known, or the risk of this potentially life-threatening complication is under-estimated. Here we review briefly the genetic basis of G6PD deficiency, and then the pathophysiology and the clinical features of drug-induced haemolysis; we also update the list of potentially haemolytic drugs (which includes rasburicase). It is now clear that it is not good practice to give one of these drugs before testing a person for his/her G6PD status, especially in populations in whom G6PD deficiency is common. We discuss therefore how G6PD testing can be done reconciling safety with cost; this is once again becoming of public health importance, as more countries are moving along the pathway of malaria elimination, that might require mass administration of primaquine. Finally, we sketch the triangular relationship between malaria, antimalarials such as primaquine, and G6PD deficiency: which is to some extent protective against malaria, but also a genetically determined hazard when taking primaquine. PMID:24372186

  4. Presumed prepatellar fibrosis in collegiate wrestlers: imaging findings and clinical correlation.

    PubMed

    Northam, Meredith C; Gaskin, Cree M

    2015-02-01

    Knee pain and injury are common complaints of athletes presenting to the orthopedic clinic. Wrestlers are no exception, and may present more commonly with anterior knee pain because of the nature of their sport. Morel-Lavallée lesions and prepatellar bursitis have been described in the prepatellar region of wrestlers. We report a distinctly different prepatellar finding on MRI, focally prominent and discrete fibrosis in three collegiate wrestlers. This characteristic appearance and clinical setting have already been repeated in our clinical practice; thus, other MRI readers are also likely to encounter this finding, which in our experience can be considered a "don't touch" lesion of no clinical significance. PMID:24997159

  5. The Dilemma of the Clinical Trialist in Amyotrophic Lateral Sclerosis: The Hurdles to Finding a Cure.

    PubMed

    Katz, Jonathan S; Barohn, Richard J; Dimachkie, Mazen M; Mitsumoto, Hiroshi

    2015-11-01

    Amyotrophic lateral sclerosis can be described as a disease with a poorly understood pathophysiologic mechanism and no treatment that dramatically impacts the course of the disease. Clinical trialists are faced with finding small treatment effects against a background of multiple potential treatments, a past history of failed trials, and heterogenous clinical outcomes. This article summarizes this environment and provides a rationale for drug development going forward. PMID:26515630

  6. Clinical findings related to intramammary infections in meat-producing ewes.

    PubMed

    Blagitz, Maiara G; Souza, Fernando N; Batista, Camila F; Diniz, Soraia A; Haddad, João Paulo A; Benites, Nilson R; Melville, Priscilla A; Della Libera, Alice M M P

    2014-01-01

    The aim of this study was to investigate the relationship between clinical findings and bacterial isolation in milk samples of meat-producing ewes. The study was conducted in 17 commercial flocks and 550 udder halves from suckling Santa Ines ewes. Initially, the clinical examination of the mammary glands and teats was performed by visual inspection and palpation of the teats and udder halves; then a scoring system was devised for all the findings. After that, the strip cup test and the California mastitis test (CMT) were performed. Then, milk samples for somatic cell counts (SCCs) and bacteriological analyses were collected. Staphylococci bacteria were the main etiological agent isolated in the present study. Upon investigation of the correlations between bacterial isolation and the clinical findings, only the presence of teat injury, pendulous udder, and alterations in the palpation of the teat were associated with bacterial isolation. A significant correlation between bacteriologically positive milk samples and CMT and SCC was also found. Thus, some clinical findings appeared as a risk factor for bacteriologically positive milk samples and can be used as a tool in mastitis control programs. However, a complete and extensive diagnosis, an appropriate therapy, and an efficient mastitis control program will require the combination of clinical examination, microbiological tests, and SCC. PMID:23975669

  7. Diffuse Axonal Injury: CT Findings and Clinical Profiles in Six Consecutive Cases.

    PubMed

    Moschnegootz, S; Ushakov, A; Gatin, D; Shalyakin, K; Rokhlenko, O

    2010-06-01

    Diffuse axonal injury is a relatively rare type of brain trauma when prolonged coma with generally poor clinical outcome is often associated with negative neuroimaging findings. Although magnetic resonance imaging is the method of choice for evaluation of diffuse axonal injury, computed tomography still plays an important role as an emergency visualization modality. We compared computed tomography findings with clinical data, short and medium-term outcomes and, if available, autopsy results of six consecutive patients admitted to our hospital during the year of 2009. We found that corpus callosum lesions were most closely associated with diffuse axonal injury, followed by subdural hematoma or hygroma. PMID:24148587

  8. Hemorrhagic gastroenteritis caused by Escherichia coli in piglets: Clinical, pathological and microbiological findings

    PubMed Central

    Faubert, Claude; Drolet, Richard

    1992-01-01

    A retrospective study (1980-1989) was conducted to describe the clinical, pathological, and bacteriological findings in 55 cases of hemorrhagic gastroenteritis (HGE) caused by Escherichia coli in piglets. The condition occurred in weaned and suckling piglets and was associated with several serogroups of E. coli. Most of the isolates of E. coli possessed the adhesin F4 (K88) and were hemolytic. Only a few of the isolates of E. coli tested produced verotoxins. Clinical signs and pathological findings noted in these cases were compatible with shock. ImagesFigure 1.Figure 2. PMID:17423984

  9. Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings

    PubMed Central

    Yadegari, Samira; Ghorbani, Askar; Dezfouli, Mitra Ansari

    2011-01-01

    Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder. We report our finding about four patients clinically and electrophysiologically diagnosed as BVVLS and denoted their clinical features with comparison to previous reports. The first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. Our patients represented some rare features like upper motor neuron signs in one patient and two cases interestingly developed some clinical improvement. This is the first report of BVVLS from Iran. Our patients which represent Caucasian population had generally similar features like previously reported cases. PMID:24250848

  10. Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings.

    PubMed

    Yadegari, Samira; Ghorbani, Askar; Dezfouli, Mitra Ansari; Nafissi, Shahriar

    2011-01-01

    Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder. We report our finding about four patients clinically and electrophysiologically diagnosed as BVVLS and denoted their clinical features with comparison to previous reports. The first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. Our patients represented some rare features like upper motor neuron signs in one patient and two cases interestingly developed some clinical improvement. This is the first report of BVVLS from Iran. Our patients which represent Caucasian population had generally similar features like previously reported cases. PMID:24250848

  11. Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings.

    PubMed

    Mecklenburg, L; Hetzel, U; Ueberschär, S

    2000-05-01

    Epidermolytic hyperkeratosis (EH) in man is a complex of congenital, ichthyosiform skin diseases characterized clinically by blistering and hyperkeratosis. These clinical signs are the result of a collapse of the cytoskeleton, seen ultrastructurally as tonofilament clumping and cytolysis within terminally differentiating epidermal cells. In man, specific mutations in keratin 1, 2e, 9 or 10 underlie the various types of EH. This report describes the clinical, histopathological, immunohistochemical and ultrastructural findings in a 6-month-old dog with severe multifocal hyperkeratosis. The morphological changes were comparable with those of EH in man, indicating that this disease, presumably with a similar underlying pathogenetic mechanism, also occurs in the dog. PMID:10805985

  12. Fundus changes in mesangiocapillary glomerulonephritis type II: clinical and fluorescein angiographic findings.

    PubMed Central

    Duvall-Young, J; Short, C D; Raines, M F; Gokal, R; Lawler, W

    1989-01-01

    Previously we have demonstrated a deposit in Bruch's membrane in a single case of mesangiocapillary glomerulonephritis type II. We studied a group of patients with this disease and described extensive clinical and fluorescein angiographic abnormalities, which were in marked contrast to the findings in a group of patients with other forms of glomerulonephritis. This finding contributes to our understanding of the pathophysiology of the complex of the retinal pigment epithelium, Bruch's membrane, and choriocapillaris. Images PMID:2605144

  13. Lack of political diversity and the framing of findings in personality and clinical psychology.

    PubMed

    Lilienfeld, Scott O

    2015-01-01

    I extend the arguments of Duarte et al. by examining the implications of political uniformity for the framing of findings in personality and clinical psychology. I argue that the one-sided framing of psychological research on political ideology has limited our understanding of the personality correlates of liberalism and conservatism. PMID:26786842

  14. Respecting Patient Autonomy in Clinical Genomics: New Recommendations on Incidental Findings Go Astray

    PubMed Central

    Wolf, Susan M.; Annas, George J.; Elias, Sherman

    2013-01-01

    In spite of the centrality of informed consent in clinical genetics and genomics, new recommendations from the American College of Medical Genetics and Genomics (ACMG) call for laboratories and clinicians to test for and report specific genetic incidental findings, even when the patient does not consent to the testing or disclosure and even when the patient is a child. PMID:23686341

  15. Transjugular Intrahepatic Portosystemic Shunt Dysfunction: Concordance of Clinical Findings, Doppler Ultrasound Examination, and Shunt Venography

    PubMed Central

    Owen, Joshua M; Gaba, Ron Charles

    2016-01-01

    Objectives: The objective of this study was to evaluate the concordance between clinical symptoms, Doppler ultrasound (US), and shunt venography for the detection of stent-graft transjugular intrahepatic portosystemic shunt (TIPS) dysfunction. Materials and Methods: Forty-one patients (M:F 30:11, median age 55 years) who underwent contemporaneous clinical exam, Doppler US, and TIPS venography between 2003 and 2014 were retrospectively studied. Clinical symptoms (recurrent ascites or variceal bleeding) were dichotomously classified as present/absent, and US and TIPS venograms were categorized in a binary fashion as normal/abnormal. US abnormalities included high/low (>190 or <90 cm/s) TIPS velocity, significant velocity rise/fall (>50 cm/s), absent flow, and return of antegrade intra-hepatic portal flow. Venographic abnormalities included shunt stenosis/occlusion and/or pressure gradient elevation. Clinical and imaging concordance rates were calculated. Results: Fifty-two corresponding US examinations and venograms were assessed. The median time between studies was 3 days. Forty of 52 (77%) patients were symptomatic, 33/52 (64%) US examinations were abnormal, and 20/52 (38%) TIPS venograms were abnormal. Concordance between clinical symptoms and TIPS venography was 48% (25/52), while the agreement between US and shunt venography was 65% (34/52). Clinical symptoms and the US concurred in 60% (31/52) of the patients. The sensitivity of clinical symptoms and US for the detection of venographically abnormal shunts was 80% (16/20) and 85% (17/20), respectively. Both clinical symptoms and the US had low specificity (25%, 8/32 and 50%, 16/32) for venographically abnormal shunts. Conclusion: Clinical findings and the US had low concordance rates with TIPS venography, with acceptable sensitivity but poor specificity. These findings suggest the need for improved noninvasive imaging methods for stent-graft TIPS surveillance. PMID:27563495

  16. REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT.

    PubMed

    Gurkas, E; Kartal, A; Aydin, K; Kucukçongar, A; Dilber, C; Ceylaner, S

    2015-01-01

    Cobalamin C (Cbl C) disease is an inborn error of intracellular cobalamin metabolism. Two distinct clinical types are defined according to the age of onset. We describe an 8 year old girl with late-onset Cbl C disease presenting with neuropsychiatric symptoms. Mutation analysis revealed homozygous c.394C>T (p.R132X) mutation in the MMACHC gene. Serial magnetic resonance imaging (MRI) before and after the treatment are provided. MRI of the brain before treatment showed bilateral patchy focal hyperintensities in the white matter and cortical atrophy. After treatment with intramuscular hydroxycobalamin, oral folinic acid, oral betaine, normalization of MRI findings can be achieved in addition to clinical improvement. We present this case to draw attention to the reversibility of clinical and MRI findings in the late onset Cbl C disease after treatment. PMID:26852513

  17. Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findings.

    PubMed

    Gandini, G; Botteron, C; Brini, E; Fatzer, R; Diana, A; Jaggy, A

    2005-06-01

    This case report describes the clinical and neuropathological findings in three young English bulldogs affected by cerebellar cortical degeneration. The dogs, born from the same parents, were presented with clinical signs indicating progressive cerebellar dysfunction: a wide-based stance, severe cerebellar ataxia characterised by marked hypermetria, spasticity, and intention tremors of the head and trunk with loss of balance. On histopathological examination, lesions were confined to the cerebellum and consisted of diffuse degenerative cortical lesions, and there was a loss of Purkinje and granule cells. The history, clinical signs and neuropathological findings confirmed the diagnosis of cerebellar cortical degeneration. To the authors' knowledge, this is the first report of cerebellar cortical degeneration in the English bulldog. PMID:15971900

  18. Equine phacoclastic uveitis: the clinical manifestations, light microscopic findings, and therapy of 7 cases.

    PubMed Central

    Grahn, B H; Cullen, C L

    2000-01-01

    This retrospective clinical study describes the clinical manifestations, light microscopic findings, and diagnosis and treatment of acute and chronic lens rupture in the horse. Rupture of the lens capsule in the horse usually results in a chronic, blinding inflammation (phacoclastic uveitis) unless prompt surgical and medical therapies are implemented. The clinical manifestations of acute lens capsule rupture included: cataract; intralenticular displacement of iridal pigment; lens cortical fragments attached to the perforated lens capsule, iris, and corneal endothelium; miosis; aqueous flare; and usually a corneal or scleral perforation with ulceration or focal full thickness corneal edema and scarring. The clinical signs of chronic phacoclastic uveitis include blindness, phthisis bulbi, and generalized corneal opacification related to scarring, vascularization, pigmentation, and edema. In one horse, acute phacoclastic uveitis was successfully treated with phacoemulsification to remove the ruptured lens and medical therapy to control the accompanying inflammation. The affected eyes of the horses with chronic phacoclastic uveitis were enucleated because of persistent clinical signs of nonulcerative keratitis and uveitis, despite long-term medical management. The clinical manifestations and lack of improvement with medical therapy are similar in the horse, dog, cat, and rabbit. However, the histologic findings in equine phacoclastic uveitis differ significantly from those in the dog, and rabbit. Images Figure 1. Figure 2. Figure 3. Figure 4. Figure 5. Figure 6. Figure 7. Figure 8. PMID:10816830

  19. A Systematic Approach to Find a Professional Audiology Clinic: Patient-Based Information

    PubMed Central

    Kim, Gungu; Kim, Gibbeum; Na, Wondo

    2016-01-01

    This brief communication introduced a systematic way to find a professional audiology clinic developed for patients and professionals by the American Academy of Audiology, American Speech-Language-Hearing Association, and Healthy Hearing. Patients can access each organization's website to find professionals and/or clinics based on criteria such as location, hours, special areas, types of service, reviews and rating by previous patients, and kinds of insurance accepted. Such a system may protect the patients from information overload, guarantee accurate information, and help them find themselves professional audiologists who can assist them. We expect professional organizations to adopt this system as soon as possible and link hearing-impaired patients with professional audiologists in Korea. PMID:27626086

  20. A Systematic Approach to Find a Professional Audiology Clinic: Patient-Based Information.

    PubMed

    Kim, Gungu; Kim, Gibbeum; Na, Wondo; Han, Woojae

    2016-09-01

    This brief communication introduced a systematic way to find a professional audiology clinic developed for patients and professionals by the American Academy of Audiology, American Speech-Language-Hearing Association, and Healthy Hearing. Patients can access each organization's website to find professionals and/or clinics based on criteria such as location, hours, special areas, types of service, reviews and rating by previous patients, and kinds of insurance accepted. Such a system may protect the patients from information overload, guarantee accurate information, and help them find themselves professional audiologists who can assist them. We expect professional organizations to adopt this system as soon as possible and link hearing-impaired patients with professional audiologists in Korea. PMID:27626086

  1. C5 and C6 human dermatomes: a clinical, electromyographical, imaging and surgical findings.

    PubMed

    Faleiros, Antonio Tadeu de Souza; Resende, Luiz Antonio de Lima; Zanini, Marco Antonio; Castro, Heloisa Amélia de Lima; Gabarra, Roberto Colichio

    2009-06-01

    There is substantial controversy in literature about human dermatomes. In this work, C5 and C6 superior limb dermatomes were studied. The method consisted of comparing clinical signs and symptoms with conduction studies, electromyographical data, neurosurgical findings, and imaging findings obtained by computerized tomography (CT) or magnetic resonance imaging (MRI), for each patient. Data analysis from superior members in 18 patients suggests that C5 is located in the lateral aspect of the shoulder and arm, and C6 in the lateral aspect of the forearm and 1st, 2nd, and 3rd fingers. To our knowledge this is the first time that C5 and C6 human dermatomes have been studied by all the following methods together: clinical, electromyographical, CT and MR imaging, and surgical findings. PMID:19547819

  2. Correlation of clinical, cytological and histological findings in oral squamous cell carcinomas

    PubMed Central

    SOUSA, MICHELE CARDOSO; ALVES, MONICA GHISLAINE OLIVEIRA; SOUZA, LUCIANO ALBINO; BRANDÃO, ADRIANA AIGOTTI HABERBECK; ALMEIDA, JANETE DIAS; CABRAL, LUIZ ANTONIO GUIMARÃES

    2014-01-01

    The present study aimed to investigate the efficiency of exfoliative cytology by correlating the clinical lesions of oral squamous cell carcinoma (OSCC) with exfoliative cytology and histopathological findings. Cases of OSCC diagnosed between 1984 and 2010 were analyzed. The inclusion criteria for the present study were the availability of detailed clinical findings and a diagnosis of the disease through exfoliative cytology and histopathology. The cases were assessed and assigned scores, which were then submitted to modal expression analysis, which considers the higher frequency scores, thus relating the variables. The cytological findings demonstrated that the majority of the cases had malignant potential. Exfoliative cytology should be used as a supplementary tool for the diagnosis of OSCC, as it enables the early detection of these lesions. However, cytology should not be used as a substitute for histopathological examination. PMID:25013502

  3. Relationship between dispositional mindfulness and substance use: findings from a clinical sample.

    PubMed

    Bowen, Sarah; Enkema, Matthew C

    2014-03-01

    There has been rapidly increasing interest over the past decade in the potential of mindfulness-based approaches to psychological and medical treatment, including a recent growth in the area of substance abuse. Thus, the relationship between trait mindfulness and substance use has been explored in several studies. Results, however, have been mixed. While several studies of college student populations have evinced positive correlations between levels of trait mindfulness and substance use, the opposite seems to be true in clinical samples, with multiple studies showing a negative association. The current study reviews research in both non-treatment seeking college students and in clinical samples, and examines the relationship between trait mindfulness and substance dependence in a clinical sample (N=281). Further, the study assesses the moderating effect of avoidant coping that might explain the disparate findings in the clinical versus nonclinical samples. PMID:24290208

  4. Clinical needs finding: developing the virtual experience-a case study.

    PubMed

    Mittal, Vaishali; Thompson, Megan; Altman, Stuart M; Taylor, Peter; Summers, Alexander; Goodwin, Kelsey; Louie, Angelique Y

    2013-09-01

    We describe an innovative program at the University of California, Davis for students to engage in clinical needs finding. Using a team-based approach, students participated in clinical rotations to observe firsthand the needs of clinicians at the university affiliated medical center. The teams were asked to develop documentary-style videos to capture key experiences that would allow future viewers to use the videos as "virtual" clinical rotations. This was conceived as a strategy to allow students in prohibitively large classes, or students in programs at institutions without associated medical or veterinary school programs, to experience clinical rotations and perform needs assessments. The students' perspectives on the experience as well as instructor analysis of best practices for this type of activity are presented and discussed. We found that the internship experience was valuable to the students participating, by not only introducing the practice of needs finding but also increasing the students' confidence in the practice of engineering design and their ability to work independently. The videos produced were of such high quality that instructors from other institutions have requested copies for instructional use. Virtual clinical rotations through video experiences may provide a reasonable substitute for students who do not have the ability to participate in rotations in person. PMID:23483373

  5. Antimicrobial prescribing by dentists in Wales, UK: findings of the first cycle of a clinical audit.

    PubMed

    Cope, A L; Barnes, E; Howells, E P; Rockey, A M; Karki, A J; Wilson, M J; Lewis, M A O; Cowpe, J G

    2016-07-01

    Objective To describe the findings of the first cycle of a clinical audit of antimicrobial use by general dental practitioners (GDPs).Setting General dental practices in Wales, UK.Subjects and methods Between April 2012 and March 2015, 279 GDPs completed the audit. Anonymous information about patients prescribed antimicrobials was recorded. Clinical information about the presentation and management of patients was compared to clinical guidelines published by the Scottish Dental Clinical Effectiveness Programme (SDCEP).Results During the data collection period, 5,782 antimicrobials were prescribed in clinical encounters with 5,460 patients. Of these 95.3% were antibiotic preparations, 2.7% were antifungal agents, and 0.6% were antivirals. Of all patients prescribed antibiotics, only 37.2% had signs of spreading infection or systemic involvement recorded, and 31.2% received no dental treatment. In total, 79.2% of antibiotic, 69.4% of antifungal, and 57.6% of antiviral preparations met audit standards for dose, frequency, and duration. GDPs identified that failure of previous local measures, patient unwillingness or inability to receive treatment, patient demand, time pressures, and patients' medical history may influence their prescribing behaviours.Conclusions The findings of the audit indicate a need for interventions to support GDPs so that they may make sustainable improvements to their antimicrobial prescribing practices. PMID:27388087

  6. Epidemiological findings and clinical and magnetic resonance presentations in subacute sclerosing panencephalitis.

    PubMed

    Cece, H; Tokay, L; Yildiz, S; Karakas, O; Karakas, E; Iscan, A

    2011-01-01

    Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. This study investigated the relationships of clinical stage with epidemiological and magnetic resonance imaging (MRI) findings in SSPE by retrospective review of 76 cases (57 male) diagnosed by typical periodic electroencephalographic features, clinical symptoms and elevated measles antibody titre in cerebrospinal fluid. Clinical stage at diagnosis was I or II in 48 patients, III in 25 and IV in three. Prominent findings at presentation were atonic/myoclonic seizures (57.9%) and mental deterioration with behaviour alteration (30.3%). Frequent MRI findings (13 - 32 patients) were subcortical, periventricular and cortical involvement and brain atrophy; the corpus callosum, basal ganglia, cerebellum and brainstem were less frequently involved. Five patients had pseudotumour cerebri. Cranial MRI at initial diagnosis was normal in 21 patients (19 stage I/II, two stage III/IV). Abnormal MRI findings were significantly more frequent in the later stages, thus a normal initial cranial MRI does not exclude SSPE, which should, therefore, be kept in mind in childhood demyelinating diseases even when the presentation is unusual. PMID:21672364

  7. Synovial Chondromatosis of the Ankle Joint: Clinical, Radiological, and Intraoperative Findings

    PubMed Central

    Sedeek, Sedeek Mohamed; Choudry, Q.; Garg, S.

    2015-01-01

    Synovial chondromatosis, also termed synovial osteochondromatosis, is a rare benign disorder characterized by the presence of cartilaginous nodules in the synovium of the joints, tendon sheaths, and bursae. It most commonly involves large joints, such as the knee, hip, and shoulder, but its presence in smaller joints has also been reported. Nevertheless, ankle involvement is unusual. The diagnosis is commonly made following a thorough history, clinical, physical, and radiographic examination. We report a case of a young patient with primary synovial chondromatosis of the ankle joint and present the clinical, radiographic, and intraoperative findings. PMID:26177002

  8. Synovial Chondromatosis of the Ankle Joint: Clinical, Radiological, and Intraoperative Findings.

    PubMed

    Sedeek, Sedeek Mohamed; Choudry, Q; Garg, S

    2015-01-01

    Synovial chondromatosis, also termed synovial osteochondromatosis, is a rare benign disorder characterized by the presence of cartilaginous nodules in the synovium of the joints, tendon sheaths, and bursae. It most commonly involves large joints, such as the knee, hip, and shoulder, but its presence in smaller joints has also been reported. Nevertheless, ankle involvement is unusual. The diagnosis is commonly made following a thorough history, clinical, physical, and radiographic examination. We report a case of a young patient with primary synovial chondromatosis of the ankle joint and present the clinical, radiographic, and intraoperative findings. PMID:26177002

  9. A Probabilistic Reasoning Method for Predicting the Progression of Clinical Findings from Electronic Medical Records

    PubMed Central

    Goodwin, Travis; Harabagiu, Sanda M.

    2015-01-01

    In this paper, we present a probabilistic reasoning method capable of generating predictions of the progression of clinical findings (CFs) reported in the narrative portion of electronic medical records. This method benefits from a probabilistic knowledge representation made possible by a graphical model. The knowledge encoded in the graphical model considers not only the CFs extracted from the clinical narratives, but also their chronological ordering (CO) made possible by a temporal inference technique described in this paper. Our experiments indicate that the predictions about the progression of CFs achieve high performance given the COs induced from patient records. PMID:26306238

  10. Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

    PubMed Central

    Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Richieri-Costa, Antonio; Santos, Juliana M.; Kokitsu-Nakata, Nancy M.

    2013-01-01

    The authors describe the clinical findings of 38 children with congenital anomalies and misoprostol intrauterine exposure. This study included 38 cases, ascertained from case series of the Hospital of Rehabilitation of Craniofacial Anomalies from University of São Paulo, with evidence of intrauterine exposure to misoprostol in the first trimester of the pregnancy. Information about misoprostol intake and drug administration route was obtained through interviews with mothers. Clinical evaluation showed 18 individuals with facial phenotype compatible with Moebius syndrome; 11 individuals with multiple congenital anomalies; and nine individuals with nonsyndromic cleft lip and/or cleft palate. This study showed a widening of the phenotypic spectrum associated with misoprostol embryotoxicity.

  11. Chinese Herbal Medicine for Functional Abdominal Pain Syndrome: From Clinical Findings to Basic Understandings

    PubMed Central

    Liu, Tao; Wang, Ning

    2016-01-01

    Functional abdominal pain syndrome (FAPS) is one of the less common functional gastrointestinal disorders. Conventional therapy has unsatisfactory response to it so people turn to Chinese medicine for help. Currently, we reviewed the whole picture of Chinese herbal medicine (CHM) clinical and basic application in the treatment of FAPS, especially the traditional Chinese medicine (TCM) syndrome, the single herb, and Chinese medicine formulae, thus to provide a solid base to further develop evidence-based study for this common gastrointestinal complaint in the future. We developed the search strategy and set the inclusion and exclusion criteria for article search. From the included articles, we totally retrieved 586 records according to our searching criteria, of which 16 were duplicate records and 291 were excluded for reasons of irrelevance. The full text of 279 articles was retrieved for detailed assessment, of which 123 were excluded for various reasons. The number one used single herb is Radix Ginseng. The most common syndrome was liver qi depression. The most frequently used classic formula was Si-Mo-Tang. This reflected the true situation of clinical practice of Chinese medicine practitioners and could be further systematically synthesized as key points of the therapeutic research for FAPS. PMID:27366194

  12. Tuberculous meningitis with multiple intracranial tuberculomas mimicking neurocysticercosis clinical and radiological findings.

    PubMed

    Oncul, Oral; Baylan, Orhan; Mutlu, Hakan; Cavuslu, Saban; Doganci, Levent

    2005-12-01

    Central nervous system (CNS) tuberculosis (TB), the most dangerous form of TB, remains a public health problem, particularly in developing countries. In the differential diagnosis of intracranial tuberculomas (ICTs), images on radiological findings should be differentiated from other causes of space-occupying lesions. These lesions include malignant diseases such as glioma or lymphoma, pyogenic abscess, toxoplasmosis, neurocysticercosis (NC), sarcoidosis, hydatidosis and late syphilitic involvement of CNS. We present a case with multiple ICTs mimicking NC with similar clinical and imaging manifestations in a young immunocompetent patient. The diagnosis was based on brain magnetic resonance imaging findings. The definitive diagnosis was confirmed mycobacteriologically in cerebrospinal fluid and sputum specimens. Adequate response to anti-TB chemotherapy was achieved while multiple ICTs in the brain disappeared slowly. In the absence of appropriate therapy, these pathologies might be fatal; the possibilities of differential diagnosis would be of great clinical importance, particularly because of the different treatment protocols required for the NC and ICTs. PMID:16377875

  13. Cardiac findings on non-gated chest computed tomography: A clinical and pictorial review.

    PubMed

    Kanza, Rene Epunza; Allard, Christian; Berube, Michel

    2016-02-01

    The use of chest computed tomography (CT) as an imaging test for the evaluation of thoracic pathology has significantly increased during the last four decades. Although cardiopulmonary diseases often overlap in their clinical manifestation, radiologists tend to overlook the heart while interpreting routine chest CT. Recent advances in CT technology have led to significant reduction of heart motion artefacts and now allow for the identification of several cardiac findings on chest CT even without electrocardiogram (ECG) gating. These observations range from simple curiosity to both benign and malignant discoveries, to life-threatening discoveries. We here present a clinical and radiologic review of common and less common cardiac findings discovered on non-gated chest CT in order to draw the attention of radiologists and referring physicians to these possibilities. PMID:26781150

  14. Current strategies and findings in clinically relevant post-translational modification-specific proteomics

    PubMed Central

    Pagel, Oliver; Loroch, Stefan; Sickmann, Albert; Zahedi, René P

    2015-01-01

    Mass spectrometry-based proteomics has considerably extended our knowledge about the occurrence and dynamics of protein post-translational modifications (PTMs). So far, quantitative proteomics has been mainly used to study PTM regulation in cell culture models, providing new insights into the role of aberrant PTM patterns in human disease. However, continuous technological and methodical developments have paved the way for an increasing number of PTM-specific proteomic studies using clinical samples, often limited in sample amount. Thus, quantitative proteomics holds a great potential to discover, validate and accurately quantify biomarkers in body fluids and primary tissues. A major effort will be to improve the complete integration of robust but sensitive proteomics technology to clinical environments. Here, we discuss PTMs that are relevant for clinical research, with a focus on phosphorylation, glycosylation and proteolytic cleavage; furthermore, we give an overview on the current developments and novel findings in mass spectrometry-based PTM research. PMID:25955281

  15. Evaluation of a classical unani pharmacopeial formulation safoof-e-muhazzil in hyperlipidemia: A randomized, standard controlled clinical study

    PubMed Central

    Jahangir, Umar; Khan, Asim Ali; Kapoor, Prem; Jalees, Farhan; Urooj, Shaista

    2014-01-01

    Aim of the Study: The aim of the following study is to evaluate the efficacy and tolerability of a compound Unani formulation in hyperlipidemia on clinical and biochemical parameters. Materials and Methods: A total of 90 patients with total cholesterol level of 220 mg/dl and above were included. In Group ‘A’ thirty patients with total cholesterol 243.5 ± 5.294 mg/dl received Unani formulation safoof-e-muhazzil (SM) in its classical powder form 5 g twice daily orally, in Group ‘B’ thirty patients with total cholesterol 234 ± 3.822 mg/dl received the SM but in compressed tablet form in the same dosage and in Group ‘C’ 30 patients with total cholesterol 242.7 ± 5.563 mg/dl received atorvastatin 10 mg as a standard control. Follow-up was carried out on second, fourth and 6th week and patients were evaluated on clinical as well as biochemical parameters. Results: Group A before treatment had mean total cholesterol of 243.5 ± 5.294 mg/dl which decreased significantly after treatment to 225.6 ± 5.953 mg/dl (P < 0.001) with a percentage change of 7.35%. Group B had mean total cholesterol of 234 ± 3.822 mg/dl which was significantly reduced to 212.67 ± 3.94 mg/dl (P < 0.001) post-treatment with a percentage change of 9.11%. Control Group C having mean total cholesterol of 242.7 ± 5.563 mg/dl before treatment was significantly decreased to 178.73 ± 4.669 mg/dl (P < 0.001) post-treatment with a percentage change of 26.3%. Group A had significant relief 20.72% (P < 0.001) in fatigue, 16.09% (P > 0.5) relief in palpitation and 26.17% (P < 0.001) relief in dyspnea post-treatment. Group B fatigue decreased significantly by 18.14% (P < 0.01), palpitation by 22.91% (P < 0.01) and dyspnea by 20.46% (P < 0.01). In Group C a non-significant increase of 2.2% was observed in fatigue post-treatment, palpitation decreased by 10.22% non-significantly and dyspnea decreased significantly by 17.64% (P < 0.001). Results indicate that the test drug safely and effectively

  16. Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

    PubMed Central

    Ali, Ibrahim K; Karjodkar, Freny R; Sansare, Kaustubh; Salve, Prashant; Goyal, Shikha

    2016-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS.

  17. Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation

    PubMed Central

    Päivärinta, Markku; Hietala, Marja; Kaasinen, Valtteri

    2015-01-01

    Objective: To describe the clinical features and brain imaging findings of autosomal dominant Parkinson disease (PD) associated with a recently reported mutation in SNCA. Methods: A Finnish family with PD in 3 successive generations, in accordance with an autosomal dominant inheritance pattern, was identified. We examined 2 available members of the family, the female proband and her daughter (both with early-onset PD), clinically and using dopamine transporter imaging ([123I]FP-CIT SPECT). A possible causative genetic defect was investigated by molecular genetic analyses. Results: A heterozygous c.158C>A (p.A53E) point mutation in SNCA was revealed in both patients. The patients presented with PD clinically characterized by severe bradykinesia but with very little tremor and early onset of levodopa-induced dyskinesia. No cognitive decline or dysautonomic features have emerged during more than 5 years of follow-up. Both patients presented with a severe striatal binding defect in dopamine transporter SPECT imaging. Conclusions: The results of this observational study add evidence to the suggestion that the p.A53E mutation in SNCA is indeed pathogenic and results in autosomal dominant PD. Bradykinesia and early onset of levodopa-induced dyskinesia are the characteristic clinical features associated with the A53E mutation, but the patients did not exhibit dementia or dysautonomia. The [123I]FP-CIT SPECT findings indicated a profound, symmetric dopaminergic defect, in contrast to those observed in patients with idiopathic PD. PMID:27066564

  18. Temporomandibular joint osteoarthritis: cone beam computed tomography findings, clinical features, and correlations.

    PubMed

    Cömert Kiliç, S; Kiliç, N; Sümbüllü, M A

    2015-10-01

    The aim of this study was to determine the prevalence of and associations between clinical signs and symptoms and cone beam computed tomography (CBCT) findings of temporomandibular joint osteoarthritis (TMJ-OA). Seventy-six patients (total 117 TMJ) with osteoarthritis were included in this study. Clinical signs and symptoms and CBCT findings were reviewed retrospectively. A considerable decrease in mandibular motions and mastication efficiency, and considerable increase in joint sounds and general pain complaints were observed. The most frequent condylar bony changes were erosion (110 joints, 94.0%), followed by flattening (108 joints, 92.3%), osteophytes (93 joints, 79.5%), hypoplasia (22 joints, 18.8%), sclerosis (14 joints, 12.0%), and subchondral cyst (four joints, 3.4%). Flattening of the articular eminence and pneumatization were each observed in five joints. Forty-one patients had bilateral degeneration and 35 had unilateral degeneration. Hypermobility was detected in 47 degenerative joints. Masticatory efficiency was negatively correlated with both condylar flattening and sclerosis, and general pain complaints was positively correlated with condylar flattening. Condylar erosion, flattening, osteophytes, pain, joint sounds, reduced jaw movements, and worsened mastication were common findings in TMJ-OA in the present study. Poor correlations were found between osseous changes and clinical signs and symptoms of TMJ-OA. CBCT is a powerful diagnostic tool for the diagnosis of TMJ-OA. PMID:26194774

  19. Clinical presentation, imaging findings, and prognosis of spinal dural arteriovenous fistula.

    PubMed

    Lee, Jookyung; Lim, Young-Min; Suh, Dae Chul; Rhim, Seung Chul; Kim, Sang Joon; Kim, Kwang-Kuk

    2016-04-01

    Spinal dural arteriovenous fistula (SDAVF) is a relatively common acquired vascular malformation of the spinal cord. Assessment of a SDAVF is often difficult because of non-specific findings on non-invasive imaging modalities. Diagnosis of a SDAVF is often delayed, and some patients receive unnecessary treatment and treatment delays, often resulting in a poor outcome. The aim of this study was to characterize the clinical presentation, typical imaging findings, and long-term outcome of SDAVF. Forty patients (13 women, 27 men; mean age 58.18 ± standard deviation 14.75 years) who were treated at our hospital from June 1992 to March 2014 were retrospectively reviewed. We investigated the baseline characteristics, clinical presentation, imaging findings, treatment modalities, and outcome of the patients. The most common clinical presentation was a sensory symptom (80%), followed by motor weakness (70%), and sphincter dysfunction (62.5%). Roughly one-third (32.5%) of patients had a stepwise progression of fluctuating weakness and sensory symptoms, but the most common presentation was chronic progressive myelopathic symptoms (47.5%). Thirty-four patients (85%) had T2 signal change on the spinal cord MRI, indicative of cord edema. Thirty-eight patients had typical perimedullary vessel flow voids on T2-weighted MRI. Twenty-eight patients were treated with endovascular embolization, five patients underwent surgery, and four patients underwent both. Clinical outcome was determined by severity of initial deficit (p=0.008), extent of cord edema (p=0.010), treatment failure (p=0.004), and a residual fistula (p=0.017). SDAVF causes a treatable myelopathy, so early diagnosis and intervention is essential. PMID:26765752

  20. Sex, Gender, and Pain: A Review of Recent Clinical and Experimental Findings

    PubMed Central

    Fillingim, Roger B.; King, Christopher D.; Ribeiro-Dasilva, Margarete C.; Rahim-Williams, Bridgett; Riley, Joseph L.

    2009-01-01

    Sex-related influences on pain and analgesia have become a topic of tremendous scientific and clinical interest, especially in the last 10 to 15 years. Members of our research group published reviews of this literature more than a decade ago, and the intervening time period has witnessed robust growth in research regarding sex, gender, and pain. Therefore, it seems timely to revisit this literature. Abundant evidence from recent epidemiologic studies clearly demonstrates that women are at substantially greater risk for many clinical pain conditions, and there is some suggestion that postoperative and procedural pain may be more severe among women than men. Consistent with our previous reviews, current human findings regarding sex differences in experimental pain indicate greater pain sensitivity among females compared with males for most pain modalities, including more recently implemented clinically relevant pain models such as temporal summation of pain and intramuscular injection of algesic substances. The evidence regarding sex differences in laboratory measures of endogenous pain modulation is mixed, as are findings from studies using functional brain imaging to ascertain sex differences in pain-related cerebral activation. Also inconsistent are findings regarding sex differences in responses to pharmacologic and non-pharmacologic pain treatments. The article concludes with a discussion of potential biopsychosocial mechanisms that may underlie sex differences in pain, and considerations for future research are discussed. Perspective This article reviews the recent literature regarding sex, gender, and pain. The growing body of evidence that has accumulated in the past 10 to 15 years continues to indicate substantial sex differences in clinical and experimental pain responses, and some evidence suggests that pain treatment responses may differ for women versus men. PMID:19411059

  1. Improving behavioral and clinical indicators in Asians and Pacific Islanders with diabetes: Findings from a community clinic-based program

    PubMed Central

    Tomioka, Michiyo; Braun, Kathryn L.; Cook, Valerie Ah; Compton, Merlita; Wertin, Kristin

    2015-01-01

    Aims This project tested the six-month impact of Stanford’s Diabetes Self-Management Program (DSMP), adapted for Asians and Pacific Islanders (APIs), on behavioral and clinical indicators. Methods Participants attended DSMP workshops at a community health center. Employing a one-group, pre–post-test design, data were collected at baseline and six-months. Ninety-six eligible API adults were enrolled. All attended four or more of the six weekly sessions, and 82 completed data collection. Measures included body mass index, blood pressure, blood lipids, blood glucose, HbA1c, as well as health behaviors. Data were analyzed by descriptive statistics and paired t-tests. Results Adaptations to DSMP were minimal, but critical to the local acceptance of the program. At six-months, significant behavioral improvements included: (1) increased minutes in stretching and aerobic exercise per week (p < 0.001); (2) reduced symptoms of hypoglycemia and hyperglycemia (p < 0.001); (3) increased self-efficacy (p < 0.001); and (4) increased number of days and times testing blood sugar levels (p < 0.001). Significant clinical improvements included: (1) lower BMI (p < 0.001); (2) lower HbA1c (p < 0.001); (3) lower total cholesterol, triglycerides, and LDL (p < 0.001); and (4) lower blood pressure (p < 0.001). Conclusions Findings suggest that the DSMP can be successfully adapted to API populations and can improve clinical measures as well as health behaviors. PMID:24636628

  2. Phase I clinical trial with IL-2-transfected xenogeneic cells administered in subcutaneous metastatic tumours: clinical and immunological findings

    PubMed Central

    Tartour, E; Mehtali, M; Sastre-Garau, X; Joyeux, I; Mathiot, C; Pleau, J M; Squiban, P; Rochlitz, C; Courtney, M; Jantscheff, P; Herrmann, R; Pouillart, P; Fridman, W H; Dorval, T

    2000-01-01

    Various studies have emphasized an immunodepression state observed at the tumour site. To reverse this defect and based upon animal studies, we initiated a phase I clinical trial of gene therapy in which various doses of xenogeneic monkey fibroblasts (Vero cells) genetically engineered to produce human IL-2 were administered intratumorally in 8 patients with metastatic solid tumours. No severe adverse effect was observed in the 8 patients analysed during this clinical trial even in the highest dose (5 ¥ 107 cells) group. This absence of toxicity seems to be associated with rapid elimination of Vero-IL-2 cells from the organism. Indeed, exogenous IL-2 mRNA could no longer be detected in the peripheral whole blood 48 hours after Vero-IL-2 cell administration. In addition, we did not find any expression of exogenous IL-2 mRNA in post-therapeutic lesions removed 29 days after the start of therapy. A major finding of this trial concerns the two histological responses of two treated subcutaneous nodules not associated with an apparent clinical response. The relationship between local treatment and tumour regression was supported by replacement of tumour cells by inflammatory cells in regressing lesions and marked induction of T and natural killer cell derived cytokines (IL-2, IL-4, IFNg …) in post-therapeutic lesions analysed 28 days after the start of Vero-IL-2 administration. Gene therapy using xenogeneic cells as vehicle may therefore present certain advantages over other vectors, such as its complete absence of toxicity. Furthermore, the in vivo biological effect of immunostimulatory genes, i.e IL-2-, may be potentiated by the xenogeneic rejection reaction. © 2000 Cancer Research Campaign http://www.bjcancer.com PMID:11076653

  3. Correlation Between Clinical Findings of Temporomandibular Disorders and MRI Characteristics of Disc Displacement

    PubMed Central

    Kumar, Raman; Pallagatti, Shambulingappa; Sheikh, Soheyl; Mittal, Amit; Gupta, Deepak; Gupta, Sonam

    2015-01-01

    Objectives : Temporomandibular joint (TMJ) dysfunction is a common condition that is best evaluated with magnetic resonance (MR) imaging. The first step in MR imaging of the TMJ is to evaluate the articular disk, or meniscus, in terms of its morphologic features and its location relative to the condyle in both closed- and open-mouth positions. Disk location is of prime importance because the presence of a displaced disk is a critical sign of TMJ dysfunction. However, disk displacement is also frequently seen in asymptomatic volunteers. It is important for the maxillofacial radiologist to detect early MR imaging signs of dysfunction, thereby avoiding the evolution of this condition to its advanced and irreversible phase which is characterized by osteoarthritic changes such as condylar flattening or osteophytes. Further the MR imaging techniques will allow a better understanding of the sources of TMJ pain and of any discrepancy between imaging findings and patient symptoms. Henceforth, the aim of the study was to evaluate whether MRI findings of various degrees of disk displacement could be correlated with the presence or absence of clinical signs and symptoms of temporomandibular disorders in symptomatic and asymptomatic subjects. Materials and Methods : In this clinical study, 44 patients (88 TMJs) were examined clinically and divided into two groups. Group 1 consisted of 22 patients with clinical signs and symptoms of TMDs either unilaterally or bilaterally and considered as study group. Group 2 consisted of 22 patients with no signs and symptoms of TMDs and considered as control group. MRI was done for both the TMJs of each patient. Displacement of the posterior band of articular disc in relation to the condyle was quantified as anterior disc displacement with reduction (ADDR), anterior disc displacement without reduction (ADDWR), posterior disc displacement (PDD). Results : Disk displacement was found in 18 (81.8%) patients of 22 symptomatic subjects in Group 1

  4. Can clinical and radiological findings predict surgery for lumbar disc herniation? A systematic literature review

    PubMed Central

    White, Andrew P.; Harrop, James; Dettori, Joseph R.

    2012-01-01

    Study design: Systematic review. Objective or clinical question: What clinical and radiological findings in patients with lumbar-herniated nucleus pulposus can serve as predictors of surgical intervention? Methods: Articles published between January 1975 and August 2011 were systematically reviewed using Pubmed, Cochrane, National Guideline Clearinghouse Databases, and bibliographies of key articles. Each article was subject to quality rating and was analyzed by two independent reviewers. Results: From 123 citations, 21 underwent full-text review. Four studies met inclusion criteria. Only baseline disability as measured by the Roland Disability Index (RDI) or the Oswestry Disability Index (ODI) was consistently associated with a greater likelihood of having discectomy surgery across multiple studies. With the current literature, we were not able to find an association between surgery and several characteristics including smoking status, body mass index, neurological deficit, positive straight leg testing, and level of herniation. Conclusions: From the limited data available, it appears that individual radiographic and clinical features are not able to predict the likelihood of surgical intervention. Higher baseline disability measurements (Oswestry and Roland) did correlate, however, with surgical treatment. PMID:23236305

  5. Histological evaluation of pulp tissue from second primary molars correlated with clinical and radiographic caries findings

    PubMed Central

    Gopinath, Vellore Kannan; Anwar, Khurshid

    2014-01-01

    Background: Managing dental caries in young children is demanding due to the elusions present on the right diagnostic criteria for treatment. The present study evaluated the histological status of pulp tissues extracted from primary second molar with caries involvement. Histological findings are correlated with clinical and radiographic assessment. Materials and Methods: Simple experimental study was conducted on upper or lower second primary molars with occlusal (22 teeth) or proximal (22 teeth) dental caries. Selected children were below 6 years of age. Percentage of caries involvement, residual dentin thickness (RDT), radiographic assessment of interradicular and periapical areas, clinical caries depth and signs and symptoms are the parameters considered for comparing with the histological findings. The specimens were grouped based on the nature of the inflammatory process as acute or chronic. The data were analyzed by Student t-test to compare histological types of inflammation with clinical parameters. P value < 0.05 was considered as significant. Results: Four cases revealed severe acute inflammation in coronal and relatively mild acute inflammation in radicular pulp. In the rest of the specimen coronal and radicular pulp had similar acute or chronic inflammatory changes. Histological evidence of pulpitis correlated with dental caries depth of ≥80%, RDT of ≤1 mm, radiographic rarefactions in the interradicular regions and symptoms of pain. Conclusion: Primary second molars with more than two-third caries involvement with symptoms of pain histologically showed inflammation of both coronal and radicular pulp tissues in all cases. PMID:24932190

  6. Racial and ethnic disparities in childhood asthma diagnosis: the role of clinical findings.

    PubMed Central

    Roberts, Eric M.

    2002-01-01

    OBJECTIVES: To establish rates of childhood asthma symptoms, diagnosis, and hospitalization by race, ethnicity, and income, and to ascertain if elevated reported prevalence of asthma diagnosis among African-American children could be explained by differences in clinical findings. METHODS: Estimates of each indicator were calculated based on data from the third National Health and Nutrition and Examination Survey (NHANES III). Bivariate and multivariate logistic regression models were estimated to predict parent or guardian report of current asthma diagnosis. RESULTS: African-American children aged 1 to 5 have a 2-fold higher probability of both asthma diagnosis and hospitalization during the previous year but no significant difference in wheeze prevalence compared to Mexican-American and European-American children. These differences are not explained by household income or clinical information. Children aged 6 to 16 had similar rates of diagnosis and hospitalization for all racial/ethnic groups, although African-American children reported wheeze symptoms one-third less often. CONCLUSIONS: Although younger African-American children have higher morbidity from asthma than their Mexican-American and European-American peers, clinical findings were similar and did not explain increased rates of diagnosis. Interpersonal dynamics within families and communication between families and clinicians are believed to influence both symptom reporting and diagnosis generation. PMID:11991334

  7. A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.

    PubMed

    Darnell, Andrew J; Austin, Howard; Bluemke, David A; Cannon, Richard O; Fischbeck, Kenneth; Gahl, William; Goldman, David; Grady, Christine; Greene, Mark H; Holland, Steven M; Hull, Sara Chandros; Porter, Forbes D; Resnik, David; Rubinstein, Wendy S; Biesecker, Leslie G

    2016-03-01

    Human genome and exome sequencing are powerful research tools that can generate secondary findings beyond the scope of the research. Most secondary genomic findings are of low importance, but some (for a current estimate of 1%-3% of individuals) confer high risk of a serious disease that could be mitigated by timely medical intervention. The impact and scope of secondary findings in genome and exome sequencing will only increase in the future. There is considerable agreement that high-impact findings should be returned to participants, but many researchers performing genomic research studies do not have the background, skills, or resources to identify, verify, interpret, and return such variants. Here, we introduce a proposal for the formation of a secondary-genomic-findings service (SGFS) that would support researchers by enabling the return of clinically actionable sequencing results to research participants in a standardized manner. We describe a proposed structure for such a centralized service and evaluate the advantages and challenges of the approach. We suggest that such a service would be of greater benefit to all parties involved than present practice, which is highly variable. We encourage research centers to consider the adoption of a centralized SGFS. PMID:26942283

  8. Maternal Clinical Findings in Malaria in Pregnancy in a Region of Northwestern Colombia

    PubMed Central

    Gabriel Piñeros, Juan; Tobon-Castaño, Alberto; Álvarez, Gonzalo; Portilla, Carmencita; Blair, Silvia

    2013-01-01

    In malaria-endemic regions of Latin America, little is known about malaria in pregnancy. To characterize the clinical and laboratory findings of maternal infection, we evaluated 166 cases of pregnant women infected with Plasmodium spp. in a prospective study conducted in northwestern Colombia during 2005–2006. A total of 89.8% (149 of 166) had fever or a history of fever in the past 48 hours, 9.0% (15 of 166) had severe malaria, of which 66.7% was caused by Plasmodium vivax and 33.3% by P. falciparum. Hepatic dysfunction was the main complication (9 of 15) observed. The proportion of severe cases was similar for both species (P = 0.41). In malaria-endemic areas of Colombia, malaria in pregnancy has a broad clinical spectrum. In pregnant women, P. vivax infection frequently leads to organ-specific complications. PMID:23897991

  9. Return of individual research results and incidental findings in the clinical trials cooperative group setting.

    PubMed

    Ferriere, Michael; Van Ness, Brian

    2012-04-01

    The National Cancer Institute (NCI)-funded cooperative group cancer clinical trial system develops experimental therapies and often collects samples from patients for correlative research. The cooperative group bank (CGB) system maintains biobanks with a current policy not to return research results to individuals. An online survey was created, and 10 directors of CGBs completed the surveys asking about understanding and attitudes in changing policies to consider return of incidental findings (IFs) and individual research results (IRRs) of health significance. The potential impact of the 10 consensus recommendations of Wolf et al. presented in this issue are examined. Reidentification of samples is often not problematic; however, changes to the current banking and clinical trial systems would require significant effort to fulfill an obligation of recontact of subjects. Additional resources, as well as a national advisory board would be required to standardize implementation. PMID:22382800

  10. Oro-palatal dysplasia Bettex-Graf--clinical findings, genetic background, treatment.

    PubMed

    Janiszewska-Olszowska, Joanna; Gawrych, Elżbieta; Dydyk, Aldona; Studniak, Ewa; Biaduń-Popławska, Anna; Zajączek, Stanisław

    2013-01-01

    Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20mm intercommissural distance allows acceptable function without the need for surgical correction. PMID:22831831

  11. Solitary trichoepithelioma in an 8-year-old child: clinical, dermoscopic and histopathologic findings.

    PubMed

    Lazaridou, Elizabeth; Fotiadou, Christina; Patsatsi, Aikaterini; Fotiadu, Anastasia; Kyrmanidou, Eirini; Kemanetzi, Christina; Ionnides, Demetrios

    2014-04-01

    Solitary trichoepithelioma (TE) is a rare, benign tumor of follicular origin that in certain cases is difficult to differentiate from basal cell carcinoma (BCC). We report the case of an 8-year-old girl with a pale pink, soft lesion on the neck. The clinical image of the lesion was equivocal, while some dermoscopic findings-blue-gray globules and arborizing vessels-could not exclude the presence of BCC from the differential diagnosis, although that would have been a very unlikely case considering the age of the patient. The histopathologic examination established the diagnosis of TE. Given the occasion of this challenging case we try to list the key clinical, dermoscopic and histopathological characteristics of TE and BCC in order to elucidate the differential diagnosis of these two entities. PMID:24855576

  12. L4-L5-S1 human dermatomes: a clinical, electromyographical, imaging and surgical findings.

    PubMed

    Faleiros, Antonio Tadeu de Souza; Resende, Luiz Antonio de Lima; Zanini, Marco Antonio; Castro, Heloisa Amélia de Lima; Gabarra, Roberto Colichio

    2009-06-01

    There is substantial controversy in literature about human dermatomes. We studied L4, L5, and S1 inferior limb dermatomes by comparing clinical signs and symptoms with conduction studies, electromyographical data, neurosurgical findings, and imaging data from computerized tomography (CT) or magnetic resonance imaging (MRI). After analyzing 60 patients, we concluded that L4 is probably located in the medial aspect of the leg, L5 in the lateral aspect of the leg and foot dorsus, and S1 in the posterior aspect of the backside, tight, leg and plantar foot skin. This is the first time that these human dermatomes have been evaluated by combined analysis of clinical, electromyographical, neurosurgical, and imaging data. PMID:19547820

  13. Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions.

    PubMed

    Christenhusz, Gabrielle M; Devriendt, Koenraad; Van Esch, Hilde; Dierickx, Kris

    2015-08-01

    While ethical and empirical interest in so-called secondary variants and incidental findings in clinical genetics contexts is growing, critical reflection on the ethical foundations of the various recommendations proposed is thus far largely lacking. We examine and critique the ethical justifications of the three most prominent disclosure positions: briefly, the clinical geneticist decides, a joint decision, and the patient decides. Subsequently, instead of immediately developing a new disclosure option, we explore relevant foundational ethical values and norms, drawing on the normative and empirical ethical literature. Four ethical signposts are thereby developed to help guide disclosure discussions. These are: respectful sharing of the clinician's expertise; transparent communication; epistemic modesty; and respect for the embedded nature of the patient. We conclude by considering the most common current disclosure positions in the light of the four ethical signposts. PMID:25407129

  14. Presumptive caudal cerebellar artery infarct in a dog: clinical and MRI findings.

    PubMed

    Negrin, A; Gaitero, L; Añor, S

    2009-11-01

    Clinical signs and magnetic resonance imaging findings of a caudal cerebellar artery infarct are reported for the first time in a dog. Clinical signs were characterised by a peracute, non-progressive, right-sided central vestibular syndrome with paradoxical right-sided head tilt. Magnetic resonance images were consistent with a territorial, non-haemorrhagic, ischaemic lesion affecting the caudo-ventral part of the right cerebellar hemisphere, mainly involving the right paramedian lobe, the ansiform lobe and the caudal cerebellar peduncle. Bloodwork results were suggestive of an underlying hypercoagulable state, although the concomitant presence of a histologically confirmed mammary gland adenocarcinoma could have also been related to the cerebellar vascular obstruction through metastatic emboli formation. Posterior-inferior cerebellar artery infarction is the human equivalent of caudal cerebellar artery infarct in dogs. PMID:19891725

  15. Hepatosplenic sarcoidosis: contrast-enhanced ultrasound findings and implications for clinical practice.

    PubMed

    Tana, Claudio; Dietrich, Christoph F; Schiavone, Cosima

    2014-01-01

    Sarcoidosis is a complex granulomatous disease that affects virtually every organ and tissue, with a prevalence that varies significantly among the sites involved. The role of conventional imaging, such as computed tomography and magnetic resonance imaging, in the assessment of hepatosplenic sarcoidosis is well established by revealing organ enlargement, multiple discrete nodules, and lymphadenopathy. In this review, we aim to describe contrast-enhanced ultrasound (CEUS) findings in liver and spleen involvement by sarcoidosis, reporting evidence from the literature and cases from our experience, after a brief update on safety profile, cost-effectiveness, and clinical indications of this novel technique. Furthermore, we highlight potential advantages of CEUS in assessing hepatosplenic sarcoidosis that may be useful in the clinical practice. PMID:25215299

  16. The relationship between the angiographic findings and the clinical features of carotid artery plaque.

    PubMed

    Kim, D I; Lee, S J; Lee, B B; Kim, Y I; Chung, C S; Seo, D W; Lee, K H; Ko, Y H; Kim, D K; Do, Y S; Byun, H S

    2000-01-01

    The purpose of this study was to investigate the histological characteristics of atheromatous carotid plaque, and to analyze the relationship between the angiographic findings and the clinical features. We retrospectively reviewed 55 cases of carotid endarterectomy for extracranial internal carotid artery stenosis, who were treated at our institute from January 1995 to December 1997. The histological examination included hematoxylin-eosin staining, Masson-trichrome staining, and immunostaining for antismooth muscle antibody and anti-CD68 antibody. The main compositions of the carotid plaque included synthetic type vascular smooth muscle cells and extracellular matrix. The histological findings showed ulceration in 49 (89.1%) cases, calcium deposits in 42 (76.4%) cases, and an inflammatory reaction in 44 (80.0%) cases. Neurological abnormalities were strongly associated with plaque ulceration (P = 0.045) and an inflammatory reaction (P = 0.013), whereas no correlation existed regarding calcium deposits (P = 0.173). The angiographic findings showed ulceration in 46 (83.6%) cases. Plaque ulceration in the angiography findings showed no statistically significant correlation with the histologic findings (P = 0.410) and preoperative neurologic abnormalities (P = 0.059). All of the atherosclerotic risk factors such as hypertension, smoking, diabetes mellitus, hyperlipidemia, and myocardial infarction had no statistically significant correlation with the histological features of the carotid plaque. In conclusion, the main compositions of carotid plaque were synthetic-type vascular smooth muscle cells and extracellular matrix. The histological ulceration and inflammatory reaction of the plaque showed a statistically significant correlation with the preoperative neurologic symptoms, whereas no correlation was seen in the calcium deposits. Angiographic ulceration showed no correlation with the histological findings or preoperative neurologic abnormalities. In addition, the

  17. Late magnetic resonance imaging and clinical findings in neonates with unilateral lesions on cranial ultrasound.

    PubMed

    Bouza, H; Dubowitz, L M; Rutherford, M; Cowan, F; Pennock, J M

    1994-11-01

    Twenty-two neonates (11 term and 11 preterm) with predominantly unilateral hemispheric lesions on ultrasound were re-examined clinically and by magnetic resonance imaging (MRI) at between two and nine years of age. The aim was to correlate early ultrasound and late MRI findings with the development of hemiplegia. At follow-up, five children were normal and 15 had hemiplegia, which was mild in seven and moderate in 10. The presence or absence of hemiplegia, or its severity, could not be predicted from either early ultrasound or later MRI appearances. PMID:7958513

  18. Typhoid Fever in Young Children in Bangladesh: Clinical Findings, Antibiotic Susceptibility Pattern and Immune Responses

    PubMed Central

    Khanam, Farhana; Sayeed, Md. Abu; Choudhury, Feroza Kaneez; Sheikh, Alaullah; Ahmed, Dilruba; Goswami, Doli; Hossain, Md. Lokman; Brooks, Abdullah; Calderwood, Stephen B.; Charles, Richelle C.; Cravioto, Alejandro; Ryan, Edward T.; Qadri, Firdausi

    2015-01-01

    Background Children bear a large burden of typhoid fever caused by Salmonella enterica serotype Typhi (S. Typhi) in endemic areas. However, immune responses and clinical findings in children are not well defined. Here, we describe clinical and immunological characteristics of young children with S. Typhi bacteremia, and antimicrobial susceptibility patterns of isolated strains. Methods As a marker of recent infection, we have previously characterized antibody-in-lymphocyte secretion (TPTest) during acute typhoid fever in adults. We similarly assessed membrane preparation (MP) IgA responses in young children at clinical presentation, and then 7-10 days and 21-28 days later. We also assessed plasma IgA, IgG and IgM responses and T cell proliferation responses to MP at these time points. We compared responses in young children (1-5 years) with those seen in older children (6-17 years), adults (18-59 years), and age-matched healthy controls. Principal Findings We found that, compared to age-matched controls patients in all age cohorts had significantly more MP-IgA responses in lymphocyte secretion at clinical presentation, and the values fell in all groups by late convalescence. Similarly, plasma IgA responses in patients were elevated at presentation compared to controls, with acute and convalescent IgA and IgG responses being highest in adults. T cell proliferative responses increased in all age cohorts by late convalescence. Clinical characteristics were similar in all age cohorts, although younger children were more likely to present with loss of appetite, less likely to complain of headache compared to older cohorts, and adults were more likely to have ingested antibiotics. Multi-drug resistant strains were present in approximately 15% of each age cohort, and 97% strains had resistance to nalidixic acid. Conclusions This study demonstrates that S. Typhi bacteremia is associated with comparable clinical courses, immunologic responses in various age cohorts

  19. Clinical and diagnostic imaging findings in an Italian wolf (Canis lupus italicus) with discospondylitis.

    PubMed

    Zeira, Offer; Briola, Chiara; Konar, Martin; Plonek, Marta; Papa, Valentina

    2013-12-01

    An adult male Italian wolf (Canis lupus italicus) was presented with an abnormal gait. Neurologic examination showed thoracic kyphosis, paraparesis, decreased proprioception in the pelvic limbs, and normal spinal reflexes. Neurologic symptoms suggested a thoracolumbar spinal cord lesion. Pathologic findings included leukocytosis. Spinal radiographs revealed ventral spondylosis of T4/T5/T6, a poorly defined intervertebral disc space, and mild lysis of the vertebral margins. Multiple metallic foreign bodies were seen in the thoracic wall. Magnetic resonance imaging of the spine detected increased signal intensity on fluid sensitive sequences of the vertebral bodies, the intervertebral disc, and surrounding soft tissues. These findings were interpreted as active discospondylitis at T4/T5. Medical therapy included antibiotic and analgesic treatment as well as movement restriction. Follow-up at 4 wk showed significant clinical and radiologic improvement. Discospondylitis should be included in the differential diagnosis in wolves with paresis. PMID:24450075

  20. Correlation of findings in clinical and high resolution ultrasonography examinations of the painful shoulder

    PubMed Central

    Kyburz, Diego; Ciurea, Adrian; Dubs, Beat; Toniolo, Martin; Bisig, Samuel Pascal; Tamborrini, Giorgio

    2015-01-01

    Objective High resolution ultrasonography is a non-painful and non-invasive imaging technique which is useful for the assessment of shoulder pain causes, as clinical examination often does not allow an exact diagnosis. The aim of this study was to compare the findings of clinical examination and high resolution ultrasonography in patients presenting with painful shoulder. Methods Non-interventional observational study of 100 adult patients suffering from unilateral shoulder pain. Exclusion criteria were shoulder fractures, prior shoulder joint surgery and shoulder injections in the past month. The physicians performing the most common clinical shoulder examinations were blinded to the results of the high resolution ultrasonography and vice versa. Results In order to detect pathology of the m. supraspinatus tendon, the Hawkins and Kennedy impingement test showed the highest sensitivity (0.86) whereas the Jobe supraspinatus test showed the highest specificity (0.55). To identify m. subscapularis tendon pathology the Gerber lift off test showed a sensitivity of 1, whereas the belly press test showed the higher specificity (0.72). The infraspinatus test showed a high sensitivity (0.90) and specificity (0.74). All AC tests (painful arc IIa, AC joint tendernessb, cross body adduction stress testc) showed high specificities (a0.96, b0.99, c0.96). Evaluating the long biceps tendon, the palm up test showed the highest sensitivity (0.47) and the Yergason test the highest specificity (0.88). Conclusion Knowledge of sensitivity and specificity of various clinical tests is important for the interpretation of clinical examination test results. High resolution ultrasonography is needed in most cases to establish a clear diagnosis. PMID:26674725

  1. The Diagnostic Value of MRI in Brucella Spondylitis With Comparison to Clinical and Laboratory Findings

    PubMed Central

    Bagheri, Ali Baradaran; Ahmadi, Koorosh; Chokan, Niaz Mohamad Jafari; Abbasi, Bita; Akhavan, Reza; Bolvardi, Ehsan; Soroureddin, Somayeh

    2016-01-01

    Background: Brucellosis is an endemic zoonotic disease, especially in the Middle East and Mediterranean regions and can involve many organs and tissue. Osteoarticular involvement is the most common complication. Spondylitis is its most prevalent clinical form in adults, and there may be difficult in diagnosis and treatment. In present study, we aimed to assess these diagnostic value of MRI, in patients with spondylitis due to brucella, comparing with clinical and laboratory findings. Method: Patients with low back pain who were admitted to Sheikhol-raees MRI center were included in this study. None of these patients had any documented infectious disease. Diagnosis of brucellosis was made, based on MRI findings, which would be approved by serology. After confirmation with serology, the group with positive serology were compared with the negative group, in sex, age, MRI findings level of vertebral involvements, signal intensity in T1 weighted and T2 weighted. Results: Among 53 patients with diagnosis of brucella spondylitis, 33 underwent serology study, 20 were positive and 13 were negative and the others consider out of study. From these 20, 3 had tuberculosis spondylitis, whose mean age was 56 and the 67% of them were male. Mean age in the positive brucella spondylitis were 46 and 67% of them were male. In negative group mean age was 55, and of whom 57% were male. There was no statistically significant difference in MRI findings such as changes in signal intensity, disk space narrowing, Intracanalicular mass, Abscess formation. Level of invlovment in vertebrae. Conclusion: The results of this study shows that although MRI is Modality of choice in diagnosis of spondylitis, it is not enough specific to diagnosis the reasons of spondylitis. PMID:27147801

  2. Multifocal motor neuropathy: correlation of nerve ultrasound, electrophysiological, and clinical findings.

    PubMed

    Kerasnoudis, Antonios; Pitarokoili, Kalliopi; Behrendt, Volker; Gold, Ralf; Yoon, Min-Suk

    2014-06-01

    We present nerve ultrasound findings in multifocal motor neuropathy (MMN) and examine their correlation with electrophysiology and functional disability. Eighty healthy controls and 12 MMN patients underwent clinical, sonographic, and electrophysiological evaluation a mean of 3.5 years (standard deviation [SD] ± 2.1) after disease onset. Nerve ultrasound revealed significantly higher cross-sectional area (CSA) values of the median (forearm, p < 0.001), ulnar (p < 0.001), and tibial nerve (ankle, p < 0.001) when compared with controls. Electroneurography documented signs of significantly lower values of the motor conduction velocity and compound muscle action potentials (cMAPs) in the upper arm nerves (median, ulnar, radial, p < 0.001). A significant correlation between sonographic and electrophysiological findings in the MMN group was found only between cMAP and CSA of the median nerve at the upper arm (r = 0.851, p < 0.001). Neither nerve sonography nor electrophysiology correlated with functional disability. MMN seems to show inhomogeneous CSA enlargement in various peripheral nerves, with weak correlation to electrophysiological findings. Neither nerve sonography nor electrophysiology correlated with functional disability. Multicentre, prospective studies are required to prove the applicability and diagnostic values of these findings. PMID:24862982

  3. Diagnostic clinical benefits of digital spot and digital 3D mammography following analysis of screening findings

    NASA Astrophysics Data System (ADS)

    Lehtimaki, Mari; Pamilo, Martti; Raulisto, Leena; Roiha, Marja; Kalke, Martti; Siltanen, Samuli; Ihamäki, Timo

    2003-05-01

    The purpose of this study is to find out the impact of 3-dimensional digital mammography and digital spot imaging following analysis of the abnormal findings of screening mammograms. Over a period of eight months, digital 3-D mammography imaging TACT Tuned Aperture Computed Tomography+, digital spot imaging (DSI), screen-film mammography imaging (SFM) and diagnostic film imaging (DFM) examinations were performed on 60 symptomatic cases. All patients were recalled because it was not possible to exclude the presence of breast cancer on screening films. Abnormal findings on the screening films were non-specific tumor-like parenchymal densities, parenchymal asymmetries or distortions with or without microcalcifications or just microcalcifications. Mammography work-up (film imaging) included spot compression and microfocus magnification views. The 3-D softcopy reading in all cases was done with Delta 32 TACT mammography workstation, while the film images were read using a mammography-specific light box. During the softcopy reading only windowing tools were allowed. The result of this study indicates that the clinical diagnostic image quality of digital 3-D and digital spot images are better than in film images, even in comparison with diagnostic work-up films. Potential advantages are to define if the mammography finding is caused by a real abnormal lesion or by superimposition of normal parenchymal structures, to detect changes in breast tissue which would otherwise be missed, to verify the correct target for biopsies and to reduce the number of biopsies performed.

  4. Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

    PubMed

    Biancheri, R; Cerone, R; Schiaffino, M C; Caruso, U; Veneselli, E; Perrone, M V; Rossi, A; Gatti, R

    2001-02-01

    The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well known, only a few isolated case reports are available concerning neurophysiological and neuroimaging findings. We carried out clinical, biochemical, neurophysiological and neuroradiologic investigations in 14 cases with early-onset of the Cbl CID defect. Mental retardation was identified in most of the cases. A variable degree of supratentorial white matter atrophy was detected in 11 cases by MR imaging and tetraventricular hydrocephalus was present in the remaining 3 patients. Waking EEG showed a clear prevalence of epileptiform abnormalities, possibly related to the high incidence of seizures in these cases. Increased latency of evoked responses and/or prolongation of central conduction time were the most significant neurophysiological abnormalities. The selective white matter involvement, shown both by neuroradiologic and neurophysiological studies, seems to be the most consistent finding of Cbl C/D deficiency and may be related to a reduced supply of methyl groups, possibly caused by the dysfunction in the methyl-transfer pathway. PMID:11315197

  5. Clinically Relevant Cardiovascular Findings Detected on Staging Computed Tomography in Patients with Several Malignancies.

    PubMed

    Surov, Alexey; Bach, Andreas Gunter; Schramm, Dominik

    2016-08-01

    We evaluated the frequency and subtypes of clinically relevant cardiovascular (CV) findings identified on staging computed tomography (CT) in a large sample. Patients (n = 5026) with different malignant diseases were staged by CT. Clinically relevant CV findings (CRCFs) were included into the study. The CRCFs were defined as cardiac aneurysm, cardiac thrombus, venous thrombosis, arterial thrombosis, arterial dissection, pulmonary thromboembolism, arterial dissection, and dislocation of venous ports/central venous catheters. The CRCFs were identified in 342 patients (6.8% of all patients). Overall, 491 CRCFs were identified in the patients (1.4 per patient). In 203 (59.4%) patients, 1 CRCF; in 129, 2 (37.7%) CRCFs; and in 10 (2.9%) cases, 3 CRCFs were detected. There were incidental venous thrombosis (n = 298, 60.7% of all CRCFs), pulmonary thromboembolism (n = 84, 17.1%), arterial aneurysms (n = 44, 8.9%), arterial thrombosis (n = 43, 8.8%), heart thrombus (n = 15, 3.1%), arterial dissection (n = 3, 0.6%), heart aneurysms (n = 2, 0.4%), and port catheter dislocation (n = 2, 0.4%). The identified CRCF can be associated with potential hazardous complications. The CV system should be carefully evaluated in staging CT investigations. PMID:26399716

  6. Melanocytic nevi with special features: clinical-dermoscopic and reflectance confocal microscopic-findings.

    PubMed

    Larre Borges, A; Zalaudek, I; Longo, C; Dufrechou, L; Argenziano, G; Lallas, A; Piana, S; Moscarella, E

    2014-07-01

    Histopathology is considered the 'gold' standard for the diagnosis and classification of melanocytic nevi, but the widespread use of in vivo diagnostic technologies such as dermoscopy and reflectance confocal microscopy (RCM), has enriched profoundly the knowledge regarding the morphological variability in nevi. This is because most morphological observations made via these in vivo tools are closely correlated with features seen in histopathology. Dermoscopy has allowed for a more detailed classification of nevi. As such, dermoscopy identifies four main morphologic groups (i.e. globular, reticular, starburst and structureless blue nevi), one group of nevi located at special body sites (i.e. face, acral, nail) and one group of nevi with special features. This latter category consists of nevi of the former categories, which are typified by peculiar clinical-histopathological findings. They can be subdivided into 'melanoma simulators' including combined nevi, recurrent nevi and sclerosing nevus with pseudomelanomatous features, 'targetoid' nevi (i.e. halo, cockade, irritated targetoid haemosiderotic and eczematous nevus) and uncommon histopathological variants such as desmoplastic, white dysplastic or ballon cell nevus. While the dermoscopic and RCM patterns of the former categories have been studied in detail, little is currently known about the clinical morphology of the heterogeneous group of 'special' nevi. In this article, we describe the clinical, dermoscopic and RCM features of 'special' nevi and review the current literature on this group of melanocytic proliferations. PMID:24171788

  7. Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings.

    PubMed

    Schelzke, Gabi; Eigenbrod, Sabina; Romero, Carlos; Varges, Daniela; Breithaupt, Maren; Taratuto, Ana L; Kretzschmar, Hans A; Zerr, Inga

    2011-04-01

    Ten percent to 15% of all human transmissible spongiform encephalopathy are characterized by a mutation in prion protein gene (PRNP). They are distinct with respect to clinical signs, disease onset, disease duration, and diagnostic findings. During our surveillance activities in Germany, we identified 7 patients with the rare mutation E196K in PRNP gene, thereof 4 patients belonging to 2 families. The clinical syndromes were characterized by nonspecific and psychiatric symptoms at disease onset and progressed to predominant motor signs. These patients showed a late median disease onset of 71 years and short disease duration of 6.5 months. In absence of family history, they mimicked sporadic Creutzfeldt-Jakob disease (CJD). In clinical tests they were 100% positive for 14-3-3 protein detection in cerebrospinal fluid and less sensitive for magnetic resonance imaging (MRI) and electroencephalogram (EEG) abnormalities. As a secondary magnetic resonance imaging (MRI) abnormality, we have seen conspicuous common involvement of the subcortical white matter in 57%. Four patients underwent autopsy-pathological lesions revealed striking similarity to sporadic Creutzfeldt-Jakob disease but also involvement of the white matter. PMID:21232818

  8. Respiratory viruses in children with cystic fibrosis: viral detection and clinical findings

    PubMed Central

    Burns, Jane L.; Emerson, Julia; Kuypers, Jane; Campbell, Angela P.; Gibson, Ronald L.; McNamara, Sharon; Worrell, Kelly; Englund, Janet A.

    2011-01-01

    Please cite this paper as: Burns et al. (2011) Respiratory viruses in children with cystic fibrosis: viral detection and clinical findings. Influenza and Other Respiratory Viruses 6(3), 218–223. Background  Viral detection from different respiratory sample types in children with cystic fibrosis (CF) is facilitated by available molecular methods, but optimum sampling strategies have not been identified. In addition, associations between viral detection and respiratory symptoms are not well described. Objectives  Study goals were to compare molecular detection of viruses from concurrent upper airway and sputum samples in children with CF and to describe relative frequency of respiratory viral infections and identify potential clinical associations. Methods  We conducted a 2‐year prospective surveillance study in 44 children with CF aged 6–18 years. Upper airway and sputum samples were collected quarterly and during pulmonary exacerbations and tested for respiratory syncytial virus (RSV), influenza viruses, parainfluenza viruses types 1–4, human metapneumovirus, coronaviruses, rhinoviruses, and adenoviruses. Physical exams and symptom surveys were used to identify respiratory signs and symptoms. Results  Upper airway samples were collected at 359 visits; concordance of PCR‐based viral detection was examined in a subset of paired upper airway and sputum samples from 21 participants at 92 visits. Rhinovirus was the most commonly detected virus (23·1% overall), and rhinovirus detection was the same for both sample types (21·7% each). Sensitivity and specificity for the detection of rhinovirus in sputum relative to upper airway sampling were 70% and 91·7%, respectively. Respiratory symptoms associated with rhinovirus detection included increased cough, increased nasal congestion, increased sputum production, and wheezing. Conclusions  A relatively high frequency of rhinovirus detection was observed by either upper airway or sputum samples, and

  9. Clinical and Laboratory Findings That Differentiate Herpes Simplex Virus Central Nervous System Disease from Enteroviral Meningitis

    PubMed Central

    Sanaee, Layli; Karnauchow, Tim

    2016-01-01

    Background. It can be difficult for clinicians to distinguish between the relatively benign enteroviral (EnV) meningitis and potentially lethal herpes simplex virus (HSV) central nervous system (CNS) disease. Very limited evidence currently exists to guide them. Objective. This study sought to identify clinical features and cerebrospinal fluid (CSF) findings associated with HSV CNS disease. Methods. Given that PCR testing often is not immediately available, this chart review study sought to identify clinical and cerebrospinal fluid (CSF) findings associated with HSV meningitis over a 6-year period. In cases where PCR was not performed, HSV and EnV were assigned based on clinical criteria. Results. We enrolled 166 consecutive patients: 40 HSV and 126 EnV patients. HSV patients had a mean 40.4 versus 31.3 years for EnV, p = 0.005, seizures 21.1% versus 1.6% for EnV, p < 0.001, altered mental status 46.2% versus 3.2% for EnV, p < 0.001, or neurological deficits 44.7% versus 3.9% for EnV, p < 0.001. CSF neutrophils were lower in HSV (median 3.0% versus 9.5%, p = 0.0002); median lymphocytes (87.0% versus 67.0%, p = 0.0004) and protein (0.9 g/L versus 0.6 g/L, p = 0.0005) were elevated. Conclusion. Our study found that HSV patients were older and more likely to have seizure, altered mental status, or neurological deficits than patients with benign EnV meningitis. HSV cases had lower CSF neutrophils, higher lymphocytes, and higher protein levels. PMID:27563314

  10. Clinical and Laboratory Findings That Differentiate Herpes Simplex Virus Central Nervous System Disease from Enteroviral Meningitis.

    PubMed

    Sanaee, Layli; Taljaard, Monica; Karnauchow, Tim; Perry, Jeffrey J

    2016-01-01

    Background. It can be difficult for clinicians to distinguish between the relatively benign enteroviral (EnV) meningitis and potentially lethal herpes simplex virus (HSV) central nervous system (CNS) disease. Very limited evidence currently exists to guide them. Objective. This study sought to identify clinical features and cerebrospinal fluid (CSF) findings associated with HSV CNS disease. Methods. Given that PCR testing often is not immediately available, this chart review study sought to identify clinical and cerebrospinal fluid (CSF) findings associated with HSV meningitis over a 6-year period. In cases where PCR was not performed, HSV and EnV were assigned based on clinical criteria. Results. We enrolled 166 consecutive patients: 40 HSV and 126 EnV patients. HSV patients had a mean 40.4 versus 31.3 years for EnV, p = 0.005, seizures 21.1% versus 1.6% for EnV, p < 0.001, altered mental status 46.2% versus 3.2% for EnV, p < 0.001, or neurological deficits 44.7% versus 3.9% for EnV, p < 0.001. CSF neutrophils were lower in HSV (median 3.0% versus 9.5%, p = 0.0002); median lymphocytes (87.0% versus 67.0%, p = 0.0004) and protein (0.9 g/L versus 0.6 g/L, p = 0.0005) were elevated. Conclusion. Our study found that HSV patients were older and more likely to have seizure, altered mental status, or neurological deficits than patients with benign EnV meningitis. HSV cases had lower CSF neutrophils, higher lymphocytes, and higher protein levels. PMID:27563314

  11. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

    PubMed Central

    2013-01-01

    Background Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. Methods This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis. Results We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS. Conclusions Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical

  12. Clinical Epidemiology and Paraclinical Findings in Tuberculosis Patients in North of Iran

    PubMed Central

    Babamahmoodi, Farhang; Alikhani, Ahmad; Yazdani Charati, Jamshid; Ghovvati, Amir; Ahangarkani, Fatemeh; Delavarian, Leila; Babamahmoodi, Abdolreza

    2015-01-01

    Background. Mycobacterium tuberculosis (M.TB) causes a wide spectrum of clinical diseases. The prevalence of TB is different in various parts of Iran and throughout the world. The present study aimed to determine the clinical epidemiology and paraclinical findings of TB. Methods. A cross-sectional study was conducted from 2008 to 2013. Patient demographic, clinical, and radiologic characteristics, picked up from the TB patient's files, were collected using a standard questionnaire format. Data was entered and analyzed using the SPSS version 16 statistical software and P value < 0.05 was considered statistically significant. Results. Out of 212 patients enrolled in this study 62% were male and the mean age was about 50 years old. 98.6% were Iranian, and 46.2% were rural. Prevalence of smear-positive TB was 66.4%. Prevalence of positive PPD was 50.7% with no significant difference between HIV-positive and -negative patients (P = 0.8). Prevalence of diabetes mellitus was 17%. 36% of the patients had history of smoking and about 29.3% were addicted to narcotics. Cough was the most common symptom (94.5%) and 84% had sputum. 15 cases (7%) had extrapulmonary TB. The mean time between the onset of symptoms and admission was 46.5 days. The delay for admission between urban and rural populations was not significantly different (P = 0.68); but for those who were in prison, the delay was significant (P = 0.02). About 46% of the patients had cavitary lesions in CXRs. Conclusion. Timely diagnosis of TB especially in prisoners by understanding its most important epidemiologic characteristics and clinical features can help to make an early treatment and prevent spread of mycobacteria and their complications. PMID:25695067

  13. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    PubMed Central

    Yang, Yaping; Muzny, Donna M.; Xia, Fan; Niu, Zhiyv; Person, Richard; Ding, Yan; Ward, Patricia; Braxton, Alicia; Wang, Min; Buhay, Christian; Veeraraghavan, Narayanan; Hawes, Alicia; Chiang, Theodore; Leduc, Magalie; Beuten, Joke; Zhang, Jing; He, Weimin; Scull, Jennifer; Willis, Alecia; Landsverk, Megan; Craigen, William J.; Bekheirnia, Mir Reza; Stray-Pedersen, Asbjorg; Liu, Pengfei; Wen, Shu; Alcaraz, Wendy; Cui, Hong; Walkiewicz, Magdalena; Reid, Jeffrey; Bainbridge, Matthew; Patel, Ankita; Boerwinkle, Eric; Beaudet, Arthur L.; Lupski, James R.; Plon, Sharon E.; Gibbs, Richard A.; Eng, Christine M.

    2015-01-01

    IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings such as FBN1 mutations causing Marfan syndrome. DESIGN, SETTING, AND PATIENTS Observational study of 2000 consecutive patients with clinical whole-exome sequencing analyzed between June 2012 and August 2014. Whole-exome sequencing tests were performed at a clinical genetics laboratory in the United States. Results were reported by clinical molecular geneticists certified by the American Board of Medical Genetics and Genomics. Tests were ordered by the patient’s physician. The patients were primarily pediatric (1756 [88%]; mean age, 6 years; 888 females [44%], 1101 males [55%], and 11 fetuses [1% gender unknown]), demonstrating diverse clinical manifestations most often including nervous system dysfunction such as developmental delay. MAIN OUTCOMES AND MEASURES Whole-exome sequencing diagnosis rate overall and by phenotypic category, mode of inheritance, spectrum of genetic events, and reporting of incidental findings. RESULTS A molecular diagnosis was reported for 504 patients (25.2%) with 58% of the diagnostic mutations not previously reported. Molecular diagnosis rates for each phenotypic category were 143/526 (27.2%; 95% CI, 23.5%–31.2%) for the neurological group, 282/1147 (24.6%; 95% CI, 22.1%–27.2%) for the neurological plus other organ systems group, 30/83 (36.1%; 95% CI, 26.1%–47.5%) for the specific neurological group, and 49/244 (20.1%; 95% CI, 15.6%–25.8%) for the nonneurological group. The Mendelian disease patterns of the 527 molecular diagnoses included 280 (53.1%) autosomal dominant, 181 (34.3%) autosomal recessive (including 5 with uniparental disomy

  14. Preliminary findings of cortical thickness abnormalities in blast injured service members and their relationship to clinical findings.

    PubMed

    Tate, D F; York, G E; Reid, M W; Cooper, D B; Jones, L; Robin, D A; Kennedy, J E; Lewis, J

    2014-03-01

    Though cortical abnormalities have been demonstrated in moderate and severe traumatic brain injured (TBI) patients, there have been no studies examining cortical changes following blast related mild TBI (mTBI). The purpose of this study was to determine the effects and functional relevance of blast mTBI on cortical thickness in a small cohort of carefully screened blast injured US Service Members (SM). Twelve SM with mTBI acquired through blast injury were compared to 11 demographically matched control SM without TBI. Both mTBI and control participants were active duty and had completed a combat deployment. Subjects underwent MRI examination and the T1 weighted anatomic images were processed using the FreeSurfer suite of tools. Cortical thickness maps were compared between groups and examined for relationships with time since injury (TSI). Utilizing a large database of functional imaging results (BrainMap), significant regions of interest (ROI) were used to determine the behavioral profiles most consistently associated with the specific ROI. In addition, clinical variables were examined as part of post-hoc analysis of functional relevance. Group comparisons controlling for age demonstrated several significant clusters of cortical thinning for the blast injured SM. After multiple comparisons correction (False Discovery Rate (FDR)), two left hemisphere clusters remained significant (left superior temporal (STG) and frontal (SFG) gyri). No clusters were significantly correlated with TSI after FDR correction. Behavioral analysis for the STG and SFG clusters demonstrated three significant behavioral/cognitive sub-domains, each associated with audition and language. Blast injured SMs demonstrated distinct areas of cortical thinning in the STG and SFG. These areas have been previously shown to be associated with audition and language. Post-hoc analyses of clinical records demonstrated significant abnormal audiology reports for the blast injured SM suggesting that the

  15. Preliminary findings of cortical thickness abnormalities in blast injured service members and their relationship to clinical findings

    PubMed Central

    York, G. E.; Reid, M. W.; Cooper, D. B.; Jones, L.; Robin, D. A.; Kennedy, J. E.; Lewis, J.

    2014-01-01

    Though cortical abnormalities have been demonstrated in moderate and severe traumatic brain injured (TBI) patients, there have been no studies examining cortical changes following blast related mild TBI (mTBI). The purpose of this study was to determine the effects and functional relevance of blast mTBI on cortical thickness in a small cohort of carefully screened blast injured US Service Members (SM). Twelve SM with mTBI acquired through blast injury were compared to 11 demographically matched control SM without TBI. Both mTBI and control participants were active duty and had completed a combat deployment. Subjects underwent MRI examination and the T1 weighted anatomic images were processed using the FreeSurfer suite of tools. Cortical thickness maps were compared between groups and examined for relationships with time since injury (TSI). Utilizing a large database of functional imaging results (BrainMap), significant regions of interest (ROI) were used to determine the behavioral profiles most consistently associated with the specific ROI. In addition, clinical variables were examined as part of post-hoc analysis of functional relevance. Group comparisons controlling for age demonstrated several significant clusters of cortical thinning for the blast injured SM. After multiple comparisons correction (False Discovery Rate (FDR)), two left hemisphere clusters remained significant (left superior temporal (STG) and frontal (SFG) gyri). No clusters were significantly correlated with TSI after FDR correction. Behavioral analysis for the STG and SFG clusters demonstrated three significant behavioral/cognitive sub-domains, each associated with audition and language. Blast injured SMs demonstrated distinct areas of cortical thinning in the STG and SFG. These areas have been previously shown to be associated with audition and language. Post-hoc analyses of clinical records demonstrated significant abnormal audiology reports for the blast injured SM suggesting that the

  16. Clinical, Microbiological and Pathological Findings of Mycobacterium ulcerans Infection in Three Australian Possum Species

    PubMed Central

    O'Brien, Carolyn R.; Handasyde, Kathrine A.; Hibble, Jennifer; Lavender, Caroline J.; Legione, Alistair R.; McCowan, Christina; Globan, Maria; Mitchell, Anthony T.; McCracken, Helen E.; Johnson, Paul D. R.; Fyfe, Janet A. M.

    2014-01-01

    Background Buruli ulcer (BU) is a skin disease caused by Mycobacterium ulcerans, with endemicity predominantly in sub-Saharan Africa and south-eastern Australia. The mode of transmission and the environmental reservoir(s) of the bacterium and remain elusive. Real-time PCR investigations have detected M. ulcerans DNA in a variety of Australian environmental samples, including the faeces of native possums with and without clinical evidence of infection. This report seeks to expand on previously published findings by the authors' investigative group with regards to clinical and subclinical disease in selected wild possum species in BU-endemic areas of Victoria, Australia. Methodology/Principal Findings Twenty-seven clinical cases of M. ulcerans infection in free-ranging possums from southeastern Australia were identified retrospectively and prospectively between 1998–2011. Common ringtail possums (Pseudocheirus peregrinus), a common brushtail possum (Trichosurus vulpecula) and a mountain brushtail possum (Trichosurus cunninghami) were included in the clinically affected cohort. Most clinically apparent cases were adults with solitary or multiple ulcerative cutaneous lesions, generally confined to the face, limbs and/or tail. The disease was minor and self-limiting in the case of both Trichosurus spp. possums. In contrast, many of the common ringtail possums had cutaneous disease involving disparate anatomical sites, and in four cases there was evidence of systemic disease at post mortem examination. Where tested using real-time PCR targeted at IS2404, animals typically had significant levels of M. ulcerans DNA throughout the gut and/or faeces. A further 12 possums without cutaneous lesions were found to have PCR-positive gut contents and/or faeces (subclinical cases), and in one of these the organism was cultured from liver tissue. Comparisons were made between clinically and subclinically affected possums, and 61 PCR-negative, non-affected individuals, with regards

  17. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

    PubMed

    Karaca, Mehmet; Hismi, Burcu; Ozgul, Riza Koksal; Karaca, Sefayet; Yilmaz, Didem Yucel; Coskun, Turgay; Sivri, Hatice Serap; Tokatli, Aysegul; Dursun, Ali

    2014-01-25

    Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829-2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n=12, 46.2% neurological presentation), followed by thromboembolic events (n=6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n=5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%. In addition, five thrombophilic nucleotide changes including MTHFR c.677 C>T and c.1298 A>C, Factor V c.1691 G>A, Factor II c.20210 G>A, and SERPINE1 4G/5G were investigated to assess their contributions to the clinical spectrum. We suggest that the effect of these polymorphisms on clinical phenotype of CBS is not very clear since the distribution of thrombophilic polymorphisms does not differ among specific groups. This study provides molecular findings of 26 Turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the CBS mutations. PMID:24211323

  18. Use of Clinical Data to Predict Appendicitis in Patients with Equivocal US Findings.

    PubMed

    Athans, Brett S; Depinet, Holly E; Towbin, Alexander J; Zhang, Yue; Zhang, Bin; Trout, Andrew T

    2016-08-01

    Purpose To determine the incremental value of clinical data in patients with ultrasonographic (US) examinations that were interpreted as being equivocal for acute appendicitis. Materials and Methods Institutional review board approval, with a waiver of informed consent, was obtained for this analysis of clinical and imaging data in patients younger than 18 years old who were evaluated for acute appendicitis. Findings from US examinations were reported in a structured fashion, including two possible equivocal impressions. Clinical data were captured as Pediatric Appendicitis (PAS) or Alvarado scores and considered as categoric (high, intermediate, or low likelihood) and continuous variables to simulate stratification of equivocal US examinations to predict appendicitis. Receiver operating characteristic curves were used to define score cutoffs, and logistic regression was used to assess individual clinical variables as predictors of appendicitis. Results The study population was made up of 776 patients (mean age, 11.7 years ± 3.7), with 429 (55.2%) girls. A total of 203 (26%) patients had appendicitis. US had a negative predictive value of 96.2% and a positive predictive value of 93.3% for depicting appendicitis, with 89 of 782 (11.4%) equivocal examinations. Categoric PAS and Alvarado scores were equivocal for 59.5% (53 of 89) and 50.6% (45 of 89) of equivocal US examinations, respectively. Categoric low- and high-likelihood PAS and Alvarado scores correctly predicted the presence of appendicitis in 61.1% (22 of 36) and 77.3% (34 of 44) of equivocal US examinations, respectively. As continuous variables, a PAS or Alvarado score of 5 or lower could be used to exclude appendicitis, with a 80.8% (21 of 26) and 90% (18 of 20) negative predictive value, respectively. Conclusion The study confirms the excellent performance of US for depicting pediatric appendicitis. In the subset of equivocal US examinations, a low clinical score (≤5) may be used to identify patients

  19. HIV research in Australia: linking basic research findings with clinical and public health outcomes

    PubMed Central

    Lewin, Sharon R; Kaldor, John M; Cooper, David A

    2006-01-01

    Despite a population of only 20 million and sustained low prevalence of HIV infection in Australia, Australian researchers have provided many substantial original findings to the fields of HIV pathogenesis, treatment and prevention. More recently, Australian clinicians and scientists have turned their attention to assisting other countries in developing effective responses, particularly within the Asia-Pacific region. It is therefore fitting that the 4th International AIDS Society (IAS) Conference on HIV Pathogenesis, Treatment and Prevention will be held in Sydney in July 2007. The meeting is expected to attract over 5000 participants and will have a dynamic and innovative programme within the three major themes of HIV basic science, clinical research and biomedical prevention. PMID:17140433

  20. Finding 'Evidence of Absence' in Medical Notes: Using NLP for Clinical Inferencing.

    PubMed

    Carter, Marjorie E; Divita, Guy; Redd, Andrew; Rubin, Michael A; Samore, Matthew H; Gupta, Kalpana; Trautner, Barbara W; Gundlapalli, Adi V

    2016-01-01

    Extracting evidence of the absence of a target of interest from medical text can be useful in clinical inferencing. The purpose of our study was to develop a natural language processing (NLP) pipelineto identify the presence of indwelling urinary catheters from electronic medical notes to aid in detection of catheter-associated urinary tract infections (CAUTI). Finding clear evidence that a patient does not have an indwelling urinary catheter is useful in making a determination regarding CAUTI. We developed a lexicon of seven core concepts to infer the absence of a urinary catheter. Of the 990,391 concepts extractedby NLP from a large corpus of 744,285 electronic medical notes from 5589 hospitalized patients, 63,516 were labeled as evidence of absence.Human review revealed three primary causes for false negatives. The lexicon and NLP pipeline were refined using this information, resulting in outputs with an acceptable false positive rate of 11%. PMID:27350471

  1. Variants of meningiomas: a review of imaging findings and clinical features.

    PubMed

    Kunimatsu, Akira; Kunimatsu, Natsuko; Kamiya, Kouhei; Katsura, Masaki; Mori, Harushi; Ohtomo, Kuni

    2016-07-01

    Meningiomas are common neoplasms that frequently occur in the brain and spine. Among the 15 histological subtypes of meningiomas in the WHO classification, the incidence of meningothelial meningiomas is the highest, followed by fibrous and transitional meningiomas. These three subtypes account for approximately 80 % of all meningiomas, and thus could be regarded as typical meningiomas. For this reason, other uncommon histological subtypes may be considered as imaging variants, and diagnosis is often challenging for radiologists solely based on imaging features of typical meningiomas. In addition to the histological subtypes, meningiomas arising in atypical locations could be easily mistaken for other lesions more commonly observed in those locations. The purpose of this article is to review characteristic clinical and imaging findings of uncommon meningiomas, including histological variants and meningiomas occurring in relatively rare locations. PMID:27138052

  2. Submaximal delayed-onset muscle soreness: correlations between MR imaging findings and clinical measures

    NASA Technical Reports Server (NTRS)

    Evans, G. F.; Haller, R. G.; Wyrick, P. S.; Parkey, R. W.; Fleckenstein, J. L.; Blomqvist, C. G. (Principal Investigator)

    1998-01-01

    PURPOSE: To assess correlations between muscle edema on magnetic resonance (MR) images and clinical indexes of muscle injury in delayed-onset muscle soreness (DOMS) produced by submaximal exercise protocols. MATERIALS AND METHODS: Sixteen subjects performed 36 elbow flexions ("biceps curls") at one of two submaximal workloads that emphasized eccentric contractions. Changes in MR imaging findings, plasma levels of creatine kinase, and pain scores were correlated. RESULTS: Both exercise protocols produced DOMS in all subjects. The best correlation was between change in creatine kinase level and volume of muscle edema on MR images, regardless of the workload. Correlations tended to be better with the easier exercise protocol. CONCLUSION: Whereas many previous studies of DOMS focused on intense exercise protocols to ensure positive results, the present investigation showed that submaximal workloads are adequate to produce DOMS and that correlations between conventionally measured indexes of injury may be enhanced at lighter exercise intensities.

  3. Non-Diabetic renal disease in Diabetes Mellitus: clinical features and renal biopsy findings

    PubMed Central

    Yenigun, E C; Dede, F; Ozturk, R; Turgut, D; Koc, E; Piskinpasa, S V; Ozkayar, N; Odabas, A R

    2015-01-01

    Aim Renal diseases in diabetes mellitus (DM) patients, include diabetic nephropathies (DN) and non-diabetic renal diseases (NDRD). The clinical differentiation among them is usually not so clear and effective. Aim of this study which examined renal biopsies in patients with type-2 DM was to identify the prevalence and the nature of NDRD. Materials and Methods We recorded the clinical and laboratory finding alongside with the histopathological examination of the renal biopsies obtained from 71 type-2 DM patients who underwent renal biopsy in our center. Based on the renal biopsy findings patients were classified into two groups (DN and NDRD) and data was compared between the two groups. Results There were 42 women and 29 men; aged 55 ± 12 years. In patients with DN (n: 34), diabetic retinopathy was more common [16 (47.1 %) vs. 6 (16.2 %) respectively, p =0.01], duration of DM was longer (108.8 ± 58.8 months vs 57.8 ± 55.9 months respectively, p <0.001) and the degree of proteinuria was more severe (6 ± 4.3 g/day vs. 4.5 ± 4.6 g/day respectively, p =0.04) compared to the patients with NDRD. Regression analysis revealed that diabetes duration >60 months, presence of diabetic retinopathy and proteinuria >3.5 g/day were independent predictors of DN with 79.4 % sensitivity and 86.5% specificity. Focal segmental glomerulosclerosis was the most frequent diagnosis in patients with NDRD. Conclusions The prevalence of NDRD is remarkably frequent in DM patients in whom nephrologists consider renal biopsy an appropriate measure. Short duration of DM, degree of proteinuria and absence of retinopathy were predictors of NDRD. Hippokratia 2015; 19 (2):148-152.

  4. Clinical, radiographic and MRI findings of the temporomandibular joint in patients with different rheumatic diseases.

    PubMed

    Helenius, L M J; Tervahartiala, P; Helenius, I; Al-Sukhun, J; Kivisaari, L; Suuronen, R; Kautiainen, H; Hallikainen, D; Lindqvist, C; Leirisalo-Repo, M

    2006-11-01

    The aim of this study was to investigate the condition of the temporomandibular joint (TMJ) in patients with different rheumatic diseases, and report correlations between the clinical, radiographic and magnetic resonance imaging (MRI) findings. The 67 patients were divided into four groups: 16 with rheumatoid arthritis (RA), 15 with mixed connective tissue disease (MCTD), 18 with ankylosing spondylitis (AS) and 18 with spondyloarthropathy (SPA). They were clinically examined, and panoramic tomography, lateral panoramic radiography and MRI of the TMJ were performed. MRI showed reduced articular cartilage in 25% (4/16) of RA, 0% (0/15) of MCTD, 17% (3/18) of AS and 17% (3/18) of SPA patients. Condylar changes included erosion, osteophytes and abnormal shape. Disc alterations included perforation, abnormal anterior position and decreased movement. These abnormalities were most frequent in RA patients, and least frequent in MCTD and SPA patients. Crepitation and reduced maximum opening of the mouth correlated with abnormalities of the disc and articular cartilage as shown by MRI. Severe condylar erosion in panoramic tomograms significantly correlated with MRI findings of condylar erosion (P<0.01), diminished thickness of condylar cartilage, abnormal condylar shape, and abnormal shape of the temporal surface of the TMJ (P< or =0.001). The presence of crepitation, limited mandibular movement and/or pain on movement of the jaw often indicated structural damage to the TMJ. Panoramic radiographs provide an alternative method to MRI but, to obtain a more detailed anatomic picture, MRI is recommended for patients with acute unexplained pain or as part of preoperative work up. A panoramic recording is not indicated when MRI is planned. PMID:17052893

  5. Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings.

    PubMed

    Prins, Doety; Hanekamp, Sandra; Cornelissen, Frans W

    2016-03-01

    Many eye diseases reduce visual acuity or are associated with visual field defects. Because of the well-defined retinotopic organization of the connections of the visual pathways, this may affect specific parts of the visual pathways and cortex, as a result of either deprivation or transsynaptic degeneration. For this reason, over the past several years, numerous structural magnetic resonance imaging (MRI) studies have examined the association of eye diseases with pathway and brain changes. Here, we review structural MRI studies performed in human patients with the eye diseases albinism, amblyopia, hereditary retinal dystrophies, age-related macular degeneration (AMD) and glaucoma. We focus on two main questions. First, what have these studies revealed? Second, what is the potential clinical relevance of their findings? We find that all the aforementioned eye diseases are indeed associated with structural changes in the visual pathways and brain. As such changes have been described in very different eye diseases, in our view the most parsimonious explanation is that these are caused by the loss of visual input and the subsequent deprivation of the visual pathways and brain regions, rather than by transsynaptic degeneration. Moreover, and of clinical relevance, for some of the diseases - in particular glaucoma and AMD - present results are compatible with the view that the eye disease is part of a more general neurological or neurodegenerative disorder that also affects the brain. Finally, establishing structural changes of the visual pathways has been relevant in the context of new therapeutic strategies to restore retinal function: it implies that restoring retinal function may not suffice to also effectively restore vision. Future structural MRI studies can contribute to (i) further establish relationships between ocular and neurological neurodegenerative disorders, (ii) investigate whether brain degeneration in eye diseases is reversible, (iii) evaluate the use

  6. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases.

    PubMed

    Kargül, B; Alcan, T; Kabalay, U; Atasu, M

    2001-01-01

    Patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy. This disorder is inherited as an X-linked trait. This report presents three cases with HED in which the clinical evaluation (intraoral and radiological), genetic findings and SEM examination of hair. Boys 6 to 14 year old and a 11 year old girl were referred to the Marmara University, Faculty of Dentistry, complaining of oligodontia in the maxillary and mandibular arches and delay in eruption of other teeth. Peg-shaped teeth have been observed. The dermatoglyphs of the patients were striking. SEM examination of hair demonstrated a distinctly abnormal longitudinal grooving along the entire length of each hair and a desquamation of the surface cuticles. The treatment was planned in a multidisciplinary odontological group involving pediatric dentistry, orthodontics, prosthodontics and oral surgery and maxillofacial radiology of future dental habilitation. A specially designed overdenture, a removable prosthesis and osseointegrated implants were constructed. Periodic recall visits were advised, to monitor the dentures and implants during periods of growth and development, and eruption of the permanent teeth. PMID:11688814

  7. Neutrophilic Bronchial Inflammation Correlates with Clinical and Functional Findings in Patients with Noncystic Fibrosis Bronchiectasis.

    PubMed

    Dente, Federico L; Bilotta, Marta; Bartoli, Maria Laura; Bacci, Elena; Cianchetti, Silvana; Latorre, Manuela; Malagrinò, Laura; Nieri, Dario; Roggi, Maria Adelaide; Vagaggini, Barbara; Paggiaro, Pierluigi

    2015-01-01

    Background. Neutrophilic bronchial inflammation is a main feature of bronchiectasis, but not much is known about its relationship with other disease features. Aim. To compare airway inflammatory markers with clinical and functional findings in subjects with stable noncystic fibrosis bronchiectasis (NCFB). Methods. 152 NFCB patients (62.6 years; females: 57.2%) underwent clinical and functional cross-sectional evaluation, including microbiologic and inflammatory cell profile in sputum, and exhaled breath condensate malondialdehyde (EBC-MDA). NFCB severity was assessed using BSI and FACED criteria. Results. Sputum neutrophil percentages inversely correlated with FEV1 (P < 0.0001; rho = -0.428), weakly with Leicester Cough Questionnaire score (P = 0.068; rho = -0.58), and directly with duration of the disease (P = 0.004; rho = 0.3) and BSI severity score (P = 0.005; rho = 0.37), but not with FACED. Sputum neutrophilia was higher in colonized subjects, P. aeruginosa colonized subjects showing greater sputum neutrophilia and lower FEV1. Patients with ≥3 exacerbations in the last year showed a significantly greater EBC-MDA than the remaining patients. Conclusions. Sputum neutrophilic inflammation and biomarkers of oxidative stress in EBC can be considered good biomarkers of disease severity in NCFB patients, as confirmed by pulmonary function, disease duration, bacterial colonization, BSI score, and exacerbation rate. PMID:26819500

  8. Neutrophilic Bronchial Inflammation Correlates with Clinical and Functional Findings in Patients with Noncystic Fibrosis Bronchiectasis

    PubMed Central

    Dente, Federico L.; Bilotta, Marta; Bartoli, Maria Laura; Bacci, Elena; Cianchetti, Silvana; Latorre, Manuela; Malagrinò, Laura; Nieri, Dario; Roggi, Maria Adelaide; Vagaggini, Barbara; Paggiaro, Pierluigi

    2015-01-01

    Background. Neutrophilic bronchial inflammation is a main feature of bronchiectasis, but not much is known about its relationship with other disease features. Aim. To compare airway inflammatory markers with clinical and functional findings in subjects with stable noncystic fibrosis bronchiectasis (NCFB). Methods. 152 NFCB patients (62.6 years; females: 57.2%) underwent clinical and functional cross-sectional evaluation, including microbiologic and inflammatory cell profile in sputum, and exhaled breath condensate malondialdehyde (EBC-MDA). NFCB severity was assessed using BSI and FACED criteria. Results. Sputum neutrophil percentages inversely correlated with FEV1 (P < 0.0001; rho = −0.428), weakly with Leicester Cough Questionnaire score (P = 0.068; rho = −0.58), and directly with duration of the disease (P = 0.004; rho = 0.3) and BSI severity score (P = 0.005; rho = 0.37), but not with FACED. Sputum neutrophilia was higher in colonized subjects, P. aeruginosa colonized subjects showing greater sputum neutrophilia and lower FEV1. Patients with ≥3 exacerbations in the last year showed a significantly greater EBC-MDA than the remaining patients. Conclusions. Sputum neutrophilic inflammation and biomarkers of oxidative stress in EBC can be considered good biomarkers of disease severity in NCFB patients, as confirmed by pulmonary function, disease duration, bacterial colonization, BSI score, and exacerbation rate. PMID:26819500

  9. Pyogenic granuloma in relation to dental implants: Clinical and histopathological findings

    PubMed Central

    Pinas, Laura

    2015-01-01

    Background The occurrence of pyogenic granuloma in association to dental implants is rare and only five cases have been reported in the literature. Material and Methods Patients charts were analyzed to select patients who had been diagnosed for pyogenic granuloma and its association with dental implants had been evaluated. The clinical status of the dental implants and the prosthesis had also been assessed. Results Clinical and histopathological diagnosis of pyogenic granuloma had been reached for soft mass growth in association with dental implants in 10 patients. Histological analysis of all samples was performed to obtain a firm diagnosis of finding against pyogenic granuloma lesions. Accumulation of dental plaque due to poor oral hygiene and improper design of the prosthesis had been related to the occurrence of pyogenic granuoloma. This lesion showed no predilection to specific surface type and had no significant association with marginal bone loss. Conclusions Pyogenic granuloma should be included in the differential diagnosis of soft mass growth around dental implants. Key words:Reactive lesion, soft mass, pyogenic granuloma, dental implant, titanium. PMID:26535087

  10. Curcumin in depressive disorders: An overview of potential mechanisms, preclinical and clinical findings.

    PubMed

    Kaufmann, Fernanda Neutzling; Gazal, Marta; Bastos, Clarissa Ribeiro; Kaster, Manuella Pinto; Ghisleni, Gabriele

    2016-08-01

    Considering the high prevalence of psychiatric disorders, its social burden and the limitations of currently available treatments, alternative therapeutic approaches targeting different biological pathways have been investigated. Curcumin is a natural compound with multi-faceted pharmacological properties, interacting with several neurotransmitter systems and intracellular signaling pathways involved in mood regulation. Also, curcumin has anti-inflammatory, antioxidant and neurotrophic effects, suggesting a strong potential to manage conditions associated with neurodegeneration, such as psychiatric disorders. Most literature data focused on the potential of curcumin to counteract behavioral and neurochemical alterations in preclinical models of depression. The findings still need to be further explored and clinical reports share some controversial results that might be associated with its low systemic bioavailability following oral administration. Other psychiatric disorders also have neurochemical alterations similar to those found in depression, including neurotoxicity, oxidative stress and neuroinflammation. Despite the limited number of reports, preclinical models investigated the potential role for curcumin in anxiety, bipolar disorder, post-traumatic stress disorder and autism spectrum disorders. Here, we will summarize the cellular targets of curcumin relevant to psychiatric disorders and its effects in preclinical and clinical studies with depression, anxiety disorders and other psychiatric related conditions. PMID:27235294

  11. Vestibular Migraine in Children and Adolescents: Clinical Findings and Laboratory Tests

    PubMed Central

    Langhagen, Thyra; Lehrer, Nicole; Borggraefe, Ingo; Heinen, Florian; Jahn, Klaus

    2015-01-01

    Introduction: Vestibular migraine (VM) is the most common cause of episodic vertigo in children. We summarize the clinical findings and laboratory test results in a cohort of children and adolescents with VM. We discuss the limitations of current classification criteria for dizzy children. Methods: A retrospective chart analysis was performed on 118 children with migraine related vertigo at a tertiary care center. Patients were grouped in the following categories: (1) definite vestibular migraine (dVM); (2) probable vestibular migraine (pVM); (3) suspected vestibular migraine (sVM); (4) benign paroxysmal vertigo (BPV); and (5) migraine with/without aura (oM) plus vertigo/dizziness according to the International Classification of Headache Disorders, 3rd edition (beta version). Results: The mean age of all patients was 12 ± 3 years (range 3–18 years, 70 females). 36 patients (30%) fulfilled criteria for dVM, 33 (28%) for pVM, 34 (29%) for sVM, 7 (6%) for BPV, and 8 (7%) for oM. Somatoform vertigo (SV) co-occurred in 27% of patients. Episodic syndromes were reported in 8%; the family history of migraine was positive in 65%. Mild central ocular motor signs were found in 24% (most frequently horizontal saccadic pursuit). Laboratory tests showed that about 20% had pathological function of the horizontal vestibulo-ocular reflex, and almost 50% had abnormal postural sway patterns. Conclusion: Patients with definite, probable, and suspected VM do not differ in the frequency of ocular motor, vestibular, or postural abnormalities. VM is the best explanation for their symptoms. It is essential to establish diagnostic criteria in clinical studies. In clinical practice, however, the most reasonable diagnosis should be made in order to begin treatment. Such a procedure also minimizes the fear of the parents and children, reduces the need to interrupt leisure time and school activities, and prevents the development of SV. PMID:25674076

  12. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

    PubMed Central

    NAJAFI, Reza; HASHEMIPOUR, Mahin; MOSTOFIZADEH, Neda; GHAZAVI, Mohammadreza; NASIRI, Jafar; SHAHSANAI, Armindokht; FAMORI, Fatemeh; NAJAFI, Fatemeh; MOAFI, Mohammad

    2016-01-01

    Objective Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia. Materials & Methods This cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran. Our study covered a wide range of cases from newborn infants (one-week old) to adolescents (children up to the age of 17 years). This study evaluated patients’ demographic information, history of disease, developmental and educational status, clinical and general conditions. Phone and in-person interviews were used to gather information. Results Out of 5100 patients screened in this study, 392 patients were affected by one of the different metabolic disorders and 167 individuals were diagnosed as organic acidemia. Propionic acidemia/methyl malonic acidemia (PA/MMA) was the most prevalent form of this metabolic disorder. The frequency of consanguinity was 84.7% in the group of patients. The mortality rate was 18.8% in patients with organic academia. Conclusion Each of the metabolic diseases, as a separate entity, is rare; nevertheless, in aggregate they have a somewhat high overall prevalence. These diseases result in mental and developmental disorders in the absence of quick diagnosis and initiation of treatment. Furthermore, more mutations should be identified in societies affected by consanguinity. Further research should also be conducted to determine worthwhile and more-efficient screening methods as well as long term neurological prognosis. PMID:27247587

  13. Report of a new case with pentasomy X and novel clinical findings

    PubMed Central

    Demirhan, O; Tanriverdi, N; Yilmaz, MB; Kocaturk-Sel, S; Inandiklioglu, N; Luleyap, U; Akbal, E; Comertpay, G; Tufan, T; Dur, O

    2015-01-01

    Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions. PMID:26929910

  14. Oral self-injuries: Clinical findings in a series of 19 patients

    PubMed Central

    Cannavale, Rosangela; Itro, Angelo; Campisi, Giuseppina; Compilato, Domenico

    2015-01-01

    Objectives: Self-injury (SI) is defined as a behavioral disturbance consisting of a deliberate harm to one’s own body without suicidal intent, it is not uncommon and ranges in severity from simple nail-biting to more extreme forms of self-mutilation. The head neck region may be the target of such lesions. SI is associated with several medical conditions, of which it can represent the first clinical sign. Aim of this paper is to describe a series of oral SI, giving special emphasis to the clinical findings, etiology and the management of lesions. Material and Methods: A total of 19 patients with oral SI were prospectively examined; attention was paid to the occurrence and characterization of oral lesions. The management of the lesion also varied depending on the patient medical history, on the etiology of the psychiatric behavior, and on the severity, frequency, and method of inflicting injury. Periodic examinations were performed (after two weeks, three months and six months) and registered. Results: All the patients healed gradually and healing was conditioned by the disease underlying. The treatment consisted of behavior modification in 11 cases, pharmacological treatment in 11 cases, psychotherapy in 2 cases, mouth guard in 9 cases, surgery in 2 cases, extractions in 1 case. Conclusions: Oral SI are uncommon in the clinical practice. They may be associated with a known disease or may be the consequence of this, but often they may be the first sign of a psychiatric disorder. Key words:Oral self-mutilation, self-inflicted lesions, self-injurious behavior, ulcers, Obsessive-Compulsive Disorder, mental retardation. PMID:25475766

  15. Diagnostic Clinical and Laboratory Findings in Response to Predetermining Bacterial Pathogen: Data from the Meningitis Registry

    PubMed Central

    Karanika, Maria; Vasilopoulou, Vasiliki A.; Katsioulis, Antonios T.; Papastergiou, Panagiotis; Theodoridou, Maria N.; Hadjichristodoulou, Christos S.

    2009-01-01

    Background Childhood Meningitis continues to be an important cause of mortality in many countries. The search for rapid diagnosis of acute bacterial meningitis has lead to the further exploration of prognostic factors. This study was scheduled in an attempt to analyze various clinical symptoms as well as rapid laboratory results and provide an algorithm for the prediction of specific bacterial aetiology of childhood bacterial meningitis. Methodology and Principal Findings During the 32 year period, 2477 cases of probable bacterial meningitis (BM) were collected from the Meningitis Registry (MR). Analysis was performed on a total of 1331 confirmed bacterial meningitis cases of patients aged 1 month to 14 years. Data was analysed using EPI INFO (version 3.4.3-CDC-Atlanta) and SPSS (version 15.0 - Chicago) software. Statistically significant (p<0.05) variables were included in a conditional backward logistic regression model. A total of 838 (63.0%) attributed to Neisseria meningitidis, 252 (18.9%) to Haemophilus influenzae, 186 (14.0%) to Streptococcus pneumoniae and 55 (4.1%) due to other bacteria. For the diagnosis of Meningococcal Meningitis, the most significant group of diagnostic criteria identified included haemorrhagic rash (OR 22.36), absence of seizures (OR 2.51), headache (OR 1.83) and negative gram stain result (OR 1.55) with a Positive Predictive Value (PPV) of 96.4% (95%CI 87.7–99.6). For the diagnosis of Streptococcus pneumoniae, the most significant group of diagnostic criteria identified included absence of haemorrhagic rash (OR 13.62), positive gram stain (OR 2.10), coma (OR 3.11), seizures (OR 3.81) and peripheral WBC≥15000/µL (OR 2.19) with a PPV of 77.8% (95%CI 40.0–97.2). For the diagnosis of Haemophilus influenzae, the most significant group of diagnostic criteria included, absence of haemorrhagic rash (OR 13.61), age≥1year (OR 2.04), absence of headache (OR 3.01), CSF Glu<40 mg/dL (OR 3.62) and peripheral WBC<15000/µL (OR 1.74) with a

  16. Changes in Heart Rate Variability after Coronary Artery Bypass Grafting and Clinical Importance of These Findings

    PubMed Central

    Lakusic, Nenad; Mahovic, Darija; Cerkez Habek, Jasna; Novak, Miroslav; Cerovec, Dusko

    2015-01-01

    Heart rate variability is a physiological feature indicating the influence of the autonomic nervous system on the heart rate. Association of the reduced heart rate variability due to myocardial infarction and the increased postinfarction mortality was first described more than thirty years ago. Many studies have unequivocally demonstrated that coronary artery bypass grafting surgery generally leads to significant reduction in heart rate variability, which is even more pronounced than after myocardial infarction. Pathophysiologically, however, the mechanisms of heart rate variability reduction associated with acute myocardial infarction and coronary artery bypass grafting are different. Generally, heart rate variability gradually recovers to the preoperative values within six months of the procedure. Unlike the reduced heart rate variability in patients having sustained myocardial infarction, a finding of reduced heart rate variability after coronary artery bypass surgery is not considered relevant in predicting mortality. Current knowledge about changes in heart rate variability in coronary patients and clinical relevance of such a finding in patients undergoing coronary artery bypass grafting are presented. PMID:26078960

  17. Clinical findings and treatment of listeriosis in 67 sheep and goats.

    PubMed

    Braun, U; Stehle, C; Ehrensperger, F

    2002-01-12

    This paper describes the clinical findings and treatment of 67 sheep and goats with listeriosis. In 55 of them the diagnosis was made on the basis of the typical signs, which included vestibular ataxia, circling, head tilt and unilateral cranial nerve deficits, but in 12 animals a definitive diagnosis was made only after postmortem examination. The most significant haematological and biochemical findings were a high haematocrit in 16 animals, a high concentration of total protein in 33, a high concentration of bilirubin in 39 and a high concentration of urea nitrogen in 28 animals. Twenty-eight of the animals had a metabolic acidosis. Thirty-nine animals were treated with antibiotics, intravenous sodium chloride and glucose solutions and sodium bicarbonate. Ten of them survived and the others were euthanased because their condition deteriorated. Of the 10 that survived, nine were able to stand when they were first examined and one was in lateral recumbency. Of 15 animals treated with chloramphenicol, one survived; of 11 animals treated with oxytetracycline, two survived; and of nine animals treated with gentamicin and ampicillin, six survived. PMID:11829065

  18. Diffuse metastasis to the thyroid: unique ultrasonographic finding and clinical correlation.

    PubMed

    Kim, Hee Kyung; Kim, Sung Sun; Oak, Chan Young; Kim, Soo Jeong; Yoon, Jee Hee; Kang, Ho-Cheol

    2014-06-01

    Cases of metastases to the thyroid gland seem to be increasing in recent years. The clinical and ultrasonographic findings of diffuse metastases have been sparsely reported. Thirteen cases of diffuse metastases to the thyroid gland were documented by thyroid ultrasonography-guided fine needle aspiration cytology between 2004 and 2013. We retrospectively reviewed the patients with diffuse thyroid metastases. The most common primary site was the lung (n=9), followed by unknown origin cancers (n=2), cholangiocarcinoma (n=1), and penile cancer (n=1). Eleven patients were incidentally found to have thyroid metastases via surveillance or staging FDG-PET. Other 2 patients were diagnosed during work-up for hypothyroidism and palpable cervical lymph nodes. On ultrasonography, the echogenicity of the enlarged thyroid gland was heterogeneously hypoechoic or isoechoic, and reticular pattern internal hypoechoic lines were observed without increased vascularity found by power Doppler ultrasonography (3 right lobe, 2 left lobe, and 8 both lobes). In the 8 patients who had involvement of both lobes, 3 had hypothyroidism. In conclusion, ultrasonographic finding of diffuse metastasis is a diffusely enlarged heterogeneous thyroid with reticular pattern internal hypoechoic lines. Thyroid function testing should be performed in all patients with diffuse thyroid metastases, especially those with bilateral lobe involvement. PMID:24932084

  19. Classical Trajectories and Quantum Spectra

    NASA Technical Reports Server (NTRS)

    Mielnik, Bogdan; Reyes, Marco A.

    1996-01-01

    A classical model of the Schrodinger's wave packet is considered. The problem of finding the energy levels corresponds to a classical manipulation game. It leads to an approximate but non-perturbative method of finding the eigenvalues, exploring the bifurcations of classical trajectories. The role of squeezing turns out decisive in the generation of the discrete spectra.

  20. A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

    PubMed

    Polymeris, Alexandros A; Tessa, Alessandra; Anagnostopoulou, Katherine; Rubegni, Anna; Galatolo, Daniele; Dinopoulos, Argirios; Gika, Artemis D; Youroukos, Sotiris; Skouteli, Eleni; Santorelli, Filippo M; Pons, Roser

    2016-08-01

    Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. Adult case series dominate the literature, and there have been only a few studies in children. The purpose of this study is to describe our experience with pediatric HSP in Greece. We report the clinical and genetic findings in our patients and aim to offer insights into the diagnostic difficulties of childhood-onset disease. A series of 15 Greek children affected by pure HSP underwent extensive diagnostic investigations. Molecular analysis included whole exome sequencing (WES) or consecutive screening of candidate genes ATL1, SPAST, REEP1, and CYP7B1. WES performed in three cases yielded previously reported mutations in ATL1 and CYP7B1, and a variant c.397C>T of unknown significance in SPG7. Candidate gene screening performed in the remaining patients identified previously reported mutations in ATL1 (2), SPAST (2), and REEP1 (1), and two novel mutations, c.1636G>A and c.1413+3_6delAAGT, in SPAST. In six cases, the mutations were inherited from their parents, while in three cases, the mutations were apparently de novo. Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms. De novo occurrence of HSP does not seem to be uncommon. Candidate gene studies guided by diagnostic algorithms and WES seem both to be reasonable genetic testing strategies. PMID:27260292

  1. Experimental transmission of intestinal coccidiosis to piglets: clinical, parasitological and pathological findings.

    PubMed Central

    Robinson, Y; Morin, M; Girard, C; Higgins, R

    1983-01-01

    Twenty-eight piglets coming from a "specific pathogen free" herd were inoculated at three days of age with 50 000 or 100 000 sporulated oocysts of Isospora suis. Fecal samples were examined for oocyst shedding daily and several clinical parameters were recorded. Ten piglets were used as normal controls. Groups of piglets were euthanized from three days to 12 days postinoculation and routine necropsies were performed. Bacteriological, virological, parasitological and histopathological examinations were made on the intestinal tracts. The incubation period was four to five days. Clinical signs and microscopic intestinal lesions observed in the experimentally infected animals were similar to those reported in spontaneous cases of porcine neonatal coccidiosis. Lesions of villous atrophy in the small intestine seemed to result from the destruction of villous epithelial cells mainly during the peak of asexual reproduction which occurred around four to five days postinoculation. Intracellular coccidial organisms were difficult to find during the late atrophic and villous regrowth stages of the intestinal lesions. The prepatent period varied from four to seven days and the most common was five days. Eighty percent of the piglets kept alive more than four days postinoculation have shed oocysts. Piglets dosed with old sporulated oocysts (ten months old) shed many more oocysts than those infected with a fresh inoculum (less than two months old). The patent period was not determined precisely with the design of the experiment but some of the infected piglets shed oocysts for at least five days. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. Fig. 6. PMID:6230142

  2. Lyme disease-related intracranial hypertension in children: clinical and imaging findings.

    PubMed

    Ramgopal, Sriram; Obeid, Rawad; Zuccoli, Giulio; Cleves-Bayon, Catalina; Nowalk, Andrew

    2016-03-01

    Lyme disease (LD) is a tick-borne infection that is endemic to multiple areas of the United States. Patients with LD may present with sign and symptoms of intracranial hypertension (IH). The objective of this study is to evaluate the history, clinical findings, CSF analysis, and brain imaging results in pediatric patients with increased intracranial pressure secondary to LD. A retrospective database search was performed using the International Classification of Diseases (ICD) 9/10 codes to identify patients diagnosed with LD and IH between 2004 and 2014 at a tertiary referral pediatric hospital. Clinical, laboratory and neuroimaging data for each patient were reviewed. Seven patients met inclusion criteria; mean age was 9.6 years (standard deviation 4.0 years); 4/7 patients were male. Average body mass index was 18.8 kg/m(2) (standard deviation 3.0 kg/m(2)). Fever was present in four patients. Four had a history of LD related erythema migrans. All had elevated CSF opening pressure with leukocytosis and lymphocytic predominance. MRI obtained in six patients showed contrast enhancement of various cranial nerves. Tentorial enhancement was noted in all patients. In addition, patients had widening of the optic nerve sheath (ONS), optic nerve protrusion, and flattening of the posterior globe consistent with increased intracranial pressure. All patients had resolution of their symptoms after initiation of antibiotic therapy. In endemic areas, LD should be included in the differential of IH. MRI can help distinguish IH due to LD from its idiopathic form due to the presence of tentorial and cranial nerve enhancement in the former in addition to abnormal CSF showing leukocytosis with lymphocyte predominance. PMID:26739381

  3. West Nile virus in raptors from Virginia during 2003: clinical, diagnostic, and epidemiologic findings.

    PubMed

    Joyner, Priscilla H; Kelly, Sean; Shreve, Allison A; Snead, Sarah E; Sleeman, Jonathan M; Pettit, Denise A

    2006-04-01

    Sixty-one birds of prey admitted to The Wildlife Center of Virginia (WCV; Waynesboro, Virginia, USA) from June to November 2003 were tested for West Nile virus (WNV) infection. Choanal and/or cloacal swabs were obtained and submitted to Virginia's Division of Consolidated Laboratory Services (Richmond, Virginia, USA) for analysis with real-time reverse transcriptase polymerase chain reaction (RT-PCR). Forty birds of prey were positive for WNV by RT-PCR. Five avian families and nine species of raptors were represented, with great horned owls (Bubo virginianus) and red-tailed hawks (Buteo jamaicensis) most frequently affected. Presenting clinical signs were consistent with previous reports of WNV infection in raptors; however, these differed between species. Of WNV positive birds, nonspecific signs of illness were the most common clinical findings, particularly in red-tailed hawks; signs included dehydration (n = 20), emaciation (n = 18), and depression (n = 15). Neurologic abnormalities were frequently identified, especially in great horned owls, and included head tremors (n = 17), ataxia (n = 13), head incoordination (n = 7), torticollis (n = 3), nystagmus (n = 3), and head tilt (n = 3). Great horned owls exhibited anemia and leukocytosis with heterophilia, eosinophilia, and monocytosis consistent with chronic inflammation. Red-tailed hawks were anemic with a heterophilic leukocytosis and regenerative left shift. The majority of WNV cases occurred during August and September; there was a marked increase in the number of raptors admitted to WCV during these months followed by a marked decrease during October, November, and December. This pattern differed from mean monthly admissions during the previous 10 years and suggests a negative impact on local raptor populations. The effects of WNV on avian populations are largely unknown; however, because of their ecological importance, further investigation of the effects of WNV on raptor populations is warranted. PMID

  4. [Acceptance of electronic data processing supported documentation of ultrasound findings in routine clinical practice. A survey].

    PubMed

    Birkner, B; Fischer, J; Heyder, N

    1994-10-01

    We carried out a survey to determine the acceptance of the ultrasound documentation software, CUBUS, in clinical practice. Since August 1, 1988, CUBUS, versions V1.01 to V2.02 has been employed in clinical routine. By October 1991 10,850 reports had been stored in version 2.02. The software is installed on a personal computer (Siemens PCD-2, 40MB, 640 KB RAM) to which a laserprinter is connected. The work of operating the system is shared between the nursing and medical staff. In order to investigate the acceptance of the printed reports produced with this system, we carried out a poll among the physicians working at the hospital. Among the 86 physicians who receive 95% of the US reports, 58% (n = 50) responded. On the basis of the categories good, satisfactory, adequate and poor, we requested an assessment of layout, presentation, comprehension, completeness and overall impression. The overall impression was assessed as good or satisfactory in 34% and 42%, respectively. In the case of the individual criteria (see above), the categories good and satisfactory scored 62% and 34%, 58% and 32%, 68% and 18% and 72% and 24%, respectively. The terminology used was accepted by 84%. Addition of, for example, image documentation, and endosonography, will expand the advantages of the input of findings and further improve the good overall impression made by the report printout in our survey, so that the relatively long input time requirement accounting for some 30% of the total examination time, is accordingly justified. PMID:7801098

  5. Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

    PubMed Central

    Zhao, Juan; Liu, Jing; Xiao, Jiangxi; Du, Jing; Que, Chengli; Shi, Xin; Liang, Wei; Sun, Weiping; Zhang, Wei; Lv, He; Yuan, Yun; Wang, Zhaoxia

    2015-01-01

    Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting

  6. Hypnosis in the management of persistent idiopathic orofacial pain--clinical and psychosocial findings.

    PubMed

    Abrahamsen, Randi; Baad-Hansen, Lene; Svensson, Peter

    2008-05-01

    This controlled and patient blinded study tested the effect of hypnosis on persistent idiopathic orofacial pain (PIOP) in terms of clinical and psychosocial findings. Forty-one PIOP were randomized to active hypnotic intervention or simple relaxation as control for five individual 1-h sessions. Primary outcome was average pain intensity scored three times daily in a pain diary using visual analogue scale (VAS). Secondary outcome measures were pain quality assessed by McGill pain questionnaire (MPQ), psychological symptoms assessed by symptom check list (SCL), quality of life assessed by SF36, sleep quality, and consumption of analgesic. Data were compared between groups before and after treatment using ANOVA models and paired t-tests. The change in VAS pain scores from baseline to the last treatment (t4) was (33.1+/-7.4%) in the hypnosis group and (3.2+/-5.4%) in the control group (P<0.03). In the hypnosis group, highly hypnotic susceptible patients had greater decreases in VAS pain scores (55.0+/-12.3%) when compared to less susceptible patients (17.9+/-6.7%) (P<0.02). After the last treatment there were also statistically significant differences between groups in perceived pain area (MPQ) and the use of weak analgesics (P<0.03). There were no statistically significant changes in SCL or SF36 scores from baseline to t4. In conclusion, hypnosis seems to offer clinically relevant pain relief in PIOP, particularly in highly susceptible patients. However, stress coping skills and unresolved psychological problems need to be included in a comprehensive management plan in order also to address psychological symptoms and quality of life. PMID:17689192

  7. Translating Clinical Findings into Knowledge in Drug Safety Evaluation - Drug Induced Liver Injury Prediction System (DILIps)

    PubMed Central

    Liu, Zhichao; Shi, Qiang; Ding, Don; Kelly, Reagan; Fang, Hong; Tong, Weida

    2011-01-01

    Drug-induced liver injury (DILI) is a significant concern in drug development due to the poor concordance between preclinical and clinical findings of liver toxicity. We hypothesized that the DILI types (hepatotoxic side effects) seen in the clinic can be translated into the development of predictive in silico models for use in the drug discovery phase. We identified 13 hepatotoxic side effects with high accuracy for classifying marketed drugs for their DILI potential. We then developed in silico predictive models for each of these 13 side effects, which were further combined to construct a DILI prediction system (DILIps). The DILIps yielded 60–70% prediction accuracy for three independent validation sets. To enhance the confidence for identification of drugs that cause severe DILI in humans, the “Rule of Three” was developed in DILIps by using a consensus strategy based on 13 models. This gave high positive predictive value (91%) when applied to an external dataset containing 206 drugs from three independent literature datasets. Using the DILIps, we screened all the drugs in DrugBank and investigated their DILI potential in terms of protein targets and therapeutic categories through network modeling. We demonstrated that two therapeutic categories, anti-infectives for systemic use and musculoskeletal system drugs, were enriched for DILI, which is consistent with current knowledge. We also identified protein targets and pathways that are related to drugs that cause DILI by using pathway analysis and co-occurrence text mining. While marketed drugs were the focus of this study, the DILIps has a potential as an evaluation tool to screen and prioritize new drug candidates or chemicals, such as environmental chemicals, to avoid those that might cause liver toxicity. We expect that the methodology can be also applied to other drug safety endpoints, such as renal or cardiovascular toxicity. PMID:22194678

  8. Repaired Supraspinatus Tendons in Clinically Improving Patients: Early Postoperative Findings and Interval Changes on MRI

    PubMed Central

    Lee, Jung Eun; Ryu, Kyung Nam; Rhee, Yong Girl; Yoon, So Hee; Park, So Young; Jin, Wook

    2015-01-01

    Objective To demonstrate and further determine the incidences of repaired supraspinatus tendons on early postoperative magnetic resonance imaging (MRI) findings in clinically improving patients and to evaluate interval changes on follow-up MRIs. Materials and Methods Fifty patients, who showed symptomatic and functional improvements after supraspinatus tendon repair surgery and who underwent postoperative MRI twice with a time interval, were included. The first and the second postoperative MRIs were obtained a mean of 4.4 and 11.5 months after surgery, respectively. The signal intensity (SI) patterns of the repaired tendon on T2-weighted images from the first MRI were classified into three types of heterogeneous high SI with fluid-like bright high foci (type I), heterogeneous high SI without fluid-like bright high foci (type II), and heterogeneous or homogeneous low SI (type III). Interval changes in the SI pattern, tendon thickness, and rotator cuff interval thickness between the two postoperative MRIs were evaluated. Results The SI patterns on the first MRI were type I or II in 45 tendons (90%) and type III in five (10%). SI decreased significantly on the second MRI (p < 0.050). The mean thickness of repaired tendons and rotator cuff intervals also decreased significantly (p < 0.050). Conclusion Repaired supraspinatus tendons exhibited high SI in 90% of clinically improving patients on MRI performed during the early postsurgical period. The increased SI and thickness of the repaired tendon decreased on the later MRI, suggesting a gradual healing process rather than a retear. PMID:25741199

  9. Clinical Findings of Asymptomatic Carpal Tunnel Syndrome in Patients With Diabetes Mellitus

    PubMed Central

    2016-01-01

    Objective To evaluate the clinical differences between patients with diabetes mellitus (DM) who have asymptomatic carpal tunnel syndrome (CTS) and those who have symptomatic CTS. Methods Sixty-three patients with DM were assessed using the Boston Carpal Tunnel Questionnaire (BCTQ), nerve conduction studies (NCS), and ultrasonographic evaluation of the cross-sectional area (CSA) of the median nerve. According to the BCTQ responses and NCS results, the patients were divided into the following three groups: group 1 (n=16), in which NCS results did not reveal CTS; group 2 (n=19), in which NCS results revealed CTS but the group scored 0 points on the BCTQ (asymptomatic); and group 3 (n=28), in which NCS results revealed CTS and the group scored >1 point on the BCTQ (symptomatic). The clinical findings, NCS results, and CSA of the median nerve were compared among the three groups. Results There were no significant differences in age, DM duration, glycated hemoglobin levels, and presence of diabetic polyneuropathy among the three groups. The peak latency of the median sensory nerve action potential was significantly shorter in group 1 than in groups 2 and 3 (p<0.001); however, no difference was observed between groups 2 and 3. CSA of the median nerve at the carpal tunnel in group 2 was significantly larger than that in group 1 and smaller than that in group 3 (p<0.05). Conclusion The results of our study suggest that the symptoms of CTS in patients with diabetes are related to CSA of the median nerve, which is consistent with swelling of the nerve. PMID:27446786

  10. Genetic analysis of clinical findings at health examinations of young Swedish warmblood riding horses

    PubMed Central

    2013-01-01

    Background Soundness is important for welfare and utility of the riding horse. Musculoskeletal disorders are the most common causes of interruption in training and of culling. Despite great importance, heritability of a majority of health traits in horses has previously not been estimated. The objective was to perform genetic analyses of medical and orthopaedic health traits in young riding horses, including estimates of heritability and genetic correlations between health traits, and to reveal possibilities for genetic evaluation of stallions for progeny health. Results The heritability of health traits was estimated using records from 8,238 Swedish warmblood riding horses examined as 4–5 year olds at the Riding Horse Quality Test in 1983–2005. The analyses were performed using multi-trait linear mixed animal models. The heritabilities of palpatory orthopaedic health (PALP), including effusion, swelling, heat, soreness and stiffness/atrophy, and hoof examination results (HOOF), of hoof shape and hoof wall quality, were 0.12 and 0.10, respectively. The genetic variation in these traits resulted in distinct health differences between progeny groups of stallions. The highest heritability among clinical signs of PALP was found for synovial effusions at 0.14. For systemic locations, joint related findings had the highest heritability; 0.13. The heritabilities of medical health and locomotion examination results were low, 0.02 and 0.04, respectively. A genetic improvement of health status has occurred over time but accounts only partly for the decrease in clinical findings of health during the studied period. Conclusions The genetic variation found in PALP and HOOF implies distinct differences between progeny groups. Thus, there are possibilities for improvement of these traits in the population through selection. The weak and non-significant correlation between PALP and HOOF suggests that both traits need to be selected for in practical breeding to improve both

  11. Polysomnographic Findings and Clinical Correlates in Huntington Disease: A Cross-Sectional Cohort Study

    PubMed Central

    Piano, Carla; Losurdo, Anna; Della Marca, Giacomo; Solito, Marcella; Calandra-Buonaura, Giovanna; Provini, Federica; Bentivoglio, Anna Rita; Cortelli, Pietro

    2015-01-01

    , Calandra-Buonaura G, Provini F, Bentivoglio AR, Cortelli P. Polysomnographic findings and clinical correlates in Huntington disease: a cross-sectional cohort study. SLEEP 2015;38(9):1489–1495. PMID:25845698

  12. Comparison of clinical features and polysomnographic findings between men and women with sleep apnea

    PubMed Central

    Kasai, Takatoshi; Tomita, Yasuhiro; Takaya, Hisashi; Kasagi, Satoshi; Kawabata, Masateru; Narui, Koji; Setoguchi, Yasuhiro

    2016-01-01

    Background There is a scarcity of reports comparing gender differences in polysomnographic findings among Asian patients with sleep apnea (SA). In this study, we elucidated gender differences in the clinical features and polysomnographic findings of SA patients in Japan. Methods We conducted a case-matched control study to compare the gender differences. A total of 4,714 patients (4,127 men; 587 women) were matched for age, apnea-hypopnea index (AHI), and body mass index (BMI). The criteria used for sex matching were (I) age ±4 years, (II) AHI ± 4 h of sleep, and (III) BMI ±2 kg/m2. This facilitated the comparison of polysomnography sleep variables in 296 men and 296 women with SA. Results Compared with their male counterparts, female SA patients had a significantly higher rapid eye movement AHI [men: 27.7 (IQR, 14.3-45.2); women: 43.3 (IQR, 25.5-56.6); P<0.001], lower supine AHI [men: 29.7 (IQR, 16.8-49.5); women: 25.0 (IQR, 14.7-39.3); P=0.004], longer total sleep time (TST), and non-rapid eye movement (NREM) sleep stage 3 (N3), %TST [TST in men: 356.3 (IQR, 319.5-392.3); women: 372.0 (IQR, 327.8-404.5); P=0.007; N3, %TST in men: 8.8 (IQR, 3.0-14.6); women: 14.4 (IQR, 8.3-20.4); P<0.001], and better sleep efficiency [men: 80.9 (IQR, 71.0-88.0); women: 83.2 (IQR, 74.5-90.0); P=0.011]. Conclusions This study revealed that women with SA had a significantly longer TST and N3, %TST, which represents deep sleep. Future prospective studies must be conducted together with polysomnography tests including electromyography of pharyngeal muscle expansion and electroencephalography. PMID:26904223

  13. Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.

    PubMed

    Douglas, Michael P; Ladabaum, Uri; Pletcher, Mark J; Marshall, Deborah A; Phillips, Kathryn A

    2016-02-01

    The American College of Medical Genetics and Genomics (ACMG) recommends that mutations in 56 genes for 24 conditions are clinically actionable and should be reported as secondary findings after whole-genome sequencing (WGS). Our aim was to identify published economic evaluations of detecting mutations in these genes among the general population or among targeted/high-risk populations and conditions and identify gaps in knowledge. A targeted PubMed search from 1994 through November 2014 was performed, and we included original, English-language articles reporting cost-effectiveness or a cost-to-utility ratio or net benefits/benefit-cost focused on screening (not treatment) for conditions and genes listed by the ACMG. Articles were screened, classified as targeting a high-risk or general population, and abstracted by two reviewers. General population studies were evaluated for actual cost-effectiveness measures (e.g., incremental cost-effectiveness ratios (ICER)), whereas studies of targeted populations were evaluated for whether at least one scenario proposed was cost-effective (e.g., ICER of ≤$100,000 per life-year or quality-adjusted life-year gained). A total of 607 studies were identified, and 32 relevant studies were included. Identified studies addressed fewer than one-third (7 of 24; 29%) of the ACMG conditions. The cost-effectiveness of screening in the general population was examined for only 2 of 24 conditions (8%). The cost-effectiveness of most genetic findings that the ACMG recommends for return has not been evaluated in economic studies or in the context of screening in the general population. The individual studies do not directly address the cost-effectiveness of WGS. PMID:25996638

  14. Clinical, functional, and surgical findings in chronic bilateral otitis media with effusion in childhood.

    PubMed

    Diacova, Svetlana; McDonald, Thomas J; Ababii, Ion

    2016-08-01

    We conducted a prospective, observational study over a 3-year period to compare the clinical, functional, and surgical findings in children with chronic bilateral otitis media with effusion who underwent one of three different types of treatment. Our study population was made up of 150 patients-79 boys and 71 girls aged 24 to 84 months-who were randomly assigned to one of the three treatment groups of 50 patients each. One group was treated with myringotomy, tympanostomy tube insertion, and adenoidectomy (T+A group); another with a combination of physical conservative treatment and adenoidectomy (P+A group); and the third with physical conservative treatment alone (P-only group). Hearing levels and tympanogram trends were evaluated during a follow-up of 12 months. In the T+A group, we noted a stable normalization of hearing in 95 of the 100 ears. Treatment with the P+A combination resulted in an improvement of hearing in 79 ears, but the improvement was maintained in only 27 ears during 12 months of follow-up. In the group with the P-only regimen, an amelioration of hearing was registered in 76 ears, but it was unstable in all cases. A type A tympanogram was maintained during the follow-up period for 2 ears in the P+A group and for 4 ears in the P-only group. Myringotomy with a detailed examination of the tympanic cavity in all ears with prolonged abnormal audiologic results revealed that types C and B tympanograms, which were found in most ears in the P+A and P-only groups, corresponded to middle ear chronic inflammatory changes (retraction pockets, granulations, adhesions, etc.) Based on our findings, we conclude that the use of a physical conservative treatment with or without an adenoidectomy does not prevent the development of chronic adhesive and purulent otitis media. PMID:27551851

  15. Clinical Findings and Results of Surgical Resection in 19 Cases of Spinal Osteoid Osteoma

    PubMed Central

    Etemadifar, Mohammad Reza

    2015-01-01

    Study Design Descriptive cases series. Purpose To evaluate clinical findings and results of conventional surgery in patients with spinal osteoid osteoma (OO). Overview of Literature OO is a rare benign tumor with spinal involvement rate of about 10%-20%. Methods This descriptive study was conducted on 19 patients (11 males and 8 females with an average age of 19.8 years) with documented histopathological and imaging findings of OO referred to a university hospital. Neurologic symptoms and pain were scored before and after the open surgical excision. Data were analyzed by SPSS ver. 16 software using chi-square and significance level of 0.05. Results The most common complaint was back or neck pain (84.2%) and in 68.4% spinal deformity (mostly scoliosis) shown with an average cobb angle of 21° at presentation. The sites of involvement were 35% in the lumbar, 35% in the thoracic, 25% in the cervical, and 5% in the sacrum. Lamina was the most common site (50%) of involvement with predilection for the right side (p=0.001). All patients were treated by conventional surgical excision with a complete recovery of pain and deformity. No recurrence occurred after a mean follow up of 44.5 months, but 4 of 19 cases instrumented because of induced instability. In one case there were two levels of involvement (C7-T1) simultaneously. Interestingly, 10 out of 19 of our cases belonged to a specific race (Bakhtiari). Conclusions Surgical intra-lesional curettage is potentially an effective method without any recurrence, which can lead to spontaneous scoliosis recovery and pain relief. Race may be a potential risk factor for spinal (OO). PMID:26097653

  16. Athletic groin pain (part 1): a prospective anatomical diagnosis of 382 patients—clinical findings, MRI findings and patient-reported outcome measures at baseline

    PubMed Central

    Falvey, É C; King, E; Kinsella, S; Franklyn-Miller, A

    2016-01-01

    Background Athletic groin pain remains a common field-based team sports time-loss injury. There are few reports of non-surgically managed cohorts with athletic groin pain. Aim To describe clinical presentation/examination, MRI findings and patient-reported outcome (PRO) scores for an athletic groin pain cohort. Methods All patients had a history including demographics, injury duration, sport played and standardised clinical examination. All patients underwent MRI and PRO score to assess recovery. A clinical diagnosis of the injured anatomical structure was made based on these findings. Statistical assessment of the reliability of accepted standard investigations undertaken in making an anatomical diagnosis was performed. Result 382 consecutive athletic groin pain patients, all male, enrolled. Median time in pain at presentation was (IQR) 36 (16–75) weeks. Most (91%) played field-based ball-sports. Injury to the pubic aponeurosis (PA) 240 (62.8%) was the most common diagnosis. This was followed by injuries to the hip in 81 (21.2%) and adductors in 56 (14.7%) cases. The adductor squeeze test (90° hip flexion) was sensitive (85.4%) but not specific for the pubic aponeurosis and adductor pathology (negative likelihood ratio 1.95). Analysed in series, positive MRI findings and tenderness of the pubic aponeurosis had a 92.8% post-test probability. Conclusions In this largest cohort of patients with athletic groin pain combining clinical and MRI diagnostics there was a 63% prevalence of PA injury. The adductor squeeze test was sensitive for athletic groin pain, but not specific individual pathologies. MRI improved diagnostic post-test probability. No hernia or incipient hernia was diagnosed. Clinical trial registration number NCT02437942. PMID:26626272

  17. Clinic Design and Continuity in Internal Medicine Resident Clinics: Findings of the Educational Innovations Project Ambulatory Collaborative

    PubMed Central

    Francis, Maureen D.; Wieland, Mark L.; Drake, Sean; Gwisdalla, Keri Lyn; Julian, Katherine A.; Nabors, Christopher; Pereira, Anne; Rosenblum, Michael; Smith, Amy; Sweet, David; Thomas, Kris; Varney, Andrew; Warm, Eric; Wininger, David; Francis, Mark L.

    2015-01-01

    Background Many internal medicine (IM) programs have reorganized their resident continuity clinics to improve trainees' ambulatory experience. Downstream effects on continuity of care and other clinical and educational metrics are unclear. Methods This multi-institutional, cross-sectional study included 713 IM residents from 12 programs. Continuity was measured using the usual provider of care method (UPC) and the continuity for physician method (PHY). Three clinic models (traditional, block, and combination) were compared using analysis of covariance. Multivariable linear regression analysis was used to analyze the effect of practice metrics and clinic model on continuity. Results UPC, reflecting continuity from the patient perspective, was significantly different, and was highest in the block model, midrange in combination model, and lowest in the traditional model programs. PHY, reflecting continuity from the perspective of the resident provider, was significantly lower in the block model than in combination and traditional programs. Panel size, ambulatory workload, utilization, number of clinics attended in the study period, and clinic model together accounted for 62% of the variation found in UPC and 26% of the variation found in PHY. Conclusions Clinic model appeared to have a significant effect on continuity measured from both the patient and resident perspectives. Continuity requires balance between provider availability and demand for services. Optimizing this balance to maximize resident education, and the health of the population served, will require consideration of relevant local factors and priorities in addition to the clinic model. PMID:26217420

  18. Classics Online.

    ERIC Educational Resources Information Center

    Clayman, Dee L.

    1995-01-01

    Appraises several databases devoted to classical literature. Thesaurus Linguae Graecae (TLG) contains the entire extant corpus of ancient Greek literature, including works on lexicography and historiography, extending into the 15th century. Other works awaiting completion are the Database of Classical Bibliography and a CD-ROM pictorial dictionary…

  19. Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

    PubMed

    Funghini, S; Thusberg, J; Spada, M; Gasperini, S; Parini, R; Ventura, L; Meli, C; De Cosmo, L; Sibilio, M; Mooney, S D; Guerrini, R; Donati, M A; Morrone, A

    2012-02-10

    Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder, potentially leading to lethal hyperammonemia. Based on the age of onset, there are two distinct phenotypes: neonatal and late form. The CPS1 enzyme, located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa, is encoded by the CPS1 gene. At present more than 220 clear-cut genetic lesions leading to CPS1D have been reported. As most of them are private mutations diagnosis is complicated. Here we report an overview of the main clinical findings and biochemical and molecular data of 13 CPS1D Italian patients. In two of them, one with the neonatal form and one with the late form, cadaveric auxiliary liver transplant was performed. Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature. Seven of the newly identified mutations were missense/nonsense changes. In order to study their protein level effects, we performed an in silico analysis whose results indicate that the amino acid substitutions occur at evolutionary conserved positions and affect residues necessary for enzyme stability or function. PMID:22173106

  20. Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings.

    PubMed

    Mizukami, Keijiro; Shoubudani, Tomoaki; Nishimoto, Seira; Kawamura, Ryuta; Yabuki, Akira; Yamato, Osamu

    2012-06-01

    Trapped neutrophil syndrome (TNS) is an autosomal recessive inherited neutropenia known in Border Collies since the 1990's. Recently, the causative mutation has been identified in the canine VPS13B gene and a DNA-based diagnosis has now become available. The present paper describes clinical and clinico-pathologic findings in a Border Collie with TNS that was molecularly diagnosed for the first time in Japan. In a 10-week-old male Border Collie with microgenesis and symptoms related to recurrent infections, a hematological examination revealed severe leukopenia due to neutropenia, suggesting the dog to be affected by inherited neutropenic immunodeficiency. Direct DNA sequencing demonstrated that the dog was homozygous for the causative mutation of TNS and both its parents were heterozygous carriers. In addition, a simple and rapid polymerase chain reaction-based length polymorphism analysis coupled with microchip electrophoresis was developed for the genotyping of TNS. This assay could discriminate clearly all genotypes, suggesting that it was suitable for both individual diagnosis and large-scale surveys for prevention. PMID:22240985

  1. Colorectal Cancer Staging Using Three Clustering Methods Based on Preoperative Clinical Findings.

    PubMed

    Pourahmad, Saeedeh; Pourhashemi, Soudabeh; Mohammadianpanah, Mohammad

    2016-01-01

    Determination of the colorectal cancer stage is possible only after surgery based on pathology results. However, sometimes this may prove impossible. The aim of the present study was to determine colorectal cancer stage using three clustering methods based on preoperative clinical findings. All patients referred to the Colorectal Research Center of Shiraz University of Medical Sciences for colorectal cancer surgery during 2006 to 2014 were enrolled in the study. Accordingly, 117 cases participated. Three clustering algorithms were utilized including k-means, hierarchical and fuzzy c-means clustering methods. External validity measures such as sensitivity, specificity and accuracy were used for evaluation of the methods. The results revealed maximum accuracy and sensitivity values for the hierarchical and a maximum specificity value for the fuzzy c-means clustering methods. Furthermore, according to the internal validity measures for the present data set, the optimal number of clusters was two (silhouette coefficient) and the fuzzy c-means algorithm was more appropriate than the k-means clustering approach by increasing the number of clusters. PMID:26925686

  2. X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings.

    PubMed

    Cremonesi, Ilaria; Nucci, Cesare; D'Alessandro, Giovanni; Alkhamis, Nadia; Marchionni, Silvia; Piana, Gabriela

    2014-01-01

    X-linked hypophosphatemia (XLH) is a genetic disorder related to alterations in bones and teeth formation, due to low levels of phosphate in blood. Oral findings in XLH have been enamel and dentine abnormalities, high pulp horns, large pulp chambers, and some cases of periapical abscesses related to teeth without caries or traumatic injuries. The aim of our study was to assess the presence of enamel alterations, such as microclefts and/or structure defects in patients with XLH and give guidelines of prevention of XLH dental complications. History taking, oral clinical and radiological examination in 10 young patients affected by XLH (average age of 9) and in 6 patients without XLH (average age of 8). Impressions were performed on the vestibular surfaces of teeth in order to obtain replicas. The replicas were analyzed using scanning electron microscope (SEM) and compared to replicas of control group. The images of replicas of XLH patients showed deep microclefts and irregular enamel surface structure compared to replicas of control group. The replica of a patient with spontaneous periapical abscesses showed numerous enamel crater-shaped depressions and deep microcleavages penetrating into the enamel thickness. In absence of caries or fractures, the abscesses pathogenesis may be related to microcleavages of the enamel and dentin, which allow bacterial invasion of the pulp. There could be a relationship between XLH disease and enamel abnormalities. PMID:24677288

  3. Targeting FAK in human cancer: from finding to first clinical trials.

    PubMed

    Golubovskaya, Vita M

    2014-01-01

    It is twenty years since Focal Adhesion Kinase (FAK) was found to be overexpressed in many types of human cancer. FAK plays an important role in adhesion, spreading, motility, invasion, metastasis, survival, angiogenesis, and recently has been found to play an important role as well in epithelial to mesenchymal transition (EMT), cancer stem cells and tumor microenvironment. FAK has kinase-dependent and kinase independent scaffolding, cytoplasmic and nuclear functions. Several years ago FAK was proposed as a potential therapeutic target; the first clinical trials were just reported, and they supported further studies of FAK as a promising therapeutic target. This review discusses the main functions of FAK in cancer, and specifically focuses on recent novel findings on the role of FAK in cancer stem cells, microenvironment, epithelial-to-mesenchymal transition, invasion, metastasis, and also highlight new approaches of targeting FAK and critically discuss challenges that lie ahead for its targeted therapeutics. The review provides a summary of translational approaches of FAK-targeted and combination therapies and outline perspectives and future directions of FAK research. PMID:24389213

  4. Clinical, laboratory and pathological findings in sub-acute monensin intoxication in goats

    PubMed Central

    Deljou, Mahdi; Aslani, Mohammad Reza; Mohri, Mehrdad; Movassaghi, Ahmad Reza; Heidarpour, Mohammad

    2014-01-01

    Toxic effects of monensin, a polyether antibiotic mainly used as a coccidiostat, have been described in a wide range of animals. The present study was performed to investigate the toxic effects of monensin in goats. Seven adult goats were administered sodium monensin, 13.5 mg kg-1, daily for five consecutive days via gastric gavage. Monensin toxicity was evaluated by clinical signs, serum biochemistry and pathology. Monensin exposure caused diarrhea, tachycardia and reduction in ruminal movements and body temperature. Significant increase of creatine kinase, lactate dehydrogenase, aspartate aminotransferase, total bilirubin, blood urea nitrogen, creatinine and erythrocyte superoxide dismutase were observed in monensin exposed goats. Reduction of erythrocyte glutathione peroxidase and elevation of serum malondialdehyde and troponin I were inconsistent. In necropsy, there were effusions in body cavities, vacuolar degeneration and coagulative necrosis in cardiac and skeletal muscles and renal tubular necrosis. These findings suggested that monensin intoxication in goats leads to cardiac, skeletal and renal damage and a wide range of biochemical abnormalities. Oxidative stress may be involved in the pathogenesis of monensin poisoning. PMID:25568713

  5. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

    PubMed

    Woods, C Geoffrey; Bond, Jacquelyn; Enard, Wolfgang

    2005-05-01

    Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. The microcephaly is the consequence of a small but architecturally normal brain, and it is the cerebral cortex that shows the greatest size reduction. There are at least seven MCPH loci, and four of the genes have been identified: MCPH1, encoding Microcephalin; MCPH3, encoding CDK5RAP2; MCPH5, encoding ASPM; and MCPH6, encoding CENPJ. These findings are starting to have an impact on the clinical management of families affected with MCPH. Present data suggest that MCPH is the consequence of deficient neurogenesis within the neurogenic epithelium. Evolutionary interest in MCPH has been sparked by the suggestion that changes in the MCPH genes might also be responsible for the increase in brain size during human evolution. Indeed, evolutionary analyses of Microcephalin and ASPM reveal evidence for positive selection during human and great ape evolution. So an understanding of this rare genetic disorder may offer us significant insights into neurogenic mitosis and the evolution of the most striking differences between us and our closest living relatives: brain size and cognitive ability. PMID:15806441

  6. The Role of Serotonin (5-HT) in Behavioral Control: Findings from Animal Research and Clinical Implications.

    PubMed

    Sanchez, C L; Biskup, C S; Herpertz, S; Gaber, T J; Kuhn, C M; Hood, S H; Zepf, F D

    2015-09-01

    The neurotransmitters serotonin and dopamine both have a critical role in the underlying neurobiology of different behaviors. With focus on the interplay between dopamine and serotonin, it has been proposed that dopamine biases behavior towards habitual responding, and with serotonin offsetting this phenomenon and directing the balance toward more flexible, goal-directed responding. The present focus paper stands in close relationship to the publication by Worbe et al. (2015), which deals with the effects of acute tryptophan depletion, a neurodietary physiological method to decrease central nervous serotonin synthesis in humans for a short period of time, on the balance between hypothetical goal-directed and habitual systems. In that research, acute tryptophan depletion challenge administration and a following short-term reduction in central nervous serotonin synthesis were associated with a shift of behavioral performance towards habitual responding, providing further evidence that central nervous serotonin function modulates the balance between goal-directed and stimulus-response habitual systems of behavioral control. In the present focus paper, we discuss the findings by Worbe and colleagues in light of animal experiments as well as clinical implications and discuss potential future avenues for related research. PMID:25991656

  7. Methamphetamine use: a comprehensive review of molecular, preclinical and clinical findings.

    PubMed

    Panenka, William J; Procyshyn, Ric M; Lecomte, Tania; MacEwan, G William; Flynn, Sean W; Honer, William G; Barr, Alasdair M

    2013-05-01

    Methamphetamine (MA) is a highly addictive psychostimulant drug that principally affects the monoamine neurotransmitter systems of the brain and results in feelings of alertness, increased energy and euphoria. The drug is particularly popular with young adults, due to its wide availability, relatively low cost, and long duration of psychoactive effects. Extended use of MA is associated with many health problems that are not limited to the central nervous system, and contribute to increased morbidity and mortality in drug users. Numerous studies, using complementary techniques, have provided evidence that chronic MA use is associated with substantial neurotoxicity and cognitive impairment. These pathological effects of the drug, combined with the addictive properties of MA, contribute to a spectrum of psychosocial issues that include medical and legal problems, at-risk behaviors and high societal costs, such as public health consequences, loss of family support and housing instability. Treatment options include pharmacological, psychological or combination therapies. The present review summarizes the key findings in the literature spanning from molecular through to clinical effects. PMID:23273775

  8. Classical integrability

    NASA Astrophysics Data System (ADS)

    Torrielli, Alessandro

    2016-08-01

    We review some essential aspects of classically integrable systems. The detailed outline of the sections consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schrödinger model, principal chiral field); 4. Features of classical r-matrices: Belavin–Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel’fand–Levitan–Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  9. Clinical characteristics and distinctiveness of DSM-5 eating disorder diagnoses: findings from a large naturalistic clinical database

    PubMed Central

    2013-01-01

    Background DSM-IV eating disorder (ED) diagnoses have been criticized for lack of clinical utility, diagnostic instability, and over-inclusiveness of the residual category “ED not otherwise specified” (EDNOS). Revisions made in DSM-5 attempt to generate a more scientifically valid and clinically relevant system of ED classification. The aim with the present study was to examine clinical characteristics and distinctiveness of the new DSM-5 ED diagnoses, especially concerning purging disorder (PD). Methods Using a large naturalistic Swedish ED database, 2233 adult women were diagnosed using DSM-5. Initial and 1-year follow-up psychopathology data were analyzed. Measures included the Eating Disorder Examination Questionnaire, Structural Eating Disorder Interview, Clinical Impairment Assessment, Structural Analysis of Social Behavior, Comprehensive Psychiatric Rating Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders. Results Few meaningful differences emerged between anorexia nervosa binge/purge subtype (ANB/P), PD, and bulimia nervosa (BN). Unspecified Feeding and Eating Disorders (UFED) showed significantly less severity compared to other groups. Conclusions PD does not appear to constitute a distinct diagnosis, the distinction between atypical AN and PD requires clarification, and minimum inclusion criteria for UFED are needed. Further sub-classification is unlikely to improve clinical utility. Instead, better delineation of commonalities is important. PMID:24999410

  10. [New electrophysiological findings on the incidence of brain involvement in clinically and neurologically asymptomatic HIV infections].

    PubMed

    Arendt, G; Hefter, H; Elsing, C; Neuen-Jakob, E; Strohmeyer, G; Freund, H J

    1989-12-01

    Motor (postural tremor of the outstretched hands, most rapid voluntary alternating index finger movements and rise times of most rapid voluntary isometric index finger extensions) and psychometric tests (multiple choice vocabulary test - form b, syndrome short test, the German version of the standard progressive matrices - Raven, and the psychic and somatic findings according to the AMDP-system) as well as MRI-Scans were analysed in 100 HIV-infected patients of all stages according to the actual CDC-classification, but without any central-nervous or psychic deficit. Patients with drug, alcohol or tranquilizer abuse, opportunistic, cerebral infections or fever were excluded from the study. Tremor-peak-frequencies and reaction times did not show any significant difference to an age- and sex-matched control group; the other motor parameters revealed significant slowing in the patient group and a worsening with the CDC-stages. MRI-scans of all the patients were normal. The psychometric tests did not show significant alterations on a group statistical level, especially not in the depression scales. Morphologically, the motor performances of the HIV-infected patients resembled those of patients with basal ganglia diseases (M. Huntington, M. Wilson, M. Parkinson). Correspondingly, in some cases of clinically demented HIV-positive patients, MRI-scans showed lesions in the basal ganglia. It can be concluded, that there is an early subclinical central-nervous system affection in HIV-infected patients, especially of the basal ganglia, detectable with appropriate motor function tests sometimes considerably preceeding structural deficits seen later in the course of the disease in MRI-scans. PMID:2514087

  11. Female Pathological Gamblers--A Critical Review of the Clinical Findings

    ERIC Educational Resources Information Center

    Wenzel, Hanne Gro; Dahl, Alv A.

    2009-01-01

    Recent evidence indicates that more and more women gamble and develop gambling problems and pathological gambling (PG). Research has further indicated that female and male PGs differ in their clinical characteristics. The aim of this study is to do a critical review of the literature concerning clinical characteristics of female pathological…

  12. [Chronic dizziness in elderly people: its clinical characteristics and magneto-encephalographic findings].

    PubMed

    Naritomi, Hiroaki

    2008-06-01

    Many elderly people complain dizziness which may continue occasionally for months or years. According to epidemiological studies, 25-29% of subjects with more than 60 years of age have the experience of dizziness. Dizziness occurs most commonly during head positional changes or walking. Clinical studies have indicated that causes of dizziness are nonspecific and multi-factorial; cerebrovascular diseases, cervical spondylosis, depressive state, poor vision, orthostatic hypotension, whiplash injury, or low cerebrospinal fluid syndrome may play a role in the development of dizziness. Patients with dizziness commonly have neck/shoulder pain, insomnia, left-right imbalance of visual acuity, scoliosis, white matter lesions on head MRI. Little, however, has yet been known as to how these symptoms and radiological findings are related to mechanisms of dizziness. During the last several years, we performed cerebral functional studies using auditory-evoked magneto-encephalography (MEG) in elderly people with chronic dizziness. Two types of functional abnormalities were found in dizziness patients. One is a rotational abnormality of MEG signals at the temporal cortex (Type A) which can be detected by current arrow mapping analysis. This abnormality is similar to that detected by non-evoked MEG in temporal lobe epilepsy patients. In patients with Type A abnormality, administration of anticonvulsants brought about dramatic improvement of dizziness in association with disappearance of rotational abnormalities. The other is abnormal prolongation of interhemispheric neural conduction time (INCT) between the left and right temporal cortices (Type B) which can be estimated from the difference of left and right N100 m peak latencies. The INCT was found to be prolonged correlating with the grade of white matter lesions on MRI. The INCT also seems to be prolonged by lack of sleep. Patients with Type B abnormality commonly have the asymmetry of body, such as left-right imbalance of

  13. Finding Cervical Cancer Symptoms in Swedish Clinical Text using a Machine Learning Approach and NegEx

    PubMed Central

    Weegar, Rebecka; Kvist, Maria; Sundström, Karin; Brunak, Søren; Dalianis, Hercules

    2015-01-01

    Detection of early symptoms in cervical cancer is crucial for early treatment and survival. To find symptoms of cervical cancer in clinical text, Named Entity Recognition is needed. In this paper the Clinical Entity Finder, a machine-learning tool trained on annotated clinical text from a Swedish internal medicine emergency unit, is evaluated on cervical cancer records. The Clinical Entity Finder identifies entities of the types body part, finding and disorder and is extended with negation detection using the rule-based tool NegEx, to distinguish between negated and non-negated entities. To measure the performance of the tools on this new domain, two physicians annotated a set of clinical notes from the health records of cervical cancer patients. The inter-annotator agreement for finding, disorder and body part obtained an average F-score of 0.677 and the Clinical Entity Finder extended with NegEx had an average F-score of 0.667. PMID:26958270

  14. Automatic recognition of disorders, findings, pharmaceuticals and body structures from clinical text: an annotation and machine learning study.

    PubMed

    Skeppstedt, Maria; Kvist, Maria; Nilsson, Gunnar H; Dalianis, Hercules

    2014-06-01

    Automatic recognition of clinical entities in the narrative text of health records is useful for constructing applications for documentation of patient care, as well as for secondary usage in the form of medical knowledge extraction. There are a number of named entity recognition studies on English clinical text, but less work has been carried out on clinical text in other languages. This study was performed on Swedish health records, and focused on four entities that are highly relevant for constructing a patient overview and for medical hypothesis generation, namely the entities: Disorder, Finding, Pharmaceutical Drug and Body Structure. The study had two aims: to explore how well named entity recognition methods previously applied to English clinical text perform on similar texts written in Swedish; and to evaluate whether it is meaningful to divide the more general category Medical Problem, which has been used in a number of previous studies, into the two more granular entities, Disorder and Finding. Clinical notes from a Swedish internal medicine emergency unit were annotated for the four selected entity categories, and the inter-annotator agreement between two pairs of annotators was measured, resulting in an average F-score of 0.79 for Disorder, 0.66 for Finding, 0.90 for Pharmaceutical Drug and 0.80 for Body Structure. A subset of the developed corpus was thereafter used for finding suitable features for training a conditional random fields model. Finally, a new model was trained on this subset, using the best features and settings, and its ability to generalise to held-out data was evaluated. This final model obtained an F-score of 0.81 for Disorder, 0.69 for Finding, 0.88 for Pharmaceutical Drug, 0.85 for Body Structure and 0.78 for the combined category Disorder+Finding. The obtained results, which are in line with or slightly lower than those for similar studies on English clinical text, many of them conducted using a larger training data set, show that

  15. Clinical diagnosis of symptomatic midfoot osteoarthritis: cross-sectional findings from the Clinical Assessment Study of the Foot

    PubMed Central

    Thomas, M.J.; Roddy, E.; Rathod, T.; Marshall, M.; Moore, A.; Menz, H.B.; Peat, G.

    2015-01-01

    Summary Objective To derive a multivariable diagnostic model for symptomatic midfoot osteoarthritis (OA). Methods Information on potential risk factors and clinical manifestations of symptomatic midfoot OA was collected using a health survey and standardised clinical examination of a population-based sample of 274 adults aged ≥50 years with midfoot pain. Following univariable analysis, random intercept multi-level logistic regression modelling that accounted for clustered data was used to identify the presence of midfoot OA independently scored on plain radiographs (dorso-plantar and lateral views), and defined as a score of ≥2 for osteophytes or joint space narrowing in at least one of four joints (first and second cuneometatarsal, navicular-first cuneiform and talonavicular joints). Model performance was summarised using the calibration slope and area under the curve (AUC). Internal validation and sensitivity analyses explored model over-fitting and certain assumptions. Results Compared to persons with midfoot pain only, symptomatic midfoot OA was associated with measures of static foot posture and range-of-motion at subtalar and ankle joints. Arch Index was the only retained clinical variable in a model containing age, gender and body mass index. The final model was poorly calibrated (calibration slope, 0.64, 95% CI: 0.39, 0.89) and discrimination was fair-to-poor (AUC, 0.64, 95% CI: 0.58, 0.70). Final model sensitivity and specificity were 29.9% (95% CI: 22.7, 38.0) and 87.5% (95% CI: 82.9, 91.3), respectively. Bootstrapping revealed the model to be over-optimistic and performance was not improved using continuous predictors. Conclusions Brief clinical assessments provided only marginal information for identifying the presence of radiographic midfoot OA among community-dwelling persons with midfoot pain. PMID:26093213

  16. A socio-psychological investigation into limitations and incentives concerning reporting a clinically suspect situation aimed at improving early detection of classical swine fever outbreaks.

    PubMed

    Elbers, A R W; Gorgievski-Duijvesteijn, M J; van der Velden, P G; Loeffen, W L A; Zarafshani, K

    2010-04-21

    The aim of this study was to identify limitations and incentives in reporting clinically suspect situations, possibly caused by classical swine fever (CSF), to veterinary authorities with the ultimate aim to facilitate early detection of CSF outbreaks. Focus group sessions were held with policy makers from the veterinary authorities, and representatives of veterinary practitioners and pig farmer unions. Personal interviews with a small group of pig farmers and practitioners were held to check limitations raised and solutions proposed during the focus group sessions. An electronic questionnaire was mailed to pig farmers and practitioners to investigate perceptions and attitudes with respect to clinically suspect situations possibly caused by CSF. After triangulating the responses of veterinary authorities, veterinary practitioners and farmers, six themes emerged across all groups: (1) lack of knowledge on the early signs of CSF; (2) guilt, shame and prejudice; (3) negative opinion on control measures; (4) dissatisfaction with post-reporting procedures; (5) lack of trust in government bodies; (6) uncertainty and lack of transparency of reporting procedures. The following solutions to facilitate early detection of CSF were put forward: (a) development of a clinical decision-support system for vets and farmers, in order to get faster diagnosis and detection of CSF; (b) possibility to submit blood samples directly to the reference laboratory to exclude CSF in a clinical situation with non-specific clinical signs, without isolation of the farm and free of charge for the individual farmer; (c) decrease social and economic consequences of reporting CSF, for example by improving the public opinion on first reports; (d) better schooling of veterinary officers to deal with emotions and insecurity of farmers in the process after reporting; (e) better communication of rules and regulations, where to report, what will happen next; (f) up-to-date website with information and

  17. [Gonadal dysgenesis--possible variation of clinical, hormonal, cytogenetic and histologic findings].

    PubMed

    Schwanitz, G; Tietze, H U; Zerres, K; Schaaff, A

    1983-01-01

    Errors of gonadal differentiation are influencing the sex differentiation on the whole in man. Since the methods in clinical cytogenetics improved, an exact chromosome investigation became possible, which enables the necessary therapy, the appropriate medical and psychological care, and the genetic counselling. Regarding our own observations, general surveys on the frequencies of the different syndromes and on the occurrence of the single clinical symptoms are given. PMID:6656171

  18. Frequency and Clinical Significance of Previously Undetected Incidental Findings Detected on Computed Tomography Simulation Scans for Breast Cancer Patients

    SciTech Connect

    Nakamura, Naoki; Tsunoda, Hiroko; Takahashi, Osamu; Kikuchi, Mari; Honda, Satoshi; Shikama, Naoto; Akahane, Keiko; Sekiguchi, Kenji

    2012-11-01

    Purpose: To determine the frequency and clinical significance of previously undetected incidental findings found on computed tomography (CT) simulation images for breast cancer patients. Methods and Materials: All CT simulation images were first interpreted prospectively by radiation oncologists and then double-checked by diagnostic radiologists. The official reports of CT simulation images for 881 consecutive postoperative breast cancer patients from 2009 to 2010 were retrospectively reviewed. Potentially important incidental findings (PIIFs) were defined as any previously undetected benign or malignancy-related findings requiring further medical follow-up or investigation. For all patients in whom a PIIF was detected, we reviewed the clinical records to determine the clinical significance of the PIIF. If the findings from the additional studies prompted by a PIIF required a change in management, the PIIF was also recorded as a clinically important incidental finding (CIIF). Results: There were a total of 57 (6%) PIIFs. The 57 patients in whom a PIIF was detected were followed for a median of 17 months (range, 3-26). Six cases of CIIFs (0.7% of total) were detected. Of the six CIIFs, three (50%) cases had not been noted by the radiation oncologist until the diagnostic radiologist detected the finding. On multivariate analysis, previous CT examination was an independent predictor for PIIF (p = 0.04). Patients who had not previously received chest CT examinations within 1 year had a statistically significantly higher risk of PIIF than those who had received CT examinations within 6 months (odds ratio, 3.54; 95% confidence interval, 1.32-9.50; p = 0.01). Conclusions: The rate of incidental findings prompting a change in management was low. However, radiation oncologists appear to have some difficulty in detecting incidental findings that require a change in management. Considering cost, it may be reasonable that routine interpretations are given to those who have not

  19. Isolated bilateral mandibular angle fractures: an extensive literature review of the rare clinical phenomenon with presentation of a classical clinical model.

    PubMed

    Elavenil, P; Mohanavalli, S; Sasikala, B; Prasanna, R Ashok; Krishnakumar, Raja V B

    2015-06-01

    Bilateral angle fractures are a rare clinical phenomenon in contrast to the incidence of unilateral angle fractures. However, the rarity has garnered less attention in spite of the uniqueness of fracture pattern and distinctive biomechanics. This article is a detailed review on the etiology, clinical presentation, and management of bilateral angle fractures with the presentation of an interesting case. The bilateral angle fracture reported is a untreated, malunited fracture representing an ideal clinical model to study its biomechanics. The clinical features were anterior open bite, increased facial height, and temporomandibular joint tenderness. The management included osteotomy at the malunion and miniplate osteosynthesis. Bilateral angle fracture presents mandible in three independent fragments (left angle, right angle, and intermediate corpus), each with strong muscles acting in different vectors. This makes the fracture vulnerable to severe displacing forces and unfavorable to achieve the optimal reduction, stability, and healing. This necessitates comprehension of the biomechanical forces involved to avoid malunion following fixation. The article details the complex biomechanics of mandibular angle and its clinical implications in the rare event of bilateral angle fractures. It describes the necessity for a systematic approach and ideal osteosynthesis principles to achieve maximal treatment outcomes and minimal complications. PMID:26000089

  20. Isolated Bilateral Mandibular Angle Fractures: An Extensive Literature Review of the Rare Clinical Phenomenon with Presentation of a Classical Clinical Model

    PubMed Central

    Elavenil, P.; Mohanavalli, S.; Sasikala, B.; Prasanna, R. Ashok; Krishnakumar, Raja V. B.

    2014-01-01

    Bilateral angle fractures are a rare clinical phenomenon in contrast to the incidence of unilateral angle fractures. However, the rarity has garnered less attention in spite of the uniqueness of fracture pattern and distinctive biomechanics. This article is a detailed review on the etiology, clinical presentation, and management of bilateral angle fractures with the presentation of an interesting case. The bilateral angle fracture reported is a untreated, malunited fracture representing an ideal clinical model to study its biomechanics. The clinical features were anterior open bite, increased facial height, and temporomandibular joint tenderness. The management included osteotomy at the malunion and miniplate osteosynthesis. Bilateral angle fracture presents mandible in three independent fragments (left angle, right angle, and intermediate corpus), each with strong muscles acting in different vectors. This makes the fracture vulnerable to severe displacing forces and unfavorable to achieve the optimal reduction, stability, and healing. This necessitates comprehension of the biomechanical forces involved to avoid malunion following fixation. The article details the complex biomechanics of mandibular angle and its clinical implications in the rare event of bilateral angle fractures. It describes the necessity for a systematic approach and ideal osteosynthesis principles to achieve maximal treatment outcomes and minimal complications. PMID:26000089

  1. [Verrucous pastern dermatitis syndrome in heavy draught horses. Part II: Clinical findings].

    PubMed

    Geburek, F; Deegen, E; Hewicker-Trautwein, M; Ohnesorge, B

    2005-07-01

    In the present field study the skin of the feet of 37 heavy draught horses of different breeds showing verrucous pastern dermatitis was examined clinically. Included were the degree of severity of the disease and the prevalence of anatomically normal structures associated with the skin: fetlock tufts of hair ("feathering"), ergots, chestnuts, bulges in the pastern region, cannon circumference. Each horse was examined for Chorioptes sp. skin mites. Information was also collected on the development of the skin alterations and housing conditions and feeding. These individual data were correlated with the clinical degree of severity of verrucous pastern dermatitis, which was evaluated using a numerical code (scoring system). In addition, punch biopsies were taken from the diseased skin of the feet and from healthy skin of the neck for comparative patho-histological examination (see Part III). Verrucous pastern dermatitis is a chronic disease which can be divided into four groups: scaling (group I), hyperkeratotic and hyperplastic plaque-like lesions (group II), tuberous skin masses (group III), and verrucous skin lesions with rugged surfaces (group IV). No correlation was found between the clinical degree of severity of the skin lesions and sex, breed, amount of work, use of stallions for breeding, grooming condition of the hair, white markings in the foot region, or Chorioptes sp. infestation. In regard to feeding it was found that the amount of maize and oats fed had some influence on the clinical degree of severity. Statistical analysis revealed a significant correlation between the clinical degree of severity and the age, the grooming condition of the hooves, and the mean cannon circumference. The prevalence of fetlock tufts of hair, chestnuts, ergots, and anatomically normal bulges in the pastern region also increased significantly with the clinical degree of severity. Furthermore the study revealed that the clinical degree of severity depended on the hygienic

  2. Clinical characteristics and intravascular ultrasound findings of culprit lesions in elderly patients with acute coronary syndrome.

    PubMed

    Ogura, Yuji; Tsujita, Kenichi; Shimomura, Hideki; Yamanaga, Kenshi; Komura, Naohiro; Miyazaki, Takashi; Ishii, Masanobu; Tabata, Noriaki; Akasaka, Tomonori; Arima, Yuichiro; Sakamoto, Kenji; Kojima, Sunao; Nakamura, Sunao; Kaikita, Koichi; Hokimoto, Seiji; Ogawa, Hisao

    2016-03-01

    Acute coronary syndrome (ACS) is one of the main causes of cardiovascular death. According to rapid aging of society, the peak age of ACS onset has grown older globally. Despite growing recognition of the necessity to build the ACS prevention strategy in the elderly, patients background and culprit lesion morphology of these elderly ACS patients have not been well studied. We sought to assess the clinical characteristics and intravascular ultrasound (IVUS) findings of the culprit lesions in elderly ACS patients. One-hundred and fifty-eight consecutive ACS patients whose culprit lesions imaged by pre-intervention IVUS were divided into two groups based on the age of onset: elderly [E] group (≥75 years, n = 65) and non-elderly [NE] group (<75 years, n = 93). As compared with NE group, hemoglobin (12.7 ± 2.0 g/dL vs. 13.7 ± 1.6 g/dL, p = 0.001), estimated glomerular filtration rate (62.5 ± 22.5 mL/min/1.73 m(2) vs. 75.5 ± 20.5 mL/min/1.73 m(2), p = 0.0001), and body mass index (22.9 ± 3.4 kg/m(2) vs. 24.5 ± 3.4 kg/m(2), p = 0.003) were significantly lower, and comorbid malignancy was more common (20.0 vs 6.5 %, p = 0.01) in E group. Although whole culprit segment was not positively remodeled (mean vessel area was 15.2 ± 5.6 mm(3)/mm vs. 16.2 ± 5.1 mm(3)/mm, p = 0.16) in E group, at maximum external elastic membrane site of the culprit lesion, lumen area was smaller (5.5 ± 3.2 mm(2) vs. 6.7 ± 3.5 mm(2), p = 0.04), and plaque burden tended to be more abundant (70 ± 13 vs. 66 ± 13 %, p = 0.08). Interestingly, echo attenuation arc of culprit attenuated plaque was significantly greater in E group than in NE group (157 ± 83° vs. 118 ± 60°, p = 0.01). In conclusion, extracardiac comorbidity was more common in elderly ACS patients, and their culprit coronary lesions were still rupture prone, and "vulnerable." PMID:25523892

  3. The IMSI Procedure Improves Laboratory and Clinical Outcomes Without Compromising the Aneuploidy Rate When Compared to the Classical ICSI Procedure

    PubMed Central

    Luna, Daniel; Hilario, Roly; Dueñas-Chacón, Julio; Romero, Rocío; Zavala, Patricia; Villegas, Lucy; García-Ferreyra, Javier

    2015-01-01

    PURPOSE The intracytoplasmic morphologically selected sperm injection (IMSI) procedure has been associated with better laboratory and clinical outcomes in assisted reproduction technologies. Less information is available regarding the relationship between embryo aneuploidy rate and the IMSI procedure. The aim of this study is to compare the clinical outcomes and chromosomal status of IMSI-derived embryos with those obtained from intracytoplasmic sperm injection (ICSI) in order to establish a clearer view of the benefits of IMSI in infertile patients. METHODS We retrospectively analyzed a total of 11 cycles of IMSI and 20 cycles of ICSI with preimplantation genetic diagnosis. The fertilization rate, cleavage rate, embryo quality, blastocyst development, aneuploidy rate, pregnancy rate, implantation rate, and miscarriage rate were compared between the groups. RESULTS Similar rates of fertilization (70% and 73%), cleavage (98% and 100%), and aneuploidy (76.9% and 70.9%) were observed in the IMSI and ICSI groups, respectively. The IMSI group had significantly more good quality embryos at day 3 (95% vs 73%), higher blastocyst development rates (33% vs 19%), and greater number of hatching blastocysts (43% vs 28%), cycles with at least one blastocyst at day 5 (55% vs 35%), and blastocysts with good trophoectoderm morphology (21% vs 6%) compared with the ICSI group (P < 0.001). Significantly higher implantation rates were observed in the IMSI group compared with the ICSI group (57% vs 27%; P < 0.05). Pregnancy and miscarriage rates were similar in both groups (80% vs 50% and 0% vs 33%, respectively). CONCLUSION The IMSI procedure significantly improves the embryo quality/development by increasing the implantation rates without affecting the chromosomal status of embryos. There is a tendency for the IMSI procedure to enhance the pregnancy rates and lower the miscarriage rates when compared with ICSI. PMID:26609251

  4. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

    PubMed Central

    Berg, Jonathan S.; Foreman, Ann Katherine M.; O'Daniel, Julianne M.; Booker, Jessica K.; Boshe, Lacey; Carey, Timothy; Crooks, Kristy R.; Jensen, Brian C.; Juengst, Eric T.; Lee, Kristy; Nelson, Daniel K.; Powell, Bradford C.; Powell, Cynthia M.; Roche, Myra I.; Skrzynia, Cecile; Strande, Natasha T.; Weck, Karen E.; Wilhelmsen, Kirk C.; Evans, James P.

    2016-01-01

    Purpose: As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there is debate about how they should be handled. The clinical actionability of such findings varies, necessitating standardized frameworks for a priori decision making about their analysis. Genet Med 18 5, 467–475. Methods: We established a semiquantitative metric to assess five elements of actionability: severity and likelihood of the disease outcome, efficacy and burden of intervention, and knowledge base, with a total score from 0 to 15. Genet Med 18 5, 467–475. Results: The semiquantitative metric was applied to a list of putative actionable conditions, the list of genes recommended by the American College of Medical Genetics and Genomics (ACMG) for return when deleterious variants are discovered as secondary/incidental findings, and a random sample of 1,000 genes. Scores from the list of putative actionable conditions (median = 12) and the ACMG list (median = 11) were both statistically different than the randomly selected genes (median = 7) (P < 0.0001, two-tailed Mann-Whitney test). Genet Med 18 5, 467–475. Conclusion: Gene–disease pairs having a score of 11 or higher represent the top quintile of actionability. The semiquantitative metric effectively assesses clinical actionability, promotes transparency, and may facilitate assessments of clinical actionability by various groups and in diverse contexts. Genet Med 18 5, 467–475. PMID:26270767

  5. Clinical, pathological and (18)F-FDG PET/CT findings in synchronous primary vaginal and endometrial cancers.

    PubMed

    Gunes, Burcak Yilmaz; Akbayır, Ozgur; Demirci, Emre; Ozaydin, Ipek

    2016-01-01

    Synchronous primary gynecologic malignancies are infrequently seen. In this report, we describe the clinical, pathological and fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) findings of a patient with synchronous primary vaginal and endometrial cancers. To our knowledge, this is the first such case described in the literature. PMID:27331214

  6. Solid organ abdominal ischemia, part I: clinical features, etiology, imaging findings, and management.

    PubMed

    Ricci, Zina J; Oh, Sarah K; Stein, Marjorie W; Kaul, Bindu; Flusberg, Milana; Chernyak, Victoria; Rozenblit, Alla M; Mazzariol, Fernanda A

    2016-01-01

    Solid organ abdominal ischemia commonly presents with acute pain prompting radiologic evaluation and often requires urgent treatment. Despite different risk factors and anatomic differences, most solid organ ischemia is due to arterial or venous occlusion and, less frequently, a low-flow state. Radiologic diagnosis is critical, as clinical presentations are often nonspecific. Contrast-enhanced computed tomography (CT) is the modality of choice (except in adnexal torsion) with magnetic resonance imaging (MRI) useful in equivocal cases or follow-up of ischemic disease. This article will provide a pictorial review of the CT and MRI features of solid abdominal organ ischemia while highlighting key clinical features, etiology, and management. PMID:27317217

  7. Newcastle disease in captive falcons in the Middle East: a review of clinical and pathologic findings.

    PubMed

    Samour, Jaime

    2014-03-01

    Newcastle disease is an important viral disease of falcons in the Middle East. Two different clinical presentations producing distinct clinical symptoms and pathologic lesions have been identified in affected falcons, denoted as neurotropic velogenic and viscerotropic velogenic forms. Humoral response after vaccination with commercially available oil-emulsion inactivated poultry vaccines has been observed for up to 9 months in vaccinated falcons. Public awareness programs at falcon medical facilities in the region are needed to promote annual vaccinations to prevent Newcastle disease in falcons. PMID:24881147

  8. Clinical and magnetic resonance imaging (MRI) findings in 26 dogs with canine osseous-associated cervical spondylomyelopathy

    PubMed Central

    Murthy, Vishal D.; Gaitero, Luis; Monteith, Gabrielle

    2014-01-01

    The potential link between degenerative changes seen on magnetic resonance imaging (MRI) in osseous-associated cervical spondylomyelopathy (OA-CSM) and clinical signs has not been explored. Our goal was to retrospectively evaluate MRI findings, while investigating potential correlations between these changes, signalment, and clinical signs. Twenty-six dogs diagnosed with OA-CSM were included in the study. Clinical signs were converted into a Modified Frankel Score (MFS) and MRI findings were assessed and graded. Giant breeds had multiple compressed sites and presented at a younger age than large breeds, suggesting a different underlying pathophysiology. Spinal cord compression, most commonly bilateral, was present in 36.8% of intervertebral spaces. Synovial fluid loss and articular process sclerosis were the most common degenerative changes. Most dogs showed identical MFS scores, and no significant correlations were found between MFS and MRI changes. More detailed functional scales should be used to investigate this in the future. PMID:24489397

  9. Clinical and magnetic resonance imaging (MRI) findings in 26 dogs with canine osseous-associated cervical spondylomyelopathy.

    PubMed

    Murthy, Vishal D; Gaitero, Luis; Monteith, Gabrielle

    2014-02-01

    The potential link between degenerative changes seen on magnetic resonance imaging (MRI) in osseous-associated cervical spondylomyelopathy (OA-CSM) and clinical signs has not been explored. Our goal was to retrospectively evaluate MRI findings, while investigating potential correlations between these changes, signalment, and clinical signs. Twenty-six dogs diagnosed with OA-CSM were included in the study. Clinical signs were converted into a Modified Frankel Score (MFS) and MRI findings were assessed and graded. Giant breeds had multiple compressed sites and presented at a younger age than large breeds, suggesting a different underlying pathophysiology. Spinal cord compression, most commonly bilateral, was present in 36.8% of intervertebral spaces. Synovial fluid loss and articular process sclerosis were the most common degenerative changes. Most dogs showed identical MFS scores, and no significant correlations were found between MFS and MRI changes. More detailed functional scales should be used to investigate this in the future. PMID:24489397

  10. Selection of the treatment effect for sample size determination in a superiority clinical trial using a hybrid classical and Bayesian procedure.

    PubMed

    Ciarleglio, Maria M; Arendt, Christopher D; Makuch, Robert W; Peduzzi, Peter N

    2015-03-01

    Specification of the treatment effect that a clinical trial is designed to detect (θA) plays a critical role in sample size and power calculations. However, no formal method exists for using prior information to guide the choice of θA. This paper presents a hybrid classical and Bayesian procedure for choosing an estimate of the treatment effect to be detected in a clinical trial that formally integrates prior information into this aspect of trial design. The value of θA is found that equates the pre-specified frequentist power and the conditional expected power of the trial. The conditional expected power averages the traditional frequentist power curve using the conditional prior distribution of the true unknown treatment effect θ as the averaging weight. The Bayesian prior distribution summarizes current knowledge of both the magnitude of the treatment effect and the strength of the prior information through the assumed spread of the distribution. By using a hybrid classical and Bayesian approach, we are able to formally integrate prior information on the uncertainty and variability of the treatment effect into the design of the study, mitigating the risk that the power calculation will be overly optimistic while maintaining a frequentist framework for the final analysis. The value of θA found using this method may be written as a function of the prior mean μ0 and standard deviation τ0, with a unique relationship for a given ratio of μ0/τ0. Results are presented for Normal, Uniform, and Gamma priors for θ. PMID:25583273

  11. Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings.

    PubMed

    Strowd, Roy E; Strowd, Lindsay C; Blakeley, Jaishri O

    2016-06-01

    Skin findings are a rare but important aspect of the evaluation and management of patients with tumors of the nervous system. Skin findings have the highest prevalence in genetic tumor syndromes termed neuro-genodermatoses, which include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and tuberous sclerosis. Skin changes are observed in patients with non-syndromic nervous system malignancy, often as a result of pharmacotherapy. The skin may also manifest findings in paraneoplastic conditions that affect the nervous system, providing an early indication of underlying neoplasm, including dermatomyosistis, neuropathic itch, and brachioradial pruritus. In this article, we review the major cutaneous findings in patients with tumors of the brain, spine, and peripheral nervous system focusing on (1) cutaneous manifestations of genetic and sporadic primary nervous system tumor syndromes, and (2) paraneoplastic neurological syndromes with prominent cutaneous features. PMID:27178695

  12. Investigating Invariant Item Ordering in Personality and Clinical Scales: Some Empirical Findings and a Discussion

    ERIC Educational Resources Information Center

    Meijer, Rob R.; Egberink, Iris J. L.

    2012-01-01

    In recent studies, different methods were proposed to investigate invariant item ordering (IIO), but practical IIO research is an unexploited field in questionnaire construction and evaluation. In the present study, the authors explored the usefulness of different IIO methods to analyze personality scales and clinical scales. From the authors'…

  13. Dorsal midbrain syndrome associated with persistent neck extension: Clinical and diagnostic imaging findings in 2 dogs

    PubMed Central

    Canal, Sara; Baroni, Massimo; Falzone, Cristian; De Benedictis, Giulia M.; Bernardini, Marco

    2015-01-01

    Two young dogs were evaluated for an acute onset of abnormal head posture and eye movement. Neurological examination was characterized mostly by permanent neck extension, abnormalities of pupils, and eye movement. A mesencephalic mass lesion was detected on magnetic resonance imaging in both cases. Neurophysiological pathways likely responsible for this peculiar clinical presentation are discussed. PMID:26663922

  14. Diffusion-weighted MRI findings and clinical correlations in sporadic Creutzfeldt-Jakob disease.

    PubMed

    Gao, Ting; Lyu, Jin-Hao; Zhang, Jia-Tang; Lou, Xin; Zhao, Wei; Xing, Xiao-Wei; Yang, Ming; Yao, Yan; Tan, Qing-Che; Tian, Cheng-Lin; Huang, Xu-Sheng; Ma, Lin; Yu, Sheng-Yuan

    2015-06-01

    The objective of this study is to investigate the hyperintense lesions on diffusion-weighted magnetic resonance imaging (DWI) and its clinical correlation in sporadic Creutzfeldt-Jakob disease (sCJD). Patients who suffered from sCJD and followed up at the Department of Neurology at the General Hospital of the People's Liberation Army during the period of June 1, 2007 to July 1, 2014 were reviewed. The location of the hyperintense lesions on DWI, apparent diffusion coefficient (ADC) values of the hyperintense lesions were correlated with symptoms and clinical course. A total of 58 sCJD patients and ten healthy controls were included. Hyperintense lesions on DWI were observed in all the patients. The patients with basal ganglia (BG) hyperintense lesions on DWI had shorter disease duration and higher incidence of myoclonus (92 versus 44 %) than those without BG hyperintense lesions. The patients with occipital cortex hyperintense lesions on DWI had shorter disease duration between symptom onset and akinetic mutism than those without these lesions. The lower of the BG ADC value the faster presence of akinetic mutism and the shorter disease duration the patients will have. The presence of BG and occipital cortex hyperintense lesions on DWI and BG ADC values is correlated with the clinical course and clinical symptoms. PMID:25860342

  15. Clinical findings in nondemented mutation carriers predisposed to Alzheimer's disease: a model of mild cognitive impairment.

    PubMed

    Almkvist, Ove; Axelman, Karin; Basun, Hans; Jensen, Malene; Viitanen, Matti; Wahlund, Lars-Olof; Lannfelt, Lars

    2003-01-01

    Individuals carrying a mutation associated with Alzheimer's disease (AD) may serve as a model of mild cognitive impairment (MCI). Nondemented individuals from these families can be subdivided into asymptomatic and symptomatic groups. Four families were studied. Two families are associated with APP mutations (KN670/671ML, E693G) and two with PS1 mutation (M146V, H163Y). Clinical symptoms, level of global cognitive functioning as evaluated by Mini-Mental State Examination, neuropsychological test results, neuroradiological examinations (magnetic resonance imaging (MRI) and single-photon emission tomography (SPECT)), as well as cerebrospinal fluid (CSF) measurements of tau and beta-amyloid are reported. Nondemented mutation carriers did not report any symptoms indicating cognitive decline. In addition, no clinical signs of dementia or marked cognitive impairment in neuropsychological tests were found. A reduction of temporal blood flow with SPECT was indicated in 5/13 nondemented mutation carriers. Two of these 13 individuals had moderate hyperintensities in deep white matter as observed on MRI. CSF measurements of A beta 42/43 were inconclusive because of large biological variation. A nonsignificant elevation of tau was detected in mutation carriers. In conclusion, clinical examinations of relatively young individuals carrying an AD mutation did not reveal any marked abnormalities before the clinical onset of dementia. PMID:12603253

  16. Dissecting the Wilderness Therapy Client: Examining Clinical Trends, Findings, and Patterns

    ERIC Educational Resources Information Center

    Hoag, Matthew J.; Massey, Katie E.; Roberts, Sean D.

    2014-01-01

    Over the last decade, wilderness therapy research has increased substantially in both quality and quantity and has begun to establish a base of evidence and literature. However, there is still much to be learned about the clients served and their clinical profile. The authors examined diagnostic data from discharge summaries of 929 clients (192…

  17. Clinical Evidence in Guardianship of Older Adults Is Inadequate: Findings from a Tri-State Study

    ERIC Educational Resources Information Center

    Moye, Jennifer; Wood, Stacey; Edelstein, Barry; Armesto, Jorge C.; Bower, Emily H.; Harrison, Julie A.; Wood, Erica

    2007-01-01

    Purpose: This preliminary study compared clinical evaluations for guardianship in three states with varying levels of statutory reform. Design and Methods: Case files for 298 cases of adult guardianship were reviewed in Massachusetts, Pennsylvania, and Colorado, three states with varying degrees of statutory reform. The quality and content of the…

  18. The Full Spectrum of Clinical Ethical Issues in Kidney Failure. Findings of a Systematic Qualitative Review

    PubMed Central

    Kahrass, Hannes; Strech, Daniel; Mertz, Marcel

    2016-01-01

    Background When treating patients with kidney failure, unavoidable ethical issues often arise. Current clinical practice guidelines some of them, but lack comprehensive information about the full range of relevant ethical issues in kidney failure. A systematic literature review of such ethical issues supports medical professionalism in nephrology, and offers a solid evidential base for efforts that aim to improve ethical conduct in health care. Aim To identify the full spectrum of clinical ethical issues that can arise for patients with kidney failure in a systematic and transparent manner. Method A systematic review in Medline (publications in English or German between 2000 and 2014) and Google Books (with no restrictions) was conducted. Ethical issues were identified by qualitative text analysis and normative analysis. Results The literature review retrieved 106 references that together mentioned 27 ethical issues in clinical care of kidney failure. This set of ethical issues was structured into a matrix consisting of seven major categories and further first and second-order categories. Conclusions The systematically-derived matrix helps raise awareness and understanding of the complexity of ethical issues in kidney failure. It can be used to identify ethical issues that should be addressed in specific training programs for clinicians, clinical practice guidelines, or other types of policies dealing with kidney failure. PMID:26938863

  19. There’s an App for That? Highlighting the Difficulty in Finding Clinically Relevant Smartphone Applications

    PubMed Central

    Wiechmann, Warren; Kwan, Daniel; Bokarius, Andrew; Toohey, Shannon L.

    2016-01-01

    Introduction The use of personal mobile devices in the medical field has grown quickly, and a large proportion of physicians use their mobile devices as an immediate resource for clinical decision-making, prescription information and other medical information. The iTunes App Store (Apple, Inc.) contains approximately 20,000 apps in its “Medical” category, providing a robust repository of resources for clinicians; however, this represents only 2% of the entire App Store. The App Store does not have strict criteria for identifying content specific to practicing physicians, making the identification of clinically relevant content difficult. The objective of this study is to quantify the characteristics of existing medical applications in the iTunes App Store that could be used by emergency physicians, residents, or medical students. Methods We found applications related to emergency medicine (EM) by searching the iTunes App Store for 21 terms representing core content areas of EM, such as “emergency medicine,” “critical care,” “orthopedics,” and “procedures.” Two physicians independently reviewed descriptions of these applications in the App Store and categorized each as the following: Clinically Relevant, Book/Published Source, Non-English, Study Tools, or Not Relevant. A third physician reviewer resolved disagreements about categorization. Descriptive statistics were calculated. Results We found a total of 7,699 apps from the 21 search terms, of which 17.8% were clinical, 9.6% were based on a book or published source, 1.6% were non-English, 0.7% were clinically relevant patient education resources, and 4.8% were study tools. Most significantly, 64.9% were considered not relevant to medical professionals. Clinically relevant apps make up approximately 6.9% of the App Store’s “Medical” Category and 0.1% of the overall App Store. Conclusion Clinically relevant apps represent only a small percentage (6.9%) of the total App volume within the

  20. Vital Pulp Therapies in Clinical Practice: Findings from a Survey with Dentist in Southern Brazil.

    PubMed

    Chisini, Luiz Alexandre; Conde, Marcus Cristian Muniz; Correa, Marcos Britto; Dantas, Raquel Venâncio Fernandes; Silva, Adriana Fernandes; Pappen, Fernanda Geraldes; Demarco, Flávio Fernando

    2015-01-01

    Studies based on dentists' clinical practice possess vital relevance to understand factors leading the clinicians to choose by a specific technique over another. This study investigated which clinical conduct therapies are adopted by dentists in front of deep caries. Was evaluated how the place of work, post-graduate training and years since complete graduation influenced their decisions. A cross-sectional study was performed using a self-applied questionnaire with dentists (n=276) in Southern Brazil. Information regarding post-graduation training (specialization, master's or PhD), clinical experience (years since completing graduation) and place of work were investigated. The information regarding pulp vital therapies (materials for direct pulp capping; techniques for caries removal in deep cavities and strategies for indirect pulp capping) were collected by specific questions. Data were submitted to descriptive analysis and Exact Fischer Test. Response rate was 68% (187). The majority of dentists selected the calcium hydroxide (CH) as first material for direct (86.3%) and indirect (80.3%) pulp protection. Partial caries removal was reported by 61.9% of dentists. Less experienced clinical dentists choose partial caries removal more frequently (p=0.009), if compared with dentists graduated 10 years and up ago. The use of MTA was more common among professionals working at academic environment. Besides, MTA was not mentioned by professionals working exclusively in the public health service (p=0.003). In conclusion, the time since graduation influenced the clinical conduct related to caries removal. The choice of liner materials was influenced by dentists' workplace. PMID:26963197

  1. The Facts About Sexual (Dys)function in Schizophrenia: An Overview of Clinically Relevant Findings

    PubMed Central

    de Boer, Marrit K.; Castelein, Stynke; Wiersma, Durk; Schoevers, Robert A.; Knegtering, Henderikus

    2015-01-01

    A limited number of studies have evaluated sexual functioning in patients with schizophrenia. Most patients show an interest in sex that differs little from the general population. By contrast, psychiatric symptoms, institutionalization, and psychotropic medication contribute to frequently occurring impairments in sexual functioning. Women with schizophrenia have a better social outcome, longer lasting (sexual) relationships, and more offspring than men with schizophrenia. Still, in both sexes social and interpersonal impairments limit the development of stable sexual relationships. Although patients consider sexual problems to be highly relevant, patients and clinicians not easily discuss these spontaneously, leading to an underestimation of their prevalence and contributing to decreased adherence to treatment. Studies using structured interviews or questionnaires result in many more patients reporting sexual dysfunctions. Although sexual functioning can be impaired by different factors, the use of antipsychotic medication seems to be an important factor. A comparison of different antipsychotics showed high frequencies of sexual dysfunction for risperidone and classical antipsychotics, and lower frequencies for clozapine, olanzapine, quetiapine, and aripiprazole. Postsynaptic dopamine antagonism, prolactin elevation, and α1-receptor blockade may be the most relevant factors in the pathogenesis of antipsychotic-induced sexual dysfunction. Psychosocial strategies to treat antipsychotic-induced sexual dysfunction include psychoeducation and relationship counseling. Pharmacological strategies include lowering the dose or switching to a prolactin sparing antipsychotic. Also, the addition of a dopamine agonist, aripiprazole, or a phosphodiesterase-5 inhibitor has shown some promising results, but evidence is currently scarce. PMID:25721311

  2. Rock Finding

    ERIC Educational Resources Information Center

    Rommel-Esham, Katie; Constable, Susan D.

    2006-01-01

    In this article, the authors discuss a literature-based activity that helps students discover the importance of making detailed observations. In an inspiring children's classic book, "Everybody Needs a Rock" by Byrd Baylor (1974), the author invites readers to go "rock finding," laying out 10 rules for finding a "perfect" rock. In this way, the…

  3. CT findings and clinical features of pancreatic hemolymphangioma: a case report and review of the literature.

    PubMed

    Pan, Liang; Jian-bo, Gao; Javier, Pullas Tapia Gonzalo

    2015-01-01

    Pancreatic hemolymphangioma is a very rare benign tumor. There were only 10 reports of this disease until June 2014.The aim of the present study was to describe a hemolymphangioma in the neck and body of the pancreas in a 57-year-old woman.The method used in the present study consists of description of the clinical history, image lab features, and pathological result.The patient complained of a 10-day history of epigastric discomfort. Abdominal computed tomography (CT) showed a cystic-solid tumor with an irregular shape, in the neck and body of the pancreas. The tumoral cystic wall and its internal division could be seen intensified on contrast-enhanced CT images compared with those on precontrast images. The pathological examination confirmed the diagnosis.The clinical feature of pancreatic hemolymphangioma includes a lack of specificity. The CT appearance combined with age and sex may be useful in making an early diagnosis. PMID:25621699

  4. Pain and placebo in pediatrics: A comprehensive review of laboratory and clinical findings

    PubMed Central

    Kossowsky, Joe; Krummenacher, Peter; Grillon, Christian; Pine, Daniel; Colloca, Luana

    2014-01-01

    Pain modulation by placebo mechanisms is one of the most robust and best-studied phenomena, yet almost all research investigating the mechanisms and implications of the placebo analgesia are based on adult research. After highlighting crucial aspects that need to be considered in studying pain modulation in children, this comprehensive review examines studies related to pain modulation with an emphasis on factors such as age, neural development and pain measures. Psychological mechanisms underlying placebo effects including: 1) verbally-induced expectations; 2) conditioning and learning mechanisms; 3) child-parent-physician interactions are critically discussed. Taken together, research suggests that placebo mechanisms can impact therapeutic outcomes and potentially be exploited clinically to improve clinical outcomes in pediatric population. Recommendations for further investigating the mechanistic bases and harnessing placebo effects for supportive therapeutic applications are given. PMID:25180010

  5. [Ehrlichia infection in a child: clinical findings and review of the literature].

    PubMed

    Halac, Eduardo

    2016-06-01

    A 12 year old child was brought in by his parents due to persistent fever of 3 weeks duration, sore throat, malaise, chills, small joint arthralgia, myalgias, and a pink macular rash. The first clinical impression of the physicians was infectious mononucleosis but serologic testing ruled out the diagnosis. He was then treated with oral ampicillin without a favorable response. He was referred to us for a second evaluation. A detailed clinical history revealed that he had a few days of vacation in a rural area in the northern region of the province of Cordoba, in close contact with horses, dogs and cats. His parents found 2 ticks on his abdomen, and removed them with tweezers. Serology and blood count carried out in a specialized laboratory showed positive titers (> 160) for Ehrlichia chaffeensis. Further confirmation was obtained using genus-specific polymerase chain reaction. After a 3-week course of doxycicline the patient recovered and serological titers decreased. PMID:27164358

  6. Clinical values dataset processing through cluster analysis to find cardiovascular risk

    NASA Astrophysics Data System (ADS)

    Bucci, C. M.; Legnani, W. E.; Armentano, R. L.

    2016-04-01

    The scope of this work is to show another way to grouping population with clinical variables measured in health centres and to assign a cardiovascular risk indicator. To do this, two different datasets were used, one coming from France and another coming from Uruguay. The well proved Framingham index was used to validate the results. The preliminary results are very auspicious to encourage the research and get deeper knowledge of the cardiovascular risk indicators.

  7. Clinical findings and long-term managements of patients with amelogenesis imperfecta

    PubMed Central

    Koruyucu, Mine; Bayram, Merve; Tuna, Elif Bahar; Gencay, Koray; Seymen, Figen

    2014-01-01

    The aim of this clinical case series is to present a diagnosis and different treatment methods of patients in different ages with amelogenesis imperfecta (AI) as well as further treatments during a 3-6 years follow-up period. A number of 31 patients (16 female, 15 male with a mean age of 10.77 ± 2.65 years) with AI have been examined for the study group between 2007 and 2010 years. A detailed anamnesis was recorded, followed by a clinical and radiological assessment of oral health. The types of AI classified for each patient according to clinical and radiographic evaluation. The main complaints of patients, presence of dental caries and dental anomalies were noted. Necessary treatments had been planned for the individual cases of AI. A number of 19 patients had hypoplastic (HP) form, and 10 patients showed hypomaturation (HM) form of AI, while one patient showed hypocalcified form of AI and one patient had HM-HP form with taurodontism. Main complaints were chiefly related to dissatisfactory esthetics and dental sensitivity. Caries prevalence index was 93.5%. Mean decayed, missing, filling permanent teeth (DMF) and DMF surface (DMFS) were found as 2.74 ± 1.71 and 6.23 ± 3.99; df (decayed, filling primary teeth) and dfs (decayed, filling primary teeth surface) were found as 3.12 ± 2.85 and 5.24 ± 4.97, respectively. All patients received individual clinical care, including preventive, restorative, and prosthetic treatments. Patients have scheduled for regular follow-up in every 3 months. Composite restorations were used as the most common treatment (25 patients, 80.6%). The treatment plan should be based on patient's age, type of defects and individual needs of the patients. Necessary treatment plan is essential, not only due to functional and aesthetic reasons, but also for the positive psychological impact on young patients. PMID:25512739

  8. Transcranial brain sonography findings in clinical subgroups of idiopathic Parkinson's disease.

    PubMed

    Walter, Uwe; Dressler, Dirk; Wolters, Alexander; Wittstock, Matthias; Benecke, Reiner

    2007-01-01

    To investigate whether transcranial brain sonography (TCS) discriminates different courses of idiopathic Parkinson's disease (PD), 101 patients with clinically definite PD were studied. In four patients, TCS was not possible due to insufficient acoustic temporal bone windows. Substantia nigra (SN) hyperechogenicity was found in 96% of assessable patients. Larger SN echogenic size correlated with younger age at PD onset (Spearman correlation, r = -0.383; P < 0.001), but not with age, PD duration, or severity. Marked bilateral SN hyperechogenicity indicated early-onset rather than late-onset PD, and akinetic-rigid (AR) or mixed-type (MX) PD rather than tremor-dominant PD. SN echogenic sizes were larger contralateral to the clinically more affected side in AR PD and MX PD patients. Reduced echogenicity of brainstem raphe was associated with depression (RR = 1.61; 95% CI = 1.05-2.46; P = 0.044) but not with other clinical features. Caudate nucleus hyperechogenicity was, independently from PD duration, related to drug-induced psychosis (RR = 2.40; CI = 1.36-4.22; P = 0.001), but not to motor fluctuations. Lenticular nucleus hyperechogenicity indicated AR PD rather than tremor-dominant PD (RR = 1.44; CI = 1.11-1.86; P = 0.040). Frontal horn dilatation > 15.4 mm (mean of bilateral measurements) indicated increased risk of dementia (RR = 4.11; CI = 1.51-11.2; P = 0.001). We conclude that TCS displays characteristic changes of deep brain structures in different clinical manifestations of PD. PMID:17083096

  9. Peripheral neuropathy in chronic liver disease: clinical, electrodiagnostic, and nerve biopsy findings

    PubMed Central

    Knill-Jones, R. P.; Goodwill, C. J.; Dayan, A. D.; Williams, Roger

    1972-01-01

    In a prospective study of 70 unselected patients with chronic liver disease, clinical signs of a peripheral neuropathy were observed in 13 patients. Abnormal nerve conduction was demonstrated in nine of these and in one further patient who had no abnormal neurological signs. The occurrence of a neuropathy (in patients with cryptogenic cirrhosis, haemochromatosis, active chronic hepatitis as well as in alcoholic cirrhosis) could not be related to liver function, although it was associated with higher IgA and IgM values. Clinical diabetes was present in six of the 14 patients with neuropathy but there was no relation in the non-diabetic patients between neuropathy and minor impairment of carbohydrate tolerance. Those with neuropathy had a significantly higher incidence of oesophageal varices and there was also a relationship to a history of previous encephalopathy. Sural nerve biopsy was carried out on 14 patients, eight of whom had clinical or electrodiagnostic evidence of neuropathy. Single nerve fibres were examined by teasing and in all nerves histological evidence was found of an indolent process which had damaged whole Schwann cells and which resulted in demyelination and remyelination. Diabetic angiopathy was not seen and axonal degeneration, which was never severe, was found in all disease groups equally. Images PMID:4337271

  10. Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.

    PubMed

    Sacchetti, Marta; Macchi, Ilaria; Tiezzi, Alessandro; La Cava, Maurizio; Massaro-Giordano, Giacomina; Lambiase, Alessandro

    2016-02-01

    Corneal dystrophies are a heterogeneous group of bilateral, inherited, rare diseases characterized by slowly progressive corneal opacities, that lead to visual impairment. Most of them have an autosomal dominant pattern of inheritance with variable expressivity, but new mutations have been described. Many corneal dystrophies have been genetically characterized and the specific gene mutations identified, such as for the epithelial-stromal TGFBI dystrophies. Current classification systems identified four main groups of corneal dystrophies based on clinical, histologic, and genetic information. Diagnosis is performed during a routine ophthalmic examination that shows typical cellular abnormalities of the corneal epithelium, stroma, or endothelium. Disease progression should be carefully monitored to decide the proper clinical management. The treatment of corneal dystrophies is variable, depending on symptoms, clinical course, severity, and type of dystrophy. Management aimed to reduce symptoms and to improve vision, includes different surgical approaches. Novel cellular and genetic therapeutic approaches are under evaluation. J. Cell. Physiol. 231: 261-269, 2016. © 2015 Wiley Periodicals, Inc. PMID:26104822

  11. Clinical and Pathological Findings Associated with Aerosol Exposure of Macaques to Ricin Toxin

    PubMed Central

    Pincus, Seth H.; Bhaskaran, Manoj; Brey, Robert N.; Didier, Peter J.; Doyle-Meyers, Lara A.; Roy, Chad J.

    2015-01-01

    Ricin is a potential bioweapon that could be used against civilian and military personnel. Aerosol exposure is the most likely route of contact to ricin toxin that will result in the most severe toxicity. Early recognition of ricin exposure is essential if specific antidotes are to be applied. Initial diagnosis will most likely be syndromic, i.e., fitting clinical and laboratory signs into a pattern which then will guide the choice of more specific diagnostic assays and therapeutic interventions. We have studied the pathology of ricin toxin in rhesus macaques exposed to lethal and sublethal ricin aerosols. Animals exposed to lethal ricin aerosols were followed clinically using telemetry, by clinical laboratory analyses and by post-mortem examination. Animals exposed to lethal aerosolized ricin developed fever associated with thermal instability, tachycardia, and dyspnea. In the peripheral blood a marked neutrophilia (without immature bands) developed at 24 h. This was accompanied by an increase in monocytes, but depletion of lymphocytes. Red cell indices indicated hemoconcentration, as did serum chemistries, with modest increases in sodium and blood urea nitrogen (BUN). Serum albumin was strikingly decreased. These observations are consistent with the pathological observations of fluid shifts to the lungs, in the form of hemorrhages, inflammatory exudates, and tissue edema. In macaques exposed to sublethal aerosols of ricin, late pathologic consequences included chronic pulmonary fibrosis, likely mediated by M2 macrophages. Early administration of supportive therapy, specific antidotes after exposure or vaccines prior to exposure have the potential to favorably alter this outcome. PMID:26067369

  12. Clinical and Pathological Findings Associated with Aerosol Exposure of Macaques to Ricin Toxin.

    PubMed

    Pincus, Seth H; Bhaskaran, Manoj; Brey, Robert N; Didier, Peter J; Doyle-Meyers, Lara A; Roy, Chad J

    2015-06-01

    Ricin is a potential bioweapon that could be used against civilian and military personnel. Aerosol exposure is the most likely route of contact to ricin toxin that will result in the most severe toxicity. Early recognition of ricin exposure is essential if specific antidotes are to be applied. Initial diagnosis will most likely be syndromic, i.e., fitting clinical and laboratory signs into a pattern which then will guide the choice of more specific diagnostic assays and therapeutic interventions. We have studied the pathology of ricin toxin in rhesus macaques exposed to lethal and sublethal ricin aerosols. Animals exposed to lethal ricin aerosols were followed clinically using telemetry, by clinical laboratory analyses and by post-mortem examination. Animals exposed to lethal aerosolized ricin developed fever associated with thermal instability, tachycardia, and dyspnea. In the peripheral blood a marked neutrophilia (without immature bands) developed at 24 h. This was accompanied by an increase in monocytes, but depletion of lymphocytes. Red cell indices indicated hemoconcentration, as did serum chemistries, with modest increases in sodium and blood urea nitrogen (BUN). Serum albumin was strikingly decreased. These observations are consistent with the pathological observations of fluid shifts to the lungs, in the form of hemorrhages, inflammatory exudates, and tissue edema. In macaques exposed to sublethal aerosols of ricin, late pathologic consequences included chronic pulmonary fibrosis, likely mediated by M2 macrophages. Early administration of supportive therapy, specific antidotes after exposure or vaccines prior to exposure have the potential to favorably alter this outcome. PMID:26067369

  13. Inhibitory Functioning across ADHD Subtypes: Recent Findings, Clinical Implications, and Future Directions

    ERIC Educational Resources Information Center

    Adams, Zachary W.; Derefinko, Karen J.; Milich, Richard; Fillmore, Mark T.

    2008-01-01

    Although growing consensus supports the role of deficient behavioral inhibition as a central feature of the combined subtype of ADHD (ADHD/C; Barkley 1997 "Psychol Bull" 121:65-94; Nigg 2001 "Psychol Bull" 127:571-598), little research has focused on how this finding generalizes to the primarily inattentive subtype (ADHD/I). This question holds…

  14. The Empirical Status of Empirically Supported Psychotherapies: Assumptions, Findings, and Reporting in Controlled Clinical Trials

    ERIC Educational Resources Information Center

    Westen, Drew; Novotny, Catherine M.; Thompson-Brenner, Heather

    2004-01-01

    This article provides a critical review of the assumptions and findings of studies used to establish psychotherapies as empirically supported. The attempt to identify empirically supported therapies (ESTs) imposes particular assumptions on the use of randomized controlled trial (RCT) methodology that appear to be valid for some disorders and…

  15. Applying Cultural Competency in Clinical Practice: Findings from Multicultural Experts' Experience

    ERIC Educational Resources Information Center

    Kwong, Miu Ha

    2009-01-01

    This study employed a qualitative (grounded theory) method to achieve a better understanding, conceptualization, and operationalization of how cultural competency translated into practice could be observed and evaluated in social work students and practitioners. The research findings presented in this study were organized into three overarching…

  16. Inhibitory Functioning across ADHD Subtypes: Recent Findings, Clinical Implications and Future Directions

    PubMed Central

    Adams, Zachary W.; Derefinko, Karen J.; Milich, Richard; Fillmore, Mark T.

    2014-01-01

    Although growing consensus supports the role of deficient behavioral inhibition as a central feature of the combined subtype of ADHD (ADHD/C; Barkley, 2007; Nigg, 2001), little research has focused on how this finding generalizes to the primarily inattentive subtype (ADHD/I). This question holds particular relevance in light of recent work suggesting that ADHD/I might be better characterized as a disorder separate from ADHD/C (Diamond, 2005; Milich et al., 2001). The current paper describes major findings in the area of inhibitory performance in ADHD and highlights recent research suggesting important areas of divergence between the subtypes. In particular, preliminary findings point to potential differences between the subtypes with respect to how children process important contextual information from the environment, such as preparatory cues that precede responses and rewarding or punishing feedback following behavior. These suggestive findings are discussed in the context of treatment implications, which could involve differential intervention approaches for each subtype targeted to the specific deficit profiles that characterize each group of children. Future research avenues aimed toward building a sound theoretical model of ADHD/I and a better understanding of its relation to ADHD/C are also presented. Specifically, investigators are encouraged to continue studying the complex interplay between inhibitory and attentional processes, as this area seems particularly promising in its ability to improve our understanding of the potentially distinct pathologies underlying the ADHD subtypes. PMID:19072751

  17. Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

    PubMed

    Hegde, Madhuri; Bale, Sherri; Bayrak-Toydemir, Pinar; Gibson, Jane; Jeng, Linda Jo Bone; Joseph, Loren; Laser, Jordan; Lubin, Ira M; Miller, Christine E; Ross, Lainie F; Rothberg, Paul G; Tanner, Alice K; Vitazka, Patrik; Mao, Rong

    2015-03-01

    Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to the clinical indication, commonly referred to as incidental findings. This is a paradigm shift from traditional genetic testing in which testing and reporting are tailored to a patient's specific clinical condition. Clinical laboratories and physicians are wrestling with this increased complexity in genomic testing and reporting of the incidental findings to patients. An enormous amount of discussion has taken place since the release of a set of recommendations from the American College of Medical Genetics and Genomics. This discussion has largely focused on the content of the incidental findings, but the laboratory perspective and patient autonomy have been overlooked. This report by the Association of Molecular Pathology workgroup discusses the pros and cons of next-generation sequencing technology, potential benefits, and harms for reporting of incidental findings, including the effect on both the laboratory and the patient, and compares those with other areas of medicine. The importance of genetic counseling to preserve patient autonomy is also reviewed. The discussion and recommendations presented by the workgroup underline the need for continued research and discussion among all stakeholders to improve our understanding of the effect of different policies on patients, providers, and laboratories. PMID:25684271

  18. Basal cell adenoma of the parotid gland: clinical and pathological findings in 29 cases

    PubMed Central

    Lu, Jingrong; Zhang, Weiwen; Wang, Zhentao; Jia, Huan; Ma, Yan; Wu, Hao; Xiang, Mingliang

    2015-01-01

    Objective: To determine the clinical and pathological features of basal cell adenoma (BCA) of the parotid gland. Methods: This is a retrospective study of 29 parotid BCAs in 28 patients who underwent surgery at the Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, between October 2000 and June 2013. The tumors were categorized according to their location in the parotid gland as superior superficial lobe, inferior superficial lobe and deep lobe. Results: The mean age was 57.0 years (range, 32-83 years). The clinical manifestations of parotid BCAs were consistent with those of other benign parotid tumors. There were no significant differences in age, average disease duration and tumor size among the three tumor groups. There were 11 deep tumors (11/29, 37.9%), and five of them exhibited cystic degeneration (5/11, 45.5%). A total of 15 patients underwent FNAB examination, and the results were positive in seven patients (7/15, 46.7%). Mild facial nerve function impairment occurred in five patients (House-Brackmann grade II), of whom, three had recovered by the 6-month follow-up. No cases of local recurrence or malignant transformation were observed during follow-up. Conclusion: The clinical features of BCA are consistent with those of other benign tumors. The deep lobe of the parotid gland is more likely to develop BCAs, and thus, this diagnosis should be considered in patients with deep-lobe tumors, especially when accompanied with cystic degeneration. FNAB can increase the rate of preoperative diagnoses. PMID:26045798

  19. Finding falls in ambulatory care clinical documents using statistical text mining

    PubMed Central

    McCart, James A; Berndt, Donald J; Jarman, Jay; Finch, Dezon K; Luther, Stephen L

    2013-01-01

    Objective To determine how well statistical text mining (STM) models can identify falls within clinical text associated with an ambulatory encounter. Materials and Methods 2241 patients were selected with a fall-related ICD-9-CM E-code or matched injury diagnosis code while being treated as an outpatient at one of four sites within the Veterans Health Administration. All clinical documents within a 48-h window of the recorded E-code or injury diagnosis code for each patient were obtained (n=26 010; 611 distinct document titles) and annotated for falls. Logistic regression, support vector machine, and cost-sensitive support vector machine (SVM-cost) models were trained on a stratified sample of 70% of documents from one location (dataset Atrain) and then applied to the remaining unseen documents (datasets Atest–D). Results All three STM models obtained area under the receiver operating characteristic curve (AUC) scores above 0.950 on the four test datasets (Atest–D). The SVM-cost model obtained the highest AUC scores, ranging from 0.953 to 0.978. The SVM-cost model also achieved F-measure values ranging from 0.745 to 0.853, sensitivity from 0.890 to 0.931, and specificity from 0.877 to 0.944. Discussion The STM models performed well across a large heterogeneous collection of document titles. In addition, the models also generalized across other sites, including a traditionally bilingual site that had distinctly different grammatical patterns. Conclusions The results of this study suggest STM-based models have the potential to improve surveillance of falls. Furthermore, the encouraging evidence shown here that STM is a robust technique for mining clinical documents bodes well for other surveillance-related topics. PMID:23242765

  20. Structural barriers to timely initiation of antiretroviral treatment in Vietnam: findings from six outpatient clinics.

    PubMed

    Tran, Dam Anh; Shakeshaft, Anthony; Ngo, Anh Duc; Rule, John; Wilson, David P; Zhang, Lei; Doran, Christopher

    2012-01-01

    In Vietnam, premature mortality due to AIDS-related conditions is commonly associated with late initiation to antiretroviral therapy (ART). This study explores reasons for late ART initiation among people living with HIV (PLHIV) from the perspectives of health care providers and PLHIV. The study was undertaken in six clinics from five provinces in Vietnam. Baseline CD4 counts were collected from patient records and grouped into three categories: very late initiators (≤100 cells/mm(3) CD4), late initiators (100-200 cells/mm(3)) and timely initiators (200-350 cells/mm(3)). Thirty in-depth interviews with patients who started ART and 15 focus group discussions with HIV service providers were conducted and thematic analysis of the content performed. Of 934 patients, 62% started ART very late and 11% initiated timely treatment. The proportion of patients for whom a CD4 count was obtained within six months of their HIV diagnosis ranged from 22% to 72%. The proportion of patients referred to ART clinics by voluntary testing and counselling centres ranged from 1% to 35%. Structural barriers to timely ART initiation were poor linkage between HIV testing and HIV care and treatment services, lack of patient confidentiality and a shortage of HIV/AIDS specialists. If Vietnam's treatment practice is to align with WHO recommendations then the connection between voluntary counselling and testing service and ART clinics must be improved. Expansion and decentralization of HIV/AIDS services to allow implementation at the community level increased task sharing between doctors and nurses to overcome limited human resources, and improved patient confidentiality are likely to increase timely access to HIV treatment services for more patients. PMID:23240013

  1. Congenital bipartite atlas with hypodactyly in a dog: clinical, radiographic and CT findings.

    PubMed

    Wrzosek, M; Płonek, M; Zeira, O; Bieżyński, J; Kinda, W; Guziński, M

    2014-07-01

    A three-year-old Border collie was diagnosed with a bipartite atlas and bilateral forelimb hypodactyly. The dog showed signs of acute, non-progressive neck pain, general stiffness and right thoracic limb non-weight-bearing lameness. Computed tomography imaging revealed a bipartite atlas with abaxial vertical bone proliferation, which was the cause of the clinical signs. In addition, bilateral hypodactyly of the second and fifth digits was incidentally found. This report suggests that hypodactyly may be associated with atlas malformations. PMID:24635705

  2. Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

    PubMed

    Ben-Omran, Tawfeg; Lakhani, Shenela; Almureikhi, Mariam; Ali, Rehab; Takahashi, Atsushi; Miyake, Noriko; Matsumoto, Naomichi; Ikegawa, Shiro; Superti-Furga, Andrea; Unger, Sheila

    2014-09-01

    We report on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterized by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay. This constellation likely represents a previously undescribed skeletal dysplasia, most probably inherited in an autosomal recessive pattern. A homozygosity mapping approach has thus far failed to unearth the responsible gene as the region shared by these three sibs is 27.7 Mb in size and contains over 200 genes with no obvious candidate. PMID:24975242

  3. Suspected fusariomycotoxicosis in sandhill cranes (Grus canadensis): clinical and pathological findings.

    USGS Publications Warehouse

    Roffe, Thomas J.; Stroud, Richard K.; Windingstad, Ronald M.

    1989-01-01

    In 1985 and 1986, large-scale natural die-offs of sandhill cranes in Texas were attributed to fusariomycotoxicosis. These birds demonstrated a progressive loss of motor control to the neck, wings, and legs. Based on necropsy and/or histopathology of 31 cranes, the most common lesions involved skeletal muscle and included hemorrhages, granulomatous myositis, thrombosis, and vascular degeneration. Serum chemistry results revealed that levels of creatinine kinase, aspartate aminotransferase, and alanine aminotransferase were above published normals. However, only alanine aminotransferase was higher in clinically affected cranes than in normal cranes collected from the same area.

  4. Dopamine-secreting giant adrenal ganglioneuroma: clinical and diffusion-weighted magnetic resonance imaging findings.

    PubMed

    Polat, A V; Polat, A Kamali; Aslan, K; Atmaca, H; Karagoz, F

    2014-01-01

    We report a case of a dopamine-secreting giant primary adrenal ganglioneuroma (GN) in a 29-year-old male patient. Although the patient was clinically silent, the 24-hour urine levels of dopamine, normetanephrine, homovanillic acid and vanillyl mandelic acid were elevated. Abdominal ultrasonography and magnetic resonance imaging showed a large solid tumor with calcifications and a slightly lobular edge on the left adrenal gland. A tumor, 13 x 23 x 25 cm in size, was completely resected without morbidity. A 2-year follow-up with computed tomography showed that the postoperative course of the patient was uneventful. PMID:25073244

  5. FDG PET/CT findings in a clinically diagnosed case of childhood autism.

    PubMed

    Manglunia, Ashmi S; Puranik, Ameya D

    2016-01-01

    Autism is a neurodevelopmental disorder with multifactorial etiology and varied presentation, in which early diagnosis is crucial to the implementation of early treatment. A 6-year-old child clinically diagnosed with autism, and a normal magnetic resonance imaging underwent dedicated 18F-fluorodeoxyglucose brain positron emission tomography (PET) as an ancillary investigation. PET image showed diffuse bilateral temporal hypometabolism. Although PET imaging is currently not indicated in the evaluation of autism, characteristic imaging patterns on PET can provide corroborative information and increase the diagnostic confidence for the same. PMID:27095864

  6. FDG PET/CT findings in a clinically diagnosed case of childhood autism

    PubMed Central

    Manglunia, Ashmi S.; Puranik, Ameya D.

    2016-01-01

    Autism is a neurodevelopmental disorder with multifactorial etiology and varied presentation, in which early diagnosis is crucial to the implementation of early treatment. A 6-year-old child clinically diagnosed with autism, and a normal magnetic resonance imaging underwent dedicated 18F-fluorodeoxyglucose brain positron emission tomography (PET) as an ancillary investigation. PET image showed diffuse bilateral temporal hypometabolism. Although PET imaging is currently not indicated in the evaluation of autism, characteristic imaging patterns on PET can provide corroborative information and increase the diagnostic confidence for the same. PMID:27095864

  7. Hollow organ abdominal ischemia, part II: clinical features, etiology, imaging findings and management.

    PubMed

    Ricci, Zina J; Mazzariol, Fernanda S; Kaul, Bindu; Oh, Sarah K; Chernyak, Victoria; Flusberg, Milana; Stein, Marjorie W; Rozenblit, Alla M

    2016-01-01

    Acute hollow organ ischemia commonly presents with acute pain prompting radiologic evaluation and almost always requires urgent treatment. Despite different risk factors and anatomic differences, ischemia is commonly due to low flow states but can also be due to arterial and venous occlusion. Radiologic diagnosis is critical as many present with nonspecific symptoms. Contrast-enhanced computed tomography (CT) is the modality of choice. Magnetic resonance imaging (MRI) is preferred in suspected appendicitis in pregnant patients and is superior in biliary necrosis. This article provides a pictorial review of the CT/MRI features of hollow abdominal organ ischemia while highlighting key clinical features, pathogenesis, and management. PMID:27317221

  8. Clinical, haematological and biochemical findings in milk-fed calves with chronic indigestion.

    PubMed

    Stocker, H; Lutz, H; Rüsch, P

    1999-09-11

    The principal clinical signs in 59 milk-fed calves with chronic indigestion were general malaise and depression, poor appetite, poor body condition, dehydration, a dull and scaly hair coat, alopecia and clay-like faeces. All the calves had metabolic acidosis, which was associated with an inability to stand up in more than half of them. There were significant differences in the severity of acidosis between the calves that could stand and those that could not. Other signs in some of the calves were dehydration, leucocytosis, and increased activities of liver enzymes. PMID:10515617

  9. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

    PubMed Central

    Wilson, Brian T.; Stark, Zornitza; Sutton, Ruth E.; Danda, Sumita; Ekbote, Alka V.; Elsayed, Solaf M.; Gibson, Louise; Goodship, Judith A.; Jackson, Andrew P.; Keng, Wee Teik; King, Mary D.; McCann, Emma; Motojima, Toshino; Murray, Jennifer E.; Omata, Taku; Pilz, Daniela; Pope, Kate; Sugita, Katsuo; White, Susan M.; Wilson, Ian J.

    2016-01-01

    Purpose: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no guidelines for care have been established. Genet Med 18 5, 483–493. Methods: One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians. Genet Med 18 5, 483–493. Results and Conclusion: We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses. Genet Med 18 5, 483–493. PMID:26204423

  10. High-pressure paint gun injury: clinical presentation and imaging findings.

    PubMed

    Peters, Greg; Learch, Thomas; White, Eric; Forrester, Deborah

    2014-12-01

    High-pressure paint gun injuries are potentially devastating injuries that require emergent surgical incision and drainage. They result from erroneous equipment operation and accidental injection of a variety of substances at pressures high enough to breach the skin. The largely benign superficial appearance masks the extent of the underlying injury. In the absence of an appropriate history, the radiologist must recognize the characteristic radiographic findings and suggest the diagnosis to the clinician. PMID:24570121

  11. Proton spectroscopy of the brain in HIV infection: correlation with clinical, immunologic, and MR imaging findings.

    PubMed

    Chong, W K; Sweeney, B; Wilkinson, I D; Paley, M; Hall-Craggs, M A; Kendall, B E; Shepard, J K; Beecham, M; Miller, R F; Weller, I V

    1993-07-01

    Abnormalities at cerebral proton spectroscopy occur in patients with the acquired immunodeficiency syndrome (AIDS). N-acetyl aspartate (NAA) is believed to be a neuronal marker, and neuronal loss is thought to underlie the human immunodeficiency virus (HIV)-associated cognitive/motor complex. The proton spectra in 103 HIV-seropositive patients and 23 control subjects were compared and correlated with clinical, immunologic, and radiologic measures of HIV infection. Significant (P < .05) reductions in the mean NAA/choline (Cho) and NAA/creatine (Cr) ratios were seen in patients with immune suppression and neurologic signs. Significant increases in the Cho/Cr ratios were seen in patients with low CD4 lymphocyte counts and abnormal magnetic resonance (MR) images. Reduced NAA ratios correlated with diffuse but not focal MR imaging abnormalities. Combined MR imaging and spectroscopy provides closer relationships to clinical and immunologic measures of disease than either modality alone. Spectroscopy is an adjunct to MR imaging and augments the value of an MR imaging study. PMID:8099750

  12. Examining the effects of interprofessional problem-based clinical ethics: Findings from a mixed methods study.

    PubMed

    Chou, Fremen Chihchen; Kwan, Chiu-Yin; Hsin, Dena Hsin-Chen

    2016-05-01

    Understanding how interprofessional education (IPE) works in learning clinical ethics via problem-based learning (PBL) and how different professions' perspectives influence each other in this setting may inform future IPE. Eighty-nine students participated in a clinical ethics PBL and were assigned into three study groups, i.e., medical, nursing, and interprofessional groups. This study applied an explanatory sequential mixed methods design. The quantitative phase involved observation of the learning process in PBL tutorial with checklists to code students' performance of learning behaviour, ethics discussion skills, learning content explored, and analysis through comparison of accumulative percentage of the coded performance between groups. Content analysis of post-PBL homework self-reflections from interprofessional group was conducted as the following explanatory qualitative phase. Quantitative results indicated that nursing students performed favourably on course engagement, caring, and communication while medical students performed positively on issue identification and the life science aspect. Interprofessional group showed the strength of the both professions and performed best through the learning process. Content analysis revealed that students in the interprofessional group achieved interprofessional learning from recognizing the differences between to appreciating learning from each other and to sense the need of future collaboration. With early exposure to IPE, undergraduate students may learn to balance their socialized viewpoints by seeing ethical dilemmas from each other's standpoint. PMID:27152541

  13. Pro-inflammatory cytokine levels in human apical periodontitis: Correlation with clinical and histological findings.

    PubMed

    Jakovljevic, Aleksandar; Knezevic, Aleksandra; Karalic, Danijela; Soldatovic, Ivan; Popovic, Branka; Milasin, Jelena; Andric, Miroslav

    2015-08-01

    This study aimed to compare the levels of tumour necrosis factor-alpha (TNF-α), interleukin-1 beta (IL-1β) and interleukin-6 (IL-6) between apical periodontitis lesions with different clinical and histological features. Based on clinical data and history of disease, 100 human apical periodontitis lesions were categorised as either asymptomatic or symptomatic lesions. According to histological examination, lesions were divided into periapical granulomas and radicular cysts. Pulp tissues of 25 impacted wisdom teeth were used as controls. Homogenised tissue samples were centrifuged and supernatants were used for the determination of cytokine levels by enzyme-linked immunosorbent assay. Significantly higher levels of IL-1β and IL-6 were found in symptomatic lesions compared with asymptomatic lesions and control tissues (P < 0.001, P < 0.001, respectively). The concentration of IL-1β was significantly higher in radicular cysts compared with periapical granulomas (P = 0.003). Symptomatic lesions, as judged by high local production of IL-1β and IL-6, represent an immunologically active stage of the disease. PMID:25163634

  14. Unmet clinical needs in the management of advanced melanoma: findings from a survey of oncologists.

    PubMed

    Jones, C; Clapton, G; Zhao, Z; Barber, B; Saltman, D; Corrie, P

    2015-11-01

    Advanced melanoma is a life-threatening cancer with limited life expectancy. The recent introduction of new targeted systemic therapies has provided clinicians with the means to potentially extend survival for the first time. However, the chance of cure remains very low and treatment-induced toxicity is well described. This qualitative study was undertaken to evaluate clinicians' assessment regarding the key concerns in managing advanced melanoma following the introduction of these new treatments. Three hundred and forty-three oncologists were surveyed online between August and November 2012 (in 11 countries) and March and April 2013 (in an additional country). Analysis of free-text responses identified 23 clinical issues of concern across all countries. Of these, the most common clinical concerns were drug toxicity and tolerability, followed by limited treatment effectiveness and limited treatment options. These results suggest that despite the promise of the two new agents in the field, clinicians are still concerned about the limitations of current treatment options, recognising that there remains a significant unmet need in the treatment of advanced melanoma. PMID:26222136

  15. [Long-term HR-Manometry of the Esophagus: first findings in clinical use].

    PubMed

    Jell, A; Wilhelm, D; Ostler, D; Feußner, H; Hüser, N

    2016-09-01

    Diagnosis of oesophageal motility disorders has been well established for many years now, although circadian gastrointestinal motility is still purely understood. So far, high-resolution manometry (HRM) is only available for short-term measurement in clinical practice to evaluate simultaneous pressure conditions throughout the esophagus. Thus, only a very limited period of time can be investigated. There is evidence that disorders in esophageal motility can cause severe discomfort and symptoms even though they only tend to occur spontaneously. When performing short-term-measurements, these often cannot be detected. Therefore, one can assume that long-term analysis of the esophageal function will provide valuable new insights, which will contribute to more effective medicamenteous and operative treatment in esophageal motility disorders. At our gastrointestinal functional diagnostic laboratory, it has been possible to perform high-resolution manometry over the period of 24 hours since June 2014. We used a manometric probe consisting of 36 pressure sensors which are connected to a mobile recording device for ambulatory measurement. This article describes our experiences in clinical use when performing long-term high-resolution manometry and discusses usability and relevance of the results in the context of the underlying esophageal motility disorder. PMID:27612220

  16. Key findings of the US Cystic Fibrosis Foundation's clinical practice benchmarking project.

    PubMed

    Boyle, Michael P; Sabadosa, Kathryn A; Quinton, Hebe B; Marshall, Bruce C; Schechter, Michael S

    2014-04-01

    Benchmarking is the process of using outcome data to identify high-performing centres and determine practices associated with their outstanding performance. The US Cystic Fibrosis Foundation (CFF) Patient Registry contains centre-specific outcomes data for all CFF-certified paediatric and adult cystic fibrosis (CF) care programmes in the USA. The CFF benchmarking project analysed these registry data, adjusting for differences in patient case mix known to influence outcomes, and identified the top-performing US paediatric and adult CF care programmes for pulmonary and nutritional outcomes. Separate multidisciplinary paediatric and adult benchmarking teams each visited 10 CF care programmes, five in the top quintile for pulmonary outcomes and five in the top quintile for nutritional outcomes. Key practice patterns and approaches present in both paediatric and adult programmes with outstanding clinical outcomes were identified and could be summarised as systems, attitudes, practices, patient/family empowerment and projects. These included: (1) the presence of strong leadership and a well-functioning care team working with a systematic approach to providing consistent care; (2) high expectations for outcomes among providers and families; (3) early and aggressive management of clinical declines, avoiding reliance on 'rescues'; and (4) patients/families that were engaged, empowered and well informed on disease management and its rationale. In summary, assessment of practice patterns at CF care centres with top-quintile pulmonary and nutritional outcomes provides insight into characteristic practices that may aid in optimising patient outcomes. PMID:24608546

  17. Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome.

    PubMed

    Cardinale, Luciano; Asteggiano, Francesco; Moretti, Federica; Torre, Federico; Ulisciani, Stefano; Fava, Carmen; Rege-Cambrin, Giovanna

    2014-08-28

    In acute promyelocytic leukemia, differentiation therapy based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome (DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients' behaviour and rapidly detect the complications. PMID:25170395

  18. Summary of clinical findings on Engerix-B, a genetically engineered yeast derived hepatitis B vaccine.

    PubMed

    André, F E; Safary, A

    1987-01-01

    Between February 1984 and August 1986 results have been obtained in 58 completed or ongoing clinical studies by 33 investigators in 19 countries on a yeast-derived recombinant DNA hepatitis B vaccine (Engerix-B). Among the 6100 subjects enrolled in these studies, 5664 subjects (150 normal neonates, 178 neonates of hepatitis B carrier mothers, 330 children aged 3-10 years, 3697 young healthy adults, 438 homosexual males, 110 older healthy adults, 139 drug addicts, 262 institutionalized mentally retarded patients, 59 thalassaemics, 25 sicklaemics, 270 patients on chronic haemodialysis and 6 haemophiliacs) received one or more (up to 4) injections of different doses of the yeast-derived vaccine according to either a 0, 1, 2, and 12 month or a 0, 1, and 6 month vaccination schedule. In randomized comparative studies 436 subjects received either one of two commercially available plasma-derived vaccines. The results reviewed in the present summary have shown that Engerix-B is safe, clinically well tolerated, gives an anti-HBs response which is qualitatively and quantitatively similar to that obtained with plasma-derived vaccines and confers protection against infection and disease. Engerix-B can be considered as a valid alternative to existing hepatitis B vaccines. PMID:3317357

  19. Bovine leukocyte adhesion deficiency--clinical course and laboratory findings in eight affected animals.

    PubMed

    Müller, K E; Bernadina, W E; Kalsbeek, H C; Hoek, A; Rutten, V P; Wentink, G H

    1994-03-01

    The clinical course of Bovine Leukocyte Adhesion Deficiency (BLAD) in eight Holstein Friesian cattle is described. Affected animals were presented with a history of poor thriving and recurrent bacterial infections. Five of these animals had to be killed because of severe respiratory disease shortly after admittance. Three affected animals survived calfhood only as a result of frequent antibacterial treatments. At one year of age, failure to thrive and stunted growth were still evident, but infections requiring antibiotic treatments occurred only sporadically. Clinical manifestations of BLAD were found in the digestive system (gingivitis, periodontitis, alveolar periostitis, diarrhoea), the respiratory system and the skin (impaired wound healing, chronic dermatitis). A leukocytosis based on a mature neutrophilia, which persisted during infection-free periods, was observed in all animals. Granulocytes were substantially deficient of beta 2-integrin expression on their membranes. Anaemia, which was noted in four animals, may be related to the Anaemia of Inflammatory Disease Complex (AID). The serum total protein content increased with time and was associated with elevated gamma-globulin levels. We suggest that, at a certain age, animals affected with BLAD are able to cope with environmental agents due to compensatory mechanisms of the immune system. PMID:8009815

  20. Bovine leukocyte adhesion deficiency--clinical course and laboratory findings in eight affected animals.

    PubMed

    Müller, K E; Bernadina, W E; Kalsbeek, H C; Hoek, A; Rutten, V P; Wentink, G H

    1994-07-01

    The clinical course of Bovine Leukocyte Adhesion Deficiency (BLAD) in eight Holstein Friesian cattle is described. Affected animals were presented with a history of poor thriving and recurrent bacterial infections. Five of these animals had to be killed because of severe respiratory disease shortly after admittance. Three affected animals survived calfhood only as a result of frequent antibacterial treatments. At one year of age, failure to thrive and stunted growth were still evident, but infections requiring antibiotic treatments occurred only sporadically. Clinical manifestations of BLAD were found in the digestive system (gingivitis, periodontitis, alveolar periostitis, diarrhoea), the respiratory system and the skin (impaired wound healing, chronic dermatitis). A leukocytosis based on a mature neutrophilia, which persisted during infection-free periods, was observed in all animals. Granulocytes were substantially deficient of beta 2-integrin expression on their membranes. Anaemia, which was noted in four animals, may be related to the Anaemia of Inflammatory Disease Complex (AID). The serum total protein content increased with time and was associated with elevated gamma-globulin levels. We suggest that, at a certain age, animals affected with BLAD are able to cope with environmental agents due to compensatory mechanisms of the immune system. PMID:7985357

  1. H-reflex latency in uremic neuropathy: correlation with NCV and clinical findings.

    PubMed

    Halar, E M; Brozovich, F V; Milutinovic, J; Inouye, V L; Becker, V M

    1979-04-01

    Sixty-two uremic patients on dialysis of varying durations were tested bilaterally for posterior tibial nerve H-reflex latency, at 3-month intervals. Bilateral nerve conduction velocities (NCVs) of the peroneal, tibial, and sural nerves were concomitantly determined in all subjects. Proprioception sense, vibration perception threshold at the great toes, and deep tendon reflexes at the knee and ankle were determined in all subjects on the day of electrodiagnostic testing. The sensitivity of the H-reflex latency in detection of the onset and severity of uremic neuropathy was assessed. H-reflex latency changes were compared to NCV and clinical test results. The following was found: (1) of the parameters studied, the H-reflex latency appeared to be the most sensitive indicator of early uremic polyneuropathies, (2) electrodiagnostic tests were more sensitive to the onset of neuropathies than the clinical testing parameters studied, and (3) the sural sensory nerve appeared to be involved earlier than peroneal and tibial motor nerves in neuropathies studied. PMID:224838

  2. Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.

    PubMed

    De Oliveira, Katharina Morant Holanda; Silva, Raquel Assed Bezerra; Carvalho, Fabricio Kitazono; Silva, Lea Assed Bezerra; Nelson-Filho, Paulo; Queiroz, Alexandra Mussolino

    2016-01-01

    The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. Oral hygiene instructions, composite restorations, endodontic treatments, teeth extractions, and stainless steel crown installations were performed. The patient was followed up for 7 years through the present due to other possible future clinical findings associated with the syndrome. An improvement in social aspects was observed after removal of toothache and improved esthetics. Such patients need continuous periodic services, which contributes to improving the quality of life in both buccal and general aspects. PMID:27307676

  3. Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome

    PubMed Central

    De Oliveira, Katharina Morant Holanda; Silva, Raquel Assed Bezerra; Carvalho, Fabricio Kitazono; Silva, Lea Assed Bezerra; Nelson-Filho, Paulo; Queiroz, Alexandra Mussolino

    2016-01-01

    The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Microdontia of a premolar was observed at the radiographic examination. The patient and family had no commitment to her oral health and dental treatment at first appointments. Oral hygiene instructions, composite restorations, endodontic treatments, teeth extractions, and stainless steel crown installations were performed. The patient was followed up for 7 years through the present due to other possible future clinical findings associated with the syndrome. An improvement in social aspects was observed after removal of toothache and improved esthetics. Such patients need continuous periodic services, which contributes to improving the quality of life in both buccal and general aspects. PMID:27307676

  4. A mouse diversity panel approach reveals the potential for clinical kidney injury due to DB289 not predicted by classical rodent models.

    PubMed

    Harrill, Alison H; Desmet, Kristina D; Wolf, Kristina K; Bridges, Arlene S; Eaddy, J Scott; Kurtz, C Lisa; Hall, J Ed; Paine, Mary F; Tidwell, Richard R; Watkins, Paul B

    2012-12-01

    DB289 is the first oral drug shown in clinical trials to have efficacy in treating African trypanosomiasis (African sleeping sickness). Mild liver toxicity was noted but was not treatment limiting. However, development of DB289 was terminated when several treated subjects developed severe kidney injury, a liability not predicted from preclinical testing. We tested the hypothesis that the kidney safety liability of DB289 would be detected in a mouse diversity panel (MDP) comprised of 34 genetically diverse inbred mouse strains. MDP mice received 10 days of oral treatment with DB289 or vehicle and classical renal biomarkers blood urea nitrogen (BUN) and serum creatinine (sCr), as well as urine biomarkers of kidney injury were measured. While BUN and sCr remained within reference ranges, marked elevations were observed for kidney injury molecule-1 (KIM-1) in the urine of sensitive mouse strains. KIM-1 elevations were not always coincident with elevations in alanine aminotransferase (ALT), suggesting that renal injury was not linked to hepatic injury. Genome-wide association analyses of KIM-1 elevations indicated that genes participating in cholesterol and lipid biosynthesis and transport, oxidative stress, and cytokine release may play a role in DB289 renal injury. Taken together, the data resulting from this study highlight the utility of using an MDP to predict clinically relevant toxicities, to identify relevant toxicity biomarkers that may translate into the clinic, and to identify potential mechanisms underlying toxicities. In addition, the sensitive mouse strains identified in this study may be useful in screening next-in-class compounds for renal injury. PMID:22940726

  5. Dissociative experiences in obsessive-compulsive disorder and trichotillomania: clinical and genetic findings.

    PubMed

    Lochner, Christine; Seedat, Soraya; Hemmings, Sian M J; Kinnear, Craig J; Corfield, Valerie A; Niehaus, Dana J H; Moolman-Smook, Johanna C; Stein, Dan J

    2004-01-01

    A link between dissociation proneness in adulthood and self-reports of childhood traumatic events (including familial loss in childhood, sexual/physical abuse and neglect) has been documented. Several studies have also provided evidence for an association between dissociative experiences and trauma in patients with various psychiatric disorders, including post-traumatic stress disorder, borderline personality, dissociative identity and eating disorders. Based on the relative paucity of data on dissociation and trauma in obsessive-compulsive disorder (OCD) and trichotillomania (TTM), the primary objective of this study was to examine the relationship between trauma and dissociative experiences (DE) in these two diagnostic groups. Furthermore, the availability of clinical and genetic data on this sample allowed us to explore clinical and genetic factors relevant to this association. A total of 110 OCD and 32 TTM patients were compared with respect to the degree of dissociation (using the Dissociative Experiences Scale [DES]) and childhood trauma (using the Childhood Trauma Questionnaire [CTQ]). Patients were classified on the DES as either "high" (mean DES score >/= 30) or "low" (mean DES score < 30) dissociators. Additional clinical and genetic factors were also explored with chi-square and t tests as appropriate. A total of 15.8% of OCD patients and 18.8% of TTM patients were high dissociators. OCD and TTM groups were comparable on DES and CTQ total scores, and in both OCD and TTM groups, significant positive correlations were found between mean DES scores and mean CTQ subscores of emotional abuse, physical abuse, sexual abuse, and physical neglect. In the OCD group, high dissociators were significantly younger than low dissociators, and significantly more high dissociators than low dissociators reported a lifetime (current and past) history of tics (P <.001), Tourette's syndrome (P =.019), bulimia nervosa (P =.003), and borderline personality disorder (P =.027

  6. Somatosensory evoked potentials in cervical spondylosis. Correlation of median, ulnar and posterior tibial nerve responses with clinical and radiological findings.

    PubMed

    Yu, Y L; Jones, S J

    1985-06-01

    Somatosensory evoked potentials (SEPs) following median, ulnar and tibial nerve stimulation were recorded from sites over the shoulders, neck and scalp in 34 patients with cervical spondylosis. Twenty control subjects were matched for sex and age. Detailed clinical and radiological data were assembled, with particular attention to the sensory modalities impaired and the locus and severity of cord compression. The patients were divided clinically into 4 groups: combined myelopathy and radiculopathy (6 cases), myelopathy alone (15), radiculopathy (6) and neck pain (7). Four cases are described in detail. SEP abnormalities were strongly correlated with clinical myelopathy, but not with radiculopathy. Median and ulnar nerve responses were less often affected than tibial, even with myelopathy above C6 level. Tibial nerve SEP abnormalities were strongly correlated with posterior column signs on the same side of the body, but not with anterolateral column sensory signs. In myelopathy cases, the SEP examination appeared to be more sensitive to sensory pathway involvement than clinical sensory testing. SEP abnormalities were infrequent in cases of radiculopathy and neck pain, bearing no relation to the clinical locus of root lesions. Abnormal SEPs consistent with subclinical posterior column involvement, however, were recorded in 1 patient with radiculopathy and 2 with neck pain. Follow-up recordings made postoperatively in 7 myelopathy cases reflected the clinical course (improvement, deterioration or no change) in 4, but failed to reflect improvement in 3. The correlation of SEP findings with radiological data was generally poor. SEP abnormalities were detected in 6 out of 8 patients with clinical myelopathy but no radiological evidence of posterior cord compression, suggesting that impairment of the blood supply may be an important factor contributing to cord damage. An application for SEPs in the clinical management of cervical spondylosis may lie in the detection of

  7. Comparation of clinical and paraclinical findings among patient with Kawasaki disease in Bandar abbas Koodakan Hospital in 2011-14

    NASA Astrophysics Data System (ADS)

    Borjali, Davood

    Title: Comparation of clinical and paraclinical findings among patient with Kawasaki disease in Bandar abbas Koodakan Hospital in 2011-14 Kawasaki disease(KD) is a kind of vasculitis diagnosed by clinical manifestation and it caused acquired heart disease in children because of coronary arteries involvement. Method: patient divided to three group of American Japanese and incomplete and also study in two group according to fever days and then clinical features and laboratory data were checked. Result: A total of 150 patients were enrolled during the study period. number of patients with incomplete Kawasaki disease was 128 american group was 28 and Japanese was 4 patients, the most prevalent symptom was scaling of extremities(61 bladder most seen in group with fever more than five days. Keyword: Kawasaki , epidemiology , criteria

  8. Comparison of Clinically-Relevant Findings from High Speed Fourier Domain and Conventional Time Domain Optical Coherence Tomography

    PubMed Central

    Keane, Pearse A.; Bhatti, Rizwan A.; Brubaker, Jacob W.; Liakopoulos, Sandra; Sadda, Srinivas R.; Walsh, Alexander C.

    2009-01-01

    Purpose To compare the sensitivities of high speed Fourier domain optical coherence tomography (FDOCT) and conventional time domain (TD)-OCT for the detection of clinical findings important in the management of common vitreoretinal disorders. Design Prospective observational study. Methods FDOCT scans (128 B-scans × 512 A-scans) were obtained using a prototype instrument (3D-OCT, Topcon, Japan) in 50 eyes of 28 consecutive patients undergoing conventional high resolution (6 B-scans × 512 A-scans) TDOCT imaging (StratusOCT, Carl Zeiss Meditec, USA). Each image set was reviewed independently for the presence of clinical findings of interest, and device sensitivities calculated. Results The average sensitivity for detection of all features in this study was 94% for FDOCT and 60% for TDOCT. Clinical findings were identical between devices in 18% (9/50) of cases. FDOCT detected features that were not visible on conventional OCT scans in 78% (39/50) of cases. FDOCT was more sensitive than TDOCT for the detection of multiple findings, including: diffuse intraretinal edema (87% versus 60.9%), subretinal fluid (100% versus 46.2%), large pigment epithelium detachments (100% versus 81%), and subretinal tissue (100% versus 61.5%). Conclusions FDOCT appears superior to TDOCT for the detection of many clinically relevant features of vitreoretinal disease. The greater sensitivity of FDOCT systems, for the detection of intraretinal and subretinal fluid, may be of particular importance for the treatment of patients with neovascular AMD. FDOCT is likely to supplant TDOCT as the standard of care for retinal specialists in the near future. PMID:19427620

  9. Metabolic Polymorphisms and Clinical Findings Related to Benzene Poisoning Detected in Exposed Brazilian Gas-Station Workers.

    PubMed

    Mitri, Simone; Fonseca, Antônio Sérgio Almeida; Otero, Ubirani Barros; Tabalipa, Marianne Medeiros; Moreira, Josino Costa; Sarcinelli, Paula de Novaes

    2015-07-01

    Benzene is a ubiquitous environmental pollutant and an important industrial chemical present in both gasoline and motor vehicle emissions. Occupational human exposure to benzene occurs in the petrochemical and petroleum refining industries as well as in gas-station workers, where it can lead to benzene poisoning (BP), but the mechanisms of BP are not completely understood. In Brazil, a significant number of gas-station service workers are employed. The aim of the present study was to evaluate alterations related to BP and metabolic polymorphisms in gas-station service workers exposed to benzene in the city of Rio de Janeiro, Brazil. Occupational exposure was based on clinical findings related to BP, and metabolic polymorphisms in 114 Brazilian gas-station attendants. These workers were divided into No Clinical Findings (NCF) and Clinical Findings (CF) groups. Neutrophil and Mean Corpuscular Volume (MCV) showed a significant difference between the two study groups, and neutrophil has the greatest impact on the alterations suggestive of BP. The clinical findings revealed higher frequencies of symptoms in the CF group, although not all members presented statistical significance. The frequencies of alleles related to risk were higher in the CF group for GSTM1, GSTT1, CYP2E1 7632T > A, but lower for NQO1 and CYP2E1 1053C > T genotypes. Moreover, an association was found between GSTM1 null and alterations related to BP, but we did not observe any effects of other polymorphisms. Variations in benzene metabolizing genes may modify benzene toxicity and should be taken into consideration during risk assessment evaluations. PMID:26197327

  10. Metabolic Polymorphisms and Clinical Findings Related to Benzene Poisoning Detected in Exposed Brazilian Gas-Station Workers

    PubMed Central

    Mitri, Simone; Fonseca, Antônio Sérgio Almeida; Otero, Ubirani Barros; Tabalipa, Marianne Medeiros; Moreira, Josino Costa; Sarcinelli, Paula de Novaes

    2015-01-01

    Benzene is a ubiquitous environmental pollutant and an important industrial chemical present in both gasoline and motor vehicle emissions. Occupational human exposure to benzene occurs in the petrochemical and petroleum refining industries as well as in gas-station workers, where it can lead to benzene poisoning (BP), but the mechanisms of BP are not completely understood. In Brazil, a significant number of gas-station service workers are employed. The aim of the present study was to evaluate alterations related to BP and metabolic polymorphisms in gas-station service workers exposed to benzene in the city of Rio de Janeiro, Brazil. Occupational exposure was based on clinical findings related to BP, and metabolic polymorphisms in 114 Brazilian gas-station attendants. These workers were divided into No Clinical Findings (NCF) and Clinical Findings (CF) groups. Neutrophil and Mean Corpuscular Volume (MCV) showed a significant difference between the two study groups, and neutrophil has the greatest impact on the alterations suggestive of BP. The clinical findings revealed higher frequencies of symptoms in the CF group, although not all members presented statistical significance. The frequencies of alleles related to risk were higher in the CF group for GSTM1, GSTT1, CYP2E1 7632T > A, but lower for NQO1 and CYP2E1 1053C > T genotypes. Moreover, an association was found between GSTM1 null and alterations related to BP, but we did not observe any effects of other polymorphisms. Variations in benzene metabolizing genes may modify benzene toxicity and should be taken into consideration during risk assessment evaluations. PMID:26197327

  11. Finding value in nursing care: a framework for quality improvement and clinical evaluation.

    PubMed

    Irvine, D; Sidani, S; Hall, L M

    1998-01-01

    Fiscal constraints have heightened attention to health care costs and patient outcomes as measures of health care system effectiveness. Determining which patient and costs outcomes nurses may be held accountable for requires differentiating the impact of dependent, independent and interdependent nursing activities. A nursing role effectiveness model that includes a number of structural variables is offered to help track quality improvement and research activities. Some of the nurse-sensitive patient outcomes that have been identified include: freedom from complications, clinical outcomes, functional health outcomes, knowledge outcomes, perceived health benefit (or satisfaction), and costs outcomes. This model can be used to evaluate the effectiveness of current as well as evolving nurse roles, processes, and structural changes. PMID:9748972

  12. Mucocele of the gland of Blandin-Nuhn: histological and clinical findings.

    PubMed

    de Camargo Moraes, Paulo; Bönecker, Marcelo; Furuse, Christiane; Thomaz, Luis Alexandre; Teixeira, Rubens Gonçalves; de Araújo, Vera Cavalcanti

    2009-09-01

    The authors examined the clinical and histopathological features of 48 cases of mucocele of the glands of Blandin-Nuhn. Data of all patients with mucocele treated at the Department of Oral and Maxillofacial Surgery totaled 312 cases during the 6-year period of study were analyzed. There was no sex predominance, and most patients were younger than 20 years. All lesions were located on the ventral surface of the tongue, and they were more frequently observed at the tip of the tongue whereas few ones occurred more posteriorly. All lesions presented a polypoid appearance. Histopathologically, the mucoceles were of the extravasation type and trauma might be the most frequent etiological factor. This type of mucocele was the second most frequent one and should not be considered rare. PMID:19172313

  13. Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

    PubMed Central

    Kant, Priyanka; Sharda, Neelkamal; Bhowate, Rahul R.

    2013-01-01

    Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.” PMID:24260721

  14. Clinical and MRI findings of cerebellar agenesis in two living adult patients

    PubMed Central

    Gelal, Fazıl Mustafa; Kalaycı, Tuğçe Özlem; Çelebisoy, Mehmet; Karakaş, Levent; Akkurt, Hülya Erdoğan; Koç, Feray

    2016-01-01

    Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development. PMID:27293341

  15. A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

    PubMed

    Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

    2014-09-01

    Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database. PMID:24514865

  16. Combining GLP-1 receptor agonists with insulin: therapeutic rationales and clinical findings.

    PubMed

    Holst, J J; Vilsbøll, T

    2013-01-01

    Due to the increasing prevalence of type 2 diabetes mellitus (T2DM), the emergent trend towards diagnosis in younger patients and the progressive nature of this disease, many more patients than before now require insulin to maintain glycaemic control. However, there is a degree of inertia among physicians and patients regarding the initiation and intensification of insulin therapy, in part due to concerns about the associated weight gain and increased risk of hypoglycaemia. Glucagon-like peptide-1 receptor agonists (GLP-1RAs) increase insulin release and suppress glucagon secretion in a glucose-dependent manner, thus conferring glycaemic control with a low incidence of hypoglycaemia. GLP-1RAs also promote weight loss, and have beneficial effects on markers of β cell function, lipid levels, blood pressure and cardiovascular risk markers. However, the durability of their effectiveness is unknown and, compared with insulin, the antihyperglycaemic efficacy of GLP-1RAs is limited. The combination of a GLP-1RA and insulin might thus be highly effective for optimal glucose control, ameliorating the adverse effects typically associated with insulin. Data from clinical studies support the therapeutic potential of GLP-1RA-insulin combination therapy, typically showing beneficial effects on glycaemic control and body weight, with a low incidence of hypoglycaemia and, in established insulin therapy, facilitating reductions in insulin dose. In this review, the physiological and pharmacological rationale for using GLP-1RA and insulin therapies in combination is discussed, and data from clinical studies that have assessed the efficacy and safety of this treatment strategy are outlined. PMID:22646532

  17. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

    PubMed Central

    Caciotti, Anna; Garman, Scott C; Rivera-Colón, Yadilette; Procopio, Elena; Catarzi, Serena; Ferri, Lorenzo; Guido, Carmen; Martelli, Paola; Parini, Rossella; Antuzzi, Daniela; Battini, Roberta; Sibilio, Michela; Simonati, Alessandro; Fontana, Elena; Salviati, Alessandro; Akinci, Gulcin; Cereda, Cristina; Dionisi-Vici, Carlo; Deodato, Francesca; d’Amico, Adele; d’Azzo, Alessandra; Bertini, Enrico; Filocamo, Mirella; Scarpa, Maurizio; di Rocco, Maja; Tifft, Cynthia J; Ciani, Federica; Gasperini, Serena; Pasquini, Elisabetta; Guerrini, Renzo; Donati, Maria Alice; Morrone, Amelia

    2011-01-01

    GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000– 1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were collected and compared with those in literature. In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models. The analysed cohort includes remarkable cases. One patient with GM1 gangliosidosis had a triple X syndrome. One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes, showed that all the amino acids replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations. Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease. PMID:21497194

  18. Working Memory and Hearing Aid Processing: Literature Findings, Future Directions, and Clinical Applications.

    PubMed

    Souza, Pamela; Arehart, Kathryn; Neher, Tobias

    2015-01-01

    Working memory-the ability to process and store information-has been identified as an important aspect of speech perception in difficult listening environments. Working memory can be envisioned as a limited-capacity system which is engaged when an input signal cannot be readily matched to a stored representation or template. This "mismatch" is expected to occur more frequently when the signal is degraded. Because working memory capacity varies among individuals, those with smaller capacity are expected to demonstrate poorer speech understanding when speech is degraded, such as in background noise. However, it is less clear whether (and how) working memory should influence practical decisions, such as hearing treatment. Here, we consider the relationship between working memory capacity and response to specific hearing aid processing strategies. Three types of signal processing are considered, each of which will alter the acoustic signal: fast-acting wide-dynamic range compression, which smooths the amplitude envelope of the input signal; digital noise reduction, which may inadvertently remove speech signal components as it suppresses noise; and frequency compression, which alters the relationship between spectral peaks. For fast-acting wide-dynamic range compression, a growing body of data suggests that individuals with smaller working memory capacity may be more susceptible to such signal alterations, and may receive greater amplification benefit with "low alteration" processing. While the evidence for a relationship between wide-dynamic range compression and working memory appears robust, the effects of working memory on perceptual response to other forms of hearing aid signal processing are less clear cut. We conclude our review with a discussion of the opportunities (and challenges) in translating information on individual working memory into clinical treatment, including clinically feasible measures of working memory. PMID:26733899

  19. UPDATE ON NEUROPHARMACOLOGICAL TREATMENTS FOR ALCOHOLISM: SCIENTIFIC BASIS AND CLINICAL FINDINGS

    PubMed Central

    JOHNSON, BANKOLE A.

    2008-01-01

    The past decade has seen an expansion of research and knowledge on pharmacotherapy for the treatment of alcohol dependence. The Food and Drug Administration (FDA)–approved medications naltrexone and acamprosate have shown mixed results in clinical trials. Oral naltrexone and naltrexone depot formulations have generally demonstrated efficacy at treating alcohol dependence, but their treatment effect size is small, and more research is needed to compare the effects of different doses on drinking outcome. Acamprosate has demonstrated efficacy for treating alcohol dependence in European trials, but with a small effect size. In U.S. trials, acamprosate has not proved to be efficacious. Research continues to explore which types of alcohol-dependent individual would benefit the most from treatment with naltrexone or acamprosate. The combination of the two medications demonstrated efficacy for treating alcohol dependence in one European study but not in a multi-site U.S. study. Another FDA-approved medication, disulfiram, is an aversive agent that does not diminish craving for alcohol. Disulfiram is most effective when given to those who are highly compliant or who are receiving their medication under supervision. Of the non-approved medications, topiramate is among the most promising, with a medium effect size in clinical trials. Another promising medication, baclofen, has shown efficacy in small trials. Serotonergic agents such as selective serotonin reuptake inhibitors and the serotonin-3 receptor antagonist, ondansetron, appear to be efficacious only among certain genetic subtypes of alcoholic. As neuroscientific research progresses, other promising medications, as well as medication combinations, for treating alcohol dependence continue to be explored. PMID:17880925

  20. Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.

    PubMed

    Cortese, A; Franciotta, D; Alfonsi, E; Visigalli, N; Zardini, E; Diamanti, L; Prunetti, P; Osera, C; Gastaldi, M; Berzero, G; Pichiecchio, A; Piccolo, G; Lozza, A; Piscosquito, G; Salsano, E; Ceroni, M; Moglia, A; Bono, G; Pareyson, D; Marchioni, E

    2016-04-15

    Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome. Demyelinating features of peripheral nerve damage fulfilling European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria for CIDP were found in 23 patients (74%), and spatial dissemination of demyelinating lesions on brain MRI fulfilling the 2010 McDonald criteria for multiple sclerosis (MS) in 11 (46%). Two thirds of the patients had a relapsing or progressive disease course, usually related to the appearance of new spinal cord lesions or worsening of the peripheral neuropathy, and showed unsatisfactory responses to high-dose corticosteroids and intravenous immunoglobulins. The clinical presentation of CCPD was severe in 22 patients (71%), who were left significantly disabled. Our data suggest that CCPD has heterogeneous features and shows frequent post-infectious onset, primary peripheral nervous system or central nervous system involvement, a monophasic or chronic disease course, inadequate response to treatments, and a generally poor outcome. We therefore conclude that the current diagnostic criteria for MS and CIDP may not fully encompass the spectrum of possible manifestations of CCPD, whose pathogenesis remains largely unknown. PMID:27000248

  1. Working Memory and Hearing Aid Processing: Literature Findings, Future Directions, and Clinical Applications

    PubMed Central

    Souza, Pamela; Arehart, Kathryn; Neher, Tobias

    2015-01-01

    Working memory—the ability to process and store information—has been identified as an important aspect of speech perception in difficult listening environments. Working memory can be envisioned as a limited-capacity system which is engaged when an input signal cannot be readily matched to a stored representation or template. This “mismatch” is expected to occur more frequently when the signal is degraded. Because working memory capacity varies among individuals, those with smaller capacity are expected to demonstrate poorer speech understanding when speech is degraded, such as in background noise. However, it is less clear whether (and how) working memory should influence practical decisions, such as hearing treatment. Here, we consider the relationship between working memory capacity and response to specific hearing aid processing strategies. Three types of signal processing are considered, each of which will alter the acoustic signal: fast-acting wide-dynamic range compression, which smooths the amplitude envelope of the input signal; digital noise reduction, which may inadvertently remove speech signal components as it suppresses noise; and frequency compression, which alters the relationship between spectral peaks. For fast-acting wide-dynamic range compression, a growing body of data suggests that individuals with smaller working memory capacity may be more susceptible to such signal alterations, and may receive greater amplification benefit with “low alteration” processing. While the evidence for a relationship between wide-dynamic range compression and working memory appears robust, the effects of working memory on perceptual response to other forms of hearing aid signal processing are less clear cut. We conclude our review with a discussion of the opportunities (and challenges) in translating information on individual working memory into clinical treatment, including clinically feasible measures of working memory. PMID:26733899

  2. Fibromatosis in a young Bernese Mountain Dog: clinical, imaging, and histopathological findings.

    PubMed

    Welle, Monika M; Sutter, Esther; Malik, Yasminda; Konar, Martin; Rüfenacht, Silvia; Howard, Judith E K

    2009-11-01

    A young, intact, male Bernese Mountain Dog was presented to the animal hospital for lameness and diffuse thickening of the soft tissue in the right hind limb. Magnetic resonance imaging revealed multiple, multilobular, space-occupying lesions within and between the muscles of the right femur. Biopsies taken from the lesions revealed an infiltrative mass composed mainly of collagen fibers and a low density of benign-appearing fibroblasts. These findings were compatible with a diagnosis of a fibromatosis. Taking the age of onset into account, infantile fibromatosis was most likely. A deep fibromatosis, similar to that seen in adults, could not be excluded based on histology. PMID:19901299

  3. A Bayesian Dose-finding Design for Oncology Clinical Trials of Combinational Biological Agents

    PubMed Central

    Cai, Chunyan; Yuan, Ying; Ji, Yuan

    2013-01-01

    Treating patients with novel biological agents is becoming a leading trend in oncology. Unlike cytotoxic agents, for which efficacy and toxicity monotonically increase with dose, biological agents may exhibit non-monotonic patterns in their dose-response relationships. Using a trial with two biological agents as an example, we propose a dose-finding design to identify the biologically optimal dose combination (BODC), which is defined as the dose combination of the two agents with the highest efficacy and tolerable toxicity. A change-point model is used to reflect the fact that the dose-toxicity surface of the combinational agents may plateau at higher dose levels, and a flexible logistic model is proposed to accommodate the possible non-monotonic pattern for the dose-efficacy relationship. During the trial, we continuously update the posterior estimates of toxicity and efficacy and assign patients to the most appropriate dose combination. We propose a novel dose-finding algorithm to encourage sufficient exploration of untried dose combinations in the two-dimensional space. Extensive simulation studies show that the proposed design has desirable operating characteristics in identifying the BODC under various patterns of dose-toxicity and dose-efficacy relationships. PMID:24511160

  4. A Bayesian Dose-finding Design for Oncology Clinical Trials of Combinational Biological Agents.

    PubMed

    Cai, Chunyan; Yuan, Ying; Ji, Yuan

    2014-01-01

    Treating patients with novel biological agents is becoming a leading trend in oncology. Unlike cytotoxic agents, for which efficacy and toxicity monotonically increase with dose, biological agents may exhibit non-monotonic patterns in their dose-response relationships. Using a trial with two biological agents as an example, we propose a dose-finding design to identify the biologically optimal dose combination (BODC), which is defined as the dose combination of the two agents with the highest efficacy and tolerable toxicity. A change-point model is used to reflect the fact that the dose-toxicity surface of the combinational agents may plateau at higher dose levels, and a flexible logistic model is proposed to accommodate the possible non-monotonic pattern for the dose-efficacy relationship. During the trial, we continuously update the posterior estimates of toxicity and efficacy and assign patients to the most appropriate dose combination. We propose a novel dose-finding algorithm to encourage sufficient exploration of untried dose combinations in the two-dimensional space. Extensive simulation studies show that the proposed design has desirable operating characteristics in identifying the BODC under various patterns of dose-toxicity and dose-efficacy relationships. PMID:24511160

  5. A method for automatic matching of multi-timepoint findings for enhanced clinical workflow

    NASA Astrophysics Data System (ADS)

    Raghupathi, Laks; Dinesh, MS; Devarakota, Pandu R.; Valadez, Gerardo Hermosillo; Wolf, Matthias

    2013-03-01

    Non-interventional diagnostics (CT or MR) enables early identification of diseases like cancer. Often, lesion growth assessment done during follow-up is used to distinguish between benign and malignant ones. Thus correspondences need to be found for lesions localized at each time point. Manually matching the radiological findings can be time consuming as well as tedious due to possible differences in orientation and position between scans. Also, the complicated nature of the disease makes the physicians to rely on multiple modalities (PETCT, PET-MR) where it is even more challenging. Here, we propose an automatic feature-based matching that is robust to change in organ volume, subpar or no registration that can be done with very less computations. Traditional matching methods rely mostly on accurate image registration and applying the resulting deformation map on the findings coordinates. This has disadvantages when accurate registration is time-consuming or may not be possible due to vast organ volume differences between scans. Our novel matching proposes supervised learning by taking advantage of the underlying CAD features that are already present and considering the matching as a classification problem. In addition, the matching can be done extremely fast and at reasonable accuracy even when the image registration fails for some reason. Experimental results∗ on real-world multi-time point thoracic CT data showed an accuracy of above 90% with negligible false positives on a variety of registration scenarios.

  6. Adolescent Outpatient Treatment and Continuing Care: Main Findings from a Randomized Clinical Trial*

    PubMed Central

    Godley, Susan H.; Garner, Bryan R.; Passetti, Lora L.; Funk, Rodney R.; Dennis, Michael L.; Godley, Mark D.

    2010-01-01

    This study evaluated the effectiveness and cost-effectiveness of two types of outpatient treatment with and without Assertive Continuing Care (ACC) for 320 adolescents with substance use disorders. Study participants were randomly assigned to one of four conditions: (a) Chestnut’s Bloomington Outpatient Treatment (CBOP) without ACC; (b) CBOP with ACC; (c) Motivational Enhancement Therapy/Cognitive Behavior Therapy-7 session model (MET/CBT7) without ACC; and (d) MET/CBT7 with ACC. All study conditions attained high rates of participant engagement and retention. Follow-up interviews were completed with over 90% of the adolescents at three, six, nine, and twelve months after treatment admission. There was a significant time by condition effect over 12 months, with CBOP having a slight advantage for average percentage of days abstinent. Unlike previous findings that ACC provided incremental effectiveness following residential treatment, there were no statistically significant findings with regard to the incremental effectiveness of ACC following outpatient treatment. Analysis of the costs of each intervention combined with its outcomes revealed that the most cost-effective condition was MET/CBT7 without ACC. PMID:20219293

  7. Clinical implication of computed tomography findings in patients with locally advanced squamous cell carcinoma of the larynx and hypopharynx.

    PubMed

    Ryu, In Sun; Lee, Jeong Hyun; Roh, Jong-Lyel; Choi, Seung-Ho; Nam, Soon Yuhl; Kim, Sang Yoon; Cho, Kyung-Ja

    2015-10-01

    Accurate tumor staging including involvement of laryngeal cartilage is important to treatment planning. Clinicians rely on imaging findings and determine initial laryngectomy for T4-stage cancer with functionless larynx or extralaryngeal spread (ELS). We examined the accuracy and prognostic value of preoperative CT findings for tumor staging in patients with locally advanced laryngeal and hypopharyngeal cancer. Ninety-four consecutive patients with clinically T3-T4-stage squamous cell carcinoma of the larynx or hypopharynx who underwent curative resection of primary tumor were reviewed. Preoperative CT findings were interpreted by a radiologist without pathologic information. Pathologic findings were used as the gold standard for correlating radiographic findings. CT imaging identified 23 (72%) of 32 cases of pathologically documented thyroid cartilage penetration and 24 (73%) of 33 cases of pathologically documented ELS. The positive predictive values for thyroid cartilage penetration and ELS were 70 and 80%, respectively. Pretreatment CT imaging up-staged 6 of 46 pT3 cases and all of 8 pT2 cases, while it down-staged 7 of 40 pT4 cases. The accuracy for clinical staging by CT imaging was 78%. Subglottic extension of the CT image was an independent variable for predicting thyroid cartilage penetration and ELS (P = 0.014). Thyroid cartilage penetration with or without ELS on CT scans is significantly associated with unfavorable DFS outcome of patients (P = 0.020). CT imaging is suboptimal in diagnosing TCP or ELS of advanced laryngeal cancer, but may be useful to predict patient survival by identifying clinically TCP. PMID:25149290

  8. Imaging and Clinical Findings in Patients with Aberrant Course of the Cervical Internal Carotid Arteries

    PubMed Central

    Muñoz, Alberto; De Vergas, Joaquín; Crespo, José

    2010-01-01

    Background and Purpose: Aberrrant course of the cervical internal carotid arteries (ICAs) may result in submucosal masses in the posterior pharyngeal wall, may cause confusion at physical examination, may be symptomatic, and can be at risk of surgical injury. The aim of this report is to present the clinical and imaging characteristics associated with aberrant course of the cervical portion of the ICAs. Methods: Imaging studies of 5.500 patients were prospectively selected from CT studies of the head and neck performed in a five years period, in which the course of the one or both ICAs at the level of the hypopharynx and oropharynx was assessed as aberrant by means of a proposed classification. We then reviewed the medical records to establish which symptoms were present and if these symptoms could be caused by these variations in the course of the ICAs. In selected cases, further studies including magnetic resonance (MR) imaging, MR angiography (MRA), or selective catheter angiography were obtained. Results: In our restricted classification, we found 14 (0.2%) patients who met the cervical ICA aberrancy criteria. In all patients contrast enhanced CT or CT angiography was performed, 4 also have had MRI and MRA, and in two additional catheter angiograms were performed. Mean age was 62 years. Eight patients were male and seven were female. Four patients (28%) were considered to have clinical symptoms related to aberrant course of the ICAs. In most of the symptomatic patients both ICAs had aberrant courses. Overall, the course of the right ICA was aberrant in 43%, the left ICA in 14%, and both in 43%. In 50% of the cases the aberrancy of the artery was focal (localized to the oropharynx or laryngopharynx) and in the other 50% it involved the entire cervical course of the ICA. Conclusions: In most of our patients variations in the course of the cervical portion of the ICA involved the right side and were asymptomatic, except with regard to potential surgical risks

  9. Clinical appearance of orofacial infections of odontogenic origin in relation to microbiological findings.

    PubMed Central

    Heimdahl, A; von Konow, L; Satoh, T; Nord, C E

    1985-01-01

    Fifty-eight patients with acute orofacial infections of odontogenic origin were classified into two groups with respect to the severity of infection. A total of 174 anaerobic and 22 aerobic bacterial strains were isolated. Anaerobic gram-negative rods were isolated more frequently from the patients with severe infections than from the patients with infections judged as mild (P less than 0.05). The occurrence of Fusobacterium nucleatum especially appeared to be associated with the severity of the infections (P less than 0.05). Penicillin resistance among the anaerobes was rarely found, while resistance to erythromycin was a common finding. All aerobic and anaerobic bacteria were susceptible to clindamycin, and all obligate anaerobic bacteria were susceptible to nitroimidazoles. PMID:4031041

  10. The Heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications

    PubMed Central

    Payne, R Mark

    2011-01-01

    Friedreich’s Ataxia is the most common inherited ataxia in man. It is a mitochondrial disease caused by severely reduced expression of the iron binding protein, frataxin. A large GAA triplet expansion in the human FRDA gene encoding this protein inhibits expression of this gene. It is inherited in an autosomal recessive pattern and typically diagnosed in childhood. The primary symptoms include severe and progressive neuropathy, and a hypertrophic cardiomyopathy that may cause death. The cardiomyopathy is difficult to treat and is frequently associated with arrhythmias, heart failure, and intolerance of cardiovascular stress, such as surgeries. Innovative approaches to therapy, such as histone deacetylase inhibitors, and enzyme replacement with cell penetrant peptide fusion proteins, hold promise for this and other similar mitochondrial disorders. This review will focus on the basic findings of this disease, and the cardiomyopathy associated with its diagnosis. PMID:21691434

  11. Concordance between Clinical Practice and Published Evidence: Findings from The National Dental Practice-Based Research Network

    PubMed Central

    Norton, Wynne E.; Funkhouser, Ellen; Makhija, Sonia K.; Gordan, Valeria V.; Bader, James D.; Rindal, D. Brad; Pihlstrom, Daniel J.; Hilton, Thomas J.; Frantsve-Hawley, Julie; Gilbert, Gregg H.

    2013-01-01

    Background. Documenting the gap between what is occurring in clinical practice and what published research suggests is an important step toward improving care. This study quantified concordance between clinical practice and published evidence across preventive, diagnostic and treatment procedures among a sample of dentists in the National Dental Practice-Based Research Network. Methods. Network dentists completed one questionnaire about their demographic characteristics and another about how they treat patients across 12 scenarios/clinical practice behaviors. Responses to each clinical practice were coded as consistent (i.e., ‘1’) or inconsistent (i.e., ‘0’) with published evidence, summed, and divided by the number of all non-missing to create an overall ‘concordance’ score, calculated as the mean percent of responses that were consistent with published evidence. Results. Analyses were limited to participants in the United States (N = 591). Mean concordance at the practitioner level was 62% (SD = 18); procedure-specific concordance ranged from 8-100%. Affiliation with a large group practice, being a female practitioner, and receiving a dental degree before 1990 were independently associated with high concordance (≥75%). Conclusions. Dentists reported a medium-range concordance between practice and evidence. Clinical Implications. Efforts to bring research findings into routine practice are needed. PMID:24379327

  12. The delayed sleep phase syndrome: clinical and investigative findings in 14 subjects.

    PubMed

    Alvarez, B; Dahlitz, M J; Vignau, J; Parkes, J D

    1992-08-01

    Fourteen subjects are described in whom a clinical diagnosis of the delayed sleep phase syndrome was made. The condition is multi-factorial, dependent on lifestyle, mood and personality, as well as on familial factors but no single factor in isolation is sufficient to explain the delay in sleep timing. Refusal to attend school may be important in some instances but will not explain cases with delayed age of onset. In half the subjects the delay in sleep phase started in childhood or adolescence. The syndrome causes severe disruption to education, work and family life. Polysomnography, motor activity monitoring of rest-activity cycles, plasma melatonin profiles and urinary melatonin metabolite excretion are normal. Different patterns of sleep phase delay seen in the syndrome include stable, progressive, irregular and non-24 hour sleep-wake cycles. These patterns may result from different social and other Zeitgebers ("time-markers", for example sunrise, sunset) in the normal environment. Treatment by forced sleep-wake phase advance or with melatonin resulted in a partial sleep-phase advance but this was not maintained on stopping treatment. PMID:1527536

  13. A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS.

    PubMed

    Solmaz, A Ece; Durmaz, B; Braekeleer, M D; Cogulu, O; Ozkinay, F

    2016-01-01

    A deletion of the distal long arm of chromosome 15 is generally reported with the formation of ring chromosome 15, whereas an isolated 15q deletion is rarely described. Here we report an 11 year-old girl, from non-consanguineous parents, who was referred to the Pediatric Genetics Department with growth retardation and multiple congenital abnormalities. In her medical history, she had a cleft palate, hip dislocation and crossed renal ectopia. Dysmorphological evaluation revealed a triangular face, low-set ears, fissured cleft tongue, micrognathia, proximally placed hypoplastic thumbs, genu valgus, 2-3 toe skin syndactyly, clinodactyly and nail hypoplasia. Speech problems were also noticed. The karyotype was normal. Subtelomeric fluorescent in-situ hybridisation (FISH) analysis showed a de novo terminal deletion about 755 kb. Furthermore, the breakpoint was located within the CHSY1 gene that is responsible for Temtamy preaxial brachydactyly syndrome which shares clinical features with 15qter deletion syndrome. To the best of our knowledge, this deletion is the smallest among reported patients. It is considered that the patient presented here significant contribution to phenotype-genotype correlation in 15q deletion patients. PMID:27192887

  14. Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.

    PubMed

    Al-Zadjali, S; Al-Tamemi, S; Elnour, I; AlKindi, S; Lapoumeroulie, C; Al-Maamari, S; Pathare, A; Dennison, D; Krishnamoorthy, R

    2015-02-01

    Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life-threatening bacterial and fungal infections. Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD on clinical (recurrent infections) and biochemical grounds (positive for both the nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR-1,2,3 assay), revealed that only one patient had X-linked CGD, with a large deletion involving both the gp91-phox gene (CYBB) and the McLeod gene (XK). The remaining 13 patients were all homozygotes from a previously described c.579G>A (p.Trp193X) mutation in the NCF1 gene on chromosome 7, responsible for autosomal recessive CGD (AR-CGD). Although X-linked CGD is the most common type of CGD disorder in most population groups, AR-CGD is the most prevalent type in Oman. PMID:24446915

  15. Expanding the Clinical Application of Fractional Radiofrequency Treatment: Findings on Rhytides, Hyperpigmentation, Rosacea, and Acne Redness.

    PubMed

    Hongcharu, Wichai; Gold, Michael

    2015-11-01

    While radiofrequency has been used medically for decades to treat a wide variety of conditions, its use therapeutically to target conditions affecting the skin is relatively new. With the development of fractional radiofrequency, which allows for the heat energy to be delivered in a more targeted manner through the use of needles as electrodes, this technique is now the preferred medical treatment option for many skin conditions given the reduction in recovery time and fewer number of reported side effects. The current study examined the clinical effectiveness of SmartScan(TM) Nano-Fractional RFTM treatment. Participants included 12 healthy female volunteers who reported varying degrees of rhytides, hyperpigmentation, or acne redness. Participants each received one treatment of SmartScan Nano-Fractional RF. The areas receiving treatment were photographed in a standardized way, using high-resolution macrophotography, at baseline (prior to receiving the treatment) and one month after treatment. Baseline and post-treatment photographs were then visually compared for treatment effects and analyzed through software-assisted quantification of variation in pigmentation and skin texture. The results indicated that this SmartScan technique for Nano-Fractional RF is effective in improving skin texture, and pigmentation. PMID:26580880

  16. Feline cutaneous neuroendocrine carcinoma (Merkel cell tumour): clinical and pathological findings.

    PubMed

    Bagnasco, Giorgio; Properzi, Roberto; Porto, Roberto; Nardini, Vincenzo; Poli, Alessandro; Abramo, Francesca

    2003-04-01

    A case of a feline Merkel cell tumour is described. An 8-year-old, female cat developed a round, alopecic, reddish mass on the nose. Wide excisional surgery was performed with cartilage resection. Histologically the mass was composed of solid islands of mostly basophilic densely packed cells with a scant cytoplasm, which was suggestive of a neuroendocrine origin. Results of immunohistochemical studies using antibodies against neurone-specific enolase, chromogranin, synaptophysin and pan-cytokeratin allowed classification of the lesion as a Merkel cell tumour. Ultrastructurally, dense core granules were identified in the cytoplasm. In a 2-year follow-up no relapses or metastases were observed. The clinical course recorded is in contrast with the malignant nature of a Merkel cell tumour recently described in a cat and of the human Merkel cell tumour, but is similar to the course of the canine Merkel cell tumour which is often benign. Early diagnosis along with the use of wide surgical excision might be considered an important factor in preventing relapse of this tumour. PMID:12662269

  17. Acute motor and sensory polyganglioradiculoneuritis in a cat: clinical and histopathological findings.

    PubMed

    Gutierrez-Quintana, Rodrigo; Cuesta-Garcia, Nerea; Wessmann, Annette; Johnston, Pamela; Penderis, Jacques

    2015-02-01

    Polyneuropathies can have a variety of clinical presentations and tend to be rare in cats. In this report we describe a 6-year-old domestic shorthair cat with an acute and rapidly progressive onset of lower motor neuron and sensory signs affecting the spinal and cranial nerves. Histopathological examination revealed moderate-to-severe multifocal inflammatory infiltrates at the ventral and dorsal nerve roots, and dorsal spinal ganglia at the level of the L4 and cauda equina. The type and severity of inflammation varied between nerve roots, being composed of mainly neutrophils in some and mainly lymphocytes and macrophages in others. Immunohistochemistry showed a combination of neutrophils, macrophages and lymphocytes infiltrating the nerve roots and ganglia. The majority of the lymphocytes were T lymphocytes; only a few B lymphocytes were seen. Neurons within the affected ganglia showed central chromatolysis and necrosis. Wallerian-like degeneration and demyelination were observed in the nerve roots. A sensory and motor polyganglioradiculoneuritis was diagnosed. An autoimmune process similar to the acute motor and sensory neuropathy subtype of Guillain-Barré syndrome in humans or an infection by an unidentified agent were considered most likely. PMID:24782456

  18. Oxidative enhancement of insulin receptor signaling: experimental findings and clinical implications.

    PubMed

    Dröge, Wulf

    2005-01-01

    Signaling through the insulin receptor and several other receptor tyrosine kinases is subject to redox regulation. Prolonged exposure to hydrogen peroxide impairs the action of insulin, and may account to some extent for the decreased insulin responsiveness in hyperglycemic diabetic patients. However, insulin receptor kinase (IRK) autophosphorylation and/or kinase activity were found to be markedly enhanced by a more limited exposure to hydrogen peroxide or by an oxidative shift in the thiol/disulfide redox status. Oxidative enhancement of IRK function may be mediated by two different mechanisms with similar effects, i.e., by direct oxidative activation of IRK activity or by oxidative inactivation of a protein tyrosine phosphatase, which otherwise down-regulates IRK-mediated signaling. As both mechanisms enhance IRK activity in the absence of insulin, there is a strong possibility that the background IRK activity in the postabsorptive period may be abnormally increased in certain oxidative conditions and thereby disturb the metabolism of glucose and other energy substrates. This remains to be tested. In line with the oxidative enhancement of IRK activity, clinical studies have shown that treatment with a thiol-containing antioxidant increases the postabsorptive glucose and/or insulin concentrations (i.e., the HOMA-R index) at least under certain conditions. This effect may have therapeutic implications. PMID:15998262

  19. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

    PubMed Central

    Edwards, Timothy J.; Sherr, Elliott H.; Barkovich, A. James

    2014-01-01

    The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field. PMID:24477430

  20. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    PubMed Central

    2012-01-01

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies. PMID:22958744

  1. Acute generalized exanthematous pustulosis: report of five cases and systematic review of clinical and histopathological findings.

    PubMed

    Vassallo, C; Derlino, F; Brazzelli, V; D'Ospina, R D; Borroni, G

    2014-06-01

    Acute generalized exanthematous pustulosis (AGEP) is a rare, drug-related pustular eruption usually starting from folds with edema and erythema and with subsequent spreading. Clinically AGEP is characterized by the sudden appearance of dozen of sterile, non follicular, small pustules on erythematous and edematous skin. Mild non erosive mucosal involvement, mostly oral, may sometimes occur. Fever, neutrophilia and peripheral blood eosinophilia (in a third of patients) are present. Other skin signs such as facial edema, purpura, target-like lesions and blisters have been described but are not typical for AGEP. Diagnostic criteria for AGEP were established by an international committee of experts, the European Study of Severe Cutaneous Adverse Reactions (EuroSCAR). The most relevant histopathological feature is represented by the detection of non-follicular subcorneal and/or intracorneal spongiform pustules that are usually large, contiguous and tend to coalesce. After elimination of the causative drug, pustules usually spontaneously disappear in a few days with desquamation and the reaction fully resolves within 15 days. Internal organs are not usually involved and no systemic treatment is required. Withdrawal of the culprit drug is mandatory. Although AGEP is a self-limiting disease with a favourable prognosis, secondary infections are a not infrequent complication in patients in poor general medical conditions. The reported mortality is about 5%. The most severe cases are associated with drug rechallenge. PMID:24819755

  2. Clinical and [18F] dopa PET findings in early Parkinson's disease.

    PubMed Central

    Morrish, P K; Sawle, G V; Brooks, D J

    1995-01-01

    Twenty seven patients with recent onset (mean symptom duration 22 (SD 14) months, Hoehn and Yahr score 1.8 (SD 0.7)) Parkinson's disease were studied with [18F]dopa PET. There was a correlation between putamen influx (Ki) and clinical rating, but not symptom duration. In 11 patients with hemi-Parkinson's disease of recent onset there were significant differences between normal (mean 0.0123 (SD 0.0023)), asymptomatic (mean 0.0099 (0.0020)) and symptomatic (mean 0.0070 (00.014)) putamen Kis. This suggests that Parkinson's disease has a widely variable rate of progression, and is most compatible with a short preclinical period. Symptom onset was estimated at a putamen Ki of between 57% and 80% of normal. Most ipsilateral putamen Ki values in early asymmetric Parkinson's disease fell within the normal range. The implication is that either the disease is not established in the ipsilateral putamen or that the technique is insufficiently sensitive to detect it. Discriminant analysis completely separated the normal and Parkinson's disease cohorts, but when a discriminant function from a previous study was used predictively four of the 27 patients with Parkinson's disease were incorrectly classified as normal. PMID:7500096

  3. Preventative and Therapeutic Probiotic Use in Allergic Skin Conditions: Experimental and Clinical Findings

    PubMed Central

    Özdemir, Öner; Göksu Erol, Azize Yasemin

    2013-01-01

    Probiotics are ingested live microbes that can modify intestinal microbial populations in a way that benefits the host. The interest in probiotic preventative/therapeutic potential in allergic diseases stemmed from the fact that probiotics have been shown to improve intestinal dysbiosis and permeability and to reduce inflammatory cytokines in human and murine experimental models. Enhanced presence of probiotic bacteria in the intestinal microbiota is found to correlate with protection against allergy. Therefore, many studies have been recently designed to examine the efficacy of probiotics, but the literature on the allergic skin disorders is still very scarce. Here, our objective is to summarize and evaluate the available knowledge from randomized or nonrandomized controlled trials of probiotic use in allergic skin conditions. Clinical improvement especially in IgE-sensitized eczema and experimental models such as atopic dermatitis-like lesions (trinitrochlorobenzene and picryl chloride sensitizations) and allergic contact dermatitis (dinitrofluorobenzene sensitization) has been reported. Although there is a very promising evidence to recommend the addition of probiotics into foods, probiotics do not have a proven role in the prevention or the therapy of allergic skin disorders. Thus, being aware of possible measures, such as probiotics use, to prevent/heal atopic diseases is essential for the practicing allergy specialist. PMID:24078929

  4. Demographic and Clinical Findings in Children Undergoing Bronchoscopy for Foreign Body Aspiration

    PubMed Central

    Safari, Mojgan; Manesh, Mohammad Reza Hashemi

    2016-01-01

    Background: Foreign body aspiration (FBA) is a significant cause of airway distress, mortality, and morbidity in children. Diagnosis of FBA can be challenging and is sometimes delayed for weeks or even months. If not diagnosed and treated promptly, FBA can result in serious consequences. Methods: For this retrospective study, we investigated the medical records of 89 children who underwent bronchoscopy for suspected FBA and recorded relevant demographic, clinical, and treatment data. Results: Of the 89 patients identified for this study, 51 had a definitive diagnosis of FBA. Among these patients, choking, chronic cough and wheezing, cyanosis, and dyspnea were the most frequent symptoms of FBA. The foreign bodies were located in the left bronchus (45.1%), the right bronchus (35.3%), the trachea (15.7%), and in both the right and left bronchi (3.9%). Seeds were the most prevalent foreign body, found in 39.2% of the patients. Conclusion: Lack of complete medical history in patients with suspected FBA is one of the main causes of delayed FBA diagnosis. Bronchoscopy is considered the definitive diagnostic method for FBA and should be conducted in all patients with suspected FBA because of the low risk of complications and reduced probability that FBA diagnosis and treatment will be delayed. PMID:27303219

  5. The Correlation of Endoscopic Findings and Clinical Features in Korean Patients with Scrub Typhus: A Cohort Study

    PubMed Central

    Lee, Jun; Kim, Dong-Min; Yun, Na Ra; Kim, Young Dae; Park, Chan Guk; Kim, Man Woo

    2016-01-01

    Scrub typhus is an infectious disease caused by Orientia tsutsugamushi-induced systemic vasculitis, but the involvement of the gastrointestinal tract and the endoscopic findings associated with scrub typhus are not well understood. We performed a prospective study and recommend performing esophagogastroduodenoscopy (EGD) for all possible scrub typhus patients, regardless of gastrointestinal symptoms. Gastrointestinal symptoms, endoscopic findings and clinical severity based on organ involvement and ICU admission were analyzed. Gastrointestinal symptoms occurred in up to 76.4% of scrub typhus patients. The major endoscopic findings were ulcers (43/127, 33.9%). Interestingly, 7.1% (9/127) of the patients presented with esophageal candidiasis. There was no correlation between the presence or absence of gastrointestinal symptoms and the endoscopic grade (P = 0.995). However, there was a positive correlation between the clinical severity and the endoscopic findings (P = 0.001). Sixty-three percent of the patients presented with erosion or ulcers on prospectively performed endoscopic evaluations, irrespective of gastrointestinal symptoms. Gastrointestinal symptoms did not reflect the need for endoscopy. Scrub typhus patients could have significant endoscopic abnormalities even in the absence of gastrointestinal symptoms. PMID:27195943

  6. Inflamed temporal artery: histologic findings in 354 biopsies, with clinical correlations.

    PubMed

    Cavazza, Alberto; Muratore, Francesco; Boiardi, Luigi; Restuccia, Giovanna; Pipitone, Nicolò; Pazzola, Giulia; Tagliavini, Elena; Ragazzi, Moira; Rossi, Giulio; Salvarani, Carlo

    2014-10-01

    We reviewed 888 temporal artery biopsies (TAB) performed in 871 patients in a single institution from January 1986 to December 2013. Forty-four biopsies (4.9%) were inadequate, 490 (55.2%) were devoid of inflammation and were considered negative, and 354 (39.9%) showed inflammation and were considered positive. On the basis of the localization of the inflammation, positive TABs were further classified into 4 categories: small vessel vasculitis (SVV), in which inflammation was limited to small periadventitial vessels devoid of muscular coat, with sparing of the temporal artery (32 cases, 9% of the positive biopsies); vasa vasorum vasculitis (VVV), in which inflammation was limited to the adventitial vasa vasorum (23 cases, 6.5% of the positive biopsies); inflammation limited to adventitia (ILA), in which inflammation extended from a strictly perivascular localization to the surrounding adventitia, without medial involvement (25 cases, 7% of the positive biopsies); and transmural inflammation (TMI), in which inflammation crossed the external elastic lamina and extended to the media (274 cases, 77.5% of the positive biopsies). In TMI, inflammation was generally more prominent between media and adventitia and mostly consisted of T lymphocytes and macrophages, with occasionally a significant number of plasma cells. Numerous eosinophils or neutrophils (with or without leucocytoclasia and suppurative necrosis), fibrinoid necrosis (limited to small branches of the temporal artery), and acute thrombosis were unusual, being present in 8%, 1.8%, 0.7%, and 9.5% of our biopsies with TMI, respectively. Giant cells, laminar necrosis, and calcifications prevailed along the internal elastic lamina and were present in 74.8%, 25.2%, and 20% of the biopsies with TMI, respectively. Among the 322 patients with positive TAB on whom we obtained clinical information, 317 had giant cell arteritis and 5 had a different disease: 3 (with SVV at histology) had ANCA-associated vasculitis, 1

  7. Bhopal Gas Tragedy: review of clinical and experimental findings after 25 years.

    PubMed

    Mishra, Pradyumna K; Samarth, Ravindra M; Pathak, Neelam; Jain, Subodh K; Banerjee, Smita; Maudar, Kewal K

    2009-01-01

    The Bhopal gas tragedy is undoubtedly one of the worst industrial disasters in the history of mankind resulting in mortality of 2500-6000 and debilitating over 200 000 people. Inhabitants in the township were exposed to different degrees and there are more than 500 000 registered victims that survived the tragedy. Clinical studies have shown chronic illnesses such as pulmonary fibrosis, bronchial asthma, chronic obstructive pulmonary disease (COPD), emphysema, recurrent chest infections, keratopathy and corneal opacities in exposed cohorts. Survivors continue to experience higher incidence of reported health problems including febrile illnesses, respiratory, neurologic, psychiatric and ophthalmic symptoms. In-utero exposure to methyl isocyanate in the first trimester of pregnancy caused a persistent immune system hyper-responsiveness, which was in an evident way genetically linked with the organic exposure. Recent experimental studies have provided mechanistic understanding of methyl isocyanate exposure at a molecular level. Immunotoxic implications, toxico-genomic effect, inflammatory response, elicitation of mitochondrial oxidative stress, chromosomal and microsatellite instability have been studied comprehensively in cultured mammalian cells. Besides providing a framework for understanding potential mechanisms of toxicity of a host of other exposures, these studies may also uncover unique abnormalities thereby stimulating efforts to design newer and effective diagnostic and therapeutic strategies. The authors recommend long-term monitoring of the affected area and use of appropriate methods of investigation that include well-designed cohort studies, case-control studies for rare condition, characterization of personal exposure and accident analysis to determine the possible elements of the gas cloud. PMID:19819837

  8. Autonomy, religion and clinical decisions: findings from a national physician survey

    PubMed Central

    Lawrence, R E; Curlin, F A

    2010-01-01

    Background Patient autonomy has been promoted as the most important principle to guide difficult clinical decisions. To examine whether practising physicians indeed value patient autonomy above other considerations, physicians were asked to weight patient autonomy against three other criteria that often influence doctors’ decisions. Associations between physicians’ religious characteristics and their weighting of the criteria were also examined. Methods Mailed survey in 2007 of a stratified random sample of 1000 US primary care physicians, selected from the American Medical Association masterfile. Physicians were asked how much weight should be given to the following: (1) the patient’s expressed wishes and values, (2) the physician’s own judgment about what is in the patient’s best interest, (3) standards and recommendations from professional medical bodies and (4) moral guidelines from religious traditions. Results Response rate 51% (446/879). Half of physicians (55%) gave the patient’s expressed wishes and values “the highest possible weight”. In comparative analysis, 40% gave patient wishes more weight than the other three factors, and 13% ranked patient wishes behind some other factor. Religious doctors tended to give less weight to the patient’s expressed wishes. For example, 47% of doctors with high intrinsic religious motivation gave patient wishes the “highest possible weight”, versus 67% of those with low (OR 0.5; 95% CI 0.3 to 0.8). Conclusions Doctors believe patient wishes and values are important, but other considerations are often equally or more important. This suggests that patient autonomy does not guide physicians’ decisions as much as is often recommended in the ethics literature. PMID:19332575

  9. [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

    PubMed

    Deschauer, M; Joshi, P R; Gläser, D; Hanisch, F; Stoltenburg, G; Zierz, S

    2011-12-01

    Recessive mutations in the anoctamin 5 (ANO5) gene have been recently identified in families with limb girdle muscular dystrophy (LGMD2L) and distal non-dysferlin Miyoshi myopathy. Anoctamin 5 is supposed to be a putative calcium-activated chloride channel. We report five German patients (four index patients) with muscle dystrophy due to mutations in the ANO5 gene. Sequencing of the ANO5 exons 5, 13 and 20 was performed to screen for a common c.191dupA mutation and two other reported mutations (c.1295C>G and p.R758C). The whole coding region of the ANO5 gene was sequenced to identify new mutations. Phenotypically, three patients showed LGMD and one patient Miyoshi type distal myopathy. One sibling had asymptomatic hyperCKemia. The age at onset was 64, 38 and 40 years in patients with LGMD and 23 years in the patient with distal myopathy. The four symptomatic patients showed remarkable asymmetric muscle involvement. There was marked CK elevation (11 to 30 times). Electron microscopy showed multifocal gaps in the sarcolemmal membrane. All patients harboured the common c.191dupA mutation in at least one allele. Two patients with LGMD were homozygous and the third patient and his asymptomatic sister were compound heterozygous for the c.191dupA mutation and a novel p.T548I mutation. The patient with distal myopathy harboured the p.R758C mutation in the second allele. Mutations in the ANO5 gene seem to be a relatively common cause of muscular dystrophy in Germany. Cases with late onset or asymptomatic hyperCKemia can occur. Clinically, asymmetric manifestation is typical. PMID:21739273

  10. Avascular necrosis of bone after allogeneic bone marrow transplantation: clinical findings, incidence and risk factors.

    PubMed

    Socié, G; Sélimi, F; Sedel, L; Frija, J; Devergie, A; Esperou Bourdeau, H; Ribaud, P; Gluckman, E

    1994-03-01

    In the present study we describe the incidence, clinical course, and management of avascular necrosis of bone following allogeneic bone marrow transplantation, and identify risk factors related to its development. All patients developing avascular necrosis of bone after allogeneic bone marrow transplantation between January 1974 and September 1992 were included in the analysis and were studied using the Hôpital Saint Louis Bone Marrow Transplant Database and hospital records. 27/727 allogeneic transplant recipients developed avascular necrosis leading to an 8.1% incidence at 5 years, by product limit estimate, ranging from 5% to 11.2%. Symptoms developed 119-1747 d (median 398 d) after transplantation. In these 27 patients a total of 52 joints were affected (mean 1.92 per patient, range 1-7). The hip joint was most often affected (69% of patients). All patients had joint pain that led to diagnosis by means of standard radiographs with or without the help of technetium-99 scans and/or magnetic resonance imaging. All but three patients received steroid therapy for acute graft-versus-host disease. Among 10 factors tested, three were shown to be significantly linked to an increased risk for developing avascular necrosis by multivariate analysis: male gender (relative risk (RR) 4.72, P = 0.002), age older than 16 (RR = 3.87, P = 0.004), and acute graft-versus-host disease requiring steroid therapy (RR = 6.30, P = 0.0002). 10 patients (37%) required joint replacement within 19 months (range 2-42) following diagnosis of avascular necrosis. In conclusion, avascular necrosis of bone is a frequent late complication of allogeneic bone marrow transplantation causing significant morbidity and requiring replacement surgery in one-third of affected patients. In this 18-year single-centre survey, older age, male gender and steroid therapy given for acute graft-versus-host disease were shown to independently increase the risk of avascular necrosis of bone. PMID:8043445

  11. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    SciTech Connect

    Abdollahi, Mohammad Karami-Mohajeri, Somayyeh

    2012-02-01

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  12. Thoracic Diseases Associated with HIV Infection in the Era of Antiretroviral Therapy: Clinical and Imaging Findings

    PubMed Central

    Prabhu, Somnath J.; Crothers, Kristina; Stern, Eric J.; Godwin, J. David; Pipavath, Sudhakar N.

    2014-01-01

    The human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) pandemic has entered its 4th decade. Since the introduction of combination antiretroviral therapy (ART) in 1996, the number of AIDS-related deaths has plateaued worldwide. Today, owing to the effectiveness of ART, the HIV-infected population is aging and HIV infection has become a chronic illness. Non-AIDS comorbidities are increasing, and the spectrum of HIV-related thoracic diseases is evolving. In developed countries, bacterial pneumonia has become more common than Pneumocystis pneumonia. Its imaging appearance depends on the responsible organism, most commonly Streptococcus pneumoniae. Mycobacterium tuberculosis continues to be a major threat. Its imaging patterns vary depending on CD4 count. Primary lung cancer and Hodgkin lymphoma are two important non–AIDS-defining malignancies that are increasingly encountered at chest imaging. Human herpesvirus 8, also known as Kaposi sarcoma–associated herpesvirus (KSHV), is strongly linked to HIV-related diseases, including Kaposi sarcoma, multicentric Castleman disease, KSHV inflammatory cytokine syndrome, and primary effusion lymphoma. Immune reconstitution inflammatory syndrome is a direct complication of ART whose manifestations vary with the underlying disease. Given the high rate of smoking among HIV-infected patients, chronic obstructive pulmonary disease is another important cause of morbidity and mortality. A high degree of suspicion is required for the early diagnosis of pulmonary arterial hypertension and lymphocytic interstitial pneumonia, given their nonspecific manifestations. Finally, multilocular thymic cyst manifests as a cystic anterior mediastinal mass. Recognition of the clinical and radiologic manifestations of these less traditional HIV-related diseases can expedite diagnosis and treatment in the ART era. © RSNA, 2014 PMID:25019430

  13. Clinical Audit of Women with Substance Use Disorders: Findings and Implications

    PubMed Central

    Malik, Kanika; Benegal, Vivek; Murthy, Pratima; Chand, Prabhat; Arun, K.; Suman, L. N.

    2015-01-01

    Aim: To examine the socio-demographic, clinical and psychosocial profiles of women seeking treatment for substance use disorders (SUDs) in order to understand their treatment needs. Materials and Methods: The psychiatric case records of 40 women with SUDs who sought consultation between the year 2012 and 2013 were analysed. Results: The mean age of the sample was 38 years (standard deviation, S.D = ± 7.24). Among these, 52.5% were married and 30% were separated or divorced. Mean age of onset of substance dependence was 28.68 years (S.D. = ± 7.02) with an average of 9.65 years (S.D = ± 7.69) of dependence. Alcohol dependence was present in 80% of the patients, followed by nicotine dependence in 54% of the patients. Co-morbid Axis I and Axis II disorders were present in 62.5% and 10% of the patients respectively. Childhood adverse experiences such as abuse and neglect were reported by 20% of the patients. The factors contributing to initiation and maintenance of substance use were marital discord and interpersonal conflicts (70%), influence of significant others (66%), death of a family members (10%) and other stressful life events (25%). Major consequences of substance use were substance-induced physical problems (62.5%) and interpersonal conflicts (40%). Data analysis indicated poor follow up and relapse rate of 50%. Conclusions: Adverse life events and interpersonal conflicts are significant contributing factors to substance use among women. The study has implications for planning gender sensitive, multi-dimensional treatment programmes for women seeking treatment for SUDs in India. PMID:25969606

  14. Clinical, ultrasonographic, and pathologic findings in 70 camels (Camelus dromedarius) with Johne’s disease

    PubMed Central

    Tharwat, Mohamed; Al-Sobayil, Fahd; Ali, Ahmed; Hashad, Mahmoud; Buczinski, Sébastien

    2012-01-01

    This study evaluated the use of ultrasonography for the diagnosis of Johne’s disease in camels (Camelus dromedarius). Seventy camels with confirmed Johne’s disease were examined by ultrasonography and subsequent necropsy; 15 healthy camels were included as controls. The most outstanding findings were visible enlargement of the mesenteric lymph nodes in 52 (74%) camels. Lesions had either echogenic (26%; n = 18) or anechoic (69%; n = 48) capsule and the contents were either anechoic (21%; n = 15), echogenic (27%; n = 19), or heterogeneous (46%; n = 32). Clumps of echogenic tissue interspersed with fluid pockets were imaged between the intestinal loops in 9 (13%) camels. There was mild, moderate, or severe thickening and corrugation of the intestinal wall, excessive anechoic fluid in the abdominal cavity in 18 (26%) camels, increased hepatic brightness in 30 (43%) camels, and pericardial and pleural effusions in 22 (31%) camels. Sensitivity values for detecting intestinal lesions and enlarged mesenteric lymph nodes were 95% and 84%, respectively. PMID:23115369

  15. Gallbladder Sludge in Dogs: Ultrasonographic and Clinical Findings in 200 Patients.

    PubMed

    Cook, Audrey K; Jambhekar, Anisha V; Dylewski, Allison M

    2016-01-01

    Echogenic luminal contents are often noted during ultrasonographic examination of the gallbladder (GB) in canine patients, but the significance of biliary sludge is not well understood. GB contents were evaluated during 200 sequential ultrasonographic scans performed at a veterinary school, and sludge was quantified using a 1-5 scale. GB volume was retrospectively estimated from stored images. Medical records were used to determine patient demographics, clinicopathologic findings, and diagnoses/disorders. The majority of dogs (66.5%) had some hyperechoic material within the GB. Four dogs were diagnosed with a mucocele. For statistical purposes, dogs with uniformly nonechogenic bile or minimal sludge (80.5%) were compared to those with >25% sludge (17.5%). Dogs with >25% sludge were significantly older than those with minimal sludge (8 versus 11 yr). Serum cholesterol and bilirubin concentrations and activities of both alkaline phosphatase and gamma-glutamyl transferase were not correlated with the presence of GB sludge. Dogs with spontaneous hyperadrenocorticism or hypothyroidism were more likely to have >25% sludge (odds ratio: 5.04). In addition, >25% sludge was associated with increased GB volume, suggesting that changes in GB function or contractility may impact the formation of biliary sludge in dogs. PMID:27008319

  16. Myopic Macular Retinoschisis in Teenagers: Clinical Characteristics and Spectral Domain Optical Coherence Tomography Findings.

    PubMed

    Sun, Chuan-Bin; You, Yong-Sheng; Liu, Zhe; Zheng, Lin-Yan; Chen, Pei-Qing; Yao, Ke; Xue, An-Quan

    2016-01-01

    To investigate the morphological characteristics of myopic macular retinoschisis (MRS) in teenagers with high myopia, six male (9 eyes) and 3 female (4 eyes) teenagers with typical MRS identified from chart review were evaluated. All cases underwent complete ophthalmic examinations including best corrected visual acuity (BCVA), indirect ophthalmoscopy, colour fundus photography, B-type ultrasonography, axial length measurement, and spectral-domain optical coherence tomography (SD-OCT). The average age was 17.8 ± 1.5 years, average refractive error was -17.04 ± 3.04D, average BCVA was 0.43 ± 0.61, and average axial length was 30.42 ± 1.71 mm. Myopic macular degenerative changes (MDC) by colour fundus photographs revealed Ohno-Matsui Category 1 in 4 eyes, and Category 2 in 9 eyes. Posterior staphyloma was found in 9 eyes. SD-OCT showed outer MRS in all 13 eyes, internal limiting membrane detachment in 7 eyes, vascular microfolds in 2 eyes, and inner MRS in 1 eye. No premacular structures such as macular epiretinal membrane or partially detached posterior hyaloids were found. Our results showed that MRS rarely occurred in highly myopic teenagers, and was not accompanied by premacular structures, severe MDC, or even obvious posterior staphyloma. This finding indicates that posterior scleral expansion is probably the main cause of MRS. PMID:27294332

  17. Incorporating adverse event relatedness into dose-finding clinical trial designs.

    PubMed

    Darssan, Darsy; Thompson, Mery H; Pettitt, Anthony N

    2014-03-30

    Dose-finding designs estimate the dose level of a drug based on observed adverse events. Relatedness of the adverse event to the drug has been generally ignored in all proposed design methodologies. These designs assume that the adverse events observed during a trial are definitely related to the drug, which can lead to flawed dose-level estimation. We incorporate adverse event relatedness into the so-called continual reassessment method. Adverse events that have 'doubtful' or 'possible' relationships to the drug are modelled using a two-parameter logistic model with an additive probability mass. Adverse events 'probably' or 'definitely' related to the drug are modelled using a cumulative logistic model. To search for the maximum tolerated dose, we use the maximum estimated toxicity probability of these two adverse event relatedness categories. We conduct a simulation study that illustrates the characteristics of the design under various scenarios. This article demonstrates that adverse event relatedness is important for improved dose estimation. It opens up further research pathways into continual reassessment design methodologies. PMID:24122859

  18. [Histologic finding of fracture healing using external fixation and its clinical significance].

    PubMed

    Stürmer, K M

    1984-06-01

    The histology of bone healing under external fixation of fractures is studied in 2 human bone specimen and in the sheep's tibia. Primary bone healing occurs under absolute stable fixation. The regular course shows secundary bone healing by endosteal and periosteal callus formation, caused by motion in the fracture gap. Nonunion results, if motion is not big enough to induce callus formation and if motion is too big to allow primary bone healing. So one of the main problems in external fixation of fractures is to find out the adequate dose of stability and motion in the fracture gap. External fixation does not disturb the vascular supply of bone. Intramedullary vessels, that are cut during the osteotomy of the sheep's tibia, are perfectly regenerated 4-5 weeks later. In the surroundings of the Schanz' screws, cortical remodelling is the biomechanical response of bone to strees, which is generated by external fixation. This cortical remodelling can reduce compression, originally applied to the bone. The indication and the timing for a change to internal fixation is discussed. PMID:6474602

  19. Randomized dose-finding clinical trial of oncolytic immunotherapeutic vaccinia JX-594 in liver cancer

    PubMed Central

    Heo, Jeong; Reid, Tony; Ruo, Leyo; Breitbach, Caroline J; Rose, Steven; Bloomston, Mark; Cho, Mong; Lim, Ho Yeong; Chung, Hyun Cheol; Kim, Chang Won; Burke, James; Lencioni, Riccardo; Hickman, Theresa; Moon, Anne; Lee, Yeon Sook; Kim, Mi Kyeong; Daneshmand, Manijeh; Dubois, Kara; Longpre, Lara; Ngo, Minhtran; Rooney, Cliona; Bell, John C; Rhee, Byung-Geon; Patt, Richard; Hwang, Tae-Ho; Kirn, David H

    2014-01-01

    Oncolytic viruses and active immunotherapeutics have complementary mechanisms of action (MOA) that are both self amplifying in tumors, yet the impact of dose on subject outcome is unclear. JX-594 (Pexa-Vec) is an oncolytic and immunotherapeutic vaccinia virus. To determine the optimal JX-594 dose in subjects with advanced hepatocellular carcinoma (HCC), we conducted a randomized phase 2 dose-finding trial (n = 30). Radiologists infused low-or high-dose JX-594 into liver tumors (days 1, 15 and 29); infusions resulted in acute detectable intravascular JX-594 genomes. Objective intrahepatic Modified Response Evaluation Criteria in Solid Tumors (mRECIST) (15%) and Choi (62%) response rates and intrahepatic disease control (50%) were equivalent in injected and distant noninjected tumors at both doses. JX-594 replication and granulocyte-macrophage colony-stimulating factor (GM-CSF) expression preceded the induction of anticancer immunity. In contrast to tumor response rate and immune endpoints, subject survival duration was significantly related to dose (median survival of 14.1 months compared to 6.7 months on the high and low dose, respectively; hazard ratio 0.39; P = 0.020). JX-594 demonstrated oncolytic and immunotherapy MOA, tumor responses and dose-related survival in individuals with HCC. PMID:23396206

  20. Randomized dose-finding clinical trial of oncolytic immunotherapeutic vaccinia JX-594 in liver cancer.

    PubMed

    Heo, Jeong; Reid, Tony; Ruo, Leyo; Breitbach, Caroline J; Rose, Steven; Bloomston, Mark; Cho, Mong; Lim, Ho Yeong; Chung, Hyun Cheol; Kim, Chang Won; Burke, James; Lencioni, Riccardo; Hickman, Theresa; Moon, Anne; Lee, Yeon Sook; Kim, Mi Kyeong; Daneshmand, Manijeh; Dubois, Kara; Longpre, Lara; Ngo, Minhtran; Rooney, Cliona; Bell, John C; Rhee, Byung-Geon; Patt, Richard; Hwang, Tae-Ho; Kirn, David H

    2013-03-01

    Oncolytic viruses and active immunotherapeutics have complementary mechanisms of action (MOA) that are both self amplifying in tumors, yet the impact of dose on subject outcome is unclear. JX-594 (Pexa-Vec) is an oncolytic and immunotherapeutic vaccinia virus. To determine the optimal JX-594 dose in subjects with advanced hepatocellular carcinoma (HCC), we conducted a randomized phase 2 dose-finding trial (n=30). Radiologists infused low- or high-dose JX-594 into liver tumors (days 1, 15 and 29); infusions resulted in acute detectable intravascular JX-594 genomes. Objective intrahepatic Modified Response Evaluation Criteria in Solid Tumors (mRECIST) (15%) and Choi (62%) response rates and intrahepatic disease control (50%) were equivalent in injected and distant noninjected tumors at both doses. JX-594 replication and granulocyte-macrophage colony-stimulating factor (GM-CSF) expression preceded the induction of anticancer immunity. In contrast to tumor response rate and immune endpoints, subject survival duration was significantly related to dose (median survival of 14.1 months compared to 6.7 months on the high and low dose, respectively; hazard ratio 0.39; P=0.020). JX-594 demonstrated oncolytic and immunotherapy MOA, tumor responses and dose-related survival in individuals with HCC. PMID:23396206

  1. Emergent and nonemergent nonbowel torsion: spectrum of imaging and clinical findings.

    PubMed

    Lubner, Meghan G; Simard, Marissa L; Peterson, Christine M; Bhalla, Sanjeev; Pickhardt, Perry J; Menias, Christine O

    2013-01-01

    Although bowel torsion is more commonly described in the medical literature, torsion can affect various organs within the chest, abdomen, and pelvis, including the testes, ovaries, gallbladder, spleen, heart, and pulmonary lobes. A structural abnormality such as a mass (a "lead point") that promotes twisting around a vascular pedicle often predisposes an organ or other anatomic structure to torsion. Radiologists play a central role in detecting torsion, identifying the anatomy involved, and triaging patients for either emergent surgical intervention, which may be critical for organ salvage, or conservative management. Imaging findings that are suggestive or indicative of emergent torsion include an ectopic location and enlargement or edema of part or all of an organ, decreased blood flow at color Doppler ultrasonography, and a twisted vascular pedicle. Blood flow to an organ is quickly compromised by the constriction of vessels within the twisted pedicle, and ischemia may result; a delay in diagnosis and surgical treatment can lead to complications such as infarction, hemorrhagic necrosis, and abscess. By contrast, torsion of mobile fatty structures such as testicular appendages, epiploic appendages, omental fat, and pericardial fat pads, although it may produce pain mimicking that in an emergent condition, requires only conservative management. Imaging features of this nonemergent condition include a fatty mass, which is usually located alongside the colon when torsion involves the omentum or an epiploic appendage, with associated inflammatory stranding and tenderness at palpation. The radiologist should be familiar with these manifestations of nonemergent torsion to prevent unnecessary surgical intervention. PMID:23322835

  2. Myopic Macular Retinoschisis in Teenagers: Clinical Characteristics and Spectral Domain Optical Coherence Tomography Findings

    PubMed Central

    Sun, Chuan-bin; You, Yong-sheng; Liu, Zhe; Zheng, Lin-yan; Chen, Pei-qing; Yao, Ke; Xue, An-quan

    2016-01-01

    To investigate the morphological characteristics of myopic macular retinoschisis (MRS) in teenagers with high myopia, six male (9 eyes) and 3 female (4 eyes) teenagers with typical MRS identified from chart review were evaluated. All cases underwent complete ophthalmic examinations including best corrected visual acuity (BCVA), indirect ophthalmoscopy, colour fundus photography, B-type ultrasonography, axial length measurement, and spectral-domain optical coherence tomography (SD-OCT). The average age was 17.8 ± 1.5 years, average refractive error was −17.04 ± 3.04D, average BCVA was 0.43 ± 0.61, and average axial length was 30.42 ± 1.71 mm. Myopic macular degenerative changes (MDC) by colour fundus photographs revealed Ohno-Matsui Category 1 in 4 eyes, and Category 2 in 9 eyes. Posterior staphyloma was found in 9 eyes. SD-OCT showed outer MRS in all 13 eyes, internal limiting membrane detachment in 7 eyes, vascular microfolds in 2 eyes, and inner MRS in 1 eye. No premacular structures such as macular epiretinal membrane or partially detached posterior hyaloids were found. Our results showed that MRS rarely occurred in highly myopic teenagers, and was not accompanied by premacular structures, severe MDC, or even obvious posterior staphyloma. This finding indicates that posterior scleral expansion is probably the main cause of MRS. PMID:27294332

  3. Epidemiology and clinical findings of colorectal carcinoma in two tertiary care hospitals in Benghazi, Libya

    PubMed Central

    Elzouki, Abdel-Naser; Habel, Salah; Alsoaeiti, Saeid; Abosedra, Adam; Khan, Fahmi

    2014-01-01

    Aim: The aim is to determine the pattern of patients with colorectal cancer (CRC) seen in two tertiary hospitals in Benghazi, Libya. Materials and methods: The cohort includes all patients of CRC who were presented between January 2007 and December 2009 to the Oncology Department, Aljomhoria Hospital and 7th October Hospital, Benghazi. Patient's age, gender, clinical presentation, location of cancer involvement, and histopathologic diagnosis were reviewed. Tumor staging was carried out according to Astler Coller modification of Duke's system, dividing it into stage A to C depending upon the extent of local involvement and regional node spread. Stage D was added to account for distant metastasis in accordance with Turnbull modification. Results: A total of 152 patients with CRC were included, 84 males (55%) and 68 females (45%) with a male to female ratio of 1.2:1.0. The mean age was 57.4 ± 12.92 years (range 21–87 years). 18 (11.8%) patients were below 40 years of age. The most common presenting symptoms were rectal bleeding and abdominal pain and were together present in 71% of the patients. The majority (67.8%) of tumors arise from rectum and sigmoid colon. More than one-third of the patients had poorly differentiated adenocarcinoma. Sixty patients (39.5%) presented in stage D, whereas 30.9% (47/152) and 29.6% (45/152) of patients were in stage B and stage C, respectively. None of the patients had stage A at presentation. The radiological evaluation showed presence of liver metastasis in 14 patients (9.2%) and pulmonary metastasis in two patients (1.3%). Anemia was found in 56 patients (36.8%). It was more common in females (P = 0.01) and in the right sided tumors (66.7%) than left sided tumors (29.5%) (P = 0.001). Conclusion: The majority of CRC patients in Benghazi were diagnosed in locally advanced or metastatic stage. In order to achieve early detection of CRC, a comprehensive cancer education program and screening of high risk population for CRC should be

  4. A bioactive dental luting cement--its retentive properties and 3-year clinical findings.

    PubMed

    Jefferies, Steven R; Pameijer, Cornelis H; Appleby, David C; Boston, Daniel; Lööf, Jesper

    2013-02-01

    A clinical validation study was conducted to determine the performance of a new bioactive dental cement (Ceramir C&B, Doxa Dental AB) for permanent cementation. The cement is a new formulation class, which is a hybrid material comprised of calcium aluminate and glass-ionomer components. A total of 38 crowns and bridges were cemented in 17 patients; 31 of the abutment teeth were vital and seven were non-vital. Six restorations were bridges with a total of 14 abutment teeth (12 vital/ two non-vital). One fixed splint comprising two abutment teeth was also included. Preparation parameters were recorded, as well as cement characteristics such as working time, setting time, seating characteristics, and ease of cement removal. Baseline data were recorded for the handling of the cement, gingival inflammation, and pre-cementation sensitivity. Post-cementation parameters included post-cementation sensitivity, gingival tissue reaction, marginal integrity, and discoloration. All patients were seen for recall examinations at 30 days and 6 months. Fifteen of 17 subjects and 13 of 17 patients were also available for subsequent comprehensive 1- and 2-year recall examination, and 13 patients were available for a 3-year recall examination. Restorations available for the 3-year recall examination included 14 single-unit full-coverage crown restorations, four three-unit bridges comprising eight abutments, and one two-unit splint. Three-year recall data yielded no loss of retention, no secondary caries, no marginal discolorations, and no subjective sensitivity. All restorations rated excellent for marginal integrity. Average visual analogue scale (VAS) score for tooth sensitivity decreased from 7.63 mm at baseline to 0.44 mm at 6-month recall, 0.20 mm at 1-year recall, and 0.00 mm at 2- and 3-year recall. Average gingival index (GI) score for gingival inflammation decreased from 0.56 at baseline to 0.11 at 6-month recall, 0.16 at 1-year recall, 0.21 at 2-year recall, and 0.07 at 3

  5. Female genital schistosomiasis due to Schistosoma haematobium. Clinical and parasitological findings in women in rural Malawi.

    PubMed

    Kjetland, E F; Poggensee, G; Helling-Giese, G; Richter, J; Sjaastad, A; Chitsulo, L; Kumwenda, N; Gundersen, S G; Krantz, I; Feldmeier, H

    1996-12-30

    A total of 51 women with urinary schistosomiasis haematobium were examined in order to identify diagnostic indicators for female genital schistosomiasis (FGS). Patients were selected at random from the outpatient department of the Mangochi District Hospital, Malawi. The medical histories were recorded according to a pre-designed questionnaire and the women were subjected to a thorough gynaecological examination including colposcopy and photographic documentation of lesions. Microscopy of genital biopsies revealed that 33 of the 51 women had S. haematobium ova in cervix, vagina and/or vulva in addition to the presence of ova in urine. The most sensitive diagnostic procedure was beside microscopic examination of a wet cervix biopsy crushed between two glass slides, which revealed 25 of the 33 genital infections. There was a significant correlation between the size of genital lesions and the number of ova counted per mm2 of crushed tissue. Women with FGS had significantly more tumours in the vulva than women with schistosomiasis limited to the urinary tract. Most of the observed genital pathology could easily be identified by the naked eye, but colposcopic examination yielded valuable additional information like the demonstration of neovascularisation around cervical sandy patches. Few of the symptoms previously regarded as indicators for FGS could be linked to the presence of schistosome ova in genital tissue. Husbands of infertile women with FGS had children with other women significantly more often than husbands of women who only had urinary schistosomiasis. This, together with the finding that the majority of the divorced women had FGS, indicates that the manifestation of this disease may have implications for the marital and sexual life of the affected women. PMID:9028409

  6. Caveat Oncologist: Clinical Findings and Consequences of Distributing Counterfeit Erythropoietin in the United States

    PubMed Central

    Qureshi, Zaina P.; Norris, LeAnn; Sartor, Oliver; McKoy, June M.; Armstrong, John; Raisch, Dennis W.; Garg, Vishvas; Stafkey-Mailey, Dana; Bennett, Charles Lee

    2012-01-01

    Purpose: Counterfeit pharmaceuticals pose risks domestically. Because of their cost, cancer pharmaceuticals are vulnerable. We review findings from a domestic counterfeiting episode involving erythropoietin and outline anticounterfeiting recommendations for policy makers, patients, and health care professionals. Materials and Methods: Information was obtained on patients who received counterfeit erythropoietin, its distribution, and criminal investigations into counterfeiting networks. Interview sources included a physician, an attorney, employees of the Florida Department of Health and Human Services and the US Food and Drug Administration's (FDA) Office of Criminal Investigation, manufacturers, and wholesalers. Other sources included the book “Dangerous Doses,” LexisNexis (search terms “counterfeit” and “erythropoietin”) and the FDA database. Results: Counterfeit product consisted of 2,000 U vials with counterfeit labels denoting 40,000 U. The counterfeiters, in collaboration with a Miami pharmacy, purchased 110,000 erythropoietin 2,000 U vials and affixed counterfeit labels to each vial. Products were then sold via the pharmaceutical “gray market” to wholesalers, then pharmacy chains. Investigations by Florida government officials implicated 17 persons, all of whom were found guilty of trafficking in counterfeit pharmaceuticals. Despite the large size of the operation, the FDA received reports of only 12 patients who had received counterfeit erythropoietin and detailed information for only two individuals. A 17-year-old liver transplant recipient and a 61-year-old patient with breast cancer experienced loss of efficacy after receiving counterfeit erythropoietin. Conclusion: Wider use of FDA anticounterfeit initiatives, limiting pharmaceutical suppliers to reputable distributors, and educating providers and patients about signs of counterfeit drugs can improve the safety of cancer pharmaceuticals. PMID:23077434

  7. Clinical presentation, diagnostic findings and long-term survival in large breed dogs with meningoencephalitis of unknown aetiology.

    PubMed

    Cornelis, I; Volk, H A; De Decker, S

    2016-08-01

    Although several studies indicate that meningoencephalitis of unknown aetiology (MUA) might affect every dog breed at every age, little is known about clinical presentation, diagnostic findings and long-term survival in large breed dogs. The aim of this study was therefore to compare the clinical presentation, diagnostic findings and long-term survival between large and small/medium breed dogs diagnosed with MUA. One hundred and eleven dogs met the inclusion criteria. 28 (25 per cent) dogs were considered large breed dogs compared with 83 (75 per cent) small/medium breed dogs. Large breed dogs presented significantly more often with a decreased mentation. Age, gender, duration of clinical signs prior to diagnosis, presence of seizures or cluster seizures, variables on complete blood count and cerebrospinal fluid analysis, and all variables on MRI were not significantly different between small/medium and large breed dogs. Median survival time was 281 and 106 days for the large and small/medium breed dogs, respectively, with no significant difference in survival curves for both groups. Although considered not typically affected by MUA, 25 per cent of dogs included in this study were considered large breed dogs. Therefore, MUA should be included in the differential diagnosis for large breed dogs presenting with intracranial neurological signs. If diagnosed with MUA, large breed dogs also carried a guarded prognosis. PMID:27165997

  8. Demographic and clinical factors associated with radiographic severity of first metatarsophalangeal joint osteoarthritis: cross-sectional findings from the Clinical Assessment Study of the Foot

    PubMed Central

    Menz, H.B.; Roddy, E.; Marshall, M.; Thomas, M.J.; Rathod, T.; Myers, H.; Thomas, E.; Peat, G.M.

    2015-01-01

    Summary Objective To explore demographic and clinical factors associated with radiographic severity of first metatarsophalangeal joint osteoarthritis (OA) (First MTPJ OA). Design Adults aged ≥50 years registered with four general practices were mailed a Health Survey. Responders reporting foot pain within the last 12 months were invited to undergo a clinical assessment and weight-bearing dorso-plantar and lateral radiographs of both feet. Radiographic first MTPJ OA in the most severely affected foot was graded into four categories using a validated atlas. Differences in selected demographic and clinical factors were explored across the four radiographic severity subgroups using analysis of variance (ANOVA) and ordinal regression. Results Clinical and radiographic data were available from 517 participants, categorised as having no (n = 105), mild (n = 228), moderate (n = 122) or severe (n = 62) first MTPJ OA. Increased radiographic severity was associated with older age and lower educational attainment. After adjusting for age, increased radiographic first MTPJ OA severity was significantly associated with an increased prevalence of dorsal hallux and first MTPJ pain, hallux valgus, first interphalangeal joint (IPJ) hyperextension, keratotic lesions on the dorsal aspect of the hallux and first MTPJ, decreased first MTPJ dorsiflexion, ankle/subtalar joint eversion and ankle joint dorsiflexion range of motion, and a trend towards a more pronated foot posture. Conclusions This cross-sectional study has identified several dose–response associations between radiographic severity of first MTPJ OA and a range of demographic and clinical factors. These findings highlight the progressive nature of first MTPJ OA and provide insights into the spectrum of presentation of the condition in clinical practice. PMID:25450852

  9. Quadriceps tendinosis and patellar tendinosis in professional beach volleyball players: sonographic findings in correlation with clinical symptoms.

    PubMed

    Pfirrmann, Christian W A; Jost, Bernhard; Pirkl, Christof; Aitzetmüller, Gernot; Lajtai, Georg

    2008-08-01

    The purpose was to assess quadriceps and patellar tendinosis in professional beach volleyball players and to correlate ultrasound findings with clinical symptoms. During a grand-slam beach volleyball tournaments all 202 athletes (100 men and 102 women) were invited to participate at this study. Sixty-one athletes (38 male, mean age 29.6, 23 female, mean age 27.1) were included. The dominant leg was right in 51 (84%) and left in ten athletes (16%). Lysholm knee score and pain during the game was assessed using a visual analogue scale. Sonography of the quadriceps tendon and the patellar tendon was performed by a blinded sonographer. Sonographic findings were compared between both legs and correlated to clinical findings using a regression analysis. Quadriceps tendinosis was diagnosed in 13 (21%, dominant leg)/21 (34%, non-dominant leg), patellar tendinosis in 13(21%)/18(30%). Only sonographic findings at the quadriceps tendon were significantly associated with pain: thickness of the quadriceps tendon (mean diameter 6.9 mm/7.1 mm, significant for both legs P = 0.011/P = 0.030), abnormal echo texture (11/16; P = 0.001/P = 0.228), areas with positive power Doppler signals (mean number 0.3/0.4; P = 0.049/0.346), calcifications (mean number: 0.9/1.1; P = 0.021/0.864). A relationship between findings at patellar tendon was not found. Quadriceps tendinosis is as common as patellar tendinosis in professional beach volleyball players. Thickening and structure alteration of the quadriceps tendon is associated with anterior knee pain during beach volleyball. PMID:18386014

  10. Thoracolumbar intradural disc herniation in eight dogs: clinical, low-field magnetic resonance imaging, and computed tomographic myelography findings.

    PubMed

    Tamura, Shinji; Doi, Shoko; Tamura, Yumiko; Takahashi, Kuniaki; Enomoto, Hirokazu; Ozawa, Tsuyoshi; Uchida, Kazuyuki

    2015-01-01

    Intradural disc herniation is a rarely reported cause of neurologic deficits in dogs and few published studies have described comparative imaging characteristics. The purpose of this retrospective cross sectional study was to describe clinical and imaging findings in a group of dogs with confirmed thoracolumbar intradural disc herniation. Included dogs were referred to one of four clinics, had acute mono/paraparesis or paraplegia, had low field magnetic resonance imaging (MRI) and/or computed tomographic myelography, and were diagnosed with thoracolumbar intradural disc herniation during surgery. Eight dogs met inclusion criteria. The prevalence of thoracolumbar intradural disc herniation amongst the total population of dogs that developed a thoracolumbar intervertebral disc herniation and that were treated with a surgical procedure was 0.5%. Five dogs were examined using low-field MRI. Lesions that were suspected to be intervertebral disc herniations were observed; however, there were no specific findings indicating that the nucleus pulposus had penetrated into the subarachnoid space or into the spinal cord parenchyma. Thus, the dogs were misdiagnosed as having a conventional intervertebral disc herniation. An intradural extramedullary disc herniation (three cases) or intramedullary disc herniation (two cases) was confirmed during surgery. By using computed tomographic myelography (CTM) for the remaining three dogs, an intradural extramedullary mass surrounded by an accumulation of contrast medium was observed and confirmed during surgery. Findings from this small sample of eight dogs indicated that CTM may be more sensitive for diagnosing canine thoracolumbar intradural disc herniation than low-field MRI. PMID:25263808

  11. Dissociative trance disorder: clinical and Rorschach findings in ten persons reporting demon possession and treated by exorcism.

    PubMed

    Ferracuti, S; Sacco, R; Lazzari, R

    1996-06-01

    Although dissociative trance disorders, especially possession disorder, are probably more common than is usually though, precise clinical data are lacking. Ten persons undergoing exorcisms for devil trance possession state were studied with the Dissociative Disorders Diagnostic Schedule and the Rorschach test. These persons had many traits in common with dissociative identity disorder patients. They were overwhelmed by paranormal experiences. Despite claiming possession by a demon, most of them managed to maintain normal social functioning. Rorschach findings showed that these persons had a complex personality organization: Some of them displayed a tendency to oversimplify stimulus perception whereas others seemed more committed to psychological complexity. Most had severe impairment of reality testing, and 6 of the participants had an extratensive coping stile. In this group of persons reporting demon possession, dissociative trance disorder seems to be a distinct clinical manifestation of a dissociative continuum, sharing some features with dissociative identity disorder. PMID:8667145

  12. [Clinical studies in working populations: value and significance of anamnestic findings, clinical tests and instrumental tests for the diagnosis of musculoskeletal disorders of the upper extremities].

    PubMed

    De Marco, F; Menoni, O; Ricci, M G; Bonaiuti, D; Colombini, D; Occhipinti, E

    1996-01-01

    The authors discuss the value and significance of symptoms in WMSDs, considering that the anamnestic threshold proposed in epidemiological investigations cannot be used as clinical and diagnosing criteria. Some useful clinical procedures are suggested for cases where there is a suspicion of musculo-skeletal disorders of the cervical spine and upper limbs, bearing in mind that they are to be applied within the framework of health surveillance programmes undertaken by health care practitioners who are not specialists in orthopaedics, physiatrics or neurology. The recommendations for instrumental tests and specialist referrals are also discussed for the various disorders. The authors also provide flow charts for the diagnostic procedures pertaining to WMSDs. The Appendix shows a sample patient chart illustrating the proposed procedures; it also permits the findings to be encoded so that they can be stored in a dedicated database. The codes for diagnosing WMSDs are also reported for the same epidemiological purposes. PMID:9148113

  13. Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings.

    PubMed

    Baiardi, Simone; Capellari, Sabina; Ladogana, Anna; Strumia, Silvia; Santangelo, Mario; Pocchiari, Maurizio; Parchi, Piero

    2015-01-01

    The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9%) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM1+2C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-wave complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of "probable" CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2). PMID:26682685

  14. Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings

    PubMed Central

    Baiardi, Simone; Capellari, Sabina; Ladogana, Anna; Strumia, Silvia; Santangelo, Mario; Pocchiari, Maurizio; Parchi, Piero

    2015-01-01

    The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9%) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM1+2C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-wave complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of “probable” CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2). PMID:26682685

  15. Age, Predisposing Diseases, and Ultrasonographic Findings in Determining Clinical Outcome of Acute Acalculous Inflammatory Gallbladder Diseases in Children.

    PubMed

    Yi, Dae Yong; Chang, Eun Jae; Kim, Ji Young; Lee, Eun Hye; Yang, Hye Ran

    2016-10-01

    We evaluated clinical factors such as age, gender, predisposing diseases and ultrasonographic findings that determine clinical outcome of acute acalculous inflammatory gallbladder diseases in children. The patients were divided into the four age groups. From March 2004 through February 2014, clinical data from 131 children diagnosed as acute acalculous inflammatory gallbladder disease by ultrasonography were retrospectively reviewed. Systemic infectious diseases were the most common etiology of acute inflammatory gallbladder disease in children and were identified in 50 patients (38.2%). Kawasaki disease was the most common predisposing disease (28 patients, 21.4%). The incidence was highest in infancy and lowest in adolescence. The age groups were associated with different predisposing diseases; noninfectious systemic disease was the most common etiology in infancy and early childhood, whereas systemic infectious disease was the most common in middle childhood and adolescence (P = 0.001). Gallbladder wall thickening was more commonly found in malignancy (100%) and systemic infection (94.0%) (P = 0.002), whereas gallbladder distension was more frequent in noninfectious systemic diseases (60%) (P = 0.000). Ascites seen on ultrasonography was associated with a worse clinical course compared with no ascites (77.9% vs. 37.7%, P = 0.030), and the duration of hospitalization was longer in patients with ascites (11.6 ± 10.7 vs. 8.0 ± 6.6 days, P = 0.020). In conclusion, consideration of age and predisposing disease in addition to ultrasonographic gallbladder findings in children suspected of acute acalculous inflammatory gallbladder disease might result in better outcomes. PMID:27550491

  16. Classical Lagrange Functions for the SME

    NASA Astrophysics Data System (ADS)

    Russell, N.

    2011-12-01

    A technique is presented for finding the classical Lagrange function corresponding to a given dispersion relation. This allows us to study the classical analogue of the Standard-Model Extension. Developments are discussed.

  17. Clinical Features, Image Findings, and Prognosis of Inflammatory Pseudotumor of the Liver: A Multicenter Experience of 45 Cases

    PubMed Central

    Park, Jun Young; Lim, Young-Suk; Park, Jang Won; Kim, Seung Up; Min, Yang Won; Gwak, Geum-Youn; Paik, Yong-Han; Lee, Joon Hyoek; Koh, Kwang Cheol; Paik, Seung Woon; Yoo, Byung Chul

    2014-01-01

    Background/Aims Inflammatory pseudotumor (IPT) of the liver is a rare disease characterized by chronic infiltration of inflammatory cells. However, the clinical characteristics and outcomes of IPT remain uncertain. Methods Clinical features, image findings, and outcomes of 55 patients with histologically proven IPT were evaluated. Results They consisted of 26 men and 19 women with median age of 65 years. Serum carcinoembryonal antigen and carbohydrate antigen 19-9 levels were normal in 42 patients (93.3%). Enhanced CT scans indicated poorly defined peripheral enhancement (82.5%) at the arterial phase and poorly defined hyperattenuating lesions with internal hypoattenuating areas at the equilibrium phase (77.0%). Gadolinium-enhancement MRI revealed poorly defined peripheral rim-like enhancement (77.8%). Ten patients underwent surgical resection and 35 were treated conservatively with or without antibiotics. No recurrence was noted after surgical resection during follow-up (1 to 48 months). In all patients who received conservative treatment, complete resolution or size reduction was noted during follow-up (1 to 192 months). Conclusions CT and MRI provide clues to the diagnosis of IPT in patients with liver masses and normal tumor markers. However, due to the lack of pathognomonic findings, the clinician's suspicion and histological diagnosis are necessary to make an accurate diagnosis of IPT. PMID:24516702

  18. Combined cutaneous findings with segmental odontomaxillary dysplasia: Review of the literature and proposal of a new clinical classification.

    PubMed

    Yassin, Othman M; Rihani, Farouk B

    2008-01-01

    Segmental odontomaxillary dysplasia is characterized by variability of its clinical and radiological features, and may mimic other fibro-osseous lesions. We describe the case of a segmental odontomaxillary dysplasia in a 12-year-old male comprising of dermal, gingival, bony, and dental abnormalities. He presented with left midfacial diffuse hyperkeratotic erythematous lesion, ipsilateral hypopigmentation of upper lip with indistinct vermilion border, left-sided facial swelling, unilateral maxillary enlargement and ipsilateral failure of eruption of permanent teeth. Radiographic imaging showed abnormal bony trabeculation, impacted and missing teeth. Histopathologic findings showed characteristic features of segmental odontomaxillary dysplasia. We herein report a case of this rare unusual anomaly, review the literature, and propose a new clinical classification based on the limited number of previously reported cases in an attempt to categorize the clinical variants of the condition which might be helpful when treatment options are to be considered. Clinicians should be aware of its presence when encountering patients presenting with a facial cutaneous lesion especially when it is associated with facial asymmetry and unresponsive to treatment. PMID:23745055

  19. Combined cutaneous findings with segmental odontomaxillary dysplasia: Review of the literature and proposal of a new clinical classification

    PubMed Central

    Yassin, Othman M; Rihani, Farouk B

    2008-01-01

    Segmental odontomaxillary dysplasia is characterized by variability of its clinical and radiological features, and may mimic other fibro-osseous lesions. We describe the case of a segmental odontomaxillary dysplasia in a 12-year-old male comprising of dermal, gingival, bony, and dental abnormalities. He presented with left midfacial diffuse hyperkeratotic erythematous lesion, ipsilateral hypopigmentation of upper lip with indistinct vermilion border, left-sided facial swelling, unilateral maxillary enlargement and ipsilateral failure of eruption of permanent teeth. Radiographic imaging showed abnormal bony trabeculation, impacted and missing teeth. Histopathologic findings showed characteristic features of segmental odontomaxillary dysplasia. We herein report a case of this rare unusual anomaly, review the literature, and propose a new clinical classification based on the limited number of previously reported cases in an attempt to categorize the clinical variants of the condition which might be helpful when treatment options are to be considered. Clinicians should be aware of its presence when encountering patients presenting with a facial cutaneous lesion especially when it is associated with facial asymmetry and unresponsive to treatment. PMID:23745055

  20. AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY POSITION STATEMENT ON THYROID DYSFUNCTION CASE FINDING.

    PubMed

    Hennessey, James V; Garber, Jeffrey R; Woeber, Kenneth A; Cobin, Rhoda; Klein, Irwin

    2016-02-01

    Hypothyroidism and hyperthyroidism can be readily diagnosed and can be treated in a safe, cost-effective manner. Professional organizations have given guidance on how and when to employ thyroid-stimulating hormone testing for the detection of thyroid dysfunction. Most recently, the United States Preventive Services Task Force did not endorse screening for thyroid dysfunction based on a lack of proven benefit and potential harm of treating those with thyroid dysfunction, which is mostly subclinical disease. The American Association of Clinical Endocrinologists (AACE) is concerned that this may discourage physicians from testing for thyroid dysfunction when clinically appropriate. Given the lack of specificity of thyroid-associated symptoms, the appropriate diagnosis of thyroid disease requires biochemical confirmation. The Thyroid Scientific Committee of the AACE has produced this White Paper to highlight the important difference between screening and case-based testing in the practice of clinical medicine. We recommend that thyroid dysfunction should be frequently considered as a potential etiology for many of the nonspecific complaints that physicians face daily. The application and success of safe and effective interventions are dependent on an accurate diagnosis. We, therefore, advocate for an aggressive case-finding approach, based on identifying those persons most likely to have thyroid disease that will benefit from its treatment. PMID:26848631

  1. Ultrasonographic (TCS) and clinical findings in overlapping phenotype of essential tremor and Parkinson’s disease (ET-PD)

    PubMed Central

    2014-01-01

    Background Essential tremor (ET) and Parkinson’s disease (PD) are considered distinct disorders. The aim of the study was to look for a link or any distinguishing features by transcranial sonography (TCS), together with the clinical examination findings in a group of patients with overlapping phenotype of ET and PD (ET-PD). Methods A prospective observational case-control study was carried out from the 3rd January 2011 until 30th January 2013 at the Hospital of Lithuanian University of Health Sciences. The final study group consisted of 15 patients with ET-PD, 116 patients with ET-only and 141 patients with PD-only. The control group included 101 subjects. Clinical diagnosis was of a diagnostic standard. Results The main ultrasonographic findings in the ET-PD group were similar to those of the PD-only: hyperechogenicity of the substantia nigra (66.7%, p < 0.001) and nuclei raphe interruptions/absence (38.5%, p < 0.001). The single distinguishing TCS finding in ET-PD group was a lentiform nucleus hyperechogenicity (26.7%), however this was only significant when compared to controls (p = 0.006). An asymmetrical onset of symptoms (73.3%) in ET-PD group was characteristic to PD-only. The ET-PD patients had the longest disease duration (median 6 years, p < 0.001), the most frequent rate of positive family history (53.3%, p = 0.005), rather low prevalence of cogwheel rigidity (26.7%, p < 0.001), and higher mean Hoehn & Yahr scores compared to PD-only (2.6 ± 0.8 vs. 1.8 ± 0.8, p = 0.012). Conclusions The main TCS findings of the present study in patients with overlapping ET-PD phenotype were similar to the PD-only group. The highest positive family history rate among ET-PD patients indicates a strong hereditary predisposition and needs genetic underpinnings. Some ET patients, who look like they may be developing co-morbid PD clinically, may have an alternative diagnosis for Parkinsonism, which could be delineated by TCS examination

  2. Ultrasound Findings in Hand Joints Involvement in Patients with Psoriatic Arthritis and Its Correlation with Clinical DAS28 Score

    PubMed Central

    Naranje, Priyanka; Prakash, Mahesh; Sharma, Aman; Dogra, Sunil; Khandelwal, Niranjan

    2015-01-01

    Objective. To determine the frequency of the various ultrasound findings in hand joints in patients with psoriatic arthritis and correlate grayscale and Power Doppler ultrasonography findings with Disease Activity Score 28. Methods. This prospective study was performed in 30 patients. Ultrasound evaluation of 28 joints of both hands was undertaken and various findings were recorded including synovial hypertrophy, Power Doppler abnormality, soft tissue thickening, tendonitis, joint effusion, periosteal reaction, and erosions. Composite ultrasound scores and Disease Activity Score 28 were calculated and compared. Spearman correlation was used to see relationship between the ultrasound and DAS28 scores. Results. Ultrasound detected more abnormalities in the hand joints than did clinical examination. The frequency of various ultrasound abnormalities was as follows: Synovial hypertrophy was seen in 100%, Power Doppler abnormality suggesting hypervascularity was seen in 36.7%, soft tissue thickening was seen in 66.7%, periosteal reaction was seen in 33.3%, erosions were seen in 30% (mostly in DIP and PIP joints), and flexor tendonitis was seen in 6.7% of patients. Significant correlation was found between Disease Activity Score 28 and grayscale joint score (GSJS) (Spearman's ρ: 0.499; P: 0.005), grayscale joint count (GSJC) (ρ: 0.398; P: 0.029), and Power Doppler joint score (PDJS) (ρ: 0.367; P: 0.046). There was a statistically significant difference between remission and low disease activity group and moderate disease activity group in terms of GSJC, GSJS, PDJC, and PDJS (P < 0.05). These ultrasound measures were higher in moderate disease activity zone patients. Conclusion. Ultrasound is a useful modality for the objective assessment of psoriatic arthritis. Ultrasound including Power Doppler can be used as a modality for assessment of severity of psoriatic arthritis as it correlates with the clinical scoring. PMID:26858846

  3. Radiologically isolated syndrome: an uncommon finding at a university clinic in a high-prevalence region for multiple sclerosis

    PubMed Central

    Granberg, Tobias; Martola, Juha; Aspelin, Peter; Kristoffersen-Wiberg, Maria; Fredrikson, Sten

    2013-01-01

    Objective The improved availability of MRI in medicine has led to an increase in incidental findings. Unexpected brain MRI findings suggestive of multiple sclerosis (MS) without typical symptoms of MS were recently defined as radiologically isolated syndrome (RIS). The prevalence of RIS is uncertain. The aim of this study was to determine the prevalence of RIS at a university hospital in a region with a high prevalence for MS and describe the long-term prognosis of the identified patients. Design Retrospective cohort study conducted in 2012. Setting All brain MRI examinations performed at Karolinska University Hospital in Huddinge, Stockholm, Sweden during 2001 were retrospectively screened by a single rater for findings fulfilling the Okuda criteria. The sample year was chosen in order to establish the long-term prognosis of the patients identified. The examinations of interest were re-evaluated according to the Barkhof criteria by a neuroradiologist with long experience in MS. Participants In total 2105 individuals were included in the study. Ages ranged from 0 to 90 years with a median age of 48 years. Only one patient with RIS was identified, equivalent to a prevalence of 0.05% in the studied population, or 0.15% among patients aged 15–40 years. The patient with RIS developed symptoms consistent with MS within 3 months accompanied with radiological progression and was diagnosed with MS. Conclusions RIS, according to present criteria, is an uncommon finding in a tertiary hospital setting in a high-prevalence region for MS where awareness and clinical suspicion of MS is common. In order to study the prognosis of RIS, multicentre studies, or case–control studies are recommended. PMID:24189079

  4. What classicality? Decoherence and Bohr's classical concepts

    NASA Astrophysics Data System (ADS)

    Schlosshauer, Maximilian; Camilleri, Kristian

    2011-03-01

    Niels Bohr famously insisted on the indispensability of what he termed "classical concepts." In the context of the decoherence program, on the other hand, it has become fashionable to talk about the "dynamical emergence of classicality" from the quantum formalism alone. Does this mean that decoherence challenges Bohr's dictum—for example, that classical concepts do not need to be assumed but can be derived? In this paper we'll try to shed some light down the murky waters where formalism and philosophy cohabitate. To begin, we'll clarify the notion of classicality in the decoherence description. We'll then discuss Bohr's and Heisenberg's take on the quantum—classical problem and reflect on different meanings of the terms "classicality" and "classical concepts" in the writings of Bohr and his followers. This analysis will allow us to put forward some tentative suggestions for how we may better understand the relation between decoherence-induced classicality and Bohr's classical concepts.

  5. Clinical evaluation for lymphoproliferative disease prompted by finding of IgM warm autoanti-IT in two cases.

    PubMed

    Leger, R M; Lowder, F; Dungo, M C; Chen, W; Mason, H M; Garratty, G

    2009-01-01

    Anti-IT is an unusual specificity originally described as a naturally occurring cold agglutinin. The antibody reacts strongly with cord RBCs, weakly with adult I RBCs, and most weakly with the rare adult i RBCs. IgG anti-IT in patients with hemolytic anemia has been associated with Hodgkin's lymphoma. Difficulties in blood grouping tests and the presence of a warm reactive agglutinin in samples from two patients with hemolytic anemia led to further serologic studies and the identification of anti-IT. In both cases, the anti-IT was a rarely encountered IgM warm reactive agglutinin; in one case, the IgG component was also anti-IT, whereas in the second case the IgG antibody was broadly reactive. The unusual serologic finding of anti-IT prompted further clinical evaluation for lymphoproliferative disease in these two patients. PMID:19927621

  6. Correlation of clinical and angiographic findings in brain ischemia with regional cerebral blood flow measured by the xenon inhalation technique

    SciTech Connect

    Awad, I.; Little, J.R.; Furlan, A.J.; Weinstein, M.

    1982-07-01

    Eighty-eight patients with brain ischemia underwent cerebral angiography and measurement of regional cerebral blood flow (rCBF) after /sup 133/Xe inhalation. A fast compartment flow rate and an initial slope index were computed for each detector and for each hemisphere. The clinical presentation, angiographic findings, and rCBF results were then examined for significant correlations. Patients with hemispheric infarction most frequently showed bilateral diffusely decreased rCBF. In patients with transient ischemic attacks, no specific pattern emerged. Patients with unilateral internal carotid artery occlusion frequently hd bilateral diffusely decreased rCBF. Patients with severe internal carotid artery stenosis were more likely to show decreased rCBF than were patients with mild or moderate stenosis. The initial slope index seemed to be a more sensitive indicator of brain ischemia than the fast compartment flow rate. The possible pathophysiological significance and relationship to patient management of the various rCBF patterns are discussed.

  7. Giant Serous Cystadenoma of the Pancreas (⩾10 cm): The Clinical Features and CT Findings

    PubMed Central

    Zhou, Jun; Zeng, Yu-Rong; Lin, Xiao-Feng; Min, Jun

    2016-01-01

    Purpose. To report the clinical features and CT manifestations of giant pancreatic serous cystadenoma (≥10 cm). Methods. We retrospectively reviewed the clinical features and CT findings of 6 cases of this entity. Results. All 6 patients were symptomatic. The tumors were 10.2 cm–16.5 cm (median value, 13.0 cm). CT imaging revealed that all 6 cases showed microcystic appearances (n = 5) or mixed microcystic and macrocystic appearances (n = 1). Five patients with tumors at the distal end of the pancreas received distal pancreatectomy. Among these 5 patients, 2 patients underwent partial transverse colon resection or omentum resection due to close adhesion. One patient whose tumor was located in the pancreatic head underwent pancreaticoduodenectomy; however, due to encasement of the portal and superior mesenteric veins, the tumor was incompletely resected. One patient had abundant draining veins on the tumor surface and suffered large blood loss (700 mL). After 6–49 months of follow-up the 6 patients showed no tumor recurrence or signs of malignant transformation. Conclusions. Giant pancreatic serous cystadenoma necessitates surgical resection due to large size, symptoms, uncertain diagnosis, and adjacent organ compression. The relationship between the tumors and the neighboring organs needs to be carefully assessed before operation on CT image. PMID:27610132

  8. Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children

    PubMed Central

    2013-01-01

    Mitochondrial dysfunction manifests in many forms during childhood. There is no effective therapy for the condition; hence symptomatic therapy is the only option. The effect of symptomatic therapy are not well known. We present clinical course, diagnosis and effect of current treatments for six children suffering from mitochondrial encephalomyopathy identified by clinical demonstrations, brain MRI findings and DNA mutations. Two were male and four were female. Their age ranged between 2 and 17 years. Skeletal muscle biopsies were obtained in three and one showed misshaped and enlarged mitochondria under electron microscope. mtDNA mutation frequency was >30%. Five children were diagnosed with MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) and one with Leigh’s syndrome (LS). All were given cocktail and symptomatic treatments. One of the five MELAS children died from severe complications. The other four MELAS children remain alive; four showed improvement, and one remained unresponsive. Of the four who showed improvement, two do not have any abnormal signs and the other two have some degree of motor developmental delay and myotrophy. The LS child is doing well except for ataxia. Until better therapy such as mitochondrial gene therapy is available, cocktail and symptomatic treatments could at least stabilize these children. PMID:24069936

  9. Giant Serous Cystadenoma of the Pancreas (⩾10 cm): The Clinical Features and CT Findings.

    PubMed

    Liu, Qing-Yu; Zhou, Jun; Zeng, Yu-Rong; Lin, Xiao-Feng; Min, Jun

    2016-01-01

    Purpose. To report the clinical features and CT manifestations of giant pancreatic serous cystadenoma (≥10 cm). Methods. We retrospectively reviewed the clinical features and CT findings of 6 cases of this entity. Results. All 6 patients were symptomatic. The tumors were 10.2 cm-16.5 cm (median value, 13.0 cm). CT imaging revealed that all 6 cases showed microcystic appearances (n = 5) or mixed microcystic and macrocystic appearances (n = 1). Five patients with tumors at the distal end of the pancreas received distal pancreatectomy. Among these 5 patients, 2 patients underwent partial transverse colon resection or omentum resection due to close adhesion. One patient whose tumor was located in the pancreatic head underwent pancreaticoduodenectomy; however, due to encasement of the portal and superior mesenteric veins, the tumor was incompletely resected. One patient had abundant draining veins on the tumor surface and suffered large blood loss (700 mL). After 6-49 months of follow-up the 6 patients showed no tumor recurrence or signs of malignant transformation. Conclusions. Giant pancreatic serous cystadenoma necessitates surgical resection due to large size, symptoms, uncertain diagnosis, and adjacent organ compression. The relationship between the tumors and the neighboring organs needs to be carefully assessed before operation on CT image. PMID:27610132

  10. Posterosuperior glenoid internal impingement of the shoulder in the overhead athlete: pathogenesis, clinical features and MR imaging findings.

    PubMed

    Fessa, Chris Kon; Peduto, Anthony; Linklater, James; Tirman, Phillip

    2015-04-01

    Posterosuperior glenoid internal impingement (PGII) is an impingement syndrome of the shoulder that is most commonly seen in the throwing or overhead athlete. The supraspinatus can be normally compressed or impinged between the greater tuberosity and the posterosuperior labrum in the abduction and external rotation position. However, repetitive throwing and biomechanical abnormalities may lead to the intensification of this contact and to the clinical and pathological picture of PGII. The injured athlete usually complains of poor throwing performance and pain located in the posterosuperior aspect of the shoulder. Two main theories regarding the aetiology of PGII have been postulated with differing initial mechanisms. The MRI features of PGII have been described and include supraspinatus and anterior infraspinatus partial undersurface tears, bony changes at the humeral head and labral pathology, including a variation of the type II superior labrum from anterior to posterior lesion. This pictorial essay aims to present cases illustrating the pathophysiology, clinical features and recently described MRI findings, and discuss some of the MR protocol considerations. PMID:25586665

  11. Diagnostic accuracy of pre-operative imaging findings in presumed clinical T1a renal cell carcinomas

    PubMed Central

    NAKASHIMA, KAZUFUMI; KITAGAWA, YASUHIDE; IZUMI, KOUJI; MIZOKAMI, ATSUSHI; GABATA, TOSHIFUMI; NAMIKI, MIKIO

    2016-01-01

    Despite the development of recent imaging modalities, certain pathological misdiagnoses remain for surgical specimens of presumed small renal cell carcinomas (RCCs). In the present study, a retrospective analysis of benign pathological lesions diagnosed as small RCC prior to surgery was performed. In total, the cases of 196 sporadic renal tumors that was surgically treated as clinical T1a RCCs were reviewed, and the accuracy of the pathological diagnoses was calculated. The pre-operative findings for benign pathological lesions was investigated, and the lesions were observed in 13 (6.63%) of the 196 tumors. Pre-operative computed tomography images were obtained in all cases, and magnetic resonance images were available in 10 cases. The diagnostic accuracy of imaging modalities was significantly lower in the tumors with a diameter of ≤20 mm. In all cases, the possible pathological diagnosis of RCC could not be excluded even by retrospective imaging analysis. Several benign pathological lesions were found in small renal masses presumed to be clinical T1a RCC. In conclusion, there may be limitations to the pre-operative imaging for certain types of small renal mass. PMID:27123087

  12. Retained Fetal Membranes in C57BL/6NCrl Mice: Description of Clinical Case Presentations and Related Epidemiologic Findings

    PubMed Central

    Johnson, Jenelle K; Vemulapalli, Tracy H; Van Alstine, William G; Roberts, Christopher S; Garner, Joseph P; Hickman, Debra L

    2011-01-01

    During a triinstitutional study to test whether individually ventilated caging systems impaired welfare and reproduction relative to static housing systems, varying numbers (2 to 7) of discoid-shaped, fleshy structures were found in utero of 17 postpartum female mice on study. Further investigation revealed these structures to be retained fetal membranes (RFM). A point prevalence of 24.3% was calculated based on a total population of 70 postpartum female mice on study. This finding was preceded by 3 typical clinical presentations, which are described here. We designed a case-control matched cross-sectional epidemiologic study to identify associated risk factors and antemortem indicators of RFM. Housing on the bottom shelves and attachment to the rack systems were factors associated with a diagnosis of the condition. In addition, neutrophilia, monocytosis, lymphopenia, and decreasing hematocrit values were associated with the diagnosis of RFM. These results confirmed that a CBC can be a useful antemortem screening test for the identification of affected mice. We conclude that RFM are likely an incidental finding although they may present concurrent with other pregnancy complications. PMID:22330577

  13. Quantum localization of classical mechanics

    NASA Astrophysics Data System (ADS)

    Batalin, Igor A.; Lavrov, Peter M.

    2016-07-01

    Quantum localization of classical mechanics within the BRST-BFV and BV (or field-antifield) quantization methods are studied. It is shown that a special choice of gauge fixing functions (or BRST-BFV charge) together with the unitary limit leads to Hamiltonian localization in the path integral of the BRST-BFV formalism. In turn, we find that a special choice of gauge fixing functions being proportional to extremals of an initial non-degenerate classical action together with a very special solution of the classical master equation result in Lagrangian localization in the partition function of the BV formalism.

  14. The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation.

    PubMed

    Courcoutsakis, Nikos A; Tatsi, Christina; Patronas, Nicholas J; Lee, Chiy-Chia Richard; Prassopoulos, Panos K; Stratakis, Constantine A

    2013-02-01

    The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the major clinical manifestation of the syndrome, followed by multicentric heart myxomas, which occur at a young age and are the lethal component of the disease. Myxomas may also occur on the skin (eyelid, external ear canal and nipple) and the breast. Breast myxomas, when present, are multiple and bilateral among female CNC patients, an entity which is also described as "breast-myxomatosis" and is a characteristic feature of the syndrome. Affected CNC patients often have tumours of two or more endocrine glands, including primary pigmented nodular adrenocortical disease (PPNAD), an adrenocorticotropin hormone (ACTH)-independent cause of Cushing's syndrome, growth hormone (GH)-secreting and prolactin (PRL)-secreting pituitary adenomas, thyroid adenomas or carcinomas, testicular neoplasms (large-cell calcifying Sertoli cell tumours [LCCSCT]) and ovarian lesions (cysts and cancinomas). Additional infrequent but characteristic manifestations of CNC are psammomatous melanotic schwannomas (PMS), breast ductal adenomas (DAs) with tubular features, and osteochondromyxomas or "Carney bone tumour". Teaching Points • Almost 60 % of the known CNC kindreds have a germline inactivating mutations in the PRKAR1A gene. • Spotty skin pigmentation is the major clinical manifestation of CNC, followed by heart myxomas. • Indicative imaging signs of PPNAD are contour abnormality and hypodense spots within the gland. • Two breast tumours may present in CNC: myxoid fibroadenomas (breast myxomatosis) and ductal adenomas. • Additional findings of CNC are psammomatous melanotic schwannomas

  15. GENETIC POLYMORPHISMS AFFECTING SUSCEPTIBILITY TO MERCURY NEUROTOXICITY IN CHILDREN: SUMMARY FINDINGS FROM THE CASA PIA CHILDREN's AMALGAM CLINICAL TRIAL

    PubMed Central

    Woods, James S.; Heyer, Nicholas J.; Russo, Joan E.; Martin, Michael D.; Farin, Federico M.

    2014-01-01

    Mercury (Hg) is neurotoxic, and children may be particularly susceptible to this effect. A current major challenge is identification of children who may be uniquely susceptible to Hg toxicity because of genetic predisposition. We examined the possibility that common genetic variants that are known to affect neurologic functions or Hg handling in adults would modify the adverse neurobehavioral effects of Hg exposure in children. Three hundred thirty subjects who participated as children in the recently completed Casa Pia Clinical Trial of Dental Amalgams in Children were genotyped for 27 variants of 13 genes that are reported to affect neurologic functions and/or Hg disposition in adults. Urinary Hg concentrations, reflecting Hg exposure from any source, served as the Hg exposure index. Regression modeling strategies were employed to evaluate potential associations between allelic status for individual genes or combinations of genes, Hg exposure, and neurobehavioral test outcomes assessed at baseline and for 7 subsequent years during the clinical trial. Among boys, significant modification of Hg effects on neurobehavioral outcomes over a broad range of neurologic domains was observed with variant genotypes for 4 of 13 genes evaluated. Modification of Hg effects on a more limited number of neurobehavioral outcomes was also observed for variants of another 8 genes. Cluster analyses suggested some genes interacting in common processes to affect Hg neurotoxicity. In contrast, significant modification of Hg effects on neurobehavioral functions among girls with the same genotypes was substantially more limited. These observations suggest increased susceptibility to the adverse neurobehavioral effects of Hg among children, particularly boys, with genetic variants that are relatively common to the general human population. These findings advance public health goals to identify factors underlying susceptibility to Hg toxicity and may contribute to strategies for preventing

  16. Dural arteriovenous fistulas of the hypoglossal canal: systematic review on imaging anatomy, clinical findings, and endovascular management.

    PubMed

    Spittau, Björn; Millán, Diego San; El-Sherifi, Saad; Hader, Claudia; Singh, Tejinder Pal; Motschall, Edith; Vach, Werner; Urbach, Horst; Meckel, Stephan

    2015-04-01

    Dural arteriovenous fistulas (DAVFs) of the hypoglossal canal (HCDAVFs) are rare and display a complex angiographic anatomy. Hitherto, they have been referred to as various entities (for example, "marginal sinus DAVFs") solely described in case reports or small series. In this in-depth review of HCDAVF, the authors describe clinical and imaging findings, as well as treatment strategies and subsequent outcomes, based on a systematic literature review supplemented by their own cases (120 cases total). Further, the involved craniocervical venous anatomy with variable venous anastomoses is summarized. Hypoglossal canal DAVFs consist of a fistulous pouch involving the anterior condylar confluence and/or anterior condylar vein with a variable intraosseous component. Three major types of venous drainage are associated with distinct clinical patterns: Type 1, with anterograde drainage (62.5%), mostly presents with pulsatile tinnitus; Type 2, with retrograde drainage to the cavernous sinus and/or orbital veins (23.3%), is associated with ocular symptoms and may mimic cavernous sinus DAVF; and Type 3, with cortical and/or perimedullary drainage (14.2%), presents with either hemorrhage or cervical myelopathy. For Types 1 and 2 HCDAVF, transvenous embolization demonstrates high safety and efficacy (2.9% morbidity, 92.7% total occlusion). Understanding the complex venous anatomy is crucial for planning alternative approaches if standard transjugular access is impossible. Transarterial embolization or surgical disconnection (morbidity 13.3%-16.7%) should be reserved for Type 3 HCDAVFs or lesions with poor venous access. A conservative strategy could be appropriate in Type 1 HCDAVF for which spontaneous regression (5.8%) may be observed. PMID:25415064

  17. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

    PubMed Central

    MacLaren, Robert E; Groppe, Markus; Barnard, Alun R; Cottriall, Charles L; Tolmachova, Tanya; Seymour, Len; Clark, K Reed; During, Matthew J; Cremers, Frans P M; Black, Graeme C M; Lotery, Andrew J; Downes, Susan M; Webster, Andrew R; Seabra, Miguel C

    2014-01-01

    Summary Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an adeno-associated viral (AAV) vector encoding REP1 (AAV.REP1) in patients with this disease. Methods In a multicentre clinical trial, six male patients (aged 35–63 years) with choroideremia were administered AAV.REP1 (0·6–1·0×1010 genome particles, subfoveal injection). Visual function tests included best corrected visual acuity, microperimetry, and retinal sensitivity tests for comparison of baseline values with 6 months after surgery. This study is registered with ClinicalTrials.gov, number NCT01461213. Findings Despite undergoing retinal detachment, which normally reduces vision, two patients with advanced choroideremia who had low baseline best corrected visual acuity gained 21 letters and 11 letters (more than two and four lines of vision). Four other patients with near normal best corrected visual acuity at baseline recovered to within one to three letters. Mean gain in visual acuity overall was 3·8 letters (SE 4·1). Maximal sensitivity measured with dark-adapted microperimetry increased in the treated eyes from 23·0 dB (SE 1·1) at baseline to 25·3 dB (1·3) after treatment (increase 2·3 dB [95% CI 0·8–3·8]). In all patients, over the 6 months, the increase in retinal sensitivity in the treated eyes (mean 1·7 [SE 1·0]) was correlated with the vector dose administered per mm2 of surviving retina (r=0·82, p=0·04). By contrast, small non-significant reductions (p>0·05) were noted in the control eyes in both maximal sensitivity (–0·8 dB [1·5]) and mean sensitivity (–1·6 dB [0·9]). One patient in whom the vector was not administered to the fovea re-established variable eccentric fixation that included the ectopic island of surviving retinal pigment epithelium that had been exposed to vector. Interpretation The

  18. Clinical Findings and Pro-Inflammatory Cytokines in Dengue Patients in Western India: A Facility-Based Study

    PubMed Central

    Priyadarshini, D.; Gadia, Rajesh R.; Tripathy, Anuradha; Gurukumar, K. R.; Bhagat, Asha; Patwardhan, Sampada; Mokashi, Nitin; Vaidya, Dhananjay; Shah, Paresh S.; Cecilia, D.

    2010-01-01

    Background Descriptions of dengue immunopathogenesis have largely relied on data from South-east Asia and America, while India is poorly represented. This study characterizes dengue cases from Pune, Western India, with respect to clinical profile and pro-inflammatory cytokines. Methodology/Principal Findings In 2005, 372 clinically suspected dengue cases were tested by MAC-ELISA and RT-PCR for dengue virus (DENV) aetiology. The clinical profile was recorded at the hospital. Circulating levels of IFN-γ, TNF-α, IL-6, and IL-8 were assessed by ELISA and secondary infections were defined by IgM to IgG ratio. Statistical analysis was carried out using the SPSS 11.0 version. Of the 372 individuals, 221 were confirmed to be dengue cases. Three serotypes, DENV-1, 2 and 3 were co-circulating and one case of dual infection was identified. Of 221 cases, 159 presented with Dengue fever (DF) and 62 with Dengue hemorrhagic fever (DHF) of which six had severe DHF and one died of shock. There was a strong association of rash, abdominal pain and conjunctival congestion with DHF. Levels of IFN-γ were higher in DF whereas IL-6 and IL-8 were higher in DHF cases (p<0.05). The mean levels of the three cytokines were higher in secondary compared to primary infections. Levels of IFN-γ and IL-8 were higher in early samples collected 2–5 days after onset than late samples collected 6–15 days after onset. IFN-γ showed significant decreasing time trend (p = 0.005) and IL-8 levels showed increasing trend towards significance in DHF cases (interaction p = 0.059). There was a significant association of IL-8 levels with thrombocytopenia and both IFN-γ and IL-8 were positively associated with alanine transaminase levels. Conclusions/Significance Rash, abdominal pain and conjunctival congestion could be prognostic symptoms for DHF. High levels of IL-6 and IL-8 were shown to associate with DHF. The time trend of IFN-γ and IL-8 levels had greater significance than absolute values

  19. Visual query tool for finding patient cohorts from a clinical data warehouse of the partners HealthCare system

    PubMed

    Murphy; Barnett; Chueh

    2000-01-01

    The patient base of the Partners HealthCare System in Boston exceeds 1.8 million. Many of these patients are desirable for participation in research studies. To facilitate their discovery, we developed a data warehouse to contain clinical characteristics of these patients. The data warehouse contains diagnosis and procedures from administrative databases. The patients are indexed across institutions and their demographics provided by an Enterprise Master Patient Indexing service. Characteristics of the diagnoses and procedures such as associated providers, dates of service, inpatient/outpatient status, and other visit-related characteristics are also fed from the administrative systems. The targeted users of this system are research clinician s interested in finding patient cohorts for research studies. Their data requirements were analyzed and have been reported elsewhere. We did not expect the clinicians to become expert users of the system. Tools for querying healthcare data have traditionally been text based, although graphical interfaces have been pursued. In order to support the simple drag and drop visual model, as well as the identification and distribution of the patient data, a three-tier software architecture was developed. The user interface was developed in Visual Basic and distributed as an ActiveX object embedded in an HTML page. The middle layer was developed in Java and Microsoft COM. The queries are represented throughout their lifetime as XML objects, and the Microsoft SQL7 database is queried and managed in standard SQL. PMID:11080028

  20. Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation.

    PubMed

    Evan, Andrew P; Worcester, Elaine M; Williams, James C; Sommer, Andre J; Lingeman, James E; Phillips, Carrie L; Coe, Fredric L

    2015-05-01

    Medullary sponge kidney (MSK) is associated with recurrent stone formation, but the clinical phenotype is unclear because patients with other disorders may be incorrectly labeled MSK. We studied 12 patients with histologic findings pathognomonic of MSK. All patients had an endoscopically recognizable pattern of papillary malformation, which may be segmental or diffuse. Affected papillae are enlarged and billowy, due to markedly enlarged inner medullary collecting ducts (IMCD), which contain small, mobile ductal stones. Patients had frequent dilation of Bellini ducts, with occasional mineral plugs. Stones may form over white (Randall's) plaque, but most renal pelvic stones are not attached, and have a similar morphology as ductal stones, which are a mixture of calcium oxalate and apatite. Patients had no abnormalities of urinary acidification or acid excretion; the most frequent metabolic abnormality was idiopathic hypercalciuria. Although both Runx2 and Osterix are expressed in papillae of MSK patients, no mineral deposition was seen at the sites of gene expression, arguing against a role of these genes in this process. Similar studies in idiopathic calcium stone formers showed no expression of these genes at sites of Randall's plaque. The most likely mechanism for stone formation in MSK appears to be crystallization due to urinary stasis in dilated IMCD with subsequent passage of ductal stones into the renal pelvis where they may serve as nuclei for stone formation. PMID:25615853

  1. Juvenile idiopathic arthritis and rheumatoid arthritis: bacterial diversity in temporomandibular joint synovial fluid in comparison with immunological and clinical findings.

    PubMed

    Olsen-Bergem, H; Kristoffersen, A K; Bjørnland, T; Reseland, J E; Aas, J A

    2016-03-01

    Temporomandibular joint (TMJ) involvement in juvenile idiopathic arthritis (JIA) occurs in up to 80% of affected children. The purpose of this study was to investigate the presence of bacterial DNA in synovial fluid, and to compare this with clinical and immunological findings in children with JIA, adults with persistent JIA, and adults with rheumatoid arthritis, in order to detect whether bacteria contribute to inflammation in TMJ arthritis. Synovial fluid and skin swab samples were collected from 30 patients (54 TMJs). Bacterial detection was performed using 16S rRNA pyrosequencing. Bacterial DNA was detected in 31 TMJs (57%) in 19 patients (63%). A positive statistically significant correlation was registered between bacterial DNA detected in TMJ synovial fluid and the following factors: total protein concentration in synovial fluid, interleukin 1β, tumour necrosis factor alpha, adrenocorticotropic hormone, and adiponectin, as well as the duration of the general medical disease. Fourteen different bacterial species were detected in synovial fluid. Bacterial DNA in TMJ synovial fluid without contamination was detected in more than 50% of the patients. Studies are needed to evaluate the consequences of this bacterial DNA in synovial fluid with regard to TMJ arthritis. PMID:26554824

  2. Phimosis in male dromedary camels: Clinical findings and changes in the hemogram, nitric oxide metabolites, and testosterone concentrations.

    PubMed

    Ali, Ahmed; Derar, Derar; Al-Sobyil, Fahd A; Zeitoun, Moustafa M; Hassanein, Khaled M A; Al-Howas, Abdella

    2016-06-01

    The objectives of this study were to elucidate the clinical findings in male dromedary camels with phimosis (PHI, n = 43) and to investigate the association of this syndrome with the hemogram, nitric oxide metabolites (NOMs), and testosterone concentrations. History and signalment were obtained, and a breeding soundness examination was performed. The penis was exteriorized after administration of a pudendal nerve block. Abnormal masses obtained from the prepuce and penis were prepared for histopathology. Blood samples for hemogram assessment were taken from the diseased animals and from 10 healthy control males. Total nitrates/nitrites were determined in sera using the Griess assay. Testosterone was estimated in sera using ELISA. Phimosis associated with detectable pathologic lesions, mainly including ulcerative posthitis and lacerated glans penis, was present in 34 (79.1%) of the 43 cases (PHI-P), whereas the remaining nine (20.9%) of the 43 cases had no noticeable lesions (PHI-N). The PHI-P group showed higher leukocyte counts (P = 0.001), especially neutrophils (P = 0.0001), and greater NOM concentrations (P = 0.002) than the PHI-N and control groups. However, testosterone concentrations did not differ among groups. In conclusion, PHI in the male dromedary camels was mainly associated with ulcerative posthitis and laceration of the glans penis. The presence of pathologic lesions in cases with PHI was associated with leukocytosis, neutrophilia, and high NOM concentrations. PMID:26879996

  3. 'Do your best for me': The difficulties of finding a clinically effective endpoint in smoking cessation consultations in primary care.

    PubMed

    Pilnick, Alison; Coleman, Tim

    2010-01-01

    In recent years in the UK there has been a shift towards doctors practising preventative medicine. Research suggests, however, that doctors are more comfortable in their traditional role, and may be reluctant to engage in discussion of lifestyle issues with patients. In this article, we use data from GPs' consultations about smoking, recorded prior to the availability of Nicotine Replacement Therapy on NHS prescription, to demonstrate how they attempt to negotiate behaviour change. Using a discursive analytic approach, and drawing particularly on some of the conversation analytic literature on advice giving, we suggest that there are two kinds of difficulties for doctors to overcome: an ambiguity about the interactional endpoint of a discussion about smoking; and the inability to offer 'expert' medical help. As a result, doctors struggle with following through their advice to stop in terms of talking about how to do it. We suggest that the efficacy of nicotine addiction treatments may be due not only to their clinical effects, but also because their prescription legitimizes the difficulty in stopping reported by most smokers as an appropriate problem for medical treatment. We discuss the implications of these findings for the management of smoking and other lifestyle issues within primary care consultations. PMID:20051430

  4. Overview of Classical Swine Fever (Hog Cholera, Classical Swine fever)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Classical swine fever is a contagious often fatal disease of pigs clinically characterized by high body temperature, lethargy, yellowish diarrhea, vomits and purple skin discoloration of ears, lower abdomen and legs. It was first described in the early 19th century in the USA. Later, a condition i...

  5. Understanding the Challenges of Integrating Scientists and Clinical Teachers in Psychiatry Education: Findings from an Innovative Faculty Development Program

    ERIC Educational Resources Information Center

    Martimianakis, Maria Athina; Hodges, Brian D.; Wasylenki, Donald

    2009-01-01

    Objective: Medical schools and departments of psychiatry around the world face challenges in integrating science with clinical teaching. This project was designed to identify attitudes toward the integration of science in clinical teaching and address barriers to collaboration between scientists and clinical teachers. Methods: The authors explored…

  6. The Epidemiology, Virology and Clinical Findings of Dengue Virus Infections in a Cohort of Indonesian Adults in Western Java

    PubMed Central

    Kosasih, Herman; Alisjahbana, Bachti; Nurhayati; de Mast, Quirijn; Rudiman, Irani F.; Widjaja, Susana; Antonjaya, Ungke; Novriani, Harli; Susanto, Nugroho H.; Jusuf, Hadi; van der Ven, Andre; Beckett, Charmagne G.; Blair, Patrick J.; Burgess, Timothy H.; Williams, Maya; Porter, Kevin R.

    2016-01-01

    Background Dengue has emerged as one of the most important infectious diseases in the last five decades. Evidence indicates the expansion of dengue virus endemic areas and consequently the exponential increase of dengue virus infections across the subtropics. The clinical manifestations of dengue virus infection include sudden fever, rash, headache, myalgia and in more serious cases, spontaneous bleeding. These manifestations occur in children as well as in adults. Defining the epidemiology of dengue in a given area is critical to understanding the disease and devising effective public health strategies. Methodology/Principal Findings Here, we report the results from a prospective cohort study of 4380 adults in West Java, Indonesia, from 2000–2004 and 2006–2009. A total of 2167 febrile episodes were documented and dengue virus infections were confirmed by RT-PCR or serology in 268 cases (12.4%). The proportion ranged from 7.6 to 41.8% each year. The overall incidence rate of symptomatic dengue virus infections was 17.3 cases/1,000 person years and between September 2006 and April 2008 asymptomatic infections were 2.6 times more frequent than symptomatic infections. According to the 1997 WHO classification guidelines, there were 210 dengue fever cases, 53 dengue hemorrhagic fever cases (including one dengue shock syndrome case) and five unclassified cases. Evidence for sequential dengue virus infections was seen in six subjects. All four dengue virus serotypes circulated most years. Inapparent dengue virus infections were predominantly associated with DENV-4 infections. Conclusions/Significance Dengue virus was responsible for a significant percentage of febrile illnesses in an adult population in West Java, Indonesia, and this percentage varied from year to year. The observed incidence rate during the study period was 43 times higher than the reported national or provincial rates during the same time period. A wide range of clinical severity was observed with

  7. From Dish to Bedside: Lessons Learned While Translating Findings from a Stem Cell Model of Disease to a Clinical Trial.

    PubMed

    McNeish, John; Gardner, Jason P; Wainger, Brian J; Woolf, Clifford J; Eggan, Kevin

    2015-07-01

    While iPSCs have created unprecedented opportunities for drug discovery, there remains uncertainty concerning the path to the clinic for candidate therapeutics discovered with their use. Here we share lessons that we learned, and believe are generalizable to similar efforts, while taking a discovery made using iPSCs into a clinical trial. PMID:26140603

  8. Incidental Intracranial Findings and Their Clinical Impact; The HUNT MRI Study in a General Population of 1006 Participants between 50-66 Years

    PubMed Central

    Håberg, Asta Kristine; Hammer, Tommy Arild; Kvistad, Kjell Arne; Rydland, Jana; Müller, Tomm B.; Eikenes, Live; Gårseth, Mari; Stovner, Lars Jacob

    2016-01-01

    Objectives Evaluate types and prevalence of all, incidental, and clinically relevant incidental intracranial findings, i.e. those referred to primary physician or clinical specialist, in a cohort between 50 and 66 years from the Nord-Trøndelag Health (HUNT) study. Types of follow-up, outcome of repeated neuroimaging and neurosurgical treatment were assessed. Material and Methods 1006 participants (530 women) underwent MRI of the head at 1.5T consisting of T1 weighted sagittal IR-FSPGR volume, axial T2 weighted, gradient echo T2* weighted and FLAIR sequences plus time of flight cerebral angiography covering the circle of Willis. The nature of a finding and if it was incidental were determined from previous radiological examinations, patient records, phone interview, and/or additional neuroimaging. Handling and outcome of the clinically relevant incidental findings were prospectively recorded. True and false positives were estimated from the repeated neuroimaging. Results Prevalence of any intracranial finding was 32.7%. Incidental intracranial findings were present in 27.1% and clinically relevant findings in 15.1% of the participants in the HUNT MRI cohort. 185 individuals (18.4%) were contacted by phone about their findings. 40 participants (6.2%) underwent ≥ 1 additional neuroimaging session to establish etiology. Most false positives were linked to an initial diagnosis of suspected glioma, and overall positive predictive value of initial MRI was 0.90 across different diagnoses. 90.8% of the clinically relevant incidental findings were developmental and acquired cerebrovascular pathologies, the remaining 9.2% were intracranial tumors, of which extra-axial tumors predominated. In total, 3.9% of the participants were referred to a clinical specialist, and 11.7% to their primary physician. 1.4% underwent neurosurgery/radiotherapy, and 1 (0.1%) experienced a procedure related postoperative deficit. Conclusions In a general population between 50 and 66 years most

  9. Clinical presentation, auscultation recordings, ultrasonographic findings and treatment response of 12 adult cattle with chronic suppurative pneumonia: case study

    PubMed Central

    2013-01-01

    Auscultation is considered the critical component of the veterinary clinical examination for the diagnosis of bovine respiratory disease but the accuracy with which adventitious sounds reflect underlying lung pathology remains largely unproven. Modern portable ultrasound machines provide the veterinary practitioner with an inexpensive, non-invasive tool with which to examine the pleural surfaces and superficial lung parenchyma. Simultaneous recording of sounds overlying normal lung and defined pathology allows critical assessment of auscultated sounds in the same animal removing confounding factors such as respiratory rate and thickness of the chest wall (body condition). Twelve cows, referred to the University of Edinburgh Veterinary School, were diagnosed with chronic suppurative pneumonia and enrolled into this prospective study to record and monitor lung sounds, ultrasonographic findings, and response to a standardised antibiotic treatment regimen. Most cows (8/12) had a normal rectal temperature on presentation but all cows had received antibiotic therapy at some time in the previous two weeks and six animals were receiving antibiotic treatment upon admission. All cattle were tachypnoeic (>40 breaths per minute) with frequent and productive coughing, halitosis, and a purulent nasal discharge most noticeable when the head was lowered. Ultrasonographic examination of the chest readily identified pathological changes consistent with severe lung pathology subsequently confirmed as chronic suppurative pneumonia in four cows at necropsy; eight cows recovered well after antibiotic treatment and were discharged two to six weeks after admission. It proved difficult to differentiate increased audibility of normal lung sounds due to tachypnoea from wheezes; coarse crackles were not commonly heard. In general, sounds were reduced in volume over consolidated lung relative to normal lung tissue situated dorsally. Rumen contraction sounds were commonly transmitted over areas

  10. 25-Hydroxyvitamin D levels in acute monosymptomatic optic neuritis: relation to clinical severity, paraclinical findings and risk of multiple sclerosis.

    PubMed

    Pihl-Jensen, Gorm; Frederiksen, Jette Lautrup

    2015-07-01

    Optic neuritis (ON) is a common first symptom of MS and only few studies have thus far investigated vitamin D at this early stage of MS. The objectives of the study were to examine total 25-hydroxyvitamin D levels (25HVITDL) in patients in acute (A) ON and to determine whether 25HVITD levels in AON (1) predict risk of RRMS and (2) are associated with visual tests of ON severity. A cross-sectional study was conducted of mean 25HVITDL differences between ON (n = 164) and MS (n = 948) patients and of prevalence of 25HVITDL deficiency (<50 nmol/L) in ON and MS (two-sample t test, χ (2) test). Associations between 25HVITDL and (1) clinical ON severity, (2) paraclinical findings suggestive of MS [logistic regression (LRA), Spearman correlation] and (3) hazard of MS development [Cox (C) RA] in ON patients were assessed. 25HVITDL were deseasonalized before analysis. The mean levels were 47.6 (ON) and 63.9 (MS) nmol/L (p < 0.0001), and a significantly higher prevalence of 25HVITD deficiency in ON (56 %; 35 %) (p < 0.0001), most pronounced in females, was shown. Associations were found between 25HVITDL and both CSF leukocyte count (ρ = -0.177, p = 0.028) and IgG index elevation (OR 0.980, p = 0.031). Forty-one ON patients developed MS during the study. Multivariate CRA showed no effect on hazard of MS (HR: 0.991, p 0.284). No association was found between 25HVITDL and visual tests (acuity, contrast vision) or OCT RNFL or GCL thickness. The study indicates a high prevalence of 25HVITD deficiency in AON. 25HVITDL was significantly associated with CSF leukocyte count, but not ON severity. The study indicates a possible role of vitamin D in the early stages of MS, but does not support the use of 25HVITDL as a predictor of MS development in acute ON. PMID:25929657

  11. Structure of classical affine and classical affine fractional W-algebras

    SciTech Connect

    Suh, Uhi Rinn

    2015-01-15

    We introduce a classical BRST complex (See Definition 3.2.) and show that one can construct a classical affine W-algebra via the complex. This definition clarifies that classical affine W-algebras can be considered as quasi-classical limits of quantum affine W-algebras. We also give a definition of a classical affine fractional W-algebra as a Poisson vertex algebra. As in the classical affine case, a classical affine fractional W-algebra has two compatible λ-brackets and is isomorphic to an algebra of differential polynomials as a differential algebra. When a classical affine fractional W-algebra is associated to a minimal nilpotent, we describe explicit forms of free generators and compute λ-brackets between them. Provided some assumptions on a classical affine fractional W-algebra, we find an infinite sequence of integrable systems related to the algebra, using the generalized Drinfel’d and Sokolov reduction.

  12. Classicality of a quantum oscillator

    NASA Astrophysics Data System (ADS)

    Ahmadzadegan, Aida; Mann, Robert B.; Terno, Daniel R.

    2016-03-01

    Gaussian quantum systems exhibit many explicitly quantum effects but can be simulated classically. By using both the Hilbert space (Koopman) and the phase-space (Moyal) formalisms we investigate how robust this classicality is. We find failures of consistency of the dynamics of hybrid classical-quantum systems from both perspectives. By demanding that no unobservable operators couple to the quantum sector in the Koopmanian formalism, we show that the classical equations of motion act on their quantum counterparts without experiencing any back reaction, resulting in nonconservation of energy in the quantum system. By using the phase-space formalism we study the short-time evolution of the moment equations of a hybrid classical-Gaussian quantum system and observe violations of the Heisenberg uncertainty relation in the quantum sector for a broad range of initial conditions. We estimate the timescale for these violations, which is generically rather short. This inconsistency indicates that while many explicitly quantum effects can be represented classically, quantum aspects of the system cannot be fully masked. We comment on the implications of our results for quantum gravity.

  13. Cocaine Use among the College Age Group: Biological and Psychological Effects--Clinical and Laboratory Research Findings.

    ERIC Educational Resources Information Center

    Nicholi, Armand M., Jr.

    1984-01-01

    Knowledge about cocaine's effect on the human mind and body is limited and not clearly documented. This article discusses various biological and psychological effects of the drug based on clinical and laboratory studies of man. (Author/DF)

  14. Multimodality imaging in cranial blastomycosis, a great mimicker: Case-based illustration with review of clinical and imaging findings

    PubMed Central

    Kochar, Puneet S; Lath, Chinar O; Klein, Andrew P; Ulmer, John L

    2016-01-01

    We describe the clinical, laboratory, and imaging data of three patients who are proven cases of blastomycosis with cranial involvement. In this review, we discuss the imaging features of cranial blastomycosis with relevant clinical case examples including computed tomography (CT), magnetic resonance imaging (MRI), and advanced MR imaging techniques like magnetic resonance spectroscopy (MRS) and MR perfusion. Literature is reviewed for modern-day diagnosis and treatment of this fatal intracranial infection, if not diagnosed promptly and managed effectively. PMID:27081235

  15. Instantaneous fields in classical electrodynamics

    NASA Astrophysics Data System (ADS)

    Heras, J. A.

    2005-01-01

    In this paper we express the retarded fields of Maxwell's theory in terms of the instantaneous fields of a Galilei-invariant electromagnetic and we find the vector function χL whose spatial and temporal derivatives transform the Euclidean fields into the retarded ones. We conclude that the instantaneous fields can formally be introduced as unphysical objects into classical electrodynamics which can be used to find the physical retarded fields.

  16. Clinical Ethics in Gabon: The Spectrum of Clinical Ethical Issues Based on Findings from In-Depth Interviews at Three Public Hospitals

    PubMed Central

    Sippel, Daniel; Marckmann, Georg; Ndzie Atangana, Etienne; Strech, Daniel

    2015-01-01

    Introduction Unlike issues in biomedical research ethics, ethical challenges arising in daily clinical care in Sub-Saharan African countries have not yet been studied in a systematic manner. However this has to be seen as a distinct entity as we argue in this paper. Our aim was to give an overview of the spectrum of clinical ethical issues and to understand what influences clinical ethics in the Sub-Saharan country of Gabon. Materials and Methods In-depth interviews with 18 health care professionals were conducted at three hospital sites in Gabon. Interview transcripts were analyzed using a grounded theory approach (open and axial coding), giving a qualitative spectrum of categories for clinical ethical issues. Validity was checked at a meeting with study participants and other health care experts in Gabon after analysis of the data. Results Twelve main categories (with 28 further-specified subcategories) for clinical ethical issues were identified and grouped under three core categories: A) micro level: “confidentiality and information”, “interpersonal, relational and behavioral issues”, “psychological strain of individuals”, and “scarce resources”; B) meso level: “structural issues of medical institutions”, “issues with private clinics”, “challenges connected to the family”, and “issues of education, training and competence”; and C) macro level: “influence of society, culture, religion and superstition”, “applicability of western medicine”, “structural issues on the political level”, and “legal issues”. Discussion Interviewees reported a broad spectrum of clinical ethical issues that go beyond challenges related to scarce financial and human resources. Specific socio-cultural, historical and educational backgrounds also played an important role. In fact these influences are central to an understanding of clinical ethics in the studied local context. Further research in the region is necessary to put our study into

  17. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

    PubMed

    Tüysüz, Beyhan; Yılmaz, Saliha; Kasapçopur, Özgür; Erener-Ercan, Tuğba; Ceyhun, Emre; Bilguvar, Kaya; Günel, Murat

    2014-11-01

    Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1) is characterized by delayed closure of the fontanels, digital clubbing, arthropathy and periostosis. Homozygous mutations in hydroxyprostaglandin dehydrogenase (HPGD) gene are the underlying pathology of PHOAR1. The aim of this study was to analyze the HPGD gene and the changing clinical and radiological findings with advancing age of two siblings with the diagnosis of PHOAR1. A novel 2-bp homozygous deletion was found in exon 3 (c.310-311delCT) of HPGD gene in the patients. Clinical and radiological findings of the siblings were evaluated between 4 months and 8 years and 6 months of age. The painful swelling and sweating of the hands and feet, cranial ossification defect and expanded diaphyses were evident at infantile period and gradually showed improvement until 4 years of age. After the age of 4 years, digital clubbing and swelling of knees persisted, palmoplantar hyperkeratosis developed and acro-osteolysis became evident on hand radiographs. In conclusion, we suggest that the clinical findings of the patients with PHOAR1 should be classified in two periods as early and late childhood. We also observed that there was intrafamilial variability of clinical findings. PMID:24816859

  18. Angiographic outcome of endovascular stroke therapy correlated with MR findings, infarct growth, and clinical outcome in the DEFUSE 2 trial

    PubMed Central

    Marks, Michael P.; Lansberg, Maarten G.; Mlynash, Michael; Kemp, Stephanie; McTaggart, Ryan A.; Zaharchuk, Greg; Bammer, Roland; Albers, Gregory W.

    2015-01-01

    Background DEFUSE 2 demonstrated that patients with magnetic resonance imaging mismatch had a favorable clinical response to tissue reperfusion assessed by magnetic resonance imaging. This study reports the endovascular results and correlates angiographic reperfusion with clinical and imaging outcomes. Methods Prospectively enrolled ischemic stroke patients underwent baseline magnetic resonance imaging and started endovascular therapy within 12 h of onset. Patients were classified as either target mismatch or no target mismatch using magnetic resonance imaging. The pre- and postprocedure angiogram was evaluated to determine thrombolysis in cerebral infarction scores. Favorable clinical response was determined at day 30, and good functional outcome was defined as a modified Rankin Scale 0–2 at day 90. Results One-hundred patients had attempted endovascular treatment. At procedure end, 23% were thrombolysis in cerebral infarction 0–1, 31% thrombolysis in cerebral infarction 2A, 28% thrombolysis in cerebral infarction 2B, and 18% thrombolysis in cerebral infarction 3. More favorable thrombolysis in cerebral infarction-reperfusion scores were associated with greater magnetic resonance imaging reperfusion (P < 0·001). thrombolysis in cerebral infarction scores correlated with 30-day favorable clinical response (P = 0·041) and 90-day modified Rankin Scale 0–2 (P = 0·008). These correlations were significant for target mismatch patients at 30 days (P = 0·034) and 90 days (P = 0·003). Infarct growth was strongly associated with poorer thrombolysis in cerebral infarction scores in target mismatch patients (P < 0·001). Patients with thrombolysis in cerebral infarctionnfarction 2A reperfusion had less magnetic resonance imaging reperfusion (P = 0·004) and poorer clinical outcome at 90 days (P = 0·01) compared with thrombolysis in cerebral infarction 2B-3 patients. Conclusion Thrombolysis in cerebral infarction reperfusion following endovascular therapy for

  19. Evaluating the clinical appropriateness of nurses' prescribing practice: method development and findings from an expert panel analysis

    PubMed Central

    Latter, Sue; Maben, Jill; Myall, Michelle; Young, Amanda

    2007-01-01

    Background The number of nurses independently prescribing medicines in England is rising steadily. There had been no attempt systematically to evaluate the clinical appropriateness of nurses' prescribing decisions. Aims (i) To establish a method of assessing the clinical appropriateness of nurses' prescribing decisions; (ii) to evaluate the prescribing decisions of a sample of nurses, using this method. Method A modified version of the Medication Appropriateness Index (MAI) was developed, piloted and subsequently used by seven medical prescribing experts to rate transcripts of 12 nurse prescriber consultations selected from a larger database of 118 audio‐recorded consultations collected as part of a national evaluation. Experts were also able to give written qualitative comments on each of the MAI dimensions applied to each of the consultations. Analysis Experts' ratings were analysed using descriptive statistics. Qualitative comments were subjected to a process of content analysis to identify themes within and across both MAI items and consultations. Results Experts' application of the modified MAI to transcripts of nurse prescriber consultations demonstrated validity and feasibility as a method of assessing the clinical appropriateness of nurses' prescribing decisions. In the majority of assessments made by the expert panel, nurses' prescribing decisions were rated as clinically appropriate on all nine items in the MAI. Conclusion A valid and feasible method of assessing the clinical appropriateness of nurses' prescribing practice has been developed using a modified MAI and transcripts of audio‐recorded consultations sent to a panel of prescribing experts. Prescribing nurses in this study were generally considered to be making clinically appropriate prescribing decisions. This approach to measuring prescribing appropriateness could be used as part of quality assurance in routine practice, as a method of identifying continuing professional development needs

  20. The Classical Vacuum.

    ERIC Educational Resources Information Center

    Boyer, Timothy H.

    1985-01-01

    The classical vacuum of physics is not empty, but contains a distinctive pattern of electromagnetic fields. Discovery of the vacuum, thermal spectrum, classical electron theory, zero-point spectrum, and effects of acceleration are discussed. Connection between thermal radiation and the classical vacuum reveals unexpected unity in the laws of…

  1. The role of flow limitation as an important diagnostic tool and clinical finding in mild sleep-disordered breathing

    PubMed Central

    Arora, Nevin; Meskill, Gerard; Guilleminault, Christian

    2015-01-01

    Obstructive sleep apnea (OSA) is defined by quantifying apneas and hypopneas along with symptoms suggesting sleep disruption. Subtler forms of sleep-disordered breathing can be missed when this criteria is used. Newer technologies allow for non-invasive detection of flow limitation, however consensus classification is needed. Subjects with flow limitation demonstrate electroencephalogram changes and clinical symptoms indicating sleep fragmentation. Flow limitation may be increased in special populations and treatment with nasal continuous positive airway pressure (CPAP) has been shown to improve outcomes. Titrating CPAP to eliminate flow limitation may be associated with improved clinical outcomes compared to treating apneas and hypopneas. PMID:26779320

  2. Predictive power of individual factors and clinical learning experience on academic success: findings from a longitudinal study.

    PubMed

    Dante, Angelo; Fabris, Stefano; Palese, Alvisa

    2015-01-01

    Academic failure is the inability of a nursing student to graduate or to complete the nursing degree on time. This longitudinal cohort study, involving 2 Italian universities, documents the effects of selected individual variables and the quality of the clinical learning experience as perceived by students on academic success. Factors related to the clinical learning experience were the quality of the supervisory relationship, pedagogical atmosphere, and commitment of the ward related to the level of personalized nursing care delivered and clarity of nursing documentation. PMID:25643319

  3. Asperger syndrome in India: findings from a case-series with respect to clinical profile and comorbidity.

    PubMed

    Sreedaran, Priya; Ashok, M V

    2015-01-01

    Asperger syndrome (AS) is an autism spectrum disorder with a high rate of psychiatric comorbidity. We describe the clinical profile and psychiatric comorbidity in a series of affected individuals referred to an Indian general hospital psychiatry setting. Gilliam Asperger's disorder scale was used to evaluate the clinical characteristics while Mini-International Neuropsychiatric Interview (MINI)-KID and MINI-PLUS were used to assess psychiatric comorbidity. The profile of subjects with AS in our case-series appears similar to that published elsewhere with high rates of psychiatric comorbidity. Mental health professionals should evaluate for psychiatric comorbidity in individuals with autism spectrum disorders. PMID:25969609

  4. Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings

    PubMed Central

    McGuire, Amy L.; Knoppers, Bartha Maria; Zawati, Ma’n H.; Clayton, Ellen Wright

    2014-01-01

    Genomic researchers increasingly are faced with difficult decisions about whether, under what circumstances, and how to return research results and significant incidental findings to study participants. Many have argued that there is an ethical—maybe even a legal—obligation to disclose significant findings under some circumstances. At the international level, over the last decade there has begun to emerge a clear legal obligation to return significant findings discovered during the course of research. However, there is no explicit legal duty to disclose in the United States. This creates legal uncertainty that may lead to unmanaged variation in practice and poor quality care. This article discusses liability risks associated with the disclosure of significant research findings for investigators in the United States. PMID:24676095

  5. Posttraumatic Stress Disorder, Exposure to Combat, and Lower Plasma Cortisol among Vietnam Veterans: Findings and Clinical Implications.

    ERIC Educational Resources Information Center

    Boscarino, Joseph A.

    1996-01-01

    Clinical studies suggest individuals with posttraumatic stress disorder (PSD) experience neuroendocrine systems alterations, resulting in significantly lower plasma cortisol. To test this hypothesis, morning serum cortisol was compared among a national sample of Vietnam "theater" veterans (n=2,490) and a sample of Vietnam "era" veterans (n=1,972)…

  6. Consent for genetics studies among clinical trial participants: findings from Action for Health in Diabetes (Look AHEAD)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Increasingly, genetic specimens are collected to expand the value of clinical trials through study of genetic effects on disease incidence, progression or response to interventions. We describe the experience obtaining IRB-approved DNA consent forms across the 19 institutions in the Action for Healt...

  7. IgE deposition in normal skin of patients with rheumatoid arthritis in relation to clinical and laboratory findings.

    PubMed Central

    De Clerck, L S; Westedt, M L; Cats, A; Vermeer, B J; Weltevreden, E F; Bridts, C H; Stevens, W J

    1985-01-01

    Biopsy specimens from apparently normal skin of 28 patients with classical or definite rheumatoid arthritis (RA) were examined for the presence of IgE deposition by a direct immunofluorescence technique. IgE deposition was found in 12 patients (43%) and in none of the 10 controls. This deposition was mainly localised on mast cells, and in three patients perivascular IgE staining was also noted. The skin from nine of the 12 patients also showed deposition of IgM and complement C3 or C4 factor, or both. All 12 patients with skin IgE deposition had raised levels of IgM rheumatoid factor (RF) in the serum. Nine of these also had IgE RF. IgE-containing circulating immune complexes (IgE CIC), raised serum IgE levels, and extra-articular (EA) manifestations were present in respectively 10, nine, and eight skin IgE positive patients. It is suggested that IgE and IgE CIC may be involved in the pathogenesis of RA and its EA manifestations. Images PMID:3904645

  8. Frequency of abnormal findings detected by comprehensive clinical evaluation at 1 year after allogeneic hematopoietic cell transplantation.

    PubMed

    Lee, Stephanie J; Seaborn, Travis; Mao, Frances J; Massey, Susan C; Luu, Ngoc Q; Schubert, Mary A; Chien, Jason W; Carpenter, Paul A; Moravec, Carina; Martin, Paul J; Flowers, Mary E D

    2009-04-01

    Consensus guidelines recommend various screening examinations for survivors after allogeneic hematopoietic cell transplantation (HCT), but how often these examinations detect abnormal findings is unknown. We reviewed the medical records of 118 patients who received comprehensive, standardized evaluations at 1 year after allogeneic HCT at Fred Hutchinson Cancer Research Center/Seattle Cancer Care Alliance. Abnormal findings were common, including moderate to severe pulmonary dysfunction (16%), fasting hyperlipidemia (56%), osteopenia (52%), osteoporosis (6%), and active chronic graft-versus-host disease (cGVHD) (64%). Recurrent malignancy (4%) and cGVHD (29%) were detected in previously unsuspected cases. Only 3% of patients had no abnormal findings. We conclude that comprehensive evaluation at 1 year after allogeneic HCT detects a high prevalence of medical problems. Longer follow-up is needed to determine whether early detection and intervention affect later morbidity and mortality. PMID:19285628

  9. ISI values and interhemispheric differences in patients with ischemic cerebrovascular disease; correlations with clinical and angiographic findings

    SciTech Connect

    Mosmans, P.C.; Veering, M.M.; Jonkman, E.J.

    1986-01-01

    Xenon 133 inhalation CBF studies of one hundred patients with ischemic cerebrovascular disease in the territory of the carotid artery were compared in an attempt to gain more insight into the collateral capacity, especially in those with a stenosis or occlusion of one of the major arteries. Asymmetry of the ISI values for the two hemispheres was expressed as a ratio. High ratios (greater ISI asymmetries) were found for patients with an occlusion of the internal carotid or middle cerebral artery, especially--but not exclusively--those with the more severe clinical symptoms. It also appeared that even when the patient is in a good clinical condition, an elevated ratio reflects insufficiency of the collateral supply to the affected side. The ISI values for individual patients seem to be less useful, partly due to the variable age dependency of this flow parameter.

  10. Clinical and laboratorial findings in pregnant ewes and their progeny infected with Border disease virus (BDV-4 genotype).

    PubMed

    García-Pérez, A L; Minguijón, E; Estévez, L; Barandika, J F; Aduriz, G; Juste, R A; Hurtado, A

    2009-04-01

    To evaluate the pathogenicity of local isolates of ovine pestiviruses (BDV-4 genotype), 13 virus- and antibody-negative, artificially inseminated pregnant ewes were challenged on days 108 (5 ewes), 76 (5 ewes) and 55 of pregnancy (3 ewes) with 2 ml of ovine pestivirus containing 10(6) TCID(50). Viraemia was detected by RT-PCR from 2 to 15 days pi in most ewes. No abortion due to the infection was observed but the number of stillbirths was high (32%), and bodyweight at lambing was significantly reduced compared to the experimental flock of origin used as control. Clinical symptoms in live lambs consisted on tremors, gait anomalies and inability to stand unaided. Skeletal abnormalities (brachygnathia, prognathia, arthrogryposis) were present in 44% of the lambs. Only 20% of the lambs were clinically normal. RT-PCR was a very sensitive technique compared to antigen ELISA in detecting viral presence in experimentally infected ewes and their progeny. PMID:18755485

  11. Case-control approach application for finding a relationship between candidate genes and clinical mastitis in Holstein dairy cattle.

    PubMed

    Bagheri, Masoumeh; Moradi-Sharhrbabak, M; Miraie-Ashtiani, R; Safdari-Shahroudi, M; Abdollahi-Arpanahi, R

    2016-02-01

    Mastitis is a major source of economic loss in dairy herds. The objective of this research was to evaluate the association between genotypes within SLC11A1 and CXCR1 candidate genes and clinical mastitis in Holstein dairy cattle using the selective genotyping method. The data set contained clinical mastitis records of 3,823 Holstein cows from two Holstein dairy herds located in two different regions in Iran. Data included the number of cases of clinical mastitis per lactation. Selective genotyping was based on extreme values for clinical mastitis residuals (CMR) from mixed model analyses. Two extreme groups consisting of 135 cows were formed (as cases and controls), and genotyped for the two candidate genes, namely, SLC11A1 and CXCR1, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), respectively. Associations between single nucleotide polymorphism (SNP) genotypes with CMR and breeding values for milk and protein yield were carried out by applying logistic regression analyses, i.e. estimating the probability of the heterogeneous genotype in the dependency of values for CMR and breeding values (BVs). The sequencing results revealed a novel mutation in 1139 bp of exon 11 of the SLC11A1 gene and this SNP had a significant association with CMR (P < 0.05). PCR-RFLP analysis leads to three banding patterns for CXCR1c.735C>G and these genotypes had significant relationships with CMR. Overall, the results showed that SLC11A1 and CXCR1 are valuable candidate genes for the improvement of mastitis resistance as well as production traits in dairy cattle populations. PMID:26126595

  12. Determinants of Patient Satisfaction in Internal Medicine Resident Continuity Clinics: Findings of the Educational Innovations Project Ambulatory Collaborative

    PubMed Central

    Francis, Maureen D.; Warm, Eric; Julian, Katherine A.; Rosenblum, Michael; Thomas, Kris; Drake, Sean; Gwisdalla, Keri Lyn; Langan, Michael; Nabors, Christopher; Pereira, Anne; Smith, Amy; Sweet, David; Varney, Andrew; Francis, Mark L.

    2014-01-01

    Background Many internal medicine programs have reorganized their resident continuity clinics to improve the ambulatory care experience for residents. The effect of this redesign on patient satisfaction is largely unknown. Methods Our multi-institutional, cross-sectional study included 569 internal medicine residents from 11 programs participating in the Educational Innovations Project Ambulatory Collaborative. An 11-item patient satisfaction survey from the Consumer Assessment of Healthcare Providers and Systems was used to assess patient satisfaction, comparing patient satisfaction in traditional models of weekly continuity clinic with 2 new clinic models. We then examined the relationship between patient satisfaction and other practice variables. Results Patient satisfaction responses related to resident listening and communication skills, knowledge of medical history, perception of adequate visit time, overall rating, and willingness to refer to family and friends were significantly better in the traditional and block continuity models than the combination model. Higher ambulatory workload was associated with reduced patient perception of respect shown by the physician. The percentage of diabetic patients with glycated hemoglobin < 8% was positively correlated with number of visits, knowledge of medical history, perception of respect, and higher scores for recommending the physician to others. The percentage of diabetic patients with low density lipoprotein < 100 mg/dL was positively correlated with the physician showing respect. Conclusions Patient satisfaction was similar in programs using block design and traditional models for continuity clinic, and both outperformed the combination model programs. There was a delicate balance between workload and patient perception of the physician showing respect. Care outcome measures for diabetic patients were associated with aspects of patient satisfaction. PMID:26279771

  13. Bias in dissemination of clinical research findings: structured OPEN framework of what, who and why, based on literature review and expert consensus

    PubMed Central

    Bassler, Dirk; Mueller, Katharina F; Briel, Matthias; Kleijnen, Jos; Marusic, Ana; Antes, Gerd; von Elm, Erik; Altman, Douglas G; Meerpohl, Joerg J

    2016-01-01

    Objective The aim of this study is to review highly cited articles that focus on non-publication of studies, and to develop a consistent and comprehensive approach to defining (non-) dissemination of research findings. Setting We performed a scoping review of definitions of the term ‘publication bias’ in highly cited publications. Participants Ideas and experiences of a core group of authors were collected in a draft document, which was complemented by the findings from our literature search. Interventions The draft document including findings from the literature search was circulated to an international group of experts and revised until no additional ideas emerged and consensus was reached. Primary outcomes We propose a new approach to the comprehensive conceptualisation of (non-) dissemination of research. Secondary outcomes Our ‘What, Who and Why?’ approach includes issues that need to be considered when disseminating research findings (What?), the different players who should assume responsibility during the various stages of conducting a clinical trial and disseminating clinical trial documents (Who?), and motivations that might lead the various players to disseminate findings selectively, thereby introducing bias in the dissemination process (Why?). Conclusions Our comprehensive framework of (non-) dissemination of research findings, based on the results of a scoping literature search and expert consensus will facilitate the development of future policies and guidelines regarding the multifaceted issue of selective publication, historically referred to as ‘publication bias’. PMID:26801469

  14. Clinical course of patients with incidental finding of 20q- in the bone marrow without a morphologic evidence of myeloid neoplasm.

    PubMed

    Jawad, Majd D; Shi, Min; Oliveira, Jennifer L; Hoyer, James D; Christopher Hook, C; Go, Ronald S

    2016-06-01

    Deletion of the long arm of chromosome 20 (20q-) is a frequent finding in bone marrow karyotypes, mainly associated with myeloid neoplasms (MNs). Its clinical significance in the setting of normal bone marrow morphology is unclear. We described the clinical characteristics, cytogenetic findings, and outcome of 102 such patients seen at our institution from 2000-2014. Their median age was 66 years. The indication for bone marrow biopsy was either unexplained cytopenias (48%) or hematologic cancer staging/reevaluation (52%). In 88 (86%) patients, 20q- was an isolated finding. Thirty-nine (38%) patients previously received chemotherapy and 88 (86%) had cytopenias at the time of 20q- finding. After a median of 35 months, 12 (13%) patients developed MNs: 10 myelodysplastic syndromes, one acute myeloid leukemia and one myeloproliferative neoplasm. None of 14 patients with normal blood counts, but 7 of 35 (20%) with mild cytopenias, and 5 of 53 (9%) with moderate/severe cytopenias developed MNs. We did not find an association between the number of metaphases with 20q- and the development of MN. The incidental finding of 20q- in the bone marrow generally does not portend an early stage MN. Particularly, those without cytopenias at the time of diagnosis may have a good prognosis. Am. J. Hematol. 91:556-559, 2016. © 2016 Wiley Periodicals, Inc. PMID:26928533

  15. Lumbar puncture-related cerebrospinal fluid leakage on magnetic resonance myelography: is it a clinically significant finding?

    PubMed Central

    2013-01-01

    Background Post-dural puncture headache (PDPH) due to excessive cerebrospinal fluid (CSF) leakage is a well-known complication of lumbar puncture. Although various factors, especially the type of spinal needle, have been demonstrated to be associated with PDPH, the clinical implications of CSF leakage detected on magnetic resonance myelography (MRM) images remain unclear. The objective of this case–control study was to evaluate the association between radiologically visualized CSF leakage and PDPH. Methods Clinical data including patients’ age and gender, types of spinal needle, duration of bed rest, interval between lumbar puncture procedures and MRM studies, and incidence of PDPH were compared between patients who were radiologically-positive and -negative for CSF leakage. Results Of the 22 patients with definite CSF leakage on MRM images, most were asymptomatic (86%, 19/22). The remaining three patients, who were suffering from PDPH, only complained of headaches and were treated conservatively. In a review of patients’ clinical data, there were no significant differences in any parameter including the incidence of PDPH between the 22 patients who were radiologically-positive for CSF leakage and the 31 radiologically-negative patients. Conclusion The significance of radiologically visualized CSF leakage should not be overestimated, as most such incidents are not associated with PDPH and do not require any treatment. PMID:24160550

  16. Infections on the rise: Raoultella spp., clinical and microbiological findings from a retrospective study, 2010-2014.

    PubMed

    Boattini, Matteo; Almeida, André; Cardoso, Catarina; Cruz, Cristiano Silva; Machado, Catarina; Vesza, Zsófia; Tosatto, Valentina; Maia, Dionísio; Cardoso, Sara; Pinto, Margarida; Moura, Rita Barata; Garcia, Teresa; Guerreiro, António Sousa

    2016-01-01

    We performed a retrospective analysis of clinical and laboratory data over 5 years in a tertiary centre to assess clinical and microbiological characteristics of patients with Raoultella spp. infection. Raoultella spp. were deemed responsible for clinical infections in 57 patients (R. planticola, n = 32 and R. ornithinolytica, n = 25). The most prevalent diagnoses for R. planticola were cystitis (50%; n = 16) followed by bacteraemia and pneumonia (9.4%; n = 3); for R. ornithinolytica, cystitis (36%; n = 9) followed by pneumonia (24%; n = 6). Immunodeficiency was present in 18 patients (56.3%) with R. planticola and in 16 patients (64%) with R. ornithinolytica infection. Of these, 55.6% and 37.5% had diabetes and 27.8% and 18.% were solid organ transplant recipients, respectively. All isolates were sensitive to third-generation cephalosporins, fluoroquinolones and aminoglycosides. Mortality of infections with R. planticola (n = 5; 15.6%) was higher than for R. ornithinolytica (n = 2; 8.0%), but the difference was not statistically significant. PMID:26357998

  17. Infarction of Uterine Fibroids After Embolization: Relationship Between Postprocedural Enhanced MRI Findings and Long-Term Clinical Outcomes

    SciTech Connect

    Katsumori, Tetsuya Kasahara, Toshiyuki; Kin, Yoko; Nozaki, Taiki

    2008-01-15

    Purpose. To retrospectively evaluate the relationship between the degree of infarction of uterine fibroids on enhanced MRI after embolization and long-term clinical outcomes. Methods. During 92 months, 290 consecutive patients with symptomatic uterine fibroids were treated with embolization; 221 who underwent enhanced MRI before embolization and 1 week after embolization were included in this study. The infarction rates of all fibroid tissue were assessed using enhanced MRI after embolization. Patients were divided into three groups according to the infarction rates: group A (100% infarction, n 142), group B (90-99% infarction, n = 74), group C (<90% infarction, n = 5). The cumulative rates of clinical outcomes were compared among groups using the Kaplan-Meier limited method. Results. Group A had a significantly higher rate of symptom control than groups B and C. The cumulative rates of symptom control at 5 years were 93%, 71%, and 60% in groups A, B, and C, respectively. Group A had a significantly lower rate of gynecologic intervention after embolization than groups B and C. The cumulative rates of additional gynecologic intervention at 5 years were 3%, 15%, and 20% in groups A, B, and C, respectively. Conclusions. The degree of infarction of uterine fibroids after embolization on enhanced MRI was related to long-term clinical outcomes. Complete infarction of all fibroid tissue can induce a higher rate of symptom control, with a lower rate of additional gynecologic intervention in the long term compared with incomplete infarction of fibroid tissue.

  18. Clinical findings and treatment outcomes for cats diagnosed with patent ductus arteriosus in the UK: a retrospective study of 19 cases (2004-2012).

    PubMed

    Wustefeld-Janssens, B G; Burrow, R; Mõtsküla, P; Martin, M; Dukes-McEwan, J

    2016-07-01

    Patent ductus arteriosus (PDA) is infrequently reported in cats and represents between 1-7.3 per cent of left to right shunting cardiac congenital anomalies. The objective of this study was to report the presenting complaints, clinical examination findings, diagnostic findings, treatment outcomes and survival times in cats diagnosed with a PDA in the UK. Medical records from three major UK referral centres were searched for cats that were diagnosed with PDA from January 2004 to December 2012. Data obtained for analysis included: signalment, clinical examination findings including murmur characteristics, diagnostic imaging findings, treatment outcomes and survival times. Nineteen cats were included in the analysis. The most common reason for referral was investigation of an incidentally detected heart murmur without clinical signs (13/19; 68 per cent). Pulmonary arterial hypertension (PAH) was diagnosed in seven (37 per cent) cats and those cats with PAH were significantly more likely to present with signs of disease (P=0.004). Median survival time in cats that were diagnosed with PDA and died due to cardiac causes was 898 days (interquartile range 459-1011 days). The median survival time of those cats that had an additional congenital anomaly was significantly shorter to those cats without a congenital anomaly (P=0.008). PMID:27302919

  19. Transcranial direct current stimulation for the treatment of major depressive disorder: a summary of preclinical, clinical and translational findings.

    PubMed

    Brunoni, Andre Russowsky; Ferrucci, Roberta; Fregni, Felipe; Boggio, Paulo Sergio; Priori, Alberto

    2012-10-01

    Major depressive disorder (MDD) is a common psychiatric illness, with 6-12% lifetime prevalence. It is also among the five most disabling diseases worldwide. Current pharmacological treatments, although relatively effective, present important side effects that lead to treatment discontinuation. Therefore, novel treatment options for MDD are needed. Here, we discuss the recent advancements of one new neuromodulatory technique--transcranial direct current stimulation (tDCS)--that has undergone intensive research over the past decade with promising results. tDCS is based on the application of weak, direct electric current over the scalp, leading to cortical hypo- or hyper-polarization according to the specified parameters. Recent studies have shown that tDCS is able to induce potent changes in cortical excitability as well as to elicit long-lasting changes in brain activity. Moreover, tDCS is a technique with a low rate of reported side effects, relatively easy to apply and less expensive than other neuromodulatory techniques--appealing characteristics for clinical use. In the past years, 4 of 6 phase II clinical trials and one recent meta-analysis have shown positive results in ameliorating depression symptoms. tDCS has some interesting, unique aspects such as noninvasiveness and low rate of adverse effects, being a putative substitutive/augmentative agent for antidepressant drugs, and low-cost and portability, making it suitable for use in clinical practice. Still, further phase II and phase III trials are needed as to better clarify tDCS role in the therapeutic arsenal of MDD. PMID:22651961

  20. How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples

    PubMed Central

    Middha, Sumit; Lindor, Noralane M.; McDonnell, Shannon K.; Olson, Janet E.; Johnson, Kiley J.; Wieben, Eric D.; Farrugia, Gianrico; Cerhan, James R.; Thibodeau, Stephen N.

    2015-01-01

    Whole exome sequencing (WES) is increasingly being used for diagnosis without adequate information on predictive characteristics of reportable variants typically found on any given individual and correlation with clinical phenotype. In this study, we performed WES on 89 deceased individuals (mean age at death 74 years, range 28–93) from the Mayo Clinic Biobank. Significant clinical diagnoses were abstracted from electronic medical record via chart review. Variants [Single Nucleotide Variant (SNV) and insertion/deletion] were filtered based on quality (accuracy >99%, read-depth >20, alternate-allele read-depth >5, minor-allele-frequency <0.1) and available HGMD/OMIM phenotype information. Variants were defined as Tier-1 (nonsense, splice or frame-shifting) and Tier-2 (missense, predicted-damaging) and evaluated in 56 ACMG-reportable genes, 57 cancer-predisposition genes, along with examining overall genotype–phenotype correlations. Following variant filtering, 7046 total variants were identified (~79/person, 644 Tier-1, 6402 Tier-2), 161 among 56 ACMG-reportable genes (~1.8/person, 13 Tier-1, 148 Tier-2), and 115 among 57 cancer-predisposition genes (~1.3/person, 3 Tier-1, 112 Tier-2). The number of variants across 57 cancer-predisposition genes did not differentiate individuals with/without invasive cancer history (P > 0.19). Evaluating genotype–phenotype correlations across the exome, 202(3%) of 7046 filtered variants had some evidence for phenotypic correlation in medical records, while 3710(53%) variants had no phenotypic correlation. The phenotype associated with the remaining 44% could not be assessed from a typical medical record review. These data highlight significant continued challenges in the ability to extract medically meaningful predictive results from WES. PMID:26257771

  1. Intravitreal Autologous Bone Marrow CD34+ Cell Therapy for Ischemic and Degenerative Retinal Disorders: Preliminary Phase 1 Clinical Trial Findings

    PubMed Central

    Park, Susanna S.; Bauer, Gerhard; Abedi, Mehrdad; Pontow, Suzanne; Panorgias, Athanasios; Jonnal, Ravi; Zawadzki, Robert J.; Werner, John S.; Nolta, Jan

    2015-01-01

    Purpose. Because human bone marrow (BM) CD34+ stem cells home into damaged tissue and may play an important role in tissue repair, this pilot clinical trial explored the safety and feasibility of intravitreal autologous CD34+ BM cells as potential therapy for ischemic or degenerative retinal conditions. Methods. This prospective study enrolled six subjects (six eyes) with irreversible vision loss from retinal vascular occlusion, hereditary or nonexudative age-related macular degeneration, or retinitis pigmentosa. CD34+ cells were isolated under Good Manufacturing Practice conditions from the mononuclear cellular fraction of the BM aspirate using a CliniMACs magnetic cell sorter. After intravitreal CD34+ cell injection, serial ophthalmic examinations, microperimetry/perimetry, fluorescein angiography, electroretinography (ERG), optical coherence tomography (OCT), and adaptive optics OCT were performed during the 6-month follow-up. Results. A mean of 3.4 million (range, 1–7 million) CD34+ cells were isolated and injected per eye. The therapy was well tolerated with no intraocular inflammation or hyperproliferation. Best-corrected visual acuity and full-field ERG showed no worsening after 6 months. Clinical examination also showed no worsening during follow-up except among age-related macular degeneration subjects in whom mild progression of geographic atrophy was noted in both the study eye and contralateral eye at 6-month follow-up, concurrent with some possible decline on multifocal ERG and microperimetry. Cellular in vivo imaging using adaptive optics OCT showed changes suggestive of new cellular incorporation into the macula of the hereditary macular degeneration study eye. Conclusions. Intravitreal autologous BM CD34+ cell therapy appears feasible and well tolerated in eyes with ischemic or degenerative retinal conditions and merits further exploration. (ClinicalTrials.gov number, NCT01736059.) PMID:25491299

  2. Pulmonary Intravascular Lymphomatosis: Clinical, CT, and PET Findings, Correlation of CT and Pathologic Results, and Survival Outcome.

    PubMed

    Cha, Min Jae; Lee, Kyung Soo; Hwang, Hye Sun; Kim, Tae Jung; Kim, Tae Sung; Kim, Byung-Tae; Ko, Young-Hyeh; Shim, Young Mog

    2016-08-01

    Purpose To describe clinical, computed tomographic (CT), and positron emission tomographic (PET) features, correlation of CT and pathologic results, and survival of patients with pulmonary intravascular lymphomatosis. Materials and Methods The institutional review board approved this retrospective study with waiver of patient consent. Forty-two patients with pulmonary intravascular lymphomatosis were identified, 11 (26%) of whom showed lung involvement. CT features were correlated with histopathologic results. Clinical and survival outcomes were compared between patients with and those without pulmonary involvement by adopting the χ(2), Student t, or Kaplan-Meier analysis with log-rank tests. Results At clinical presentation, all 11 patients showed B symptoms (systemic symptoms of fever, night sweats, and weight loss), 10 had respiratory and four had neurologic symptoms, and two had skin lesions. Patients received cyclophosphamide, doxorubicin, vincristine, and prednisone chemotherapy with (n = 5) or without (n = 6) rituximab, and seven (64%) patients died. Patients with lung involvement showed reduced overall and recurrence-free survival (median; 10.8 and 18.9 months, respectively) compared with those without lung involvement (median, 18.4 and 31.0 months, respectively) (P = .338 and .065, respectively). The most common CT abnormality was bilateral ground-glass opacity (GGO, n = 10), with increased fluorodeoxyglucose uptake at PET/CT (seven of seven patients). GGO correlated histopathologically with the expanded alveolar septal vasculatures and perivascular spaces filled with neoplastic lymphoid cells. Conclusion Pulmonary intravascular lymphomatosis appeared as bilateral GGO on CT images, with increased fluorodeoxyglucose uptake on PET/CT images. GGO on CT images correlated with the area of expanded alveolar septae because of distended vessels filled with neoplastic lymphoid cells. (©) RSNA, 2016 Online supplemental material is available for this article. PMID

  3. Clinically occult interstitial fibrosis in smokers: classification and significance of a surprisingly common finding in lobectomy specimens.

    PubMed

    Katzenstein, Anna-Luise A; Mukhopadhyay, Sanjay; Zanardi, Conrado; Dexter, Elizabeth

    2010-03-01

    This study reports the presence of surprisingly frequent and often severe interstitial fibrosis in cigarette smokers with no clinical evidence of interstitial lung disease. Twenty-three lobectomy specimens excised for neoplasms, including 20 from smokers, were extensively sampled, and examined semi-quantitatively for interstitial fibrosis, fibroblast foci, peribronchiolar metaplasia, honey-comb change, emphysema, and respiratory bronchiolitis. Interstitial fibrosis involving greater than 25% of slides was identified in 12 of 20 smokers (60%), but in none of the three never-smokers. Three cases were classified as specific forms of interstitial lung disease, including one each of usual interstitial pneumonia, Langerhans cell histiocytosis, and asbestosis. The remaining 9 cases did not fit with a named interstitial lung disease and were considered to represent examples of smoking-related interstitial fibrosis. This lesion was characterized by varying degrees of alveolar septal widening by collagen deposition along with emphysema and respiratory bronchiolitis. The fibrosis occurred both in subpleural and in deeper parenchyma. It surrounded enlarged airspaces of emphysema, but it also involved non-emphysematous parenchyma. Clinical progression was not documented in any case, although follow-up was short. These observations highlight the spectrum of unexpected fibrosis that is frequently encountered in lobectomy specimens from cigarette smokers. Additional investigation will be required to determine the clinical significance of smoking-related interstitial fibrosis and its relationship, if any, to other smoking-related diseases. It is important, however, that smoking-related interstitial fibrosis be distinguished from specific forms of fibrosing lung disease that may be associated with poor prognoses, especially usual interstitial pneumonia. PMID:20004953

  4. Efficacy of a classical antiobesity Unani pharmacopial formulation (Safoof-e-Muhazzil) in systolic and diastolic blood pressure: A randomized, open-labeled, controlled clinical study

    PubMed Central

    Khan, Asim Ali; Jahangir, Umar; Jalees, Farhan; Kapoor, Prem; Urooj, Shaista

    2013-01-01

    The aim of this study is to evaluate the efficacy of a Unani formulation in hypertension. A total of 90 patients with total cholesterol level of more than 220 mg/dl with associated conditions were included in this study. A total of 30 patients having a mean systolic blood pressure (BP) of 133.86 mmHg comprising Group A received Unani formulation Safoof-e-Muhazzil (SM) in its classical powder form in the dose of 5 g twice a day orally. Group B comprising of 30 patients with a mean systolic BP of 133.13 mmHg received same drug, but in compressed tablet form in the same dosage, whereas, 30 patients comprising Group C with a mean systolic BP of 129.45 mmHg, received Atorvastatin 10 mg as a standard control. Patients were evaluated on each follow-up at 2nd, 4th and 6th week. The mean systolic BP in Group A and B before treatment was 133.86 ± 3.028 mmHg and 133.13 ± 2.852 mmHg, which significantly decreased to 119.33 ± 1.922 mmHg (P < 0.001) and 119 ± 1.760 mmHg (P < 0.001) respectively. In the control Group C before treatment BP was 129.45 ± 2.499 mmHg and after treatment it significantly decreased to 124.34 ± 1.794 mmHg (P < 0.01). The percentage change after treatment was 10.85%, 10.61% and 3.94% respectively in each group. Mean diastolic BP in Group A and B before treatment was 85.06 ± 2.11 mmHg and 84.56 ± 1.5 mmHg, which significantly decreased to 79.06 ± 1.56 mmHg (P < 0.001) and 79.96 ± 1.15 mmHg (P < 0.001) respectively, BP before treatment in Group C was 83.23 ± 1.588 mmHg, which was decreased to 124.34 ± 1.794 mmHg (P < 0.01). The study results indicate that the test drug was quite effective in reducing both systolic as well as diastolic BP. PMID:24350049

  5. Clinical Presentation and Outcomes by Sex in Arrhythmogenic Right Ventricular Cardiomyopathy: Findings from the North American ARVC Registry

    PubMed Central

    Choudhary, Naila; Tompkins, Christine; Polonsky, Bronislava; Mcnitt, Scott; Calkins, Hugh; Estes, N. A. Mark; Krahn, Andrew D.; Link, Mark S.; Marcus, Frank I.; Towbin, Jeffrey A.; Zareba, Wojciech

    2016-01-01

    Clinical Presentation and Outcomes Background Sex differences in clinical presentation and outcomes of hereditary arrhythmias are commonly reported. We aimed to compare clinical presentation and outcomes in men and women with arrhythmogenic right ventricular cardiomyopathy (ARVC) enrolled in the North American ARVC Registry. Methods A total of 125 ARVC probands (55 females, mean age 38 ± 12; 70 males, mean age 41 ± 15) diagnosed, as either “affected” or “borderline” were included. Baseline clinical characteristics and time-dependent outcomes including syncope, ventricular tachycardia (VT), fast VT (>240 bpm), ventricular fibrillation (VF), and death were compared between males and females. Results The percentage of ARVC subjects diagnosed as “affected” (84% vs. 89%; P = 0.424) or “borderline” (16% vs. 11%; P = 0.424) was similar between females and males. Among the baseline characteristics, inverted T-waves in V2 trended to be more common in women (P = 0.09), whereas abnormal signal-averaged ECGs (SAECGs; P < 0.001) and inducible VT/VF (P = 0.026) were more frequent in men. During a mean follow-up of 37 ± 20 months, the probability of ICD-recorded VT/VF or death was not significantly different between men and women (P = 0.456). However, there was a trend toward lower risk of fast VT/VF or death in women compared to men (hazard ratio 0.41, 95% CI 0.151–1.113, P = 0.066). Abnormal SAECG and evidence of intramyocardial fat by cardiac MRI was associated with adverse outcomes in men (P = 0.006 and 0.02 respectively). Conclusion In the North American ARVC Registry, we found similar frequency of “affected” and “borderline” subjects between men and women. Sex-related differences were observed in baseline ECG, SAECG, Holter-recorded ventricular arrhythmias, and VT inducibility. Men showed a trend toward greater risk of fast VT than women. PMID:26840461

  6. Assessing the prevalence and clinical relevance of positive abdominal and pelvic CT findings in senior patients presenting to the emergency department.

    PubMed

    Alabousi, Abdullah; Patlas, Michael N; Meshki, Malek; Monteiro, Sandra; Katz, Douglas S

    2016-04-01

    The purpose of our study was to retrospectively evaluate the prevalence and clinical relevance of positive abdominal and pelvic CT findings for patients 65 years of age and older, when compared with all other scanned adult Emergency Department (ED) patients, at a single tertiary care hospital. Our hypothesis was that there is an increased prevalence and clinical relevance of positive abdominal/pelvic CT findings in senior patients. A research ethics board-approved retrospective review of all adult patients who underwent an emergency CT of the abdomen and pelvis for acute nontraumatic abdominal and/or pelvic signs and symptoms was performed. Two thousand one hundred two patients between October 1, 2011, and September 30, 2013, were reviewed. Six hundred thirty-one patients were included in the <65 group (298 men and 333 women; mean age 46, age range 18-64), and 462 were included in the >65 group (209 men and 253 women; mean age 77.6, age range 65-99). Overall, there were more positive CT findings for patients <65 (389 positive cases, 61.6 %) compared with the >65 group (257 positive cases, 55.6 %), which was a statistically significant difference (p < 0.03). Moreover, with the exception of complicated appendicitis cases, which were more common in the >65 group, there were no statistically significant differences in the clinical/surgical relevance of the positive CT findings between the two groups. The findings of our retrospective study therefore refute our hypothesis that there is an increased prevalence of positive abdominal CT findings in patients >65. This may be related to ED physicians at our institution being more hesitant to order CT examinations for the younger population, presumably due to radiation concerns. However, older patients in our series were more likely to present with complicated appendicitis, and a lower threshold for ordering CT examinations of the abdomen and pelvis in this patient population should therefore be considered. PMID

  7. Palifermin for the protection and regeneration of epithelial tissues following injury: new findings in basic research and pre-clinical models

    PubMed Central

    Finch, Paul W; Mark Cross, Lawrence J; McAuley, Daniel F; Farrell, Catherine L

    2013-01-01

    Keratinocyte growth factor (KGF) is a paracrine-acting epithelial mitogen produced by cells of mesenchymal origin, that plays an important role in protecting and repairing epithelial tissues. Pre-clinical data initially demonstrated that a recombinant truncated KGF (palifermin) could reduce gastrointestinal injury and mortality resulting from a variety of toxic exposures. Furthermore, the use of palifermin in patients with hematological malignancies reduced the incidence and duration of severe oral mucositis experienced after intensive chemoradiotherapy. Based upon these findings, as well as the observation that KGF receptors are expressed in many, if not all, epithelial tissues, pre-clinical studies have been conducted to determine the efficacy of palifermin in protecting different epithelial tissues from toxic injury in an attempt to model various clinical situations in which it might prove to be of benefit in limiting tissue damage. In this article, we review these studies to provide the pre-clinical background for clinical trials that are described in the accompanying article and the rationale for additional clinical applications of palifermin. PMID:24151975

  8. Drug Signature-based Finding of Additional Clinical Use of LC28-0126 for Neutrophilic Bronchial Asthma

    PubMed Central

    Shin, Eunji; Lee, Yong Chul; Kim, So Ri; Kim, Soon Ha; Park, Joonghoon

    2015-01-01

    In recent decades, global pharmaceutical companies have suffered from an R&D innovation gap between the increased cost of a new drug’s development and the decreased number of approvals. Drug repositioning offers another opportunity to fill the gap because the approved drugs have a known safety profile for human use, allowing for a reduction of the overall cost of drug development by eliminating rigorous safety assessment. In this study, we compared the transcriptional profile of LC28-0126, an investigational drug for acute myocardial infarction (MI) at clinical trial, obtained from healthy male subjects with molecular activity profiles in the Connectivity Map. We identified dyphilline, an FDA-approved drug for bronchial asthma, as a top ranked connection with LC28-0126. Subsequently, we demonstrated that LC28-0126 effectively ameliorates the pathophysiology of neutrophilic bronchial asthma in OVALPS-OVA mice accompanied with a reduction of inflammatory cell counts in the bronchoalveolar lavage fluid (BALF), inhibition of the release of proinflammatory cytokines, relief of airway hyperactivity, and improvement of histopathological changes in the lung. Taken together, we suggest that LC28-0126 could be a potential therapeutic for bronchial asthma. In addition, this study demonstrated the potential general utility of computational drug repositioning using clinical profiles of the investigational drug. PMID:26626943

  9. Myelin Oligodendrocyte Glycoprotein-Associated Pediatric Central Nervous System Demyelination: Clinical Course, Neuroimaging Findings, and Response to Therapy.

    PubMed

    Thulasirajah, Salini; Pohl, Daniela; Davila-Acosta, Jorge; Venkateswaran, Sunita

    2016-08-01

    Under the umbrella of pediatric-acquired demyelinating syndromes, there is a multitude of disorders, including optic neuritis, transverse myelitis, acute disseminated encephalomyelitis (ADEM), multiple sclerosis (MS), and neuromyelitis optica spectrum disorders (NMOSD). Due to overlapping clinical and magnetic resonance imaging (MRI) features, it can be challenging to provide an accurate diagnosis. In view of therapeutic and prognostic implications, an early and reliable diagnosis is however of utmost importance. Recent studies of myelin oligodendrocyte glycoprotein (MOG) identify MOG, as a promising target for antibody-mediated demyelination and a biomarker for a relatively benign and non-MS disease course. We describe the clinical and MRI presentation of five children presenting with an acute, severe central nervous system inflammatory disease involving the brain and spinal cord, all of whom were positive for MOG-IgG antibody. Encephalopathy was uncommon at presentation and all had quick resolution of symptoms with intravenous steroid and intravenous immunoglobulin (IVIG) treatment. All patients recovered well, and have been treated with IVIG to potentially prevent relapses. PMID:27128728

  10. Cervix carcinoma and incidental finding of medullary thyroid carcinoma by 18F-FDG PET/CT--clinical case.

    PubMed

    Chaushev, Borislav; Bochev, Pavel; Klisarova, Anelia; Yordanov, Kaloyan; Encheva, Elitsa; Dancheva, Jivka; Yordanova, Cvetelina; Hristozov, Kiril; Krasnaliev, Ivan; Radev, Radoslav; Nenkov, Rumen

    2014-01-01

    Thyroid nodules are encountered in clinical practice during the diagnostic procedures or patients' follow-up due to other diseases quite far from the thyroid gland with prevalence 4-50% in general population, depending on age, diagnostic method and race. The prevalence of thyroid nodules increases with age and their clarification should be done for their adequate treatment. An 18F-FDG PET/CT was done with a PET/CT scanner (Philips Gemini TF), consisting of dedicated lutetium orthosilicate full ring PET scanner and 16 slice CT. The PET/CT scan of the whole-body revealed on the CT portion a hypodense nodular lesion in the left lobe of the thyroid gland with increased uptake of 18F-FDG on the PET with SUVmax 10.3 and demonstrated a complete response to the induction therapy of the main oncological disease of the patient--squamous cell carcinoma. This clinical case demonstrates that whole-body 18F-FDG-PET/CT has an increasingly important role in the early evaluation of thyroid cancer as a second independent malignant localization. Focal thyroid lesion with high risk of thyroid malignancy was incidentally found on 18F-FDG PET/CT. PMID:25088110

  11. Clinical and Pathological Findings in Green Turtles (Chelonia mydas) from Gladstone, Queensland: Investigations of a Stranding Epidemic.

    PubMed

    Flint, Mark; Eden, Paul A; Limpus, Colin J; Owen, Helen; Gaus, Caroline; Mills, Paul C

    2015-06-01

    An investigation into the health of green turtles was undertaken near Gladstone, Queensland, in response to a dramatic increase in stranding numbers in the first half of 2011. A total of 56 live turtles were subject to clinical examination and blood sampling for routine blood profiles, and 12 deceased turtles underwent a thorough necropsy examination. This population of green turtles was found to be in poor body condition and a range of infectious and non-infectious conditions were identified in the unhealthy turtles, including hepato-renal insufficiency (up to 81%, 27/33 based on clinical pathology), cachexia (92%, 11/12), parasitism (75%, 9/12), cardiopulmonary anomalies (42%, 5/12), gastroenteritis (25%, 3/12), masses (25%, 3/12) and mechanical impediments (17%, 2/12 based on necropsy). Overall, there was no evidence to indicate a unifying disease as a primary cause of the mass mortality. Recent adverse weather events, historic regional contamination and nearby industrial activities are discussed as potential causative factors. PMID:25256011

  12. Drug Signature-based Finding of Additional Clinical Use of LC28-0126 for Neutrophilic Bronchial Asthma.

    PubMed

    Shin, Eunji; Lee, Yong Chul; Kim, So Ri; Kim, Soon Ha; Park, Joonghoon

    2015-01-01

    In recent decades, global pharmaceutical companies have suffered from an R&D innovation gap between the increased cost of a new drug's development and the decreased number of approvals. Drug repositioning offers another opportunity to fill the gap because the approved drugs have a known safety profile for human use, allowing for a reduction of the overall cost of drug development by eliminating rigorous safety assessment. In this study, we compared the transcriptional profile of LC28-0126, an investigational drug for acute myocardial infarction (MI) at clinical trial, obtained from healthy male subjects with molecular activity profiles in the Connectivity Map. We identified dyphilline, an FDA-approved drug for bronchial asthma, as a top ranked connection with LC28-0126. Subsequently, we demonstrated that LC28-0126 effectively ameliorates the pathophysiology of neutrophilic bronchial asthma in OVALPS-OVA mice accompanied with a reduction of inflammatory cell counts in the bronchoalveolar lavage fluid (BALF), inhibition of the release of proinflammatory cytokines, relief of airway hyperactivity, and improvement of histopathological changes in the lung. Taken together, we suggest that LC28-0126 could be a potential therapeutic for bronchial asthma. In addition, this study demonstrated the potential general utility of computational drug repositioning using clinical profiles of the investigational drug. PMID:26626943

  13. Consent for Genetics Studies Among Clinical Trial Participants: Findings from Action for Health in Diabetes (Look AHEAD)

    PubMed Central

    Espeland, Mark A.; Dotson, Kathy; Jaramillo, Sarah A.; Kahn, Steven E.; Harrison, Barbara; Montez, Maria; Foreyt, John P.; Montgomery, Brenda; Knowler, William C.

    2008-01-01

    Background Increasingly, genetic specimens are collected to expand the value of clinical trials through study of genetic effects on disease incidence, progression, or response to interventions. Purpose and methods We describe the experience obtaining IRB-approved DNA consent forms across the 19 institutions in the Action for Health in Diabetes (Look AHEAD), a clinical trial examining the effect of a lifestyle intervention for weight loss on the risk of serious cardiovascular events among individuals with type 2 diabetes. We document the rates participants provided consent for DNA research, identify participant characteristics associated with consent, and discuss implications for genetics research. Results IRB approval to participate was obtained from 17 of 19 institutions. The overall rate of consent was 89.6% among the 15 institutions that had completed consenting at the time of our analysis, which was higher than reported for other types of cohort studies. Consent rates were associated with factors expected to be associated with weight loss and cardiovascular disease and to affect the distribution of candidate genes. Non-consent occurred more frequently among participants grouped as African-American, Hispanic, female, more highly educated, or not dyslipidemic. Limitations The generalizabilty of results is limited by the inclusion/exclusion criteria of the trial. Conclusions Barriers to obtaining consent to participate in genetic studies may differ from other recruitment settings. Because of the potentially complex associations between personal characteristics related to adherence, outcomes, and gene distributions, differential rates of consent may introduce biases in estimates of genetic relationships. PMID:17060218

  14. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

    PubMed Central

    Burkitt Wright, Emma MM; Sach, Emma; Sharif, Saba; Quarrell, Oliver; Carroll, Thomas; Whitehouse, Richard W; Upadhyaya, Meena; Huson, Susan M; Evans, D Gareth R

    2013-01-01

    Background Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predominantly spinal neurofibromatosis has been identified in a small minority of families with NF1, often in association with a relative or absolute lack of cutaneous manifestations. An association with splicing and missense mutations has previously been reported for spinal neurofibromatosis, but on the basis of molecular results in only a few families. Method Patients with spinal NF1 were identified through the Manchester nationally commissioned service for complex NF1. Results Five families with spinal NF1 were identified, with a broad spectrum of NF1 mutations, providing further evidence that this phenotype may arise in association with any genre of mutation in this gene. Pigmentary manifestations were absent or very mild in affected individuals. Several further affected individuals, some with extensive spinal root tumours, were ascertained when additional family members were assessed. Conclusions Clinical NF1 consensus criteria cannot be used to exclude the diagnosis of spinal NF1, especially in childhood. This emphasises the importance of molecular confirmation in individuals and families with atypical presentations of NF1. PMID:23812910

  15. Identifying and addressing unmet clinical needs in Ph-neg classical myeloproliferative neoplasms: a consensus-based SIE, SIES, GITMO position paper.

    PubMed

    Barosi, Giovanni; Vannucchi, Alessandro M; De Stefano, Valerio; Pane, Fabrizio; Passamonti, Francesco; Rambaldi, Alessandro; Saglio, Giuseppe; Barbui, Tiziano; Tura, Sante

    2014-02-01

    This article presents the results of group discussion among experts from SIE, SIES and GITMO societies aimed at highlighting unmet challenges in the management of Ph-neg myeloproliferative neoplasms (MPNs). The issues analyzed were: diagnosis of prefibrotic myelofibrosis; diagnosis of Ph-neg MPNs in the setting of splanchnic vein thrombosis (SVT); management of low-risk PV and low-risk ET patients with JAK2V617F mutation; molecular biomarkers in the prognostic evaluation of myelofibrosis (MF); ruxolitinib therapy in low-risk MF; therapy in patients with SVT-associated Ph-neg MPN; indications of splenectomy in MF. For each of these issues, proposals for advancement in clinical research were addressed. PMID:24378116

  16. Impression conjunctival cytology in sicca syndrome - correlations between clinical and histological findings related to dry eye severity.

    PubMed

    Mocanu, Carmen LuminiŢa; Jurja, Sanda; Deca, Andreea Gabriela; Bîrjovanu, Florica; Olaru, Andrei; Popa, Denissa Greta; Ştefănescu-Dima, Alin Ştefan; Mănescu, Maria Rodica

    2016-01-01

    Keratoconjunctivitis sicca represents a progressive deterioration of ocular surface produced by a deficient secretion of lachrymal film (quantitative disorder) or excessive tear evaporation (qualitative disorder). The cytological analysis of conjunctival impression in 42 patients with dry eye syndrome established a strong correlation between the clinical grade of severity of disease and the grade of squamous metaplasia, including goblet cell loss. The cellular anomalies were represented by modifications of keratinization, epithelial cells' anisocytosis, anisochromia, the nuclear condensation and the cytoplasmic vacuolization. Pyknotic nuclei and anucleated cells were only seen in the most severe dry eye. The modifications in epithelial cells and conjunctival goblet cells reveal cellular sufferance, with an evident parallelism between these anomalies and clinico-functional signs in dry eye. Conjunctival impression provides an easy and quick identification of the lachrymal film alterations with high specificity and sensitivity, giving valuable information about the qualitative disorder. PMID:27151708

  17. [Effects of surgery on muscles on clinical and radiographic findings in the hip joint region in cerebral palsy patients].

    PubMed

    Schejbalová, A; Havlas, V

    2008-10-01

    PURPOSE OF THE STUDY Isolated or combined surgical procedures on muscles around the hip joint are currently indicated by many authors. In cerebral palsy patients they are regarded as essential intervention. MATERIAL In the years 2005-2007, surgery in the hip joint region was essential for 150 children between 3 and 18 years of age. At the time of surgery, the patients' locomotion ranged from stage 1 to stage 7 of the Vojta system. METHODS The outcome was evaluated by clinical and radiographic examination at 2 and 6 months post-operatively and hip migration percentage and Wiberg's CE angle were measured. RESULTS The best clinical and radiographic outcomes were achieved in children younger than 6 years of age. On the other hand, isolated transfer of the distal rectus femoris muscle significantly affected pelvis anteflexion in adolescent patients. The most marked decrease in migration percentage was found after adductor tenotomy combined with surgery on the iliopsoas muscle (55.6 %) or when the two procedures were combined with distal rectus femoris transfer. DISCUSSION Combined surigical procedures, i.e., adductor tenotomy, surgery on the iliopsoas muscle or rectus femoris muscle and medial hamstrings, with fixation using an abduction modified Atlanta brace, are effective in patients with marked lateral hip migration who are younger that 6 years. Isolated adductor tenotomy and distal transfer of the rectus femoris muscle markedly improve standing position in walking patients. CONCLUSION An appropriate combination of surgical procedures on muscles in the hip region and on medial hamstrings can significantly improve the patient's locomotion and, if lateral migration is present, help to avoid surgery on bones. PMID:19026189

  18. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

    PubMed

    Bertelloni, Silvano; Baldinotti, Fulvia; Russo, Gianni; Ghirri, Paolo; Dati, Eleonora; Michelucci, Angela; Moscuzza, Francesca; Meroni, Silvia; Colombo, Ilaria; Sessa, Maria R; Baroncelli, Giampiero I

    2016-01-01

    Clinical records (n = 24) with an established diagnosis of 5α-reductase-2 deficiency were reviewed. A previous misdiagnosis was present in about 70% (period from first observation to definitive diagnosis: 9.1 ± 10.8 years), and in 8 children gonadal removal was performed before certain diagnosis. Initial sex assignment was female in 16/24 (67%) and male in 8/24 (33%) cases. After diagnosis, sex re-assignment was performed in 5 babies (4 girls to male sex; 1 boy to female sex). Baseline testosterone/DHT ratio was diagnostic in 6/12 subjects (first months of life n = 4; puberty n = 2), while post-hCG testosterone/DHT ratio was diagnostic in all tested individuals (choosing both the cut-off value 15 or 10). Eighteen different mutations in the steroid-5α-reductase-2 (SRD5A2) gene were identified, 5 of which have never been reported. In conclusion, a time lag exists before the diagnosis of 5α-reductase-2 deficiency is established; sex assignment and gonadal removal may be performed before certain diagnosis. Sex re-assignment is usually female to male, but the contrary may occur. A large variability in clinical phenotypes and genetic mutations was present in this cohort. Accurate endocrine evaluation is recommended in babies possibly affected by 5α-reductase-2 deficiency, since the use of appropriate cut-off values of testosterone/DHT ratio after hCG stimulation may permit to select individuals for SRD5A2 gene analysis. A genotype-phenotype correlation was not found in this study. PMID:27070133

  19. JC Virus PCR Detection Is Not Infallible: A Fulminant Case of Progressive Multifocal Leukoencephalopathy with False-Negative Cerebrospinal Fluid Studies despite Progressive Clinical Course and Radiological Findings

    PubMed Central

    Babi, Mohamed-Ali; Pendlebury, William; Braff, Steven; Waheed, Waqar

    2015-01-01

    We describe a case with a false-negative PCR-based analysis for JC virus in cerebrospinal fluid (CSF) in a patient with clinical and radiological findings suggestive of progressive multifocal leukoencephalopathy (PML) who was on chronic immunosuppressive therapy for rheumatoid arthritis. Our patient developed rapidly progressive global decline with clinical and radiographic findings suggestive of PML, but JC virus PCR in CSF was negative. The patient passed away 3 months from the onset of her neurological symptoms. Autopsy confirmed the diagnosis of PML with presence of JC-polyoma virus by immunohistochemical staining. This case highlights the potential of false-negative JC virus PCR in CSF when radiographic and clinical features are suggestive of “possible PML.” We review the plausible causes of potential false-negative CSF results and suggest that when the clinical presentation is suspicious for PML repeat CSF analysis utilizing ultrasensitive PCR assay and subsequent brain biopsy should be considered if CSF remains negative. Additionally, appropriate exclusion of other neurologic conditions is essential. PMID:25861493

  20. The contribution of recent NSABP clinical trials of primary breast cancer therapy to an understanding of tumor biology--an overview of findings.

    PubMed

    Fisher, B; Redmond, C; Fisher, E R

    19