Is screening for abnormal ECG patterns justified in long-term follow-up of childhood cancer survivors treated with anthracyclines?

PubMed

Pourier, Milanthy S; Mavinkurve-Groothuis, Annelies M C; Loonen, Jacqueline; Bökkerink, Jos P M; Roeleveld, Nel; Beer, Gil; Bellersen, Louise; Kapusta, Livia

2017-03-01

ECG and echocardiography are noninvasive screening tools to detect subclinical cardiotoxicity in childhood cancer survivors (CCSs). Our aims were as follows: (1) assess the prevalence of abnormal ECG patterns, (2) determine the agreement between abnormal ECG patterns and echocardiographic abnormalities; and (3) determine whether ECG screening for subclinical cardiotoxicity in CCSs is justified. We retrospectively studied ECG and echocardiography in asymptomatic CCSs more than 5 years after anthracycline treatment. Exclusion criteria were abnormal ECG and/or echocardiogram at the start of therapy, incomplete follow-up data, clinical heart failure, cardiac medication, and congenital heart disease. ECG abnormalities were classified using the Minnesota Code. Level of agreement between ECG and echocardiography was calculated with Cohen kappa. We included 340 survivors with a mean follow-up of 14.5 years (range 5-32). ECG was abnormal in 73 survivors (21.5%), with ventricular conduction disorders, sinus bradycardia, and high-amplitude R waves being most common. Prolonged QTc (>0.45 msec) was found in two survivors, both with a cumulative anthracycline dose of 300 mg/m 2 or higher. Echocardiography showed abnormalities in 44 survivors (12.9%), mostly mild valvular abnormalities. The level of agreement between ECG and echocardiography was low (kappa 0.09). Male survivors more often had an abnormal ECG (corrected odds ratio: 3.00, 95% confidence interval: 1.68-5.37). Abnormal ECG patterns were present in 21% of asymptomatic long-term CCSs. Lack of agreement between abnormal ECG patterns and echocardiographic abnormalities may suggest that ECG is valuable in long-term follow-up of CCSs. However, it is not clear whether these abnormal ECG patterns will be clinically relevant. © 2016 Wiley Periodicals, Inc.

Abnormal/Emergency Situations. Impact of Unmanned Aircraft Systems Emergency and Abnormal Events on the National Airspace System

NASA Technical Reports Server (NTRS)

2006-01-01

Access 5 analyzed the differences between UAS and manned aircraft operations under five categories of abnormal or emergency situations: Link Failure, Lost Communications, Onboard System Failures, Control Station Failures and Abnormal Weather. These analyses were made from the vantage point of the impact that these operations have on the US air traffic control system, with recommendations for new policies and procedures included where appropriate.

[Ocular coloboma and results of brain MRI: preliminary results].

PubMed

Denis, D; Girard, N; Levy-Mozziconacci, A; Berbis, J; Matonti, F

2013-03-01

Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. We present a prospective study (2007-2011) in which we report brain MRI findings in children with ocular coloboma. Thirty-five children (54 eyes) were included; 15 boys, 20 girls with a median age of 24.0 months (1.0-96.0) at first presentation. Within 2 to 3 months following complete ophthalmologic examination, brain MRI was performed. Colobomas were bilateral in 19 cases and unilateral in 16 cases. Eleven different types of coloboma were identified. Of 54 eyes, 74% demonstrated optic nerve coloboma, of which 28 were severe. Of 35 MRI's performed, abnormalities were present in 86%: gyration abnormalities (n=21), lateral ventricular dilatation (n=17), dilatation of the Virchow-Robin and subarachnoid spaces (n=14), signal abnormalities and brain stem malformations (n=14), white matter signal abnormalities (n=11), corpus callosum abnormalities (n=10). Most of these abnormalities were related. Gyration abnormalities were the most frequent. There was no significant association between the severity of the coloboma and the abnormalities found (P=1.0). Likewise, there was no significant association of gyration abnormalities with the severity of coloboma in children (P=1.0). This study shows, for the first time, the existence of frequent cerebral abnormalities on MRI in children with ocular coloboma. The most common abnormality being gyration abnormalities, in 60% of cases. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives

PubMed Central

Walsh, Richard; O'Dwyer, John P; Sheikh, Ifthikar H; O'Riordan, Sean; Lynch, Tim; Hutchinson, Michael

2007-01-01

Background Most patients with adult onset primary torsion dystonia (AOPTD) have the sporadic form of the disease. They may however be the only manifesting family members of a poorly penetrant genetic disorder. Sensory changes, including structural abnormalities of the primary sensory cortex, are found in AOPTD. Spatial discrimination threshold (SDT), a measure of sensory cortical organisation, is abnormal in AOPTD and in unaffected relatives of patients with familial AOPTD. Our hypothesis was that abnormal SDTs might be found in unaffected relatives of patients with sporadic AOPTD. Methods SDTs were assessed at the index finger bilaterally by a grating orientation task. Normal age related SDTs were derived from 141 control subjects aged 20–64 years. SDTs were considered abnormal when greater than 2.5 SD above the control mean. In total, 105 of 171 (61%) eligible unaffected siblings and offspring of patients with cervical dystonia had SDT examined. Results Fourteen of 48 siblings (29%) and 10 of 57 (18%) offspring were found to have an abnormal SDT. Only five of the 20 patients examined had abnormal SDTs. In 11 of the 25 families, no abnormality was found in an unaffected relative. In the 14 families where at least one unaffected relative had an abnormal SDT, 14 of 37 siblings (38%) and 10 of 33 offspring (30%) had abnormal SDTs. Conclusion Sensory abnormalities found in unaffected relatives of patients with apparently sporadic AOPTD may be a surrogate marker for the carriage of an abnormal gene. PMID:17702779

The Nitrate-nitrite-NO pathway and its implications for Heart Failure and Preserved Ejection Fraction

PubMed Central

Chirinos, Julio A.; Zamani, Payman

2016-01-01

The pathogenesis of exercise intolerance in patients with heart failure and preserved ejection fraction (HFpEF) is likely multifactorial. In addition to cardiac abnormalities (diastolic dysfunction, abnormal contractile reserve, chronotropic incompetence), several peripheral abnormalities are likely to be involved. These include abnormal pulsatile hemodynamics, abnormal arterial vasodilatory responses to exercise, and abnormal peripheral O2 delivery, extraction and utilization. The nitrate-nitrite-NO pathway is emerging as a potential target to modify key physiologic abnormalities, including late systolic LV load from arterial wave reflections (which has deleterious short- and long-term consequences for the LV), arterial vasodilatory reserve, muscle O2 delivery, and skeletal muscle mitochondrial function. In a recently completed randomized trial, the administration of a single dose of exogenous inorganic nitrate has been shown exert various salutary arterial hemodynamic effects, ultimately leading to enhanced aerobic capacity in patients with HFpEF. These effects have the potential for both immediate improvements in exercise tolerance and for long-term “disease-modifying” effects. In this review, we provide an overview of key mechanistic contributors to exercise intolerance in HFpEF, and of the potential therapeutic role of drugs that target the nitrate-nitrite-NO pathway. PMID:26792295

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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

Greenberg, F.; Lewis, R.A.; Potocki, L.

1996-03-29

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65% brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of themore » collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter. 42 refs., 2 figs., 3 tabs.« less

Added Value of Including Entire Brain on Body Imaging With FDG PET/MRI.

PubMed

Franceschi, Ana M; Matthews, Robert; Bangiyev, Lev; Relan, Nand; Chaudhry, Ammar; Franceschi, Dinko

2018-05-24

FDG PET/MRI examination of the body is routinely performed from the skull base to the mid thigh. Many types of brain abnormalities potentially could be detected on PET/MRI if the head was included. The objective of this study was therefore to identify and characterize brain findings incidentally detected on PET/MRI of the body with the head included. We retrospectively identified 269 patients with FDG PET/MRI whole-body scans that included the head. PET/MR images of the brain were reviewed by a nuclear medicine physician and neuroradiologist, first individually and then concurrently. Both PET and MRI findings were identified, including abnormal FDG uptake, standardized uptake value, lesion size, and MRI signal characteristics. For each patient, relevant medical history and prior imaging were reviewed. Of the 269 subjects, 173 were women and 96 were men (mean age, 57.4 years). Only the initial PET/MR image of each patient was reviewed. A total of 37 of the 269 patients (13.8%) had abnormal brain findings noted on the PET/MRI whole-body scan. Sixteen patients (5.9%) had vascular disease, nine patients (3.3%) had posttherapy changes, and two (0.7%) had benign cystic lesions in the brain. Twelve patients (4.5%) had serious nonvascular brain abnormalities, including cerebral metastasis in five patients and pituitary adenomas in two patients. Only nine subjects (3.3%) had a new neurologic or cognitive symptom suggestive of a brain abnormality. Routine body imaging with FDG PET/MRI of the area from the skull base to the mid thigh may miss important brain abnormalities when the head is not included. The additional brain abnormalities identified on whole-body imaging may provide added clinical value to the management of oncology patients.

Frequency of metabolic abnormalities in urinary stones patients

PubMed Central

Ahmad, Iftikhar; Pansota, Mudassar Saeed; Tariq, Muhammad; Tabassum, Shafqat Ali

2013-01-01

Objective: To determine the frequency of metabolic abnormalities in the serum and urine of patients with urinary stones disease. Methods: Two hundred patients with either multiple or recurrent urolithiasis diagnosed on ultrasonography and intravenous urography were included in this study. 24 hour urine sample were collected from each patient and sent for PH, specific gravity, Creatinine, uric acid, calcium, phosphate, oxalate, citrate and magnesium. In addition, blood sample of each patient was also sent for serum levels of urea, creatinine, uric acid, phosphate and calcium. Results: Mean age of patients was 38 ± 7.75 years with male to female ratio of 2:1. The main presenting complaint was lumber pain and 82.5% patients were found to have calcium oxalate stones on chemical analysis. Metabolic abnormalities were found in 90.5% patients, whereas there were no metabolic abnormalities in 19 (9.5%) patients. Forty patients (21.5%) only had one metabolic abnormality and 157 (78.5%) patients had multiple metabolic abnormalities. Hyperoxaluria was the most commonly observed metabolic abnormality and was found in 64.5% patients. Other significant metabolic abnormalities were hypercalciuria, Hypercalcemia, hypocitraturia and hyperuricemia. Conclusion: This study concludes that frequency of metabolic abnormalities is very high in patients with urolithiasis and hyperoxaluria, hypercalciuria and hypocitraturia are the most important metabolic abnormalities observed in these patients. PMID:24550954

Frequency of metabolic abnormalities in urinary stones patients.

PubMed

Ahmad, Iftikhar; Pansota, Mudassar Saeed; Tariq, Muhammad; Tabassum, Shafqat Ali

2013-11-01

To determine the frequency of metabolic abnormalities in the serum and urine of patients with urinary stones disease. Two hundred patients with either multiple or recurrent urolithiasis diagnosed on ultrasonography and intravenous urography were included in this study. 24 hour urine sample were collected from each patient and sent for PH, specific gravity, Creatinine, uric acid, calcium, phosphate, oxalate, citrate and magnesium. In addition, blood sample of each patient was also sent for serum levels of urea, creatinine, uric acid, phosphate and calcium. Mean age of patients was 38 ± 7.75 years with male to female ratio of 2:1. The main presenting complaint was lumber pain and 82.5% patients were found to have calcium oxalate stones on chemical analysis. Metabolic abnormalities were found in 90.5% patients, whereas there were no metabolic abnormalities in 19 (9.5%) patients. Forty patients (21.5%) only had one metabolic abnormality and 157 (78.5%) patients had multiple metabolic abnormalities. Hyperoxaluria was the most commonly observed metabolic abnormality and was found in 64.5% patients. Other significant metabolic abnormalities were hypercalciuria, Hypercalcemia, hypocitraturia and hyperuricemia. This study concludes that frequency of metabolic abnormalities is very high in patients with urolithiasis and hyperoxaluria, hypercalciuria and hypocitraturia are the most important metabolic abnormalities observed in these patients.

Prevalence of prenatal brain abnormalities in fetuses with congenital heart disease: a systematic review.

PubMed

Khalil, A; Bennet, S; Thilaganathan, B; Paladini, D; Griffiths, P; Carvalho, J S

2016-09-01

Studies have shown an association between congenital heart defects (CHDs) and postnatal brain abnormalities and neurodevelopmental delay. Recent evidence suggests that some of these brain abnormalities are present before birth. The primary aim of this study was to perform a systematic review to quantify the prevalence of prenatal brain abnormalities in fetuses with CHDs. MEDLINE, EMBASE and The Cochrane Library were searched electronically. Reference lists within each article were hand-searched for additional reports. The outcomes observed included structural brain abnormalities (on magnetic resonance imaging (MRI)) and changes in brain volume (on MRI, three-dimensional (3D) volumetric MRI, 3D ultrasound and phase-contrast MRI), brain metabolism or maturation (on magnetic resonance spectroscopy and phase-contrast MRI) and brain blood flow (on Doppler ultrasound, phase-contrast MRI and 3D power Doppler ultrasound) in fetuses with CHDs. Cohort and case-control studies were included and cases of chromosomal or genetic abnormalities, case reports and editorials were excluded. Proportion meta-analysis was used for analysis. Between-study heterogeneity was assessed using the I(2) test. The search yielded 1943 citations, and 20 studies (n = 1175 cases) were included in the review. Three studies reported data on structural brain abnormalities, while data on altered brain volume, metabolism and blood flow were reported in seven, three and 14 studies, respectively. The three studies (221 cases) reporting on structural brain abnormalities were suitable for inclusion in a meta-analysis. The prevalence of prenatal structural brain abnormalities in fetuses with CHD was 28% (95% CI, 18-40%), with a similar prevalence (25% (95% CI, 14-39%)) when tetralogy of Fallot was considered alone. These abnormalities included ventriculomegaly (most common), agenesis of the corpus callosum, ventricular bleeding, increased extra-axial space, vermian hypoplasia, white-matter abnormalities and delayed brain development. Fetuses with CHD were more likely than those without CHD to have reduced brain volume, delay in brain maturation and altered brain circulation, most commonly in the form of reduced middle cerebral artery pulsatility index and cerebroplacental ratio. These changes were usually evident in the third trimester, but some studies reported them from as early as the second trimester. In the absence of known major aneuploidy or genetic syndromes, fetuses with CHD are at increased risk of brain abnormalities, which are discernible prenatally. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

[Role of BoBs technology in early missed abortion chorionic villi].

PubMed

Li, Z Y; Liu, X Y; Peng, P; Chen, N; Ou, J; Hao, N; Zhou, J; Bian, X M

2018-05-25

Objective: To investigate the value of bacterial artificial chromosome-on-beads (BoBs) technology in the genetic analysis of early missed abortion chorionic villi. Methods: Early missed abortion chorionic villi were detected with both conventional karyotyping method and BoBs technology in Peking Union Medical Hospital from July 2014 to March 2015. Compared the results of BoBs with conventional karyotyping analysis to evaluate the sensitivity, specificity and accuracy of this new method. Results: (1) A total of 161 samples were tested successfully in the technology of BoBs, 131 samples were tested successfully in the method of conventional karyotyping. (2) All of the cases obtained from BoBs results in (2.7±0.6) days and obtained from conventional karyotyping results in (22.5±1.9) days. There was significant statistical difference between the two groups ( t= 123.315, P< 0.01) . (3) Out of 161 cases tested in BoBs, 85 (52.8%, 85/161) cases had the abnormal chromosomes, including 79 cases chromosome number abnormality, 4 cases were chromosome segment deletion, 2 cases mosaic. Out of 131 cases tested successfully in conventional karyotyping, 79 (60.3%, 79/131) cases had the abnormal chromosomes including 62 cases chromosome number abnormality, 17 cases other chromosome number abnormality, and the rate of chromosome abnormality between two methods was no significant differences ( P =0.198) . (4) Conventional karyotyping results were served as the gold standard, the accuracy of BoBs for abnormal chromosomes was 82.4% (108/131) , analysed the normal chromosomes (52 cases) and chromosome number abnormality (62 cases) tested in conventional karyotyping, the accuracy of BoBs for chromosome number abnormality was 94.7% (108/114) . Conclusion: BoBs is a rapid reliable and easily operated method to test early missed abortion chorionic villi chromosomal abnormalities.

Evaluation of thoracic radiographs as a screening test for dogs and cats admitted to a tertiary-care veterinary hospital for noncardiopulmonary disease.

PubMed

Keyserling, Christine L; Buriko, Yekaterina; Lyons, Bridget M; Drobatz, Kenneth J; Fischetti, Anthony J

2017-09-01

Thoracic radiographs are used as a screening tool for dogs and cats with a variety of disorders that have no clinical signs associated with thoracic structures. However, this practice has never been supported by an evidence-based study. The objective of this retrospective observational study was to determine if certain canine and feline populations have a higher proportion of radiographic abnormalities, and whether any of these abnormalities are associated with patient hospitalization and outcome. Patients were excluded if current or previous examinations revealed evidence of primary respiratory or cardiac disease, malignant neoplasia, or an abnormal breathing pattern consistent with pulmonary pathology. Any notable thoracic change in the radiology report was considered important and evaluated in this study. One hundred and sixty-six of these included patients were dogs and 65 were cats. Of the 166 dog radiographs evaluated, 120 (72.3%) had normal thoracic radiographs, while 46 (27.7%) had radiographic abnormalities. Of the sixty-five cats included, 36 (55.4%) had normal radiographs, while 29 (44.6%) had abnormal radiographs. Canine patients with abnormal radiographs had a significantly higher lactate level (P-value 0.0348) and feline patients with abnormal radiographs had a significantly lower packed cell volume (P-value 0.012). A large proportion of patients that had screening thoracic radiographs (32.5%) had documented abnormalities, but a relatively low percentage (6.5%) of our total population had their clinical plan changed as a consequence of detection of these abnormalities. Findings indicated that abnormal screening thoracic radiographs are more likely in dogs with an elevated lactate and cats with anemia, or a low normal hematocrit. © 2017 American College of Veterinary Radiology.

Immune Abnormalities in Patients with Autism.

ERIC Educational Resources Information Center

Warren, Reed P.; And Others

1986-01-01

A study of 31 autistic patients (3-28 years old) has revealed several immune-system abnormalities, including decreased numbers of T lymphocytes and an altered ratio of helper-to-suppressor T cells. Immune-system abnormalities may be directly related to underlying biologic processes of autism or an indirect reflection of the actual pathologic…

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

PubMed

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

2018-03-01

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

Lack of Association of ST-T Wave Abnormalities to Congenital Heart Disease in Neonates.

PubMed

Gorla, Sudheer R; Hsu, Daphne T; Kulkarni, Aparna

2016-09-01

ST-T wave (STTW) abnormalities have been described in 20-40% of normal newborns. We sought to describe the associations of these Electrocardiogram (ECG) abnormalities to perinatal course and congenital heart disease (CHD). A retrospective chart review was performed on all neonatal ECGs between January 2008 and March 2013 identified from electronic medical records. Electronic medical records were reviewed for perinatal course and maternal medical conditions. Neonates <37 weeks gestation, >3 days age, requiring hemodynamic support in the first 3 days, with oxygen saturation <90% on room air, or with arrhythmias and significant abnormalities of axis and voltage were excluded from the analysis. ST segment elevation or depression of >2 mm in at least one lead and flat or inverted T waves in at least one lead except aVR were considered abnormal. Statistical relationships were explored between STTW abnormalities, perinatal variables and CHD. ECGs were performed on 1043 neonates, of which 664 were included. STTW abnormalities were found in 236 (35.5%) neonates. T wave abnormalities were identified in 191 (28.7%), ST segment abnormalities in 77 (11.6%) and both on 32 (4.8%) neonates. No relationship was found between the ECG abnormalities and perinatal variables, except maternal cefazolin administration during labor. Noncritical CHD was diagnosed by echocardiography in 59/84; STTW abnormalities were seen in 17/59 (29%) patients with and 9/25 (34%) without noncritical CHD, P = .6. STTW abnormalities on ECG are commonly found in 35.5% of normal neonates and do not predict noncritical CHD. © 2016 Wiley Periodicals, Inc.

Mitral valve regurgitation

MedlinePlus

... to help prevent blood clots in people with atrial fibrillation Drugs that help control uneven or abnormal heartbeats ... that may develop include: Abnormal heart rhythms , including atrial fibrillation and possibly more serious, or even life-threatening ...

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

PubMed

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

2009-10-01

Liver involvement is common in patients with inflammatory bowel disease (IBD). However, the frequency and the significance of liver function test (LFT) abnormalities in patients with ileal pouch-anal anastomosis (IPAA) for underlying IBD have not been studied. The aim of this study was to evaluate the prevalence and to identify risk factors for abnormal LFTs in patients with IPAA and underlying IBD. All patients were identified from our prospectively maintained Pouchitis Database between 2002 and 2008. Abnormal LFTs were classified as the following: (i) any abnormal elevation of transaminases, and/or alkaline phosphatase (ALP), and/or bilirubin; (ii) hepatitis, if there was more than twice the elevation of transaminases; and (iii) cholestatic, if there was more than 1.5 times elevation of ALP. Clinical, endoscopic, and histological variables were assessed using Cox proportional hazard models for evaluating risk for abnormal LFTs. A total of 545 IPAA patients with underlying IBD were identified from the database, of which 373 patients who had LFTs done after their pouch surgery were included. This included 346 patients with ulcerative colitis, 25 with indeterminate colitis, and 2 with Crohn's colitis before surgery. Their mean age was 45.9+/-13.8 years. A total of 65 patients (17.4%) (40 men, 25 women, median age: 47 years) had abnormal LFTs. Of the patients, 52 (13.9%) had abnormal transaminases, whereas 15 (4%) were classified as having hepatitis. Thirty-five (9.4%) patients had an abnormal ALP level, with 18 (4.8%) classified as cholestatic. The most common cause of an abnormal LFT was transient elevation in 32 (49.2%) patients, followed by fatty liver (fatty change on imaging with body mass index (BMI) > or =25 kg/m(2) in the absence of other causes, including alcohol abuse and drug-induced hepatitis) in 10 (15.4%), drug-induced abnormal LFTs in 7 (10.7%), and chronic hepatitis B or C in 6 (9.2%). Primary sclerosing cholangitis (PSC) was responsible for abnormal LFTs in 10 patients (15.4%). Cox proportional hazard model analysis showed that BMI (hazard ratio (HR)=1.07, 95% confidence interval (95% CI): 1.02, 1.12; P=0.003), the presence of PSC (HR=4.49, 95% CI: 1.45, 13.89; P=0.009), autoimmune disorder (HR=2.54, 95% CI: 1.09, 5.93; P=0.031), a family history of IBD (HR=2.32, 95% CI: 1.29, 4.17; P=0.005), and extensive colitis before colectomy (HR=4.59, 95% CI: 2.04, 10.33; P<0.001) predicted any abnormal LFTs. Abnormal LFTs were common in patients with IPAA in this cohort. The presence of co-existing autoimmune disorder, a family history of IBD, extensive colitis before colectomy, the presence of PSC, and a high BMI appear to be a significant risk factors for abnormal LFTs. Whether abnormal LFTs affect health-related quality of life, pouch survival, and selection of pouch-related medical therapy requires further investigation.

Abnormal hematologic findings in an African hedgehog (Atelerix albiventris) with gastrointestinal lymphosarcoma.

PubMed

Helmer, P J

2000-06-01

A 4-year-old African hedgehog (Atelerix albiventris) was examined for weight loss and hematochezia, and was subsequently diagnosed with gastrointestinal lymphosarcoma. Abnormal hematological findings included marked leukocytosis with lymphocytosis and atypical circulating lymphocytes. This report represents the first documentation of hemogram abnormalities associated with gastrointestinal lymphosarcoma in this species.

[Automated hematology analysers and spurious counts Part 3. Haemoglobin, red blood cells, cell count and indices, reticulocytes].

PubMed

Godon, Alban; Genevieve, Franck; Marteau-Tessier, Anne; Zandecki, Marc

2012-01-01

Several situations lead to abnormal haemoglobin measurement or to abnormal red blood cells (RBC) counts, including hyperlipemias, agglutinins and cryoglobulins, haemolysis, or elevated white blood cells (WBC) counts. Mean (red) cell volume may be also subject to spurious determination, because of agglutinins (mainly cold), high blood glucose level, natremia, anticoagulants in excess and at times technological considerations. Abnormality related to one measured parameter eventually leads to abnormal calculated RBC indices: mean cell haemoglobin content is certainly the most important RBC parameter to consider, maybe as important as flags generated by the haematology analysers (HA) themselves. In many circumstances, several of the measured parameters from cell blood counts (CBC) may be altered, and the discovery of a spurious change on one parameter frequently means that the validity of other parameters should be considered. Sensitive flags allow now the identification of several spurious counts, but only the most sophisticated HA have optimal flagging, and simpler ones, especially those without any WBC differential scattergram, do not share the same capacity to detect abnormal results. Reticulocytes are integrated into the CBC in many HA, and several situations may lead to abnormal counts, including abnormal gating, interference with intraerythrocytic particles, erythroblastosis or high WBC counts.

Benign paroxysmal vertigo of childhood: diagnostic value of vestibular test and high stimulus rate auditory brainstem response test.

PubMed

Zhang, Daogong; Fan, Zhaomin; Han, Yuechen; Wang, Mingming; Xu, Lei; Luo, Jianfen; Ai, Yu; Wang, Haibo

2012-01-01

To investigate the diagnostic value of vestibular test and high stimulus rate auditory brainstem response (ABR) test and the possible mechanism responsible for benign paroxysmal vertigo of childhood (BPVC). Data of 56 patients with BPVC in vertigo clinic of our hospital from May 2007 to September 2008 were retrospectively analyzed in this study. Patients with BPVC were tested with pure tone audiometry, high stimulus rate auditory brainstem response test (ABR), transcranial Doppler sonography (TCD), bithermal caloric test, and VEMP. The results of the hearing and vestibular function test were compared and analyzed. There were 56 patients with BPVC, including 32 men, 24 women, aged 3-12 years old, with an average of 6.5 years. Among 56 cases of BPVC patients, the results of pure tone audiometry were all normal. High stimulus rate ABR was abnormal in 66.1% (37/56) of cases. TCD showed 57.1% abnormality in 56 cases, including faster flow rate in 28 cases and slower flow rate in 4 cases. High stimulus rate ABR and TCD were both abnormal in 48.2% (27/56) of cases. Bithermal caloric test was abnormal in 14.3% (8/56) of cases. VEMP showed 32.1% abnormality, including amplitude abnormality in 16 cases and latency abnormality in 2 cases. The abnormal rate of VEMP was much higher than that of caloric test. Vascular mechanisms might be involved in the pathogenesis of BPVC and there is strong evidence for close relationship between BPVC and migraine. High stimulus rate ABR is helpful in the diagnosis of BPVC. The inferior vestibular pathway is much more impaired than the superior vestibular pathway in BPVC. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

[Research on the incidence and prevalence of congenital abnormalities in Iaşi district and Iaşi city, from 2001 to 2008].

PubMed

Chiosac, Alina Andreea Andreescu; Manole, Alina; Gorduza, E V; Stamatin, Maria; Titianus, Monica; Ivan, A

2010-01-01

Congenital abnormalities (CA) are deviations from the normal embryonic development that appear antenatal and they are characterized by the alteration of the morphology and function of an organ, system of organs or even of the entire body. The study, on a period of eight years, included 1685 children with CA, from which 58% were males and 50% were from the country-side. It has been observed that 36% of the CA cases were premature births and 64% were normal term births. Also, 21% of the children with CA weighed less than 2700 grams at birth and 79% weighed more than 2700 grams at birth. The birth's APGAR score has been less than 7 in 30% of the cases and higher than 7 in 70% of the cases. 72% of the cases were natural births and 28% were caesarian births. 88% of the CA cases were singular congenital abnormalities and 12% were multiple congenital abnormalities. 24% of the CA were cardiac abnormalities and 21% were skeletal abnormalities. 3% of the subjects of the study have died, of which 69% died from cardiac abnormalities, 22% from hydrocephalus abnormalities, 7% from diaphragmatic hernia and 2% from renal congenital abnormalities.

COMPARISON OF REAL-TIME MICROVASCULAR ABNORMALITIES IN PEDIATRIC AND ADULT SICKLE CELL ANEMIA PATIENTS

PubMed Central

Cheung, Anthony T.W.; Miller, Joshua W.; Craig, Sarah M.; To, Patricia L.; Lin, Xin; Samarron, Sandra L.; Chen, Peter C.Y.; Zwerdling, Theodore; Wun, Ted; Li, Chin-Shang; Green, Ralph

2010-01-01

The conjunctival microcirculation in 14 pediatric and 8 adult sickle cell anemia (SCA) patients was studied using computer-assisted intravital microscopy. The bulbar conjunctiva in SCA patients in both age groups exhibited a blanched/avascular appearance characterized by decreased vascularity. SCA patients from both age groups had many of the same abnormal morphometric {vessel diameter, vessel distribution, morphometry (shape), tortuosity, arteriole:venule (A:V) ratio, and hemosiderin deposits} and dynamic {vessel sludging/sludged flow, boxcar blood (trickled) flow and abnormal flow velocity} abnormalities. A severity index (SI) was computed to quantify the degree of vasculopathy for comparison between groups. The severity of vasculopathy differed significantly between the pediatric and adult patients (SI: 4.2 ± 1.8 vs 6.6 ± 2.4; p=0.028), indicative of a lesser degree of overall severity in the pediatric patients. Specific abnormalities that were less prominent in the pediatric patients included abnormal vessel morphometry and tortuosity. Sludged flow, abnormal vessel distribution, abnormal A:V ratio, and boxcar flow, appeared in high prevalence in both age groups. The results indicate that SCA microvascular abnormalities develop in childhood and the severity of vasculopathy likely progresses with age. Intervention and effective treatment/management modalities should target pediatric patients to ameliorate, slow down or prevent progressive microvascular deterioration. PMID:20872552

Abnormal findings in peers during skills learning.

PubMed

Wearn, Andy; Nakatsuji, Miriam; Bhoopatkar, Harsh

2017-02-01

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

Evaluation of coronal shift as an indicator of neuroaxial abnormalities in adolescent idiopathic scoliosis: a prospective study

PubMed Central

2014-01-01

Background In previous studies, many indicator factors have been proposed to select patients who need an MRI screening of the spinal canal. In current study, the clinical and radiologic factors including coronal parameters of the curve were evaluated to find out which indicator is more important. Methods A prospective study included 143 consecutive patients with the diagnosis of adolescent idiopathic scoliosis who were treated between 2010 and 2013 at our spinal clinics. Only patients with normal or subtle neurologic findings were included. All patients were evaluated by a total spine MRI protocol for examination of neuroaxial abnormalities. Known indicators and also coronal shift were analysed in all patients with or without abnormal MRI. Results The incidence of neuroaxial abnormalities was 11.9% (17 of 143); only 5 patients (3.5%) were operated to treat their neuroaxial problem. The significant indicators of the abnormalities in our patients were: younger age at onset, asymmetric superficial abdominal reflex and, coronal shift more than 15 mm (P = 0.03). Some previously known indicators like atypical curves, male gender, double curves and absence of thoracic lordosis were not different between two groups of the patients. Conclusions A total spine MRI is recommended at presentation in patients with younger age, abnormal neurologic findings and severe coronal shift. PMID:25071863

Abnormal hematologic findings in an African hedgehog (Atelerix albiventris) with gastrointestinal lymphosarcoma.

PubMed Central

Helmer, P J

2000-01-01

A 4-year-old African hedgehog (Atelerix albiventris) was examined for weight loss and hematochezia, and was subsequently diagnosed with gastrointestinal lymphosarcoma. Abnormal hematological findings included marked leukocytosis with lymphocytosis and atypical circulating lymphocytes. This report represents the first documentation of hemogram abnormalities associated with gastrointestinal lymphosarcoma in this species. PMID:10857034

Brain and bone abnormalities of thanatophoric dwarfism.

PubMed

Miller, Elka; Blaser, Susan; Shannon, Patrick; Widjaja, Elysa

2009-01-01

The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism. The bony abnormalities associated with thanatophoric dwarfism include marked shortening of the tubular bones and ribs. Abnormal temporal lobe development is a common associated feature and can be visualized as early as the second trimester. It is important to assess the brains of fetuses with suspected thanatophoric dwarfism because the presence of associated brain malformations can assist in the antenatal diagnosis of thanatophoric dwarfism.

Advances in understanding paternally transmitted Chromosomal Abnormalities

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

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

2001-03-01

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

Diagnosis of Chronic Pancreatitis Incorporating Endosonographic Features, Demographics, and Behavioral Risk.

PubMed

Lee, Linda S; Tabak, Ying P; Kadiyala, Vivek; Sun, Xiaowu; Suleiman, Shadeah; Johannes, Richard S; Banks, Peter A; Conwell, Darwin L

2017-03-01

Diagnosing chronic pancreatitis remains challenging. Endoscopic ultrasound (EUS) is utilized to evaluate pancreatic disease. Abnormal pancreas function test is considered the "nonhistologic" criterion standard for chronic pancreatitis. We derived a prediction model for abnormal endoscopic pancreatic function test (ePFT) by enriching EUS findings with patient demographic and pancreatitis behavioral risk characteristics. Demographics, behavioral risk characteristics, EUS findings, and peak bicarbonate results were collected from patients evaluated for pancreatic disease. Abnormal ePFT was defined as peak bicarbonate of less than 75 mEq/L. We fit a logistic regression model and converted it to a risk score system. The risk score was validated using 1000 bootstrap simulations. A total of 176 patients were included; 61% were female with median age of 48 years (interquartile range, 38-57 years). Abnormal ePFT rate was 39.2% (69/176). Four variables formulated the risk score: alcohol or smoking status, number of parenchymal abnormalities, number of ductal abnormalities, and calcifications. Abnormal ePFT occurred in 10.7% with scores 4 or less versus 92.0% scoring 20 or greater. The model C-statistic was 0.78 (95% confidence interval, 0.71-0.85). Number of EUS pancreatic duct and parenchymal abnormalities, presence of calcification, and smoking/alcohol status were predictive of abnormal ePFT. This simple model has good discrimination for ePFT results.

The usefulness of MR defecography in the evaluation of pelvic floor dysfunction: our experience using 3T MRI.

PubMed

Al-Najar, Mahasen S; Ghanem, Ahmed F; AlRyalat, Saif Aldeen S; Al-Ryalat, Nosaiba T; Alhajahjeh, Sultan O

2017-09-01

To assess the usefulness of MR defecography in evaluating pelvic floor dysfunction, and to correlate several pelvic organ abnormalities with each other and with patients' symptoms and characteristics. MR defecographic examinations performed in 3T MRI machine of 95 patients (70 females, 25 males; mean age 48) were retrospectively reviewed. Pelvic organ abnormalities from all three compartments were recorded, including the anorectal junction descent, anterior rectocele, and cystocele. These were graded according to the known HMO system in relation to the pubococcygeal line. The correlation between these different abnormalities and their relation to patient symptoms and characteristics were evaluated. Anorectal junction descent and anterior rectocele were most commonly observed, predominantly manifesting in female patients. Both were associated with abnormalities from all compartments. The middle compartment was the least affected, and its abnormality of uterine/vaginal descent tended to occur in association with the anterior compartment abnormality (cystocele). Anismus was low in incidence, and was not associated with other compartments abnormalities. Both enterocele/peritoneocele and intussusception were uncommon. MR defecography is the modality of choice in assessing pelvic floor dysfunction, because it can neatly show various pelvic organ abnormalities from all compartments in a dynamic fashion, which are frequently coexistent. It can even show clinically silent or unsuspected abnormalities which can impact the management of patients.

Abnormalities in larvae from the once-largest Pacific herring population in Washington State result primarily from factors independent of spawning location

USGS Publications Warehouse

Hershberger, P.K.; Elder, N.E.; Wittouck, J.; Stick, K.; Kocan, R.M.

2005-01-01

Among larvae from populations of Pacific herring Clupea pallasii in Washington State those from Cherry Point have consistently demonstrated abnormalities indicative of distress, including low weights and lengths at hatch, increased prevalences of skeletal abnormalities, and shorter survival times in food deprivation studies. The biomass of adult, prespawn Pacific herring at Cherry Point declined from 13,606 metric tons in 1973 to a record low 733 metric tons in 2000. However, correlation of larval abnormalities with adult recruitment was weak, indicating that the larval abnormalities did not directly cause the decline. Larval abnormalities originated primarily from factors independent of conditions at the spawning location because they were not reproduced by incubation of foreign zygotes along the Cherry Point shoreline but were reproduced after the development of indigenous zygotes in controlled laboratory conditions. Although the precise cause of the abnormalities was not determined, recent zoographic trends in elevated natural mortality among adult Pacific herring and resulting reduced age structures may be involved. ?? Copyright by the American Fisheries Society 2005.

Biochemical abnormalities in neonatal seizures.

PubMed

Sood, Arvind; Grover, Neelam; Sharma, Roshan

2003-03-01

The presence of seizure does not constitute a diagnoses but it is a symptom of an underlying central nervous system disorder due to systemic or biochemical disturbances. Biochemical disturbances occur frequently in the neonatal seizures either as an underlying cause or as an associated abnormality. In their presence, it is difficult to control seizure and there is a risk of further brain damage. Early recognition and treatment of biochemical disturbances is essential for optimal management and satisfactory long term outcome. The present study was conducted in the department of pediatrics in IGMC Shimla on 59 neonates. Biochemical abnormalities were detected in 29 (49.15%) of cases. Primary metabolic abnormalities occurred in 10(16.94%) cases of neonatal seizures, most common being hypocalcaemia followed by hypoglycemia, other metabolic abnormalities include hypomagnesaemia and hyponateremia. Biochemical abnormalities were seen in 19(38.77%) cases of non metabolic seizure in neonates. Associated metabolic abnormalities were observed more often with Hypoxic-ischemic-encephalopathy (11 out of 19) cases and hypoglycemia was most common in this group. No infant had hyponateremia, hyperkelemia or low zinc level.

Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

PubMed

Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

2013-08-01

Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

A forty-three year museum study of northern cricket frog (Acris crepitans) abnormalities in Arkansas: upward trends and distributions.

PubMed

McCallum, Malcolm L; Trauth, Stanley E

2003-07-01

The northern cricket frog (Acris crepitans) is a resident of streams, rivers, and wetlands of eastern North America. We documented abnormalities in A. crepitans housed in the Arkansas State University Museum of Zoology Herpetology Collection. Abnormality frequency increased from 1957 to 2000 (chi 2 = 43.76, df = 3, P < 0.001). From 1957 through 1979 only 3.33% of specimens were unusual. This rate was 6.87% during the 1990s, and in 2000 it was 8.48%. High frequencies of abnormalities were identified in the following Ozark highland counties: Sharp, Lawrence, and Randolph. We observed 104 abnormalities among 1,464 frogs (7.10%). The differential abnormality frequencies observed between the Arkansas lowlands and highlands are striking. The Ozarks had significantly higher frequencies of abnormalities than other Arkansas regions (chi 2 = 59.76, df = 4, P < 0.001). The Ouachita Mountains had significantly higher frequencies than the Gulf Coastal Plain, Delta, or Arkansas River Valley (chi 2 = 13.172, df = 3, P < 0.01). There was no difference in abnormality frequency between the Gulf Coastal Plain, Delta, and Arkansas River Valley (chi 2 = 0.422, df = 2, P > 0.70). Proposed hypotheses for distributions include: 1) A. crepitans might possess naturally high abnormality levels, and land use practices of the Delta may reduce this variability; 2) an unknown xenobiotic may be in Ozark streams causing increased numbers of abnormalities; 3) the museum's collection effort may be skewed; 4) Delta habitat might be more favorable for green tree frogs (Hyla cinerea) allowing this species to drive out A. crepitans through competition; here, abnormal metamorphs are not detected because they are even less competitive than normal individuals.

Evaluation of Esophageal Motility Utilizing the Functional Lumen Imaging Probe.

PubMed

Carlson, Dustin A; Kahrilas, Peter J; Lin, Zhiyue; Hirano, Ikuo; Gonsalves, Nirmala; Listernick, Zoe; Ritter, Katherine; Tye, Michael; Ponds, Fraukje A; Wong, Ian; Pandolfino, John E

2016-12-01

Esophagogastric junction (EGJ) distensibility and distension-mediated peristalsis can be assessed with the functional lumen imaging probe (FLIP) during a sedated upper endoscopy. We aimed to describe esophageal motility assessment using FLIP topography in patients presenting with dysphagia. In all, 145 patients (aged 18-85 years, 54% female) with dysphagia that completed upper endoscopy with a 16-cm FLIP assembly and high-resolution manometry (HRM) were included. HRM was analyzed according to the Chicago Classification of esophageal motility disorders; major esophageal motility disorders were considered "abnormal". FLIP studies were analyzed using a customized program to calculate the EGJ-distensibility index (DI) and generate FLIP topography plots to identify esophageal contractility patterns. FLIP topography was considered "abnormal" if EGJ-DI was <2.8 mm 2 /mm Hg or contractility pattern demonstrated absent contractility or repetitive, retrograde contractions. HRM was abnormal in 111 (77%) patients: 70 achalasia (19 type I, 39 type II, and 12 type III), 38 EGJ outflow obstruction, and three jackhammer esophagus. FLIP topography was abnormal in 106 (95%) of these patients, including all 70 achalasia patients. HRM was "normal" in 34 (23%) patients: five ineffective esophageal motility and 29 normal motility. In all, 17 (50%) had abnormal FLIP topography including 13 (37%) with abnormal EGJ-DI. FLIP topography provides a well-tolerated method for esophageal motility assessment (especially to identify achalasia) at the time of upper endoscopy. FLIP topography findings that are discordant with HRM may indicate otherwise undetected abnormalities of esophageal function, thus FLIP provides an alternative and complementary method to HRM for evaluation of non-obstructive dysphagia.

Etiology and pathogenesis of anxiety disorders.

PubMed

Sher, L

2001-07-01

The author suggests that biological abnormalities related to the development of anxiety disorders can be classified as real or relative. Individuals with 'real abnormalities' are not able to function under any circumstances, including the circumstances that are natural for humans. Persons with 'relative abnormalities' can function under the natural circumstances, but are not able to function in situations that are unnatural for humans. Unnatural situations include being in elevators, flying airplanes, driving cars, etc. The author suggests that all humans can be classified into four groups: 1. Individuals with excellent 'adaptational reserve' never develop anxiety disorders; 2. Individuals with good adaptational reserve develop anxiety disorders only if they are subjected to extremely stressful, unusual situations (e.g. being a hostage); 3. Individuals with moderate adaptational reserve develop anxiety disorders if they are exposed to unnatural situations. They have 'relative abnormalities'; 4. Individuals with poor adaptational reserve develop anxiety disorders in situations that are natural for humans. They have 'real abnormalities'. Copyright 2001 Harcourt Publishers Ltd.

Improving Informed Consent for Cleft Palate Repair

ClinicalTrials.gov

2017-03-07

Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

Urinary Imaging Findings in Young Infants With Bacteremic Urinary Tract Infection.

PubMed

Chang, Pearl W; Abidari, Jennifer M; Shen, Mark W; Greenhow, Tara L; Bendel-Stenzel, Michael; Roman, Heidi K; Biondi, Eric A; Schroeder, Alan R

2016-11-01

To describe renal ultrasound (RUS) and voiding cystourethrogram (VCUG) findings and determine predictors of abnormal imaging in young infants with bacteremic urinary tract infection (UTI). We used retrospective data from a multicenter sample of infants younger than 3 months with bacteremic UTI, defined as the same pathogenic organism in blood and urine. Infants were excluded if they had any major comorbidities, known urologic abnormalities at time of presentation, required intensive unit care, or had no imaging performed. Imaging results as stated in the radiology reports were categorized by a pediatric urologist. Of the 276 infants, 19 were excluded. Of the remaining 257 infants, 254 underwent a RUS and 224 underwent a VCUG. Fifty-five percent had ≥1 RUS abnormalities. Thirty-four percent had ≥1 VCUG abnormalities, including vesicoureteral reflux (VUR, 27%), duplication (1.3%), and infravesicular abnormality (0.9%). Age <1 month, male sex, and non-Escherichia coli organism predicted an abnormal RUS, but only non-E coli organism predicted an abnormal VCUG. Seventeen of 96 infants (17.7%) with a normal RUS had an abnormal VCUG: 15 with VUR (Grade I-III = 13, Grade IV = 2), 2 with elevated postvoid residual, and 1 with infravesical abnormality. Although RUS and VCUG abnormalities were common in this cohort, the frequency and severity were similar to previous studies of infants with UTIs in general. Our findings do not support special consideration of bacteremia in imaging decisions for otherwise well-appearing young infants with UTI. Copyright © 2016 by the American Academy of Pediatrics.

The value of ultrasound and magnetic resonance imaging in diagnostics and prediction of morbidity in cases of placenta previa with abnormal placentation.

PubMed

Algebally, Ahmed M; Yousef, Reda Ramadan Hussein; Badr, Sanaa Sayed Hussein; Al Obeidly, Amal; Szmigielski, Wojciech; Al Ibrahim, Abdullah A

2014-01-01

The purpose of the study was to evaluate the role of ultrasound (US) and magnetic resonance imaging (MRI) in the diagnostics and management of abnormal placentation in women with placenta previa and to compare the morbidity associated with that to placenta previa alone. The study includes 100 pregnant women with placenta previa with and without abnormal placentation. The results of MRI and US in abnormal placentation were compared with post-operative data. The patients' files were reviewed for assessment of operative and post-operative morbidity. The results of our statistical analysis were compared with data from the literature. US and MRI showed no significant difference in sensitivity and specificity in diagnosing abnormal placentation (97-100% and 94-100%, respectively). MRI was more sensitive than US for the detection of myometrial invasion and the type of abnormal placentation (73.5% and 47%, respectively). The difference between pre- and post-operative hemoglobin values and estimated blood loss were the most significant risk factors for abnormal placentation, added to risk factors known for placenta previa. Post-partum surgical complications and prolonged hospital stay were more common in the cases of placenta previa with abnormal placentation, however statistically insignificant. US and MRI are accurate imaging modalities for diagnosing abnormal placentation. MRI was more sensitive for the detection of the degree of placental invasion. The patient's morbidity increased in cases with abnormal placentation. There was no significant difference in post operative-complications and hospitalization time due to pre-operative planning when the diagnosis was established with US and MRI.

Numerically abnormal chromosome constitutions in humans

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

NONE

1993-12-31

Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

Metabolic factors associated with urinary calculi in children.

PubMed

Naseri, Mitra; Varasteh, Abdol Reza; Alamdaran, Seied Ali

2010-01-01

We aimed to identify metabolic and anatomical abnormalities present in children with urinary calculi. Metabolic evaluation was done in 142 pediatric calculus formers. Evaluation included serum biochemistry; measurement of daily excretion of urinary calcium, uric acid, oxalate, citrate, and magnesium (in older children); and measurement of calcium, uric acid, oxalate, and creatinine in random urine samples in nontoilet-trained patients. Urinary tests for cystinuria were also performed. All of the patients underwent renal ultrasonography. Sixty-one patients (42.7%) had metabolic abnormalities. Anatomical abnormalities were found in 12 patients (8.4%). Three children (2.1%) had infectious calculi, and 3(2.1%) had a combination of metabolic and anatomic abnormalities. In 66 children (46.2 %) we did not find any reasons for calculus formation (idiopathic). Urinalysis revealed hypercalciuria in 25 (17.6%), hyperuricosuria in 23 (16.1%), hyperoxaluria in 17 (11.9%), cystinuria in 9 (6.3%), hypocitraturia in 3 (2.1%), and low urinary magnesium level in 1 (0.7%) patients. Sixteen patients (11.2%) had mixed metabolic abnormalities. Metabolic abnormalities are common in pediatric patients with urinary calculi. In our study, calcium and uric acid abnormalities were the most common, and vesicoureteral reflux seemed to be the most common urological abnormality which led to urinary stasis and calculus formation.

Chorionic villus sampling for abnormal screening compared to historical indications: prevalence of abnormal karyotypes.

PubMed

Marshall, Nicole E; Fraley, Gwen; Feist, Cori; Burns, Michael J; Pereira, Leonardo

2012-08-01

To determine the prevalence of abnormal karyotype results in women undergoing chorionic villus sampling (CVS) for abnormal first trimester screening compared to CVS for historical indications (advanced maternal age (AMA) or prior aneuploidy). Retrospective cohort of all patients undergoing CVS at Oregon Health & Science University from January 2006 to June 2010. Patients were separated based on CVS indication: (1) positive ultrasound (U/S) or serum screening; or (2) AMA or prior aneuploidy with normal or no screening. Prevalence of abnormal karyotype results were compared between groups. Fetal karyotyping was successful in 500 of 506 CVS procedures performed. 203 CVS were performed for positive screening with 69 abnormal karyotypes (34.0%). 264 CVS were performed for historical indications with 11 abnormal karyotypes (4.2%). This difference was statistically significant (χ(2) 71.9, p < 0.001; OR 11.8 [95% CI 5.8, 24.6]). There were two age-related aneuplodies in AMA women without positive screening. 42 out of 44 AMA women diagnosed with aneuploidy (95.5%) had abnormal U/S and/or serum screening (35 U/S, 4 serum, 3 U/S and serum). Combined ultrasound and serum screening should be recommended to all women, including AMA women, prior to undergoing invasive testing to improve risk-based counseling and minimize morbidity.

Magnetic resonance imaging findings in pediatric bilateral vocal fold dysfunction.

PubMed

Steiner, Joel I; Fink, A Michelle; Berkowitz, Robert G

2013-07-01

We studied the findings of brain magnetic resonance imaging (MRI) in infants with idiopathic congenital bilateral vocal fold dysfunction (CBVFD). We performed a retrospective investigation of a case series. We identified 26 children (14 male, 12 female) over 11 years. Three children were excluded. Thirteen patients required airway interventions, including continuous positive airway pressure (4 patients), endotracheal intubation (1), and tracheostomy (8). The findings on brain MRI were abnormal in 8 patients (35%). Tracheostomy was required in 3 patients (38%) with abnormal MRI findings, as compared with 5 of 15 patients (33%) with normal MRI findings. The MRI abnormalities involved evidence of white matter injury (2), abnormal white matter signal (1), subdural blood (3), cerebral swelling (1), and perisylvian polymicrogyria (1). The cranial ultrasound findings were abnormal in 4 of 11 patients. The MRI findings were abnormal in 2 of 7 children in whom the cranial ultrasound findings were normal, and in 2 of the 4 patients in whom the cranial ultrasound findings were abnormal. The MRI abnormalities were nonspecific; however, they may indicate unrecognized perinatal intracranial injury as being related to CBVFD. In addition, MRI may reveal an underlying structural brain anomaly. Cranial ultrasound has poor sensitivity and specificity. Hence, MRI should be considered as part of the routine assessment of neonates with CBVFD.

Electrocardiogram

MedlinePlus

... history of heart disease in the family Normal Results Normal test results include: Heart rate: 60 to ... minute Heart rhythm: Consistent and even What Abnormal Results Mean Abnormal ECG results may be a sign ...

Anoscopy

MedlinePlus

... What Abnormal Results Mean Abnormal results may include: Abscess Fissures Foreign object in the anus Hemorrhoids Infection ... Wechter, MD, FACS, general surgery practice specializing in breast cancer, Virginia Mason Medical Center, Seattle, WA. Also ...

Comparison of post-contrast 3D-T1-MPRAGE, 3D-T1-SPACE and 3D-T2-FLAIR MR images in evaluation of meningeal abnormalities at 3-T MRI.

PubMed

Jeevanandham, Balaji; Kalyanpur, Tejas; Gupta, Prashant; Cherian, Mathew

2017-06-01

This study was to assess the usefulness of newer three-dimensional (3D)-T 1 sampling perfection with application optimized contrast using different flip-angle evolutions (SPACE) and 3D-T 2 fluid-attenuated inversion recovery (FLAIR) sequences in evaluation of meningeal abnormalities. 78 patients who presented with high suspicion of meningeal abnormalities were evaluated using post-contrast 3D-T 2 -FLAIR, 3D-T 1 magnetization-prepared rapid gradient-echo (MPRAGE) and 3D-T 1 -SPACE sequences. The images were evaluated independently by two radiologists for cortical gyral, sulcal space, basal cisterns and dural enhancement. The diagnoses were confirmed by further investigations including histopathology. Post-contrast 3D-T 1 -SPACE and 3D-T 2 -FLAIR images yielded significantly more information than MPRAGE images (p < 0.05 for both SPACE and FLAIR images) in detection of meningeal abnormalities. SPACE images best demonstrated abnormalities in dural and sulcal spaces, whereas FLAIR was useful for basal cisterns enhancement. Both SPACE and FLAIR performed equally well in detection of gyral enhancement. In all 10 patients, where both SPACE and T 2 -FLAIR images failed to demonstrate any abnormality, further analysis was also negative. The 3D-T 1 -SPACE sequence best demonstrated abnormalities in dural and sulcal spaces, whereas FLAIR was useful for abnormalities in basal cisterns. Both SPACE and FLAIR performed holds good for detection of gyral enhancement. Post-contrast SPACE and FLAIR sequences are superior to the MPRAGE sequence for evaluation of meningeal abnormalities and when used in combination have the maximum sensitivity for leptomeningeal abnormalities. The negative-predictive value is nearly 100%, where no leptomeningeal abnormality was detected on these sequences. Advances in knowledge: Post-contrast 3D-T 1 -SPACE and 3D-T 2 -FLAIR images are more useful than 3D-T 1 -MPRAGE images in evaluation of meningeal abnormalities.

Golf and racquet sports injuries.

PubMed

Jacobson, Jon A; Miller, Bruce S; Morag, Yoav

2005-12-01

There are specific injuries that are common in golf and racquet sports. These abnormalities have a predilection for specific structures as well and can be divided into two categories on the basis of etiology as either chronic repetitive injury or acute trauma. With golf injuries, upper extremity abnormalities prevail and include rotator cuff disease, epicondylitis, wrist tenosynovitis, and hamate hook fracture. Thoracolumbar spine pain can also occur. The order of frequency of these ailments is different for professional and recreational athletes. With racquet injuries, as in tennis, lower extremity injuries are more common and include medial gastrocnemius and Achilles tendon abnormalities, although shoulder, elbow, and wrist abnormalities may also occur. Knowledge of the biomechanics behind each sport is also helpful in understanding the pathophysiology of injury and in part explains the findings seen at imaging.

Retinal abnormalities in β-thalassemia major

PubMed Central

Bhoiwala, Devang L.; Dunaief, Joshua L.

2015-01-01

Patients with beta (β)-thalassemia (β-TM: thalassemia major, β-TI: thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelium degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-TM are transfusion dependent and require iron chelation therapy (ICT) in order to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by ICT. Some who were never treated with ICT exhibited retinopathy, and others receiving ICT had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-TM viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity. PMID:26325202

Methods and systems for detecting abnormal digital traffic

DOEpatents

Goranson, Craig A [Kennewick, WA; Burnette, John R [Kennewick, WA

2011-03-22

Aspects of the present invention encompass methods and systems for detecting abnormal digital traffic by assigning characterizations of network behaviors according to knowledge nodes and calculating a confidence value based on the characterizations from at least one knowledge node and on weighting factors associated with the knowledge nodes. The knowledge nodes include a characterization model based on prior network information. At least one of the knowledge nodes should not be based on fixed thresholds or signatures. The confidence value includes a quantification of the degree of confidence that the network behaviors constitute abnormal network traffic.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

PubMed Central

Alby, Caroline; Piquand, Kevin; Huber, Céline; Megarbané, André; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechté; Abi-Tayeh, Georges; Bessières, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, László; Zombor, Melinda; Szabó, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Françoise; Munnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Saunier, Sophie; Cormier-Daire, Valérie; Attié-Bitach, Tania; Thomas, Sophie

2015-01-01

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed unaffected in mutant cells, we observed an abnormal extended pattern of CEP290, a centriolar satellite protein previously associated with ciliopathies. Our data show the crucial role of KIAA0586 in human primary ciliogenesis and subsequent abnormal hedgehog signaling through abnormal GLI3 processing. Our results thus establish that KIAA0586 mutations cause lethal ciliopathies. PMID:26166481

Radiographic Abnormalities in the Feet of Diabetic Patients with Neuropathy and Foot Ulceration.

PubMed

Viswanathan, Vijay; Kumpatla, Satyavani; Rao, V Narayan

2014-11-01

People with diabetic neuropathy are frequently prone to several bone and joint abnormalities. Simple radiographic findings have been proven to be quite useful in the detection of such abnormalities, which might be helpful not only for early diagnosis but also in following the course of diabetes through stages of reconstruction of the ulcerated foot.The present study was designed to identify the common foot abnormalities in south Indian diabetic subjects with and without neuropathy using radiographic imaging. About 150 (M:F 94:56) subjects with type 2 diabetes were categorised into three groups: Group I (50 diabetic patients), Group II (50 patients with neuropathy), and Group III (50 diabetic patients with both neuropathy and foot ulceration). Demographic details, duration of diabetes and HbA1c values were recorded. Vibration perception threshold was measured for assessment of neuropathy. Bone and joint abnormalities in the feet and legs of the study subjects were identified using standardised dorsi-plantar and lateral weight-bearing radiographs. Radiographic findings of the study subjects revealed that those with both neuropathy and foot ulceration and a longer duration of diabetes had more number of bone and joint abnormalities. Subjects with neuropathy alone also showed presence of several abnormalities, including periosteal reaction, osteopenia, and Charcot changes. The present findings highlight the impact of neuropathy and duration of diabetes on the development of foot abnormalities in subjects with diabetes. Using radiographic imaging can help in early identification of abnormalities and better management of the diabetic foot.

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.

PubMed

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

2018-06-01

Mucopolysaccharidosis (MPS) type III, Sanfilippo Syndrome, is an autosomal recessive lysosomal storage disorder. MPS I and II patients often develop cardiac involvement leading to early mortality, however there are limited data in MPS III. The objective of this study is to describe cardiac abnormalities in a large group of MPS III patients followed in a longitudinal natural history study designed to determine outcome measures for gene transfer trials. A single center study of MPS III patients who were enrolled in the Nationwide Children's Hospital natural history study in 2014. Two cardiologists reviewed all patient echocardiograms for anatomic, valvular, and functional abnormalities. Valve abnormalities were defined as abnormal morphology, trivial mitral regurgitation (MR) with abnormal morphology or at least mild MR, and any aortic regurgitation (AR). Abnormal left ventricular (LV) function was defined as ejection fraction < 50%. Group comparisons were assessed using two-sample t-tests or Wilcoxon rank sum tests for continuous variables and chi-square or Fisher's exact tests for categorical variables. Twenty-five patients, 15 Type A and 10 Type B MPS III, underwent 45 echocardiograms. Fifteen patients (60%) demonstrated an abnormal echocardiographic finding with age at first abnormal echocardiogram within the study being 6.8 ± 2.8 years. Left-sided valve abnormalities were common over time: 7 mitral valve thickening, 2 mitral valve prolapse, 16 MR (8 mild, 8 trivial), 3 aortic valve thickening, and 9 AR (7 mild, 2 trivial). Two patients had asymmetric LV septal hypertrophy. No valvular stenosis or ventricular function abnormalities were noted. Incidental findings included: mild aortic root dilation (2), bicommissural aortic valve (1), and mild tricuspid regurgitation (3). Individuals with Sanfilippo A and B demonstrate a natural history of cardiac involvement with valvular abnormalities most common. In short-term follow up, patients demonstrated only mild progression of abnormalities, none requiring intervention. Valvular disease prevalence is similar to MPS I and II, but appears less severe. These findings raise no specific concerns for gene transfer trials in patients in this age range. Copyright © 2018 Elsevier Inc. All rights reserved.

Progression of ultrasound findings of fetal syphilis after maternal treatment.

PubMed

Rac, Martha W F; Bryant, Stefanie N; McIntire, Donald D; Cantey, Joseph B; Twickler, Diane M; Wendel, George D; Sheffield, Jeanne S

2014-10-01

The purpose of this study was to evaluate ultrasound findings of fetal syphilis and to describe their progression after maternal treatment. This was a retrospective cohort study from September 1981 to June 2011 of seropositive women after 18 weeks of gestation who had an ultrasound before treatment to evaluate for fetal syphilis. Only those women who received treatment after the initial ultrasound scan, but before delivery, were included. If the initial ultrasound scan was abnormal, serial sonography was performed until resolution of the abnormality or delivery. Patient demographics, ultrasound findings, stage of syphilis, delivery, and infant outcomes were recorded. Standard statistical analyses were performed. Kaplan-Meier estimates were constructed to estimate time to resolution. Two hundred thirty-five women met the inclusion criteria; 73 of them (30%) had evidence of fetal syphilis on initial ultrasound scan. Abnormalities included hepatomegaly (79%), placentomegaly (27%), polyhydramnios (12%), ascites (10%) and abnormal middle cerebral arterial Doppler assessment (33%). After treatment, middle cerebral arterial Doppler assessment abnormalities, ascites, and polyhydramnios resolved first, followed by placentomegaly and finally hepatomegaly. Infant outcomes were available for 173 deliveries; of these, 32 infants (18%) were diagnosed with congenital syphilis. Congenital syphilis was more common when antenatal ultrasound abnormalities were present (39% vs 12%; P < .001). Infant examination findings at delivery were similar between women with and without an abnormal pretreatment ultrasound scan. However, in those infants with congenital syphilis, hepatomegaly was the most frequent abnormality found, regardless of antenatal ultrasound findings. Sonographic signs of fetal syphilis confer a higher risk of congenital syphilis at delivery for all maternal stages. Hepatomegaly develops early and resolves last after antepartum treatment. Copyright © 2014 Elsevier Inc. All rights reserved.

New MR imaging assessment tool to define brain abnormalities in very preterm infants at term.

PubMed

Kidokoro, H; Neil, J J; Inder, T E

2013-01-01

WM injury is the dominant form of injury in preterm infants. However, other cerebral structures, including the deep gray matter and the cerebellum, can also be affected by injury and/or impaired growth. Current MR imaging injury assessment scales are subjective and are challenging to apply. Thus, we developed a new assessment tool and applied it to MR imaging studies obtained from very preterm infants at term age. MR imaging scans from 97 very preterm infants (< 30 weeks' gestation) and 22 healthy term-born infants were evaluated retrospectively. The severity of brain injury (defined by signal abnormalities) and impaired brain growth (defined with biometrics) was scored in the WM, cortical gray matter, deep gray matter, and cerebellum. Perinatal variables for clinical risks were collected. In very preterm infants, brain injury was observed in the WM (n=23), deep GM (n=5), and cerebellum (n=23). Combining measures of injury and impaired growth showed moderate to severe abnormalities most commonly in the WM (n=38) and cerebellum (n=32) but still notable in the cortical gray matter (n=16) and deep gray matter (n=11). WM signal abnormalities were associated with a reduced deep gray matter area but not with cerebellar abnormality. Intraventricular and/or parenchymal hemorrhage was associated with cerebellar signal abnormality and volume reduction. Multiple clinical risk factors, including prolonged intubation, prolonged parenteral nutrition, postnatal corticosteroid use, and postnatal sepsis, were associated with increased global abnormality on MR imaging. Very preterm infants demonstrate a high prevalence of injury and growth impairment in both the WM and gray matter. This MR imaging scoring system provides a more comprehensive and objective classification of the nature and extent of abnormalities than existing measures.

Sweat electrolytes test

MedlinePlus

... test is used to confirm these results. Normal Results Normal results include: A sweat chloride test result ... edema) can affect the test results. What Abnormal Results Mean An abnormal test may mean that the ...

Neonatal White Matter Abnormalities an Important Predictor of Neurocognitive Outcome for Very Preterm Children

PubMed Central

Woodward, Lianne J.; Clark, Caron A. C.; Bora, Samudragupta; Inder, Terrie E.

2012-01-01

Background Cerebral white matter abnormalities on term MRI are a strong predictor of motor disability in children born very preterm. However, their contribution to cognitive impairment is less certain. Objective Examine relationships between the presence and severity of cerebral white matter abnormalities on neonatal MRI and a range of neurocognitive outcomes assessed at ages 4 and 6 years. Design/Methods The study sample consisted of a regionally representative cohort of 104 very preterm (≤32 weeks gestation) infants born from 1998–2000 and a comparison group of 107 full-term infants. At term equivalent, all preterm infants underwent a structural MRI scan that was analyzed qualitatively for the presence and severity of cerebral white matter abnormalities, including cysts, signal abnormalities, loss of white matter volume, ventriculomegaly, and corpus callosal thinning/myelination. At corrected ages 4 and 6 years, all children underwent a comprehensive neurodevelopmental assessment that included measures of general intellectual ability, language development, and executive functioning. Results At 4 and 6 years, very preterm children without cerebral white matter abnormalities showed no apparent neurocognitive impairments relative to their full-term peers on any of the domain specific measures of intelligence, language, and executive functioning. In contrast, children born very preterm with mild and moderate-to-severe white matter abnormalities were characterized by performance impairments across all measures and time points, with more severe cerebral abnormalities being associated with increased risks of cognitive impairment. These associations persisted after adjustment for gender, neonatal medical risk factors, and family social risk. Conclusions Findings highlight the importance of cerebral white matter connectivity for later intact cognitive functioning amongst children born very preterm. Preterm born children without cerebral white matter abnormalities on their term MRI appear to be spared many of the cognitive impairments commonly associated with preterm birth. Further follow-up will be important to assess whether this finding persists into the school years. PMID:23284800

Cumulative impact of axial, structural, and repolarization ECG findings on long-term cardiovascular mortality among healthy individuals in Japan: National Integrated Project for Prospective Observation of Non-Communicable Disease and its Trends in the Aged, 1980 and 1990.

PubMed

Inohara, Taku; Kohsaka, Shun; Okamura, Tomonori; Watanabe, Makoto; Nakamura, Yasuyuki; Higashiyama, Aya; Kadota, Aya; Okuda, Nagako; Murakami, Yoshitaka; Ohkubo, Takayoshi; Miura, Katsuyuki; Okayama, Akira; Ueshima, Hirotsugu

2014-12-01

Various cohort studies have shown a close association between long-term cardiovascular disease (CVD) outcomes and individual electrocardiographic (ECG) abnormalities such as axial, structural, and repolarization changes. The combined effect of these ECG abnormalities, each assumed to be benign, has not been thoroughly investigated. Community-dwelling Japanese residents from the National Integrated Project for Perspective Observation of Non-Communicable Disease and its Trends in the Aged, 1980-2004 and 1990-2005 (NIPPON DATA80 and 90), were included in this study. Baseline ECG findings were classified using the Minnesota Code and categorized into axial (left axis deviation, clockwise rotation), structural (left ventricular hypertrophy, atrial enlargement), and repolarization (minor and major ST-T changes) abnormalities. The hazard ratios of the cumulative impacts of ECG findings on long-term CVD death were estimated by stratified Cox proportional hazard models, including adjustments for cohort strata. In all, 16,816 participants were evaluated. The average age was 51.2 ± 13.5 years; 42.7% participants were male. The duration of follow up was 300,924 person-years (mean 17.9 ± 5.8 years); there were 1218 CVD deaths during that time. Overall, 4203 participants (25.0%) had one or more categorical ECG abnormalities: 3648 (21.7%) had a single abnormality, and 555 (3.3%) had two or more. The risk of CVD mortality increased as the number of abnormalities accumulated (single abnormality HR 1.29, 95% CI 1.13-1.48; ≥2 abnormalities HR 2.10, 95% CI 1.73-2.53). Individual ECG abnormalities had an additive effect in predicting CVD outcome risk in our large-scale cohort study. © The European Society of Cardiology 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Preoperative Status and Risk of Complications in Patients with Hip Fracture

PubMed Central

McLaughlin, Mary Ann; Orosz, Gretchen M; Magaziner, Jay; Hannan, Edward L; McGinn, Thomas; Morrison, R Sean; Hochman, Tsivia; Koval, Kenneth; Gilbert, Marvin; Siu, Albert L

2006-01-01

BACKGROUND Limited information is available on preoperative status and risks for complications for older patients having surgery for hip fracture. Our objective was to identify potentially modifiable clinical findings that should be considered in decisions about the timing of surgery. METHODS We conducted a prospective cohort study with data obtained from medical records and through structured interviews with patients. A total of 571 adults with hip fracture who were admitted to 4 metropolitan hospitals were included. RESULTS Multiple logistic regression was used to identify risk factors (including 11 categories of physical and laboratory findings, classified as mild and severe abnormalities) for in-hospital complications. The presence of more than 1 (odds ratiol [OR] 9.7, 95% confidence interval [CI] 2.8 to 33.0) major abnormality before surgery or the presence of major abnormalities on admission that were not corrected prior to surgery (OR 2.8, 95% CI 1.2 to 6.4) was independently associated with the development of postoperative complications. We also found that minor abnormalities, while warranting correction, did not increase risk (OR 0.70, 95% CI 0.28 to 1.73). CONCLUSIONS In this study of older adults undergoing urgent surgery, potentially reversible abnormalities in laboratory and physical examination occurred frequently and significantly increased the risk of postoperative complications. Major clinical abnormalities should be corrected prior to surgery, but patients with minor abnormalities may proceed to surgery with attention to these medical problems perioperatively. PMID:16390507

[Association of folate metabolism genes MTRR and MTHFR with complex congenital abnormalities among Chinese population in Shanxi Province, China].

PubMed

Zhang, Qin; Bai, Bao-Ling; Liu, Xiao-Zhen; Miao, Chun-Yue; Li, Hui-Li

2014-08-01

To explore the association of polymorphisms in folate metabolism genes, methionine synthase reductase (MTRR) gene and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with complex congenital abnormalities and to further investigate its association with complex congenital abnormalities derived from three germ layers. A total of 250 cases of birth defects (with complex congenital abnormalities including congenital heart disease, neural tube defects, and craniofacial anomalies) in Shanxi Province, China were included in the study. MTRR single nucleotide polymorphism (SNP) (rs1801394) and MTHFR SNP (rs1801133) were genotyped by the SNaPshot method, and the genotyping results were compared with those of controls (n=420). SNPs rs1801394 and rs1801133 were associated with multiple birth defects. For the recessive model, individuals with GG genotype at rs1801394 and CC genotype at rs1801133 had a relatively low risk of developing birth defects, so the two genotypes were protective factors against birth defects. The homozygous recessive genotype at rs1801133, which served as a protective factor, was associated with ectoderm- or endoderm-derived complex congenital abnormalities, while the homozygous recessive genotype at rs1801394, which served as a protective factor, was associated with ectoderm-, mesoderm- or endoderm-derived complex congenital abnormalities. Among the Chinese population in Shanxi Province, the SNPs in folate metabolism genes (MTRR and MTHFR) are associated with complex congenital abnormalities and related to ectoderm, mesoderm or endoderm development.

[Impact of indirect factors on the growing prevalence of workers with abnormal findings in periodic general health examinations: a survey on the definition and detection of such abnormal workers by occupational health organizations].

PubMed

Hoshuyama, T; Takahashi, K; Fujishiro, K; Uchida, K; Okubo, T

2000-05-01

The prevalence of workers with abnormal findings in periodic general health examinations (PGHEx) has been growing recently in Japan and reached 41.2% in 1998. To clarify the indirect factors related to such an increase in workers with abnormal findings in the PGHEx, we carried out a questionnaire survey on the content of the statutory notification form of results of the PGHEx among a representative sample of 136 Occupational Health Organizations (OHOs). Questions on how those workers with abnormal findings were defined and detected and when the definition and the reference intervals for total cholesterol became available were included. Of the 107 OHOs which answered the questionnaire, 85 were included in the analyses because they actually calculated the number of workers with abnormal findings in each company and helped the employer fill out the notification form. The results revealed that there was no standardized definition of workers with abnormal findings in the PGHEx. Both reference intervals of items in the PGHEx and algorithm in detecting workers with abnormal findings in the PGHEx varied among the OHOs. When detecting the workers, 13 OHOs (15.3%) selected them taking into consideration medical background factors such as previous results of the PGHEx and current medical treatment. From the late 1980s to the early 1990s, many OHOs modified the definition of workers with abnormal findings, and have tended to reduce the upper limit of the reference interval for serum cholesterol. This is mainly due to amendment of the Industrial Safety and Health Law and a new recommendation for a reference interval/value proposed by the related scientific society. Although the prevalence of workers with abnormal findings in the PGHEx has continuously increased, it is not valid to compare the prevalence over the years because of modification in the definition of such workers. The prevalence of workers with abnormal findings in the PGHEx, which is one of the most important indices of the state of occupational health, should be measured by using an objective definition and be compatible with the future system of health examination for Japanese workers.

Genetics Home Reference: mucopolysaccharidosis type IV

MedlinePlus

... individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, ... links) Encyclopedia: Cloudy cornea Encyclopedia: Hypermobile joints Encyclopedia: Knock ... Morquio syndrome Encyclopedia: Mucopolysaccharides Health Topic: ...

The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics

ERIC Educational Resources Information Center

Beaudet, Arthur L.

2013-01-01

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism…

Mechanisms of Mitochondrial Defects in Gulf War Syndrome

DTIC Science & Technology

2011-08-01

complaining of exercise limitations due to fatigue . An abnormal maximum oxygen uptake (VO2 max) and anaerobic threshold (AT) significantly increases...syndromes, muscle complaints that include fatigue and myalgias, as well as other neurological symptoms. Approximately 100,000 individuals have...pyruvate (> 0.90 mg/dl) (14/57) Abnormal Anaerobic Threshold (≤50% predicted VO2 max) 78.4% (40/51) Abnormal Alanine (>563 µmol/L) 10.2% (6

Equine protozoal myeloencephalitis due to Neospora hughesi and equine motor neuron disease in a mule.

PubMed

Finno, Carrie J; Eaton, Joshua Seth; Aleman, Monica; Hollingsworth, Steven R

2010-07-01

A 23-year-old female mule was presented for bilateral ocular abnormalities and an abnormal pelvic limb gait. Anisocoria, unilateral enophthalmos, medial strabismus, ptosis, pupillary light reflex deficits, and bilateral reticulated pigmentary retinopathy were observed on ophthalmic examination. Neurologic abnormalities included right-sided facial nerve paralysis, extensive symmetric muscle atrophy, and asymmetric pelvic limb ataxia with an abnormal pelvic limb gait. A positive titer (1:40) for equine protozoal myeloencephalitis (EPM) associated with Neospora hughesi was obtained from cerebrospinal fluid with minimal (<1 red blood cell/microL) blood contamination. Muscle biopsies of the sacrocaudalis dorsalis medialis muscle revealed predominantly type I neurogenic muscle atrophy, consistent with a diagnosis of equine motor neuron disease (EMND). Treatment included a 2-month course of ponazuril (5 mg/kg PO q24 h), vitamin E (8000 IU PO q24 h), and selenium (2 mg PO q24 h). Clinical improvement was not observed after 2 months although the mule remained stable. Clinical deterioration was reported upon discontinuation of the ponazuril after a 2-month course. Concurrent disease with EPM associated with N. hughesi and EMND should be considered in cases demonstrating cranial nerve abnormalities, pronounced symmetric muscle atrophy, unusual asymmetric gait abnormalities, and reticulated pigmentary retinopathy.

Cognitive correlates of gray matter abnormalities in adolescent siblings of patients with childhood-onset schizophrenia

PubMed Central

Wagshal, Dana; Knowlton, Barbara Jean; Cohen, Jessica Rachel; Bookheimer, Susan Yost; Bilder, Robert Martin; Fernandez, Vindia Gisela; Asarnow, Robert Franklin

2015-01-01

Patients with childhood onset schizophrenia (COS) display widespread gray matter (GM) structural brain abnormalities. Healthy siblings of COS patients share some of these structural abnormalities, suggesting that GM abnormalities are endophenotypes for schizophrenia. Another possible endophenotype for schizophrenia that has been relatively unexplored is corticostriatal dysfunction. The corticostriatal system plays an important role in skill learning. Our previous studies have demonstrated corticostriatal dysfunction in COS siblings with a profound skill learning deficit and abnormal pattern of brain activation during skill learning. This study investigated whether structural abnormalities measured using volumetric brain morphometry (VBM) were present in siblings of COS patients and whether these were related to deficits in cognitive skill learning. Results revealed smaller GM volume in COS siblings relative to controls in a number of regions, including occipital, parietal, and subcortical regions including the striatum, and greater GM volume relative to controls in several subcortical regions. Volume in the right superior frontal gyrus and cerebellum were related to performance differences between groups on the weather prediction task, a measure of cognitive skill learning. Our results support the idea that corticostriatal and cerebellar impairment in unaffected siblings of COS patients are behaviorally relevant and may reflect genetic risk for schizophrenia. PMID:25541139

Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.

PubMed

Lei, Ting; Feng, Jie-Ling; Xie, Ying-Jun; Xie, Hong-Ning; Zheng, Ju; Lin, Mei-Fang

2017-11-01

To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosomal aneuploidies, pathogenic CNVs, and variants of unknown significance) were 2/8 (25.0%), 2/7 (28.5%), 8/11 (72.7%), 7/32 (21.9%), and 6/16 (37.5%), respectively. Cases were also classified as isolated PFAs (30/74), PFAs with other central nervous system (CNS) abnormalities (13/74), or PFAs with extra-CNS structural abnormalities (31/74). No fetuses with isolated PFAs or PFAs accompanied by other CNS abnormalities exhibited chromosomal aneuploidies or pathogenic CNVs. The rate of pathogenic chromosomal aberrations in the remaining fetuses was 17/31 (22.9%). The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography. © 2017 John Wiley & Sons, Ltd.

Morphological alterations in the freshwater rotifer Brachionus calyciflorus Pallas 1766 (Rotifera: Monogononta) caused by vinclozolin chronic exposure.

PubMed

Alvarado-Flores, Jesús; Rico-Martínez, Roberto; Adabache-Ortíz, Araceli; Silva-Briano, Marcelo

2015-05-01

Vinclozolin (VZ) is a dicarboximide fungicide widely used on fruits, vegetables and wines, effective against fungi plagues. In this study we characterized the effects of VZ using a 4-day reproductive chronic assay with the freshwater rotifer Brachionus calyciflorus. The assay included observations of several features of asexual and sexual reproduction. Our results indicate that VZ: (a) increased asexual and sexual reproduction, (b) caused severe abnormality in females and (c) these abnormalities were inherited by sexual and asexual reproduction. At 1.2 mg/L three abnormal females were found out of 457 total females (0.66 %). This low percentage is consistent and reproducible according to further analysis, where we increased the number of replicates and total females exposed to 1.2 mg/L of VZ, and found 18 abnormal females out of 2868 total females (0.63 % abnormality). Interestingly, abnormal females found at 5.6 mg/L VZ exposure, were able to show mating behavior. Our results suggest that VZ behaves as a strong endocrine disruptor whose effects show the characteristic inverted-U-shape exposure concentration response curve regarding the intrinsic population increase and the percentage of abnormalities as endpoints.

Ultrastructural findings in noncompaction prevail with neuromuscular disorders.

PubMed

Finsterer, Josef; Stöllberger, Claudia

2013-01-01

Little is known about the ultrastructural abnormalities of left ventricular hypertrabeculation/noncompaction (LVHT). This literature review aimed to summarize and discuss ultrastructural abnormalities described in LVHT so far. The literature search was conducted via MEDLINE using the search terms 'non-compaction', 'noncompaction', 'left ventricular hypertrabeculation', 'spongy myocardium' in combination with the terms 'ultra-structural', or 'electron microscopy'. Altogether, 11 studies reporting ultrastructural investigations of LVHT were retrieved. In these 11 studies, data on 13 patients with LVHT were presented. Ultrastructural abnormalities found in these study patients were generally nonspecific and included an increase in the number of mitochondria (n = 3), abnormally shaped mitochondria (n = 2), distorted cristae (n = 3), sarcomeric derangement (n = 3), immature cardiomyocytes (n = 1), lipid-like inclusions (n = 1), enlarged interstitial spaces (n = 1), increased interstitial collagen (n = 1), or increased glycogen (n = 1). The morphological abnormalities were most prominent in patients with a neuromuscular disorder like Barth syndrome or mitochondrial myopathy. Only in few patients with LVHT, ultrastructural investigations have been performed so far. Ultrastructural abnormalities in LVHT are nonspecific and most prominent in patients with a neuromuscular disorder. There is a strong need to carry out thorough ultrastructural investigations of LVHT to contribute to the understanding of this still unexplained myocardial abnormality.

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

PubMed

Roulot, Dominique; Malan, Valérie; Ziol, Marianne; Linglart, Agnès; Bourcier, Valérie; Beaugrand, Michel; Benzacken, Brigitte

2014-08-01

Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions. The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS. Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients. Systematic karyotype analysis and fluorescence in situ hybridization. X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P < .0001), including a 45,X/46,XX mosaicism in 24 patients and isochromosome of the long arm in three. Liver histological analysis showed architectural changes in 17 patients with nodular regenerative hyperplasia in 12. Biliary lesions were present in 13 patients and liver steatosis in 20. X chromosome abnormalities indicative of cryptic TS are extremely frequent in short-stature women with unexplained elevated liver enzymes. In short-stature women, abnormal liver tests should lead to systematic karyotype analysis.

Diagnostic value of chest ultrasound after cardiac surgery: a comparison with chest X-ray and auscultation.

PubMed

Vezzani, Antonella; Manca, Tullio; Brusasco, Claudia; Santori, Gregorio; Valentino, Massimo; Nicolini, Francesco; Molardi, Alberto; Gherli, Tiziano; Corradi, Francesco

2014-12-01

Chest auscultation and chest x-ray commonly are used to detect postoperative abnormalities and complications in patients admitted to intensive care after cardiac surgery. The aim of the study was to evaluate whether chest ultrasound represents an effective alternative to bedside chest x-ray to identify early postoperative abnormalities. Diagnostic accuracy of chest auscultation and chest ultrasound were compared in identifying individual abnormalities detected by chest x-ray, considered the reference method. Cardiac surgery intensive care unit. One hundred fifty-one consecutive adult patients undergoing cardiac surgery. All patients included were studied by chest auscultation, ultrasound, and x-ray upon admission to intensive care after cardiac surgery. Six lung pathologic changes and endotracheal tube malposition were found. There was a highly significant correlation between abnormalities detected by chest ultrasound and x-ray (k = 0.90), but a poor correlation between chest auscultation and x-ray abnormalities (k = 0.15). Chest auscultation may help identify endotracheal tube misplacement and tension pneumothorax but it may miss most major abnormalities. Chest ultrasound represents a valid alternative to chest x-ray to detect most postoperative abnormalities and misplacements. Copyright © 2014 Elsevier Inc. All rights reserved.

Histopathological Findings of Endometrial Samples and its Correlation Between the Premenopausal and Postmenopausal Women in Abnormal Uterine Bleeding.

PubMed

Sharma, S; Makaju, R; Shrestha, S; Shrestha, A

2014-01-01

Abnormal uterine bleeding is considered as one of the most common problems among women. The therapy is incomplete without knowing the underlying pathology. To determine the types and frequency of endometrial pathologies in patients presenting with abnormal uterine bleeding at Dhulikhel Hospital Kathmandu university Hospital. This is retrospective study total 100 cases were included over a period of one year of Abnormal Uterine bleeding. Out of 100 cases of Abnormal uterine bleeding, 61% were due to non-organic cause with a commonest histopathological findings proliferative endometrium. 27% cases were due to organic cause with pregnancy related condition as most common finding. 12% were reported as inadequate. The rate of postmenopausal bleeding declined with increasing age in the postmenopausal period and endometritis was the predominant finding. There is an age specific association of Abnormal uterine bleeding with increased incidence in perimenopausal age group. Postmenopausal bleeding declined with increasing with endometritis the most common finding. Dilation and curettage is helpful to exclude other organic pathology. It is useful for diagnosis and to know pathological incidence of organic lesions in cases of Abnormal uterine bleeding prior to surgery.

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

Upper esophageal sphincter abnormalities: frequent finding on high-resolution esophageal manometry and associated with poorer treatment response in achalasia.

PubMed

Chavez, Yamile H; Ciarleglio, Maria M; Clarke, John O; Nandwani, Monica; Stein, Ellen; Roland, Bani C

2015-01-01

Abnormalities of the upper esophageal sphincter (UES) on high-resolution esophageal manometry (HREM) have been observed in both symptomatic and asymptomatic individuals and are often interpreted as incidental findings of unclear clinical significance. Our primary aims were: (1) to assess the frequency of UES abnormalities in consecutive patients referred for HREM studies; and (2) to characterize the demographics, clinical symptoms, and manometric profiles associated with UES abnormalities as compared with those with normal UES function. We performed a retrospective study of 200 consecutive patients referred for HREM. Patients were divided into those with normal and abnormal UES function, including impaired relaxation (residual pressure >12 mm Hg), hypertensive (>104 mm Hg), and hypotensive (<34 mm Hg) resting pressure. Clinical and manometric profiles were compared. A total of 32.5% of patients had UES abnormalities, the majority of which were hypertensive (55.4%). Patients with achalasia were significantly more likely to have UES abnormalities as compared with normal UES function (57.2% vs. 42.9%, P=0.04), with the most frequent abnormality being a hypertensive UES (50%). In addition, patients with impaired lower esophageal sphincter (LES) relaxation (esophagogastric junction outflow obstruction or achalasia) were more likely to have an UES abnormality present as compared with those with normal LES relaxation (53.1% vs. 28.6%, P=0.01). When we assessed for treatment response among patients with achalasia, we found that subjects with evidence of UES dysfunction had significantly worse treatment outcomes as compared with those without UES abnormalities present (20% improved vs. 100%, P=0.015). This remained true even after adjusting for type of treatment received (surgical myotomy, per-oral endoscopic mytotomy, botulinum toxin injection, pneumatic dilatation, medical therapy, P=0.67) and achalasia subtype (P=1.00). UES abnormalities are a frequent finding on HREM studies, especially in patients with impaired LES relaxation, including both achalasia and esophagogastric junction outflow obstruction. Interestingly, the most common UES abnormality associated with achalasia was a hypertensive resting UES, despite the fact that achalasia is thought to spare striated muscle. Among patients with achalasia, we found a significant association between the lack of treatment response and the presence of UES dysfunction. The routine evaluation of UES function in patients referred for manometry may enhance our understanding of esophageal motility disorders and may yield important prognostic information, particularly in subjects with achalasia. Future prospective studies are needed to further delineate the underlying mechanism between UES dysfunction with achalasia and other esophageal motility disorders to predict treatment response and guide therapeutic treatment modalities.

The Value of Ultrasound and Magnetic Resonance Imaging in Diagnostics and Prediction of Morbidity in Cases of Placenta Previa with Abnormal Placentation

PubMed Central

Algebally, Ahmed M.; Yousef, Reda Ramadan Hussein; Badr, Sanaa Sayed Hussein; Al Obeidly, Amal; Szmigielski, Wojciech; Al Ibrahim, Abdullah A.

2014-01-01

Summary Background The purpose of the study was to evaluate the role of ultrasound (US) and magnetic resonance imaging (MRI) in the diagnostics and management of abnormal placentation in women with placenta previa and to compare the morbidity associated with that to placenta previa alone. Material/Methods The study includes 100 pregnant women with placenta previa with and without abnormal placentation. The results of MRI and US in abnormal placentation were compared with post-operative data. The patients’ files were reviewed for assessment of operative and post-operative morbidity. The results of our statistical analysis were compared with data from the literature. Results US and MRI showed no significant difference in sensitivity and specificity in diagnosing abnormal placentation (97–100% and 94–100%, respectively). MRI was more sensitive than US for the detection of myometrial invasion and the type of abnormal placentation (73.5% and 47%, respectively). The difference between pre- and post-operative hemoglobin values and estimated blood loss were the most significant risk factors for abnormal placentation, added to risk factors known for placenta previa. Post-partum surgical complications and prolonged hospital stay were more common in the cases of placenta previa with abnormal placentation, however statistically insignificant. Conclusions US and MRI are accurate imaging modalities for diagnosing abnormal placentation. MRI was more sensitive for the detection of the degree of placental invasion. The patient’s morbidity increased in cases with abnormal placentation. There was no significant difference in post operative-complications and hospitalization time due to pre-operative planning when the diagnosis was established with US and MRI. PMID:25411586

Genetics Home Reference: Fraser syndrome

MedlinePlus

... them, or they may be small ( microphthalmia ) or missing (anophthalmia). Eye abnormalities typically lead to impairment or ... other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair ...

Cranial mononeuropathy III

MedlinePlus

... is one of the cranial nerves that control eye movement. Causes may include: Brain aneurysm Infections Abnormal blood ... show: Enlarged (dilated) pupil of the affected eye Eye movement abnormalities Eyes that are not aligned Your health ...

Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome.

PubMed

Vootla, Vamshidhar R; Daniel, Myrta

2015-01-01

Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome.

Isolated cortical visual loss with subtle brain MRI abnormalities in a case of hypoxic-ischemic encephalopathy.

PubMed

Margolin, Edward; Gujar, Sachin K; Trobe, Jonathan D

2007-12-01

A 16-year-old boy who was briefly asystolic and hypotensive after a motor vehicle accident complained of abnormal vision after recovering consciousness. Visual acuity was normal, but visual fields were severely constricted without clear hemianopic features. The ophthalmic examination was otherwise normal. Brain MRI performed 11 days after the accident showed no pertinent abnormalities. At 6 months after the event, brain MRI demonstrated brain volume loss in the primary visual cortex and no other abnormalities. One year later, visual fields remained severely constricted; neurologic examination, including formal neuropsychometric testing, was normal. This case emphasizes the fact that hypoxic-ischemic encephalopathy (HIE) may cause enduring damage limited to primary visual cortex and that the MRI abnormalities may be subtle. These phenomena should be recognized in the management of patients with HIE.

Prognostic Utility of Stress Testing and Cardiac Biomarkers in Menopausal Women at Low to Intermediate Risk for Coronary ARTery Disease (SMART Study): 5-Year Outcome.

PubMed

Abdelmoneim, Sahar S; Ball, Caroline A; Mantovani, Francesca; Hagen, Mary E; Eifert-Rain, Susan; Wilansky, Susan; Castello, Ramon; Pellikka, Patricia A; Best, Patricia J M; Mulvagh, Sharon L

2018-05-01

In women with low to intermediate risk of coronary artery disease (CAD), prognostic detection strategies have been controversial. We present the follow-up data of the SMART trial in peri/postmenopausal women at low to intermediate risk of CAD. To determine the value of contrast stress echocardiography (CSE), stress electrocardiogram (sECG), and serum biomarkers for prediction of cardiovascular events (CE) in peri/postmenopausal women at low to intermediate risk of CAD. From January 2004 to August 2007, 400 peri/postmenopausal women were prospectively enrolled. All women had detailed risk factor assessment, and underwent simultaneous CSE (Definity ® , Lantheus Medical Imaging) and sECG. Laboratories included brain natriuretic peptide (BNP), atrial natriuretic peptide, endothelin, and high sensitivity C-reactive protein. Wall motion score index was based on a 16-segment model. Abnormal CSE was defined as new or worsening wall motion abnormality at stress, while abnormal sECG was ≥1 mm horizontal/downsloping ST segment depression/elevation (80 mseconds duration). Self-reported outcome data were collected from a mailed Women's Heart Clinic Questionnaire. CE outcomes included all-cause mortality, nonfatal myocardial infarction (MI), heart failure, chest pain hospitalization or development of typical angina (CP), and revascularization (REVASC). Adjusted Cox proportional hazard ratios (HR; 95% confidence intervals) were reported. A total of 366 women (54.4 ± 5.5 years, Framingham risk 6.5% ± 4.4%) completed simultaneous CSE and sECG. Forty-two (11.5%) had abnormal CSE, while sECG was abnormal in 22 (6%) women. Follow-up (4.4 ± 1.2 years) was available in 315/366 (86%) women (78% exercise-CSE, 22% dobutamine-CSE). In those who completed follow-up, CSE was abnormal in 33 women (10.5%) and sECG was abnormal in 21 (6.7%). In 33 women with abnormal CSE, sECG was abnormal in 7 (21.2%) and normal in 26 (79%), p = 0.0004. CE occurred in 27 (8.6%) women: 8 all-cause mortality, 2 nonfatal MI, 13 CP, and 4 REVASC. CE occurred in 21% versus 7% of women with abnormal versus normal CSE, p = 0.014 and 38% versus 6% of women with abnormal versus normal sECG, p < 0.0001. Rest BNP was higher in women with CE versus those without (p = 0.018). Abnormal sECG and abnormal CSE were associated with CE, while only abnormal sECG was an independent predictor of CE (adjusted HR 10.3 [1.9-61.4], p = 0.007). Of the laboratory results, only BNP was associated with CE (adjusted HR 2.9 [1.1-7.3], p = 0.028). sECG and rest BNP were independent predictors of subsequent CE within 5 years in peri/postmenopausal women at low to intermediate risk of CAD.

The accuracy of ultrasound in the diagnosis of congenital abnormalities.

PubMed

Munim, Shama; Nadeem, Salva; Khuwaja, Nadya Ali

2006-01-01

To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi. The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had been performed by operators with different level of experience. In addition this data was retrieved from the termination and Congenital anomaly register. A structured data collection form was used to collect information of different variables of interest. Congenital abnormalities, complicated 2.8% (n=170), of all deliveries, including all cases of termination of pregnancy, stillbirth and live births. Out of the total, 11.6% occurred in women above the age of 35 years. Consanguinity was found in 18.2% cases. Prenatal diagnosis was made in just under half of the cases (48.8%). Central nervous system and renal abnormalities were commonly diagnosed. However, facial defects, heart defects or skeletal defects were more commonly missed. Antenatal ultrasound successfully diagnosed foetal abnormalities in 48.8% of cases, and more than 90% Central Nervous system defects and renal abnormalities. In contrast about a quarter of Cardiac defects and none of the facial defects were detected. Based on these findings we recommend that the Sonologist should incorporate four chamber view of the heart and also look at the face carefully.

Sensory aspects of movement disorders

PubMed Central

Patel, Neepa; Jankovic, Joseph; Hallett, Mark

2016-01-01

Movement disorders, which include disorders such as Parkinson’s disease, dystonia, Tourette’s syndrome, restless legs syndrome, and akathisia, have traditionally been considered to be disorders of impaired motor control resulting predominantly from dysfunction of the basal ganglia. This notion has been revised largely because of increasing recognition of associated behavioural, psychiatric, autonomic, and other non-motor symptoms. The sensory aspects of movement disorders include intrinsic sensory abnormalities and the effects of external sensory input on the underlying motor abnormality. The basal ganglia, cerebellum, thalamus, and their connections, coupled with altered sensory input, seem to play a key part in abnormal sensorimotor integration. However, more investigation into the phenomenology and physiological basis of sensory abnormalities, and about the role of the basal ganglia, cerebellum, and related structures in somatosensory processing, and its effect on motor control, is needed. PMID:24331796

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

PubMed

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

2013-04-01

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

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

PubMed

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

2008-06-01

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

Peritoneal manifestations of fascioliasis on CT images: a new observation.

PubMed

Song, Kyoung Doo; Lim, Jae Hoon; Kim, Mi Jeong; Jang, Yun Jin; Kim, Jae Woon; Cho, Seung Hyun; Kwon, Jung Hyeok

2013-08-01

To describe peritoneal manifestations of fascioliasis on CT. We reviewed CT images in 31 patients with fascioliasis confirmed by enzyme-linked immunosorbent assay (ELISA) (n = 24) or surgery (n = 7). Image analyses were performed to identify hepatic, biliary, and peritoneal abnormalities. Hepatic abnormalities were seen in 28 (90.3 %) of the 31 patients. The most common finding was caves sign, which was present in 25 (80.1 %) patients. Three patients (9.7 %) presented with biliary abnormalities exhibiting dilatation and enhancing wall thickening of the bile duct, wall thickening of the gallbladder, and elongated structures in the bile duct or gallbladder. Peritoneal abnormalities were seen in 14 (45.2 %) of the 31 patients. The most common peritoneal abnormality was mesenteric or omental infiltration, which was seen in 9 (29.0 %) patients. Other peritoneal findings included lymph node enlargement (n = 7), ascites (n = 7), thickening of ligamentum teres (n = 2), and peritoneal mass (n = 2). Peritoneal manifestations of fascioliasis are relatively common, and CT findings include mesenteric or omental infiltration, lymph node enlargement, ascites, thickening of the ligamentum teres, and peritoneal masses.

Electrocardiographic abnormalities in opiate addicts.

PubMed

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

2008-12-01

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

Incidence of upper tract abnormalities in patients with neurovesical dysfunction secondary to multiple sclerosis: analysis of risk factors at initial urologic evaluation.

PubMed

Lemack, Gary E; Hawker, Kathleen; Frohman, Elliot

2005-05-01

To determine the incidence of upper tract abnormalities on renal ultrasonography in patients with multiple sclerosis (MS) referred for urologic evaluation, as well as to identify any risk factors present on the basis of the historical information and urodynamic findings. Data were derived from all patients with MS referred to the neurourology clinic during a 4-year period. The database was specifically queried for patients found to have upper tract abnormalities on screening renal ultrasonography. Demographic parameters, as well as laboratory values (creatinine) and urodynamic results, were evaluated for risk factors associated with abnormal upper tract findings. Of the 113 patients referred and evaluated, 66 completed both urodynamic testing and renal ultrasonography. Eleven (16.7%) had abnormal ultrasound findings, with focal caliectasis the most common finding. No demographic parameter (age, sex, time since MS diagnosis, MS pattern) was associated with a greater likelihood of abnormal renal ultrasonography on univariate analysis. Neither serum creatinine nor any urodynamic finding (including the presence of dyssynergia or the threshold and amplitude of detrusor overactivity) was associated with abnormal renal ultrasound findings. No patients in our series had any indication of obstructive uropathy more severe than mild hydronephrosis. Of the 16.7% of patients with any abnormal findings, most were noted to have minor caliectasis, likely to be of little clinical significance. Although no factors identifying patients at risk of renal abnormalities at presentation were found, ongoing evaluation of patients with baseline findings will serve to identify those at risk of progression.

Patient navigation improves cancer diagnostic resolution: an individually randomized clinical trial in an underserved population.

PubMed

Raich, Peter C; Whitley, Elizabeth M; Thorland, William; Valverde, Patricia; Fairclough, Diane

2012-10-01

Barriers to timely resolution of abnormal cancer screening tests add to cancer health disparities among low-income, uninsured, and minority populations. We conducted a randomized trial to evaluate the impact of lay patient navigators on time to resolution and completion of follow-up testing among patients with abnormal screening tests in a medically underserved patient population. Denver Health, the safety-net health care system serving Denver, is one of 10 performance sites participating in the Patient Navigation Research Program. Of 993 eligible subjects with abnormal screening tests randomized to navigation and no-navigation (control) arms and analyzed, 628 had abnormal breast screens (66 abnormal clinical breast examinations, 304 BIRADS 0, 200 BIRADS 3, 58 BIRADS 4 or 5) whereas 235 had abnormal colorectal and 130 had abnormal prostate screens. Time to resolution was significantly shorter in the navigated group (stratified log rank test, P < 0.001). Patient navigation improved diagnostic resolution for patients presenting with mammographic BIRADS 3 (P = 0.0003) and BIRADS 0 (P = 0.09), but not BIRADS 4/5 or abnormal breast examinations. Navigation shortened the time for both colorectal (P = 0.0017) and prostate screening resolution (P = 0.06). Participant demographics included 72% minority, 49% with annual household income less than $10,000, and 36% uninsured. Patient navigation positively impacts time to resolution of abnormal screening tests for breast, colorectal, and prostate cancers in a medically underserved population. By shortening the time to and increasing the proportion of patients with diagnostic resolution patient navigation could reduce disparities in stage at diagnosis and improve cancer outcomes. 2012 AACR

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

PubMed

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

2018-03-01

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

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

PubMed

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

2013-04-01

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

Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

PubMed

Cohen, J; Schanen, N C

2000-01-01

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

Current concepts of metabolic abnormalities in HIV patients: focus on lipodystrophy.

PubMed

Kolter, Donald P

2003-12-01

HIV infection is associated with a number of metabolic abnormalities, including lipodystrophy, a difficult-to-define disorder whose characteristics include hyperlipidemia, insulin resistance, and fat redistribution. Current data suggest that lipodystrophy is caused by multiple factors. Dual-nucleoside reverse transcriptase inhibitor therapy combined with protease inhibitor therapy has been shown to increase the risk of metabolic abnormalities, but susceptibility independent of drug effects has also been shown. While many of the treatments for the broad range of signs and symptoms of lipodystrophy bring about improvements in patient status, none have been demonstrated to bring about a return to baseline levels.

Endoscopy of the upper respiratory tract during treadmill exercise: a clinical study of 100 horses.

PubMed

Kannegieter, N J; Dore, M L

1995-03-01

Endoscopy of the upper respiratory tract was performed in 100 horses during high speed treadmill exercise. Reasons for endoscopy were a history of an abnormal noise during exercise in 75 horses, poor performance in 17 horses and to evaluate the results of upper respiratory tract surgery in 8 horses. Of the 75 horses with a history of an abnormal noise during exercise the cause was determined in 67 (89%). Endoscopic abnormalities were detected at rest in 40 of these 75 horses (53%). In these 40 horses, a similar diagnosis as to the cause of the abnormal noise was made at rest and during exercise on the treadmill in 19 cases, while in the remaining 21 the endoscopic findings during exercise varied from that seen at rest. This included 3 horses in which a diagnosis was made at rest but no abnormalities were detected during exercise. Some of the findings during treadmill endoscopy included laryngeal dysfunction, grades 3, 4 and 5 (22 cases), dorsal displacement of the soft palate (20), epiglottic entrapment (8), epiglottic flutter (4), aryepiglottic fold flutter (4), pharyngeal collapse (3), arytenoiditis (3), vocal cord flutter (3), false nostril noise (2), pharyngeal lymphoid hyperplasia (2), soft palate haemorrhage (1) and positional arytenoid collapse (1). More than one abnormality was observed during exercise in 7 horses. A complete and correct diagnosis based on the resting endoscopy findings alone was made in 19 (25%) of these 75 cases. In the 17 horses examined because of poor performance, no abnormalities were detected during treadmill endoscopy that were not evident at rest.(ABSTRACT TRUNCATED AT 250 WORDS)

Prevalence of vaginal microorganisms among pregnant women according to trimester and association with preterm birth

PubMed Central

Son, Kyung-A; Kim, Minji; Kim, Yoo Min; Kim, Soo Hyun; Choi, Suk-Joo; Roh, Cheong-Rae; Kim, Jong-Hwa

2018-01-01

Objective The aim of this study was to investigate the prevalence of abnormal vaginal microorganisms in pregnant women according to trimester, and to determine whether the presence of abnormal vaginal colonization is associated with higher risk of miscarriage or preterm delivery. Furthermore, we analyzed delivery outcomes according to individual microorganism species. Methods We included pregnant women who underwent vaginal culture during routine prenatal check-up between January 2011 and June 2016. We compared delivery outcomes according to the presence or absence of abnormal vaginal flora grouped by trimester. Results This study included 593 singleton pregnancies. We classified participants into 3 groups, according to the trimester in which vaginal culture was performed; 1st trimester (n=221), 2nd trimester (n=138), and 3rd trimester (n=234). Abnormal vaginal colonization rate significantly decreased with advancing trimester of pregnancy (21.7% for 1st, 21.0% for 2nd, 14.5% for 3rd; P=0.048). Abnormal vaginal colonization detected in the 2nd trimester but not in 1st trimester was associated with a significant increase in preterm delivery before 28 weeks of gestation (6.9% vs. 0%; P=0.006). Among abnormal vaginal flora isolated in the 2nd trimester, the presence of Klebsiella pneumonia was identified as significant microorganism associated with preterm delivery before 28 weeks of gestation (50% vs. 0.7% for K. pneumonia; P=0.029). Conclusion There is an association between abnormal vaginal colonization detected in the 2nd trimester and preterm delivery before 28 weeks. K. pneumonia has been identified as the likely causative microorganisms. PMID:29372148

[Anomalous systemic arterial supply to normal basal segments of the left lung (Pryce type I)].

PubMed

Ryu, Chusei; Sawada, Takahiro; Machino, Ryusuke

2013-03-01

Patient 1 was a 54-year-old female diagnosed with anomalous systemic arterial supply to normal basal segments of the left lung discovered as an abnormality on chest X-ray radiography. Patient 2 was a 47-year-old male in whom the disease was diagnosed by close examination of bloody sputum. Division of the abnormal artery and left lower lobectomy were performed in patient 1. Arterial congestion and serpentine distribution were noted in the basal segments of the lung, which was the region perfused by the abnormal artery, on histopathological examination. Arteriosclerotic changes were noted in the vascular wall, but no abnormal vascular wall or alveolar structure was noted in S6, which was not included in theperfused region. Based on the above findings, division of the abnormal artery and left basal segmentectomy were performed in patient 2. Bloody sputum disappeared, and activity of daily living( ADL) were not impaired after surgery.

Imaginal Disc Abnormalities in Lethal Mutants of Drosophila

PubMed Central

Shearn, Allen; Rice, Thomas; Garen, Alan; Gehring, Walter

1971-01-01

Late lethal mutants of Drosophila melanogaster, dying after the larval stage of development, were isolated. The homozygous mutant larvae were examined for abnormal imaginal disc morphology, and the discs were injected into normal larval hosts to test their capacities to differentiate into adult structures. In about half of the mutants analyzed, disc abnormalities were found. Included among the abnormalities were missing discs, small discs incapable of differentiating, morphologically normal discs with limited capacities for differentiation, and discs with homeotic transformations. In some mutants all discs were affected, and in others only certain discs. The most extreme abnormal phenotype is a class of “discless” mutants. The viability of these mutant larvae indicates that the discs are essential only for the development of an adult and not of a larva. The late lethals are therefore a major source of mutants for studying the genetic control of disc formation. Images PMID:5002822

[Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].

PubMed

Liu, Yang; Xie, Jiansheng; Geng, Qian; Xu, Zhiyong; Wu, Weiqin; Luo, Fuwei; Li, Suli; Wang, Qin; Chen, Wubin; Tan, Hongxi; Zhang, Hu

2017-02-10

To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV. Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.

Seizure and electroencephalographic changes in the newborn period induced by opiates and corrected by naloxone infusion.

PubMed

da Silva, O; Alexandrou, D; Knoppert, D; Young, G B

1999-03-01

To describe the association between opioid administration in the newborn period and neurologic abnormalities. Case reports of two infants who presented with seizure activity and abnormal electroencephalograms associated with opiate administration, and reversed by naloxone. The first was a preterm infant who developed a burst-suppression pattern on the electroencephalogram while receiving a continuous infusion of morphine and muscle paralysis. Naloxone injection during the electroencephalogram recording reversed the burst-suppression pattern. The second was a term infant receiving fentanyl infusion for pain control following surgery, who presented with motor seizure that was only partially controlled with barbiturates. An abnormal electroencephalogram recording during the opiate infusion improved with naloxone administration. Our observations indicate a potential for neurologic abnormalities, including induction of seizure activity and electroencephalogram abnormalities, suggesting caution when opiates are used for sedation and/or pain control in the newborn period.

Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia

PubMed Central

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

2009-01-01

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

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

PubMed

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

2009-09-15

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

Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

PubMed

Chitty, Lyn S; Hudgins, Louanne; Norton, Mary E

2018-02-01

Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. More recently, clinical laboratories have offered screening for other chromosome abnormalities including sex chromosome abnormalities and copy number variants (CNV) without little published data on the sensitivity, specificity, and positive predictive value. In this debate, the pros and cons of performing prenatal screening via cfDNA for all chromosome abnormalities is discussed. At the time of the debate in 2017, the general consensus was that the literature does not yet support using this technology to screen for all chromosome abnormalities and that education is key for both providers and the patients so that the decision-making process is as informed as possible. © 2018 John Wiley & Sons, Ltd.

Alopecia in four kittens caused by abnormal maternal licking behaviour.

PubMed

Fanton, N; Michelazzi, M; Cornegliani, L

2015-11-01

Abnormal maternal behaviour has been reported in cats, but is generally not included among the causes of alopecia in kittens. A litter of four kittens, 2 months old, was referred for evaluation of facial alopecia of differing severity. The 2-year-old queen was unaffected. Dermatological examination of the kittens did not find any infectious cause. Trichograms showed broken hair shafts with longitudinal splitting. Congenital alopecia was unlikely based on the clinical presentation. A behavioural consultation revealed abnormal grooming behaviour by the mother, who chewed and removed the hair from the kittens. The kittens were separated from the queen and alopecia resolved within a few weeks. To the authors' knowledge, this is the first report of alopecia caused by abnormal maternal licking behaviour. Abnormal maternal behaviour should be considered in cases of alopecia affecting a litter of kittens, when infectious and congenital causes have been ruled out. © 2015 Australian Veterinary Association.

Radiation induced abnormalities in early in vitro mouse embryos

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

Kirkpatrick, J.F.

1973-08-01

Female mice were superovulated and mated, and the two-cell embryos were collected and cultured in vitro. The embryos were exposed to x-irradiation (0 to 491 rads) during the two-cell stage before the appearance of the next cleavage plate, placed in new unirradiated culture medium and observed during subsequent development. Morphological abnormalities, which occurred as a result of irradiation, included fragmentation, disintegration, granlation, incomplete cleavage, cleavage cessation, nuclear degeneration and pycnosis and cytoplasmic vacuolization. There was no damage to the zona pellucida. The types of abnormalities indicate an agreement with the results of previous in vivo studies. A distinct correlation existedmore » between morphological abnormalities and embryo death. The greatest number of abnormalities resulted within five hours following irradiation, but increased through 20 hours post-exposure. At doses above 300 rads, the magnitude of damage was greater in the in vitro embryos than that shown in previous in vivo studies. (auth)« less

Characterization and prognostic implication of 17 chromosome abnormalities in myelodysplastic syndrome.

PubMed

Sánchez-Castro, Judit; Marco-Betés, Víctor; Gómez-Arbonés, Xavier; Arenillas, Leonor; Valcarcel, David; Vallespí, Teresa; Costa, Dolors; Nomdedeu, Benet; Jimenez, María José; Granada, Isabel; Grau, Javier; Ardanaz, María T; de la Serna, Javier; Carbonell, Félix; Cervera, José; Sierra, Adriana; Luño, Elisa; Cervero, Carlos J; Falantes, José; Calasanz, María J; González-Porrás, José R; Bailén, Alicia; Amigo, M Luz; Sanz, Guillermo; Solé, Francesc

2013-07-01

The prognosis of chromosome 17 (chr17) abnormalities in patients with primary myelodysplastic syndrome (MDS) remains unclear. The revised International Prognostic Scoring System (IPSS-R) includes these abnormalities within the intermediate cytogenetic risk group. This study assessed the impact on overall survival (OS) and risk of acute myeloid leukemia transformation (AMLt) of chr17 abnormalities in 88 patients with primary MDS. We have compared this group with 1346 patients with primary MDS and abnormal karyotype without chr17 involved. The alterations of chr17 should be considered within group of poor prognosis. The different types of alterations of chromosome 17 behave different prognosis. The study confirms the intermediate prognostic impact of the i(17q), as stated in IPSS-R. The results of the study, however, provide valuable new information on the prognostic impact of alterations of chromosome 17 in complex karyotypes. Copyright © 2013 Elsevier Ltd. All rights reserved.

Audiological characteristics of infants with abnormal transient evoked otoacoustic emission and normal auditory brainstem response.

PubMed

Huang, Lihui; Han, Demin; Guo, Ying; Liu, Sha; Cui, Xiaoyan; Mo, Lingyan; Qi, Beier; Cai, Zhenghua; Liu, Hui; En, Hui; Guo, Liansheng

2008-10-01

Audiological characteristics were investigated in 81 ears of 53 infants with abnormal transient evoked otoacoustic emission (TEOAE) and normal auditory brainstem response (ABR). The relationship between ABR and other hearing testing methods, including 40Hz auditory event-related potential (40Hz-AERP), auditory steady state response (ASSR), distortion product otoacoustic emission (DPOAE), tympanometry, and acoustic reflex, was analyzed. Of the 81 ears, 18 ears (22.2%) were normal, while 63 ears (77.8%) were abnormal according to the tests. Testing of the 40 Hz AERP (36 ears) and ASSR (45 ears) revealed that 14 ears (38.9%) and 27 ears (60.0%) were abnormal, respectively. Testing of DPOAE in 68 ears revealed that 50 ears (73.5%) were abnormal. Testing of tympanometry in 50 ears and acoustic reflex in 47 ears revealed that 9 ears (18%) and 27 ears (57.4%) were abnormal, respectively. The present data suggests that the hearing of infants cannot be sufficiently evaluated with ABR only and that it must be evaluated with integrative audiological testing methods.

Anterior ocular abnormalities of captive Asian elephants (Elephas maximus indicus) in Thailand.

PubMed

Kraiwong, Natapong; Sanyathitiseree, Pornchai; Boonprasert, Khajohnpat; Diskul, Phiphatanachatr; Charoenphan, Patara; Pintawong, Weerasak; Thayananuphat, Aree

2016-07-01

To survey and classify anterior ocular abnormalities in 1478 captive Asian elephants (Elephas maximus indicus) in six regions of Thailand. Anterior ocular examination was performed in both eyes (n = 2956) of 1478 elephants selected from the annual health check program involving 2958 animals within six regions of Thailand from January to November 2013. Lesions were described and compared between age and gender. A total of 17.83% (527/2956) of examined eyes from 24.97% (369/1478) of examined elephants had anterior ocular abnormalities. The most common lesions in these examined eyes were frothy ocular discharge (5.85%), corneal edema (5.31%), and conjunctivitis (5.18%). In addition, epiphora, phthisis bulbi, other corneal abnormalities, anterior uveitis, and lens abnormalities were noted. Almost all lesions increased in frequency with age (P < 0.01). Regular ophthalmic examination in elephants should be included in their annual health check program. Early detection and treatment of any ocular abnormality may avoid the development of subsequent irreversible ocular pathology. © 2015 American College of Veterinary Ophthalmologists.

[Squamous intraepithlelial lesions in women's lupus].

PubMed

Mercado, Ulises

2009-09-01

previous studies have suggested an association between systemic lupus erythematosus (SLE), abnormal cervical smears and squamous intraepithelial lesions (SIL), but the underlying cause of this association is not well defined. To review Pap smear and biopsy results in SLE women compared with healthy controls and to identify traditional risk factors associated with abnormal smears. Retrospective cohort study. Sixty-two SLE patients and 1719 controls were included. Women with abnormal Pap smear results were referred to colposcopic biopsy histology. Information on traditional risk factors was obtained. Among SLE patients, activity score (Mex-SLEDAI) and immunosuppressive drugs exposure also were determined. Fourteen (22%) out of 62 patients had abnormal Pap smear results, compared with 120 (7%) out of 1719 controls. Thirteen (92%) out of 14 patients showed SIL by histological examination, compared with 27 (22%) out of 120 controls. Two SLE women had condylomata. There were no significant differences in the use of immunosuppressive agents among SLE patients with and without SIL. Abnormal Pap smears, SIL by biopsy and changes in the sexual behavioral were more common among SLE patients than in controls. The immunosuppressive drug exposure was not associated with abnormal Pap smears.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

PubMed

Alby, Caroline; Piquand, Kevin; Huber, Céline; Megarbané, André; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechté; Abi-Tayeh, Georges; Bessières, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, László; Zombor, Melinda; Szabó, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Françoise; Munnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Saunier, Sophie; Cormier-Daire, Valérie; Attié-Bitach, Tania; Thomas, Sophie

2015-08-06

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed unaffected in mutant cells, we observed an abnormal extended pattern of CEP290, a centriolar satellite protein previously associated with ciliopathies. Our data show the crucial role of KIAA0586 in human primary ciliogenesis and subsequent abnormal hedgehog signaling through abnormal GLI3 processing. Our results thus establish that KIAA0586 mutations cause lethal ciliopathies. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome

PubMed Central

Vootla, Vamshidhar R.; Daniel, Myrta

2015-01-01

Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome. PMID:26351414

Brain Dysplasia Associated with Ciliary Dysfunction In Infants with Congenital Heart Disease

PubMed Central

Panigrahy, Ashok; Lee, Vincent; Ceschin, Rafael; Zuccoli, Giulio; Beluk, Nancy; Khalifa, Omar; Votava-Smith, Jodie K; DeBrunner, Mark; Munoz, Ricardo; Domnina, Yuliya; Morell, Victor; Wearden, Peter; De Toledo, Joan Sanchez; Devine, William; Zahid, Maliha; Lo, Cecilia W.

2016-01-01

Objective To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) Study design We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound and brain magnetic resonance imaging were obtained pre- and/or post-operatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected. Results A total of 10 (28.5%) patients with CHD had abnormal CM. Abnormal CM was not associated with brain injury, but was correlated with increased extra-axial CSF volume (p<0.001), delayed brain maturation (p<0.05), and a spectrum of subtle dysplasia including the hippocampus (p<0.0078) and olfactory bulb (p<0.034). Abnormal CM was associated with higher composite dysplasia score (p<0.001) and both were correlated with elevated pre-operative serum lactate (p <0.001). Conclusion Abnormal respiratory CM in infants with CHD is associated with a spectrum of brain dysplasia. These findings suggest that ciliary defects may play a role in brain dysplasia in patients with CHD and have the potential to prognosticate neurodevelopmental risks. PMID:27574995

Gamma-tubulin-containing abnormal centrioles are induced by insufficient Plk4 in human HCT116 colorectal cancer cells.

PubMed

Kuriyama, Ryoko; Bettencourt-Dias, Monica; Hoffmann, Ingrid; Arnold, Marc; Sandvig, Lisa

2009-06-15

Cancer cells frequently induce aberrant centrosomes, which have been implicated in cancer initiation and progression. Human colorectal cancer cells, HCT116, contain aberrant centrioles composed of disorganized cylindrical microtubules and displaced appendages. These cells also express unique centrosome-related structures associated with a subset of centrosomal components, including gamma-tubulin, centrin and PCM1. During hydroxyurea treatment, these abnormal structures become more abundant and undergo a change in shape from small dots to elongated fibers. Although gamma-tubulin seems to exist as a ring complex, the abnormal structures do not support microtubule nucleation. Several lines of evidence suggest that the fibers correspond to a disorganized form of centriolar microtubules. Plk4, a mammalian homolog of ZYG-1 essential for initiation of centriole biogenesis, is not associated with the gamma-tubulin-specific abnormal centrosomes. The amount of Plk4 at each centrosome was less in cells with abnormal centrosomes than cells without gamma-tubulin-specific abnormal centrosomes. In addition, the formation of abnormal structures was abolished by expression of exogenous Plk4, but not SAS6 and Cep135/Bld10p, which are downstream regulators required for the organization of nine-triplet microtubules. These results suggest that HCT116 cells fail to organize the ninefold symmetry of centrioles due to insufficient Plk4.

Ametropia, retinal anatomy, and OCT abnormality patterns in glaucoma. 2. Impacts of optic nerve head parameters

NASA Astrophysics Data System (ADS)

Baniasadi, Neda; Wang, Mengyu; Wang, Hui; Jin, Qingying; Elze, Tobias

2017-12-01

Clinicians use retinal nerve fiber layer thickness (RNFLT) measured by optical coherence tomography (OCT) as an adjunct to glaucoma diagnosis. Ametropia is accompanied by changes to the optic nerve head (ONH), which may affect how OCT machines mark RNFLT measurements as abnormal. These changes in abnormality patterns may bias glaucoma diagnosis. Here, we investigate the relationship between OCT abnormality patterns and the following ONH-related and ametropia-associated parameters on 421 eyes of glaucoma patients: optic disc tilt and torsion, central retinal vessel trunk location (CRVTL), and nasal and temporal retinal curvature adjacent to ONH, quantified as nasal/temporal slopes of the inner limiting membrane. We applied multivariate logistic regression with abnormality marks as regressands to 40,401 locations of the peripapillary region and generated spatial maps of locations of false positive/negative abnormality marks independent of glaucoma severity. Effects of torsion and temporal slope were negligible. The effect of tilt could be explained by covariation with ametropia. For CRVTL/nasal slope, abnormality pattern shifts at 7.2%/23.5% of the peripapillary region were detected, respectively, independent of glaucoma severity and ametropia. Therefore, CRVTL and nasal curvature should be included in OCT RNFLT norms. Our spatial location maps may aid clinicians to improve diagnostic accuracy.

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.

PubMed

Chavali, Venkata R M; Khan, Naheed W; Cukras, Catherine A; Bartsch, Dirk-Uwe; Jablonski, Monica M; Ayyagari, Radha

2011-05-15

Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long anterior lens zonules. In the sixth decade of life the rod and cone function declines, accompanied by electroretinogram (ERG) abnormalities. Some patients also develop choroidal neovascularization and glaucoma. In order to understand the disease pathology and mechanisms involved in retinal dystrophy, we generated a knock-in (Ctrp5(+/-)) mouse model carrying the disease-associated mutation in the mouse Ctrp5/C1QTNF5 gene. These mice develop slower rod-b wave recovery consistent with early dark adaptation abnormalities, accumulation of hyperautofluorescence spots, retinal pigment epithelium abnormalities, drusen, Bruch's membrane abnormalities, loss of photoreceptors, and retinal vascular leakage. The Ctrp5(+/-) mice, which have most of the pathological features of age-related macular degeneration, are unique and may serve as a valuable model both to understand the molecular pathology of late-onset retinal degeneration and to evaluate therapies.

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

PubMed Central

Chavali, Venkata R.M.; Khan, Naheed W.; Cukras, Catherine A.; Bartsch, Dirk-Uwe; Jablonski, Monica M.; Ayyagari, Radha

2011-01-01

Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long anterior lens zonules. In the sixth decade of life the rod and cone function declines, accompanied by electroretinogram (ERG) abnormalities. Some patients also develop choroidal neovascularization and glaucoma. In order to understand the disease pathology and mechanisms involved in retinal dystrophy, we generated a knock-in (Ctrp5+/−) mouse model carrying the disease-associated mutation in the mouse Ctrp5/C1QTNF5 gene. These mice develop slower rod-b wave recovery consistent with early dark adaptation abnormalities, accumulation of hyperautofluorescence spots, retinal pigment epithelium abnormalities, drusen, Bruch's membrane abnormalities, loss of photoreceptors, and retinal vascular leakage. The Ctrp5+/−mice, which have most of the pathological features of age-related macular degeneration, are unique and may serve as a valuable model both to understand the molecular pathology of late-onset retinal degeneration and to evaluate therapies. PMID:21349921

Meiotic behavior as a selection tool in silage corn breeding.

PubMed

Souza, V F; Pagliarini, M S; Scapim, C A; Rodovalho, M; Faria, M V

2010-10-19

In breeding programs, commercial hybrids are frequently used as a source of inbred lines to obtain new hybrids. Considering that maize production is dependent on viable gametes, the selection of populations to obtain inbred lines with high meiotic stability could contribute to the formation of new silage corn hybrids adapted to specific region. We evaluated the meiotic stability of five commercial hybrids of silage corn used in southern Brazil with conventional squashing methods. All of them showed meiotic abnormalities. Some abnormalities, such as abnormal chromosome segregation and absence of cytokinesis, occurred in all the genotypes, while others, including cytomixis and abnormal spindle orientation, were found only in some genotypes. The hybrid SG6010 had the lowest mean frequency of abnormal cells (21.27%); the highest frequency was found in the hybrid P30K64 (44.43%). However, the frequency of abnormal meiotic products was much lower in most genotypes, ranging from 7.63% in the hybrid CD304 to 43.86% in Garra. Taking into account the percentage of abnormal meiotic products and, hence, meiotic stability, only the hybrids CD304, P30K64, SG6010, and P30F53 are recommended to be retained in the breeding program to obtain inbred lines to create new hybrids.

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

PubMed

Ariss, Michelle; Natan, Kristina; Friedman, Neil; Traboulsi, Elias I

2012-09-01

Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia.

Abnormal uterine bleeding in reproductive-aged women.

PubMed

Matthews, Michelle L

2015-03-01

Abnormal uterine bleeding is a common medical condition with several causes. The International Federation of Gynecology and Obstetrics published guidelines in 2011 to develop universally accepted nomenclature and a classification system. In addition, the American College of Obstetrics and Gynecology recently updated recommendations on evaluation of abnormal uterine bleeding and indications for endometrial biopsies. This article reviews both medical and surgical treatments, including meta-analysis reviews of the most effective treatment options. Copyright © 2015 Elsevier Inc. All rights reserved.

Electrocardiographic Characteristics of Potential Organ Donors and Associations with Cardiac Allograft Utilization

PubMed Central

Khush, Kiran K.; Menza, Rebecca; Nguyen, John; Goldstein, Benjamin A.; Zaroff, Jonathan G.; Drew, Barbara J.

2012-01-01

Background Current regulations require that all cardiac allograft offers for transplantation must include an interpreted 12-lead electrocardiogram (ECG). However, little is known about the expected ECG findings in potential organ donors, or the clinical significance of any identified abnormalities in terms of cardiac allograft function and suitability for transplantation. Methods and Results A single experienced reviewer interpreted the first ECG obtained after brainstem herniation in 980 potential organ donors managed by the California Transplant Donor Network from 2002-2007. ECG abnormalities were summarized, and associations between specific ECG findings and cardiac allograft utilization for transplantation were studied. ECG abnormalities were present in 51% of all cases reviewed. The most common abnormalities included voltage criteria for left ventricular hypertrophy (LVH), prolongation of the corrected QT interval (QTc), and repolarization changes (ST/T wave abnormalities). Fifty seven percent of potential cardiac allografts in this cohort were accepted for transplantation. LVH on ECG was a strong predictor of allograft non-utilization. No significant associations were seen between QTc prolongation, repolarization changes and allograft utilization for transplantation, after adjusting for donor clinical variables and echocardiographic findings. Conclusions We have performed the first comprehensive study of ECG findings in potential donors for cardiac transplantation. Many of the common ECG abnormalities seen in organ donors may result from the heightened state of sympathetic activation that occurs after brainstem herniation, and are not associated with allograft utilization for transplantation. PMID:22615333

Guidelines to identify abnormalities after childhood urinary tract infections: a prospective audit.

PubMed

Coulthard, Malcolm G; Lambert, Heather J; Vernon, Susan J; Hunter, Elizabeth W; Keir, Michael J

2014-05-01

To compare the childhood urinary tract infection (UTI) guidelines from the Royal College of Physicians (RCP) in 1991 and from National Institute of Health and Care Excellence (NICE) (CG54) in 2007 by measuring their efficiency at detecting urinary tract abnormalities. Children with UTIs within the Newcastle Primary Care Trust (population 70,800 children) were referred and imaged according to the RCP guidelines during 2008, and these were compared to the activity that would have been undertaken if we had implemented the CG54 guidelines, including following them through 2011 to identify those with recurrent UTIs. The numbers of children imaged, the imaging burden and efficiency, and urinary tract abnormalities detected by each guideline. Fewer children would have been imaged by CG54 than RCP (150 vs 427), but its sensitivity was lower, at 44% for detecting scarring, 10% for identifying vesicoureteric reflux and 40% for other abnormalities. Overall, it would have only detected one-quarter of the abnormal cases (8 vs 32) and would have missed five of nine children with scarring, including three with multiple lesions and one with renal impairment. Imposing an age restriction of <8 years to the RCP guidelines would reduce its screening rate by 20% and still detect 90% of the abnormalities. The CG54 guidelines do not alter the imaging efficiency compared to the RCP guidelines, but they are considerably less sensitive.

Structural abnormality of the corticospinal tract in major depressive disorder

PubMed Central

2014-01-01

Background Scientists are beginning to document abnormalities in white matter connectivity in major depressive disorder (MDD). Recent developments in diffusion-weighted image analyses, including tractography clustering methods, may yield improved characterization of these white matter abnormalities in MDD. In this study, we acquired diffusion-weighted imaging data from MDD participants and matched healthy controls. We analyzed these data using two tractography clustering methods: automated fiber quantification (AFQ) and the maximum density path (MDP) procedure. We used AFQ to compare fractional anisotropy (FA; an index of water diffusion) in these two groups across major white matter tracts. Subsequently, we used the MDP procedure to compare FA differences in fiber paths related to the abnormalities in major fiber tracts that were identified using AFQ. Results FA was higher in the bilateral corticospinal tracts (CSTs) in MDD (p’s < 0.002). Secondary analyses using the MDP procedure detected primarily increases in FA in the CST-related fiber paths of the bilateral posterior limbs of the internal capsule, right superior corona radiata, and the left external capsule. Conclusions This is the first study to implicate the CST and several related fiber pathways in MDD. These findings suggest important new hypotheses regarding the role of CST abnormalities in MDD, including in relation to explicating CST-related abnormalities to depressive symptoms and RDoC domains and constructs. PMID:25295159

Retinal abnormalities in β-thalassemia major.

PubMed

Bhoiwala, Devang L; Dunaief, Joshua L

2016-01-01

Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-thalassemia major are transfusion dependent and require iron chelation therapy to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by iron chelation therapy. Some who were never treated with iron chelation therapy exhibited retinopathy, and others receiving iron chelation therapy had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-thalassemia major viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity. Copyright © 2016 Elsevier Inc. All rights reserved.

Characteristic Magnetic Resonance Imaging Findings in Rheumatoid Arthritis of the Temporomandibular Joint: Focus on Abnormal Bone Marrow Signal of the Mandibular Condyle, Pannus, and Lymph Node Swelling in the Parotid Glands.

PubMed

Hirahara, Naohisa; Kaneda, Takashi; Muraoka, Hirotaka; Fukuda, Taiga; Ito, Kotaro; Kawashima, Yusuke

2017-04-01

The purpose of this study was to determine the characteristic magnetic resonance imaging (MRI) findings indicating bone and soft tissue involvement in patients with rheumatoid arthritis (RA) of the temporomandibular joints (TMJs). Twenty-one patients with RA and TMJ pain who underwent MRI examination of the TMJs at the authors' hospital from August 2006 to December 2014 were included in this study. Twenty-two patients with normal TMJs who underwent MRI examination at the authors' hospital from November to December 2014 were included as controls. MRI findings were compared between the 2 groups. MRI findings of RA in the TMJ included 1) abnormal disc position (95.2%), 2) abnormal disc morphology (83.3%), 3) joint effusion (30.9%), 4) osseous changes in the mandibular condyle (83.3%), 5) synovial proliferation (pannus; 85.7%), 6) erosion of the articular eminence and glenoid fossa (9.52%), 7) deformity of the articular eminence and glenoid fossa (16.6%), 8) abnormal bone marrow signal in the mandibular condyle (83.3%), and 9) swelling of lymph nodes in the parotid glands (78.5%). The abnormal bone marrow signal and pannus in the mandibular condyle and lymph node swelling in the parotid glands were markedly more common in patients with RA than in controls. MRI findings of RA of the TMJs were characterized by bone and soft tissue involvement, including abnormal bone marrow signal of the mandibular condyle, pannus, and swelling of lymph nodes in the parotid glands. These characteristic MRI findings could be useful in detecting RA in the TMJ in a clinical situation. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

A temporal examination of co-activated emotion valence networks in schizophrenia and schizotypy

PubMed Central

Cohen, Alex S.; Callaway, Dallas A.; Mitchell, Kyle R.; Larsen, Jeff T.; Strauss, Gregory P.

2016-01-01

Emotional abnormalities are prominent across the schizophrenia spectrum. To better define these abnormalities, we examined state emotional functions across opposing ends of the spectrum, notably in chronic outpatients with schizophrenia (Study 1) and college students with psychometrically defined schizotypy (Study 2). In line with existing studies, we predicted that individuals with schizophrenia would show unusually co-activated positive and negative emotions while college students with schizotypy would show abnormally low positive and abnormally high negative emotions. Drawing from the affective science literature, we employed continuous emotion ratings in response to a dynamic and evocatively “bittersweet” stimulus. Participants included 27 individuals with schizophrenia, 39 individuals with psychometrically defined schizotypy and 26 community and 35 college control participants. Participants continuously rated their state happiness and sadness throughout a six-minute clip from a tragicomic film (i.e., Life is Beautiful). In contrast to expectations as well as the extant literature, there were no state emotional abnormalities noted from either schizophrenia-spectrum group. Of particular note, neither individuals with schizophrenia nor individuals with schizotypy were abnormal in their experience of state negative, positive or coactivated emotions. Conversely, abnormalities in trait emotion were observed in both groups relative to their respective control groups. These results help confirm that the schizophrenia-spectrum is not characterized by deficits in state emotional experience and suggest that sadness is not abnormally co-activated with pleasant emotions. These results are critical for clarifying the “chronometry” of emotional dysfunctions across the schizophrenia-spectrum. PMID:26711714

Surface-based brain morphometry and diffusion tensor imaging in schizoaffective disorder.

PubMed

Landin-Romero, Ramón; Canales-Rodríguez, Erick J; Kumfor, Fiona; Moreno-Alcázar, Ana; Madre, Mercè; Maristany, Teresa; Pomarol-Clotet, Edith; Amann, Benedikt L

2017-01-01

The profile of grey matter abnormalities and related white-matter pathology in schizoaffective disorder has only been studied to a limited extent. The aim of this study was to identify grey- and white-matter abnormalities in patients with schizoaffective disorder using complementary structural imaging techniques. Forty-five patients meeting Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition criteria and Research Diagnostic Criteria for schizoaffective disorder and 45 matched healthy controls underwent structural-T1 and diffusion magnetic resonance imaging to enable surface-based brain morphometry and diffusion tensor imaging analyses. Analyses were conducted to determine group differences in cortical volume, cortical thickness and surface area, as well as in fractional anisotropy and mean diffusivity. At a threshold of p = 0.05 corrected, all measures revealed significant differences between patients and controls at the group level. Spatial overlap of abnormalities was observed across the various structural neuroimaging measures. In grey matter, patients with schizoaffective disorder showed abnormalities in the frontal and temporal lobes, striatum, fusiform, cuneus, precuneus, lingual and limbic regions. White-matter abnormalities were identified in tracts connecting these areas, including the corpus callosum, superior and inferior longitudinal fasciculi, anterior thalamic radiation, uncinate fasciculus and cingulum bundle. The spatial overlap of abnormalities across the different imaging techniques suggests widespread and consistent brain pathology in schizoaffective disorder. The abnormalities were mainly detected in areas that have commonly been reported to be abnormal in schizophrenia, and to some extent in bipolar disorder, which may explain the clinical and aetiological overlap in these disorders.

Variation in family physicians' recording of auscultation abnormalities in patients with acute cough is not explained by case mix. A study from 12 European networks.

PubMed

Francis, Nick A; Melbye, Hasse; Kelly, Mark J; Cals, Jochen W L; Hopstaken, Rogier M; Coenen, Samuel; Butler, Christopher C

2013-06-01

Conflicting data on the diagnostic and prognostic value of auscultation abnormalities may be partly explained by inconsistent use of terminology. To describe general practitioners use of chest auscultation abnormality terms for patients presenting with acute cough across Europe, and to explore the influence of geographic location and case mix on use of these terms. Clinicians recorded whether 'diminished vesicular breathing', 'wheezes', 'crackles' and 'rhonchi' were present in an observational study of adults with acute cough in 13 networks in 12 European countries. We describe the use of these terms overall and by network, and used multilevel logistic regression to explore variation by network, controlling for patients' gender, age, comorbidities, smoking status and symptoms. 2345 patients were included. Wheeze was the auscultation abnormality most frequently recorded (20.6% overall) with wide variation by network (range: 8.3-30.8%). There was similar variation for other auscultation abnormalities. After controlling for patient characteristics, network was a significant predictor of auscultation abnormalities with odds ratios for location effects ranging from 0.37 to 4.46 for any recorded auscultation abnormality, and from 0.25 to 3.14 for rhonchi. There is important variation in recording chest auscultation abnormalities by general practitioners across Europe, which cannot be explained by differences in patient characteristics. There is a need and opportunity for standardization in the detection and classification of lung sounds.

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PubMed

van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

2016-10-01

To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (<10 mmHg) intraocular pressure (22%), and optic nerve hypoplasia (4%). Mutations were established in 22 patients: 19 PTPN11 mutations (76%), 1 SOS1 mutation, 1 BRAF mutation, and 1 KRAS mutation. The patient with the highest number of prominent corneal nerves had an SOS1 mutation. The patient with the lowest visual acuity, associated with bilateral optic nerve hypoplasia, had a BRAF mutation. Patients with severe ptosis and nearly total absence of levator muscle function had PTPN11 mutations. All patients showed at least 3 ocular features (range, 3-13; mean, 7), including at least 1 external ocular feature in more than 95% of the patients. Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Bronchial mucus properties in lung cancer: relationship with site of lesion.

PubMed

Zayas, J G; Rubin, B K; York, E L; Lien, D C; King, M

1999-01-01

To compare the biophysical properties of mucus from the left and right mainstem bronchi in patients undergoing diagnostic bronchoscopy because of a unilateral radiological abnormality. It was hypothesized that abnormalities in the properties of mucus would be greater on the side with the lesion and that this would be most obvious in patients with unilateral lung cancer. Bilateral paired samples of bronchial mucus were taken from 38 nonatopic patients (aged 59.8+/-12.6 years) including 16 nonsmokers, 14 current smokers and eight exsmokers (more than one year). Twenty of the 38 patients had a radiologically defined unilateral abnormality. Eight of these 20, including one nonsmoker, had lung cancer. The viscoelastic properties of the collected mucus were determined by magnetic microrheometry, and the analysis was carried out without knowledge of the histological diagnosis or source. The rheological properties of mucus strongly suggested which was the abnormal side. Within the group of 20 patients with a unilateral radiological abnormality, mucus from the side of the lesion had a lower value of the loss tangent, tan d100 (P=0.004), indicating greater mucus recoil. This is consistent with poor mucus cough clearability on the lesion side. All eight cancer patients fit this mucus rheological pattern with a lower value of tan d100 on the affected side (P=0.007). Four of the five other patients with a similar mucus abnormality were categorized as high cancer risk by other criteria, while six of seven patients with mucus that did not have this abnormality were considered to be lower risk. Based on the mucus analysis done at the time of the bronchoscopy, two of the 'noncancer' patients initially designated as high risk had cancer detected after several months of follow- up. Only two of the 18 patients without a defined unilateral lesion fit the mucus 'cancer pattern'. These findings are consistent with the hypothesis that either abnormalities in mucus properties may represent a risk factor for the development of lung cancer or that bronchial mucus abnormalities may be associated with products secreted by the tumours that, in turn, may suppress mucus clearance.

Method and system for providing work machine multi-functional user interface

DOEpatents

Hoff, Brian D [Peoria, IL; Akasam, Sivaprasad [Peoria, IL; Baker, Thomas M [Peoria, IL

2007-07-10

A method is performed to provide a multi-functional user interface on a work machine for displaying suggested corrective action. The process includes receiving status information associated with the work machine and analyzing the status information to determine an abnormal condition. The process also includes displaying a warning message on the display device indicating the abnormal condition and determining one or more corrective actions to handle the abnormal condition. Further, the process includes determining an appropriate corrective action among the one or more corrective actions and displaying a recommendation message on the display device reflecting the appropriate corrective action. The process may also include displaying a list including the remaining one or more corrective actions on the display device to provide alternative actions to an operator.

Back pain and degenerative abnormalities in the spine of young elite divers: a 5-year follow-up magnetic resonance imaging study.

PubMed

Baranto, Adad; Hellström, Mikael; Nyman, Rickard; Lundin, Olof; Swärd, Leif

2006-09-01

Several studies have been published on disc degeneration among young athletes in sports with great demands on the back, but few on competitive divers; however, there are no long-term follow-up studies. Twenty elite divers between 10 and 21 years of age, with the highest possible national ranking, were selected at random without knowledge of previous or present back injuries or symptoms for an MRI study of the thoraco-lumbar spine in a 5-year longitudinal study. The occurrence of MRI abnormalities and their correlation with back pain were evaluated. Eighty-nine percent of the divers had a history of back pain and the median age at the first episode of back pain was 15 years. Sixty-five percent of the divers had MRI abnormalities in the thoraco-lumbar spine already at baseline. Only one diver without abnormalities at baseline had developed abnormalities at follow-up. Deterioration of any type of abnormality was found in 9 of 17 (53%) divers. Including all disc levels in all divers, the total number of abnormalities increased by 29% at follow-up, as compared to baseline. The most common abnormalities were reduced disc signal, Schmorl's nodes, and disc height reduction. Since almost all divers had previous or present back pain, a differentiated analysis of the relationship between pain and MRI findings was not possible. However, the high frequency of both back pain and MRI changes suggests a causal relationship. In conclusion, elite divers had high frequency of back pain at young ages and they run a high risk of developing degenerative abnormalities of the thoraco-lumbar spine, probably due to injuries to the spine during the growth spurt.

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

PubMed Central

Alston, Robert; Wright, Neville B; Chandler, Kate; Bonney, Denise; Wynn, Robert F; Will, Andrew M; Punekar, Maqsood; Loughran, Sean; Kilday, John-Paul; Schindler, Detlev; Patel, Leena; Meyer, Stefan

2015-01-01

Objective: Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features. Methods: A review of the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and age-matched controls were determined. Results: Abnormalities were identified in 18 (90%) patients with FA, the commonest being a small pituitary (68%, p < 0.01 females and p < 0.001 males). In five cases (25%, p = 0.02), the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p = 0.01) including Chiari I malformation (n = 3), Dandy–Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30%, p = 0.01) had morphological structural variation of the corpus callosum (CC). Conclusion: The incidence of central nervous system (CNS) abnormalities in FA is higher than previously reported, with a midline predominance that points to impact in the early stages of CNS development. MRI brain imaging is important for endocrine assessment and pre-transplant evaluation and can make an important contribution to clinical decision-making. Advances in knowledge: The incidence of brain structural abnormalities in FA is higher than previously reported, with abnormalities of the posterior fossa, CC and pituitary being common. There is an association with gender and reduction in pituitary size which does not strongly correlate with biochemically evident endocrine abnormality. PMID:26369989

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

PubMed

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

1999-07-01

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

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

PubMed

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

2012-09-01

How many infertile men who wish to conceive need to be screened for chromosomal abnormalities to prevent one miscarriage or the birth of one child with congenital anomalies (CAs)? In azoospermic men, the prevalence of chromosomal abnormalities is 15.2% and the number needed to be screened (NNS; minimum-maximum estimate) for a miscarriage is 80-88 and for a child with CAs is 790-3951. The prevalence of chromosomal abnormalities in non-azoospermic men is 2.3% and the NNS are 315-347 and 2543-12 723, respectively. Guidelines advise the screening of infertile men for chromosomal abnormalities to prevent miscarriages and children with congenital abnormalities, but no studies have been published on the effectiveness of this screening strategy. Retrospective cohort study of 1223 infertile men between 1994 and 2007. Men with azoospermia and men eligible for ICSI treatment visiting a university hospital fertility clinic in The Netherlands who underwent chromosomal analysis between 1994 and 2007 were identified retrospectively in a registry. Only cases of which at least one sperm analysis was available were included. Data were collected by chart review, with a follow-up of pregnancies and their outcomes until 2010. The chromosomal abnormalities were categorized according to their risk of unbalanced offspring, i.e. miscarriage and/or child with CAs. Multi-level analysis was used to estimate the impact of chromosomal abnormalities on the outcome of pregnancies in the different subgroups of our cohort. NNS for miscarriages and children with CAs were calculated based on data from our cohort and data published in the literature. A chromosomal abnormality was found in 12 of 79 men with azoospermia (15.2%) and in 26 of 1144 non-azoospermic men (2.3%). The chromosomal abnormalities were categorized based on the literature, into abnormalities with and abnormalities without increased risk for miscarriage and/or child with CAs. In our study group, there was no statistically significant difference between the subgroups with and without increased risk respectively, regarding the frequency of children born with CAs (1/20; 5.0% versus 1/14; 7.1%), miscarriage (9/20; 45.0% versus 2/14; 14.3%) or unaffected liveborn children (9/20; 45.0% versus 9/14; 64.3%). The prevalence of chromosomal abnormalities with a theoretically increased risk of unbalanced progeny was 1.0% in non-azoospermic men and 3.8% in men with azoospermia. For the calculation of the NNS, the risk of an adverse pregnancy outcome in our cohort was compared with the incidence ranges of miscarriage and children with CAs in the general population. The number of azoospermic men that needs to be screened to prevent one miscarriage (80-88) or one child with CAs (790-3951) was considerably lower compared with the NNS in the non-azoospermic group (315-347 and 2543-12 723, respectively). The prevalence of chromosomal abnormalities in infertile men is low, and although we included 1223 men, our conclusions are based on a small number (38) of abnormal karyotypes. As there are no large series on outcomes of pregnancies in infertile men with chromosomal abnormalities, our conclusions had to be partly based on assumptions derived from the literature. Based on the NNS calculated in our study, screening for chromosomal abnormalities is recommended in all azoospermic men. In non-azoospermic infertile men, screening might be limited to men with an additional risk factor (e.g. a history of recurrent miscarriage or a positive family history for recurrent miscarriage or children with CAs). The NNS can be used in future cost-effectiveness studies and the evaluation of current guidelines on karyotyping infertile men.

Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

PubMed

Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

2014-08-01

In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Degenerative changes in adolescent spines: a comparison of motocross racers and age-matched controls.

PubMed

Daniels, David J; Luo, T David; Puffer, Ross; McIntosh, Amy L; Larson, A Noelle; Wetjen, Nicholas M; Clarke, Michelle J

2015-03-01

Motocross racing is a popular sport; however, its impact on the growing/developing pediatric spine is unknown. Using a retrospective cohort model, the authors compared the degree of advanced degenerative findings in young motocross racers with findings in age-matched controls. Patients who had been treated for motocross-related injury at the authors' institution between 2000 and 2007 and had been under 18 years of age at the time of injury and had undergone plain radiographic or CT examination of any spinal region were eligible for inclusion. Imaging was reviewed in a blinded fashion by 3 physicians for degenerative findings, including endplate abnormalities, loss of vertebral body height, wedging, and malalignment. Acute pathological segments were excluded. Spine radiographs from age-matched controls were similarly reviewed and the findings were compared. The motocross cohort consisted of 29 riders (mean age 14.7 years; 82% male); the control cohort consisted of 45 adolescents (mean age 14.3 years; 71% male). In the cervical spine, the motocross cohort had 55 abnormalities in 203 segments (average 1.90 abnormalities/patient) compared with 20 abnormalities in 213 segments in the controls (average 0.65/patient) (p = 0.006, Student t-test). In the thoracic spine, the motocross riders had 51 abnormalities in 292 segments (average 2.04 abnormalities/patient) compared with 25 abnormalities in 299 segments in the controls (average 1.00/patient) (p = 0.045). In the lumbar spine, the motocross cohort had 11 abnormalities in 123 segments (average 0.44 abnormalities/patient) compared with 15 abnormalities in 150 segments in the controls (average 0.50/patient) (p = 0.197). Increased degenerative changes in the cervical and thoracic spine were identified in adolescent motocross racers compared with age-matched controls. The long-term consequences of these changes are unknown; however, athletes and parents should be counseled accordingly about participation in motocross activities.

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

PubMed

Jerachotechueantaveechai, Tanut; Charoenkwan, Kittipat; Wongpakaran, Nahathai

2015-01-01

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

Motor Control Abnormalities in Parkinson’s Disease

PubMed Central

Mazzoni, Pietro; Shabbott, Britne; Cortés, Juan Camilo

2012-01-01

The primary manifestations of Parkinson’s disease are abnormalities of movement, including movement slowness, difficulties with gait and balance, and tremor. We know a considerable amount about the abnormalities of neuronal and muscle activity that correlate with these symptoms. Motor symptoms can also be described in terms of motor control, a level of description that explains how movement variables, such as a limb’s position and speed, are controlled and coordinated. Understanding motor symptoms as motor control abnormalities means to identify how the disease disrupts normal control processes. In the case of Parkinson’s disease, movement slowness, for example, would be explained by a disruption of the control processes that determine normal movement speed. Two long-term benefits of understanding the motor control basis of motor symptoms include the future design of neural prostheses to replace the function of damaged basal ganglia circuits, and the rational design of rehabilitation strategies. This type of understanding, however, remains limited, partly because of limitations in our knowledge of normal motor control. In this article, we review the concept of motor control and describe a few motor symptoms that illustrate the challenges in understanding such symptoms as motor control abnormalities. PMID:22675667

Endocrine Disruptor Vinclozolin Induced Epigenetic Transgenerational Adult-Onset Disease

PubMed Central

Anway, Matthew D.; Leathers, Charles; Skinner, Michael K.

2018-01-01

The fetal basis of adult disease is poorly understood on a molecular level and cannot be solely attributed to genetic mutations or a single etiology. Embryonic exposure to environmental compounds has been shown to promote various disease states or lesions in the first generation (F1). The current study used the endocrine disruptor vinclozolin (antiandrogenic compound) in a transient embryonic exposure at the time of gonadal sex determination in rats. Adult animals from the F1 generation and all subsequent generations examined (F1–F4) developed a number of disease states or tissue abnormalities including prostate disease, kidney disease, immune system abnormalities, testis abnormalities, and tumor development (e.g. breast). In addition, a number of blood abnormalities developed including hypercholesterolemia. The incidence or prevalence of these transgenerational disease states was high and consistent across all generations (F1–F4) and, based on data from a previous study, appears to be due in part to epigenetic alterations in the male germ line. The observations demonstrate that an environmental compound, endocrine disruptor, can induce transgenerational disease states or abnormalities, and this suggests a potential epigenetic etiology and molecular basis of adult onset disease. PMID:16973726

Neurologic abnormalities in murderers.

PubMed

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

1995-09-01

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

Skeletal muscle and fetal alcohol spectrum disorder.

PubMed

Myrie, Semone B; Pinder, Mark A

2018-04-01

Skeletal muscle is critical for mobility and many metabolic functions integral to survival and long-term health. Alcohol can affect skeletal muscle physiology and metabolism, which will have immediate and long-term consequences on health. While skeletal muscle abnormalities, including morphological, biochemical, and functional impairments, are well-documented in adults that excessively consume alcohol, there is a scarcity of information about the skeletal muscle in the offspring prenatally exposed to alcohol ("prenatal alcohol exposure"; PAE). This minireview examines the available studies addressing skeletal muscle abnormalities due to PAE. Growth restriction, fetal alcohol myopathy, and abnormalities in the neuromuscular system, which contribute to deficits in locomotion, are some direct, immediate consequences of PAE on skeletal muscle morphology and function. Long-term health consequences of PAE-related skeletal abnormalities include impaired glucose metabolism in the skeletal muscle, resulting in glucose intolerance and insulin resistance, leading to an increased risk of type 2 diabetes. In general, there is limited information on the morphological, biochemical, and functional features of skeletal abnormalities in PAE offspring. There is a need to understand how PAE affects muscle growth and function at the cellular level during early development to improve the immediate and long-term health of offspring suffering from PAE.

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

PubMed Central

Boddaert, Nathalie; Zilbovicius, Mônica; Philipe, Anne; Robel, Laurence; Bourgeois, Marie; Barthélemy, Catherine; Seidenwurm, David; Meresse, Isabelle; Laurier, Laurence; Desguerre, Isabelle; Bahi-Buisson, Nadia; Brunelle, Francis; Munnich, Arnold; Samson, Yves; Mouren, Marie-Christine; Chabane, Nadia

2009-01-01

Background The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000 [1]. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences. Methodology MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4±3.6) was performed. All met the DSM-IV and ADI –R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0±4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. Principal Findings MRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow–Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients). Conclusions An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These results could contribute to further etiopathogenetic research into autism. PMID:19204795

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

PubMed

Owen, Joshua M; Gaba, Ron Charles

2016-01-01

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. 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. 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. 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.

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

An investigation of mental imagery in bipolar disorder: Exploring "the mind's eye".

PubMed

Di Simplicio, Martina; Renner, Fritz; Blackwell, Simon E; Mitchell, Heather; Stratford, Hannah J; Watson, Peter; Myers, Nick; Nobre, Anna C; Lau-Zhu, Alex; Holmes, Emily A

2016-12-01

Mental imagery abnormalities occur across psychopathologies and are hypothesized to drive emotional difficulties in bipolar disorder (BD). A comprehensive assessment of mental imagery in BD is lacking. We aimed to test whether (i) mental imagery abnormalities (abnormalities in cognitive stages and subjective domains) occur in BD relative to non-clinical controls; and (ii) to determine the specificity of any abnormalities in BD relative to depression and anxiety disorders. Participants included 54 subjects in the BD group (depressed/euthymic; n=27 in each subgroup), subjects with unipolar depression (n=26), subjects with anxiety disorders (n=25), and non-clinical controls (n=27) matched for age, gender, ethnicity, education, and premorbid IQ. Experimental tasks assessed cognitive (non-emotional) measures of mental imagery (cognitive stages). Questionnaires, experimental tasks, and a phenomenological interview assessed subjective domains including spontaneous imagery use, interpretation bias, and emotional mental imagery. (i) Compared to non-clinical controls, the BD combined group reported a greater impact of intrusive prospective imagery in daily life, more vivid and "real" negative images (prospective imagery task), and higher self-involvement (picture-word task). The BD combined group showed no clear abnormalities in cognitive stages of mental imagery. (ii) When depressed individuals with BD were compared to the depressed or anxious clinical control groups, no significant differences remained-across all groups, imagery differences were associated with affective lability and anxiety. Compared to non-clinical controls, BD is characterized by abnormalities in aspects of emotional mental imagery within the context of otherwise normal cognitive aspects. When matched for depression and anxiety, these abnormalities are not specific to BD-rather, imagery may reflect a transdiagnostic marker of emotional psychopathology. © 2016 Medical Research Council. Bipolar Disorders Published by John Wiley & Sons Ltd.

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

PubMed

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

2015-04-01

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

Telemedicine for a General Screening of Retinal Disease Using Nonmydriatic Fundus Cameras in Optometry Centers: Three-Year Results.

PubMed

Zapata, Miguel A; Arcos, Gabriel; Fonollosa, Alex; Abraldes, Maximino; Oleñik, Andrea; Gutierrez, Estanislao; Garcia-Arumi, Jose

2017-01-01

Describe the first 3 years of highly specialized retinal screening through a web platform using a retinologists' network for image reading. All patients who came to centers in the network and consented to fundus photography were included. Images were evaluated by ophthalmologists. We describe number of patients, age, visual acuity, retinal abnormalities, medical recommendations, and factors associated with abnormal retinographies. Fifty thousand three hundred eighty-four patients were included; mean age 52.3 years (range 3-99). Mean visual acuity 20/25. Of the total cohort, 75% had normal retinographies, 22% had abnormalities, 1% referred acute floaters, 1% referred acute symptoms with normal retinography, and 1% could not be assessed. Ophthalmological referral was recommended in 12,634 patients: 9% urgent visit, 11% preferential (2-3 weeks), and 80% an ordinary visit. Age-related maculopathy signs were the most common abnormalities (2,456 patients, 4.8%). Epiretinal membrane was the second (764 cases, 1.5%). Diabetic retinopathy was suspected in 543 patients (1%), and nevi in 358 patients (0.7%). Patients older than 50 years had significantly more retinal abnormalities (31.5%) than younger ones (11.1%) (p < 0.0001; odds ratio [OR] 2.47; confidence interval [CI] 2.37-2.57). Patients with almost one eye with a myopic defect greater than -5 spherical equivalent had a higher risk of presenting abnormalities (p < 0.001; OR 1.04; CI 1.03-1.05). A high rate of asymptomatic retinal abnormalities was detected in this general screening, justifying this practice. Many patients who visit optometrists in Spain are unaware that they would benefit from ophthalmological monitoring. The ophthalmic community should lead initiatives of the type presented to preserve and guarantee quality standards.

In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.

PubMed

Parrozzani, Raffaele; Clementi, Maurizio; Frizziero, Luisa; Miglionico, Giacomo; Perrini, Pierdavide; Cavarzeran, Fabiano; Kotsafti, Olympia; Comacchio, Francesco; Trevisson, Eva; Convento, Enrica; Fusetti, Stefano; Midena, Edoardo

2015-09-01

To evaluate the feasibility of near-infrared (NIR) imaging acquisition in a large sample of consecutive pediatric patients with neurofibromatosis type 1 (NF1), to evaluate the diagnostic performance of NF1-related choroidal abnormalities as a diagnostic criterion of the disease, and to compare this criterion with other standard National Institutes of Health (NIH) diagnostic criteria. A total of 140 consecutive pediatric patients (0-16 years old) affected by NF1 (at least two diagnostic criteria), 59 suspected (a single diagnostic criterion), and 42 healthy subjects (no diagnostic criterion) were consecutively included. Each patient underwent genetic, dermatologic, and ophthalmologic examination to evaluate the presence/absence of each NIH diagnostic criterion. The presence of NF1-related choroidal abnormalities was investigated using NIR confocal ophthalmoscopy. Two masked operators assessed Lisch nodules and NF1-related choroidal abnormalities. Neurofibromatosis type 1-related choroidal abnormalities were detected in 72 affected (60.5%) and 1 suspected (2.4%) child. No healthy subject had choroidal abnormalities. Feasibility rate of this sign was 82%. Sensitivity, specificity, and positive and negative predictive values of NF1-related choroidal abnormalities were 0.60, 0.97, 0.98, and 0.46, respectively. Compared with standard NIH criteria, the presence of NF1-related choroidal abnormalities was the third parameter for positive predictive value and the fourth for sensitivity, specificity, and negative predictive value. Compared with Lisch nodules, NF1-related choroidal abnormalities were characterized by higher specificity and positive predictive value. The interoperator agreement for Lisch nodules and NF1-related choroidal abnormalities was 0.67 (substantial) and 0.97 (almost perfect), respectively. The use of this sign moved one patient from the suspected to the affected group (0.5%). Neurofibromatosis type 1-related choroidal abnormalities represent a new diagnostic sign in NF1 children. The main advantage of this sign seems the theoretical possibility to anticipate NF1 diagnosis, whereas the main obstacle is the cooperation required by very young patients.

Understanding Cervical Changes: A Health Guide for Women

Cancer.gov

Explains abnormal Pap test, HPV test, and Pap/HPV cotest results. Treatment and follow-up care for abnormal cervical cancer screening results including ASC-US, AGC, LSIL, ASC-H, HSIL, AIS. Learn about colposcopy, types of biopsies, CIN, and HPV vaccine.

20 CFR 416.928 - Symptoms, signs, and laboratory findings.

Code of Federal Regulations, 2011 CFR

2011-04-01

... or mental impairment. If you are a child under age 18 and are unable to adequately describe your... abnormalities, e.g., abnormalities of behavior, mood, thought, memory, orientation, development, or perception... include chemical tests, electrophysiological studies (electrocardiogram, electroencephalogram, etc...

20 CFR 416.928 - Symptoms, signs, and laboratory findings.

Code of Federal Regulations, 2010 CFR

2010-04-01

... or mental impairment. If you are a child under age 18 and are unable to adequately describe your... abnormalities, e.g., abnormalities of behavior, mood, thought, memory, orientation, development, or perception... include chemical tests, electrophysiological studies (electrocardiogram, electroencephalogram, etc...

20 CFR 416.928 - Symptoms, signs, and laboratory findings.

Code of Federal Regulations, 2014 CFR

2014-04-01

... or mental impairment. If you are a child under age 18 and are unable to adequately describe your... abnormalities, e.g., abnormalities of behavior, mood, thought, memory, orientation, development, or perception... include chemical tests, electrophysiological studies (electrocardiogram, electroencephalogram, etc...

20 CFR 416.928 - Symptoms, signs, and laboratory findings.

Code of Federal Regulations, 2013 CFR

2013-04-01

... or mental impairment. If you are a child under age 18 and are unable to adequately describe your... abnormalities, e.g., abnormalities of behavior, mood, thought, memory, orientation, development, or perception... include chemical tests, electrophysiological studies (electrocardiogram, electroencephalogram, etc...

20 CFR 416.928 - Symptoms, signs, and laboratory findings.

Code of Federal Regulations, 2012 CFR

2012-04-01

... or mental impairment. If you are a child under age 18 and are unable to adequately describe your... abnormalities, e.g., abnormalities of behavior, mood, thought, memory, orientation, development, or perception... include chemical tests, electrophysiological studies (electrocardiogram, electroencephalogram, etc...

CSF glucose test

MedlinePlus

Glucose test - CSF; Cerebrospinal fluid glucose test ... The glucose level in the CSF should be 50 to 80 mg/100 mL (or greater than 2/3 ... Abnormal results include higher and lower glucose levels. Abnormal ... or fungus) Inflammation of the central nervous system Tumor

LIPID ABNORMALITIES AND LIPID-BASED REPAIR STRATEGIES IN ATOPIC DERMATITIS

PubMed Central

Elias, Peter M.

2013-01-01

Prior studies have revealed the key roles played by Th1/Th2 cell dysregulation, IgE production, mast cell hyperactivity, and dendritic cell signaling in the evolution of the chronic, pruritic, inflammatory dermatosis that characterizes atopic dermatitis (AD). We review here increasing evidence that the inflammation in AD results primarily from inherited abnormalities in epidermal structural and enzymatic proteins that impact permeability barrier function. We also will show that the barrier defect can be attributed to a paracellular abnormality due to a variety of abnormalities in lipid composition, transport and extracellular organization. Accordingly, we also review the therapeutic implications of this emerging pathogenic paradigm, including several current and potentially novel, lipid-based approaches to corrective therapy. PMID:24128970

Method and system for determining precursors of health abnormalities from processing medical records

DOEpatents

None, None

2013-06-25

Medical reports are converted to document vectors in computing apparatus and sampled by applying a maximum variation sampling function including a fitness function to the document vectors to reduce a number of medical records being processed and to increase the diversity of the medical records being processed. Linguistic phrases are extracted from the medical records and converted to s-grams. A Haar wavelet function is applied to the s-grams over the preselected time interval; and the coefficient results of the Haar wavelet function are examined for patterns representing the likelihood of health abnormalities. This confirms certain s-grams as precursors of the health abnormality and a parameter can be calculated in relation to the occurrence of such a health abnormality.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

PubMed

Ürel-Demir, Gizem; Simsek-Kiper, Pelin Ozlem; Akgün-Doğan, Özlem; Göçmen, Rahşan; Wang, Zheng; Matsumoto, Naomichi; Miyake, Noriko; Utine, Gülen Eda; Nishimura, Gen; Ikegawa, Shiro; Boduroglu, Koray

2018-06-08

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by disproportionate short stature with narrow chest and dysmorphic facial features. The skeletal manifestations include platyspondyly, short flared ribs, short tubular bones with abnormal metaphyses and epiphyses, severe brachydactyly, and premature stippled calcifications in the cartilage. The abnormal calcifications are so distinctive as to point to the definitive diagnosis. However, they may be too subtle to attract diagnostic attention in infancy. Homozygous variants in DDR2 cause this disorder. We report on a 5-year-old girl with the classic phenotype of SMED, SL-AC in whom a novel homozygous nonsense mutation in DDR2 was detected using exome sequencing.

Electroencephalography after a single unprovoked seizure.

PubMed

Debicki, Derek B

2017-07-01

Electroencephalography (EEG) is an essential diagnostic tool in the evaluation of seizure disorders. In particular, EEG is used as an additional investigation for a single unprovoked seizure. Epileptiform abnormalities are related to seizure disorders and have been shown to predict recurrent unprovoked seizures (i.e., a clinical definition of epilepsy). Thus, the identification of epileptiform abnormalities after a single unprovoked seizure can inform treatment options. The current review addresses the relationship between EEG abnormalities and seizure recurrence. This review also addresses factors that are found to improve the yield of recording epileptiform abnormalities including timing of EEG relative to the new-onset seizure, use of repeat studies, use of sleep deprivation and prolonged recordings. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Aircraft Abnormal Conditions Detection, Identification, and Evaluation Using Innate and Adaptive Immune Systems Interaction

NASA Astrophysics Data System (ADS)

Al Azzawi, Dia

Abnormal flight conditions play a major role in aircraft accidents frequently causing loss of control. To ensure aircraft operation safety in all situations, intelligent system monitoring and adaptation must rely on accurately detecting the presence of abnormal conditions as soon as they take place, identifying their root cause(s), estimating their nature and severity, and predicting their impact on the flight envelope. Due to the complexity and multidimensionality of the aircraft system under abnormal conditions, these requirements are extremely difficult to satisfy using existing analytical and/or statistical approaches. Moreover, current methodologies have addressed only isolated classes of abnormal conditions and a reduced number of aircraft dynamic parameters within a limited region of the flight envelope. This research effort aims at developing an integrated and comprehensive framework for the aircraft abnormal conditions detection, identification, and evaluation based on the artificial immune systems paradigm, which has the capability to address the complexity and multidimensionality issues related to aircraft systems. Within the proposed framework, a novel algorithm was developed for the abnormal conditions detection problem and extended to the abnormal conditions identification and evaluation. The algorithm and its extensions were inspired from the functionality of the biological dendritic cells (an important part of the innate immune system) and their interaction with the different components of the adaptive immune system. Immunity-based methodologies for re-assessing the flight envelope at post-failure and predicting the impact of the abnormal conditions on the performance and handling qualities are also proposed and investigated in this study. The generality of the approach makes it applicable to any system. Data for artificial immune system development were collected from flight tests of a supersonic research aircraft within a motion-based flight simulator. The abnormal conditions considered in this work include locked actuators (stabilator, aileron, rudder, and throttle), structural damage of the wing, horizontal tail, and vertical tail, malfunctioning sensors, and reduced engine effectiveness. The results of applying the proposed approach to this wide range of abnormal conditions show its high capability in detecting the abnormal conditions with zero false alarms and very high detection rates, correctly identifying the failed subsystem and evaluating the type and severity of the failure. The results also reveal that the post-failure flight envelope can be reasonably predicted within this framework.

Radioaerosol lung imaging in chronic obstructive pulmonary disease. Comparison with pulmonary function tests and roentgenography. [/sup 113m/In, /sup 99m/Tc, /sup 133/Xe tracer techniques

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

Ramanna, L.; Tashkin, D.P.; Taplin, G.V.

1975-11-01

Seventy subjects with either no, mild, or definite evidence of pulmonary abnormality on screening studies volunteered to have detailed pulmonary function tests (PFTs), respiratory questionnaires, physical examinations, and /sup 113m/indium aerosol-inhalation lung imaging performed. Also, 22 and 52 of these subjects underwent /sup 133/xenon ventilation and lung perfusion imaging with /sup 99m/technetium-labelled macroaggregated albumin, and 56 had chest x-ray examinations performed. Results of the radionuclide lung-imaging procedures were compared with those of conventional PFTs and other clinical diagnostic procedures used to identify chronic obstructive pulmonary disease (COPD). Abnormal radioaerosol patterns were found in 32 of 33 subjects with abnormal findingsmore » on PFTs, whereas results of PFTs were abnormal in only 32 of 46 subjects with abnormal aerosol deposition. Aerosol lung images were abnormal more frequently than respiratory questionnaire responses, findings on physical examination, chest x-ray films, and perfusion lung images and with approximately the same frequency as /sup 133/xenon ventilation scintiscans. These results suggest that radioaerosol lung imaging may be a more sensitive indicator of early COPD than other diagnostic procedures, including maximal midexpiratory flow rates, single-breath nitrogen washout, and closing volume. Further studies are required to determine the physiologic and pathologic significance of isolated aerosol lung-imaging abnormalities.« less

The abilities of new anthropometric indices in identifying cardiometabolic abnormalities, and influence of residence area and lifestyle on these anthropometric indices in a Chinese community-dwelling population.

PubMed

Fu, Shihui; Luo, Leiming; Ye, Ping; Liu, Yuan; Zhu, Bing; Bai, Yongyi; Bai, Jie

2014-01-01

The study aimed to investigate the prevalence of overweight, obesity, and cardiometabolic abnormalities, the influence of residence area, occupation, and lifestyle on new anthropometric indices, and the relationship between anthropometric indices and cardiometabolic abnormalities in a Chinese community-dwelling population. The study included 4,868 residents through a large health check-up program in Beijing. Overall obesity existed in 22.2% of men and 28.1% of women. 67.1% of men and 65.2% of women were overweight. 65.99% of men and 65.97% of women had central obesity. Residents of rural areas, manual workers, and smokers had significantly higher anthropometric indices. The power of each anthropometric index varied for identifying different cardiometabolic abnormalities, and the ability of the waist-to-height ratio to identify participants with greater than one or two cardiometabolic abnormalities was optimal. The appropriate cut-off values of all anthropometric indices for cardiometabolic abnormalities were obtained. Overweight is common for both sexes in the People's Republic of China, as are general and central obesity. Residents of rural areas, manual workers, and smokers have significantly higher anthropometric indices. Waist-to-height ratio has the ability to reflect the compound risk of different cardiometabolic abnormalities and the greatest potential to be widely applied in clinical practice.

The abilities of new anthropometric indices in identifying cardiometabolic abnormalities, and influence of residence area and lifestyle on these anthropometric indices in a Chinese community-dwelling population

PubMed Central

Fu, Shihui; Luo, Leiming; Ye, Ping; Liu, Yuan; Zhu, Bing; Bai, Yongyi; Bai, Jie

2014-01-01

Objective The study aimed to investigate the prevalence of overweight, obesity, and cardiometabolic abnormalities, the influence of residence area, occupation, and lifestyle on new anthropometric indices, and the relationship between anthropometric indices and cardiometabolic abnormalities in a Chinese community-dwelling population. Methods The study included 4,868 residents through a large health check-up program in Beijing. Results Overall obesity existed in 22.2% of men and 28.1% of women. 67.1% of men and 65.2% of women were overweight. 65.99% of men and 65.97% of women had central obesity. Residents of rural areas, manual workers, and smokers had significantly higher anthropometric indices. The power of each anthropometric index varied for identifying different cardiometabolic abnormalities, and the ability of the waist-to-height ratio to identify participants with greater than one or two cardiometabolic abnormalities was optimal. The appropriate cut-off values of all anthropometric indices for cardiometabolic abnormalities were obtained. Conclusion Overweight is common for both sexes in the People’s Republic of China, as are general and central obesity. Residents of rural areas, manual workers, and smokers have significantly higher anthropometric indices. Waist-to-height ratio has the ability to reflect the compound risk of different cardiometabolic abnormalities and the greatest potential to be widely applied in clinical practice. PMID:24477219

Prevalence and factors associated with the presence of abnormal function liver tests in patients with ulcerative colitis.

PubMed

Yamamoto-Furusho, Jesús K; Sánchez-Osorio, Magdalena; Uribe, Misael

2010-01-01

To investigate the prevalence of abnormal function liver tests and risk factors associated with their development in Mexican patients with UC. A total of 200 patients with confirmed diagnosis of UC were evaluated prospectively during a one year period from January 1, 2007 to December 31, 2008. A total of 94 females and 106 males patients with UC were analyzed. The age at diagnosis was 31.4 ± 13.2 years and the mean of disease duration was 6.7 ± 5.2 years. We found a high prevalence of abnormal function livers tests in 40% of UC patients. The pattern of abnormal function liver test was hepatitis in 70%, cholestatic (20%) and mixed (10%). The most common cause of abnormal function liver test was transient elevation in 50 patients (63%) followed by fatty liver disease (11.2%), primary sclerosing cholangitis (6.3%), drug-toxicity (6%) and others (13.5%) including chronic hepatitis C, total parenteral nutrition, granulomatous and ischemic hepatitis. In the multivariate logistic regression model, active disease, colectomy and abdominal sepsis were factors that persisted associated with the development of abnormal liver tests in UC patients. A high prevalence of abnormal function liver tests (40%) was found in Mexican UC patients is likely to be related to active disease, colectomy and the presence of sepsis.

Evidence that the notochord may be pivotal in the development of sacral and anorectal malformations.

PubMed

Qi, Bao Quan; Beasley, Spencer W; Frizelle, Francis A

2003-09-01

The notochord is known to organize normal development of central axial structures, such as the spinal cord, vertebral column, and anorectum, but its role in abnormal development of these organs has not been well documented. The current study has used Ethylenethiourea to induce anorectal malformations in fetal rats, allowing investigation of abnormalities of the notochord and their relationship to the axial structural abnormalities that occur. Timed-mated pregnant rats were fed Ethylenethiourea by gavage on gestational day 10. Their embryos were harvested on gestational days 13 to 16 and sectioned in either the transverse or sagittal plane. Sections were stained with H and E and examined serially. Anorectal malformations were identified in 29 of 34 embryos and neural tube defects in 24, ranging from an accessory neural tube to lumbo-sacral rachischisis. There was no tail or only a rudimentary tail in the majority of embryos. Abnormalities of the notochord in the lumbo-sacral area included ventro-dorsal branching, ventral deviation, and ectopic notochordal tissue. Most abnormal notochord branches and ectopic notochordal tissue were abnormally close to or in contact with the wall of the cloaca or neural tube. Given the known role of the notochord in controlling normal development, this study would suggest that abnormal notochord development may be pivotal in producing neural tube defects and anorectal malformations, possibly by altering sonic hedgehog signalling.

Factors associated with abnormal eating attitudes among Greek adolescents.

PubMed

Bilali, Aggeliki; Galanis, Petros; Velonakis, Emmanuel; Katostaras, Theofanis

2010-01-01

To estimate the prevalence of abnormal eating attitudes among Greek adolescents and identify possible risk factors associated with these attitudes. Cross-sectional, school-based study. Six randomly selected schools in Patras, southern Greece. The study population consisted of 540 Greek students aged 13-18 years, and the response rate was 97%. The dependent variable was scores on the Eating Attitudes Test-26, with scores > or = 20 indicating abnormal eating attitudes. Bivariate analysis included independent Student t test, chi-square test, and Fisher's exact test. Multivariate logistic regression analysis was applied for the identification of the predictive factors, which were associated independently with abnormal eating attitudes. A 2-sided P value of less than .05 was considered statistically significant. The prevalence of abnormal eating attitudes was 16.7%. Multivariate logistic regression analysis demonstrated that females, urban residents, and those with a body mass index outside normal range, a perception of being overweight, body dissatisfaction, and a family member on a diet were independently related to abnormal eating attitudes. The results indicate that a proportion of Greek adolescents report abnormal eating attitudes and suggest that multiple factors contribute to the development of these attitudes. These findings are useful for further research into this topic and would be valuable in designing preventive interventions. Copyright 2010 Society for Nutrition Education. Published by Elsevier Inc. All rights reserved.

Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey.

PubMed

Adibi, Atoosa; Haghighi, Mahshid; Hosseini, Seyed Reza; Hashemipour, Mahin; Amini, Massoud; Hovsepian, Silva

2008-01-01

Congenital hypothyroidism (CH) is caused by thyroid dysgenesis and dyshormonogenesis. Evidence suggests the presence of genetic factors in both types of pathogenesis. We investigated whether an increased incidence of thyroid abnormalities could be shown by ultrasonography among first-degree relatives of children with CH. In this case-control study the presence of both developmental and non-developmental thyroid abnormalities was studied among first-degree relatives of CH patients and healthy children. Assessments included neck ultrasonography and thyroid function tests. The data obtained from parents, siblings and children were compared in the case and control groups. In the case group, 92 patients, 172 parents and 57 siblings, and in the control group, 82 healthy children, 160 parents and 39 siblings were studied. Thyroid developmental abnormalities were more prevalent among parents (3.5 vs. 0%, p = 0.03) and siblings (10.5 vs. 0, p = 0.01) of CH patients than the control group. Non-developmental abnormalities were not significantly different between the case and control groups (17 vs. 13%, p = 0.3). Thyroid developmental abnormalities were more prevalent among parents and siblings of CH patients than the control group, confirming the familial component of this entity. Copyright 2008 S. Karger AG, Basel.

Mechanisms and consequences of paternally transmitted chromosomal abnormalities

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

Marchetti, F; Wyrobek, A J

Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities.more » The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.« less

Prognostic significance of cytogenetic abnormalities in patients with chronic myelogenous leukemia.

PubMed

Przepiorka, D; Thomas, E D

1988-03-01

The cytogenetic data for 126 patients with Ph-positive chronic myelogenous leukemia (CML) in accelerated phase or blast crisis were analysed for clonal chromosomal abnormalities in addition to the standard Ph prior to allogeneic or syngeneic bone marrow transplantation (BMT). Additional clonal abnormalities were found in 84%, and 14% had a variant Ph (VPh). In decreasing order of frequency, the most common clonal abnormalities were a second Ph, +8, i(17q), -Y and +19. A second Ph, VPh or +8 occurred more frequently in patients who relapsed following BMT than in those who survived disease-free for at least 1 1/2 years. The presence of an i(17q) alone did not correlate with relapse. The patients with a second Ph, VPh or +8 had a median time to relapse of 19 months, and the risk of relapse at 3 years was 73%. Those with other or no additional clonal abnormalities had not reached a median time to relapse and had a 3-year risk of relapse of 31% (p = 0.002). This analysis suggests that specific cytogenetic abnormalities may be useful indicators of resistance to therapy for CML and should be included in proportional hazard models to predict outcome after BMT.

Dark and white lesions observed in central serous chorioretinopathy on optical coherence tomography angiography.

PubMed

De Bats, Flore; Cornut, Pierre-Loïc; Wolff, Benjamin; Kodjikian, Laurent; Mauget-Faÿsse, Martine

2018-03-01

To describe abnormal dark (hyposignal) and white (hypersignal) lesions observed on optical coherence tomography angiography in central serous chorioretinopathy. Prospective, multicenter, and descriptive study including patients with active or quiescent central serous chorioretinopathy. All patients had undergone a complete ophthalmic examination. Abnormal dark lesions were detected as "dark spots" and "dark areas" on optical coherence tomography angiography. A "dark spot" could correspond to six different abnormalities: pigment epithelium detachment, subretinal deposit, "Lucency" within surrounding subretinal fibrin, choroidal cavitation, choroidal excavation, and choroidal fluid. A "dark area" could be related to a serous retinal detachment or choriocapillary compression. Abnormal white lesions were also detected: A "white spot" could correspond with the leaking point on fluorescein angiography or with hyper-reflective dots; A "white filamentous pattern" at the Brüch's membrane level corresponded to abnormal choroidal neovascular vessels. A semiology is described using optical coherence tomography angiography in central serous chorioretinopathy as abnormal dark and white lesions. Multimodal imaging is mandatory in addition to optical coherence tomography angiography to diagnose non-neovascular retinal and choroidal central serous chorioretinopathy lesions. However, optical coherence tomography angiography alone is helpful in detecting choroidal neovascular membrane in central serous chorioretinopathy.

Brain stem and inner ear abnormalities in children with auditory neuropathy spectrum disorder and cochlear nerve deficiency.

PubMed

Huang, B Y; Roche, J P; Buchman, C A; Castillo, M

2010-11-01

Cranial abnormalities, including CND, are common in children with ANSD. The purpose of this study was to assess whether CND is associated with brain or inner ear abnormalities in a cohort of children with ANSD. Two neuroradiologists retrospectively reviewed cranial MR imaging examinations in 103 children with ANSD. Brain, cochlear nerve, and temporal bone abnormalities were described and tabulated. Findings were stratified on the basis of the presence and laterality of CND, and differences in the presence of associated inner ear or intracranial abnormalities were assessed by using 2-tailed Fisher exact tests. CND was identified in 33.0% of children and 26.9% of ears with ANSD. Significantly more patients with bilateral CND had intracranial abnormalities than those with unilateral CND (60.0% versus 15.8%; P = .012). Forty percent of patients with bilateral CND, 0% of patients with unilateral CND, and 10.1% of those without CND demonstrated hindbrain malformations. Patients with bilateral CND were more likely to demonstrate hindbrain malformations than patients with normal nerves (P = .01) or unilateral CND (P = .004). Labyrinthine abnormalities were significantly more common in patients with bilateral CND than in those without CND (P ≤ .001). Cochlear anomalies were more common in patients with bilateral versus unilateral CND (P = .01). IAC and cochlear aperture stenosis were more common in those with unilateral and bilateral CND than those without CND (both P < .001). Cochlear and hindbrain abnormalities are significantly more common among patients with ANSD with bilateral CND compared with those with at least 1 intact cochlear nerve.

The Objective Identification and Quantification of Interstitial Lung Abnormalities in Smokers.

PubMed

Ash, Samuel Y; Harmouche, Rola; Ross, James C; Diaz, Alejandro A; Hunninghake, Gary M; Putman, Rachel K; Onieva, Jorge; Martinez, Fernando J; Choi, Augustine M; Lynch, David A; Hatabu, Hiroto; Rosas, Ivan O; Estepar, Raul San Jose; Washko, George R

2017-08-01

Previous investigation suggests that visually detected interstitial changes in the lung parenchyma of smokers are highly clinically relevant and predict outcomes, including death. Visual subjective analysis to detect these changes is time-consuming, insensitive to subtle changes, and requires training to enhance reproducibility. Objective detection of such changes could provide a method of disease identification without these limitations. The goal of this study was to develop and test a fully automated image processing tool to objectively identify radiographic features associated with interstitial abnormalities in the computed tomography scans of a large cohort of smokers. An automated tool that uses local histogram analysis combined with distance from the pleural surface was used to detect radiographic features consistent with interstitial lung abnormalities in computed tomography scans from 2257 individuals from the Genetic Epidemiology of COPD study, a longitudinal observational study of smokers. The sensitivity and specificity of this tool was determined based on its ability to detect the visually identified presence of these abnormalities. The tool had a sensitivity of 87.8% and a specificity of 57.5% for the detection of interstitial lung abnormalities, with a c-statistic of 0.82, and was 100% sensitive and 56.7% specific for the detection of the visual subtype of interstitial abnormalities called fibrotic parenchymal abnormalities, with a c-statistic of 0.89. In smokers, a fully automated image processing tool is able to identify those individuals who have interstitial lung abnormalities with moderate sensitivity and specificity. Copyright © 2017 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

Abnormal behavior and associated risk factors in captive baboons (Papio hamadryas spp.).

PubMed

Lutz, Corrine K; Williams, Priscilla C; Sharp, R Mark

2014-04-01

Abnormal behavior, ranging from motor stereotypies to self-injurious behavior, has been documented in captive nonhuman primates, with risk factors including nursery rearing, single housing, and veterinary procedures. Much of this research has focused on macaque monkeys; less is known about the extent of and risk factors for abnormal behavior in baboons. Because abnormal behavior can be indicative of poor welfare, either past or present, the purpose of this study was to survey the presence of abnormal behavior in captive baboons and to identify potential risk factors for these behaviors with an aim of prevention. Subjects were 144 baboons (119 females, 25 males) aged 3-29 (median = 9.18) years temporarily singly housed for research or clinical reasons. A 15-min focal observation was conducted on each subject using the Noldus Observer® program. Abnormal behavior was observed in 26% of the subjects, with motor stereotypy (e.g., pace, rock, swing) being the most common. Motor stereotypy was negatively associated with age when first singly housed (P < 0.005) while self-directed behavior (e.g., hair pull, self-bite) was positively associated with the lifetime number of days singly housed (P < 0.05) and the average number of blood draws per year (P < 0.05). In addition, abnormal appetitive behavior was associated with being male (P < 0.05). Although the baboons in this study exhibited relatively low levels of abnormal behavior, the risk factors for these behaviors (e.g., social restriction, routine veterinary procedures, and sex) appear to remain consistent across primate species. © 2013 Wiley Periodicals, Inc.

Micronuclei as biomarkers for evaluating the risk of malignant transformation in the uterine cervix.

PubMed

Aires, G M A; Meireles, J R C; Oliveira, P C; Oliveira, J L; Araújo, E L; Pires, B C; Cruz, E S A; Jesus, N F; Pereira, C A B; Cerqueira, E M M

2011-01-01

We evaluated micronucleus and apoptosis occurrence among women with normal smears and women with different kinds of cervical abnormalities, i.e., inflammatory processes and low- and high-grade squamous intraepithelial lesions (N = 12, N = 10 and N = 27, respectively). The sample included 59 women who were seen at a public medical service for cervical cancer prevention in Feira de Santana, Bahia, Brazil. The diagnosis was established by means of cytological, colposcopic, and histopathological examination. Cytogenetic analysis was performed on 2000 cells from each woman and included assessment of micronuclei and nuclear degenerative abnormalities indicative of apoptosis (karyorrhexis, pyknosis and condensed chromatin). Micronucleus frequency was significantly higher in the women with high-grade squamous intraepithelial lesions than in the women without cervical abnormalities or inflammatory processes (P< 0.001) or in the women with low-grade squamous intraepithelial lesions (P < 0.005). The frequency of apoptosis was similar in women without cervical abnormalities and women showing high-grade squamous intraepithelial lesions (P > 0.50), and significantly lower in women without cervical abnormalities and in women showing high-grade squamous intraepithelial lesions than in women showing inflammatory processes or low-grade squamous intraepithelial lesions (P < 0.0001). These results indicate that, in addition to Papanicolaou cervical cytological analysis, it would be useful to use micronucleus analysis to screen women who are at risk of developing cervical cancer. The assessment of nuclear degenerative abnormalities indicative of apoptosis increased the sensitivity of this test.

Postmortem brain abnormalities of the glutamate neurotransmitter system in autism.

PubMed

Purcell, A E; Jeon, O H; Zimmerman, A W; Blue, M E; Pevsner, J

2001-11-13

Studies examining the brains of individuals with autism have identified anatomic and pathologic changes in regions such as the cerebellum and hippocampus. Little, if anything, is known, however, about the molecules that are involved in the pathogenesis of this disorder. To identify genes with abnormal expression levels in the cerebella of subjects with autism. Brain samples from a total of 10 individuals with autism and 23 matched controls were collected, mainly from the cerebellum. Two cDNA microarray technologies were used to identify genes that were significantly up- or downregulated in autism. The abnormal mRNA or protein levels of several genes identified by microarray analysis were investigated using PCR with reverse transcription and Western blotting. alpha-Amino-3-hydroxy-5-methyl-4-isoxazoleproprionic acid (AMPA)- and NMDA-type glutamate receptor densities were examined with receptor autoradiography in the cerebellum, caudate-putamen, and prefrontal cortex. The mRNA levels of several genes were significantly increased in autism, including excitatory amino acid transporter 1 and glutamate receptor AMPA 1, two members of the glutamate system. Abnormalities in the protein or mRNA levels of several additional molecules in the glutamate system were identified on further analysis, including glutamate receptor binding proteins. AMPA-type glutamate receptor density was decreased in the cerebellum of individuals with autism (p < 0.05). Subjects with autism may have specific abnormalities in the AMPA-type glutamate receptors and glutamate transporters in the cerebellum. These abnormalities may be directly involved in the pathogenesis of the disorder.

Guidelines to identify abnormalities after childhood urinary tract infections: a prospective audit

PubMed Central

Coulthard, Malcolm G; Lambert, Heather J; Vernon, Susan J; Hunter, Elizabeth W; Keir, Michael J

2014-01-01

Objective To compare the childhood urinary tract infection (UTI) guidelines from the Royal College of Physicians (RCP) in 1991 and from National Institute of Health and Care Excellence (NICE) (CG54) in 2007 by measuring their efficiency at detecting urinary tract abnormalities. Design Children with UTIs within the Newcastle Primary Care Trust (population 70 800 children) were referred and imaged according to the RCP guidelines during 2008, and these were compared to the activity that would have been undertaken if we had implemented the CG54 guidelines, including following them through 2011 to identify those with recurrent UTIs. Main outcome measures The numbers of children imaged, the imaging burden and efficiency, and urinary tract abnormalities detected by each guideline. Results Fewer children would have been imaged by CG54 than RCP (150 vs 427), but its sensitivity was lower, at 44% for detecting scarring, 10% for identifying vesicoureteric reflux and 40% for other abnormalities. Overall, it would have only detected one-quarter of the abnormal cases (8 vs 32) and would have missed five of nine children with scarring, including three with multiple lesions and one with renal impairment. Imposing an age restriction of <8 years to the RCP guidelines would reduce its screening rate by 20% and still detect 90% of the abnormalities. Interpretation The CG54 guidelines do not alter the imaging efficiency compared to the RCP guidelines, but they are considerably less sensitive. PMID:24436366

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.

PubMed

Maximino, Luciana Paula; Ducati, Luis Gustavo; Abramides, Dagma Venturini Marques; Corrêa, Camila de Castro; Garcia, Patrícia Fernandes; Fernandes, Adriano Yacubian

2017-12-01

To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

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

PubMed Central

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

2009-01-01

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

Chromosomal abnormalities, meiotic behavior and fertility in domestic animals.

PubMed

Villagómez, D A F; Pinton, A

2008-01-01

Since the advent of the surface microspreading technique for synaptonemal complex analysis, increasing interest in describing the synapsis patterns of chromosome abnormalities associated with fertility of domestic animals has been noticed during the past three decades. In spite of the number of scientific reports describing the occurrence of structural chromosome abnormalities, their meiotic behavior and gametic products, little is known in domestic animal species about the functional effects of such chromosome aberrations in the germ cell line of carriers. However, some interesting facts gained from recent and previous studies on the meiotic behavior of chromosome abnormalities of domestic animals permit us to discuss, in the frame of recent knowledge emerging from mouse and human investigations, the possible mechanism implicated in the well known association between meiotic disruption and chromosome pairing failure. New cytogenetic techniques, based on molecular and immunofluorescent analyses, are allowing a better description of meiotic processes, including gamete production. The present communication reviews the knowledge of the meiotic consequences of chromosome abnormalities in domestic animals. Copyright 2008 S. Karger AG, Basel.

Prediction of primary vs secondary hypertension in children.

PubMed

Baracco, Rossana; Kapur, Gaurav; Mattoo, Tej; Jain, Amrish; Valentini, Rudolph; Ahmed, Maheen; Thomas, Ronald

2012-05-01

Despite current guidelines, variability exists in the workup of hypertensive children due to physician preferences. The study evaluates primary vs secondary hypertension diagnosis from investigations routinely performed in hypertensive children. This retrospective study included children 5 to 19 years with primary and secondary hypertension. The proportions of abnormal laboratory and imaging tests were compared between primary and secondary hypertension groups. Risk factors for primary vs secondary hypertension were evaluated by logistic regression and likelihood function analysis. Patients with secondary hypertension were younger (5-12 years) and had a higher proportion of abnormal creatinine, renal ultrasound, and echocardiogram findings. There was no significant difference in abnormal results of thyroid function, urine catecholamines, plasma renin, and aldosterone. Abnormal renal ultrasound findings and age were predictors of secondary hypertension by regression and likelihood function analysis. Children aged 5 to 12 years with abnormal renal ultrasound findings and high diastolic blood pressures are at higher risk for secondary hypertension that requires detailed evaluation. © 2012 Wiley Periodicals, Inc.

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

PubMed Central

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

2013-01-01

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

Variations of pulmonary arteries and other associated defects in Tetralogy of Fallot.

PubMed

Sheikh, Abdul Malik; Kazmi, Uzma; Syed, Najam Hyder

2014-01-01

The objective of study was to determine pulmonary artery variations and other associated cardiac defects in patients with Tetralogy of Fallot. This cross-sectional, descriptive study was carried out at The Children's Hospital and the Institute of Child Health, Lahore, from January 2006 to December 2012. All patients with Tetralogy of Fallot, who underwent cardiac catheterization during this period, were included. Standard cine-angiograms were done to record the pulmonary artery sizes and associated cardiac defects. A total of 576 patients with Tetralogy of Fallot were catheterized. Pulmonary Artery abnormalities were present in 109 (18.92%) patients. The commonest abnormality was isolated Left Pulmonary Artery stenosis (n = 60, 10.4%) followed by supra-valvular stenosis (n = 9, 1.6%). Left Pulmonary Artery was absent in seven patients(1.2%), while 1 patient (0.2%) had both absent right and left Pulmonary Arteries with segmental branch pulmonary arteries originating directly from Main Pulmonary Artery. Associated cardiac lesions included right aortic arch in 72 (12.5%), additional muscular Ventricular Septal Defect in 31 (5.4%), Patent Ductus Arteriosus in 31 (5.4%), bilateral Superior Vena Cava 36(6.2%), Atrial Septal Defect 4(0.7%) and Major Aortopulmonary Collateral Arteries in 75(13%) patients. Significant coronary artery abnormalities were present in 28(4.9%) children. Pulmonary artery abnormalities were present in 18.92% of patients with Tetralogy of Fallot. Isolated Left Pulmonary Artery origin stenosis was the most common abnormality. Significant associated cardiac lesions including Patent Ductus Arteriosus , additional muscular Ventricular Septal Defect, coronary artery abnormalities, bilateral Superior Vena Cava, Atrial Septal Defect and Major Aortopulmonary Collateral Arteries were present in one-third of the patients.

Increased risk for abnormal depression scores in women with polycystic ovary syndrome: a systematic review and meta-analysis.

PubMed

Dokras, Anuja; Clifton, Shari; Futterweit, Walter; Wild, Robert

2011-01-01

Polycystic ovary syndrome (PCOS) and depression both have a high prevalence in reproductive-aged women. This study aimed to determine the prevalence of abnormal depression scores in women who meet currently recognized definitions of PCOS compared with women in a well-defined control group. The search was performed in MEDLINE, EMBASE Classic plus EMBASE, PsycINFO, Current Contents-Clinical Medicine and Current Contents-Life Sciences and Web of Science. Cochrane software Review Manager 5.0.24 was used to construct forest plots comparing risk of abnormal depression scores in those in the PCOS and control groups. Studies with well-defined criteria of women with PCOS and control groups of women without PCOS, with demographic information including age and body mass index (BMI), were included. Of 752 screened articles, 17 met the selection criteria for systematic review and 10 studies were included in the meta-analysis. Data were abstracted independently by three reviewers. All studies were cross-sectional and most used the Rotterdam criteria for the diagnosis of PCOS (n=10). The odds ratio (OR) for abnormal depression scores was 4.03 (95% confidence interval [CI] 2.96-5.5, P<.01) in women with PCOS (n=522) compared with those in the control groups (n=475). A subanalysis showed that the odds for abnormal depression scores was independent of BMI (OR 4.09, 95% CI 2.62-6.41). Several validated tools were used to screen for depression; the common tool used was the Beck Depression Inventory. The results of our study suggest the need to screen all women with PCOS for depression using validated screening tools. Women with PCOS are at an increased risk for abnormal depression scores independent of BMI.

MRI as a tool to study brain structure from mouse models for mental retardation

NASA Astrophysics Data System (ADS)

Verhoye, Marleen; Sijbers, Jan; Kooy, R. F.; Reyniers, E.; Fransen, E.; Oostra, B. A.; Willems, Peter; Van der Linden, Anne-Marie

1998-07-01

Nowadays, transgenic mice are a common tool to study brain abnormalities in neurological disorders. These studies usually rely on neuropathological examinations, which have a number of drawbacks, including the risk of artefacts introduced by fixation and dehydration procedures. Here we present 3D Fast Spin Echo Magnetic Resonance Imaging (MRI) in combination with 2D and 3D segmentation techniques as a powerful tool to study brain anatomy. We set up MRI of the brain in mouse models for the fragile X syndrome (FMR1 knockout) and Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus (CRASH) syndrome (L1CAM knockout). Our major goal was to determine qualitative and quantitative differences in specific brain structures. MRI of the brain of fragile X and CRASH patients has revealed alterations in the size of specific brain structures, including the cerebellar vermis and the ventricular system. In the present MRI study of the brain from fragile X knockout mice, we have measured the size of the brain, cerebellum and 4th ventricle, which were reported as abnormal in human fragile X patients, but found no evidence for altered brain regions in the mouse model. In CRASH syndrome, the most specific brain abnormalities are vermis hypoplasia and abnormalities of the ventricular system with some degree of hydrocephalus. With the MRI study of L1CAM knockout mice we found vermis hypoplasia, abnormalities of the ventricular system including dilatation of the lateral and the 4th ventricles. These subtle abnormalities were not detected upon standard neuropathological examination. Here we proved that this sensitive MRI technique allows to measure small differences which can not always be detected by means of pathology.

[Joint effect of birth weight and obesity measures on abnormal glucose metabolism at adulthood].

PubMed

Xi, Bo; Cheng, Hong; Chen, Fangfang; Zhao, Xiaoyuan; Mi, Jie

2016-01-01

To investigate the joint effect of birth weight and each of obesity measures (body mass index (BMI) and waist circumference (WC)) on abnormal glucose metabolism (including diabetes) at adulthood. Using the historical cohort study design and the convenience sampling method, 1 921 infants who were born in Beijing Union Medical College Hospital from June 1948 to December 1954 were selected to do the follow-up in 1995 and 2001 respectively. Through Beijing Household Registration and Management System, they were invited to participate in this study. A total of 972 subjects (627 were followed up in 1995 and 345 were followed up in 2001) with complete information on genders, age, birth weight, family history of diabetes, BMI, WC, fasting plasma glucose (FPG) and 2-hour plasma glucose (2 h PG) met the study inclusion criteria at the follow-up visits. In the data analysis, they were divided into low, normal, and high birth weight, respectively. The ANOVA and Chi-squared tests were used to compare the differences in their characteristics by birth weight group. In addition, multiple binary Logistic regression model was used to investigate the single effect of birth weight, BMI, and waist circumference on abnormal glucose metabolism at adulthood. Stratification analysis was used to investigate the joint effect of birth weight and each of obesity measures (BMI and WC) on abnormal glucose metabolism. There were 972 subjects (males: 50.7%, mean age: (46.0±2.2) years) included in the final data analysis. The 2 h PG in low birth weight group was (7.6±3.2) mmol/L , which was higher than that in normal birth weight group (6.9±2.1) mmol/L and high birth weight group (6.4±1.3) mmol/L (F=3.88, P=0.021). After adjustment for genders, age, body length, gestation age, family history of diabetes, physical activity, smoking and alcohol consumption, and duration of follow-up, subjects with overweight and obesity at adulthood had 2.73 (95% confidence interval (CI) =2.06- 3.62) times risk to develop abnormal glucose metabolism when compared with norm weight ones. Likewise, subjects with central obesity were more likely to develop abnormal glucose metabolism than ones with normal waist (odds ratio (OR)=3.35, 95%CI=2.49-4.50). In addition, compared to subjects with normal birth weight and normal BMI at adulthood, ones with normal birth weight and overweight (including obesity) at adulthood were more likely to have abnormal glucose metabolism (OR= 2.60, 95%CI=1.94-3.49); subjects with low birth weight and overweight (including obesity) at adulthood had the highest risk for abnormal glucose metabolism (OR=4.70, 95% CI=1.84- 11.99). The attributable proportion of interaction between low birth weight and overweight (including obesity) at adulthood was 48.5%. In addition, compared to subjects with normal birth weight and normal WC at adulthood, one with normal birth weight and central obesity at adulthood were more likely to have abnormal glucose metabolism (OR=3.18, 95% CI=2.33- 4.32); subjects with low birth weight and central obesity at adulthood had the highest risk for abnormal glucose metabolism (OR=4.78, 95% CI=2.01- 11.38); subjects with high birth weight and central at adulthood also had high risk for abnormal glucose metabolism (OR=4.35, 95%CI=1.38- 13.65). We found that the attributable proportion of interaction between low birth weight and central obesity at adulthood was 38.5% , and was 28.3% for interaction between high weight and central obesity. There was strong interaction effect between birth weight and overweight (especially central obesity) at adulthood on abnormal glucose metabolism at adulthood. Effective measures should be adopted to prevent and control adult obesity in order to offset the adverse effect of birth weight on long-term health risk.

Pap and HPV Testing

Cancer.gov

Pap tests detect abnormal cervical cells, including precancerous cervical lesions, as well as early cervical cancers. HPV tests detect HPV infections that can cause cervical cell abnormalities. Learn how Pap and HPV tests are done, how often testing should be done, and how are HPV test results are reported.

The Teaching of Abnormal Psychology through the Cinema.

ERIC Educational Resources Information Center

Nissim-Sabat, Denis

1979-01-01

Describes abnormal psychology course centered around films which include "King of Hearts,""A Woman Under the Influence,""David and Lisa,""In Cold Blood," and "The Boys in the Band." Each film deals with a fundamental concept such as psychopathology, neurosis, psychosis, insanity, and sexuality. (KC)

Probability of Regenerating a Normal Limb After Bite Injury in the Mexican Axolotl (Ambystoma mexicanum).

PubMed

Thompson, Sierra; Muzinic, Laura; Muzinic, Christopher; Niemiller, Matthew L; Voss, S Randal

2014-06-01

Multiple factors are thought to cause limb abnormalities in amphibian populations by altering processes of limb development and regeneration. We examined adult and juvenile axolotls ( Ambystoma mexicanum ) in the Ambystoma Genetic Stock Center (AGSC) for limb and digit abnormalities to investigate the probability of normal regeneration after bite injury. We observed that 80% of larval salamanders show evidence of bite injury at the time of transition from group housing to solitary housing. Among 717 adult axolotls that were surveyed, which included solitary-housed males and group-housed females, approximately half presented abnormalities, including examples of extra or missing digits and limbs, fused digits, and digits growing from atypical anatomical positions. Bite injury likely explains these limb defects, and not abnormal development, because limbs with normal anatomy regenerated after performing rostral amputations. We infer that only 43% of AGSC larvae will present four anatomically normal looking adult limbs after incurring a bite injury. Our results show regeneration of normal limb anatomy to be less than perfect after bite injury.

Bacterial flora in abnormalities of the female genital tract

PubMed Central

Gordon, A. M.; Hughes, H. E.; Barr, G. T. D.

1966-01-01

The bacterial flora associated with certain common abnormalities of the female genital tract were studied. The abnormalities included were trichomonal infestation of the vagina, the epithelial inflammation and cellular atypia associated with protozoal infestation, and erosions of the cervix. Trichomonas vaginalis infestation and marked epithelial inflammation were associated with a very varied bacterial flora in which Mycoplasma species, streptococci, and `Haemophilus vaginalis' (Gardner and Dukes, 1955) were often prominent. No cases of vaginitis attributable to Haemophilus vaginalis were detected. An essentially normal bacterial flora accompanied erosions of the cervix. PMID:5919354

Atherosclerosis in epilepsy: its causes and implications.

PubMed

Hamed, Sherifa A

2014-12-01

Evidence from epidemiological, longitudinal, prospective, double-blinded clinical trials as well as case reports documents age-accelerated atherosclerosis with increased carotid artery intima media thickness (CA-IMT) in patients with epilepsy. These findings raise concern regarding their implications for age-accelerated cognitive and behavioral changes in midlife and risk of later age-related cognitive disorders including neurodegenerative processes such as Alzheimer's disease (AD). Chronic epilepsy, cerebral atherosclerosis, and age-related cognitive disorders including AD share many clinical manifestations (e.g. characteristic cognitive deficits), risk factors, and structural and pathological brain abnormalities. These shared risk factors include increased CA-IMT, hyperhomocysteinemia (HHcy), lipid abnormalities, weight gain and obesity, insulin resistance (IR), and high levels of inflammatory and oxidative stresses. The resulting brain structural and pathological abnormalities include decreased volume of the hippocampus, increased cortical thinning of the frontal lobe, ventricular expansion and increased white matter ischemic disease, total brain atrophy, and β-amyloid protein deposition in the brain. The knowledge that age-accelerated atherosclerosis may contribute to age-accelerated cognitive and behavioral abnormalities and structural brain pathologies in patients with chronic epilepsy represents an important research path to pursue future clinical and management considerations. Copyright © 2014 Elsevier Inc. All rights reserved.

Skeletal Complications in Neurofibromatosis Type 1: The Role of Neurofibromin Haploinsufficiency in Defective Skeletal Remodeling and Bone Healing in NF1

DTIC Science & Technology

2007-01-01

including scoliosis and pseudoarthrosis, which are compounded by osteoporosis and poor bone healing. Corrective orthopaedic intervention often fails...3 - Introduction: A large proportion of patients with Neurofibromatosis Type 1 display skeletal abnormalities including scoliosis and...abnormalities including alterations in bone size and shape, the presence of scoliosis , and a tendency to develop pseudoarthrosis. These skeletal

Use of the SeHCAT test in the investigation of diarrhoea.

PubMed

Ford, G A; Preece, J D; Davies, I H; Wilkinson, S P

1992-04-01

The SeHCAT test was used to investigate possible bile acid malabsorption in 166 patients presenting to a district general hospital with chronic diarrhoea of uncertain cause. Eighty-four (51%) patients had impaired SeHCAT retention. These included 23 of 28 patients with a possible type I abnormality (terminal ileal resection or disease, previous pelvic radiotherapy), 20 of 74 with a possible type II abnormality (idiopathic diarrhoea), 32 of 45 with a possible type III abnormality (post-cholecystectomy, post-vagotomy), and 9 of 19 with diarrhoea associated with diabetes. Patients with severe bile acid malabsorption demonstrated a good response to cholestyramine whereas the response in patients with a mildly abnormal SeHCAT retention was variable. Bile acid malabsorption is an important cause of diarrhoea in patients presenting with unexplained chronic diarrhoea.

Prevalence and distribution of congenital abnormalities in Turkey: differences between the prenatal and postnatal periods.

PubMed

Oztarhan, Kazim; Gedikbasi, Ali; Yildirim, Dogukan; Arslan, Oguz; Adal, Erdal; Kavuncuoglu, Sultan; Ozbek, Sibel; Ceylan, Yavuz

2010-12-01

The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital abnormalities managed in the Neonatology Unit were classified based on the above distribution scheme. During the 5-year study period, 1906 cases with congenital abnormalities were recruited, as follows: 640 prenatally detected and terminated cases, with most abnormalities related to the central nervous system, chromosomes, and urogenital system (56.7%, 12.7%, and 8.9%, respectively); 712 neonates with congenital abnormalities (congenital heart disease [49.2%], central nervous system abnormalities [14.7%], and urogenital system abnormalities [12.9%]); and hospital stillbirths, of which 34.2% had malformations (220 prenatal cases [34.4%] had multiple abnormalities, whereas 188 liveborn cases [26.4%] had multiple abnormalities). The congenital abnormalities rate between 2002 and 2006 was 2.07%. Systematic screening for fetal anomalies is the primary means for identification of affected pregnancies. © 2010 The Authors. Congenital Anomalies © 2010 Japanese Teratology Society.

The nurse response to abnormal vital sign recording in the emergency department.

PubMed

Johnson, Kimberly D; Mueller, Lindsey; Winkelman, Chris

2017-01-01

To examine what occurs after a recorded observation of at least one abnormal vital sign in the emergency department. The aims were to determine how often abnormal vital signs were recorded, what interventions were documented, and what factors were associated with documented follow-up for abnormal vital signs. Monitoring quality of care, and preventing or intervening before harm occurs to patients are central to nurses' roles. Abnormal vital signs have been associated with poor patient outcomes and require follow-up after the observation of abnormal readings to prevent patient harm related to a deteriorating status. This documentation is important to quality and safety of care. Observational, retrospective chart review. Modified Early Warning Score was calculated for all recorded vital signs for 195 charts. Comparisons were made between groups: (1) no abnormal vital signs, (2) abnormal vital sign present, but normal Modified Early Warning Score and (3) critically abnormal Modified Early Warning Score. About 62·1% of charts had an abnormal vital sign documented. Critically abnormal values were present in 14·9%. No documentation was present in 44·6% of abnormal cases. When interventions were documented, it was usually to notify the physician. The timing within the emergency department visit when the abnormalities were observed and the degree of abnormality had significant relationships to the presence of documentation. It is doubtful that nurses do not recognise abnormalities because more severely abnormal vital signs were more likely to have documented follow-up. Perhaps the interruptive nature of the emergency department or the prioritised actions of the nurse impacted documentation within this study. Further research is required to determine why follow-up is not being documented. To ensure safety and quality of patient care, accurate documentation of responses to abnormal vital signs is required. © 2016 John Wiley & Sons Ltd.

[Neonatal tumours and congenital malformations].

PubMed

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data exist on the neonatal period and the majority are from medical institutions registers. The prevalence varies from 15 to 31.6%. To explain this association, the hypotheses are based on prenatal exposures (preconceptional and transplacental exposure), to mutagenic and carcinogenic risk factors. Neonatal tumours are more often associated to congenital abnormalities than other pediatric cancers. The inclusion and classification criteria needs to be unified to better understand the association between the neonatal tumours and congenital abnormalities. The environmental history in all neonatal tumours associated to congenital abnormalities, including the constitutional and environmental risk factors, will help to improve our knowledge of the underlying prenatal mechanisms and to an advance in its prevention.

Correlation between blink reflex abnormalities and magnetic resonance imaging findings in patients with multiple sclerosis.

PubMed

Degirmenci, Eylem; Erdogan, Cagdas; Bir, Levent Sinan

2013-09-01

This study investigates the correlation between brain magnetic resonance imaging findings and blink reflex abnormalities in patients with relapsing remitting multiple sclerosis. Twenty-six patients and 17 healthy subjects were included in this study. Blink reflex test (BRT) results were obtained using right and left stimulations; thus, 52 BRT results were recorded for the patient group, and 34 BRT results were recorded for the control group. The magnetic resonance imaging (MRI) findings were classified based on the existence of brainstem lesions (hyperintense lesion on T2 weighted (W) and fast fluid-attenuated inversion recovery MRI or contrast-enhancing lesion on T1W MRI). Correlation analysis was performed for the BRT and MRI findings. The percentage of individuals with abnormal BRT results (including R1 latency, ipsilateral R2 latency, and contralateral R2 latency) was significantly higher in the patient group as compared to the control group (p values: 0.015, 0.001, and 0.002, respectively). Correlation analysis revealed significant correlations between contralateral R2 latency abnormalities and brainstem lesions (p value: 0.011). Our results showed significant correlation correlations between contralateral R2 latency abnormalities and brainstem lesions and these results may be explained the effects of multiple demyelinating lesions of the brain stem of patients with relapsing remitting multiple sclerosis.

Chromosomal Aneuploidies and Early Embryonic Developmental Arrest.

PubMed

Maurer, Maria; Ebner, Thomas; Puchner, Manuela; Mayer, Richard Bernhard; Shebl, Omar; Oppelt, Peter; Duba, Hans-Christoph

2015-01-01

Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF) technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. Chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of chromosomal abnormalities in preimplantation embryos with developmental arrest. This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH) with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011. Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic chromosomal complement. Nearly 70% of arrested embryos exhibit chromosomal errors, making chromosomal abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting.

Ocular disease in the guinea pig (Cavia porcellus): a survey of 1000 animals.

PubMed

Williams, David; Sullivan, Ann

2010-09-01

Anecdotal evidence has suggested that guinea pigs have a high prevalence of ocular lesions. Here we undertook a survey of 1000 guinea pigs from populations of animals kept as laboratory animals, breeding show cavies, animals kept as pets and those from rescue and rehoming centers. Each animal was examined to assess for ocular abnormalities. A full ophthalmic examination was performed on each animal with direct and indirect ophthalmoscopy and with slit lamp biomicroscopy. Measurement of tear production using the Schirmer tear test 1 and intraocular pressure using the Tonopen applanation tonometer after topical anesthesia was undertaken in selected animals. Forty-five percent of animals examined had some ocular abnormality. The majority were lens lesions including 17% with cataract and 21% with subclinical lens abnormalities such as nuclear sclerosis. Other abnormalities included conjunctivitis in 4.7% and keratitis in 3.6%. Lipid deposition in conjunctiva was observed in 2.3% of guinea pigs and ciliary body heterotopic bone formation in 0.8% of animals. This study shows a high proportion of eyes with some degree of abnormality in animals otherwise considered healthy. Information on diseases of the guinea pig eye is important given the use of the species as a laboratory rodent and also the number kept as pets and show animals.

Effects of ventilation and sucrose concentrations on the growth and plantlet anatomy of micropropagated persian walnut plants

USDA-ARS?s Scientific Manuscript database

Plantlets grown in conventional tissue culture systems usually encounter physiological and anatomical abnormalities including inability to photosynthesize, low chlorophyll content, open stomata, lack of a cuticle layer in the leaf, abnormal xylem parenchyma etc. Photoautotrophic and photomixotrophic...

Prevention of congenital abnormalities by periconceptional multivitamin supplementation.

PubMed Central

Czeizel, A E

1993-01-01

OBJECTIVE--To study the effect of periconceptional multivitamin supplementation on neural tube defects and other congenital abnormality entities. DESIGN--Randomised controlled trial of supplementation with multivitamins and trace elements. SETTING--Hungarian family planning programme. SUBJECTS--4156 pregnancies with known outcome and 3713 infants evaluated in the eighth month of life. INTERVENTIONS--A single tablet of a multivitamin including 0.8 mg of folic acid or trace elements supplement daily for at least one month before conception and at least two months after conception. MAIN OUTCOME MEASURES--Number of major and mild congenital abnormalities. RESULTS--The rate of all major congenital abnormalities was significantly lower in the group given vitamins than in the group given trace elements and this difference cannot be explained totally by the significant reduction of neural tube defects. The rate of major congenital abnormalities other than neural tube defects and genetic syndromes was 9.0/1000 in pregnancies with known outcome in the vitamin group and 16.6/1000 in the trace element group; relative risk 1.85 (95% confidence interval 1.02 to 3.38); difference, 7.6/1000. The rate of all major congenital abnormalities other than neural tube defects and genetic syndromes diagnosed up to the eighth month of life was 14.7/1000 informative pregnancies in the vitamin group and 28.3/1000 in the trace element group; relative risk 1.95 (1.23 to 3.09); difference, 13.6/1000. The rate of some congenital abnormalities was lower in the vitamin group than in the trace element group but the differences for each group of abnormalities were not significant. CONCLUSIONS--Periconceptional multivitamin supplementation can reduce not only the rate of neural tube defects but also the rate of other major non-genetic syndromatic congenital abnormalities. Further studies are needed to differentiate the chance effect and vitamin dependent effect. PMID:8324432

Visual Impairment Screening at the Geriatric Frailty Clinic for Assessment of Frailty and Prevention of Disability at the Gérontopôle.

PubMed

Soler, V; Sourdet, S; Balardy, L; Abellan van Kan, G; Brechemier, D; Rougé-Bugat, M E; Tavassoli, N; Cassagne, M; Malecaze, F; Nourhashémi, F; Vellas, B

2016-01-01

To evaluate visual performance and factors associated with abnormal vision in patients screened for frailty at the Geriatric Frailty Clinic (GFC) for Assessment of Frailty and Prevention of Disability at Toulouse University Hospital. Retrospective, observational cross-sectional, single-centre study. Institutional practice. Patients were screened for frailty during a single-day hospital stay between October 2011 and October 2014 (n = 1648). Collected medical records included sociodemographic data (including living environment and educational level), anthropometric data, and clinical data. The general evaluation included the patient's functional status using the Activities of Daily Living (ADL) scale and the Instrumental Activity of Daily Living (IADL) scale, the Mini-Mental State Examination (MMSE) for cognition testing, and the Short Physical Performance Battery (SPPB) for physical performance. We also examined Body Mass Index (BMI), the Mini-Nutritional Assessment (MNA), and the Hearing Handicap Inventory for the Elderly Screening (HHIE-S) tool. The ophthalmologic evaluation included assessing visual acuity using the Snellen decimal chart for distant vision, and the Parinaud chart for near vision. Patients were divided into groups based on normal distant/near vision (NDV and NNV groups) and abnormal distant/near vision (ADV and ANV groups). Abnormal distant or near vision was defined as visual acuity inferior to 20/40 or superior to a Parinaud score of 2, in at least one eye. Associations with frailty-associated factors were evaluated in both groups. The mean age of the population was 82.6 ± 6.2 years. The gender distribution was 1,061 females (64.4%) and 587 males (35.6%). According to the Fried criteria, 619 patients (41.1%) were pre-frail and 771 (51.1%) were frail. Distant and near vision data were available for 1425 and 1426 patients, respectively. Distant vision was abnormal for 437 patients (30.7%). Near vision was abnormal for 199 patients (14%). Multiple regression analysis showed that abnormal distant vision as well as abnormal near vision were independently associated with greater age (P < 0.01), lower educational level (P < 0.05), lower performance on the MMSE (P < 0.001), and lower autonomy (P < 0.02), after controlling for age, gender, educational level, Fried criteria, and MMSE score. The high prevalence of visual disorders observed in the study population and their association with lower autonomy and cognitive impairment emphasises the need for systematic screening of visual impairments in the elderly. Frailty was not found to be independently associated with abnormal vision.

Structural Abnormalities on Magnetic Resonance Imaging in Patients With Patellofemoral Pain: A Cross-sectional Case-Control Study.

PubMed

van der Heijden, Rianne A; de Kanter, Janneke L M; Bierma-Zeinstra, Sita M A; Verhaar, Jan A N; van Veldhoven, Peter L J; Krestin, Gabriel P; Oei, Edwin H G; van Middelkoop, Marienke

2016-09-01

Structural abnormalities of the patellofemoral joint might play a role in the pathogenesis of patellofemoral pain (PFP), a common knee problem among young and physically active individuals. No previous study has investigated if PFP is associated with structural abnormalities of the patellofemoral joint using high-resolution magnetic resonance imaging (MRI). To investigate the presence of structural abnormalities of the patellofemoral joint on high-resolution MRI in patients with PFP compared with healthy control subjects. Cross-sectional study; Level of evidence, 3. Patients with PFP and healthy control subjects between 14 and 40 years of age underwent high-resolution 3-T MRI. All images were scored using the Magnetic Resonance Imaging Osteoarthritis Knee Score with the addition of specific patellofemoral features. Associations between PFP and the presence of structural abnormalities were analyzed using logistic regression analyses adjusted for age, body mass index (BMI), sex, and sports participation. A total of 64 patients and 70 control subjects were included in the study. Mean ± SD age was 23.2 ± 6.4 years, mean BMI ± SD was 22.9 ± 3.4 kg/m(2), and 56.7% were female. Full-thickness cartilage loss was not present. Minor patellar cartilage defects, patellar bone marrow lesions, and high signal intensity of the Hoffa fat pad were frequently seen in both patients (23%, 53%, and 58%, respectively) and control subjects (21%, 51%, and 51%, respectively). After adjustment for age, BMI, sex, and sports participation, none of the structural abnormalities were statistically significantly associated with PFP. Structural abnormalities of the patellofemoral joint have been hypothesized as a factor in the pathogenesis of PFP, but the study findings suggest that structural abnormalities of the patellofemoral joint on MRI are not associated with PFP. © 2016 The Author(s).

Positional Magnetic Resonance Imaging for People With Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities: An Evidence-Based Analysis

PubMed Central

2015-01-01

Background Ehlers-Danlos syndrome (EDS) is an inherited disorder affecting the connective tissue. EDS can manifest with symptoms attributable to the spine or craniovertebral junction (CVJ). In addition to EDS, numerous congenital, developmental, or acquired disorders can increase ligamentous laxity in the CVJ and cervical spine. Resulting abnormalities can lead to morbidity and serious neurologic complications. Appropriate imaging and diagnosis is needed to determine patient management and need for complex surgery. Some spinal abnormalities cause symptoms or are more pronounced while patients sit, stand, or perform specific movements. Positional magnetic resonance imaging (pMRI) allows imaging of the spine or CVJ with patients in upright, weight-bearing positions and can be combined with dynamic maneuvers, such as flexion, extension, or rotation. Imaging in these positions could allow diagnosticians to better detect spinal or CVJ abnormalities than recumbent MRI or even a combination of other available imaging modalities might allow. Objectives To determine the diagnostic impact and clinical utility of pMRI for the assessment of (a) craniovertebral or spinal abnormalities among people with EDS and (b) major craniovertebral or cervical spine abnormalities among symptomatic people. Data Sources A literature search was performed using Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid Embase, and EBM Reviews, for studies published from January 1, 1998, to September 28, 2014. Review Methods Studies comparing pMRI to recumbent MRI or other available imaging modalities for diagnosis and management of spinal or CVJ abnormalities were reviewed. All studies of spinal or CVJ imaging in people with EDS were included as well as studies among people with suspected major CVJ or cervical spine abnormalities (cervical or craniovertebral spine instability, basilar invagination, cranial settling, cervical stenosis, spinal cord compression, Chiari malformation). Results No studies were identified that met the inclusion criteria. Conclusions We did not identify any evidence that assessed the diagnostic impact or clinical utility of pMRI for (a) craniovertebral or spinal abnormalities among people with EDS or (b) major craniovertebral or cervical spine abnormalities among symptomatic people relative to currently available diagnostic modalities. PMID:26366238

Abnormal branching and regression of the notochord and its relationship to foregut abnormalities.

PubMed

Vleesch Dubois, V N; Quan Qi, B; Beasley, S W; Williams, A

2002-04-01

An abnormally positioned notochord has been reported in embryos that develop foregut abnormalities, vertebral defects and other abnormalities of the VATER association. This study examines the patterns of regression of the abnormal notochord in the rat model of the VATER association and investigates the relationship between developmental abnormalities of the notochord and those of the vertebra and foregut. Timed-pregnant Sprague-Dawley rats were given daily intraperitoneal injections of 1.75 mg/kg adriamycin on gestational days 6 - 9 inclusive. Rats were sacrificed between days 14 and 20 and their embryos harvested, histologically sectioned and stained and examined serially. The location and appearance of the degenerating notochord and its relationship to regional structural defects were analysed. All 26 embryos exposed to adriamycin developed foregut abnormalities and had an abnormal notochord. The notochord disappeared by a process of apoptotic degeneration that lagged behind that of the normal embryo: the notochord persisted in the abnormal embryo beyond day 17, whereas in the normal rat it had already disappeared. Similarly, formation of the nucleus pulposus was delayed. Vertebral abnormalities occurred when the notochord was ventrally-positioned. The notochord disappears during day 16 in the normal embryo whereas abnormal branches of the notochord persist until day 19 in the adriamycin-treated embryo. Degeneration of the notochord is dominated by apoptosis. An excessively ventrally-placed notochord is closely associated with abnormalities of the vertebral column, especially hemivertebrae.

Abnormal duodenal [HCO3-] following secretin stimulation develops sooner than endocrine insufficiency in minimal change chronic pancreatitis.

PubMed

Pelley, Joshua R; Gordon, Stuart R; Gardner, Timothy B

2012-04-01

Direct pancreatic function tests (PFTs) are often used to diagnose chronic pancreatitis (CP). We aimed to determine the temporal relationship between an abnormal PFT result, cross-sectional imaging, and clinical symptoms. All patients referred for endoscopic ultrasound (EUS) and PFT for suspected CP at our medical center from 2008 to 2010 were included. Each subject underwent EUS and PFT on the same day using secretin stimulation. Seventeen patients had duodenal HCO3 values of less than 80 mEq/L and were labeled as abnormal; the 25 other patients had at least 1 duodenal HCO3 values of 80 mEq/L or greater. Patients with abnormal PFTs had more parenchymal (2.0 vs 0.92, P = 0.012), ductal (1.18 vs 0.6, P = 0.036), and total features (3.18 vs 1.52, P = 0.009) than those with normal PFTs on EUS examination. There was no difference in regard to the frequency of abnormal CT scans (25% vs 15%, P = 0.139), diarrhea (67% vs 60%, P = 0.463), fat-soluble vitamin deficiency (33% vs 26%, P = 0.315), or diabetes (10% vs 4%, P = 0.066). Patients with equivocal imaging and abnormally low duodenal HCO3 have more EUS features of CP than do patients with normal duodenal HCO3 values, suggesting that low duodenal HCO3 values are among the first measurable abnormalities in CP.

Role of "Sural Sparing" Pattern (Absent/Abnormal Median and Ulnar with Present Sural SNAP) Compared to Absent/Abnormal Median or Ulnar with Normal Sural SNAP in Acute Inflammatory Demyelinating Polyneuropathy.

PubMed

Surpur, Spurthi Sunil; Govindarajan, Raghav

2017-01-01

Sural sparing defined as absent/abnormal median sensory nerve action potential (SNAP) amplitude or absent/abnormal ulnar SNAP amplitude with a normal sural SNAP amplitude is thought to be a marker for inflammatory demyelinating polyneuropathies. If sural sparing pattern specifically defined as absent/abnormal median and ulnar SNAP amplitude with normal sural SNAP amplitude (AMUNS) is sensitive and specific when compared with either absent/abnormal median and normal sural (AMNS) or absent/abnormal ulnar and normal sural (AUNS) for acute inflammatory demyelinating polyneuropathy (AIDP), chronic inflammatory demyelinating polyneuropathy (CIDP), select non-diabetic axonopathies (AXPs), and diabetic neuropathies (DNs). Retrospective analysis from 2001 to 2010 on all newly diagnosed AIDP, CIDP, select non-diabetic AXP, and DN. There were 20 AIDP and 23 CIDP. Twenty AXP and 50 DN patients between 2009 and 2010 were included as controls. AMUNS was seen in 65% of AIDP, 39% CIDP compared with 10% of AXP and 6% for DN with sensitivity of 51%, specificity of 92%, whereas the specificity of AMNS/AUNS was 73% and its sensitivity was 58%. If a patient has AMUNS they are >12 times more likely to have AIDP ( p  < 0.001). Sural sparing is highly specific but not sensitive when compared with either AMNS or AUNS in AIDP but does not add to sensitivity or specificity in CIDP.

Anterior segment photography in pediatric eyes using the Lytro light field handheld noncontact camera.

PubMed

Marcus, Inna; Tung, Irene T; Dosunmu, Eniolami O; Thiamthat, Warakorn; Freedman, Sharon F

2013-12-01

To compare anterior segment findings identified in young children using digital photographic images from the Lytro light field camera to those observed clinically. This was a prospective study of children <9 years of age with an anterior segment abnormality. Clinically observed anterior segment examination findings for each child were recorded and several digital images of the anterior segment of each eye captured with the Lytro camera. The images were later reviewed by a masked examiner. Sensitivity of abnormal examination findings on Lytro imaging was calculated and compared to the clinical examination as the gold standard. A total of 157 eyes of 80 children (mean age, 4.4 years; range, 0.1-8.9) were included. Clinical examination revealed 206 anterior segment abnormalities altogether: lids/lashes (n = 21 eyes), conjunctiva/sclera (n = 28 eyes), cornea (n = 71 eyes), anterior chamber (n = 14 eyes), iris (n = 43 eyes), and lens (n = 29 eyes). Review of Lytro photographs of eyes with clinically diagnosed anterior segment abnormality correctly identified 133 of 206 (65%) of all abnormalities. Additionally, 185 abnormalities in 50 children were documented at examination under anesthesia. The Lytro camera was able to document most abnormal anterior segment findings in un-sedated young children. Its unique ability to allow focus change after image capture is a significant improvement on prior technology. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

PubMed

Testa, Francesco; Melillo, Paolo; Rossi, Settimio; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Brunetti-Pierri, Raffaella; Donati, Simone; Azzolini, Claudio; Marciano, Elio; Simonelli, Francesca

2018-01-01

To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH). Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2. Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.

Impact of genetic abnormalities after allogeneic stem cell transplantation in multiple myeloma: a report of the Société Française de Greffe de Moelle et de Thérapie Cellulaire.

PubMed

Roos-Weil, Damien; Moreau, Philippe; Avet-Loiseau, Hervé; Golmard, Jean-Louis; Kuentz, Mathieu; Vigouroux, Stéphane; Socié, Gérard; Furst, Sabine; Soulier, Jean; Le Gouill, Steven; François, Sylvie; Thiebaut, Anne; Buzyn, Agnès; Maillard, Natacha; Yakoub-Agha, Ibrahim; Raus, Nicole; Fermand, Jean-Paul; Michallet, Mauricette; Blaise, Didier; Dhédin, Nathalie

2011-10-01

The impact of cytogenetic abnormalities in multiple myeloma after allogeneic stem cell transplantation has not been clearly defined. This study examines whether allogeneic stem cell transplantation could be of benefit for myeloma patients with high-risk cytogenetic abnormalities. This is a retrospective multicenter analysis of the registry of the Société Française de Greffe de Moelle et de Thérapie Cellulaire, including 143 myeloma patients transplanted between 1999 and 2008. The incidences of cytogenetic abnormalities were 59% for del(13q), 25% for t(4;14), 25% for del(17p) and 4% for t(14;16). When comparing the population carrying an abnormality to that without the same abnormality, no significant difference was found in progression-free survival, overall survival or progression rate. Patients were grouped according to the presence of any of the poor prognosis cytogenetic abnormalities t(4;14), del(17p) or t(14;16) (n=53) or their absence (n=32). No difference in outcomes was observed between these two groups: the 3-year progression-free survival, overall survival and progression rates were 30% versus 17% (P=0.9), 45% versus 39% (P=0.8) and 53% versus 75% (P=0.9), respectively. These data indicate that allogeneic stem cell transplantation could potentially be of benefit to high-risk myeloma patients.

[The effection of white matter abnormality to auditory and speech rehabilitation after cochlear implantation in prelingual deafness children].

PubMed

Zhang, X Y; Liang, M J; Liu, J H; Li, X H; Zhen, Y Q; Weng, Y L

2017-04-20

Objective: To investigatethe effection of white matter abnormality to auditory and speech rehabilitation after cochlear implantation in prelingual deafness children. Method: Thirty-five children with white matter abnormality were included in this study. The degree of leukoaraiosis was evaluated by Scheltens scale based on MRI.The hearing and speechrecovery level was rated by auditory behavior grading standards(CAP) and speech intelligibility grading standards(SIR) at 6 months, 12 months, and 24 months post operation. Result: The CAP scores and SIR scores of the children with white matter abnormality were lower than those of the control group at 6 months after operation ( P <0.05).The SIR scores of the children with white matter abnormality at 12 months and 24 months post operation were significantly lower than those of the control group.There was no statistically significant difference between the CAP scores of the two groups at 12 and 24 months after operation( P >0.05).Schelten classification had a greater impact on SIR scores than on CAP scores. Conclusion: The effect of white matter abnormality on auditory and speech rehabilitation after cochlear implantation was related to the degree of leukoencephalopathy. When the lesion of white matter abnormality was larger, the level of hearing and verbal rehabilitation was lower, and the speech rehabilitation was more significantly impacted by white matter lesions degree. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Idiopathic liver function test abnormality in pregnancy is associated with assisted reproduction techniques.

PubMed

Kopylov, Uri; Avidan, Benjamin; Papageorgiou, Neofytos P; Katz, Lior H; Sivan, Eyal; Zimlichman, Eyal; Hussein, Haya; Maor, Yaakov

2013-02-01

To examine the prevalence, etiology, risk factors, and outcomes of liver abnormality in pregnancy, in a tertiary medical center, and to study the potential impact of artificial reproduction techniques (ART) on the incidence and the outcome of pregnancy-related liver abnormality. A retrospective case-control study using an electronic database and patients' files. Tertiary referral center. Women in the third trimester of pregnancy who were hospitalized for delivery. None. Development of significant elevation of alanine aminotransferase (ALT ≥ 100 IU/L). Secondary outcomes included development of maternal and fetal complications. The upper limit of normal of ALT was ≥ 1.5 times and it occurred in 440 (1.6%) pregnancies; of those, 228 (0.8%) had ALT ≥ 100 IU/L. The etiology of significant liver test abnormality was idiopathic in 47% of patients. Compared with spontaneous pregnancies (295/23,793), ART was significantly associated with liver test abnormality (145/4, 520). The presence of ALT ≥ 100 IU/L in the third trimester was associated with higher rates of cesarean sections, prematurity, low birthweight, and fetal complications. A definite etiology was not determined in about half of pregnancy-associated liver test abnormality. The ART was significantly associated with liver test elevation. Significant liver test abnormality in the third trimester may have an impact on maternal and fetal/neonatal outcomes. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Single-fiber Electromyography in the Extensor Digitorum Communis for the Predictive Prognosis of Ocular Myasthenia Gravis: A Retrospective Study of 102 Cases.

PubMed

Guan, Yu-Zhou; Cui, Li-Ying; Liu, Ming-Sheng; Niu, Jing-Wen

2015-10-20

Single-fiber electromyography (SFEMG) abnormality in the extensor digitorum communis (EDC) was reported in ocular myasthenia gravis (OMG), which indicated subclinical involvement beyond extraocular muscles in OMG patients. The relationship between the abnormal findings of SFEMG in EDC and the probability for OMG to develop generalized myasthenia gravis (GMG) is unknown. This retrospective study aimed to determine the predictive value of abnormality of SFEMG in EDC of OMG patients. One-hundred and two OMG patients underwent standard clinical diagnosis process and SFEMG test in EDC muscle when diagnosed and were clinically followed up for 5 years. The SFEMG data were compared between different clinical groups according to thymus status, onset age, and different outcome of OMG developing. Chances of progressing to GMG were compared between two different groups according to SFEMG and repetitive nerve stimulation (RNS) results, acetylcholine receptor antibody (AchRAb) titer, thymus status, and onset age. Abnormal SFEMG results were observed in 84 (82.4%) patients. The mean jitter, percentage of jitter >55 μs (%), and blocking were higher in OMG patients than in healthy volunteers. There were no statistical differences in jitter analysis between thymoma group and non-thymoma group (P = 0.65), or between the later OMG group and the later GMG group (P = 0.31), including mean jitter, percentage of jitter >55 μs (%), and blocking. Elderly group (≥45 years old) had a higher mean jitter than younger group (t = 2.235, P = 0.028). Total 55 OMG developed GMG, including 47 in abnormal SFEMG group while 8 in normal SFEMG group. There was no statistical difference in the conversion rates between the two groups (χ2 = 0.790, P = 0.140). RNS abnormality, AchRab titer, or onset age had no correlation with OMG prognosis (P = 0.150, 0.070, 0.120, respectively) while thymoma did (χ2 = 0.510, P = 0.020). SFEMG test in the EDC showed high abnormality in OMG, suggesting subclinical involvement other than extraocular muscles. Nevertheless, the abnormal jitter analysis did not predict the prognosis of OMG according to clinical follow-up.

Single-fiber Electromyography in the Extensor Digitorum Communis for the Predictive Prognosis of Ocular Myasthenia Gravis: A Retrospective Study of 102 Cases

PubMed Central

Guan, Yu-Zhou; Cui, Li-Ying; Liu, Ming-Sheng; Niu, Jing-Wen

2015-01-01

Background: Single-fiber electromyography (SFEMG) abnormality in the extensor digitorum communis (EDC) was reported in ocular myasthenia gravis (OMG), which indicated subclinical involvement beyond extraocular muscles in OMG patients. The relationship between the abnormal findings of SFEMG in EDC and the probability for OMG to develop generalized myasthenia gravis (GMG) is unknown. This retrospective study aimed to determine the predictive value of abnormality of SFEMG in EDC of OMG patients. Methods: One-hundred and two OMG patients underwent standard clinical diagnosis process and SFEMG test in EDC muscle when diagnosed and were clinically followed up for 5 years. The SFEMG data were compared between different clinical groups according to thymus status, onset age, and different outcome of OMG developing. Chances of progressing to GMG were compared between two different groups according to SFEMG and repetitive nerve stimulation (RNS) results, acetylcholine receptor antibody (AchRAb) titer, thymus status, and onset age. Results: Abnormal SFEMG results were observed in 84 (82.4%) patients. The mean jitter, percentage of jitter >55 μs (%), and blocking were higher in OMG patients than in healthy volunteers. There were no statistical differences in jitter analysis between thymoma group and non-thymoma group (P = 0.65), or between the later OMG group and the later GMG group (P = 0.31), including mean jitter, percentage of jitter >55 μs (%), and blocking. Elderly group (≥45 years old) had a higher mean jitter than younger group (t = 2.235, P = 0.028). Total 55 OMG developed GMG, including 47 in abnormal SFEMG group while 8 in normal SFEMG group. There was no statistical difference in the conversion rates between the two groups (χ2 = 0.790, P = 0.140). RNS abnormality, AchRab titer, or onset age had no correlation with OMG prognosis (P = 0.150, 0.070, 0.120, respectively) while thymoma did (χ2 = 0.510, P = 0.020). Conclusion: SFEMG test in the EDC showed high abnormality in OMG, suggesting subclinical involvement other than extraocular muscles. Nevertheless, the abnormal jitter analysis did not predict the prognosis of OMG according to clinical follow-up. PMID:26481746

Breast thermography is a noninvasive prognostic procedure that predicts tumor growth rate in breast cancer patients.

PubMed

Head, J F; Wang, F; Elliott, R L

1993-11-30

Our recent retrospective analysis of the clinical records of patients who had breast thermography demonstrated that an abnormal thermogram was associated with an increased risk of breast cancer and a poorer prognosis for the breast cancer patient. This study included 100 normal patients, 100 living cancer patients, and 126 deceased cancer patients. Abnormal thermograms included asymmetric focal hot spots, areolar and periareolar heat, diffuse global heat, vessel discrepancy, or thermographic edge sign. Incidence and prognosis were directly related to thermographic results: only 28% of the noncancer patients had an abnormal thermogram, compared to 65% of living cancer patients and 88% of deceased cancer patients. Further studies were undertaken to determine if thermography is an independent prognostic indicator. Comparison to the components of the TNM classification system showed that only clinical size was significantly larger (p = 0.006) in patients with abnormal thermograms. Age, menopausal status, and location of tumor (left or right breast) were not related to thermographic results. Progesterone and estrogen receptor status was determined by both the cytosol-DCC and immunocytochemical methods, and neither receptor status showed any clear relationship to the thermographic results. Prognostic indicators that are known to be related to tumor growth rate were then compared to thermographic results. The concentration of ferritin in the tumor was significantly higher (p = 0.021) in tumors from patients with abnormal thermograms (1512 +/- 2027, n = 50) compared to tumors from patients with normal thermograms (762 +/- 620, n = 21). Both the proportion of cells in DNA synthesis (S-phase) and proliferating (S-phase plus G2M-phase, proliferative index) were significantly higher in patients with abnormal thermograms. The expression of the proliferation-associated tumor antigen Ki-67 was also associated with an abnormal thermogram. The strong relationships of thermographic results with these three growth rate-related prognostic indicators suggest that breast cancer patients with abnormal thermograms have faster-growing tumors that are more likely to have metastasized and to recur with a shorter disease-free interval.

Hypopituitarism in pediatric survivors of inflicted traumatic brain injury.

PubMed

Auble, Bethany A; Bollepalli, Sureka; Makoroff, Kathi; Weis, Tammy; Khoury, Jane; Colliers, Tracy; Rose, Susan R

2014-02-15

Endocrine dysfunction is common after accidental traumatic brain injury (TBI). Prevalence of endocrine dysfunction after inflicted traumatic brain injury (iTBI) is not known. The aim of this study was to examine endocrinopathy in children after moderate-to-severe iTBI. Children with previous iTBI (n=14) were evaluated for growth/endocrine dysfunction, including anthropometric measurements and hormonal evaluation (nocturnal growth hormone [GH], thyrotropin surge, morning and low-dose adrenocorticotropin stimulated cortisol, insulin-like growth factor 1, IGF-binding protein 3, free thyroxine, prolactin [PRL], and serum/urine osmolality). Analysis used Fisher's exact test and Wilcoxon's rank-sum test, as appropriate. Eighty-six percent of subjects had endocrine dysfunction with at least one abnormality, whereas 50% had two or more abnormalities, significantly increased compared to an estimated 2.5% with endocrine abnormality in the general population (p<0.001). Elevated prolactin was common (64%), followed by abnormal thyroid function (33%), short stature (29%), and low GH peak (17%). High prolactin was common in subjects with other endocrine abnormalities. Two were treated with thyroid hormone and 2 may require GH therapy. In conclusion, children with a history of iTBI show high risk for endocrine dysfunction, including elevated PRL and growth abnormalities. This effect of iTBI has not been well described in the literature. Larger, multi-center, prospective studies would provide more data to determine the extent of endocrine dysfunction in iTBI. We recommend that any child with a history of iTBI be followed closely for growth velocity and pubertal changes. If growth velocity is slow, PRL level and a full endocrine evaluation should be performed.

Using K-Nearest Neighbor Classification to Diagnose Abnormal Lung Sounds

PubMed Central

Chen, Chin-Hsing; Huang, Wen-Tzeng; Tan, Tan-Hsu; Chang, Cheng-Chun; Chang, Yuan-Jen

2015-01-01

A reported 30% of people worldwide have abnormal lung sounds, including crackles, rhonchi, and wheezes. To date, the traditional stethoscope remains the most popular tool used by physicians to diagnose such abnormal lung sounds, however, many problems arise with the use of a stethoscope, including the effects of environmental noise, the inability to record and store lung sounds for follow-up or tracking, and the physician’s subjective diagnostic experience. This study has developed a digital stethoscope to help physicians overcome these problems when diagnosing abnormal lung sounds. In this digital system, mel-frequency cepstral coefficients (MFCCs) were used to extract the features of lung sounds, and then the K-means algorithm was used for feature clustering, to reduce the amount of data for computation. Finally, the K-nearest neighbor method was used to classify the lung sounds. The proposed system can also be used for home care: if the percentage of abnormal lung sound frames is > 30% of the whole test signal, the system can automatically warn the user to visit a physician for diagnosis. We also used bend sensors together with an amplification circuit, Bluetooth, and a microcontroller to implement a respiration detector. The respiratory signal extracted by the bend sensors can be transmitted to the computer via Bluetooth to calculate the respiratory cycle, for real-time assessment. If an abnormal status is detected, the device will warn the user automatically. Experimental results indicated that the error in respiratory cycles between measured and actual values was only 6.8%, illustrating the potential of our detector for home care applications. PMID:26053756

Incidence of abnormal offspring from cloning and other assisted reproductive technologies.

PubMed

Hill, Jonathan R

2014-02-01

In animals produced by assisted reproductive technologies, two abnormal phenotypes have been characterized. Large offspring syndrome (LOS) occurs in offspring derived from in vitro cultured embryos, and the abnormal clone phenotype includes placental and fetal changes. LOS is readily apparent in ruminants, where a large calf or lamb derived from in vitro embryo production or cloning may weigh up to twice the expected body weight. The incidence of LOS varies widely between species. When similar embryo culture conditions are applied to nonruminant species, LOS either is not as dramatic or may even be unapparent. Coculture with serum and somatic cells was identified in the 1990s as a risk factor for abnormal development of ruminant pregnancies. Animals cloned from somatic cells may display a combination of fetal and placental abnormalities that are manifested at different stages of pregnancy and postnatally. In highly interventional technologies, such as nuclear transfer (cloning), the incidence of abnormal offspring continues to be a limiting factor to broader application of the technique. This review details the breadth of phenotypes found in nonviable pregnancies, together with the phenotypes of animals that survive the transition to extrauterine life. The focus is on animals produced using in vitro embryo culture and nuclear transfer in comparison to naturally occurring phenotypes.

Lung functions among patients with pulmonary tuberculosis in Dar es Salaam - a cross-sectional study.

PubMed

Manji, Mohamed; Shayo, Grace; Mamuya, Simon; Mpembeni, Rose; Jusabani, Ahmed; Mugusi, Ferdinand

2016-04-23

Approximately 40-60 % of patients remain sufferers of sequela of obstructive, restrictive or mixed patterns of lung disease despite treatment for pulmonary tuberculosis (PTB). The prevalence of these abnormalities in Tanzania remains unknown. A descriptive cross-sectional study was carried out among 501 patients with PTB who had completed at least 20 weeks of treatment. These underwent spirometry and their lung functions were classified as normal or abnormal (obstructive, restrictive or mixed). Logistic regression models were used to explore factors associated with abnormal lung functions. Abnormal lung functions were present in 371 (74 %) patients. There were 210 (42 %) patients with obstructive, 65 (13 %) patients with restrictive and 96 (19 %) patients with mixed patterns respectively. Significant factors associated with abnormal lung functions included recurrent PTB (Adj OR 2.8, CI 1.274 - 6.106), Human Immunodeficiency Virus (HIV) negative status (Adj OR 1.7, CI 1.055 - 2.583), age more than 40 years (Adj OR 1.7, CI 1.080 - 2.804) and male sex (Adj OR 1.7, CI 1.123 - 2.614). The prevalence of abnormal lung functions is high and it is associated with male sex, age older than 40 years, recurrent PTB and HIV negative status.

Outcome of chromosomally abnormal pregnancies in Lebanon: obstetricians' roles during and after prenatal diagnosis.

PubMed

Eldahdah, Lama T; Ormond, Kelly E; Nassar, Anwar H; Khalil, Tayma; Zahed, Laila F

2007-06-01

To better understand obstetrician experiences in Lebanon when disclosing abnormal amniocentesis results. Structured interviews with 38 obstetricians identified as caregivers from the American University of Beirut Medical Center Cytogenetics Laboratory database of patients with abnormal amniocentesis results between 1999 and 2005. Obstetricians were primarily male, Christian, and with an average of 14 years of experience. They reported doing most pre-amniocentesis counseling, including discussion of risk for common autosomal aneuplodies (95%), and procedure-related risk (95%). Obstetricians reported that 80% of patients at risk for aneuploidy underwent amniocentesis. The study population reported on 143 abnormal test results (124 autosomal abnormalities). When disclosing results, obstetricians reportedly discussed primarily physical and cognitive features of the diagnosis. They varied in levels of directiveness and comfort in providing information. Our records showed that 59% of pregnancies with sex chromosome abnormalities were terminated compared to 90% of those with autosomal aneuploidies; various reasons were proposed by obstetricians. This study is among the few to assess prenatal diagnosis practices in the Middle East, with a focus on the role of the obstetrician. Given the influence of culture and social norms on prenatal decision-making, it remains important to understand the various impacts on clinical practice in many nations. (c) 2007 John Wiley & Sons, Ltd.

Can Decision Making Research Provide a Better Understanding of Chemical and Behavioral Addictions?

PubMed

Engel, Anzhelika; Cáceda, Ricardo

2015-01-01

We reviewed the cognitive and neurobiological commonalities between chemical and behavioral addictions. Poor impulse control, limited executive function and abnormalities in reward processing are seen in both group of entities. Brain imaging shows consistent abnormalities in frontoparietal regions and the limbic system. In drug addiction, exaggerated risk taking behavior and temporal discounting may reflect an imbalance between a hyperactive mesolimbic and hypoactive executive systems. Several cognitive distortions are found in pathological gambling that seems to harness the brain reward system that has evolved to face situations related to skill, not random chance. Abnormalities in risk assessment and impulsivity are found in variety of eating disorders, in particularly related to eating behavior. Corresponding findings in eating disorder patients include abnormalities in the limbic system, i.e. orbitofrontal cortex (OFC), striatum and insula. Similarly, internet addiction disorder is associated with risky decision making and increased choice impulsivity with corresponding discrepant activation in the dorsolateral prefrontal cortex, OFC, anterior cingulate cortex, caudate and insula. Sexual addictions are in turn associated with exaggerated impulsive choice and suggestive evidence of abnormalities in reward processing. In sum, exploration of executive function and decision making abnormalities in chemical and behavioral addictions may increase understanding in their psychopathology and yield valuable targets for therapeutic interventions.

CT Arthrography and Virtual Arthroscopy in the Diagnosis of the Anterior Cruciate Ligament and Meniscal Abnormalities of the Knee Joint

PubMed Central

Lee, Whal; Kim, Ho Sung; Kim, Seok Jung; Kim, Hyung Ho; Chung, Jin Wook; Kang, Heung Sik; Choi, Ja-Young

2004-01-01

Objective To determine the diagnostic accuracy of CT arthrography and virtual arthroscopy in the diagnosis of anterior cruciate ligament and meniscus pathology. Materials and Methods Thirty-eight consecutive patients who underwent CT arthrography and arthroscopy of the knee were included in this study. The ages of the patients ranged from 19 to 52 years and all of the patients were male. Sagittal, coronal, transverse and oblique coronal multiplanar reconstruction images were reformatted from CT arthrography. Virtual arthroscopy was performed from 6 standard views using a volume rendering technique. Three radiologists analyzed the MPR images and two orthopedic surgeons analyzed the virtual arthroscopic images. Results The sensitivity and specificity of CT arthrography for the diagnosis of anterior cruciate ligament abnormalities were 87.5%-100% and 93.3-96.7%, respectively, and those for meniscus abnormalities were 91.7%-100% and 98.1%, respectively. The sensitivity and specificity of virtual arthroscopy for the diagnosis of anterior cruciate ligament abnormalities were 87.5% and 83.3-90%, respectively, and those for meniscus abnormalities were 83.3%-87.5% and 96.1-98.1%, respectively. Conclusion CT arthrography and virtual arthroscopy showed good diagnostic accuracy for anterior cruciate ligament and meniscal abnormalities. PMID:15064559

Inspection and Analysis of Failed Transmissions

DTIC Science & Technology

2009-01-01

ABNORMAL WEAR FRONT PUMP NO ABNORMAL DETERIORATION OR WEAR, 60% PHOSPHATE COATING REMAINING ON PUMP GEAR TEETH CARRIERS AND GEARS NO ABNORMAL DETERIORATION...PHOSPHATE COATING REMAINING ON PUMP GEAR TEETH CARRIERS AND GEARS NO ABNORMAL DETERIORATION OR WEAR, SOME POLISHING ON GEAR TEETH SEALS SOFT AND PLIABLE...FRONT PUMP NO ABNORMAL DETERIORATION OR WEAR, ALL PHOSPHATE COATING REMAINING ON PUMP GEAR TEETH CARRIERS AND GEARS NO ABNORMAL DETERIORATION OR WEAR

[Non-linear canonical correlation analysis between anthropometric indicators and multiple metabolic abnormalities].

PubMed

Fu, Xiaoli; Liu, Li; Ping, Zhiguang; Li, Linlin

2013-09-01

To define the general correlation between anthropometric indicators and multiple metabolic abnormalities, and to put forward some particular suggestions for the prevention of multiple metabolic abnormalities. A random cluster sampling was carried out in one county of Henan Province. Questionnaire, physical examination and biochemical tests were admitted to the adult inhabitants. Non-linear canonical correlation analysis (NLCCA) was applied with OVERALS of SPSS 13.0. The coefficients of canonical correlation and multiple correlation were calculated. The plot of centroids labeled by variables showed the correlation among various indicators. In total, 2,914 objects were investigated. It included 1,134 (38.9%) males and 1,780 (61.1%) females (60.0%). The average age was (50.58 +/- 13.70) years old. The fitting result of NLCCA were as follows: the loss of 0.577 accounting for 28.8% of the total variation was relatively small, and indicated that the two sets of variables of this study, namely sets of biochemical indicators (including serum total cholesterol, total triglyceride, high-density lipoprotein cholesterol, low density lipoprotein cholesterol and fasting plasma glucose) and sets of others (including gender, BMI and waist circumference) were closely related and often changed synchronously. Multivariate correlation coefficient showed that internal indicators of the above two sets were closely related respectively and often showed the multiple anomalies of the same set. The diagram of the center of gravity of the association of various indicators showed that the symptoms of metabolic abnormalities increased with age. Women were more liable to have metabolic abnormalities. Overweight and obese people often suffer multiple metabolic disorders. Waist circumference was positively correlated with metabolic abnormalities. (1) Biochemical indicators and anthropometric often change in combination. (2) Much attention should be paid to older people especially middle-aged or older men and older women in primary prevention. (3) Overweight and abdominal obesity can be considered the sensitive predictive indicator of multiple metabolic abnormalities. (4) Nonlinear canonical correlation and center of gravity Figure had the advantage of analyze the correlation between multiple sets of variables.

Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta-analysis.

PubMed

Pagani, G; Thilaganathan, B; Prefumo, F

2014-09-01

The finding of fetal ventriculomegaly is variably associated with other fetal abnormalities and, even when isolated, is thought to be linked to abnormal neurodevelopmental outcome. The aim of this study was to undertake a systematic review and meta-analysis of the current literature to assess the prevalence of neurodevelopmental delay in cases of isolated mild fetal ventriculomegaly, as well as the false-negative rate of prenatal imaging for the diagnosis of associated abnormalities in patients referred for isolated mild ventriculomegaly. Studies that assessed neurodevelopmental outcome in isolated ventriculomegaly were identified from a search of scientific databases. Studies that did not check for karyotype or that excluded cases of bilateral ventriculomegaly were not included in the analysis. Ventriculomegaly was defined as mild when the width of the ventricular atrium was between 10 and 15 mm. Cases in which an associated abnormality (abnormal karyotype, structural abnormality or fetal infection) was observed either before or after birth were not considered as part of the isolated group. Neurodevelopmental delay was defined as an abnormal quotient score, according to the test used. The search yielded 961 possible citations; of these, 904 were excluded by review of the title or abstract as they did not meet the selection criteria. Full manuscripts were retrieved for 57 studies, and 20 were included in the review with a total of 699 cases of isolated mild ventriculomegaly. The overall prevalence of neurodevelopmental delay was 7.9% (95% CI, 4.7-11.1%). Of the 20 studies included in the systematic review, nine reported data on postnatal imaging, showing a prevalence of previously undiagnosed findings of 7.4% (95% CI, 3.1-11.8%). The false-negative rate of prenatal imaging is 7.4% in apparently isolated fetal ventriculomegaly of ≤ 15 mm. The incidence of neurodevelopmental delay in truly isolated ventriculomegaly of ≤ 15 mm is 7.9%. As the latter rate is similar to that noted in the general population, large prospective cohort studies assessing the prevalence of childhood disability, rather than subtle neurodevelopmental delay, are required. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Intermittent detection of fetal heart rate abnormalities identify infants at greatest risk for fresh stillbirths, birth asphyxia, neonatal resuscitation, and early neonatal deaths in a limited-resource setting: a prospective descriptive observational study at Haydom Lutheran Hospital.

PubMed

Langli Ersdal, Hege; Mduma, Estomih; Svensen, Erling; Sundby, Johanne; Perlman, Jeffrey

2012-01-01

Intermittent fetal heart rate (FHR) monitoring during labor using an acoustic stethoscope is the most frequent method for fetal assessment of well-being in low- and middle-income countries. Evidence concerning reliability and efficacy of this technique is almost nonexistent. To determine the value of routine intermittent FHR monitoring during labor in the detection of FHR abnormalities, and the relationship of abnormalities to the subsequent fresh stillbirths (FSB), birth asphyxia (BA), need for neonatal face mask ventilation (FMV), and neonatal deaths within 24 h. This is a descriptive observational study in a delivery room from November 2009 through December 2011. Research assistants/observers (n = 14) prospectively observed every delivery and recorded labor information including FHR and interventions, neonatal information including responses in the delivery room, and fetal/neonatal outcomes (FSB, death within 24 h, admission neonatal area, or normal). 10,271 infants were born. FHR was abnormal (i.e. <120 or >160 beats/min) in 279 fetuses (2.7%) and absent in 200 (1.9%). Postnatal outcomes included FSB in 159 (1.5%), need for FMV in 695 (6.8%), BA (i.e. 5-min Apgar score <7) in 69 (0.7%), and deaths in 89 (0.9%). Abnormal FHR was associated with labor complications (OR = 31.4; 95% CI: 23.1-42.8), increased need for FMV (OR = 7.8; 95% CI: 5.9-10.1), BA (OR = 21.7; 95% CI: 12.7-37.0), deaths (OR = 9.9; 95% CI: 5.6-17.5), and FSB (OR = 35; 95% CI: 20.3-60.4). An undetected FHR predicted FSB (OR = 1,983; 95% CI: 922-4,264). Intermittent detection of an absent or abnormal FHR using a fetal stethoscope is associated with FSB, increased need for neonatal resuscitation, BA, and neonatal death in a limited-resource setting. The likelihood of an abnormal FHR is magnified with labor complications. Copyright © 2012 S. Karger AG, Basel.

Use of the SeHCAT test in the investigation of diarrhoea.

PubMed Central

Ford, G. A.; Preece, J. D.; Davies, I. H.; Wilkinson, S. P.

1992-01-01

The SeHCAT test was used to investigate possible bile acid malabsorption in 166 patients presenting to a district general hospital with chronic diarrhoea of uncertain cause. Eighty-four (51%) patients had impaired SeHCAT retention. These included 23 of 28 patients with a possible type I abnormality (terminal ileal resection or disease, previous pelvic radiotherapy), 20 of 74 with a possible type II abnormality (idiopathic diarrhoea), 32 of 45 with a possible type III abnormality (post-cholecystectomy, post-vagotomy), and 9 of 19 with diarrhoea associated with diabetes. Patients with severe bile acid malabsorption demonstrated a good response to cholestyramine whereas the response in patients with a mildly abnormal SeHCAT retention was variable. Bile acid malabsorption is an important cause of diarrhoea in patients presenting with unexplained chronic diarrhoea. PMID:1409191

Migraine patients consistently show abnormal vestibular bedside tests.

PubMed

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

2016-01-01

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

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

ERIC Educational Resources Information Center

Fernald, Charles D.

1980-01-01

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

Intelligent Process Abnormal Patterns Recognition and Diagnosis Based on Fuzzy Logic.

PubMed

Hou, Shi-Wang; Feng, Shunxiao; Wang, Hui

2016-01-01

Locating the assignable causes by use of the abnormal patterns of control chart is a widely used technology for manufacturing quality control. If there are uncertainties about the occurrence degree of abnormal patterns, the diagnosis process is impossible to be carried out. Considering four common abnormal control chart patterns, this paper proposed a characteristic numbers based recognition method point by point to quantify the occurrence degree of abnormal patterns under uncertain conditions and a fuzzy inference system based on fuzzy logic to calculate the contribution degree of assignable causes with fuzzy abnormal patterns. Application case results show that the proposed approach can give a ranked causes list under fuzzy control chart abnormal patterns and support the abnormity eliminating.

Chromosomal abnormalities as a cause of recurrent abortions in Egypt

PubMed Central

El-Dahtory, Faeza Abdel Mogib

2011-01-01

BACKGROUND: In 4%-8% of couples with recurrent abortion, at least one of the partners has chromosomal abnormality. Most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. These chromosomal abnormalities may be either numerical or structural. MATERIAL AND METHODS: Cytogenetic study was done for 73 Egyptian couples who presented with recurrent abortion at Genetic Unit of Children Hospital, Mansoura University. RESULTS: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. Chromosomal abnormalities were detected in 9 (6.1%) of 73 couples. Seven of chromosomal abnormalities were structural and two of them were numerical. CONCLUSION: Our results showed that 6.1% of the couples with recurrent abortion had chromosomal abnormalities, with no other abnormalities. We suggest that it is necessary to perform cytogenetic in vestigation for couples who have recurrent abortion. PMID:22090718

Review: Diagnosis and impact of sperm DNA alterations in assisted reproduction.

PubMed

Simon, Luke; Emery, Benjamin R; Carrell, Douglas T

2017-10-01

Sperm nuclear and chromatin abnormalities are common among infertile men and are known to influence natural reproduction. These abnormalities are also considered detrimental to normal fertilization, embryo development, and successful implantation and pregnancies following assisted reproductive treatment (ART). Abnormalities in the sperm nucleus can be broadly classified into sperm chromosomal abnormalities (aneuploidies) and sperm DNA abnormalities such as abnormal packing, DNA integrity, or DNA fragmentation. For the past 30 years, numerous tests have been developed to quantify these abnormalities in sperm. In this chapter, we review the causes of sperm DNA and chromosomal abnormalities, describe the commonly used tests to evaluate these abnormalities, and finally review the impact of these abnormalities on male fertility and ART outcomes. We also performed a comprehensive meta-analysis and systematic review from the existing literature to summarize the effect of sperm DNA fragmentation on ART outcomes such as fertilization rate, embryo quality, and clinical pregnancies. A review of the literature presented in this chapter suggests that sperm nuclear and chromatin abnormalities are associated with male infertility, and they reduce the probability of a successful pregnancy following ART. Copyright © 2017. Published by Elsevier Ltd.

Congenital intra-abdominal bilateral juvenile granulosa cell tumors of the testis associated with constitutional loss of material from chromosome 4.

PubMed

Yu, David C; Pathak, Bhavana; Vargas, Sara O; Javid, Patrick J; Hisama, Fuki M; Wilson, Jay M; Linden, Bradley C

2011-01-01

Juvenile granulosa cell tumor (JGCT) is an uncommon gonadal stromal tumor that occurs rarely in the testis. We report a newborn boy with bilateral intra-abdominal JGCT presenting with abdominal distention and respiratory distress at birth. He was taken to the operating room emergently, and 2 large masses connected by gubernacula to the inguinal canals were resected. Associated abnormalities included a constitutional chromosome 4 abnormality, polymicrogyria, and renal cysts. This report describes a rare presentation of JGCT with abdominal compression and expands the literature to include bilateral testicular involvement. Additionally, it is the 1st report of JGCT associated with a chromosome 4 abnormality, highlighting a genetic region that may be important in JGCT development.

Incidental renal tumours on low-dose CT lung cancer screening exams.

PubMed

Pinsky, Paul F; Dunn, Barbara; Gierada, David; Nath, P Hrudaya; Munden, Reginald; Berland, Lincoln; Kramer, Barnett S

2017-06-01

Introduction Renal cancer incidence has increased markedly in the United States in recent decades, largely due to incidentally detected tumours from computed tomography imaging. Here, we analyze the potential for low-dose computed tomography lung cancer screening to detect renal cancer. Methods The National Lung Screening Trial randomized subjects to three annual screens with either low-dose computed tomography or chest X-ray. Eligibility criteria included 30 + pack-years, current smoking or quit within 15 years, and age 55-74. Subjects were followed for seven years. Low-dose computed tomography screening forms collected information on lung cancer and non-lung cancer abnormalities, including abnormalities below the diaphragm. A reader study was performed on a sample of National Lung Screening Trial low-dose computed tomography images assessing presence of abnormalities below the diaphragms and abnormalities suspicious for renal cancer. Results There were 26,722 and 26,732 subjects enrolled in the low-dose computed tomography and chest X-ray arms, respectively, and there were 104 and 85 renal cancer cases diagnosed, respectively (relative risk = 1.22, 95% CI: 0.9-1.5). From 75,126 low-dose computed tomography screens, there were 46 renal cancer diagnoses within one year. Abnormalities below the diaphragm rates were 39.1% in screens with renal cancer versus 4.1% in screens without (P < 0.001). Cases with abnormalities below the diaphragms had shorter median time to diagnosis than those without (71 vs. 160 days, P = 0.004). In the reader study, 64% of renal cancer cases versus 13% of non-cases had abnormalities below the diaphragms; 55% of cases and 0.8% of non-cases had a finding suspicious for renal cancer (P < 0.001). Conclusion Low-dose computed tomography screens can potentially detect renal cancers. The benefits to harms tradeoff of incidental detection of renal tumours on low-dose computed tomography is unknown.

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

PubMed

Myers, Kenneth A; Mandelstam, Simone A; Ramantani, Georgia; Rushing, Elisabeth J; de Vries, Bert B; Koolen, David A; Scheffer, Ingrid E

2017-06-01

This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping. Additional subjects were included who approached us after the family support group brought attention to our research via social media. Inclusion criteria were genetic testing results demonstrating 17q21.31 deletion or KANSL1 mutation, and at least one seizure. Thirty-one individuals were studied, aged 2-35 years. Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features. Twenty-one patients had prolonged seizures and, at times, refractory status epilepticus. Electroencephalography (EEG) showed focal/multifocal epileptiform discharges in 20 of 26. MRI studies of 13 patients were reviewed, and all had structural anomalies. Corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles were the most common, although periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and brainstem and cerebellum abnormalities were also observed. One patient underwent epilepsy surgery for a lesion that proved to be an angiocentric glioma. The typical epilepsy phenotype of KdVS involves childhood-onset focal seizures that are prolonged and have prominent autonomic features. Multifocal epileptiform discharges are the typical EEG pattern. Structural brain abnormalities may be universal, including signs of abnormal neuroblast migration and abnormal axonal guidance. Epilepsy surgery should be undertaken with care given the widespread neuroanatomic abnormalities; however, tumors are a rare, yet important, occurrence. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Improved detection rate of cytogenetic abnormalities in chronic lymphocytic leukemia and other mature B-cell neoplasms with use of CpG-oligonucleotide DSP30 and interleukin 2 stimulation.

PubMed

Shi, Min; Cipollini, Matthew J; Crowley-Bish, Patricia A; Higgins, Anne W; Yu, Hongbo; Miron, Patricia M

2013-05-01

Detection of cytogenetic abnormalities requires successful culture of the clonal population to obtain metaphase chromosomes for study, and as such, has been hampered by low mitotic indices of mature B cells in culture. Our study presents data on the improved abnormality detection rate with the use of a CpG-oligonucleotide/interleukin 2 (OL/IL-2) culture protocol for mature B-cell neoplasms, including chronic lymphocytic leukemia (CLL) and non-CLL specimens. The increased detection rate of abnormalities, compared with unstimulated culture and traditional pokeweed mitogen culture, was statistically significant for both CLL and non-CLL neoplasms. For CLL specimens, our data also showed that for cytogenetically visible aberrations, OL/IL-2 was as, if not more, sensitive than detection with interphase fluorescence in situ hybridization (iFISH). Use of OL/IL-2 allowed a number of abnormalities to be detected, which were not covered by specific iFISH panels, especially balanced translocations. Therefore, OL/IL-2 stimulation improves diagnostic sensitivity and increases discovery rate of novel prognostic findings.

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome.

PubMed

Susman, Marleen R; Amor, David J; Muggli, Evelyne; Jaques, Alice M; Halliday, Jane

2010-05-01

To compare the number and types of chromosome abnormalities prenatally diagnosed and the number of invasive procedures between current prenatal testing pathways and a pathway where noninvasive prenatal diagnosis for Down syndrome replaces Down syndrome screening tests. Numbers and types of chromosome abnormalities for each referral category were extracted from prenatal diagnostic testing reports routinely collected in Victoria, Australia, in 2006 and 2007. These data were then applied to the proposed implementation strategy. If noninvasive prenatal diagnosis for Down syndrome had replaced Down syndrome screening tests in 2006 and 2007, in Victoria, there would have been 25 (7%) additional Down syndrome diagnosed, 6896 (84%) fewer invasive procedures, and 231 (56%) non-Down syndrome chromosome abnormalities no longer detected. These include trisomy 13, trisomy 18, sex chromosome abnormalities, balanced and unbalanced rearrangements, polyploidy, and mosaic results. The potential loss of information about chromosome abnormalities other than Down syndrome with noninvasive prenatal diagnosis compared with full karyotyping with traditional prenatal diagnosis should be considered when planning for the implementation of new technologies.

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

PubMed Central

Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent

2016-01-01

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

The FIGO systems for nomenclature and classification of causes of abnormal uterine bleeding in the reproductive years: who needs them?

PubMed

Munro, Malcolm G; Critchley, Hilary O D; Fraser, Ian S

2012-10-01

In November 2010, the International Federation of Gynecology and Obstetrics formally accepted a new classification system for causes of abnormal uterine bleeding in the reproductive years. The system, based on the acronym PALM-COEIN (polyps, adenomyosis, leiomyoma, malignancy and hyperplasia-coagulopathy, ovulatory disorders, endometrial causes, iatrogenic, not classified) was developed in response to concerns about the design and interpretation of basic science and clinical investigation that relates to the problem of abnormal uterine bleeding. A system of nomenclature for the description of normal uterine bleeding and the various symptoms that comprise abnormal bleeding has also been included. This article describes the rationale, the structured methods that involved stakeholders worldwide, and the suggested use of the International Federation of Gynecology and Obstetrics system for research, education, and clinical care. Investigators in the field are encouraged to use the system in the design of their abnormal uterine bleeding-related research because it is an approach that should improve our understanding and management of this often perplexing clinical condition. Copyright © 2012. Published by Mosby, Inc.

Preliminary evidence for obesity and elevations in fasting insulin mediating associations between cortisol awakening response and hippocampal volumes and frontal atrophy.

PubMed

Ursache, Alexandra; Wedin, William; Tirsi, Aziz; Convit, Antonio

2012-08-01

Recent studies have demonstrated alterations in the cortisol awakening response (CAR) and brain abnormalities in adults with obesity and type 2 diabetes mellitus (T2DM). While adolescents with T2DM exhibit similar brain abnormalities, less is known about whether brain impairments and hypothalamic-pituitary-adrenal (HPA) axis abnormalities are already present in adolescents with pre-diabetic conditions such as insulin resistance (IR). This study included 33 adolescents with IR and 20 without IR. Adolescents with IR had a blunted CAR, smaller hippocampal volumes, and greater frontal lobe atrophy compared to controls. Mediation analyses indicated pathways whereby a smaller CAR was associated with higher BMI which was in turn associated with fasting insulin levels, which in turn was related to smaller hippocampal volume and greater frontal lobe atrophy. While we had hypothesized that HPA dysregulation may result from brain abnormalities, our findings suggest that HPA dysregulation may also impact brain structures through associations with metabolic abnormalities. Copyright © 2012 Elsevier Ltd. All rights reserved.

Dysphagia in healthy children: Characteristics and management of a consecutive cohort at a tertiary centre.

PubMed

Svystun, Orysya; Johannsen, Wendy; Persad, Rabin; Turner, Justine M; Majaesic, Carina; El-Hakim, Hamdy

2017-08-01

Whereas the literature is replete with reports on complex children with dysphagia (DP), the parameters characterizing non-neurologically impaired (NNI) children have been underreported, leaving a substantial knowledge gap. We set to characterize a consecutive cohort of NNI children, their management, and outcomes. We undertook a retrospective case series. Children (<18 years old) attending a tertiary multidisciplinary swallowing clinic were eligible. Patients with neuro-developmental, neuromuscular, or syndromic abnormalities were excluded. Primary outcomes included demographics, co-morbidities, presentations, McGill score, swallowing and airway abnormalities (and their predictors). Secondary outcomes were interventions and management response. From 171 consecutive patients (37-month period), 128 were included (69 males, median age 6.6 months (0.5-124.2)). Significant clinical presentations included recurrent pneumonias (20), cyanotic spells (14) and life-threatening events (10). Swallowing assessments revealed laryngeal penetration (67), aspiration (25). Other investigations included overnight oximetry (77), airway (70), and gastrointestinal endoscopy (24); revealing laryngomalacia (29), laryngeal mobility disorder (8), and subglottic stenosis (8). Non-surgical interventions involved oral diet modifications (85) and enteral nutrition (15). Surgical interventions included supraglottoplasties (18), endoscopic laryngeal cleft repair (14), and injection (19). 119 patients received intervention and at last follow-up (median 5.2 months (0.3-88.8)) 94 had improved. Of those treated 116 were on an unmodified oral diet, and 24 on a modified diet. ALTE and snoring predicted airway abnormalities, recurrent pneumonia predicted swallowing abnormalities, and age and airway lesions predicted the McGill score. a significant proportion of NNI children with DP harbor airway and swallowing abnormalities warranting endoscopic and instrumental assessment. Copyright © 2017 Elsevier B.V. All rights reserved.

Proximal Hypospadias

PubMed Central

Kraft, Kate H.; Shukla, Aseem R.; Canning, Douglas A.

2011-01-01

Hypospadias results from abnormal development of the penis that leaves the urethral meatus proximal to its normal glanular position. Meatal position may be located anywhere along the penile shaft, but more severe forms of hypospadias may have a urethral meatus located at the scrotum or perineum. The spectrum of abnormalities may also include ventral curvature of the penis, a dorsally redundant prepuce, and atrophic corpus spongiosum. Due to the severity of these abnormalities, proximal hypospadias often requires more extensive reconstruction in order to achieve an anatomically and functionally successful result. We review the spectrum of proximal hypospadias etiology, presentation, correction, and possible associated complications. PMID:21516286

A proposal to classify happiness as a psychiatric disorder.

PubMed Central

Bentall, R P

1992-01-01

It is proposed that happiness be classified as a psychiatric disorder and be included in future editions of the major diagnostic manuals under the new name: major affective disorder, pleasant type. In a review of the relevant literature it is shown that happiness is statistically abnormal, consists of a discrete cluster of symptoms, is associated with a range of cognitive abnormalities, and probably reflects the abnormal functioning of the central nervous system. One possible objection to this proposal remains--that happiness is not negatively valued. However, this objection is dismissed as scientifically irrelevant. PMID:1619629

Cat-scratch disease. Subtle vertebral bone marrow abnormalities demonstrated by MR imaging and radionuclide bone scan.

PubMed

Wilson, J D; Castillo, M

1995-01-01

Cat-scratch disease (CSD) is a benign, self-limited cause of lymphadenitis occurring mainly in children and young adults. Its etiology is a delicate, small gram-negative pleomorphic bacillus. Less common manifestations of CSD are seen in 5% of patients and include Parinaud's oculoglandular syndrome (with enlargement of the preauricular nodes), parotid gland enlargement, encephalitis, radiculopathy, pneumonitis, erythema nodosum, thrombocytopenia, and lytic bone lesions. We describe a patient in whom magnetic resonance imaging initially detected subtle vertebral bone marrow abnormalities that correlated with the site of abnormality on a subsequent radionuclide bone scan.

Refeeding syndrome.

PubMed

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

Excimer laser phototherapy for the dissolution of abnormal growth

DOEpatents

Gruen, D.M.; Young, C.E.; Pellin, M.J.

1985-02-19

Removal of abnormal human tissue with reduced thermal damage is achieved by selecting a laser having a wavelength in the order of 290 to 400 nm, orienting a laser-transmitting glass member toward the abnormal tissue and directing the laser through the glass member at power densities, pulse rates, and times sufficient to cause multiphoton absorption and bond breaking by Coulomb repulsion rather than thermal destruction. The glass member may include a laser beam concentrator provided by a lens or cone at the tissue-treatment end to increase the beam energy per unit area and reduce the treatment area. 6 figs.

Excimer laser phototherapy for the dissolution of abnormal growth

DOEpatents

Gruen, Dieter M.; Young, Charles E.; Pellin, Michael J.

1987-01-01

Removal of abnormal human tissue with reduced thermal damage is achieved by selecting a laser having a wavelength in the order of 290-400 nm, orienting a laser-transmitting glass member toward the abnormal tissue and directing the laser through the glass member at power densities, pulse rates, and times sufficient to cause multiphoton absorption and bond breaking by Coulomb repulsion rather than thermal destruction. The glass member may include a laser beam concentrator provided by a lens or cone at the tissue-treatment end to increase the beam energy per unit area and reduce the treatment area.

Novel Therapeutic Options for the Treatment of Mineral Metabolism Abnormalities in End Stage Renal Disease

PubMed Central

Kendrick, Jessica; Chonchol, Michel

2015-01-01

Abnormalities in mineral metabolism are a universal complication in dialysis patients and are associated with an increased risk of cardiovascular disease and mortality. Hyperphosphatemia, increased fibroblast growth factor 23 levels and secondary hyperparathyroidism are all strongly associated with adverse outcomes in end stage renal disease (ESRD) and most treatment strategies target these parameters. Over the past few years, new therapies have emerged for the treatment of abnormalities of mineral metabolism in ESRD and many are promising. This article will review these new therapeutic options including the potential advantages and disadvantages compared to existing therapies. PMID:26278462

[INDIVIDUAL EVALUATION OF LORETA ABNORMALITIES IN IDIOPATHIC GENERALIZED EPILEPSY].

PubMed

Clemens, Béla; Puskás, Szilvia; Besenyei, Mónika; Kondákor, István; Hollódy, Katalin; Fogarasi, Andrós; Bense, Katalin; Emri, Miklós; Opposits Gábor; Kovács, Noémi Zsuzsanna; Fekete, István

2016-03-30

Contemporary neuroimaging methods disclosed structural and functional cerebral abnormalities in idiopathic generalized epilepsies (IGEs). However, individual electrical (EEG) abnormalities have not been evaluated yet in IGE patients. IGE patients were investigated in the drug-free condition and after 3-6 month of antiepileptic treatment. To estimate the reproducibility of qEEG variables a retrospective recruited cohort of IGE patients was investigated. 19-channel resting state EEG activity was recorded. For each patient a total of 2 minutes EEG activity was analyzed by LORETA (Low Resolution Electromagnetic Tomography). Raw LORETA values were Z-transformed and projected to a MRI template. Z-values outside within the [+3Z] to [-3Z] range were labelled as statistically abnormal. 1. In drug-free condition, 41-50% of IGE patients showed abnormal LORETA values. 2. Abnormal LORETA findings showed great inter-individual variability. 3. Most abnormal LORETA-findings were symmetrical. 4. Most maximum Z-values were localized to frontal or temporal cortex. 5. Succesfull treatment was mostly coupled with disappearence of LORETA-abnormality, persistent seizures were accompanied by persistent LORETA abnormality. 1. LORETA abnormalities detected in the untreated condition reflect seizure-generating property of the cortex in IGE patients. 2. Maximum LORETA-Z abnormalities were topographically congruent with structural abnormalities reported by other research groups. 3. LORETA might help to investigate drug effects at the whole-brain level.

Abnormal Selective Attention Normalizes P3 Amplitudes in PDD

ERIC Educational Resources Information Center

Hoeksma, Marco R.; Kemner, Chantal; Kenemans, J. Leon; van Engeland, Herman

2006-01-01

This paper studied whether abnormal P3 amplitudes in PDD are a corollary of abnormalities in ERP components related to selective attention in visual and auditory tasks. Furthermore, this study sought to clarify possible age differences in such abnormalities. Children with PDD showed smaller P3 amplitudes than controls, but no abnormalities in…

42 CFR 37.54 - Notification of abnormal radiographic findings.

Code of Federal Regulations, 2013 CFR

2013-10-01

..., abnormality of cardiac shape or size, tuberculosis, lung cancer, or any other significant abnormal findings... shape or size, tuberculosis, cancer, complicated pneumoconiosis, and any other significant abnormal...

Clozapine-induced EEG abnormalities and clinical response to clozapine.

PubMed

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

1995-01-01

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

The Association between Persistent Hypertriglyceridemia and the Risk of Diabetes Development: The Kangbuk Samsung Health Study.

PubMed

Kwon, Yu Hyun; Kim, Seul Ki; Cho, Jung Hwan; Kwon, Hyemi; Park, Se Eun; Oh, Hyung Geun; Park, Cheol Young; Lee, Won Young; Oh, Ki Won; Park, Sung Woo; Rhee, Eun Jung

2018-03-01

Hypertriglyceridemia is known to have an association with increased risks of insulin resistance and diabetes. The aim of this study was to investigate the risk of diabetes mellitus, according to changes in the concentrations of triglycerides, over time. A total of 15,932 non-diabetic participants (mean age 43.2 years, 68% men) who attended five consecutive annual health check-ups at Kangbuk Samsung Hospital, between January 2010 and December 2014, were recruited. Participants were classified according to their triglyceride concentrations; normal (<150 mg/dL) and abnormal (≥150 mg/dL). According to the triglyceride levels in 2010 and 2012, subjects were divided into four groups: normal-normal, normal-abnormal, abnormal-normal, and abnormal-abnormal. The risk for incident diabetes was assessed in 2014. Among the total subjects, 67.5% belonged to the normal-normal group, 8.6% to the normal-abnormal group, 9.4% to the abnormal-normal group, and 14.5% to the abnormal-abnormal group. A total of 234 subjects (1.5%) were newly diagnosed with diabetes, between 2010 and 2014. Over 4 years, 1%, 1.5%, 2.1%, and 3.0% of the subjects developed diabetes in the normal-normal, normal-abnormal, abnormal-normal, and abnormal-abnormal groups, respectively. When the risk for incident diabetes was analyzed in the groups, after adjusting the confounding variables, a 1.58-fold increase in the risk of diabetes (95% confidence interval [CI], 1.10 to 2.26) was observed in the participants with persistent hypertriglyceridemia (abnormal-abnormal group). This was attenuated by further adjustments for body mass index (BMI) (hazard ratio, 1.25; 95% CI, 0.86 to 1.80). In this large study population, persistent hypertriglyceridemia, over a period of 2 years, was significantly associated with the risk of incident diabetes, which was attenuated after adjustment for BMI. Copyright © 2018 Korean Endocrine Society.

The Association between Persistent Hypertriglyceridemia and the Risk of Diabetes Development: The Kangbuk Samsung Health Study

PubMed Central

Kwon, Yu Hyun; Kim, Seul-Ki; Cho, Jung Hwan; Kwon, Hyemi; Park, Se Eun; Oh, Hyung-Geun; Park, Cheol-Young; Lee, Won-Young; Oh, Ki-Won; Park, Sung-Woo

2018-01-01

Background Hypertriglyceridemia is known to have an association with increased risks of insulin resistance and diabetes. The aim of this study was to investigate the risk of diabetes mellitus, according to changes in the concentrations of triglycerides, over time. Methods A total of 15,932 non-diabetic participants (mean age 43.2 years, 68% men) who attended five consecutive annual health check-ups at Kangbuk Samsung Hospital, between January 2010 and December 2014, were recruited. Participants were classified according to their triglyceride concentrations; normal (<150 mg/dL) and abnormal (≥150 mg/dL). According to the triglyceride levels in 2010 and 2012, subjects were divided into four groups: normal-normal, normal-abnormal, abnormal-normal, and abnormal-abnormal. The risk for incident diabetes was assessed in 2014. Results Among the total subjects, 67.5% belonged to the normal-normal group, 8.6% to the normal-abnormal group, 9.4% to the abnormal-normal group, and 14.5% to the abnormal-abnormal group. A total of 234 subjects (1.5%) were newly diagnosed with diabetes, between 2010 and 2014. Over 4 years, 1%, 1.5%, 2.1%, and 3.0% of the subjects developed diabetes in the normal-normal, normal-abnormal, abnormal-normal, and abnormal-abnormal groups, respectively. When the risk for incident diabetes was analyzed in the groups, after adjusting the confounding variables, a 1.58-fold increase in the risk of diabetes (95% confidence interval [CI], 1.10 to 2.26) was observed in the participants with persistent hypertriglyceridemia (abnormal-abnormal group). This was attenuated by further adjustments for body mass index (BMI) (hazard ratio, 1.25; 95% CI, 0.86 to 1.80). Conclusion In this large study population, persistent hypertriglyceridemia, over a period of 2 years, was significantly associated with the risk of incident diabetes, which was attenuated after adjustment for BMI. PMID:29388400

Abnormal pressures as hydrodynamic phenomena

USGS Publications Warehouse

Neuzil, C.E.

1995-01-01

So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

Herpes Zoster Oticus

MedlinePlus

... hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and ... hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and ...

Abnormal Uterine Bleeding

MedlinePlus

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

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

PubMed

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

2006-01-01

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

A systematic review of visual processing and associated treatments in body dysmorphic disorder.

PubMed

Beilharz, F; Castle, D J; Grace, S; Rossell, S L

2017-07-01

Recent advances in body dysmorphic disorder (BDD) have explored abnormal visual processing, yet it is unclear how this relates to treatment. The aim of this study was to summarize our current understanding of visual processing in BDD and review associated treatments. The literature was collected through PsycInfo and PubMed. Visual processing articles were included if written in English after 1970, had a specific BDD group compared to healthy controls and were not case studies. Due to the lack of research regarding treatments associated with visual processing, case studies were included. A number of visual processing abnormalities are present in BDD, including face recognition, emotion identification, aesthetics, object recognition and gestalt processing. Differences to healthy controls include a dominance of detailed local processing over global processing and associated changes in brain activation in visual regions. Perceptual mirror retraining and some forms of self-exposure have demonstrated improved treatment outcomes, but have not been examined in isolation from broader treatments. Despite these abnormalities in perception, particularly concerning face and emotion recognition, few BDD treatments attempt to specifically remediate this. The development of a novel visual training programme which addresses these widespread abnormalities may provide an effective treatment modality. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The relationship of abnormal foot pronation to hallux abducto valgus--a pilot study.

PubMed

Ross, F D

1986-08-01

Abnormal foot mechanics is the most common cause of hallux abducto valgus. To date no quantitative data regarding the relationship between abnormal foot mechanics and the degree of hallux abducto valgus has been presented. An outline of the abnormal foot mechanics responsible for hallux abducto valgus is described along with a technique for measuring the extent of abnormal function. A common intrinsic abnormality responsible for hallux abducto valgus is described along with its diagnosis and orthotic treatment.

Hemorrhoids detected at colonoscopy: an infrequent cause of false-positive fecal immunochemical test results.

PubMed

van Turenhout, Sietze T; Oort, Frank A; Terhaar sive Droste, Jochim S; Coupé, Veerle M H; van der Hulst, Rene W; Loffeld, Ruud J; Scholten, Pieter; Depla, Annekatrien C T M; Bouman, Anneke A; Meijer, Gerrit A; Mulder, Chris J J; van Rossum, Leo G M

2012-07-01

Colorectal cancer screening by fecal immunochemical tests (FITs) is hampered by frequent false-positive (FP) results and thereby the risk of complications and strain on colonoscopy capacity. Hemorrhoids might be a plausible cause of FP results. To determine the contribution of hemorrhoids to the frequency of FP FIT results. Retrospective analysis from prospective cohort study. Five large teaching hospitals, including 1 academic hospital. All subjects scheduled for elective colonoscopy. FIT before bowel preparation. Frequency of FP FIT results in subjects with hemorrhoids as the only relevant abnormality compared with FP FIT results in subjects with no relevant abnormalities. Logistic regression analysis to determine colonic abnormalities influencing FP results. In 2855 patients, 434 had positive FIT results: 213 had advanced neoplasia and 221 had FP results. In 9 individuals (4.1%; 95% CI, 1.4-6.8) with an FP FIT result, hemorrhoids were the only abnormality. In univariate unadjusted analysis, subjects with hemorrhoids as the only abnormality did not have more positive results (9/134; 6.7%) compared with subjects without any abnormalities (43/886; 4.9%; P = .396). Logistic regression identified hemorrhoids, nonadvanced polyps, and a group of miscellaneous abnormalities, all significantly influencing false positivity. Of 1000 subjects with hemorrhoids, 67 would have FP results, of whom 18 would have FP results because of hemorrhoids only. Potential underreporting of hemorrhoids; high-risk individuals. Hemorrhoids in individuals participating in colorectal cancer screening will probably not lead to a substantial number of false-positive test results. Copyright © 2012 American Society for Gastrointestinal Endoscopy. Published by Mosby, Inc. All rights reserved.

Electrocardiographic changes in hospitalized patients with leptospirosis over a 10-year period.

PubMed

Škerk, Vedrana; Markotić, Alemka; Puljiz, Ivan; Kuzman, Ilija; Čeljuska Tošev, Elvira; Habuš, Josipa; Turk, Nenad; Begovac, Josip

2011-07-01

The aim of this study was to investigate the incidence and type of ECG changes in patients with leptospirosis regardless of clinical evidence of cardiac involvement. A total of 97 patients with serologically confirmed leptospirosis treated at the University Hospital for Infectious Diseases "Dr. Fran Mihaljević" in Zagreb, Croatia, were included in this retrospective study. A 12-lead resting ECG was routinely performed in the first 2 days after hospital admission. Thorough past and current medical history was obtained, and careful physical examination and laboratory tests were performed. Abnormal ECG findings were found in 56 of 97 (58%) patients. Patients with abnormal ECG had significantly elevated values of bilirubin and alanine aminotransferase, lower values of potassium and lower number of platelets, as well as more frequently recorded abnormal chest x-ray. Non-specific ventricular repolarization disturbances were the most common abnormal ECG finding. Other recorded ECG abnormalities were sinus tachycardia, right branch conduction disturbances, low voltage of the QRS complex in standard limb leads, supraventricular and ventricular extrasystoles, intraventricular conduction disturbances, atrioventricular block first-degree and atrial fibrillation. Myopericarditis was identified in 4 patients. Regardless of ECG changes, the most commonly detected infection was with Leptospira interrogans serovar Australis, Leptospira interrogans serovar Saxkoebing and Leptospira kirschneri serovar Grippotyphosa. The ECG abnormalities are common at the beginning of disease and are possibly caused by the direct effect of leptospires or are the non-specific result of a febrile infection and metabolic and electrolyte abnormalities. New studies are required for better understanding of the mechanism of ECG alterations in leptospirosis.

Prevalence of preoperative penile abnormalities among voluntary male medical circumcision patients in Swaziland.

PubMed

Oddo, Anthony R; Ruedrich, Elizabeth; Zust, Christopher; Marugg, Lindsey; VanderWal, Echo; VanderWal, Harry; Sartori, Rebekah; Markert, Ronald; McCarthy, Mary C

2017-08-01

Circumcision has been found to be an effective strategy for lowering the transmission of HIV in Africa. The Luke Commission, a mobile hospital outreach program, has used this information to decrease the rate of HIV in Swaziland by performing voluntary male medical circumcisions throughout the country. During many of these circumcisions, genital medical conditions and penile abnormalities are simultaneously discovered and corrected. The goal of our study was to evaluate the prevalence of penile abnormalities discovered and treated during voluntary male medical circumcisions performed by The Luke Commission (TLC) throughout rural Swaziland. We completed a retrospective analysis of all male patients who underwent voluntary male medical circumcision performed by TLC during a period from June-August, 2014. The penile abnormalities included: phimosis, paraphimosis, epispadias, hypospadias, ulcers, balanitis, torsion, and foreskin adherent to the glans. Of 929 total circumcisions, 771 (83%) patients had at least one pre-existing penile abnormality identified during their examinations and procedures, totaling 1110 abnormalities. Three specific abnormalities were detected - phimosis, adherent foreskin, and hypospadias. The 6-12 and 13-19 age groups had adequate sample sizes to yield precise estimates of prevalence (age group 6-12: 87% (95% confidence interval [CI]=84-90%; age group 13-19: 79% (95% CI=74-84%). The Luke Commission is improving the lives of children and adults with limited access to healthcare through regular preoperative evaluations during male circumcision, and the organization is setting an example for other international healthcare groups. Type of Study: Prognostic Study, Level II. Copyright © 2017 Elsevier Inc. All rights reserved.

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

PubMed

Rocca, Maria A; Bianchi-Marzoli, Stefania; Messina, Roberta; Cascavilla, Maria Lucia; Zeviani, Massimo; Lamperti, Costanza; Milesi, Jacopo; Carta, Arturo; Cammarata, Gabriella; Leocani, Letizia; Lamantea, Eleonora; Bandello, Francesco; Comi, Giancarlo; Falini, Andrea; Filippi, Massimo

2015-05-01

Using advanced MRI techniques, we investigated the presence and topographical distribution of brain grey matter (GM) and white matter (WM) alterations in dominant optic atrophy (DOA) patients with genetically proven OPA1 mutation as well as their correlation with clinical and neuro-ophthalmologic findings. Nineteen DOA patients underwent neurological, neuro-ophthalmologic and brainstem auditory evoked potentials (BAEP) evaluations. Voxel-wise methods were applied to assess regional GM and WM abnormalities in patients compared to 20 healthy controls. Visual acuity was reduced in 16 patients. Six DOA patients (4 with missense mutations) had an abnormal I peripheral component (auditory nerve) at BAEP. Compared to controls, DOA patients had significant atrophy of the optic nerves (p < 0.0001). Voxel-based morphometry (VBM) analysis showed that, compared to controls, DOA patients had significant WM atrophy of the chiasm and optic tracts; whereas no areas of GM atrophy were found. Tract-based spatial statistics (TBSS) analysis showed that compared to controls, DOA patients had significantly lower mean diffusivity, axial and radial diffusivity in the WM of the cerebellum, brainstem, thalamus, fronto-occipital-temporal lobes, including the cingulum, corpus callosum, corticospinal tract and optic radiation bilaterally. No abnormalities of fractional anisotropy were detected. No correlations were found between volumetric and diffusivity abnormalities quantified with MRI and clinical and neuro-ophthalmologic measures of disease severity. Consistently with pathological studies, tissue loss in DOA patients is limited to anterior optic pathways reflecting retinal ganglion cell degeneration. Distributed abnormalities of diffusivity indexes might reflect abnormal intracellular mitochondrial morphology as well as alteration of protein levels due to OPA1 mutations.

Holter registers and metabolic syndrome

NASA Astrophysics Data System (ADS)

Muñoz-Diosdado, A.; Ramírez-Hernández, L.; Aguilar-Molina, A. M.; Zamora-Justo, J. A.; Gutiérrez-Calleja, R. A.; Virgilio-González, C. D.

2014-11-01

There is a relationship between the state of the cardiovascular system and metabolic syndrome (MS). A way to diagnose the heart state of a person is to monitor the electrical activity of the heart using a 24 hours Holter monitor. Scanned ECG signal can be analyzed beat-by-beat by algorithms that separate normal of abnormal heartbeats. If the percentage of abnormal heartbeats is too high it could be argued that the patient has heart problems. We have algorithms that can not only identify the abnormal heartbeats, but they can also classify them, so we classified and counted abnormal heartbeats in patients with MS and subjects without MS. Most of our patients have large waist circumference, high triglycerides and high levels of LDL (high-density lipoprotein) cholesterol although some of them have high blood pressure. We enrolled adult patients with MS free of diabetes in a four month lifestyle intervention program including diet and physical aerobic exercise, and compared with healthy controls. We made an initial registration with a Holter, and 24 hours ECG signal is analyzed to identify and classify the different types of heartbeats. The patients then begin with diet or exercise (at least half an hour daily). Periodically Holter records were taken up and we describe the evolution in time of the number and type of abnormal heartbeats. Results show that the percentage of abnormal heartbeats decreases over time, in some cases the decline is very significant, and almost a reduction to half or less of abnormal heartbeats after several months since the patients changed their eating or physical activity habits.

Right ventricular pressure response to exercise in adults with isolated ventricular septal defect closed in early childhood.

PubMed

Moller, Thomas; Lindberg, Harald; Lund, May Brit; Holmstrom, Henrik; Dohlen, Gaute; Thaulow, Erik

2018-06-01

We previously demonstrated an abnormally high right ventricular systolic pressure response to exercise in 50% of adolescents operated on for isolated ventricular septal defect. The present study investigated the prevalence of abnormal right ventricular systolic pressure response in 20 adult (age 30-45 years) patients who underwent surgery for early ventricular septal defect closure and its association with impaired ventricular function, pulmonary function, or exercise capacity. The patients underwent cardiopulmonary tests, including exercise stress echocardiography. Five of 19 patients (26%) presented an abnormal right ventricular systolic pressure response to exercise ⩾ 52 mmHg. Right ventricular systolic function was mixed, with normal tricuspid annular plane systolic excursion and fractional area change, but abnormal tricuspid annular systolic motion velocity (median 6.7 cm/second) and isovolumetric acceleration (median 0.8 m/second2). Left ventricular systolic and diastolic function was normal at rest as measured by the peak systolic velocity of the lateral wall and isovolumic acceleration, early diastolic velocity, and ratio of early diastolic flow to tissue velocity, except for ejection fraction (median 53%). The myocardial performance index was abnormal for both the left and right ventricle. Peak oxygen uptake was normal (mean z score -0.4, 95% CI -2.8-0.3). There was no association between an abnormal right ventricular systolic pressure response during exercise and right or left ventricular function, pulmonary function, or exercise capacity. Abnormal right ventricular pressure response is not more frequent in adult patients compared with adolescents. This does not support the theory of progressive pulmonary vascular disease following closure of left-to-right shunts.

The importance of exercise gated blood pool imaging in Chagas Disease

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

Meneguetti, J.C.; Neto, J.E.; Hironaka, F.H.

1984-01-01

Myocardial involvement in Chagas Disease (CD) often leads to cardiomyopathy and heart failure. Patients (pts) with the indeterminate form (IF) have positive complement fixation test as the only abnormality. Cardiac form (CF) pts have positive serology, abnormal ECG with or without clinical symptoms. To investigate the degree of cardiac involvement in IF pts, exercise (handgrip) gated blood pool (EGBP) was performed on 77 CD male workers (46 IF, 17-50 yrs; 31 CF, 24-61 yrs) and 28 male (22-46 yrs) normal volunteers (NV). Regional wall motion (RWM), ventricular volumes (VV) and percent EF variation (..delta..%) were analysed. NV group shoed ..delta..%more » - 3.51 +- 4.86 with normal RWM and VV. IF pts showed ..delta..% - 4.27 +- 7.46 with >-10% drop in 22% of pts; RWM and VV were abnormal in 43% and 30%, respectively; at least one parameter was abnormal in 59% of pts. CF pts showed ..delta..%-10.52 +- 7.37 with >-10% drop in 59%; RWM and VV were abnormal in 79% and 83%, respectively; at least one parameter was abnormal in 86% of pts. No ..delta..% difference was found between NV and IF groups, but there was a significant difference between these two groups and CF pts. When EGBP is considered, only 41% of IF pts are normal. Also, 14% CF pts with ECG and serologic abnormalities have no cardiac dysfunction. This suggests that EGBP study should be included as a routine procedure in CD pts and used as a basis for a new classification of the disease.« less

Using Natural Language Processing to Extract Abnormal Results From Cancer Screening Reports.

PubMed

Moore, Carlton R; Farrag, Ashraf; Ashkin, Evan

2017-09-01

Numerous studies show that follow-up of abnormal cancer screening results, such as mammography and Papanicolaou (Pap) smears, is frequently not performed in a timely manner. A contributing factor is that abnormal results may go unrecognized because they are buried in free-text documents in electronic medical records (EMRs), and, as a result, patients are lost to follow-up. By identifying abnormal results from free-text reports in EMRs and generating alerts to clinicians, natural language processing (NLP) technology has the potential for improving patient care. The goal of the current study was to evaluate the performance of NLP software for extracting abnormal results from free-text mammography and Pap smear reports stored in an EMR. A sample of 421 and 500 free-text mammography and Pap reports, respectively, were manually reviewed by a physician, and the results were categorized for each report. We tested the performance of NLP to extract results from the reports. The 2 assessments (criterion standard versus NLP) were compared to determine the precision, recall, and accuracy of NLP. When NLP was compared with manual review for mammography reports, the results were as follows: precision, 98% (96%-99%); recall, 100% (98%-100%); and accuracy, 98% (96%-99%). For Pap smear reports, the precision, recall, and accuracy of NLP were all 100%. Our study developed NLP models that accurately extract abnormal results from mammography and Pap smear reports. Plans include using NLP technology to generate real-time alerts and reminders for providers to facilitate timely follow-up of abnormal results.

An Investigation of Voice Quality in Individuals with Inherited Elastin Gene Abnormalities

ERIC Educational Resources Information Center

Watts, Christopher R.; Awan, Shaheen N.; Marler, Jeffrey A.

2008-01-01

The human elastin gene (ELN) is responsible for the generation of elastic fibres in the extracellular matrix of connective tissue throughout the body, including the vocal folds. Individuals with Supravalvular aortic stenosis (SVAS) and Williams syndrome (WS) lack one normal ELN allele due to heterozygous ELN abnormalities, resulting in a…

21 CFR 864.6400 - Hematocrit measuring device.

Code of Federal Regulations, 2011 CFR

2011-04-01

..., racks, and a sealer and a holder. The device is used to measure the packed red cell volume in blood to determine whether the patient's total red cell volume is normal or abnormal. Abnormal states include anemia...). The packed red cell volume is produced by centrifuging a given volume of blood. (b) Classification...

21 CFR 864.6400 - Hematocrit measuring device.

Code of Federal Regulations, 2014 CFR

2014-04-01

..., racks, and a sealer and a holder. The device is used to measure the packed red cell volume in blood to determine whether the patient's total red cell volume is normal or abnormal. Abnormal states include anemia...). The packed red cell volume is produced by centrifuging a given volume of blood. (b) Classification...

21 CFR 864.6400 - Hematocrit measuring device.

Code of Federal Regulations, 2010 CFR

2010-04-01

..., racks, and a sealer and a holder. The device is used to measure the packed red cell volume in blood to determine whether the patient's total red cell volume is normal or abnormal. Abnormal states include anemia...). The packed red cell volume is produced by centrifuging a given volume of blood. (b) Classification...

21 CFR 864.6400 - Hematocrit measuring device.

Code of Federal Regulations, 2012 CFR

2012-04-01

..., racks, and a sealer and a holder. The device is used to measure the packed red cell volume in blood to determine whether the patient's total red cell volume is normal or abnormal. Abnormal states include anemia...). The packed red cell volume is produced by centrifuging a given volume of blood. (b) Classification...

21 CFR 864.6400 - Hematocrit measuring device.

Code of Federal Regulations, 2013 CFR

2013-04-01

..., racks, and a sealer and a holder. The device is used to measure the packed red cell volume in blood to determine whether the patient's total red cell volume is normal or abnormal. Abnormal states include anemia...). The packed red cell volume is produced by centrifuging a given volume of blood. (b) Classification...

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

ERIC Educational Resources Information Center

Phelps, William R.

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

Craniofacial abnormalities among patients with Edwards Syndrome

PubMed Central

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

2013-01-01

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

Diffusion Tensor Imaging in Children with Fetal Alcohol Spectrum Disorders

PubMed Central

Wozniak, Jeffrey R.; Mueller, Bryon A.; Chang, Pi-Nian; Muetzel, Ryan L.; Caros, Lydia; Lim, Kelvin O.

2010-01-01

Background Prenatal alcohol exposure, which is associated with macrostructural brain abnormalities, neurocognitive deficits, and behavioral disturbances, is characterized as fetal alcohol syndrome (FAS) in severe cases. The only published study thus far using diffusion tensor imaging (DTI) showed microstructural abnormalities in patients with FAS. The current study investigated whether similar abnormalities are present in less severely affected, prenatally exposed patients who did not display all of the typical FAS physical stigmata. Methods Subjects included 14 children, ages 10 to 13, with fetal alcohol spectrum disorders (FASD) and 13 matched controls. Cases with full-criteria FAS, mental retardation, or microcephaly were excluded. Subjects underwent MRI scans including DTI. Results Although cases with microcephaly were excluded, there was a trend toward smaller total cerebral volume in the FASD group (p = 0.057, Cohen’s d effect size = 0.73). Subjects with FASD had greater mean diffusivity (MD) in the isthmus of the corpus callosum than controls (p = 0.013, effect size = 1.05), suggesting microstructural abnormalities in this region. There were no group differences in 5 other regions of the corpus callosum. Correlations between MD in the isthmus and facial dysmorphology were nonsignificant. Conclusions These results suggest that even relatively mild forms of fetal alcohol exposure may be associated with microstructural abnormalities in the posterior corpus callosum that are detectable with DTI. PMID:17010147

The incidence of chromosome abnormalities in neonates with structural heart disease.

PubMed

Dykes, John C; Al-mousily, Mohammad F; Abuchaibe, Eda-Cristina; Silva, Jennifer N; Zadinsky, Jennifer; Duarte, Daniel; Welch, Elizabeth

2016-04-01

This study was conducted to determine the prevalence of chromosomal anomalies in newborns with structural heart disease admitted to the cardiac intensive care unit (CICU) at Nicklaus Children's Hospital (NCH). A retrospective review identified newborns age 30 days or less admitted to NCH CICU between 2004 and 2010. Patients with structural heart disease who required admission to our CICU and received karyotype or karyotype and fluorescent in situ hybridization (FISH) testing were included in the study. All patients were examined for the presence of dysmorphic features. Four hundred and eighty-two patients met the criteria for the study; 405 (84%) received both karyotype and FISH. Chromosome abnormalities were present in 86 (17.8%) patients. Syndromes accounted for 20 (5.1%) of those with normal chromosomes. Dysmorphic features were seen in 79.1% of patients with abnormal chromosomes and 25.5% of those with normal chromosomes. All patients with syndromes were dysmorphic. Race and gender did not significantly affect the incidence of genetic abnormalities. Chromosome abnormalities, including syndromes, are prevalent in newborns with congenital heart disease. Further research is needed to evaluate the utility of cytogenetic screening in all children with congenital heart disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Melatonin in autism spectrum disorders.

PubMed

Rossignol, Daniel A; Frye, Richard E

2014-01-01

Melatonin is an endogenous neurohormone produced predominantly in the pineal gland. Recent studies have implicated abnormalities in melatonin physiology and the circadian rhythm in individuals with autism spectrum disorders (ASD). These physiological abnormalities include lower nighttime melatonin or melatonin metabolite concentrations in ASD compared to controls. These abnormalities in melatonin concentrations may be directly attributed to variations in melatonin pathway physiology as both functional and genetic variations in this pathway have been reported in children with ASD. Four studies have observed a correlation between abnormal melatonin concentrations and the severity of autistic behaviors. Twenty clinical studies have reported improvements in sleep parameters with exogenous melatonin supplementation in ASD, including longer sleep duration, less nighttime awakenings and quicker sleep onset. A recent meta-analysis of five randomized, double-blind, placebo-controlled crossover trials examining exogenous melatonin supplementation in ASD reported significant improvements with large effect sizes in total sleep duration and sleep onset latency compared to both baseline and placebo. Six studies reported that the nighttime administration of exogenous melatonin was associated with better daytime behaviors. Four studies reported improvements with exogenous melatonin supplementation when other sleep medications had previously failed. Adverse effects of melatonin were minimal to none in the twenty treatment studies. These studies indicate that the administration of exogenous melatonin for abnormal sleep parameters in ASD is evidence-based. Further studies examining optimal effective dosing and timing of dosing are warranted.

Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

PubMed Central

Maurer, Maria; Ebner, Thomas; Puchner, Manuela; Mayer, Richard Bernhard; Shebl, Omar; Oppelt, Peter; Duba, Hans-Christoph

2015-01-01

Background Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF) technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. Chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of chromosomal abnormalities in preimplantation embryos with developmental arrest. Materials and Methods This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH) with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011. Results Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic chromosomal complement. Conclusion Nearly 70% of arrested embryos exhibit chromosomal errors, making chromosomal abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting. PMID:26644858

Detecting rare, abnormally large grains by x-ray diffraction

DOE PAGES

Boyce, Brad L.; Furnish, Timothy Allen; Padilla, H. A.; ...

2015-07-16

Bimodal grain structures are common in many alloys, arising from a number of different causes including incomplete recrystallization and abnormal grain growth. These bimodal grain structures have important technological implications, such as the well-known Goss texture which is now a cornerstone for electrical steels. Yet our ability to detect bimodal grain distributions is largely confined to brute force cross-sectional metallography. The present study presents a new method for rapid detection of unusually large grains embedded in a sea of much finer grains. Traditional X-ray diffraction-based grain size measurement techniques such as Scherrer, Williamson–Hall, or Warren–Averbach rely on peak breadth andmore » shape to extract information regarding the average crystallite size. However, these line broadening techniques are not well suited to identify a very small fraction of abnormally large grains. The present method utilizes statistically anomalous intensity spikes in the Bragg peak to identify regions where abnormally large grains are contributing to diffraction. This needle-in-a-haystack technique is demonstrated on a nanocrystalline Ni–Fe alloy which has undergone fatigue-induced abnormal grain growth. In this demonstration, the technique readily identifies a few large grains that occupy <0.00001 % of the interrogation volume. Finally, while the technique is demonstrated in the current study on nanocrystalline metal, it would likely apply to any bimodal polycrystal including ultrafine grained and fine microcrystalline materials with sufficiently distinct bimodal grain statistics.« less

Yield of diagnostic procedures for invasive fungal infections in neutropenic febrile patients with chest computed tomography abnormalities.

PubMed

Ho, Dora Y; Lin, Margaret; Schaenman, Joanna; Rosso, Fernando; Leung, Ann N C; Coutre, Steven E; Sista, Ramachandra R; Montoya, Jose G

2011-01-01

Haematological patients with neutropenic fever are frequently evaluated with chest computed tomography (CT) to rule out invasive fungal infections (IFI). We retrospectively analysed data from 100 consecutive patients with neutropenic fever and abnormal chest CT from 1998 to 2005 to evaluate their chest CT findings and the yield of diagnostic approaches employed. For their initial CTs, 79% had nodular opacities, with 24.1% associated with the halo sign. Other common CT abnormalities included pleural effusions (48%), ground glass opacities (37%) and consolidation (31%). The CT findings led to a change in antifungal therapy in 54% of the patients. Fifty-six patients received diagnostic procedures, including 46 bronchoscopies, 25 lung biopsies and seven sinus biopsies, with a diagnostic yield for IFI of 12.8%, 35.0% and 83.3%, respectively. In conclusion, chest CT plays an important role in the evaluation of haematological patients with febrile neutropenia and often leads to a change in antimicrobial therapy. Pulmonary nodules are the most common radiological abnormality. Sinus or lung biopsies have a high-diagnostic yield for IFI as compared to bronchoscopy. Patients with IFI may not have sinus/chest symptoms, and thus, clinicians should have a low threshold for performing sinus/chest imaging, and if indicated and safe, a biopsy of the abnormal areas. © 2009 Blackwell Verlag GmbH.

Probability of regenerating a normal limb after bite injury in the Mexican axolotl (Ambystoma mexicanum)

PubMed Central

Thompson, Sierra; Muzinic, Laura; Muzinic, Christopher; Niemiller, Matthew L.

2014-01-01

Abstract Multiple factors are thought to cause limb abnormalities in amphibian populations by altering processes of limb development and regeneration. We examined adult and juvenile axolotls (Ambystoma mexicanum) in the Ambystoma Genetic Stock Center (AGSC) for limb and digit abnormalities to investigate the probability of normal regeneration after bite injury. We observed that 80% of larval salamanders show evidence of bite injury at the time of transition from group housing to solitary housing. Among 717 adult axolotls that were surveyed, which included solitary‐housed males and group‐housed females, approximately half presented abnormalities, including examples of extra or missing digits and limbs, fused digits, and digits growing from atypical anatomical positions. Bite injury probably explains these limb defects, and not abnormal development, because limbs with normal anatomy regenerated after performing rostral amputations. We infer that only 43% of AGSC larvae will present four anatomically normal looking adult limbs after incurring a bite injury. Our results show regeneration of normal limb anatomy to be less than perfect after bite injury. PMID:25745564

Risk of specific congenital abnormalities in offspring of women with diabetes.

PubMed

Nielsen, G L; Nørgard, B; Puho, E; Rothman, K J; Sørensen, H T; Czeizel, A E

2005-06-01

To assess the extent to which the increased risk of congenital abnormalities seen in women with pre-gestational insulin-treated diabetes mellitus is unspecific or related to the embryology of specific organs. Cases with congenital abnormalities were identified in the population-based Hungarian Congenital Abnormality Registry from 1980 to 1996 with two newborn children without congenital abnormality selected from the National Birth Registry as controls. We adjusted for parity, maternal age, and use of antipsychotic drugs. Among cases we found 63/22,843 babies with maternal diabetes compared with 50/38,151 in the control group [adjusted prevalence odds ratio (POR) 2.1; 95% CI 1.5-3.1]. The association was strongest for the following congenital abnormalities: renal agenesis (POR: 14.8; 95% CI, 3.5-62.1), obstructive congenital abnormalities of the urinary tract (POR: 4.3; 95% CI, 1.3-13.9), cardiovascular congenital abnormalities (POR: 3.4; 95% CI, 2.0-5.7), and multiple congenital abnormalities (POR: 5.0; 95% CI, 2.4-10.2). These data indicate that pre-gestational maternal diabetes is associated with strong teratogenic effects on the kidney, urinary tract, and heart, and strongly associated with multiple congenital abnormalities. We found no material association between diabetes and spinal congenital abnormalities and limb deficiencies.

Granulocyte, monocyte and blast immunophenotype abnormalities in acute myeloid leukemia with myelodysplasia-related changes.

PubMed

Ayar, Sonali P; Ravula, Sreelakshmi; Polski, Jacek M

2014-01-01

Little literature exists regarding granulocyte and monocyte immunophenotype abnormalities in Acute Myeloid Leukemia (AML). We hypothesized that granulocyte and monocyte immunophenotype abnormalities are common in AML, and especially in AML with myelodysplasia-related changes (AMLMRC). Bone marrow or peripheral blood specimens from 48 cases of AML and 22 cases of control specimens were analyzed by flow cytometric immunophenotyping. Granulocyte, monocyte, and blast immunophenotype abnormalities were compared between cases of AML versus controls and AMLMRC versus AML without myelodysplasia. The results revealed that granulocyte, monocyte, and blast abnormalities were more common in AMLMRC than in AML without myelodysplasia or control cases. The difference reached statistical significance for abnormalities of granulocytes and abnormalities in all cells of interest. From the numerous individual abnormalities, only CD25 expression in blasts was significantly more prevalent in AMLMRC in this study. We conclude that detection of granulocyte, monocyte, and blast immunophenotype abnormalities can contribute to the diagnosis of AMLMRC.

A sonographic approach to prenatal classification of congenital spine anomalies

PubMed Central

Robertson, Meiri; Sia, Sock Bee

2015-01-01

Abstract Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound. PMID:28191204

DSP30 and interleukin-2 as a mitotic stimulant in B-cell disorders including those with a low disease burden.

PubMed

Dun, Karen A; Riley, Louise A; Diano, Giuseppe; Adams, Leanne B; Chiu, Eleanor; Sharma, Archna

2018-05-01

Chromosome abnormalities detected during cytogenetic investigations for B-cell malignancy offer prognostic information that can have wide ranging clinical impacts on patients. These impacts may include monitoring frequency, treatment type, and disease staging level. The use of the synthetic oligonucleotide DSP30 combined with interleukin 2 (IL2) has been described as an effective mitotic stimulant in B-cell disorders, not only in chronic lymphocytic leukemia (CLL) but also in a range of other B-cell malignancies. Here, we describe the comparison of two B-cell mitogens, lipopolysaccharide (LPS), and DSP30 combined with IL2 as mitogens in a range of common B-cell disorders excluding CLL. The results showed that DSP30/IL2 was an effective mitogen in mature B-cell disorders, revealing abnormal cytogenetic results in a range of B-cell malignancies. The abnormality rate increased when compared to the use of LPS to 64% (DSP30/IL2) from 14% (LPS). In a number of cases the disease burden was proportionally very low, less than 10% of white cells. In 37% of these cases, the DSP30 culture revealed abnormal results. Importantly, we also obtained abnormal conventional cytogenetics results in 3 bone marrow cases in which immunophenotyping showed an absence of an abnormal B-cell clone. In these cases, the cytogenetics results correlated with the provisional diagnosis and altered their staging level. The use of DSP30 and IL2 is recommended for use in many B-cell malignancies as an effective mitogen and their use has been shown to enable successful culture of the malignant clone, even at very low levels of disease. © 2018 Wiley Periodicals, Inc.

[Characteristics of pregnancy and delivery of fetuses affected by either central nervous system malformations or chromosomal abnormalities].

PubMed

Friedler, Jordana Mashiach; Mazor, Moshe; Shoham-Vardi, Ilana; Bashiri, Asher

2011-11-01

To determine whether fetuses affected by either chromosomal abnormalities or central nervous system (CNS) malformations are prone to complications during pregnancy and delivery. In this study, 320 singleton pregnancies with CNS malformations and 133 singleton pregnancies with chromosomal abnormaLities were compared with 149,112 singleton births without any known congenital anomalies. Exclusion criteria were: births with other congenital anomalies or malformations, pregnancies Lacking prenatal care and multiple pregnancies. Data was obtained using the computerized birth discharge records. The statistical analysis was performed with the SPSS package. There were no statistically significant differences in maternal age, ethnicity, uterine anomalies or parity. The ratio of general anesthesia was almost double in the study groups compared to the control group: 25% in the CNS malformation group (RR 2.617, CI 2.031-3.372) and 25.6% in the chromosomal abnormality group (RR 2.696, CI 1.825-3.982) and 11.3% in the control group (p < 0.001). There were nearly double cesarean sections (CS) rates in both study groups: 21.5% in the CNS malformation group, 20.3% in the chromosomal abnormaLity group and 12% in the control group. A logistic regression model that included previous CS, maLpresentation, non-reassuring fetal heart monitor (NRFHR) and presence of a malformation, concluded that the presence of a malformation was not an independent risk factor for CS. However, indirect causes, such as malpresentation (4.34 OR), were independently associated with the malformations. Fetuses affected by either CNS malformations or chromosomal abnormalities have a higher rate of pregnancy and delivery complications, including those which increase the risk of maternal morbidity and mortality.

[Electrocardiographic abnormalities in acute olanzapine poisonings].

PubMed

Ciszowski, Krzysztof; Sein Anand, Jacek

2011-01-01

Olanzapine is an atypical antipsychotic used for many years in the treatment of schizophrenia and bipolar disorder. Poisonings with this medicine can results with cardiotoxic effects in the form of ECG abnormalities. To evaluate the nature and incidence of electrocardiographic abnormalities in patients with acute olanzapine poisoning. 23 adult (mean age 38.4 +/- 15.5 years) patients with acute olanzapine poisoning, including 10 men (30.4 +/- 8.1 years) and 11 women (45.7 +/- 17.2 years), where 1 man and 1 woman were poisoned twice. The toxic serum level of olanzapine (above 100 ng/mL) was confirmed in each patient. Evaluation of electrocardiograms performed in patients in the first day of hospitalization with automatic measurement of durations of PQ, QRS and QTc and the identification of arrhythmias and conduction disorders on the basis of visual analysis of the ECG waveforms. Statistical analysis of the results using the methods of descriptive statistics. The mean durations of PQ, QRS and QTc in the study group were as follows: 135 +/- 23 ms, 91 +/- 12 ms, and 453 +/- 48 ms, respectively. The most common ECG abnormalities were prolonged QTc and supraventricular tachycardia (including sinus tachycardia) - each 22%; less common were ST-T changes (17%) and supraventricular premature complexes (9%), and only in individual cases (4%) ventricular premature complexes, bundle branch block, sinus bradycardia and atrial fibrillation were present. In the course of acute olanzapine poisonings: (1) prolonged QTc interval is quite common, but rarely leads to torsade de pointes tachycardia; (2) fast supraventricular rhythms are also common, but rarely cause irregular tachyarrhythmias, eg. atrial fibrillation; (3) conduction disorders (atrioventricular blocks, bundle branch blocks) are not typical abnormalities; (4) the observed ECG abnormalities emphasize the need of continuous ECG monitoring in these patients.

Rate of abnormal osteoarticular radiographic findings in pediatric patients.

PubMed

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

2001-04-01

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

Chronic Peripheral Inflammation is Associated With Cognitive Impairment in Schizophrenia: Results From the Multicentric FACE-SZ Dataset

PubMed Central

Bulzacka, Ewa; Boyer, Laurent; Schürhoff, Franck; Godin, Ophélia; Berna, Fabrice; Brunel, Lore; Andrianarisoa, Méja; Aouizerate, Bruno; Capdevielle, Delphine; Chéreau-Boudet, Isabelle; Chesnoy-Servanin, Gabrielle; Danion, Jean-Marie; Dubertret, Caroline; Dubreucq, Julien; Faget, Catherine; Gabayet, Franck; Le Gloahec, Tifenn; Llorca, Pierre-Michel; Mallet, Jasmina; Misdrahi, David; Rey, Romain; Richieri, Raphaëlle; Passerieux, Christine; Roux, Paul; Yazbek, Hanan; Leboyer, Marion; Fond, Guillaume

2016-01-01

Objectives: Inflammation, measured by abnormal blood C-reactive protein (CRP) level, has been described in schizophrenia (SZ), being inconsistently related to impaired cognitive functions. The aim of the present study is to investigate cognitive impairment associated with abnormal CRP levels in a large multi-centric sample of community-dwelling SZ patients, using a comprehensive neuropsychological battery. Method: Three hundred sixty-nine community-dwelling stable SZ subjects (76.2% men, mean age 32.7 y) were included and tested with a comprehensive battery of neuropsychological tests. Abnormal CRP level was defined as >3mg/L. Results: Multiple factor analysis revealed that abnormal CRP levels, found in 104 patients (28.2%), were associated with impaired General Intellectual Ability and Abstract Reasoning (aOR = 0.56, 95% CI 0.35–0.90, P = .014), independently of age, sex, education level, psychotic symptomatology, treatments, and addiction comorbidities. Abnormal CRP levels were also associated with the decline of all components of working memory (respectively effect size [ES] = 0.25, P = .033; ES = 0.27, P = .04; ES = 0.33, P = .006; and ES = 0.38, P = .004) and a wide range of other impaired cognitive functions, including memory (ES = 0.26, P = .026), learning abilities (ES = 0.28, P = .035), semantic memory (ES = 0.26, P = .026), mental flexibility (ES = 0.26, P = .044), visual attention (ES = 0.23, P = .004) and speed of processing (ES = 0.23, P = .043). Conclusion: Our results suggest that abnormal CRP level is associated with cognitive impairment in SZ. Evaluating the effectiveness of neuroprotective anti-inflammatory strategies is needed in order to prevent cognitive impairment in SZ. PMID:27143795

Usefulness of an abnormal ankle-brachial index for detecting multivessel coronary disease in patients with acute coronary syndrome.

PubMed

Núñez, Daniel; Morillas, Pedro; Quiles, Juan; Cordero, Alberto; Guindo, Josep; Soria, Federico; Mazón, Pilar; Lekuona, Iñaki; Rodríguez-Padial, Luis; Llácer, Angel; González-Juanatey, José Ramón; Bertomeu, Vicente

2010-01-01

The presence of peripheral arterial disease in patients with coronary artery disease is associated with a poor cardiovascular outcome. However, the majority of affected patients are asymptomatic and the condition is underdiagnosed. The ankle-brachial index (ABI) provides a simple method of diagnosis. The aim of this study was to assess the usefulness of an abnormal ABI for identifying multivessel coronary artery disease in patients with acute coronary syndrome (ACS). We analyzed data on all ACS patients included in the PAMISCA multicenter study (with 94 participating hospitals) who underwent catheterization during admission. Patients were diagnosed with multivessel coronary disease if two or more major epicardial vessels or the left main coronary artery, or both, were affected. An ABI 1.4 was considered abnormal. The study included 1031 patients with a mean age of 67.7 years. Of these, 542 had multivessel disease (52.6%). Compare with those without multivessel disease, these patients were older (66.6 years vs. 62.6 years; P< .001), had higher prevalences of hypertension (65.9% vs. 56.2%; P< .005), diabetes mellitus (40.6% vs. 26.0%; P< .001) and hypercholesterolemia (89.1% vs. 80.4%; P< .001), and were more likely to have a history of cardiovascular disease (30.1% vs. 13.9%; P< .001) or an abnormal ABI (45.4% vs. 30.3%; P< .001). Multivariate analysis showed that the presence of an abnormal ABI was associated with an increased risk of multivessel disease (odds ratio=1.58; 95% confidence interval, 1.16-2.15; P< .05). In patients with ACS, an abnormal ABI was independently associated with the risk of multivessel coronary artery disease.

Hysteroscopy

MedlinePlus

... for hysteroscopy is to find the cause of abnormal uterine bleeding. Abnormal bleeding can mean that a woman’s menstrual ... menstrual periods also is abnormal (see the FAQ Abnormal Uterine Bleeding) . Hysteroscopy also is used in the following situations: • ...

Prevalence, distribution, and progression of radiographic abnormalities in the lungs of cold-stunned Kemp's ridley sea turtles (Lepidochelys kempii): 89 cases (2002-2005).

PubMed

Stockman, Jonathan; Innis, Charles J; Solano, Mauricio; O'Sullivan Brisson, Jennifer; Kass, Philip H; Tlusty, Michael F; Weber, E Scott

2013-03-01

To evaluate the prevalence, distribution, and progression of radiographic abnormalities in the lungs of cold-stunned Kemp's ridley sea turtles (Lepidochelys kempii) and associations between these abnormalities and body weight, carapace length, and hematologic and plasma biochemical variables. Retrospective case series. 89 cold-stunned juvenile Kemp's ridley sea turtles. Medical records were reviewed. Dorsoventral and horizontal beam craniocaudal radiographs were evaluated for the presence, distribution, and progression of lung abnormalities. Turtles were categorized as having radiographically normal or abnormal lungs; those with abnormalities detected were further categorized according to the distribution of abnormalities (left lung, right lung, or both affected). Body weight, carapace length, and hematologic and plasma biochemical data were compared among categories. 48 of 89 (54%) turtles had radiographic abnormalities of the lungs. Unilateral abnormalities of the right or left lung were detected in 14 (16%) and 2 (2%), respectively; both lungs were affected in 32 (36%). Prevalence of unilateral abnormalities was significantly greater for the right lung than for the left lung. Evaluation of follow-up radiographs indicated clinical improvement over time for most (18/31 [58%]) turtles. Prevalence of bilateral radiographic abnormalities was positively correlated with body weight and carapace length. There was no significant association between radiographic category and hematologic or plasma biochemical variables. Radiographic abnormalities of the lungs were commonly detected in cold-stunned Kemp's ridley turtles. Results of this study may aid clinicians in developing effective diagnostic and treatment plans for these patients.

The prevalence of chromosomal abnormalities in subgroups of infertile men.

PubMed

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

2012-01-01

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

Handwriting analysis indicates spontaneous dyskinesias in neuroleptic naïve adolescents at high risk for psychosis.

PubMed

Dean, Derek J; Teulings, Hans-Leo; Caligiuri, Michael; Mittal, Vijay A

2013-11-21

Growing evidence suggests that movement abnormalities are a core feature of psychosis. One marker of movement abnormality, dyskinesia, is a result of impaired neuromodulation of dopamine in fronto-striatal pathways. The traditional methods for identifying movement abnormalities include observer-based reports and force stability gauges. The drawbacks of these methods are long training times for raters, experimenter bias, large site differences in instrumental apparatus, and suboptimal reliability. Taking these drawbacks into account has guided the development of better standardized and more efficient procedures to examine movement abnormalities through handwriting analysis software and tablet. Individuals at risk for psychosis showed significantly more dysfluent pen movements (a proximal measure for dyskinesia) in a handwriting task. Handwriting kinematics offers a great advance over previous methods of assessing dyskinesia, which could clearly be beneficial for understanding the etiology of psychosis.

[Evaluation of echocardiography for determining left ventricular function].

PubMed

Wu, H; Zhu, W; Xu, J

1994-02-01

Left ventricular ejection fraction (LVEF) was calculated by echocardiography and gate blood pool (GBP) in 33 patients including those with coronary heart disease, acute and old myocardiac infarction, cardiomyopathy or mitral prolapse. Fourteen of the 33 had segmental wall motion abnormalities and 19 had non-segmental wall motion abnormalities. The results of comparing echocardiography and GBP showed that the former could substitute for other invasive and expensive examinations to determine LVEF (r = 0.804-0.964 in the 5 echocardiography methods used). Mod-Simpsons method of cross-sectioned echocardiography was the most accurate echocardiographic method (r = 0.964, sensitivity 90.9%) in all patients. The Teich method of M-mode echocardiography was useful in patients who had non-segmental wall motion abnormalities only (r = 0.957, sensitivity 94.7%) but not in patients who had segmental wall motion abnormalities (r = 0.703, sensitivity 42.9%).

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

PubMed Central

Dean, Derek J.; Teulings, Hans-Leo; Caligiuri, Michael; Mittal, Vijay A.

2013-01-01

Growing evidence suggests that movement abnormalities are a core feature of psychosis. One marker of movement abnormality, dyskinesia, is a result of impaired neuromodulation of dopamine in fronto-striatal pathways. The traditional methods for identifying movement abnormalities include observer-based reports and force stability gauges. The drawbacks of these methods are long training times for raters, experimenter bias, large site differences in instrumental apparatus, and suboptimal reliability. Taking these drawbacks into account has guided the development of better standardized and more efficient procedures to examine movement abnormalities through handwriting analysis software and tablet. Individuals at risk for psychosis showed significantly more dysfluent pen movements (a proximal measure for dyskinesia) in a handwriting task. Handwriting kinematics offers a great advance over previous methods of assessing dyskinesia, which could clearly be beneficial for understanding the etiology of psychosis. PMID:24300590

Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.

PubMed

Lee, Yujung; Kim, Changshin; Park, YoungJoon; Pyun, Jung-A; Kwack, KyuBum

2016-12-01

Premature ovarian failure (POF) is characterized by heterogeneous genetic causes such as chromosomal abnormalities and variants in causal genes. Recently, development of techniques made next generation sequencing (NGS) possible to detect genome wide variants including chromosomal abnormalities. Among 37 Korean POF patients, XY karyotype with distal part deletions of Y chromosome, Yp11.32-31 and Yp12 end part, was observed in two patients through NGS. Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. Additionally, the two POF patients had no mutation in SRY but three non-synonymous variants were detected in genes regarding sex reversal. These findings suggest candidate causes of POF and sex reversal and show the propriety of NGS to approach the heterogeneous pathogenesis of POF. Copyright © 2016 Elsevier Inc. All rights reserved.

Idiopathic toe walking.

PubMed

Oetgen, Matthew E; Peden, Sean

2012-05-01

Toe walking is a bilateral gait abnormality in which a normal heel strike is absent and most weight bearing occurs through the forefoot. This abnormality may not be pathologic in patients aged <2 years, but it is a common reason for referral to an orthopaedic surgeon. Toe walking can be caused by several neurologic and developmental abnormalities and may be the first sign of a global developmental problem. Cases that lack a definitive etiology are categorized as idiopathic. A detailed history, with careful documentation of the developmental history, and a thorough physical examination are required in the child with a primary report of toe walking. Treatment is based on age and the severity of the abnormality. Management includes observation, stretching, casting, bracing, chemodenervation, and surgical lengthening of the gastrocnemius-soleus complex and/or Achilles tendon. An understanding of idiopathic toe walking as well as treatment options and their outcomes can help the physician individualize treatment to achieve optimal results.

[Marshmallow for investigating functional disturbances of the esophageal body].

PubMed

Keren, S; Argaman, E

1992-09-01

Manometric studies using water boluses do not always demonstrate disturbances in esophageal motility. We tested the use of a marshmallow bolus to induce abnormal manometric patterns in patients with dysphagia in whom manometric studies using water boluses were normal or nearly so. The study group included 12 normal volunteers and 22 patients with dysphagia and nearly normal manometric studies. Pressure was recorded along the esophageal body using 10 "wet" swallows followed by 10 "solid" swallows of marshmallow. In normal subjects there were fewer abnormal contractions after solid swallows than after wet swallows. In 15 patients solid swallows induced abnormal motility patterns which were not observed after wet swallows. The probability of inducing abnormal contractions in patients after solid swallows is significantly greater than after wet swallows (p < 0.0001). Solid swallowing is therefore useful in evaluating functional disturbances of the esophagus in patients with dysphagia.

ANOMALOUS HEAD POSTURES IN STRABISMUS AND NYSTAGMUS - DIAGNOSIS AND MANAGEMENT -

PubMed Central

Teodorescu, Luminita

2015-01-01

Abnormal head positions are adopted in order to improve visual acuity, to avoid diplopia or to obtain a more comfortable binocular vision. The head can be turned or tilted toward right or left, with the chin rotated up or downwards or combination of these positions. The ophthalmologic examination including the assessment of versions leads to the diagnosis. When versions are free, the cause may be congenital nystagmus or strabismus with large angle. When versions are limited we suspect paralytic or restrictive strabismus. The head tilted to one shoulder suggests cyclotropia (IV Nerve Palsy) or congenital nystagmus. We present few of the above cases. An adequate surgical treatment can improve or correct the ocular deviation, diplopia and the abnormal head posture. Conclusions: The abnormal head posture must be assessed and treated early in order to correct the ocular position and head posture. All patient presenting abnormal head position HAD TO BE investigated by an ophthalmologist. PMID:26978880

Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta-analysis.

PubMed

Khalil, A; Suff, N; Thilaganathan, B; Hurrell, A; Cooper, D; Carvalho, J S

2014-01-01

Studies have demonstrated an association between congenital heart disease (CHD) and neurodevelopmental delay. Neuroimaging studies have also demonstrated a high incidence of preoperative brain abnormalities. The aim of this study was to perform a systematic review to quantify the non-surgical risk of brain abnormalities and of neurodevelopmental delay in infants with CHD. MEDLINE, EMBASE and The Cochrane Library were searched electronically without language restrictions, utilizing combinations of the terms congenital heart, cardiac, neurologic, neurodevelopment, magnetic resonance imaging, ultrasound, neuroimaging, autopsy, preoperative and outcome. Reference lists of relevant articles and reviews were hand-searched for additional reports. Cohort and case-control studies were included. Studies reporting neurodevelopmental outcomes and/or brain lesions on neuroimaging in infants with CHD before heart surgery were included. Cases of chromosomal or genetic abnormalities, case reports and editorials were excluded. Between-study heterogeneity was assessed using the I(2) test. The search yielded 9129 citations. Full text was retrieved for 119 and the following were included in the review: 13 studies (n = 425 cases) reporting on brain abnormalities either preoperatively or in those who did not undergo congenital cardiac surgery and nine (n = 512 cases) reporting preoperative data on neurodevelopmental assessment. The prevalence of brain lesions on neuroimaging was 34% (95% CI, 24-46; I(2) = 0%) in transposition of the great arteries, 49% (95% CI, 25-72; I(2) = 65%) in left-sided heart lesions and 46% (95% CI, 40-52; I(2) =18.1%) in mixed/unspecified cardiac lesions, while the prevalence of neurodevelopmental delay was 42% (95% CI, 34-51; I(2) = 68.9). In the absence of chromosomal or genetic abnormalities, infants with CHD are at increased risk of brain lesions as revealed by neuroimaging and of neurodevelopmental delay. These findings are independent of the surgical risk, but it is unclear whether the time of onset is fetal or postnatal. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

Adolescent toluene inhalation in rats affects white matter maturation with the potential for recovery following abstinence.

PubMed

Duncan, Jhodie Rubina; Dick, Alec Lindsay Ward; Egan, Gary; Kolbe, Scott; Gavrilescu, Maria; Wright, David; Lubman, Dan Ian; Lawrence, Andrew John

2012-01-01

Inhalant misuse is common during adolescence, with ongoing chronic misuse associated with neurobiological and cognitive abnormalities. While human imaging studies consistently report white matter abnormalities among long-term inhalant users, longitudinal studies have been lacking with limited data available regarding the progressive nature of such abnormalities, including the potential for recovery following periods of sustained abstinence. We exposed adolescent male Wistar rats (postnatal day 27) to chronic intermittent inhaled toluene (3,000 ppm) for 1 hour/day, 3 times/week for 8 weeks to model abuse patterns observed in adolescent and young adult human users. This dosing regimen resulted in a significant retardation in weight gain during the exposure period (p<0.05). In parallel, we performed longitudinal magnetic resonance imaging (T₂-weighted) and diffusion tensor imaging prior to exposure, and after 4 and 8 weeks, to examine the integrity of white matter tracts, including the anterior commissure and corpus callosum. We also conducted imaging after 8 weeks of abstinence to assess for potential recovery. Chronic intermittent toluene exposure during adolescence and early adulthood resulted in white matter abnormalities, including a decrease in axial (p<0.05) and radial (p<0.05) diffusivity. These abnormalities appeared region-specific, occurring in the anterior commissure but not the corpus callosum and were not present until after at least 4 weeks of exposure. Toluene-induced effects on both body weight and white matter parameters recovered following abstinence. Behaviourally, we observed a progressive decrease in rearing activity following toluene exposure but no difference in motor function, suggesting cognitive function may be more sensitive to the effects of toluene. Furthermore, deficits in rearing were present by 4 weeks suggesting that toluene may affect behaviour prior to detectable white matter abnormalities. Consequently, exposure to inhalants that contain toluene during adolescence and early adulthood appear to differentially affect white matter maturation and behavioural outcomes, although recovery can occur following abstinence.

Developing Software to “Track and Catch” Missed Follow-up of Abnormal Test Results in a Complex Sociotechnical Environment

PubMed Central

Smith, M.; Murphy, D.; Laxmisan, A.; Sittig, D.; Reis, B.; Esquivel, A.; Singh, H.

2013-01-01

Summary Background Abnormal test results do not always receive timely follow-up, even when providers are notified through electronic health record (EHR)-based alerts. High workload, alert fatigue, and other demands on attention disrupt a provider’s prospective memory for tasks required to initiate follow-up. Thus, EHR-based tracking and reminding functionalities are needed to improve follow-up. Objectives The purpose of this study was to develop a decision-support software prototype enabling individual and system-wide tracking of abnormal test result alerts lacking follow-up, and to conduct formative evaluations, including usability testing. Methods We developed a working prototype software system, the Alert Watch And Response Engine (AWARE), to detect abnormal test result alerts lacking documented follow-up, and to present context-specific reminders to providers. Development and testing took place within the VA’s EHR and focused on four cancer-related abnormal test results. Design concepts emphasized mitigating the effects of high workload and alert fatigue while being minimally intrusive. We conducted a multifaceted formative evaluation of the software, addressing fit within the larger socio-technical system. Evaluations included usability testing with the prototype and interview questions about organizational and workflow factors. Participants included 23 physicians, 9 clinical information technology specialists, and 8 quality/safety managers. Results Evaluation results indicated that our software prototype fit within the technical environment and clinical workflow, and physicians were able to use it successfully. Quality/safety managers reported that the tool would be useful in future quality assurance activities to detect patients who lack documented follow-up. Additionally, we successfully installed the software on the local facility’s “test” EHR system, thus demonstrating technical compatibility. Conclusion To address the factors involved in missed test results, we developed a software prototype to account for technical, usability, organizational, and workflow needs. Our evaluation has shown the feasibility of the prototype as a means of facilitating better follow-up for cancer-related abnormal test results. PMID:24155789

Adolescent Toluene Inhalation in Rats Affects White Matter Maturation with the Potential for Recovery Following Abstinence

PubMed Central

Egan, Gary; Kolbe, Scott; Gavrilescu, Maria; Wright, David; Lubman, Dan Ian; Lawrence, Andrew John

2012-01-01

Inhalant misuse is common during adolescence, with ongoing chronic misuse associated with neurobiological and cognitive abnormalities. While human imaging studies consistently report white matter abnormalities among long-term inhalant users, longitudinal studies have been lacking with limited data available regarding the progressive nature of such abnormalities, including the potential for recovery following periods of sustained abstinence. We exposed adolescent male Wistar rats (postnatal day 27) to chronic intermittent inhaled toluene (3,000 ppm) for 1 hour/day, 3 times/week for 8 weeks to model abuse patterns observed in adolescent and young adult human users. This dosing regimen resulted in a significant retardation in weight gain during the exposure period (p<0.05). In parallel, we performed longitudinal magnetic resonance imaging (T2-weighted) and diffusion tensor imaging prior to exposure, and after 4 and 8 weeks, to examine the integrity of white matter tracts, including the anterior commissure and corpus callosum. We also conducted imaging after 8 weeks of abstinence to assess for potential recovery. Chronic intermittent toluene exposure during adolescence and early adulthood resulted in white matter abnormalities, including a decrease in axial (p<0.05) and radial (p<0.05) diffusivity. These abnormalities appeared region-specific, occurring in the anterior commissure but not the corpus callosum and were not present until after at least 4 weeks of exposure. Toluene-induced effects on both body weight and white matter parameters recovered following abstinence. Behaviourally, we observed a progressive decrease in rearing activity following toluene exposure but no difference in motor function, suggesting cognitive function may be more sensitive to the effects of toluene. Furthermore, deficits in rearing were present by 4 weeks suggesting that toluene may affect behaviour prior to detectable white matter abnormalities. Consequently, exposure to inhalants that contain toluene during adolescence and early adulthood appear to differentially affect white matter maturation and behavioural outcomes, although recovery can occur following abstinence. PMID:23028622

Developing software to "track and catch" missed follow-up of abnormal test results in a complex sociotechnical environment.

PubMed

Smith, M; Murphy, D; Laxmisan, A; Sittig, D; Reis, B; Esquivel, A; Singh, H

2013-01-01

Abnormal test results do not always receive timely follow-up, even when providers are notified through electronic health record (EHR)-based alerts. High workload, alert fatigue, and other demands on attention disrupt a provider's prospective memory for tasks required to initiate follow-up. Thus, EHR-based tracking and reminding functionalities are needed to improve follow-up. The purpose of this study was to develop a decision-support software prototype enabling individual and system-wide tracking of abnormal test result alerts lacking follow-up, and to conduct formative evaluations, including usability testing. We developed a working prototype software system, the Alert Watch And Response Engine (AWARE), to detect abnormal test result alerts lacking documented follow-up, and to present context-specific reminders to providers. Development and testing took place within the VA's EHR and focused on four cancer-related abnormal test results. Design concepts emphasized mitigating the effects of high workload and alert fatigue while being minimally intrusive. We conducted a multifaceted formative evaluation of the software, addressing fit within the larger socio-technical system. Evaluations included usability testing with the prototype and interview questions about organizational and workflow factors. Participants included 23 physicians, 9 clinical information technology specialists, and 8 quality/safety managers. Evaluation results indicated that our software prototype fit within the technical environment and clinical workflow, and physicians were able to use it successfully. Quality/safety managers reported that the tool would be useful in future quality assurance activities to detect patients who lack documented follow-up. Additionally, we successfully installed the software on the local facility's "test" EHR system, thus demonstrating technical compatibility. To address the factors involved in missed test results, we developed a software prototype to account for technical, usability, organizational, and workflow needs. Our evaluation has shown the feasibility of the prototype as a means of facilitating better follow-up for cancer-related abnormal test results.

Etiology and Pathogenesis of Idiopathic Achalasia.

PubMed

Pressman, Amanda; Behar, Jose

2017-03-01

This review examines the etiology and pathogenesis of idiopathic achalasia. This disease is clinically characterized by dysphagia of solids and liquids due to the presence of simultaneous or absent esophageal contractions and impaired or absent relaxation of the lower esophageal sphincter. It includes a review of (a) etiology and pathogenesis of this inflammatory process that damage the ganglion cells of the Auerbach plexus that is limited to the esophagus; (b) genetic abnormalities and polymorphisms associated with this disease that may help explain its heterogeneity expressed by the different motility abnormalities of its phenotypes as well as differences in its clinical progression. These different genetic abnormalities may be responsible for the slow progression of types I or II phenotypes; (c) indirect evidence of viruses present in these patients that may initiate its development; (d) the abnormalities of the muscle layer that may be responsible for the dilation of the body of the esophagus that ultimately causes the sigmoid-like esophagus in the very last phase of this disease. This progression to the end-stage phase tends to occur in about 5% of patients. And, (e) the chronic inflammatory abnormalities in the squamous mucosa that may be the cause of the dysplastic and neoplastic changes that may lead to squamous cell carcinoma whose incidence in this disease is increased. These mucosal abnormalities are usually present in patients with markedly dilated body of the esophagus and severe food stasis.

[Gestational diabetes mellitus: data from outpatient department for women for years 1994-1998].

PubMed

Kanadys, W M; Oleszczuk, J

1999-10-01

This study was undertaken to determine the incidence of gestational diabetes mellitus. This study involved analysis of data collected prospectively from a cohort of women who received prenatal care from Outpatient Department for Women, from 1994 to 1998. The population consisted of 1017 pregnant women. It is a group of patients living mainly in geographical area, including Czechów district in Lublin. Therefore, it represents quantitative relations characteristics in natural conditions of the place of residence of a larger group of municipality population. Glucose challenge test (GCT) according to indications of Experts Team of Polish Diabetologic Society in early diagnostics of gestational diabetes melitus--a 50-g loading dose of glucose and 1-h test was considered abnormal if value was 140 mg/dl (7.8 mmol/L). Patients with abnormal GCT underwent an oral glucose tolerance test (GTT) according to criteria the World Health Organization, e.g., venous plasma glucose 2 h after 75 g oral glucose load > 140 mg/dl (7.8 mmol/L). From patients screened for GDM between 24 and 28 wk gestation, 59 (5.8%) showed an abnormal GCT and from these 18 (1.8%) had an abnormal GTT. The testing sequence was repeated in 32 wk gestation among patients with normal GTT after an abnormal GCT and 1 had abnormal GTT. Incidence of gestational diabetes mellitus is shown to be 1.9%.

Metabolic abnormalities in adult and geriatric major depression with and without comorbid dementia.

PubMed

Blank, Karen; Szarek, Bonnie L; Goethe, John W

2010-06-01

Metabolic abnormalities and metabolic syndrome (MetS) increasingly have been linked to depression. The authors studied examined inpatients 35 years and older with major depressive disorder (MDD) to determine the prevalence of component metabolic abnormalities and the full MetS with age, treatment, and comorbid dementia. Data analysis involved retrospective cross-sectional review from a nonprofit psychiatry inpatient service of all discharges 35 years and older with a diagnosis of MDD during a 3 year period (April 1, 2003 to March 31, 2006) (N=1718). Metabolic measures included waist circumference, lipid measurements, glucose, and hypertension diagnosis. Abnormal metabolic measures and MetS were highly prevalent in both young and old patients with MDD: one or more component was present in 87.6% of older (65-99 years old) and 79.9% of younger patients. Full MetS was present in 31.5% of older and 28.9% of younger patients (not significant, P=0.85). Metabolic abnormalities were not associated with atypical antipsychotics after controlling other variables. One-quarter (n=79, 24.9%) of older inpatients had a dementia co-diagnosis. Older patients with MDD and dementia had greater risk of elevated glucose while younger patients were more often hypertensive. Longitudinal studies are needed to determine the relationships of MDD with or without dementia with these highly prevalent abnormal metabolic measures and MetS. Copyright 2010 Wiley Periodicals, Inc.

In Amnio MRI of Mouse Embryos

PubMed Central

Roberts, Thomas A.; Norris, Francesca C.; Carnaghan, Helen; Savery, Dawn; Wells, Jack A.; Siow, Bernard; Scambler, Peter J.; Pierro, Agostino; De Coppi, Paolo; Eaton, Simon; Lythgoe, Mark F.

2014-01-01

Mouse embryo imaging is conventionally carried out on ex vivo embryos excised from the amniotic sac, omitting vital structures and abnormalities external to the body. Here, we present an in amnio MR imaging methodology in which the mouse embryo is retained in the amniotic sac and demonstrate how important embryonic structures can be visualised in 3D with high spatial resolution (100 µm/px). To illustrate the utility of in amnio imaging, we subsequently apply the technique to examine abnormal mouse embryos with abdominal wall defects. Mouse embryos at E17.5 were imaged and compared, including three normal phenotype embryos, an abnormal embryo with a clear exomphalos defect, and one with a suspected gastroschisis phenotype. Embryos were excised from the mother ensuring the amnion remained intact and stereo microscopy was performed. Embryos were next embedded in agarose for 3D, high resolution MRI on a 9.4T scanner. Identification of the abnormal embryo phenotypes was not possible using stereo microscopy or conventional ex vivo MRI. Using in amnio MRI, we determined that the abnormal embryos had an exomphalos phenotype with varying severities. In amnio MRI is ideally suited to investigate the complex relationship between embryo and amnion, together with screening for other abnormalities located outside of the mouse embryo, providing a valuable complement to histology and existing imaging methods available to the phenotyping community. PMID:25330230

Fluid-attenuated inversion recovery: correlations of hippocampal cell densities with signal abnormalities.

PubMed

Diehl, B; Najm, I; Mohamed, A; Wyllie, E; Babb, T; Ying, Z; Hilbig, A; Bingaman, W; Lüders, H O; Ruggieri, P

2001-09-25

Hippocampal sclerosis (HS) is characterized by hippocampal atrophy and increased signal on T2-weighted images and on fluid-attenuated inversion recovery (FLAIR) images. To quantitate cell loss and compare it with signal abnormalities on FLAIR images. Thirty-one patients with temporal lobe resection, pathologically proven HS, and Engel class I and II outcome were included: 20 with HS only and 11 with HS associated with pathologically proven cortical dysplasia (dual pathology). The signal intensity on FLAIR was rated as present or absent in the hippocampus and correlated with the neuronal losses in the hippocampus. FLAIR signal increases were present in 77% (24/31) of all patients studied. In patients with isolated HS, 90% (18/20) had ipsilateral signal increases, but in patients with dual pathology, only 55% (6/11; p < 0.02) showed FLAIR signal increase. Hippocampal cell losses were significantly higher in the isolated HS group. The average cell loss in patients with FLAIR signal abnormalities was 64.8 +/- 8.0% as compared with only 32.7 +/- 5.1% in patients with no FLAIR signal abnormalities. There was a significant positive correlation between the presence of signal abnormality and average hippocampal cell loss in both pathologic groups. Ipsilateral FLAIR signal abnormalities occur in the majority of patients with isolated HS but are less frequent in those with dual pathology. The presence of increased FLAIR signal is correlated with higher hippocampal cell loss.

A Fourteen-Year Experience with Vascular Anomalies Encountered during Transaxillary Rib Resection for Thoracic Outlet Syndrome.

PubMed

Yi, Jeniann A; Johnston, Robert J; Nehler, Mark R; Gibula, Douglas R; Alix, Kristen; Glebova, Natalia O; Brantigan, Charles O

2017-04-01

Transaxillary approach to first rib resection and scalenectomy (TAFRRS) is a well-established technique for treatment of thoracic outlet syndrome (TOS). Although anatomic features encountered during TAFRRS are in general constant, vascular anomalies may be encountered but have not been described to date. Herein we describe vascular abnormalities encountered during TAFRRS. We performed a retrospective review of a prospective practice database of 224 operations for TOS performed in 172 patients from March 2000 to March 2014. We excluded 10 patients with missing operative reports, 3 reoperations on the same patient, and 8 non-transaxillary resections. We recorded vascular anomalies identified in operative reports and reviewed computed tomography imaging to delineate the nature of these abnormalities. The overall incidence of vascular anomalies was 11% (22 of 203 TAFRRS). Most patients with anomalies had venous TOS (vTOS) (9 patients, 41%), followed by 7 (32%) with neurogenic TOS (nTOS). The remainder of the patients had arterial TOS (aTOS) (6 patients, 27%). Seven patients (32%) had an abnormal subclavian artery (SCA) with 5 (23%) having an abnormal arterial course in the anterior scalene muscle (ASM); 6 patients (27%) had an abnormal internal mammary artery (IMA) originating from distal SCA; 4 (18%) had abnormalities in the supreme thoracic artery (bifurcation or duplication); 2 (9%) had an abnormal branch from the SCA with anomalous location in the operative field; and 3 (14%) had an abnormal large venous branch penetrating the ASM. In the 19 patients with arterial anomalies, 8 (42%) were recognized as arterial branches penetrating the ASM, and 11 (58%) were noticed as they had anomalous arterial locations within the operative field. Most arterial anomalies were seen in vTOS (9, 45%), followed by nTOS (7, 35%). No intraoperative vascular complications occurred. Perioperative complications included 1 occurrence of postoperative transfusion for bleeding following axillary drain discontinuation and 2 Horner's syndromes. One aberrant IMA was electively ligated to allow complete thoracic outlet decompression. Arterial anomalies during TAFRRS are encountered in 11% of operations, and may present with vessel locations in unusual areas within the operative field, or as abnormal vessels penetrating the ASM, thus making scalenectomy precarious. Careful attention must be paid to possible abnormal locations of vessels in the thoracic outlet to avoid bleeding complications. Copyright © 2016 Elsevier Inc. All rights reserved.

Investigation of frog abnormalities on national wildlife refuges in the Northeast U.S.

USGS Publications Warehouse

Eaton-Poole, L.; Pinkney, A.E.; Green, D.E.; Sutherland, D.R.; Babbitt, K.J.; ,

2003-01-01

To address concerns about frog abnormalities, the U.S. Fish and Wildlife Service examined over 3,643 frogs and toads on National Wildlife Refuges (NWRs) in the Northeast U.S. The objectives were to: 1) determine if certain refuges had sites where abnormalities were frequently observed; 2) evaluate if the prevalence of abnormalities at a site was consistent within a season and among years; and 3) investigate possible causes. Sampling was conducted from 1999 through 2001. A complete sample from a site consisted of ???50 metamorphs of one species. The prevalence of abnormalities ranged from 0 to 15% and fluctuated within season and among years. The most common external abnormalities were truncated limbs, and missing limbs, feet, and digits. Frogs with duplication of limb segments were rare (6). Based on radiographical examinations of 89 abnormal frogs, 55 had abnormalities due to trauma, 22 due to malformations, and 12 could not be classified. Metacercariae of the trematode Ribeiroia were detected in substantial numbers in two species from Iroquois NWR, with one specimen having supernumerary hindlimbs. We recommend continued sampling and integrated, causal evaluations on NWRs where the prevalence of abnormalities exceeds 5% or where the types of abnormalities warrant further study.

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

PubMed Central

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

2014-01-01

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

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

PubMed Central

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

2006-01-01

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

Stress Cardiac MRI in Women With Myocardial Infarction and Nonobstructive Coronary Artery Disease.

PubMed

Mauricio, Rina; Srichai, Monvadi B; Axel, Leon; Hochman, Judith S; Reynolds, Harmony R

2016-10-01

In a prospective study, cardiac MRI (CMR) and intravascular ultrasound were performed in women with myocardial infarction (MI) and nonobstructive coronary artery disease (MINOCA). Forty participants underwent adenosine-stress CMR (sCMR). Abnormal perfusion may co-localize with ischemic late gadolinium enhancement (LGE) and T2-weighted signal hyperintensity (T2+), suggesting microvascular dysfunction contributed to MI. Qualitative perfusion analysis was performed by 2 independent readers. Abnormal myocardial perfusion reserve index (MPRI) was defined as global average ≤1.84. Abnormal rest perfusion was present in 10 patients (25%) and stress perfusion abnormalities in 25 (63%). Abnormal stress perfusion was not associated with LGE but tended to occur with T2+. Among patients with abnormal perfusion and LGE, the LGE pattern was ischemic in half. The locations of abnormal perfusion and LGE matched in 75%, T2+ in 100%. Abnormal stress perfusion was not associated with plaque disruption and matched in location in 63%. MPRI was abnormal in 10 patients (25%) and was not associated with LGE, T2+ or plaque disruption. Abnormal perfusion on sCMR is common among women with MINOCA. Abnormal perfusion usually co-localized with LGE and/or T2+ when present. Variability in LGE pattern leads to uncertainty about whether the finding of abnormal perfusion was cause or consequence of the tissue state leading to LGE. Low MPRI, possibly indicating diffuse microvascular disease, was observed with and without LGE and T2+. Multiple mechanisms may lead to abnormal perfusion on sCMR. Microvascular dysfunction may contribute to the pathogenesis of and coexist with other causes of MINOCA. © 2016 Wiley Periodicals, Inc.

Chromosomal abnormalities in a psychiatric population

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

Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.

Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awarenessmore » to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.« less

[Thrombotic microangiopathy].

PubMed

Beutel, G; Kielstein, J T; Ganser, A

2013-09-01

Thrombotic microangiopathy should be suspected every time the combination of microangiopathic hemolytic anemia without a coexisting cause, thrombocytopenia as well as renal and/or neurologic abnormalities occurs. The general term thrombotic microangiopathy includes different subtypes of the disease leading to abnormalities in multiple organ systems by endothelial injury and formation of platelet-rich thrombi in small vessels. The main types include thrombotic thrombocytopenic purpura in case of dominant neurologic abnormalities and the hemolytic uremic syndrome in case of acute kidney injury, respectively. Although these syndromes differ in their etiologies, clinical features, response to treatment, and prognosis, an early initiation of a direct therapeutic intervention frequently determines the clinical course of the patient. Irrespectively of the underlying etiology, plasma exchange is an essential component of acute therapeutic intervention while ongoing diagnostics are used to identify the definite treatment.

Pituitary and ovarian abnormalities demonstrated by CT and ultrasound in children with features of the McCune-Albright syndrome

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

Rieth, K.G.; Comite, F.; Shawker, T.H.

1984-11-01

In a random series of 97 children referred to the National Institutes of Health with a presumptive diagnosis of precocious puberty, eight girls were found to have features of the McCune-Albright syndrome, including fibrous dysplasia of bone and/or skin lesions resembling cafe au lait spots. Radiographic evaluation of these patients included computed tomography of the head and pelvic ultrasound. The pituitary glands were suspicious for abnormality in five of the eight girls. Seven girls underwent pelvic ultrasound, and in all of them the ovaries were considered to be abnormal for their chronological age; in addition, two had functional ovarian cysts.more » The role of diagnostic radiological studies in the diagnosis of this syndrome is discussed.« less

Developmental disorders of the dentition: an update

PubMed Central

Klein, Ophir D.; Oberoi, Snehlata; Huysseune, Ann; Hovorakova, Maria; Peterka, Miroslav; Peterkova, Renata

2013-01-01

Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of abnormal tooth development and the implications of these abnormalities for clinical care. As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome, ectodermal dysplasias, oral-facial-digital syndrome type I, Rieger syndrome, holoprosencephaly, and tooth anomalies associated with cleft lip and palate. Next, we review delayed formation and eruption of teeth, as well as abnormalities in tooth size, shape and form. Finally, isolated and syndromic causes of supernumerary teeth are considered, including cleidocranial dysplasia and Gardner syndrome. PMID:24124058

Abnormal Uterine Bleeding FAQ

MedlinePlus

... Abnormal Uterine Bleeding • What is a normal menstrual cycle? • When is bleeding abnormal? • At what ages is ... abnormal bleeding? •Glossary What is a normal menstrual cycle? The normal length of the menstrual cycle is ...

Genetics Home Reference: X-linked lissencephaly with abnormal genitalia

MedlinePlus

... Health Conditions X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia Printable PDF Open ... Javascript to view the expand/collapse boxes. Description X-linked lissencephaly with abnormal genitalia (XLAG) is a ...

Oseltamivir use and severe abnormal behavior in Japanese children and adolescents with influenza: Is a self-controlled case series study applicable?

PubMed

Fukushima, Wakaba; Ozasa, Kotaro; Okumura, Akihisa; Mori, Masaaki; Hosoya, Mitsuaki; Nakano, Takashi; Tanabe, Takuya; Yamaguchi, Naoto; Suzuki, Hiroshi; Mori, Mitsuru; Hatayama, Hideaki; Ochiai, Hirotaka; Kondo, Kyoko; Ito, Kazuya; Ohfuji, Satoko; Nakamura, Yosikazu; Hirota, Yoshio

2017-08-24

Since the 1990s, self-controlled designs including self-controlled case series (SCCS) studies have been occasionally used in post-marketing evaluation of drug or vaccine safety. An SCCS study was tentatively applied to evaluate the relationship between oseltamivir use and abnormal behavior Type A (serious abnormal behavior potentially leading to an accident or harm to another person) in influenza patients. From the original prospective cohort study with approximately 10,000 Japanese children and adolescents with influenza (aged <18years), 28 subjects (mean age: 7.3years) who developed abnormal behavior Type A after the first visit to the collaborating hospitals/clinics were analyzed. We hypothesized four combination patterns of the effect period (i.e., the period that effect of oseltamivir on occurrence of abnormal behavior Type A is likely) and the control period. Mantel-Haenszel rate ratio (M-H RR) and its 95% confidence interval (CI) were calculated as the relative risk estimate. Among 28 subjects in the SCCS study, 24 subjects (86%) were administered oseltamivir and 4 subjects (14%) were not. Abnormal behavior Type A was more likely to occur in the effect period than the control period in every pattern (M-H RR: 1.90-29.1). We observed the highest estimate when the effect period was set between the initial intake of oseltamivir and T max (M-H RR: 29.1, 95% CI: 4.21-201). Abnormal behavior Type A was more likely to develop up to approximately 30 times during the period between the initial intake of oseltamivir and T max . However, this period overlapped with the early period of influenza where high fever was observed. Since useful approaches to control the influence of the natural disease course of influenza were not available in this study, we could not deny the possibility that abnormal behavior was induced by influenza itself. The SCCS study was not an optimal method to evaluate the relationship between oseltamivir use and abnormal behavior. Copyright © 2017 Elsevier Ltd. All rights reserved.

Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide?

PubMed

Leung, W C; Lau, E T; Lau, W L; Tang, Rebecca; Wong, Shell Fean; Lau, T K; Tse, K T; Wong, S F; To, W K; Ng, Lucy K L; Lao, T T; Tang, Mary H Y

2008-02-01

The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such chromosomal abnormalities and whether parents would choose to terminate affected pregnancies. Retrospective study on a cytogenetic database. Eight public hospitals in Hong Kong. The karyotype results of 19 517 amniotic fluid cultures performed for advanced maternal age (>or=35 years) from 1997 to 2002 were classified according to whether they were detectable by rapid aneuploidy testing. The outcomes of pregnancies with abnormal karyotypes were reviewed from patient records. In all, 333 (1.7%) amniotic fluid cultures yielded abnormal karyotypes; 175 (52.6%) of these were detected by rapid aneuploidy testing, and included trisomy 21 (n=94, 28.2%), trisomy 18 or 13 (n=21, 6.3%), and sex chromosome abnormalities (n=60, 18.0%). The other 158 (47.4%) chromosomal abnormalities were not detectable by rapid aneuploidy testing, of which 63 (18.9%) were regarded to be of potential clinical significance and 95 (28.5%) of no clinical significance. Pregnancy outcomes in 327/333 (98.2%) of these patients were retrieved. In total, 143 (42.9%) of these pregnancies were terminated: 93/94 (98.9%) for trisomy 21, 20/21 (95.2%) for trisomy 18 or 13, 19/60 (31.7%) for sex chromosome abnormalities, and 11/63 (17.5%) for other chromosomal abnormalities with potential clinical significance. There were no terminations in the 95 pregnancies in which karyotyping results were regarded to be of no clinical significance. 'Knowing less' by the rapid aneuploidy stand-alone testing could miss about half of all chromosomal abnormalities detectable by amniocentesis performed for advanced maternal age. Findings from two fifths of the latter were of potential clinical significance, and the parents chose to terminate one out of six of the corresponding pregnancies. If both techniques are available, parents could have enhanced autonomy to choose.

An implication of the short physical performance battery (SPPB) as a predictor of abnormal pulmonary function in aging people.

PubMed

Choi, Ho-Chun; Son, Ki Young; Cho, Belong; Park, Sang Min; Cho, Sung-Il

2012-01-01

If association between the decline in physical performance and the decline in pulmonary function is confirmed, the SPPB could be used as a predictor for pulmonary functional declines in aging people because of its convenient use. This study aimed to elucidate the association of the SPPB with the pulmonary function test (PFT) to determine the usefulness of the SPPB as a predictor of PFT decline. The SPPB and PFT were performed on random sample nested in the Korean Longitudinal Study of Aging (KLoSA) panel, a national representative sample of aging people in Korea. Comparisons of adjusted means of forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), forced expiratory ratio (FER) defined as FEV1/FVC between normal and abnormal SPPB groups were performed using the t-test. The association between PFT and SPPB abnormality was examined using multiple logistic regression analysis. Additionally, the associations of gait speed and chair stand time with FEV1 and FVC were examined using multiple linear regression analysis. Five hundred and eighteen subjects were included in analysis. Approximately 43% (222/518) of the subjects were male and 65% (338/518) were 60 years or older. Adjusted means of FEV1 and FER were significantly or marginally lower when SPPB score was abnormal in both overall and non-smoking men (p=0.009 and 0.053 for overall, p<0.001 and p<0.080 for non-smokers), but FVC was lower only in non-smoking men (p=0.024). Abnormal SPPB score was significantly associated with abnormal PFT regardless of sex. (adjusted odds ratio=OR=3.76, 95%CI=1.96-7.22 for men, adjusted OR=2.11, 95%CI 1.28-3.47 for women). Gait speed was significantly or marginally associated with FEV1 and FVC in participants 60 years or older, regardless of sex. We conclude that abnormal SPPB score was associated with abnormal pulmonary function. Thus, the SPPB has the potential to be used as an early predictor of abnormal pulmonary function in clinical settings and epidemiological study. Copyright © 2011. Published by Elsevier Ireland Ltd.

Fluorescence immunophenotyping and interphase cytogenetics (FICTION) detects BCL6 abnormalities, including gene amplification, in most cases of nodular lymphocyte-predominant Hodgkin lymphoma.

PubMed

Bakhirev, Alexei G; Vasef, Mohammad A; Zhang, Qian-Yun; Reichard, Kaaren K; Czuchlewski, David R

2014-04-01

BCL6 translocations are a frequent finding in B-cell lymphomas of diverse subtypes, including some cases of nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). However, reliable analysis of BCL6 rearrangements using fluorescence in situ hybridization is difficult in NLPHL because of the relative paucity of neoplastic cells. Combined immunofluorescence microscopy and fluorescence in situ hybridization, or fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION), permits targeted analysis of neoplastic cells. To better define the spectrum of BCL6 abnormalities in NLPHL using FICTION analysis. We performed an optimized FICTION analysis of 24 lymph nodes, including 11 NLPHL, 5 follicular hyperplasia with prominent progressive transformation of germinal centers, and 8 follicular hyperplasia without progressive transformation of germinal centers. BCL6 rearrangement was identified in 5 of 11 cases of NLPHL (46%). In addition, BCL6 gene amplification, with large clusters of BCL6 signals in the absence of chromosome 3 aneuploidy, was detected in 3 of 11 cases of NLPHL (27%). One NLPHL showed extra copies of BCL6 present in conjunction with multiple copies of chromosome 3. Altogether, we detected BCL6 abnormalities in 9 of 11 cases of NLPHL (82%). None of the progressive transformation of germinal centers or follicular hyperplasia cases showed BCL6 abnormalities by FICTION. To our knowledge, this is the first report of BCL6 gene amplification in NLPHL. Our optimized protocol for FICTION permits detection of cytogenetic abnormalities in most NLPHL cases and may represent a useful ancillary diagnostic technique.

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

PubMed

Lee, Cha Gon; Park, Sang-Jin; Yun, Jun-No; Ko, Jung Min; Kim, Hyon-Ju; Yim, Shin-Young; Sohn, Young Bae

2013-11-01

This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. A total of 190 patients were identified. Mean age was 5.1±1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.

Evaluation of esophageal motility utilizing the functional lumen imaging probe (FLIP)

PubMed Central

Carlson, Dustin A.; Kahrilas, Peter J.; Lin, Zhiyue; Hirano, Ikuo; Gonsalves, Nirmala; Listernick, Zoe; Ritter, Katherine; Tye, Michael; Ponds, Fraukje A.; Wong, Ian; Pandolfino, John E.

2016-01-01

Background Esophagogastric junction (EGJ) distensibility and distension-mediated peristalsis can be assessed with the functional lumen imaging probe (FLIP) during a sedated upper endoscopy. We aimed to describe esophageal motility assessment using FLIP topography in patients presenting with dysphagia. Methods 145 patients (ages 18 – 85, 54% female) with dysphagia that completed upper endoscopy with a 16-cm FLIP assembly and high-resolution manometry (HRM) were included. HRM was analyzed according to the Chicago Classification of esophageal motility disorders; major esophageal motility disorders were considered ‘abnormal’. FLIP studies were analyzed using a customized program to calculate the EGJ-distensibility index (DI) and generate FLIP topography plots to identify esophageal contractility patterns. FLIP topography was considered ‘abnormal’ if EGJ-DI was < 2.8 mm2/mmHg or contractility pattern demonstrated absent contractility or repetitive, retrograde contractions. Results HRM was abnormal in 111 (77%) patients: 70 achalasia (19 type I, 39 type II, 12 type III), 38 EGJ outflow obstruction, and three jackhammer esophagus. FLIP topography was abnormal in 106 (95%) of these patients, including all 70 achalasia patients. HRM was ‘normal’ in 34 (23%) patients: five ineffective esophageal motility and 29 normal motility. 17 (50%) had abnormal FLIP topography including 13 (37%) with abnormal EGJ-DI. Conclusions FLIP topography provides a well-tolerated method for esophageal motility assessment (especially to identify achalasia) at the time of upper endoscopy. FLIP topography findings that are discordant with HRM may indicate otherwise undetected abnormalities of esophageal function, thus FLIP provides an alternative and complementary method to HRM for evaluation of non-obstructive dysphagia. PMID:27725650

Ophthalmologic Findings in Patients with Neuro-metabolic Disorders.

PubMed

Jafari, Narjes; Golnik, Karl; Shahriari, Mansoor; Karimzadeh, Parvaneh; Jabbehdari, Sayena

2018-01-01

We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. A total of 213 patients with 34 different neuro-metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser-Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry-red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination. Ophthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.

Joint imaging in polymyalgia rheumatica

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

O'Duffy, J.D.; Wahner, H.W.; Hunder, G.G.

1976-08-01

Technetium pertechnetate joint scintigrams were abnormal in 24 of 25 patients with polymyalgia rheumatica, in all 16 with rheumatoid arthritis, in 4 of 13 with nonarticular rheumatism, but in none of 26 control patients. Abnormal uptake in polymyalgia patients was commonest in shoulders and was less likely to be symmetric than in patients with rheumatoid arthritis, in whom distal joint abnormalities predominated. The pattern of abnormal uptake in polymyalgia rheumatica was not different in those with biopsy-proved giant cell arteritis. Correlation between symptoms and abnormal scintigrams was 72%, and abnormal uptake was present in 81% of joints of patients havingmore » physical abnormalities. Biopsy showed lymphocytic synovitis in the knee of one patient. After treatment the number of abnormal joints declined. These findings suggest that synovitis is common in polymyalgia rheumatica, and that it may account for some or most of the symptoms in this condition.« less

What proportion of congenital abnormalities can be prevented?

PubMed Central

Czeizel, A E; Intôdy, Z; Modell, B

1993-01-01

OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention. Images p502-a p503-a PMID:8448464

Neonatal brain structure on MRI and diffusion tensor imaging, sex, and neurodevelopment in very-low-birthweight preterm children.

PubMed

Rose, Jessica; Butler, Erin E; Lamont, Lauren E; Barnes, Patrick D; Atlas, Scott W; Stevenson, David K

2009-07-01

The neurological basis of an increased incidence of cerebral palsy (CP) in preterm males is unknown. This study examined neonatal brain structure on magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) at term-equivalent age, sex, and neurodevelopment at 1 year 6 months on the basis of the Amiel-Tison neurological examination, Gross Motor Function Classification System, and Bayley Scales of Infant Development in 78 very-low-birthweight preterm children (41 males, 37 females; mean gestational age 27.6 wks, SD 2.5; mean birthweight 1021 g, SD 339). Brain abnormalities on MRI and DTI were not different between males and females except in the splenium of the corpus callosum, where males had lower DTI fractional anisotropy (p=0.025) and a higher apparent diffusion coefficient (p=0.013), indicating delayed splenium development. In the 26 infants who were at higher risk on the basis of DTI, males had more abnormalities on MRI (p=0.034) and had lower fractional anisotropy and a higher apparent diffusion coefficient in the splenium (p=0.049; p=0.025) and right posterior limb of the internal capsule (PLIC; p=0.003; p=0.033). Abnormal neurodevelopment was more common in males (n=9) than in females (n=2; p=0.036). Children with abnormal neurodevelopment had more abnormalities on MRI (p=0.014) and reduced splenium and right PLIC fractional anisotropy (p=0.001; p=0.035). In children with abnormal neurodevelopment, right PLIC fractional anisotropy was lower than left (p=0.035), whereas in those with normal neurodevelopment right PLIC fractional anisotropy was higher than left (p=0.001). Right PLIC fractional anisotropy correlated to neurodevelopment (rho=0.371, p=0.002). Logistic regression predicted neurodevelopment with 94% accuracy; only right PLIC fractional anisotropy was a significant logistic coefficient. Results indicate that the higher incidence of abnormal neurodevelopment in preterm males relates to greater incidence and severity of brain abnormalities, including reduced PLIC and splenium development.

The amygdala and temporal lobe simple partial seizures: a prospective and quantitative MRI study.

PubMed

Van Paesschen, W; King, M D; Duncan, J S; Connelly, A

2001-07-01

To determine whether specific temporal lobe simple partial seizures (SPSs) are associated with an abnormal amygdala T2 (AT2) ipsilateral to the seizure focus in patients with intractable unilateral temporal lobe epilepsy (TLE). AT2 relaxation time mapping is a sensitive method for the detection of abnormal tissue in the amygdala in patients with refractory TLE. The relation between an abnormal AT2 in the epileptic temporal lobe and amygdala seizure onset has not been established. Fifty patients with intractable unilateral TLE and concordant data during presurgical evaluation were included. Patients with a foreign-tissue lesion on standard magnetic resonance imaging (MRI) were excluded. All had AT2 mapping. Fifteen types of SPSs were ascertained prospectively, systematically, and blinded to the results of AT2 mapping. The SPSs of patients with a normal AT2 (n = 25) were compared with those of patients with an abnormal AT2 ipsilateral to the seizure focus (n = 25). The group of patients with an abnormal AT2 reported a median of six types of SPSs (range 1-11), in comparison with a median of three types of SPSs (range, 0-7) for the group with a normal AT2 (p<0.01). Déjà vu, a warm sensation, an indescribable strange sensation, a cephalic sensation, and fear were associated with an abnormal AT2. The combination of déjà vu, a cephalic sensation, a warm sensation, a gustatory hallucination, and an indescribable strange sensation discriminated best between the 25 patients with a normal and the 25 patients with an abnormal AT2. A high number and the types of different SPSs provide clinical evidence for early involvement of the amygdala during seizures in patients with refractory unilateral TLE and an abnormal AT2 in the epileptic temporal lobe

Electrocardiographic abnormalities in Trypanosoma cruzi seropositive and seronegative former blood donors.

PubMed

Ribeiro, Antonio L; Sabino, Ester C; Marcolino, Milena S; Salemi, Vera M C; Ianni, Barbara M; Fernandes, Fábio; Nastari, Luciano; Antunes, André; Menezes, Márcia; Oliveira, Cláudia Di Lorenzo; Sachdev, Vandana; Carrick, Danielle M; Busch, Michael P; Murphy, Eduard L

2013-01-01

Blood donor screening leads to large numbers of new diagnoses of Trypanosoma cruzi infection, with most donors in the asymptomatic chronic indeterminate form. Information on electrocardiogram (ECG) findings in infected blood donors is lacking and may help in counseling and recognizing those with more severe disease. To assess the frequency of ECG abnormalities in T.cruzi seropositive relative to seronegative blood donors, and to recognize ECG abnormalities associated with left ventricular dysfunction. The study retrospectively enrolled 499 seropositive blood donors in São Paulo and Montes Claros, Brazil, and 483 seronegative control donors matched by site, gender, age, and year of blood donation. All subjects underwent a health clinical evaluation, ECG, and echocardiogram (Echo). ECG and Echo were reviewed blindly by centralized reading centers. Left ventricular (LV) dysfunction was defined as LV ejection fraction (EF)<0.50%. Right bundle branch block and left anterior fascicular block, isolated or in association, were more frequently found in seropositive cases (p<0.0001). Both QRS and QTc duration were associated with LVEF values (correlation coefficients -0.159,p<0.0003, and -0.142,p = 0.002) and showed a moderate accuracy in the detection of reduced LVEF (area under the ROC curve: 0.778 and 0.790, both p<0.0001). Several ECG abnormalities were more commonly found in seropositive donors with depressed LVEF, including rhythm disorders (frequent supraventricular ectopic beats, atrial fibrillation or flutter and pacemaker), intraventricular blocks (right bundle branch block and left anterior fascicular block) and ischemic abnormalities (possible old myocardial infarction and major and minor ST abnormalities). ECG was sensitive (92%) for recognition of seropositive donors with depressed LVEF and had a high negative predictive value (99%) for ruling out LV dysfunction. ECG abnormalities are more frequent in seropositive than in seronegative blood donors. Several ECG abnormalities may help the recognition of seropositive cases with reduced LVEF who warrant careful follow-up and treatment.

Long-term visual outcomes in extremely low-birth-weight children (an American Ophthalmological Society thesis).

PubMed

Spencer, Rand

2006-01-01

The goal is to analyze the long-term visual outcome of extremely low-birth-weight children. This is a retrospective analysis of eyes of extremely low-birth-weight children on whom vision testing was performed. Visual outcomes were studied by analyzing acuity outcomes at >/=36 months of adjusted age, correlating early acuity testing with final visual outcome and evaluating adverse risk factors for vision. Data from 278 eyes are included. Mean birth weight was 731g, and mean gestational age at birth was 26 weeks. 248 eyes had grating acuity outcomes measured at 73 +/- 36 months, and 183 eyes had recognition acuity testing at 76 +/- 39 months. 54% had below normal grating acuities, and 66% had below normal recognition acuities. 27% of grating outcomes and 17% of recognition outcomes were /=3 years of age. A slower-than-normal rate of early visual development was predictive of abnormal grating acuity (P < .0001) and abnormal recognition acuity (P < .0001) at >/=3 years of age. Eyes diagnosed with maximal retinopathy of prematurity in zone I had lower acuity outcomes (P = .0002) than did those with maximal retinopathy of prematurity in zone II/III. Eyes of children born at 28 weeks gestational age. Eyes of children with poorer general health after premature birth had a 5.3 times greater risk of abnormal recognition acuity. Long-term visual development in extremely low-birth-weight infants is problematic and associated with a high risk of subnormal acuity. Early acuity testing is useful in identifying children at greatest risk for long-term visual abnormalities. Gestational age at birth of

Measurement of ECG abnormalities and cardiovascular risk classification: a cohort study of primary care patients in the Netherlands

PubMed Central

Groot, Anne; Bots, Michiel L; Rutten, Frans H; den Ruijter, Hester M; Numans, Mattijs E; Vaartjes, Ilonca

2015-01-01

Background GPs need accurate tools for cardiovascular (CV) risk assessment. Abnormalities in resting electrocardiograms (ECGs) relate to increased CV risk. Aim To determine whether measurement of ECG abnormalities on top of established risk estimation (SCORE) improves CV risk classification in a primary care population. Design and setting A cohort study of patients enlisted with academic general practices in the Netherlands (the Utrecht Health Project [UHP]). Method Incident CV events were extracted from the GP records. MEANS algorithm was used to assess ECG abnormalities. Cox proportional hazards modelling was applied to relate ECG abnormalities to CV events. For a prediction model only with SCORE variables, and a model with SCORE+ECG abnormalities, the discriminative value (area under the receiver operator curve [AUC]) and the net reclassification improvement (NRI) were estimated. Results A total of 2370 participants aged 38–74 years were included, all eligible for CV risk assessment. During a mean follow-up of 7.8 years, 172 CV events occurred. In 19% of the participants at least one ECG abnormality was found (Lausanne criteria). Presence of atrial fibrillation/flutter (AF) and myocardial infarction (MI) were significantly related to CV events. The AUC of the SCORE risk factors was 0.75 (95% CI = 0.71 to 0.79). Addition of MI or AF resulted in an AUC of 0.76 (95% CI = 0.72 to 0.79) and 0.75 (95% CI = 0.72 to 0.79), respectively. The NRI with the addition of ECG abnormalities was small (MI 1.0%; 95% CI = −3.2% to 6.9%; AF 0.5%; 95% CI = −3.5% to 3.3%). Conclusion Performing a resting ECG in a primary care population does not seem to improve risk classification when SCORE information — age, sex, smoking, systolic blood pressure, and total cholesterol/HDL ratio — is already available. PMID:25548311

Measurement of ECG abnormalities and cardiovascular risk classification: a cohort study of primary care patients in the Netherlands.

PubMed

Groot, Anne; Bots, Michiel L; Rutten, Frans H; den Ruijter, Hester M; Numans, Mattijs E; Vaartjes, Ilonca

2015-01-01

GPs need accurate tools for cardiovascular (CV) risk assessment. Abnormalities in resting electrocardiograms (ECGs) relate to increased CV risk. To determine whether measurement of ECG abnormalities on top of established risk estimation (SCORE) improves CV risk classification in a primary care population. A cohort study of patients enlisted with academic general practices in the Netherlands (the Utrecht Health Project [UHP]). Incident CV events were extracted from the GP records. MEANS algorithm was used to assess ECG abnormalities. Cox proportional hazards modelling was applied to relate ECG abnormalities to CV events. For a prediction model only with SCORE variables, and a model with SCORE+ECG abnormalities, the discriminative value (area under the receiver operator curve [AUC]) and the net reclassification improvement (NRI) were estimated. A total of 2370 participants aged 38-74 years were included, all eligible for CV risk assessment. During a mean follow-up of 7.8 years, 172 CV events occurred. In 19% of the participants at least one ECG abnormality was found (Lausanne criteria). Presence of atrial fibrillation/flutter (AF) and myocardial infarction (MI) were significantly related to CV events. The AUC of the SCORE risk factors was 0.75 (95% CI = 0.71 to 0.79). Addition of MI or AF resulted in an AUC of 0.76 (95% CI = 0.72 to 0.79) and 0.75 (95% CI = 0.72 to 0.79), respectively. The NRI with the addition of ECG abnormalities was small (MI 1.0%; 95% CI = -3.2% to 6.9%; AF 0.5%; 95% CI = -3.5% to 3.3%). Performing a resting ECG in a primary care population does not seem to improve risk classification when SCORE information - age, sex, smoking, systolic blood pressure, and total cholesterol/HDL ratio - is already available. © British Journal of General Practice 2015.

Molecular Detection of HPV and Chlamydia trachomatis Infections in Brazilian Women with Abnormal Cervical Cytology

PubMed Central

de Abreu, André L. P.; Nogara, Paula R. B.; Souza, Raquel P.; da Silva, Mariana C.; Uchimura, Nelson S.; Zanko, Rodrigo L.; Ferreira, Érika C.; Tognim, Maria C. B.; Teixeira, Jorge J. V.; Gimenes, Fabrícia; Consolaro, Marcia E. L.

2012-01-01

The question of whether Chlamydia trachomatis (Ct) is a cofactor for human Papillomavirus (HPV) in cervical carcinogenesis is still controversial. We conducted a molecular detection study of both infections in 622 Brazilian women, including 252 women with different grades of abnormal cervical cytology and cervical cancer (CC; cases) and 370 women with normal cytology (controls). Although Ct infection did not seem related to CC carcinogenicity, women with abnormal cytology had a significant high rate of Ct infection. Therefore, it is important to adopt protocols for diagnosis and treatment of this bacterium in conjunction with screening for CC in this population. PMID:23128289

Imaging the Endometrium: A Pictorial Essay.

PubMed

Sadro, Claudia T

2016-08-01

Female gynaecologic conditions arising from the endometrium are common and depend on a woman's age, her menstrual history, and the use of medications such as hormone replacement and tamoxifen. Both benign and malignant conditions affect the endometrium. Benign conditions must be distinguished from malignant and premalignant conditions. The most commonly used imaging modality for evaluating the endometrium is pelvic ultrasound with transabdominal and transvaginal techniques. Additional imaging methods include hysterosonography and magnetic resonance imaging. This pictorial essay will review the normal and abnormal appearance of the endometrium and diagnostic algorithms to evaluate abnormal vaginal bleeding and abnormal endometrial thickness. Copyright © 2016 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.

Novel Therapeutic Options for the Treatment of Mineral Metabolism Abnormalities in End Stage Renal Disease.

PubMed

Kendrick, Jessica; Chonchol, Michel

2015-01-01

Abnormalities in mineral metabolism are a universal complication in dialysis patients and are associated with an increased risk of cardiovascular disease and mortality. Hyperphosphatemia, increased fibroblast growth factor 23 levels and secondary hyperparathyroidism are all strongly associated with adverse outcomes in end stage renal disease (ESRD) and most treatment strategies target these parameters. Over the past few years, new therapies have emerged for the treatment of abnormalities of mineral metabolism in ESRD and many are promising. This article will review these new therapeutic options including the potential advantages and disadvantages compared to existing therapies. © 2015 Wiley Periodicals, Inc.

Habitat quality affects the incidence of morphological abnormalities in the endangered salamander Ambystoma ordinarium

PubMed Central

2017-01-01

Identification of early warning signals previous to the occurrence of population decline or extinction is a major challenge for the conservation of animal species. Prevalence of morphological abnormalities in a population can be one of these signals. We registered morphological abnormalities in the salamander Ambystoma ordinarium. We also evaluated the relation between habitat quality and the prevalence of abnormalities in this species. We used scores from rapid bioassessment protocols (RBPs) to assess the habitat quality of streams inhabited by A. ordinarium. A preliminary survey indicated that of 29 streams where this species has been historically registered, 13 might have few or no A. ordinarium. The association between habitat quality and the incidence of morphological abnormalities was evaluated in these 16 streams. Of 502 sampled individuals, 224 (44.62%) had at least one body abnormality. Of the 224 individuals with body abnormalities, 84 (37.5%) presented more than one abnormality. Of a total of 5,522 evaluated morphological characters, 344 (6.74%) were abnormal. Partial loss of gills and missing digits were the most frequent abnormalities. Results of a binomial logistic regression indicated that the probability of a character of an individual to be abnormal was significantly associated with habitat quality; as the levels of the quality of the habitat increased, the prevalence of morphological abnormalities decreased. These results suggest that RBPs are a quick and useful method for assessing the habitat quality of streams inhabited by A. ordinarium. Given that RBPs provide rapid and cost-effective assessments of the ecological health of aquatic ecosystems, it will be important to test if the RBPs protocols can be used to rapidly assess habitat quality for other species of stream amphibians. The negative association between habitat quality and the prevalence of morpohological abnormalities that we found indicates that habitat condition plays an important role in the high number of abnormalities registered in A. ordinarium. Therefore, our results suggest that one of the several negative effects of habitat degradation on amphibians is an increase in the frequency of morphological abnormalities with marked consequences for the survival and general fitness of aquatic amphibians. PMID:28846723

Atrophic alopecia in the Hallermann-Strieff syndrome.

PubMed

Grattan, C E; Liddle, B J; Willshaw, H E

1989-05-01

We report a case of the Hallermann-Strieff syndrome with focal scalp atrophy and associated patchy hair loss. Cases of the Hallermann-Strieff syndrome (a branchial arch syndrome) often present with ocular abnormalities in infancy but they also show a number of other abnormalities including a characteristic facial appearance, proportionate dwarfism, cutaneous atrophy, hypotrichosis and dental anomalies.

Small Molecule Disrupts Abnormal Gene Fusion Associated with Leukemia | Center for Cancer Research

Cancer.gov

Rare chromosomal abnormalities, called chromosomal translocations, in which part of a chromosome breaks off and becomes attached to another chromosome, can result in the generation of chimeric proteins. These aberrant proteins have unpredictable, and sometimes harmful, functions, including uncontrolled cell growth that can lead to cancer. One type of translocation, in which a

Depression and anxiety diagnoses are not associated with delayed resolution of abnormal mammograms and pap tests among vulnerable women.

PubMed

Kronman, Andrea C; Freund, Karen M; Heeren, Tim; Beaver, Kristine A; Flynn, Mary; Battaglia, Tracy A

2012-04-01

Delays in care after abnormal cancer screening contribute to disparities in cancer outcomes. Women with psychiatric disorders are less likely to receive cancer screening and may also have delays in diagnostic resolution after an abnormal screening test. To determine if depression and anxiety are associated with delays in resolution after abnormal mammograms and Pap tests in a vulnerable population of urban women. We conducted retrospective chart reviews of electronic medical records to identify women who had a diagnosis of depression or anxiety in the year prior to the abnormal mammogram or Pap test. We used time-to-event analysis to analyze the outcome of time to resolution after abnormal cancer screening, and Cox proportional hazards regression modeling to control for confounding. Women receiving care in six Boston-area community health centers 2004-2005: 523 with abnormal mammograms, 474 with abnormal Pap tests. Of the women with abnormal mammogram and pap tests, 19% and 16%, respectively, had co-morbid depression. There was no difference in time to diagnostic resolution between depressed and not-depressed women for those with abnormal mammograms (aHR = 0.9, 95 CI 0.7,1.1) or Pap tests (aHR = 0.9, 95 CI 0.7,1.3). An active diagnosis of depression and/or anxiety in the year prior to an abnormal mammogram or Pap test was not associated with a prolonged time to diagnostic resolution. Our findings imply that documented mood disorders do not identify an additional barrier to resolution after abnormal cancer screening in a vulnerable population of women.

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

PubMed

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

2011-01-01

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

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

PubMed

Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

2016-02-01

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Individual and Partner Risk Factors Associated with Abnormal Cervical Cytology among Women in HIV-discordant Relationships

PubMed Central

Soh, Jason; Rositch, Anne F.; Koutsky, Laura; Guthrie, Brandon L.; Choi, Robert Y.; Bosire, Rose K.; Gatuguta, Ann; Smith, Jennifer S.; Kiarie, James; Lohman-Payne, Barbara; Farquhar, Carey

2014-01-01

Individual and sexual partner characteristics may increase risk of abnormal cervical cytology among women in HIV-discordant relationships. Papanicolaou smears were obtained in a prospective cohort of Kenyan HIV-discordant couples. Of 441 women, 283 (64%) were HIV-infected and 158 (36%) were HIV-uninfected with HIV-infected partners. Overall, 79 (18%) had low-grade and 25 (6%) high-grade cervical abnormalities. Lack of male circumcision, male HSV-2 seropositivity and lower couple socioeconomic status were associated with cervical abnormalities (p<0.05). HIV-uninfected women with HIV-infected male sex partners (CD4>350 cells/µL) had the lowest prevalence of high-grade cervical lesions. HIV-infected women (CD4>350 cells/µL) and HIV-uninfected women with HIV-infected partners (CD4≤350 cells/µL) were at similar intermediate risk (P>0.05), and HIV-infected women (CD4≤350 cells/µL) had significantly higher risk of high-grade cervical abnormalities (p=0.05). Women in HIV-discordant relationships have high rates of cervical lesions and this may be influenced by couple-level factors, including HIV status and CD4 count of the infected partner. PMID:24047885

Hidden chromosome 8 abnormalities detected by FISH in adult primary myelodysplastic syndromes.

PubMed

Panani, Anna D; Pappa, Vasiliki

2005-01-01

Acquired clonal chromosomal abnormalities are found in about 30-50% of primary myelodysplastic syndromes (MDS). These abnormalities are predominantly characterized by total/partial chromosomal losses or gains and rarely by balanced structural aberrations. Trisomy 8 represents the most common chromosomal gain. In the present study, the numerical aberration of chromosome 8 was evaluated by the fluorescence in situ hybridization (FISH) technique in MDS, and the results compared with those of conventional cytogenetics. Thirty adult patients with primary MDS, 17 with a normal karyotype and 13 with several chromosomal abnormalities except chromosome 8, were included in this study. On comparing the results of FISH and conventional cytogenetics, a superiority of FISH over the karyotype was detected in 3 cases. In one of them, further cytogenetic analysis confirmed the FISH results. Nevertheless, the FISH technique has limitations, detecting only abnormalities specific for the target FISH probe used In clinical practice, conventional cytogenetics continues to be the basic technique for MDS patient evaluation. However, a large number of metaphases, even those of poor quality, must be analyzed in each case. The FISH technique could be considered to be complementary to achieve a more accurate analysis.

[The clinicopathological analysis of 88 patients with abnormal liver function test of unknown etiology].

PubMed

Pang, Shu-zhen; Ou, Xiao-juan; Shi, Xiao-yan; Wang, Tai-ling; Duan, Wei-jia; Jia, Ji-dong

2011-01-01

To evaluate the clinical and histological features of patients with abnormal liver tests of unknown etiology, and then to investigate the diagnosis and differential diagnosis. Patients with abnormal liver function test hospitalized and had liver biopsies during 2008 - 2009 constituted this retrospective study cohort. After excluding those patients diagnosed with hepatotropic viral hepatitis, space occupying lesions of the liver, alcoholic liver disease and obstruction of bile duct caused by stone or malignancy and AMA/AMA-M(2) positive of primary biliary cirrhosis (PBC), the clinical and histological characteristics were evaluated. Out of the 180 patients who underwent liver biopsy, 88 patients were included in the present analysis. The final diagnosis involved 15 categories of diseases, with drug-induced liver injury (DILI) [34.09% (30/88)], autoimmune liver diseases [22.73% (20/88)], and nonalcoholic fatty liver disease (NAFLD) [12.50% (11/88)] being the most common causes, following by genetic and other rare diseases. DILI, autoimmune liver disease and NAFLD were the most common causes of abnormal liver tests in these non-viral liver diseases. Some rare diseases such as hereditary metabolic liver disease also represent a considerable proportion in patients with abnormal liver function test.

The effects of increased testicular temperature on testis-specific isoform of Na+/K+ -ATPase in sperm and its role in spermatogenesis and sperm function.

PubMed

Thundathil, J C; Rajamanickam, G D; Kastelic, J P; Newton, L D

2012-08-01

Impaired testicular thermoregulation is commonly implicated in abnormal spermatogenesis and impaired sperm function in animals and humans, with outcomes ranging from subclinical infertility to sterility. Bovine testes must be maintained 4-5 °C below body-core temperature for normal spermatogenesis. The effects of elevated testicular temperature have been extensively studied in cattle using a scrotal insulation model, which results in abnormal spermatogenesis and impaired sperm morphology and function. Using this model and proteomic approaches, we compared normal and abnormal sperm (from the same bulls) to elucidate the molecular basis of impaired function. We identified a cohort of sperm functional proteins differentially expressed between normal vs abnormal sperm, including a testis-specific isoform of Na(+) /K(+) -ATPase. In addition to its role as a sodium pump regulating sperm motility, Na(+) /K(+) -ATPase is also involved as a signalling molecule during sperm capacitation. In conclusion, because of its involvement in regulation of sperm function, this protein has potential as a fertility marker. Furthermore, comparing normal vs abnormal sperm (induced by scrotal insulation) is a useful model for identifying proteins regulating sperm function. © 2012 Blackwell Verlag GmbH.

Association of MTHFR polymorphisms and chromosomal abnormalities in leukemia.

PubMed

Sinthuwiwat, Thivaratana; Poowasanpetch, Phanasit; Wongngamrungroj, Angsana; Soonklang, Kamonwan; Promso, Somying; Auewarakul, Chirayu; Tocharoentanaphol, Chintana

2012-01-01

Genetic variation in MTHFR gene might explain the interindividual differences in the reduction of DNA repaired and the increase of chromosome breakage and damage. Nowadays, chromosomal rearrangement is recognized as a major cause of lymphoid malignancies. In addition, the association of MTHFR polymorphisms with aneuploidy was found in several studies, making the MTHFR gene as a good candidate for leukemia etiology. Therefore, in this study, we investigated the common sequence variation, 677C>T and 1298A>C in the MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. The distribution of the MTHFR polymorphisms frequency was compared in leukemic patients with structural chromosome abnormality and chromosome aneuploidy, as well as in those with no evidence of chromosome abnormalities. We observed a significant decrease in the distribution of T allele in 677C>T polymorphisms among patients with chromosomal abnormalities including both structural aberration and aneuploidy. The same significance result also found in patients with structural aberration when compare with the normal karyotype patients. Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia. However, further investigation on the correlation with the specific types of chromosomal aberrations is needed.

The mushroom ribosome-inactivating protein lyophyllin exerts deleterious effects on mouse embryonic development in vitro.

PubMed

Chan, W Y; Ng, T B; Lam, Joyce S Y; Wong, Jack H; Chu, K T; Ngai, P H K; Lam, S K; Wang, H X

2010-01-01

Earlier investigations disclose that some plant ribosome-inactivating proteins (RIPs) adversely affect mouse embryonic development. In the present study, a mushroom RIP, namely lyophyllin from Lyophyllum shimeji, was isolated, partially sequenced, and its translation inhibitory activity determined. Its teratogenicity was studied by using a technique entailing microinjection and postimplantation whole-embryo culture. It was found that embryonic abnormalities during the period of organogenesis from E8.5 to E9.5 were induced by lyophyllin at a concentration as low as 50 microg/ml, and when the lyophyllin concentration was raised, the number of abnormal embryos increased, the final somite number decreased, and the abnormalities increased in severity. The affected embryonic structures included the cranial neural tube, forelimb buds, branchial arches, and body axis, while optic and otic placodes were more resistant. Lyophyllin at a concentration higher than 500 microg/ml also induced forebrain blisters within the cranial mesenchyme. When the abnormal embryos were examined histologically, an increase of cell death was found to be associated with abnormal structures, indicating that cell death may be one of the underlying causes of teratogenicity of the mushroom RIP. This constitutes the first report on the teratogenicity of a mushroom RIP.

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

PubMed

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

2011-01-01

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

A review of MRI findings in schizophrenia

PubMed Central

Shenton, Martha E.; Dickey, Chandlee C.; Frumin, Melissa; McCarley, Robert W.

2009-01-01

After more than 100 years of research, the neuropathology of schizophrenia remains unknown and this is despite the fact that both Kraepelin (1919/1971: Kraepelin,E., 1919/1971. Dementia praecox. Churchill Livingston Inc., New York) and Bleuler (1911/1950: Bleuler, E., 1911/1950. Dementia praecox or the group of schizophrenias. International Universities Press, New York), who first described ‘dementia praecox’ and the ‘ schizophrenias’, were convinced that schizophrenia would ultimately be linked to an organic brain disorder. Alzheimer (1897: Alzheimer, A., 1897. Beitrage zur pathologischen anatomie der hirnrinde und zur anatomischen grundlage einiger psychosen. Monatsschrift fur Psychiarie und Neurologie. 2, 82–120) was the first to investigate the neuropathology of schizophrenia, though he went on to study more tractable brain diseases. The results of subsequent neuropathological studies were disappointing because of conflicting findings. Research interest thus waned and did not flourish again until 1976, following the pivotal computer assisted tomography (CT) finding of lateral ventricular enlargement in schizophrenia by Johnstone and colleagues. Since that time significant progress has been made in brain imaging, particularly with the advent of magnetic resonance imaging (MRI), beginning with the first MRI study of schizophrenia by Smith and coworkers in 1984 (Smith, R.C., Calderon, M., Ravichandran, G.K., et al. (1984). Nuclear magnetic resonance in schizophrenia: A preliminary study. Psychiatry Res. 12, 137–147). MR in vivo imaging of the brain now confirms brain abnormalities in schizophrenia. The 193 peer reviewed MRI studies reported in the current review span the period from 1988 to August, 2000. This 12 year period has witnessed a burgeoning of MRI studies and has led to more definitive findings of brain abnormalities in schizophrenia than any other time period in the history of schizophrenia research. Such progress in defining the neuropathology of schizophrenia is largely due to advances in in vivo MRI techniques. These advances have now led to the identification of a number of brain abnormalities in schizophrenia. Some of these abnormalities confirm earlier post-mortem findings, and most are small and subtle, rather than large, thus necessitating more advanced and accurate measurement tools. These findings include ventricular enlargement (80% of studies reviewed) and third ventricle enlargement (73% of studies reviewed). There is also preferential involvement of medial temporal lobe structures (74% of studies reviewed), which include the amygdala, hippocampus, and parahippocampal gyrus, and neocortical temporal lobe regions (superior temporal gyrus) (100% of studies reviewed). When gray and white matter of superior temporal gyrus was combined, 67% of studies reported abnormalities. There was also moderate evidence for frontal lobe abnormalities (59% of studies reviewed), particularly prefrontal gray matter and orbitofrontal regions. Similarly, there was moderate evidence for parietal lobe abnormalities (60% of studies reviewed), particularly of the inferior parietal lobule which includes both supramarginal and angular gyri. Additionally, there was strong to moderate evidence for subcortical abnormalities (i.e. cavum septi pellucidi—92% of studies reviewed, basal ganglia—68% of studies reviewed, corpus callosum—63% of studies reviewed, and thalamus—42% of studies reviewed), but more equivocal evidence for cerebellar abnormalities (31% of studies reviewed). The timing of such abnormalities has not yet been determined, although many are evident when a patient first becomes symptomatic. There is, however, also evidence that a subset of brain abnormalities may change over the course of the illness. The most parsimonious explanation is that some brain abnormalities are neurodevelopmental in origin but unfold later in development, thus setting the stage for the development of the symptoms of schizophrenia. Or there may be additional factors, such as stress or neurotoxicity, that occur during adolescence or early adulthood and are necessary for the development of schizophrenia, and may be associated with neurodegenerative changes. Importantly, as several different brain regions are involved in the neuropathology of schizophrenia, new models need to be developed and tested that explain neural circuitry abnormalities effecting brain regions not necessarily structurally proximal to each other but nonetheless functionally interrelated. Future studies will likely benefit from: (1) studying more homogeneous patient groups so that the relationship between MRI findings and clinical symptoms become more meaningful; (2) studying at risk populations such as family members of patients diagnosed with schizophrenia and subjects diagnosed with schizotypal personality disorder in order to define which abnormalities are specific to schizophrenia spectrum disorders, which are the result of epiphenomena such as medication effects and chronic institutionalization, and which are needed for the development of frank psychosis; (3) examining shape differences not detectable from measuring volume alone; (4) applying newer methods such as diffusion tensor imaging to investigate abnormalities in brain connectivity and white matter fiber tracts; and, (5) using methods that analyze brain function (fMRI) and structure simultaneously. PMID:11343862

A comparison of continuous video-EEG monitoring and 30-minute EEG in an ICU.

PubMed

Khan, Omar I; Azevedo, Christina J; Hartshorn, Alendia L; Montanye, Justin T; Gonzalez, Juan C; Natola, Mark A; Surgenor, Stephen D; Morse, Richard P; Nordgren, Richard E; Bujarski, Krzysztof A; Holmes, Gregory L; Jobst, Barbara C; Scott, Rod C; Thadani, Vijay M

2014-12-01

To determine whether there is added benefit in detecting electrographic abnormalities from 16-24 hours of continuous video-EEG in adult medical/surgical ICU patients, compared to a 30-minute EEG. This was a prospectively enroled non-randomized study of 130 consecutive ICU patients for whom EEG was requested. For 117 patients, a 30-minute EEG was requested for altered mental state and/or suspected seizures; 83 patients continued with continuous video-EEG for 16-24 hours and 34 patients had only the 30-minute EEG. For 13 patients with prior seizures, continuous video-EEG was requested and was carried out for 16-24 hours. We gathered EEG data prospectively, and reviewed the medical records retrospectively to assess the impact of continuous video-EEG. A total of 83 continuous video-EEG recordings were performed for 16-24 hours beyond 30 minutes of routine EEG. All were slow, and 34% showed epileptiform findings in the first 30 minutes, including 2% with seizures. Over 16-24 hours, 14% developed new or additional epileptiform abnormalities, including 6% with seizures. In 8%, treatment was changed based on continuous video-EEG. Among the 34 EEGs limited to 30 minutes, almost all were slow and 18% showed epileptiform activity, including 3% with seizures. Among the 13 patients with known seizures, continuous video-EEG was slow in all and 69% had epileptiform abnormalities in the first 30 minutes, including 31% with seizures. An additional 8% developed epileptiform abnormalities over 16-24 hours. In 46%, treatment was changed based on continuous video-EEG. This study indicates that if continuous video-EEG is not available, a 30-minute EEG in the ICU has a substantial diagnostic yield and will lead to the detection of the majority of epileptiform abnormalities. In a small percentage of patients, continuous video-EEG will lead to the detection of additional epileptiform abnormalities. In a sub-population, with a history of seizures prior to the initiation of EEG recording, the benefits of continuous video-EEG in monitoring seizure activity and influencing treatment may be greater.

Impact of technology on cytology outcome in cervical cancer screening of young and older women.

PubMed

Rask, J; Lynge, E; Franzmann, M; Hansen, B; Hjortebjerg, A; Rygaard, C; Schledermann, D; Wåhlin, A; Rebolj, M

2014-05-01

Little is known about age-dependent variation in outcomes of cervical cytology with modern technologies. This population-based study evaluated age-dependent changes after routine implementation of ThinPrep and SurePath technology in two independent laboratories, and controlled for time trends in a third laboratory using manually read conventional cytology continually. Data were collected from the Danish National Health Care Registers. For each laboratory, we compared proportions of abnormal cytology defined as atypical squamous cells of undetermined significance or worse (ASCUS+) by age and technology phase. The study included 489,960 cytological samples with no recent abnormality from women aged 23-59 years, routinely screened between 1998 and 2007. Implementation of SurePath liquid-based cytology (LBC) was followed by an increase in abnormal cytology in women aged 23-29 years from 4.6 to 6.1%, relative proportion (RP): 1.31 [95% confidence interval (CI): 1.08-1.61], and a decrease in women aged 45-59 years from 2.9 to 2.0%, RP: 0.71 (95% CI: 0.60-0.83). Implementation of ThinPrep LBC was followed by a decrease in abnormal cytology both in women aged 23-29 years from 7.7 to 6.8%, RP: 0.89 (95% CI: 0.78-1.02) and in women aged 45-59 years from 3.4 to 1.0%, RP: 0.30 (95% CI: 0.24-0.37). With implementation of imaging-assisted reading, regardless of the brand of technology, the proportion of abnormality increased by around 30% in all age groups (range from 19 to 41%). In the laboratory with unchanged technology no trends in abnormality proportions were observed. The impact of LBC implementation on cytological abnormality proportions varied considerably across age groups. © 2013 UICC.

Incidence of abnormal imaging and recurrent pyelonephritis after first febrile urinary tract infection in children 2 to 24 months old.

PubMed

Juliano, Trisha M; Stephany, Heidi A; Clayton, Douglass B; Thomas, John C; Pope, John C; Adams, Mark C; Brock, John W; Tanaka, Stacy T

2013-10-01

The AAP (American Academy of Pediatrics) no longer recommends voiding cystourethrogram in children 2 to 24 months old who present with a first urinary tract infection if renal-bladder ultrasound is normal. We identified factors associated with abnormal imaging and recurrent pyelonephritis in this population. We retrospectively evaluated children diagnosed with a first episode of pyelonephritis at age 2 to 24 months using de-identified electronic medical record data from an institutional database. Data included age at first urinary tract infection, gender, race/ethnicity, need for hospitalization, intravenous antibiotic use, history of abnormal prenatal ultrasound, renal-bladder ultrasound and voiding cystourethrogram results, urinary tract infection recurrence and surgical intervention. Risk factors for abnormal imaging and urinary tract infection recurrence were analyzed by univariate logistic regression, the chi-square test and survival analysis. We identified 174 patients. Of the 154 renal-bladder ultrasounds performed 59 (38%) were abnormal. Abnormal prenatal ultrasound (p = 0.01) and the need for hospitalization (p = 0.02) predicted abnormal renal-bladder ultrasound. Of the 95 patients with normal renal-bladder ultrasound 84 underwent voiding cystourethrogram. Vesicoureteral reflux was more likely in patients who were white (p = 0.003), female (p = 0.02) and older (p = 0.04). Despite normal renal-bladder ultrasound, 23 of 84 patients (24%) had dilating vesicoureteral reflux. Of the 95 patients with normal renal-bladder ultrasound 14 (15%) had recurrent pyelonephritis and 7 (7%) went on to surgical intervention. Despite normal renal-bladder ultrasound after a first pyelonephritis episode, a child may still have vesicoureteral reflux, recurrent pyelonephritis and the need for surgical intervention. If voiding cystourethrogram is deferred, parents should be counseled on these risks. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

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

PubMed

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

2011-09-01

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

Health fair screening: the clinical utility of the comprehensive metabolic profile.

PubMed

Alpert, Jeffrey P; Greiner, Allen; Hall, Sandra

2004-01-01

Health fairs are a common method used by providers and health care organizations to provide screening tests, including comprehensive metabolic profiles (CMPs), to asymptomatic individuals. No national organizations currently recommend the complete CMP as a screening test for asymptomatic individuals in primary care settings. This study evaluated the value of CMPs in a health fair setting by measuring the ability of a health fair CMP to predict new medical diagnoses among residents of a sparsely populated rural county. Volunteer participants submitted fasting blood samples at a health fair conducted by a county health center in a county with 2,531 total residents. CMP values were determined to be "normal" or "abnormal" based on laboratory reference ranges and clinical judgment of the health center physicians. Medical records were reviewed 4 months later to determine if participants with abnormal CMP values had been diagnosed with new medical conditions as a result of the screening tests. Analysis was conducted to evaluate CMP test characteristics and determine whether demographic factors or specific CMP values predicted new medical diagnoses in the participants. Out of 478 health fair participants, 73 individuals had at least one abnormal CMP value. The most frequently occurring abnormal value was an elevated glucose level, with Hispanic participants significantly more likely to have this abnormality than whites. After all evaluation was completed, only about 1% of tested subjects had a new diagnosis as a result of the screening CMP test; most abnormal CMP tests did not result in a new diagnosis. The positive predictive value for an abnormal test resulting in a new medical diagnosis was 0.356. Comprehensive metabolic profiles have limited value as a screening tool in asymptomatic populations at health fairs.

Electrocardiographic changes in hospitalized patients with leptospirosis over a 10-year period

PubMed Central

Škerk, Vedrana; Markotić, Alemka; Puljiz, Ivan; Kuzman, Ilija; Tošev, Elvira Čeljuska; Habuš, Josipa; Turk, Nenad; Begovac, Josip

2011-01-01

Summary Background The aim of this study was to investigate the incidence and type of ECG changes in patients with leptospirosis regardless of clinical evidence of cardiac involvement. Material/Methods A total of 97 patients with serologically confirmed leptospirosis treated at the University Hospital for Infectious Diseases „Dr. Fran Mihaljević‟ in Zagreb, Croatia, were included in this retrospective study. A 12-lead resting ECG was routinely performed in the first 2 days after hospital admission. Thorough past and current medical history was obtained, and careful physical examination and laboratory tests were performed. Results Abnormal ECG findings were found in 56 of 97 (58%) patients. Patients with abnormal ECG had significantly elevated values of bilirubin and alanine aminotransferase, lower values of potassium and lower number of platelets, as well as more frequently recorded abnormal chest x-ray. Non-specific ventricular repolarization disturbances were the most common abnormal ECG finding. Other recorded ECG abnormalities were sinus tachycardia, right branch conduction disturbances, low voltage of the QRS complex in standard limb leads, supraventricular and ventricular extrasystoles, intraventricular conduction disturbances, atrioventricular block first-degree and atrial fibrillation. Myopericarditis was identified in 4 patients. Regardless of ECG changes, the most commonly detected infection was with Leptospira interrogans serovar Australis, Leptospira interrogans serovar Saxkoebing and Leptospira kirschneri serovar Grippotyphosa. Conclusions The ECG abnormalities are common at the beginning of disease and are possibly caused by the direct effect of leptospires or are the non-specific result of a febrile infection and metabolic and electrolyte abnormalities. New studies are required for better understanding of the mechanism of ECG alterations in leptospirosis. PMID:21709630

Fatty acid methyl esters are detectable in the plasma and their presence correlates with liver dysfunction.

PubMed

Aleryani, Samir Lutf; Cluette-Brown, Joanne E; Khan, Zia A; Hasaba, Hasan; Lopez de Heredia, Luis; Laposata, Michael

2005-09-01

Methanol is a component of certain alcoholic beverages and is also an endogenously formed product. On this basis, we have proposed that methanol may promote synthesis of fatty acid methyl esters (FAMEs) in the same way that ethanol promotes fatty acid ethyl ester (FAEE) synthesis. We tested the hypothesis that FAMEs appear in the blood after ethanol intake. Patient plasma samples obtained from our laboratory (n=78) were grouped according to blood ethanol concentrations (intoxicated, blood ethanol >800 mg/l) and non-intoxicated. These samples were further subdivided into groups based on whether the patient had normal or abnormal liver function tests (abnormal, defined as > or =1 abnormality of plasma alanine and aspartate aminotransferase, albumin, total bilirubin, and alkaline phosphatase). A separate set of plasma samples were also divided into normal and abnormal groups based on pancreatic function tests (amylase and lipase). There were no patients with detectable ethanol in this group. Patients with abnormalities in pancreatic function tests were included upon recognition of endogenously produced FAMEs by patients with liver function test abnormalities. FAMEs were extracted from plasma and individual species of FAMEs quantified by gas chromatography-mass spectrometry (GC/MS). Increased concentrations of FAME were found in patient samples with evidence of liver dysfunction, regardless of whether or not they were intoxicated (n=21, p=0.01). No significant differences in plasma FAME concentrations were found between patients with normal (n=15) versus abnormal pancreatic function tests (n=22, p=0.72). The presence of FAMEs in human plasma may be related to the existence of liver disease, and not to blood ethanol concentrations or pancreatic dysfunction. The metabolic pathways associated with FAME production in patients with impaired liver function remain to be identified.

Empirical data on 220 families with de novo or inherited paracentric inversions

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

Eyre, J.; McConkie-Rosell, A.; Tripp, T.

Six new cases of paracentric inversions (3 detected prenatally) are presented and added to an expanding database of paracentric inversions. Three inversions were associated with an abnormal phenotype and detected postnatally: inv(2)(p21p23), inv(13)(q14q34), and inv(18)(q12.3q23). The present database of paracentric inversions includes 220 families reported. All chromosomes were involved except chromosome 20. The most frequent inversions were found on chromosomes 1, 3, 7, 11, and 14. 48 index cases had an abnormal phenotype not explainable by other causes such as additional chromosome abnormalities. Of these, 12 were de novo and 36 familial. By contrast, of the 122 index cases withmore » normal phenotype, there were 8 de novo and 87 familial cases (rest unknown). Ascertainment bias probably accounts for some of the abnormal inherited inversions cases. Maternally inherited inversions were more frequent than paternally inherited (72 versus 55). Inversions were found in males more than females (ratio of 4 to 3). There were some paracentric inversions that appear to be less involved with abnormal phenotypes (e.g., 11q21q23) than other inversions (e.g., inv X and Turner syndrome). An interesting observation which warrants further investigation is the excess number of fetal losses and karyotypically abnormal progeny in paracentric inversion carriers. The presence of additional karyotypic abnormalities in the children might be explainable by interchromosomal effects and chromosome position changes in the nucleus. Genetic counseling for paracentric inversions should take into consideration mode of ascertainment, inheritance, and chromosome involved. We solicit other cases of paracentric inversions to make this database more useful in counseling patients and families.« less

Dysphagia and nutritional status in multiple sclerosis.

PubMed

Thomas, F J; Wiles, C M

1999-08-01

In this observational study of patients with multiple sclerosis (MS) admitted to a regional neurology centre we assessed the frequency of dysphagia (objectively defined), dysphagia related symptoms, bulbar signs and nutritional status. We studied 79 consecutive admissions with MS (24 at diagnostic admission and 55 more advanced cases admitted for treatment and/or rehabilitation): normative swallowing data were from 181 healthy controls. Swallowing symptoms and signs were semi-quantitatively measured and compared to healthy controls. Dysphagia was defined by a quantitative water test. Disability was determined by Kurtzke's Expanded Disability Status Scale and Barthel's index. Nutritional status was assessed by body mass index, estimated percentage body fat from skin fold thickness measurements at four sites, a global evaluation of nutrition, the presence of pressure sores and the pressure sore risk using the Waterlow score. Patients with MS were more likely to complain of abnormal swallowing, of coughing when eating, and of food 'going down the wrong way' than healthy controls (P < 0.005). These significantly associated symptoms had high specificity but relatively low sensitivity. 43% of patients had abnormal swallowing, almost half of whom did not complain of it: abnormal swallowing was associated with several factors including abnormal brainstem/cerebellar function, disability, vital capacity, and depression score. Those with abnormal swallowing had higher Waterlow scores (P < 0.001), but, overall, abnormal swallowing was not associated with a difference in nutritional indices or incidence of pressure sores. In summary, abnormal swallowing is common in MS although often not complained of. It is associated with disordered brainstem/cerebellar function, overall disability, depressed mood and low vital capacity. It was not associated with major nutritional failure or pressure sores in this study.

Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension.

PubMed

De Groote, Katya; Devos, Daniël; Van Herck, Koen; Demulier, Laurent; Buysse, Wesley; De Schepper, Jean; De Wolf, Daniël

2015-09-01

Hypertension in Turner syndrome (TS) is a multifactorial, highly prevalent and significant problem that warrants timely diagnosis and rigorous treatment. The objective of this study was to investigate the association between abnormal aortic arch morphology and hypertension in adult TS patients. This was a single centre retrospective study in 74 adult TS patients (age 29.41 ± 8.91 years) who underwent a routine cardiac MRI. Patients were assigned to the hypertensive group (N = 31) if blood pressure exceeded 140/90 mmHg and/or if they were treated with antihypertensive medication. Aortic arch morphology was evaluated on MRI images and initially assigned as normal (N = 54) or abnormal (N = 20), based on the curve of the transverse arch and the distance between the left common carotid-left subclavian artery. We additionally used a new more objective method to describe aortic arch abnormality in TS by determination of the relative position of the highest point of the transverse arch (AoHP). Logistic regression analysis showed that hypertension is significantly and independently associated with age, BMI and abnormal arch morphology, with a larger effect size for the new AoHP method than for the classical method. TS patients with hypertension and abnormal arch morphology more often had dilatation of the ascending aorta. There is a significant association between abnormal arch morphology and hypertension in TS patients, independent of age and BMI, and not related to other structural heart disease. We suggest that aortic arch morphology should be included in the risk stratification for hypertension in TS and propose a new quantitative method to express aortic arch morphology.

Performance of non-neurological older adults on the Wisconsin Card Sorting Test and the Stroop Color-Word Test: normal variability or cognitive impairment?

PubMed

Gunner, Jessica H; Miele, Andrea S; Lynch, Julie K; McCaffrey, Robert J

2012-06-01

There is currently no standard criterion for determining abnormal test scores in neuropsychology; thus, a number of different criteria are commonly used. We investigated base rates of abnormal scores in healthy older adults using raw and T-scores from indices of the Wisconsin Card Sorting Test and Stroop Color-Word Test. Abnormal scores were examined cumulatively at seven cutoffs including >1.0, >1.5, >2.0, >2.5, and >3.0 standard deviations (SD) from the mean as well as those below the 10th and 5th percentiles. In addition, the number of abnormal scores at each of the seven cutoffs was also examined. Results showed when considering raw scores, ∼15% of individuals obtained scores>1.0 SD from the mean, around 10% were less than the 10th percentile, and 5% fell >1.5 SD or <5th percentile from the mean. Using T-scores, approximately 15%-20% and 5%-10% of scores were >1.0 and >1.5 SD from the mean, respectively. Roughly 15% and 5% fell at the <10th and <5th percentiles, respectively. Both raw and T-scores>2.0 SD from the mean were infrequent. Although the presence of a single abnormal score at 1.0 and 1.5 SD from the mean or at the 10th and 5th percentiles was not unusual, the presence of ≥2 abnormal scores using any criteria was uncommon. Consideration of base rate data regarding the percentage of healthy individuals scoring in the abnormal range should help avoid classifying normal variability as neuropsychological impairment.

Body fat percentage is associated with cardiometabolic dysregulation in BMI-defined normal weight subjects.

PubMed

Shea, J L; King, M T C; Yi, Y; Gulliver, W; Sun, G

2012-09-01

Nearly 25% of normal weight individuals display abnormal metabolic profiles associated with obesity. As a wide range in body fat percentage (%BF) exists for BMI-defined normal weight individuals, we investigated whether elevated %BF (determined using DXA) was associated with cardiometabolic dysregulation among 977 normal weight subjects (192 men, 785 women) from the Canadian province of Newfoundland and Labrador. BMI and %BF were measured after a 12-h fasting period. Cardiometabolic abnormalities considered included elevated triglyceride, glucose and hsCRP levels, decreased HDL cholesterol, insulin resistance, and hypertension. Subjects were classified as metabolically healthy (0 or 1 cardiometabolic abnormality) or abnormal (≥2 cardiometabolic abnormalities) and divided into sex-specific %BF tertiles as follows: low (≤15.2% men, ≤29.7% women), medium (15.3-20.7%% men, 29.8-34.9%% women) and high (≥20.8% men, ≥35.0% women). The prevalence of the metabolically abnormal phenotype was higher among medium and high %BF subjects (12.0% and 19.5%, respectively) compared to the low group (7.4%; p < 0.05). Furthermore, the odds of being metabolically abnormal were 1.61 (95% CI 0.94-2.77) for medium %BF subjects compared to the low group and nearly tripled for high %BF subjects (OR 2.73, 95% CI 1.63-4.86). ORs remained significant after further adjustment for waist circumference. Our findings indicate that those with elevated %BF are at increased risk of developing cardiometabolic disease despite having a normal BMI. Future development of adequate screening tools to identify these individuals is crucial to the prevention of obesity-associated disease. Copyright © 2010 Elsevier B.V. All rights reserved.

Specific Shoulder Pathoanatomy in Semiprofessional Water Polo Players

PubMed Central

Klein, Maria; Tarantino, Ignazio; Warschkow, René; Berger, Claus Joachim; Zdravkovic, Vilijam; Jost, Bernhard; Badulescu, Michael

2014-01-01

Background: Shoulders of throwing and swimming athletes are highly stressed joints that often show structural abnormalities on magnetic resonance imaging (MRI). However, while water polo players exhibit a combination of throwing and swimming movements, a specific pattern of pathological findings has not been described. Purpose: To assess specific MRI abnormalities in shoulders of elite water polo players and to compare these findings with a healthy control group. Study Design: Cross-sectional study; Level of evidence, 3. Methods: After performing a power analysis, volunteers were recruited for this study. Both shoulders of 28 semiprofessional water polo players and 15 healthy volunteers were assessed clinically (based on the Constant score) and had bilateral shoulder MRIs. The shoulders were clustered into 3 groups: 28 throwing and 28 nonthrowing shoulders of water polo athletes and 30 shoulders of healthy control subjects. Results: Twenty-eight male water polo players with an average age of 24 years and 15 healthy subjects (30 shoulders) with an average age of 31 years were examined. Compared with controls, significantly more MRI abnormalities in the water polo players' throwing shoulders could be found in the subscapularis, infraspinatus, and posterior labrum (P = .001, P = .024, and P = .041, respectively). Other structures showed no statistical differences between the 3 groups, including the supraspinatus tendon, which had abnormalities in 36% of throwing versus 32% of nonthrowing shoulders and 33% of control shoulders. All throwing shoulders showed abnormal findings in the MRI, but only 8 (29%) were symptomatic. Conclusion: The shoulders of semiprofessional water polo players demonstrated abnormalities in subscapularis and infraspinatus tendons that were not typical abnormalities for swimmers or throwing athletes. Clinical Relevance: The throwing shoulders of water polo players have specific MRI changes. Clinical symptoms do not correlate with the MRI findings. PMID:26535326

Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.

PubMed

Baker, Kimberly; Sanchez-de-Toledo, Joan; Munoz, Ricardo; Orr, Richard; Kiray, Shareen; Shiderly, Dana; Clemens, Michele; Wearden, Peter; Morell, Victor O; Chrysostomou, Constantinos

2012-01-01

Objective.  Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design.  Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results.  One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion.  Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes. © 2011 Wiley Periodicals, Inc.

Weight-adjusted lean body mass and calf circumference are protective against obesity-associated insulin resistance and metabolic abnormalities.

PubMed

Takamura, Toshinari; Kita, Yuki; Nakagen, Masatoshi; Sakurai, Masaru; Isobe, Yuki; Takeshita, Yumie; Kawai, Kohzo; Urabe, Takeshi; Kaneko, Shuichi

2017-07-01

To test the hypothesis that preserved muscle mass is protective against obesity-associated insulin resistance and metabolic abnormalities, we analyzed the relationship of lean body mass and computed tomography-assessed sectional areas of specific skeletal muscles with insulin resistance and metabolic abnormalities in a healthy cohort. A total of 195 subjects without diabetes who had completed a medical examination were included in this study. Various anthropometric indices such as circumferences of the arm, waist, hip, thigh, and calf were measured. Body composition (fat and lean body mass) was determined by bioelectrical impedance analysis. Sectional areas of specific skeletal muscles (iliopsoas, erector spinae, gluteus, femoris, and rectus abdominis muscles) were measured using computed tomography. Fat and lean body mass were significantly correlated with metabolic abnormalities and insulin resistance indices. When adjusted by weight, relationships of fat and lean body mass with metabolic parameters were mirror images of each other. The weight-adjusted lean body mass negatively correlated with systolic and diastolic blood pressures; fasting plasma glucose, HbA1c, alanine aminotransferase, and triglyceride, and insulin levels; and hepatic insulin resistance indices, and positively correlated with HDL-cholesterol levels and muscle insulin sensitivity indices. Compared with weight-adjusted lean body mass, weight-adjusted sectional areas of specific skeletal muscles showed similar, but not as strong, correlations with metabolic parameters. Among anthropometric measures, the calf circumference best reflected lean body mass, and weight-adjusted calf circumference negatively correlated with metabolic abnormalities and insulin resistance indices. Weight-adjusted lean body mass and skeletal muscle area are protective against weight-associated insulin resistance and metabolic abnormalities. The calf circumference reflects lean body mass and may be useful as a protective marker against obesity-associated metabolic abnormalities.

PHACE syndrome: new views on diagnostic criteria.

PubMed

Poetke, M; Frommeld, T; Berlien, H P

2002-12-01

The association of large facial hemangiomas with posterior fossa malformations and vascular anomalies has been termed the PHACE syndrome. It is characterized by the association of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, and eye abnormalities. Since most articles focus on isolated case reports, an extended retrospective literature review of all reports of large hemangiomas with associated abnormalities of the central nervous system and other malformations was performed to examine the clinical features, and other not as yet reported associated anomalies. Reports were found on 59 patients with PHACE syndrome, to which we added ten cases of our own. The Dandy-Walker syndrome is the most common CNS abnormality reported in association with PHACE syndrome and was seen in 48 (81 %) patients. Arterial malformations were found in 13 (22 %) cases; only 11 patients (19 %) had structural arterial abnormalities without associated Dandy-Walker complex. As published, about one third of patients (31 %) had further ophthalmologic abnormalities, and cardiac anomalies, including coarctation of the aorta. Subglottic hemangiomas were seen in 4 (7 %) patients and ventral developmental defects also in 3 cases. In seven of 59 patients (12 %) with PHACE syndrome, intracranial hemangiomas were present. This study demonstrates that among other CNS abnormalities, special attention should be given to intracranial hemangiomas which seems to be a peculiar phenotype of PHACE syndrome. We therefore suggest that a sixth criterion should be added to the five minimal inclusion criteria for PHACE syndrome. The inclusion criteria would then be: arterial abnormalities or/and intracranial hemangiomas. On the basis of our experience with our patients and with those previously reported, we stress the importance of using contrast-enhanced imaging to detect intracranial lesions.

Dietary Exposure to Brominated Flame Retardants and Abnormal Pap Test Results

PubMed Central

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

2011-01-01

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

DTI-measured white matter abnormalities in adolescents with Conduct Disorder

PubMed Central

Haney-Caron, Emily; Caprihan, Arvind; Stevens, Michael C.

2013-01-01

Emerging research suggests that antisocial behavior in youth is linked to abnormal brain white matter microstructure, but the extent of such anatomical connectivity abnormalities remain largely untested because previous Conduct Disorder (CD) studies typically have selectively focused on specific frontotemporal tracts. This study aimed to replicate and extend previous frontotemporal diffusion tensor imaging (DTI) findings to determine whether noncomorbid CD adolescents have white matter microstructural abnormalities in major white matter tracts across the whole brain. Seventeen CD-diagnosed adolescents recruited from the community were compared to a group of 24 non-CD youth which did not differ in average age (12–18) or gender proportion. Tract-based spatial statistics (TBSS) fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) measurements were compared between groups using FSL nonparametric two-sample t test, clusterwise whole-brain corrected, p<.05. CD FA and AD deficits were widespread, but unrelated to gender, verbal ability, or CD age of onset. CD adolescents had significantly lower FA and AD values in frontal lobe and temporal lobe regions, including frontal lobe anterior/superior corona radiata, and inferior longitudinal and fronto-occpital fasciculi passing through the temporal lobe. The magnitude of several CD FA deficits was associated with number of CD symptoms. Because AD, but not RD, differed between study groups, abnormalities of axonal microstructure in CD rather than myelination are suggested. This study provides evidence that adolescent antisocial disorder is linked to abnormal white matter microstructure in more than just the uncinate fasciulcus as identified in previous DTI studies, or frontotemporal brain structures as suggested by functional neuroimaging studies. Instead, neurobiological risk specific to antisociality in adolescence is linked to microstructural abnormality in numerous long-range white matter connections among many diverse different brain regions. PMID:24139595

Impact of brain injury on functional measures of amplitude-integrated EEG at term equivalent age in premature infants.

PubMed

El Ters, N M; Vesoulis, Z A; Liao, S M; Smyser, C D; Mathur, A M

2017-08-01

To evaluate the association between qualitative and quantitative amplitude-integrated EEG (aEEG) measures at term equivalent age (TEA) and brain injury on magnetic resonance imaging (MRI) in preterm infants. A cohort of premature infants born at <30 weeks of gestation and with moderate-to-severe MRI injury on a TEA MRI scan was identified. A contemporaneous group of gestational age-matched control infants also born at <30 weeks of gestation with none/mild injury on MRI was also recruited. Quantitative aEEG measures, including maximum and minimum amplitudes, bandwidth span and spectral edge frequency (SEF 90 ), were calculated using an offline software package. The aEEG recordings were qualitatively scored using the Burdjalov system. MRI scans, performed on the same day as aEEG, occurred at a mean postmenstrual age of 38.0 (range 37 to 42) weeks and were scored for abnormality in a blinded manner using an established MRI scoring system. Twenty-eight (46.7%) infants had a normal MRI or mild brain abnormality, while 32 (53.3%) infants had moderate-to-severe brain abnormality. Univariate regression analysis demonstrated an association between severity of brain abnormality and quantitative measures of left and right SEF 90 and bandwidth span (β=-0.38, -0.40 and 0.30, respectively) and qualitative measures of cyclicity, continuity and total Burdjalov score (β=-0.10, -0.14 and -0.12, respectively). After correcting for confounding variables, the relationship between MRI abnormality score and aEEG measures of SEF 90 , bandwidth span and Burdjalov score remained significant. Brain abnormalities on MRI at TEA in premature infants are associated with abnormalities on term aEEG measures, suggesting that anatomical brain injury may contribute to delay in functional brain maturation as assessed using aEEG.

What women want. Women's preferences for the management of low-grade abnormal cervical screening tests: a systematic review.

PubMed

Frederiksen, M E; Lynge, E; Rebolj, M

2012-01-01

If human papillomavirus (HPV) testing will replace cytology in primary cervical screening, the frequency of low-grade abnormal screening tests will double. Several available alternatives for the follow-up of low-grade abnormal screening tests have similar outcomes. In this situation, women's preferences have been proposed as a guide for management decisions. To determine women's preferences for the follow-up of low-grade cervical screening abnormalities. Using Medical Subject Headings (MeSH) terms, PubMed was searched for articles published up to December 2010. The reference lists of the retrieved studies were consulted. Studies asking women to state a preference between active follow-up and observation for the management of low-grade abnormalities on screening cytology or HPV tests. Information on study design, participants and outcomes was retrieved using a prespecified form. Studies were sorted by design. Thirteen studies were included in the review. In all five studies that surveyed women with abnormal tests before any management had started, two-thirds preferred active follow-up, predominantly as immediate colposcopy, to observation, predominantly as repeated Pap smears. In all but two studies testing other situations, women more often expressed a preference for active follow-up than for observation; however, women appeared to be somewhat more willing to accept observation if reassured of the low risk of cervical cancer. Even for low-grade abnormal cervical tests, women tend to prefer active management strategies. It may be a challenge to meet their expectations of optimal follow-up when HPV testing is used in primary screening. © 2011 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2011 RCOG.

Attention deficit hyperactivity disorder increases the risk of having abnormal eating behaviours in obese adults.

PubMed

Docet, M F; Larrañaga, A; Pérez Méndez, L F; García-Mayor, R V

2012-06-01

To determine the rate of abnormal eating behaviours in obese adult patients with attention deficit hyperactivity disorder (ADHD) in comparison with obese adult patients without ADHD. This case-control study includes: obese adult patients defined by a body mass index (BMI) ≥30 kg/m², screening positive in the adult ADHD self-report scale-V1.1. (ASRS-V1.1), attending the Nutrition Section, as cases; and obese adult patients screening negative, as controls. Weight, height and BMI were determined in all the participants. The rate of abnormal eating behaviours was determined using an eating pattern questionnaire. Forty-five out of 51 (88.2%) cases vs 127 out of 179 (70.9%) controls had abnormal eating behaviours (p=0.01). Eating between-meal snacks was found in 39 (76.5%) cases vs 107 (59.8%) controls (p=0.03), going on binge eating episodes in 28 (54.9%) vs 42 (23.5%) (p=0.00), waking up at night to eat in 11 (21.6%) vs 16 (8.9%) (p=0.01), eating large amounts of food in 13 (25.5%) vs 38 (21.2%) (p=0.52), and eating in secret in 11 (21.6%) vs 16 (8.9%) (p=0.01), respectively. This is the first study that determines the rate of these abnormal eating behaviours in obese adult patients with ADHD in comparison with obese adult patients without ADHD. A high rate of abnormal eating behaviours was observed in obese patients with ADHD. Our results suggest that ADHD is a risk factor for the development of these abnormal eating behaviours, which may be contributing factors of obesity and the unsuccessful treatment of obese patients.

The ability of an electrocardiogram to predict fatal and non-fatal cardiac events in asymptomatic middle-aged subjects.

PubMed

Terho, Henri K; Tikkanen, Jani T; Kenttä, Tuomas V; Junttila, M Juhani; Aro, Aapo L; Anttonen, Olli; Kerola, Tuomas; Rissanen, Harri A; Knekt, Paul; Reunanen, Antti; Huikuri, Heikki V

2016-11-01

The long-term prognostic value of a standard 12-lead electrocardiogram (ECG) for predicting cardiac events in apparently healthy middle-aged subjects is not well defined. A total of 9511 middle-aged subjects (mean age 43 ± 8.2 years, 52% males) without a known cardiac disease and with a follow-up 40 years were included in the study. Fatal and non-fatal cardiac events were collected from the national registries. The predictive value of ECG was separately analyzed for 10 and 30 years. Major ECG abnormalities were classified according to the Minnesota code. Subjects with major ECG abnormalities (N = 1131) had an increased risk of cardiac death after 10-years (adjusted hazard ratio [HR] 1.7; 95% confidence interval [95% CI], 1.1-2.5, p = 0.009) and 30-years of follow-up (HR 1.3, 95% CI, 1.1-1.5, p < 0.001). Model discrimination measured with the C-index showed only a minor improvement with the inclusion of ECG abnormalities: 0.851 versus 0.853 and 0.742 versus 0.743 for 10- and 30-year follow-up, respectively. ECG did not predict non-fatal cardiac events after 10-years or 30-years of follow-up. Major ECG abnormalities are associated with an increased risk of short and long-term cardiac mortality in middle-aged subjects. However, the improvement in discrimination between subjects with and without fatal cardiac events was marginal with abnormal ECG. Abnormalities observed on 12-lead electrocardiogram are shown to have prognostic significance for cardiac events in elderly subjects without known cardiac disease. Our results suggest that ECG abnormalities increase the risk of fatal cardiac events also in middle-aged healthy subjects.

Structural abnormalities and persistent complaints after an ankle sprain are not associated: an observational case control study in primary care.

PubMed

van Ochten, John M; Mos, Marinka C E; van Putte-Katier, Nienke; Oei, Edwin H G; Bindels, Patrick J E; Bierma-Zeinstra, Sita M A; van Middelkoop, Marienke

2014-09-01

Persistent complaints are very common after a lateral ankle sprain. To investigate possible associations between structural abnormalities on radiography and MRI, and persistent complaints after a lateral ankle sprain. Observational case control study on primary care patients in general practice. Patients were selected who had visited their GP with an ankle sprain 6-12 months before the study; all received a standardised questionnaire, underwent a physical examination, and radiography and MRI of the ankle. Patients with and without persistent complaints were compared regarding structural abnormalities found on radiography and MRI; analyses were adjusted for age, sex, and body mass index. Of the 206 included patients, 98 had persistent complaints and 108 did not. No significant differences were found in structural abnormalities between patients with and without persistent complaints. In both groups, however, many structural abnormalities were found on radiography in the talocrural joint (47.2% osteophytes and 45.1% osteoarthritis) and the talonavicular joint (36.5% sclerosis). On MRI, a high prevalence was found of bone oedema (33.8%) and osteophytes (39.5) in the talocrural joint; osteophytes (54.4%), sclerosis (47.2%), and osteoarthritis (55.4%, Kellgren and Lawrence grade >1) in the talonavicular joint, as well as ligament damage (16.4%) in the anterior talofibular ligament. The prevalence of structural abnormalities is high on radiography and MRI in patients presenting in general practice with a previous ankle sprain. There is no difference in structural abnormalities, however, between patients with and without persistent complaints. Using imaging only will not lead to diagnosis of the explicit reason for the persistent complaint. © British Journal of General Practice 2014.

The Frequency and Severity of Magnetic Resonance Imaging Abnormalities in Infants with Mild Neonatal Encephalopathy.

PubMed

Walsh, Brian H; Neil, Jeffrey; Morey, JoAnn; Yang, Edward; Silvera, Michelle V; Inder, Terrie E; Ortinau, Cynthia

2017-08-01

To assess and contrast the incidence and severity of abnormalities on cerebral magnetic resonance imaging (MRI) between infants with mild, moderate, and severe neonatal encephalopathy who received therapeutic hypothermia. This retrospective cohort studied infants with mild, moderate, and severe neonatal encephalopathy who received therapeutic hypothermia at a single tertiary neonatal intensive care unit between 2013 and 2015. Two neuroradiologists masked to the clinical condition evaluated brain MRIs for cerebral injury after therapeutic hypothermia using the Barkovich classification system. Additional abnormalities not included in this classification system were also noted. The rate, pattern, and severity of abnormalities/injury were compared across the grades of neonatal encephalopathy. Eighty-nine infants received therapeutic hypothermia and met study criteria, 48 with mild neonatal encephalopathy, 35 with moderate neonatal encephalopathy, and 6 with severe neonatal encephalopathy. Forty-eight infants (54%) had an abnormality on MRI. There was no difference in the rate of overall MRI abnormalities by grade of neonatal encephalopathy (mild neonatal encephalopathy 54%, moderate neonatal encephalopathy 54%, and severe neonatal encephalopathy 50%; P= .89). Basal ganglia/thalamic injury was more common in those with severe neonatal encephalopathy (mild neonatal encephalopathy 4%, moderate neonatal encephalopathy 9%, severe neonatal encephalopathy 34%; P = .03). In contrast, watershed injury did not differ between neonatal encephalopathy grades (mild neonatal encephalopathy 36%, moderate neonatal encephalopathy 32%, severe neonatal encephalopathy 50%; P = .3). Mild neonatal encephalopathy is commonly associated with MRI abnormalities after therapeutic hypothermia. The grade of neonatal encephalopathy during the first hours of life may not discriminate adequately between infants with and without cerebral injury noted on MRI after therapeutic hypothermia. Copyright © 2017 Elsevier Inc. All rights reserved.

Ultrastructural and cellular basis for the development of abnormal myocardial mechanics during the transition from hypertension to heart failure.

PubMed

Shah, Sanjiv J; Aistrup, Gary L; Gupta, Deepak K; O'Toole, Matthew J; Nahhas, Amanda F; Schuster, Daniel; Chirayil, Nimi; Bassi, Nikhil; Ramakrishna, Satvik; Beussink, Lauren; Misener, Sol; Kane, Bonnie; Wang, David; Randolph, Blake; Ito, Aiko; Wu, Megan; Akintilo, Lisa; Mongkolrattanothai, Thitipong; Reddy, Mahendra; Kumar, Manvinder; Arora, Rishi; Ng, Jason; Wasserstrom, J Andrew

2014-01-01

Although the development of abnormal myocardial mechanics represents a key step during the transition from hypertension to overt heart failure (HF), the underlying ultrastructural and cellular basis of abnormal myocardial mechanics remains unclear. We therefore investigated how changes in transverse (T)-tubule organization and the resulting altered intracellular Ca(2+) cycling in large cell populations underlie the development of abnormal myocardial mechanics in a model of chronic hypertension. Hearts from spontaneously hypertensive rats (SHRs; n = 72) were studied at different ages and stages of hypertensive heart disease and early HF and were compared with age-matched control (Wistar-Kyoto) rats (n = 34). Echocardiography, including tissue Doppler and speckle-tracking analysis, was performed just before euthanization, after which T-tubule organization and Ca(2+) transients were studied using confocal microscopy. In SHRs, abnormalities in myocardial mechanics occurred early in response to hypertension, before the development of overt systolic dysfunction and HF. Reduced longitudinal, circumferential, and radial strain as well as reduced tissue Doppler early diastolic tissue velocities occurred in concert with T-tubule disorganization and impaired Ca(2+) cycling, all of which preceded the development of cardiac fibrosis. The time to peak of intracellular Ca(2+) transients was slowed due to T-tubule disruption, providing a link between declining cell ultrastructure and abnormal myocardial mechanics. In conclusion, subclinical abnormalities in myocardial mechanics occur early in response to hypertension and coincide with the development of T-tubule disorganization and impaired intracellular Ca(2+) cycling. These changes occur before the development of significant cardiac fibrosis and precede the development of overt cardiac dysfunction and HF.

Use of magnetic resonance imaging in short stature: data from National Cooperative Growth Study (NCGS) Substudy 8.

PubMed

Kemp, Stephen F; Alter, Craig A; Dana, Ken; Baptista, Joyce; Blethen, Sandra L

2002-05-01

The primary use of magnetic resonance imaging (MRI) in the evaluation of children with short stature (SS) is to discover lesions in the central nervous system (CNS), particularly tumors that may require intervention. MRI has a secondary role in identifying structural abnormalities responsible for growth hormone deficiency (GHD). We examined data from the National Cooperative Growth Study (NCGS) Substudy 8 to determine how American physicians are using MRI in evaluating children with SS. Of the 21,738 short children enrolled in NCGS, 5% underwent MRI during their follow-up. Children who had GH stimulation testing were more likely to have had an MRI than those in whom no GH stimulation test was performed (19% vs 2%, p <0.0001). Moreover, children diagnosed with severe GHD (maximum GH <5 ng/ml) were more likely to have an abnormal finding on MRI. Of these patients, 27% demonstrated an abnormality as compared to 12% and 12.5% in patients with partial GHD and normal GH stimulation test results (>10 ng/ml), respectively. Abnormalities unrelated to the hypothalamus or pituitary represented 30% of these findings, while disorders in pituitary anatomy, including pituitary hypoplasia, pituitary stalk interruption, and ectopic posterior pituitary, represented an additional 30% of abnormal MRI examinations. CNS tumors comprised 23% of abnormal findings in these patients. We conclude that MRI provides significant value in the evaluation of children with SS, by identifying CNS tumors associated with growth failure as well as anatomical abnormalities of the pituitary. These findings are useful in confirming the diagnosis of GHD in children and identifying potential candidates for continued GH replacement in adulthood.

Structural abnormalities and persistent complaints after an ankle sprain are not associated: an observational case control study in primary care

PubMed Central

van Ochten, John M; Mos, Marinka CE; van Putte-Katier, Nienke; Oei, Edwin HG; Bindels, Patrick JE; Bierma-Zeinstra, Sita MA; van Middelkoop, Marienke

2014-01-01

Background Persistent complaints are very common after a lateral ankle sprain. Aim To investigate possible associations between structural abnormalities on radiography and MRI, and persistent complaints after a lateral ankle sprain. Design and setting Observational case control study on primary care patients in general practice. Method Patients were selected who had visited their GP with an ankle sprain 6–12 months before the study; all received a standardised questionnaire, underwent a physical examination, and radiography and MRI of the ankle. Patients with and without persistent complaints were compared regarding structural abnormalities found on radiography and MRI; analyses were adjusted for age, sex, and body mass index. Results Of the 206 included patients, 98 had persistent complaints and 108 did not. No significant differences were found in structural abnormalities between patients with and without persistent complaints. In both groups, however, many structural abnormalities were found on radiography in the talocrural joint (47.2% osteophytes and 45.1% osteoarthritis) and the talonavicular joint (36.5% sclerosis). On MRI, a high prevalence was found of bone oedema (33.8%) and osteophytes (39.5) in the talocrural joint; osteophytes (54.4%), sclerosis (47.2%), and osteoarthritis (55.4%, Kellgren and Lawrence grade >1) in the talonavicular joint, as well as ligament damage (16.4%) in the anterior talofibular ligament. Conclusion The prevalence of structural abnormalities is high on radiography and MRI in patients presenting in general practice with a previous ankle sprain. There is no difference in structural abnormalities, however, between patients with and without persistent complaints. Using imaging only will not lead to diagnosis of the explicit reason for the persistent complaint. PMID:25179068

Ergonomics for enhancing detection of machine abnormalities.

PubMed

Illankoon, Prasanna; Abeysekera, John; Singh, Sarbjeet

2016-10-17

Detecting abnormal machine conditions is of great importance in an autonomous maintenance environment. Ergonomic aspects can be invaluable when detection of machine abnormalities using human senses is examined. This research outlines the ergonomic issues involved in detecting machine abnormalities and suggests how ergonomics would improve such detections. Cognitive Task Analysis was performed in a plant in Sri Lanka where Total Productive Maintenance is being implemented to identify sensory types that would be used to detect machine abnormalities and relevant Ergonomic characteristics. As the outcome of this research, a methodology comprising of an Ergonomic Gap Analysis Matrix for machine abnormality detection is presented.

Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

PubMed Central

Yatsenko, Alexander N.; Yatsenko, Svetlana A.; Weedin, John W.; Lawrence, Amy E.; Patel, Ankita; Peacock, Sandra; Matzuk, Martin M.; Lamb, Dolores J.; Cheung, Sau Wai; Lipshultz, Larry I.

2010-01-01

Purpose The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. Materials and Methods High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. Results The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Conclusions Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood. PMID:20172548

Cardiac perioperative complications in noncardiac surgery.

PubMed

Radovanović, Dragana; Kolak, Radmila; Stokić, Aleksandar; Radovanović, Zoran; Jovanović, Gordana

2008-01-01

Anesthesiologists are confronted with an increasing population of patients undergoing noncardiac surgery who are at risk for cardiac complications in the perioperative period. Perioperative cardiac complications are responsible for significant mortality and morbidity. The aim of the present study was to determine the incidence of perioperative (operative and postoperative) cardiac complications and correlations between the incidence of perioperative cardiac complications and type of surgical procedure, age, presence of concurrent deseases. A total of 100 patients with cardiac diseases undergoing noncardiac surgery were included in the prospective study (Group A 50 patients undergoing intraperitoneal surgery and Group B 50 patients undergoing breast and thyroid surgery). The patients were followed up during the perioperative period and after surgery until leaving hospital to assess the occurrence of cardiac events. Cardiac complications (systemic arterial hypertension, systemic arterial hypotension, abnormalities of cardiac conduction and cardiac rhythm, perioperative myocardial ischemia and acute myocardial infarction) occurred in 64% of the patients. One of the 100 patients (1%) had postoperative myocardial infarction which was fatal. Systemic arterial hypertension occured in 57% of patients intraoperatively and 33% postoperatively, abnormalities of cardiac rhythm in 31% of patients intraoperatively and 17% postoperatively, perioperative myocardial ischemia in 23% of patients intraoperatively and 11% of postoperatively. The most often cardiac complications were systemic arterial hypertension, abnormalities of cardiac rhythm and perioperative mvocardial ischemia. Factors independently associated with the incidence of cardiac complications included the type of surgical procedure, advanced age, duration of anaesthesia and surgery, abnormal preoperative electrocardiogram, abnormal preoperative chest radiography and diabetes.

Glutamatergic abnormalities of the thalamus in schizophrenia: a systematic review.

PubMed

Watis, L; Chen, S H; Chua, H C; Chong, S A; Sim, K

2008-01-01

The thalamus, a key information processing centre in facilitating sensory discrimination and cognitive processes, has been implicated in schizophrenia due to the increasing evidence showing structural and functional thalamic abnormalities. Glutamatergic abnormalities, in particular, have been examined since glutamate is one of the main neurotransmitters found in the thalamus. We aimed to review the existing literature (1978 till 2007) on post-mortem and in vivo studies of the various components of glutamatergic neurotransmission as well as studies of the glutamate receptor genes within the thalamus in schizophrenia. The literature search was done using multiple databases including Scopus, Web of Science, EBSCO host, Pubmed and ScienceDirect. Keywords used were "glutamate", "thalamus", "schizophrenia", "abnormalities", and "glutamatergic". Further searches were made using the bibliographies in the main journals and related papers were obtained. The extant data suggest that abnormalities of the glutamate receptors as well as other molecules involved in glutamatergic neurotransmission (including glutamate transporters and associated proteins, N-methyl D-aspartate (NMDA) receptor-associated intracellular signaling proteins, and glutamatergic enzymes) are found within the thalamus in schizophrenia. There is a pressing need for more rapid replication of findings from post mortem and genetic studies as well as the promotion of multi-component or multi-modality assessments of glutamatergic anomalies within the thalamus in order to allow a better appreciation of disruptions in these molecular networks in schizophrenia. These and future findings may represent potential novel targets for antipsychotic drugs to ameliorate the symptoms of schizophrenia.

[SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome].

PubMed

Xu, G Y; Hao, Q Q; Zhong, L L; Ren, W; Yan, Y; Liu, R Y; Li, J N; Guo, W W; Zhao, H; Yang, S M

2016-11-07

Objective: To determine the relevance between the SOX 10 mutation and Waardenburg syndrome (WS) accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with the SOX 10 mutation. Methods: This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery, Chinese Peoples's Liberation Army General Hospital. The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal. Meanwhile, the possible pathogenic genes of WS, including SOX10, MITF , and PAX 3, were also screened. Patients were divided into two groups according to SOX 10 mutation.The Fisher accuracy test was used to determine statistical difference of inner ear deformation incidence between the two groups. Results: Among all 36 patients, 12 were found to have inner ear abnormality. Most abnormalities were posterior semicircular canal deformations, some accompanied with cochlear deformation and an enlarged vestibule. Among all patients, 9 patients were SOX 10 heterozygous mutation carriers, among which six showed bilateral inner ear abnormality. Fisher accuracy test results suggested a significant correlation between the SOX 10 mutation and inner ear abnormality in WS patients ( P =0.036). Conclusion: This study found that WS patients with the SOX 10 mutation are more likely to have deformed inner ears when compared to WS patients without the SOX 10 mutation.

Abnormal global and local event detection in compressive sensing domain

NASA Astrophysics Data System (ADS)

Wang, Tian; Qiao, Meina; Chen, Jie; Wang, Chuanyun; Zhang, Wenjia; Snoussi, Hichem

2018-05-01

Abnormal event detection, also known as anomaly detection, is one challenging task in security video surveillance. It is important to develop effective and robust movement representation models for global and local abnormal event detection to fight against factors such as occlusion and illumination change. In this paper, a new algorithm is proposed. It can locate the abnormal events on one frame, and detect the global abnormal frame. The proposed algorithm employs a sparse measurement matrix designed to represent the movement feature based on optical flow efficiently. Then, the abnormal detection mission is constructed as a one-class classification task via merely learning from the training normal samples. Experiments demonstrate that our algorithm performs well on the benchmark abnormal detection datasets against state-of-the-art methods.

Morphological abnormalities in elasmobranchs.

PubMed

Moore, A B M

2015-08-01

A total of 10 abnormal free-swimming (i.e., post-birth) elasmobranchs are reported from The (Persian-Arabian) Gulf, encompassing five species and including deformed heads, snouts, caudal fins and claspers. The complete absence of pelvic fins in a milk shark Rhizoprionodon acutus may be the first record in any elasmobranch. Possible causes, including the extreme environmental conditions and the high level of anthropogenic pollution particular to The Gulf, are briefly discussed. © 2015 The Fisheries Society of the British Isles.

Dental management of patient with Williams Syndrome - A case report.

PubMed

Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

2015-01-01

Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

Characterizing abnormal behavior in a large population of zoo-housed chimpanzees: prevalence and potential influencing factors

PubMed Central

Jacobson, Sarah L.; Bloomsmith, Mollie A.

2016-01-01

Abnormal behaviors in captive animals are generally defined as behaviors that are atypical for the species and are often considered to be indicators of poor welfare. Although some abnormal behaviors have been empirically linked to conditions related to elevated stress and compromised welfare in primates, others have little or no evidence on which to base such a relationship. The objective of this study was to investigate a recent claim that abnormal behavior is endemic in the captive population by surveying a broad sample of chimpanzees (Pan troglodytes), while also considering factors associated with the origins of these behaviors. We surveyed animal care staff from 26 accredited zoos to assess the prevalence of abnormal behavior in a large sample of chimpanzees in the United States for which we had information on origin and rearing history. Our results demonstrated that 64% of this sample was reported to engage in some form of abnormal behavior in the past two years and 48% of chimpanzees engaged in abnormal behavior other than coprophagy. Logistic regression models were used to analyze the historical variables that best predicted the occurrence of all abnormal behavior, any abnormal behavior that was not coprophagy, and coprophagy. Rearing had opposing effects on the occurrence of coprophagy and the other abnormal behaviors such that mother-reared individuals were more likely to perform coprophagy, whereas non-mother-reared individuals were more likely to perform other abnormal behaviors. These results support the assertion that coprophagy may be classified separately when assessing abnormal behavior and the welfare of captive chimpanzees. This robust evaluation of the prevalence of abnormal behavior in our sample from the U.S. zoo population also demonstrates the importance of considering the contribution of historical variables to present behavior, in order to better understand the causes of these behaviors and any potential relationship to psychological wellbeing. PMID:27478710

Significance of abnormalities in developmental trajectory and asymmetry of cortical serotonin synthesis in autism.

PubMed

Chandana, Sreenivasa R; Behen, Michael E; Juhász, Csaba; Muzik, Otto; Rothermel, Robert D; Mangner, Thomas J; Chakraborty, Pulak K; Chugani, Harry T; Chugani, Diane C

2005-01-01

The role of serotonin in prenatal and postnatal brain development is well documented in the animal literature. In earlier studies using positron emission tomography (PET) with the tracer alpha[(11)C]methyl-l-tryptophan (AMT), we reported global and focal abnormalities of serotonin synthesis in children with autism. In the present study, we measured brain serotonin synthesis in a large group of autistic children (n = 117) with AMT PET and related these neuroimaging data to handedness and language function. Cortical AMT uptake abnormalities were objectively derived from small homotopic cortical regions using a predefined cutoff asymmetry threshold (>2 S.D. of normal asymmetry). Autistic children demonstrated several patterns of abnormal cortical involvement, including right cortical, left cortical, and absence of abnormal asymmetry. Global brain values for serotonin synthesis capacity (unidirectional uptake rate constant, K-complex) values were plotted as a function of age. K-complex values of autistic children with asymmetry or no asymmetry in cortical AMT uptake followed different developmental patterns, compared to that of a control group of non-autistic children. The autism groups, defined by presence or absence and side of cortical asymmetry, differed on a measure of language as well as handedness. Autistic children with left cortical AMT decreases showed a higher prevalence of severe language impairment, whereas those with right cortical decreases showed a higher prevalence of left and mixed handedness. Global as well as focal abnormally asymmetric development in the serotonergic system could lead to miswiring of the neural circuits specifying hemispheric specialization.

Genomic imprinting as a probable explanation for variable intrafamilial phenotypic expression of an unusual chromosome 3 abnormality

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

Fryburg, J.S.; Shashi, V.; Kelly, T.E.

1994-09-01

We present a 4 generation family in which an abnormal chromosome 3 with dup(3)(q25) segregated from great-grandmother to grandmother to son without phenotypic effect. The son`s 2 daughters have dysmorphic features, mild developmental delays and congenital heart disease. Both girls have the abnormal chr. 3 but are the only family members with the abnormality to have phenotypic effects. An unaffected son of the father has normal chromosomes. FISH with whole chromosome paints for chromosomes 1, 2, 6, 7, 8, 14, 18, and 22 excluded these as the origin of the extra material. Chromosome 3-specific paint revealed a uniform pattern, suggestingmore » that the extra material is from chromosome 3. Comparative genomic hybridization and DNA studies are pending. Possible explanations for the discordance in phenotypes between the 4th generation offspring and the first 3 generations include: an undetected rearrangement in the previous generations that is unbalanced in the two affected individuals; the chromosome abnormality may be a benign variant and unrelated to the phenotype; or, most likely, genomic imprinting. Genomic imprinting is suggested by the observation that a phenotypic effect was only seen after the chromosome was inherited from the father. The mothers in the first two generations appear to have passed the abnormal chr. 3 on without effect. This is an opportunity to delineate a region of the human genome affected by paternal imprinting.« less

Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

PubMed

Skipper, Annalynn

2012-02-01

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

Impact of upper airway abnormalities on the success and adherence to mandibular advancement device treatment in patients with Obstructive Sleep Apnea Syndrome.

PubMed

Prescinotto, Renato; Haddad, Fernanda Louise Martinho; Fukuchi, Ilana; Gregório, Luiz Carlos; Cunali, Paulo Afonso; Tufik, Sérgio; Bittencourt, Lia Rita Azeredo

2015-01-01

The mandibular advancement device (MAD) is a option to treat patients with Obstructive Sleep Apnea Syndrome (OSAS). To assess the influence of upper airway abnormalities on the success of and adherence to MAD in patients with OSAS. Prospective study with 30 patients with mild to moderate OSAS and indications for MAD. The protocol included questionnaires addressing sleep and nasal complaints, polysomnography, and upper airway assessment. The analyzed parameters of patients who showed therapeutic success and failure and those who exhibited good and poor treatment adherence were compared. 28 patients completed the protocol; 64.3% responded successfully to treatment with MAD, and 60.7% exhibited good adherence to treatment. Factors associated with greater success rates were younger age (p=0.02), smaller cervical circumference (p=0.05), and lower AHI at baseline (p=0.05). There was a predominance of patients without nasal abnormalities among patients treated successfully compared to those with treatment failure (p=0.04), which was not observed in relation to adherence. Neither pharyngeal nor facial skeletal abnormalities were significantly associated with either therapeutic success or adherence. MAD treatment success was significantly lower among patients with nasal abnormalities; however, treatment adherence was not influenced by the presence of upper airway or facial skeletal abnormalities. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Chromosome and molecular abnormalities in myelodysplastic syndromes.

PubMed

Fenaux, Pierre

2001-06-01

Cytogenetic abnormalities are seen in approximately 50% of cases of myelodysplastic syndrome (MDS) and 80% of cases of secondary MDS (following chemotherapy or radiotherapy). These abnormalities generally consist of partial or complete chromosome deletion or addition (del5q, -7, +8, -Y, del20q), whereas balanced or unbalanced translocations are rarely found in MDS. Fluorescence hybridization techniques (fluorescence in situ hybridization [FISH], multiplex FISH, and spectral karyotyping) are useful in detecting chromosomal anomalies in cases in which few mitoses are obtained or rearrangements are complex. Ras mutations are the molecular abnormalities most frequently found in MDS, followed by p15 gene hypermethylation, FLT3 duplications, and p53 mutations, but none of these abnormalities are specific for MDS. The rare cases of balanced translocations in MDS have allowed the identification of genes whose rearrangements appear to play a role in the pathogenesis of some cases of MDS. These genes include MDS1-EVI1 in t(3;3) or t(3;21) translocations, TEL in t(5;12), HIP1 in t(5;7), MLF1 in t(3;5), and MEL1 in t(1;3). Genes more frequently implicated in the pathogenesis of MDS cases, such as those involving del5q, remain unknown, although some candidate genes are currently being studied. Cytogenetic and known molecular abnormalities generally carry a poor prognosis in MDS and can be incorporated into prognostic scoring systems such as the International Prognostic Scoring System.

Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.

PubMed

Anaya, G; Molina, A; Valera, M; Moreno-Millán, M; Azor, P; Peral-García, P; Demyda-Peyrás, S

2017-08-01

Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool. All the microsatellites analyzed were highly polymorphic, with a sizeable number of alleles (polymorphic information content > 0.5). Based on this variability, the methodology showed 100% sensitivity and 99.82% specificity to detect the most important sex chromosomal abnormalities reported in horses (chimerism, Turner's syndrome and sex reversal syndromes). The method was also validated with 100% efficiency in 10 individuals previously diagnosed as chromosomally aberrant. This STR screening panel is an efficient and reliable molecular-cytogenetic tool for the early detection of sex chromosomal abnormalities in equines that could be included in breeding programs to save money, effort and time of veterinary practitioners and breeders. © 2017 Stichting International Foundation for Animal Genetics.

[MRI in congenital nystagmus].

PubMed

Denis, D; Girard, N; Toesca, E; Zanin, E; Gambarelli, N; Lebranchu, P; Mancini, J

2010-03-01

Congenital nystagmus (CN) that is present by the age of 3 months is the most common form of nystagmus in childhood. We present a prospective study (2001-2008) in which we report imaging findings in 48 children with CN. Twenty-six boys and 22 girls with CN underwent a complete ophthalmologic assessment and a cerebral MRI (mean age of examination under general anesthesia: 11 months). Three CN groups were formed: neurologic (n=27), sensory visual disturbance (n=14), and isolated (n=7). Cerebral MRI was interpreted by the same pediatric neuroradiologist (NG). Of the children studied, 98 % were born at term. The MRI abnormalities were classified as morphologic abnormalities (malformative or nonmalformative) and as signal abnormalities. The location of brain abnormalities was within the posterior fossa, (brain stem, cerebellum, dental nuclei, cisterna magna) and the cerebral hemisphere (white matter, perivascular spaces, midline commissures, basal ganglia). Pendular nystagmus was prevalent in sensory and neurologic nystagmus. On fundus examination, optic disc abnormalities were present in 70 % (19) of neurologic CN and associated with white matter abnormalities of the optic radiations in 40 % of cases. On MRI, malformative morphologic abnormalities were present in 27 cases, nonmalformative abnormalities were found in 67, and signal abnormalities in 68. Within the brain stem, signal abnormalities were found as a cockade appearance of the posterior pons in the reticular regions (neurologic n=14, sensory n=6, isolated n=3). Other bright (most frequent) signal abnormalities were found within the dentate nuclei of the posterior fossa (neurologic n=10, sensory n=3, isolated n=3) and the cerebral white matter (neurologic n=17, sensory n=7, isolated n=5) of which 24 (neurologic n=15, sensory n=5, isolated n=4) involved the optic radiations. Most of these abnormalities were related and were seen most frequently in neurologic nystagmus. The most frequent association was signal abnormalities of the white matter, ventricular dilatation, and dilatation of the perivascular spaces (60.4 %) (neurologic n=13, sensory n=6). This study showed the fundamental contribution of the cerebral MRI in CN. Cerebral abnormalities were found at the pathways for ocular motility, particularly at the saccadic pathways.

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

PubMed

Lin, Phoebe; Shankar, Suma P; Duncan, Jacque; Slavotinek, Anne; Stone, Edwin M; Rutar, Tina

2010-02-01

Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother. Copyright (c) 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Suppression of the heterotrimeric G protein causes abnormal morphology, including dwarfism, in rice

PubMed Central

Fujisawa, Yukiko; Kato, Teruhisa; Ohki, Shizuka; Ishikawa, Atsushi; Kitano, Hidemi; Sasaki, Takuji; Asahi, Tadashi; Iwasaki, Yukimoto

1999-01-01

Transgenic rice containing an antisense cDNA for the α subunit of rice heterotrimeric G protein produced little or no mRNA for the subunit and exhibited abnormal morphology, including dwarf traits and the setting of small seeds. In normal rice, the mRNA for the α subunit was abundant in the internodes and florets, the tissues closely related to abnormality in the dwarf transformants. The position of the α-subunit gene was mapped on rice chromosome 5 by mapping with the restriction fragment length polymorphism. The position was closely linked to the locus of a rice dwarf mutant, Daikoku dwarf (d-1), which is known to exhibit abnormal phenotypes similar to those of the transformants that suppressed the endogenous mRNA for the α subunit by antisense technology. Analysis of the cDNAs for the α subunits of five alleles of Daikoku dwarf (d-1), ID-1, DK22, DKT-1, DKT-2, and CM1361–1, showed that these dwarf mutants had mutated in the coding region of the α-subunit gene. These results show that the G protein functions in the formation of normal internodes and seeds in rice. PMID:10377457

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

PubMed

Zhou, Xiaolong; Khan, Sikandar G; Tamura, Deborah; Ueda, Takahiro; Boyle, Jennifer; Compe, Emmanuel; Egly, Jean-Marc; DiGiovanna, John J; Kraemer, Kenneth H

2013-08-01

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental abnormalities without skin cancer, xeroderma pigmentosum (XP), with pigmentary abnormalities and increased skin cancer, or XP/TTD with combined features, including skin cancer. We describe the varied clinical features and mutations in nine patients examined at the National Institutes of Health who were compound heterozygotes for XPD mutations but had different clinical phenotypes: four TTD, three XP, and two combined XP/TTD. We studied TFIIH-dependent transactivation by nuclear receptor for vitamin D (VDR) and thyroid in cells from these patients. The vitamin D stimulation ratio of CYP24 and osteopontin was associated with specific pairs of mutations (reduced in 5, elevated in 1) but not correlated with distinct clinical phenotypes. Thyroid receptor stimulation ratio for KLF9 was not significantly different from normal. XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD.

Nerve fibre layer analysis with GDx with a variable corneal compensator in patients with multiple sclerosis.

PubMed

Della Mea, Giovanni; Bacchetti, Sonia; Zeppieri, Marco; Brusini, Paolo; Cutuli, Daniela; Gigli, Gian Luigi

2007-01-01

To evaluate the ability of GDx with variable corneal compensator (VCC) compared to visual-evoked potentials (VEPs) and standard automated perimetry (SAP) in the detection of early optic nerve damage in patients with multiple sclerosis (MS). 46 eyes of 23 MS patients were included. Ten of them had a history of acute retrobulbar optic neuritis. A control group of 20 normal subjects was also included. All subjects underwent a complete ophthalmological examination and testing with SAP, GDx VCC and VEPs. 19 eyes (41.3%) were abnormal with GDx VCC compared to 38 eyes (82.6%) with SAP and 31 (64.4%) with VEPs. In the optic neuritis group, 9 eyes (69.2%) had optic nerve pallor; SAP was abnormal in 8 of these eyes (61.5%) while VEPs and GDx VCC were abnormal in 6 eyes (46.1%). 2/20 eyes (10.0%) in the control group gave a false-positive abnormal result with SAP. GDx VCC and VEP were normal for all the eyes in the control group. GDx VCC is less able to detect early defects in MS patients compared to the currently used standard techniques of SAP and VEPs. Copyright (c) 2007 S. Karger AG, Basel.

Abnormal pressure in hydrocarbon environments

USGS Publications Warehouse

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

1998-01-01

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

Prostate: techniques, results, and potential applications of color Doppler US scanning.

PubMed

Rifkin, M D; Sudakoff, G S; Alexander, A A

1993-02-01

Color Doppler ultrasound (US) scanning and conventional endorectal gray-scale US of the prostate were performed in 619 patients. Pathologic correlation was available in all cases after US-guided transrectal biopsy. There were 132 cancers in 121 men, 13 foci of atypia in 10 men, 33 foci of inflammation in 31 men, and 469 benign lesions in 457 men. Two hundred seventy patients with abnormal areas of flow identified at color Doppler scanning also underwent spectral waveform analysis of the area of potential concern. No statistical difference in the mean resistive indexes was identified in any patient (P = .25; Scheffe F test, analysis of variance). All malignant lesions had abnormalities demonstrated at gray-scale US and/or focal or diffuse abnormal flow demonstrated at color Doppler scanning. Of the 132 cancers, 123 (93%) had corresponding gray-scale abnormalities and 114 (86%) demonstrated abnormal flow at color Doppler imaging. Nine of the 132 cancers (7%) had no obviously identifiable abnormality at gray-scale scanning but had distinctly abnormal flow at color Doppler scanning. Abnormal findings at color scanning without abnormal findings at gray-scale scanning occurred in eight of the 33 cases of inflammatory foci (24%) and in 24 of the 469 (5%) benign lesions.

Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening.

PubMed

Feuchtbaum, L B; Cunningham, G; Waller, D K; Lustig, L S; Tompkinson, D G; Hook, E B

1995-08-01

To study the chromosome abnormality rate among women with elevated levels of maternal serum alpha-fetoprotein (MSAFP) and the types of chromosome abnormalities in this population, and to compare this rate with reports in the literature and the rate observed in the general population. We studied 8097 women who chose to undergo amniocentesis and fetal karyotyping after having an elevated MSAFP test of 2.5 multiples of the median (MOM) or higher. All abnormal karyotypes were reviewed and grouped according to whether the elevated MSAFP value could be explained by a ventral wall or neural tube defect. The overall chromosome abnormality rate was 13.83 per 1000 amniocenteses. The rate in the "unexplained" group was 10.92 per 1000 amniocenteses. Just over half (53%) of the abnormal karyotypes were autosomal anomalies, and 47% were sex chromosome abnormalities. The autosomal aneuploidies observed most frequently were triploidy and trisomy 13. The sex chromosome abnormalities observed most frequently were the XXY and XYY karyotypes. Women who have unexplained elevated MSAFP values of 2.5 MOM or greater have a twofold increase in the rate of chromosome abnormalities in their fetuses compared with the general population (P < or = .001). This rate is consistent with other studies that used a 2.5 MOM cutoff. Studies that used a 2.0 MOM cutoff have reported chromosome abnormality rates that do not vary from general population estimates.

The incidence and influence of abnormal styloid conditions on the etiology of craniomandibular functional disorders.

PubMed

Krennmair, G; Piehslinger, E

1999-10-01

This study aimed to examine the incidence and influence of craniomandibular functional disorders caused by abnormal styloid-stylohyoid chains. Seven hundred sixty-five patients with temporomandibular joint (TMJ) disorders were divided into two groups (with and without radiographically visible abnormal styloid conditions). In the group with abnormal stylohyoid conditions, the etiology of TMJ disorders was further subdivided into poly-, oligo- and monoetiological factors, and, after this classification, evaluated regarding a clear, possible or unlikely involvement of abnormal stylohyoid conditions in TMJ disorders. One hundred thirty-six out of 765 patients presented abnormal styloid-stylohyoid chains. One hundred five of the patients (77.2%) demonstrated polyetiological causes of TMJ symptoms with an unlikely involvement of the abnormal styloid-stylohyoid chain. Twenty-nine of the patients (21.3%) showed oligoetiological causes with possible involvement of the abnormal styloid-stylohyoid chain. In two patients (1.5%), the abnormal styloid conditions showed up as the only definite cause of TMJ symptoms (monoetiological). Detailed knowledge of variations and possible effects of suprahyoid structures is important for an accurate diagnosis of TMJ disorders. All in all, the incidence of a stylohyoid involvement in TMJ disorders is very low. However, after an initial subdivision into abnormal and normal stylohyoid conditions, the incidence of pathological stylohyoid chains gains significant importance in the etiology of TMJ disorders.

Detecting gait abnormalities after concussion or mild traumatic brain injury: A systematic review of single-task, dual-task, and complex gait.

PubMed

Fino, Peter C; Parrington, Lucy; Pitt, Will; Martini, Douglas N; Chesnutt, James C; Chou, Li-Shan; King, Laurie A

2018-05-01

While a growing number of studies have investigated the effects of concussion or mild traumatic brain injury (mTBI) on gait, many studies use different experimental paradigms and outcome measures. The path for translating experimental studies for objective clinical assessments of gait is unclear. This review asked 2 questions: 1) is gait abnormal after concussion/mTBI, and 2) what gait paradigms (single-task, dual-task, complex gait) detect abnormalities after concussion. Data sources included MEDLINE/PubMed, Scopus, Web of Science, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) accessed on March 14, 2017. Original research articles reporting gait outcomes in people with concussion or mTBI were included. Studies of moderate, severe, or unspecified TBI, and studies without a comparator were excluded. After screening 233 articles, 38 studies were included and assigned to one or more sections based on the protocol and reported outcomes. Twenty-six articles reported single-task simple gait outcomes, 24 reported dual-task simple gait outcomes, 21 reported single-task complex gait outcomes, and 10 reported dual-task complex gait outcomes. Overall, this review provides evidence for two conclusions: 1) gait is abnormal acutely after concussion/mTBI but generally resolves over time; and 2) the inconsistency of findings, small sample sizes, and small number of studies examining homogenous measures at the same time-period post-concussion highlight the need for replication across independent populations and investigators. Future research should concentrate on dual-task and complex gait tasks, as they showed promise for detecting abnormal locomotor function outside of the acute timeframe. Additionally, studies should provide detailed demographic and clinical characteristics to enable more refined comparisons across studies. Copyright © 2018 Elsevier B.V. All rights reserved.

Diagnostic yield of cystoscopy in the evaluation of recurrent urinary tract infection in women.

PubMed

Pagano, Matthew J; Barbalat, Yanina; Theofanides, Marissa C; Edokpolo, Leonard; James, Maxwell B; Cooper, Kimberly L

2017-03-01

Due to a paucity of evidence-based guidelines, anecdotal practice patterns often dictate clinical management of recurrent urinary tract infection (UTI) in women. Our aim was to identify pathologic findings of the urinary tract through cystoscopy and imaging in women with recurrent UTI, and to determine if specific risk factors are associated with a higher rate of abnormal findings. In a single-institutional cohort, cystoscopy was performed for women with recurrent UTI between 1/2010 and 7/2014. All eligible patients were included in a maintained database and those with gross or microscopic hematuria were excluded. Abdominopelvic imaging was recommended and included in study data when completed. Associations between clinical risk factors (history of renal transplant, urogynecologic surgery, or urolithiasis) and abnormal findings were analyzed by Fisher's exact test. A total of 163 women (mean age 60.6 years) were included in final analysis. Abdominopelvic imaging was available in 133 (82%) cases. Cystoscopy identified 9 (5.5%) cases of significant clinical findings. Of these only 5 (3.8%) cases were uniquely identified on cystoscopy and missed on imaging modalities. When imaging was normal, cystoscopy was also normal in 94% of cases. The examined clinical risk factors were not associated with higher risk of abnormal cystoscopy (P = 0.49) or imaging (P = 0.42). Cystoscopy performed solely for recurrent UTI is low yield in patients with normal imaging studies, but a small number of abnormal findings may be missed by foregoing this element of the patient workup. No studied risk factor was predictive of an abnormal workup. Neurourol. Urodynam. 36:692-696, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.

PubMed

Friedland-Little, Joshua M; Hoffmann, Andrew D; Ocbina, Polloneal Jymmiel R; Peterson, Mike A; Bosman, Joshua D; Chen, Yan; Cheng, Steven Y; Anderson, Kathryn V; Moskowitz, Ivan P

2011-10-01

The primary cilium is emerging as a crucial regulator of signaling pathways central to vertebrate development and human disease. We identified atrioventricular canal 1 (avc1), a mouse mutation that caused VACTERL association with hydrocephalus, or VACTERL-H. We showed that avc1 is a hypomorphic mutation of intraflagellar transport protein 172 (Ift172), required for ciliogenesis and Hedgehog (Hh) signaling. Phenotypically, avc1 caused VACTERL-H but not abnormalities in left-right (L-R) axis formation. Avc1 resulted in structural cilia defects, including truncated cilia in vivo and in vitro. We observed a dose-dependent requirement for Ift172 in ciliogenesis using an allelic series generated with Ift172(avc1) and Ift172(wim), an Ift172 null allele: cilia were present on 42% of avc1 mouse embryonic fibroblast (MEF) and 28% of avc1/wim MEFs, in contrast to >90% of wild-type MEFs. Furthermore, quantitative cilium length analysis identified two specific cilium populations in mutant MEFS: a normal population with normal IFT and a truncated population, 50% of normal length, with disrupted IFT. Cells from wild-type embryos had predominantly full-length cilia, avc1 embryos, with Hh signaling abnormalities but not L-R abnormalities, had cilia equally divided between full-length and truncated, and avc1/wim embryos, with both Hh signaling and L-R abnormalities, were primarily truncated. Truncated Ift172 mutant cilia showed defects of the distal ciliary axoneme, including disrupted IFT88 localization and Hh-dependent Gli2 localization. We propose a model in which mutation of Ift172 results in a specific class of abnormal cilia, causing disrupted Hh signaling while maintaining L-R axis determination, and resulting in the VACTERL-H phenotype.

Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes.

PubMed

Solé, Francesc; Luño, Elisa; Sanzo, Carmen; Espinet, Blanca; Sanz, Guillermo F; Cervera, José; Calasanz, María José; Cigudosa, Juan Cruz; Millà, Fuensanta; Ribera, Josep Maria; Bureo, Encarna; Marquez, Maria Luisa; Arranz, Eva; Florensa, Lourdes

2005-09-01

The main prognostic factors in myelodysplastic syndromes (MDS) are chromosomal abnormalities, the proportion of blasts in bone marrow and number and degree of cytopenias. A consensus-defined International Prognostic Scoring System (IPSS) for predicting outcome and planning therapy in MDS has been developed, but its prognostic value in a large and independent series remains unproven. Furthermore, the intermediate-risk cytogenetic subgroup defined by the IPSS includes a miscellaneous number of different single abnormalities of uncertain prognostic significance at present. The main aim of the present study was to identify chromosomal abnormalities with a previously unrecognized good or poor prognosis in order to find new cytogenetic markers with predictive value. We report the cytogenetic findings in a series of 968 patients with primary MDS from the Spanish Cytogenetics Working Group, Grupo Cooperativo Español de Citogenética Hematológica (GCECGH). In this series of 968 MDS patients, we found various cytogenetic aberrations with a new prognostic impact. Complex karyotype, -7/7q- and i(17q) had a poor prognosis; normal karyotype, loss of Y chromosome, deletion 11q, deletion 12p and deletion 20q as single alterations had a good prognosis. Intermediate prognosis aberrations were rearrangements of 3q21q26, trisomy 8, trisomy 9, translocations of 11q and del(17p). Finally, a new group of single or double cytogenetic abnormalities, most of which are considered rare cytogenetic events and are usually included in the intermediate category of the IPSS, showed a trend to poor prognosis. This study suggests that some specific chromosomal abnormalities could be segregated from the IPSS intermediate-risk cytogenetic prognostic subgroup and included in the low risk or in the poor risk groups.

Ocular abnormalities in congenital Zika syndrome: are the ophthalmoscopic findings "the top of the iceberg"?

PubMed

de Oliveira Dias, João Rafael; Ventura, Camila V; de Paula Freitas, Bruno; Prazeres, Juliana; Ventura, Liana O; Bravo-Filho, Vasco; Aleman, Tomas; Ko, Albert Icksang; Zin, Andréa; Belfort, Rubens; Maia, Mauricio

2018-04-23

Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV. Until 2015, ZIKV infection was thought to only cause asymptomatic or mild exanthematous febrile infections. However, after explosive ZIKV outbreaks in Polynesia and Latin American countries, it was confirmed that ZIKV could also lead to Guillain-Barré syndrome and congenital birth abnormalities. These abnormalities, which can include neurologic, ophthalmologic, audiologic, and skeletal findings, are now considered congenital Zika syndrome (CZS). Brain abnormalities in CZS include cerebral calcifications, malformations of cortical development, ventriculomegaly, lissencephaly, hypoplasia of the cerebellum and brainstem. The ocular findings, which are present in up to 70% of infants with CZS, include iris coloboma, lens subluxation, cataract, congenital glaucoma, and especially posterior segment findings. Loss of retinal pigment epithelium, the presence of a thin choroid, a perivascular choroidal inflammatory infiltrate, and atrophic changes within the optic nerve were seen in histologic analyses of eyes from deceased fetuses. To date, there is no ZIKV licensed vaccines or antiviral therapies are available for treatment. Preventive measures include individual protection from mosquito bites, control of mosquito populations and the use of barriers measures such as condoms during sexual intercourse or sexual abstinence for couples either at risk or after confirmed infection. A literature review based on studies that analyzed ocular findings in mothers and infants with CZS, with or without microcephaly, was conducted and a theoretical pathophysiologic explanation for ZIKV-ocular abnormalities was formulated. Copyright © 2018. Published by Elsevier Ltd.

Melanin or a Melanin-Like Substance Interacts with the N-Terminal Portion of Prion Protein and Inhibits Abnormal Prion Protein Formation in Prion-Infected Cells.

PubMed

Hamanaka, Taichi; Nishizawa, Keiko; Sakasegawa, Yuji; Oguma, Ayumi; Teruya, Kenta; Kurahashi, Hiroshi; Hara, Hideyuki; Sakaguchi, Suehiro; Doh-Ura, Katsumi

2017-03-15

Prion diseases are progressive fatal neurodegenerative illnesses caused by the accumulation of transmissible abnormal prion protein (PrP). To find treatments for prion diseases, we searched for substances from natural resources that inhibit abnormal PrP formation in prion-infected cells. We found that high-molecular-weight components from insect cuticle extracts reduced abnormal PrP levels. The chemical nature of these components was consistent with that of melanin. In fact, synthetic melanin produced from tyrosine or 3-hydroxy-l-tyrosine inhibited abnormal PrP formation. Melanin did not modify cellular or cell surface PrP levels, nor did it modify lipid raft or cellular cholesterol levels. Neither did it enhance autophagy or lysosomal function. Melanin was capable of interacting with PrP at two N-terminal domains. Specifically, it strongly interacted with the PrP region of amino acids 23 to 50 including a positively charged amino acid cluster and weakly interacted with the PrP octarepeat peptide region of residues 51 to 90. However, the in vitro and in vivo data were inconsistent with those of prion-infected cells. Abnormal PrP formation in protein misfolding cyclic amplification was not inhibited by melanin. Survival after prion infection was not significantly altered in albino mice or exogenously melanin-injected mice compared with that of control mice. These data suggest that melanin, a main determinant of skin color, is not likely to modify prion disease pathogenesis, even though racial differences in the incidence of human prion diseases have been reported. Thus, the findings identify an interaction between melanin and the N terminus of PrP, but the pathophysiological roles of the PrP-melanin interaction remain unclear. IMPORTANCE The N-terminal region of PrP is reportedly important for neuroprotection, neurotoxicity, and abnormal PrP formation, as this region is bound by many factors, such as metal ions, lipids, nucleic acids, antiprion compounds, and several proteins, including abnormal PrP in prion disease and the Aβ oligomer in Alzheimer's disease. In the present study, melanin, a main determinant of skin color, was newly found to interact with this N-terminal region and inhibits abnormal PrP formation in prion-infected cells. However, the data for prion infection in mice lacking melanin production suggest that melanin is not associated with the prion disease mechanism, although the incidence of prion disease is reportedly much higher in white people than in black people. Thus, the roles of the PrP-melanin interaction remain to be further elucidated, but melanin might be a useful competitive tool for evaluating the functions of other ligands at the N-terminal region. Copyright © 2017 American Society for Microbiology.

Melanin or a Melanin-Like Substance Interacts with the N-Terminal Portion of Prion Protein and Inhibits Abnormal Prion Protein Formation in Prion-Infected Cells

PubMed Central

Hamanaka, Taichi; Nishizawa, Keiko; Sakasegawa, Yuji; Oguma, Ayumi; Teruya, Kenta; Kurahashi, Hiroshi; Hara, Hideyuki; Sakaguchi, Suehiro

2017-01-01

ABSTRACT Prion diseases are progressive fatal neurodegenerative illnesses caused by the accumulation of transmissible abnormal prion protein (PrP). To find treatments for prion diseases, we searched for substances from natural resources that inhibit abnormal PrP formation in prion-infected cells. We found that high-molecular-weight components from insect cuticle extracts reduced abnormal PrP levels. The chemical nature of these components was consistent with that of melanin. In fact, synthetic melanin produced from tyrosine or 3-hydroxy-l-tyrosine inhibited abnormal PrP formation. Melanin did not modify cellular or cell surface PrP levels, nor did it modify lipid raft or cellular cholesterol levels. Neither did it enhance autophagy or lysosomal function. Melanin was capable of interacting with PrP at two N-terminal domains. Specifically, it strongly interacted with the PrP region of amino acids 23 to 50 including a positively charged amino acid cluster and weakly interacted with the PrP octarepeat peptide region of residues 51 to 90. However, the in vitro and in vivo data were inconsistent with those of prion-infected cells. Abnormal PrP formation in protein misfolding cyclic amplification was not inhibited by melanin. Survival after prion infection was not significantly altered in albino mice or exogenously melanin-injected mice compared with that of control mice. These data suggest that melanin, a main determinant of skin color, is not likely to modify prion disease pathogenesis, even though racial differences in the incidence of human prion diseases have been reported. Thus, the findings identify an interaction between melanin and the N terminus of PrP, but the pathophysiological roles of the PrP-melanin interaction remain unclear. IMPORTANCE The N-terminal region of PrP is reportedly important for neuroprotection, neurotoxicity, and abnormal PrP formation, as this region is bound by many factors, such as metal ions, lipids, nucleic acids, antiprion compounds, and several proteins, including abnormal PrP in prion disease and the Aβ oligomer in Alzheimer's disease. In the present study, melanin, a main determinant of skin color, was newly found to interact with this N-terminal region and inhibits abnormal PrP formation in prion-infected cells. However, the data for prion infection in mice lacking melanin production suggest that melanin is not associated with the prion disease mechanism, although the incidence of prion disease is reportedly much higher in white people than in black people. Thus, the roles of the PrP-melanin interaction remain to be further elucidated, but melanin might be a useful competitive tool for evaluating the functions of other ligands at the N-terminal region. PMID:28077650

Pygmoid Australomelanesian Homo sapiens skeletal remains from Liang Bua, Flores: population affinities and pathological abnormalities.

PubMed

Jacob, T; Indriati, E; Soejono, R P; Hsü, K; Frayer, D W; Eckhardt, R B; Kuperavage, A J; Thorne, A; Henneberg, M

2006-09-05

Liang Bua 1 (LB1) exhibits marked craniofacial and postcranial asymmetries and other indicators of abnormal growth and development. Anomalies aside, 140 cranial features place LB1 within modern human ranges of variation, resembling Australomelanesian populations. Mandibular and dental features of LB1 and LB6/1 either show no substantial deviation from modern Homo sapiens or share features (receding chins and rotated premolars) with Rampasasa pygmies now living near Liang Bua Cave. We propose that LB1 is drawn from an earlier pygmy H. sapiens population but individually shows signs of a developmental abnormality, including microcephaly. Additional mandibular and postcranial remains from the site share small body size but not microcephaly.

Management of Abnormal Uterine Bleeding with Emphasis on Alternatives to Hysterectomy.

PubMed

Billow, Megan R; El-Nashar, Sherif A

2016-09-01

Abnormal uterine bleeding (AUB) is a common problem that negatively impacts a woman's health-related quality of life and activity. Initial medical treatment includes hormonal and nonhormonal medications. If bleeding persists and no structural abnormalities are present, a repeat trial of medical therapy, a levonorgestrel intrauterine system, or an endometrial ablation can be used dependent on future fertility wishes. The levonorgestrel intrauterine system and endometrial ablation are effective, less invasive, and safe alternatives to a hysterectomy in women with AUB. A hysterectomy is the definitive treatment of AUB irrespective of the suspected cause when alternative treatments fail. Future studies should focus on detection of predictors for treatment outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

Liraglutide as a potentially useful agent for regulating appetite in diabetic patients with hypothalamic hyperphagia and obesity.

PubMed

Ando, Takao; Haraguchi, Ai; Matsunaga, Tomoe; Natsuda, Shoko; Yamasaki, Hironori; Usa, Toshiro; Kawakami, Atsushi

2014-01-01

Hypothalamic hyperphagia and obesity are characterized by a lack of satiety and an abnormally high appetite that is difficult to control. We herein report the cases of two patients with hypothalamic hyperphagia and obesity with MRI-detectable hypothalamic lesions. These patients suffered from diabetes mellitus associated with an abnormal eating behavior and weight gain. Liraglutide was successfully used to treat their diabetes mellitus and suppress their abnormal appetites. Glucagon-like peptide-1 analogues, including liraglutide, are promising treatment options in patients with hypothalamic hyperphagia and obesity, as these agents enhance the hypothalamic input of the satiety signal, which is lacking in such patients.

Stress--the battle for hearts and minds: links between depression, stress and ischemic heart disease.

PubMed

Korszun, Ania; Frenneaux, Michael P

2006-09-01

Depression and ischemic heart disease (IHD) are strongly related common disorders. Depression itself is an independent cardiac risk factor and is associated with a two- to threefold increase in IHD mortality. Attention has now shifted to identifying the common underlying mechanisms that could make individuals susceptible to both disorders. Abnormalities that have been implicated in this relationship include abnormal platelet activation, decreased baroreceptor sensitivity and endothelial dysfunction. Depression and IHD both have a high association with environmental stress, and depression is characterized by abnormalities of the stress-hormone axis. This review provides a brief overview of some recent developments in our understanding of the pathophysiological links between stress, depression and IHD.

HIV and antiretroviral therapy: lipid abnormalities and associated cardiovascular risk in HIV-infected patients.

PubMed

Kotler, Donald P

2008-09-01

It has been demonstrated that patients on highly active antiretroviral therapy are at increased risk for developing metabolic abnormalities that include elevated levels of serum triglycerides and low-density lipoprotein cholesterol and reduced levels of high-density lipoprotein cholesterol. This dyslipidemia is similar to that seen in the metabolic syndrome, raising the concern that highly active antiretroviral therapy also potentially increases the risk for cardiovascular complications. This paper reviews the contribution of both HIV infection and the different components of highly active antiretroviral therapy to dyslipidemia and the role of these abnormalities toward increasing the risk of cardiovascular disease in HIV-infected patients; therapeutic strategies to manage these risks are also considered.

Fetal heart rate abnormalities during and after external cephalic version: Which fetuses are at risk and how are they delivered?

PubMed

Kuppens, Simone M; Smailbegovic, Ida; Houterman, Saskia; de Leeuw, Ingrid; Hasaart, Tom H

2017-10-17

Fetal heart rate abnormalities (FHR) during and after external cephalic version (ECV) are relatively frequent. They may raise concern about fetal wellbeing. Only occasionally they may lead to an emergency cesarean section. Prospective cohort study in 980 women (> 34 weeks gestation) with a singleton fetus in breech presentation. During and after external cephalic version (ECV) FHR abnormalities were recorded. Obstetric variables and delivery outcome were evaluated. Primary outcome was to identify which fetuses are at risk for FHR abnormalities. Secondary outcome was to identify a possible relationship between FHR abnormalities during and after ECV and mode of delivery and fetal distress during subsequent labor. The overall success rate of ECV was 60% and in 9% of the attempts there was an abnormal FHR pattern. In two cases FHR abnormalities after ECV led to an emergency CS. Estimated fetal weight per 100 g (OR 0.90, CI: 0.87-0.94) and longer duration of the ECV-procedure (OR 1.13, CI: 1.05-1.21) were factors significantly associated with the occurrence of FHR abnormalities. FHR abnormalities were not associated with the mode of delivery or the occurrence of fetal distress during subsequent labor. FHR abnormalities during and after ECV are more frequent with lower estimated fetal weight and longer duration of the procedure. FHR abnormalities during and after ECV have no consequences for subsequent mode of delivery. They do not predict whether fetal distress will occur during labor. The Eindhoven Breech Intervention Study, NCT00516555 . Date of registration: August 13, 2007.

Screening Criteria for Ophthalmic Manifestations of Congenital Zika Virus Infection.

PubMed

Zin, Andrea A; Tsui, Irena; Rossetto, Julia; Vasconcelos, Zilton; Adachi, Kristina; Valderramos, Stephanie; Halai, Umme-Aiman; Pone, Marcos Vinicius da Silva; Pone, Sheila Moura; Silveira Filho, Joel Carlos Barros; Aibe, Mitsue S; da Costa, Ana Carolina C; Zin, Olivia A; Belfort, Rubens; Brasil, Patricia; Nielsen-Saines, Karin; Moreira, Maria Elisabeth Lopes

2017-09-01

Current guidelines recommend screening eye examinations for infants with microcephaly or laboratory-confirmed Zika virus infection but not for all infants potentially exposed to Zika virus in utero. To evaluate eye findings in a cohort of infants whose mothers had polymerase chain reaction-confirmed Zika virus infection during pregnancy. In this descriptive case series performed from January 2 through October 30, 2016, infants were examined from birth to 1 year of age by a multidisciplinary medical team, including a pediatric ophthalmologist, from Fernandes Figueira Institute, a Ministry of Health referral center for high-risk pregnancies and infectious diseases in children in Rio de Janeiro, Brazil. Mother-infant pairs from Rio de Janeiro, Brazil, who presented with suspected Zika virus infection during pregnancy were referred to our institution and had serum, urine, amniotic fluid, or placenta samples tested by real-time polymerase chain reaction for Zika virus. Description of eye findings, presence of microcephaly or other central nervous system abnormalities, and timing of infection in infants with confirmed Zika virus during pregnancy. Eye abnormalities were correlated with central nervous system findings, microcephaly, and the timing of maternal infection. Of the 112 with polymerase chain reaction-confirmed Zika virus infection in maternal specimens, 24 infants (21.4%) examined had eye abnormalities (median age at first eye examination, 31 days; range, 0-305 days). Ten infants (41.7%) with eye abnormalities did not have microcephaly, and 8 (33.3%) did not have any central nervous system findings. Fourteen infants with eye abnormalities (58.3%) were born to women infected in the first trimester, 8 (33.3%) in the second trimester, and 2 (8.3%) in the third trimester. Optic nerve and retinal abnormalities were the most frequent findings. Eye abnormalities were statistically associated with microcephaly (odds ratio [OR], 19.1; 95% CI, 6.0-61.0), other central nervous system abnormalities (OR, 4.3; 95% CI, 1.6-11.2), arthrogryposis (OR, 29.0; 95% CI, 3.3-255.8), and maternal trimester of infection (first trimester OR, 5.1; 95% CI, 1.9-13.2; second trimester OR, 0.5; 95% CI, 0.2-1.2; and third trimester OR, 0.3; 95% CI, 0.1-1.2). Eye abnormalities may be the only initial finding in congenital Zika virus infection. All infants with potential maternal Zika virus exposure at any time during pregnancy should undergo screening eye examinations regardless of the presence or absence of central nervous system abnormalities.

Abnormal Behavior in Relation to Cage Size in Rhesus Monkeys

ERIC Educational Resources Information Center

Paulk, H. H.; And Others

1977-01-01

Examines the effects of cage size on stereotyped and normal locomotion and on other abnormal behaviors in singly caged animals, whether observed abnormal behaviors tend to co-occur, and if the development of an abnormal behavior repertoire leads to reduction in the number of normal behavior categories. (Author/RK)

Five-year speech and language outcomes in children with cleft lip-palate.

PubMed

Prathanee, Benjamas; Pumnum, Tawitree; Seepuaham, Cholada; Jaiyong, Pechcharat

2016-10-01

To investigate 5-year speech and language outcomes in children with cleft lip/palate (CLP). Thirty-eight children aged 4-7 years and 8 months were recruited for this study. Speech abilities including articulation, resonance, voice, and intelligibility were assessed based on Thai Universal Parameters of Speech Outcomes. Language ability was assessed by the Language Screening Test. The findings revealed that children with clefts had speech and language delay, abnormal understandability, resonance abnormality, and voice disturbance; articulation defects that were 8.33 (1.75, 22.47), 50.00 (32.92, 67.08), 36.11 (20.82, 53.78), 30.56 (16.35, 48.11), and 94.44 (81.34, 99.32). Articulation errors were the most common speech and language defects in children with clefts, followed by abnormal understandability, resonance abnormality, and voice disturbance. These results should be of critical concern. Protocol reviewing and early intervention programs are needed for improved speech outcomes. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Effects of resocialization on post-weaning social isolation-induced abnormal aggression and social deficits in rats.

PubMed

Tulogdi, Aron; Tóth, Máté; Barsvári, Beáta; Biró, László; Mikics, Eva; Haller, József

2014-01-01

As previously shown, rats isolated from weaning develop abnormal social and aggressive behavior characterized by biting attacks targeting vulnerable body parts of opponents, reduced attack signaling, and increased defensive behavior despite increased attack counts. Here we studied whether this form of violent aggression could be reversed by resocialization in adulthood. During the first weak of resocialization, isolation-reared rats showed multiple social deficits including increased defensiveness and decreased huddling during sleep. Deficits were markedly attenuated in the second and third weeks. Despite improved social functioning in groups, isolated rats readily showed abnormal features of aggression in a resident-intruder test performed after the 3-week-long resocialization. Thus, post-weaning social isolation-induced deficits in prosocial behavior were eliminated by resocialization during adulthood, but abnormal aggression was resilient to this treatment. Findings are compared to those obtained in humans who suffered early social maltreatment, and who also show social deficits and dysfunctional aggression in adulthood. © 2013 Wiley Periodicals, Inc.

An Electrophysiological Investigation of Emotional Abnormalities in Groups at Risk for Schizophrenia-Spectrum Personality Disorders

PubMed Central

Martin, Elizabeth A.; Karcher, Nicole R.; Bartholow, Bruce D.; Siegle, Greg J.; Kerns, John G.

2017-01-01

Both extreme levels of social anhedonia (SocAnh) and perceptual aberration/magical ideation (PerMag) are associated with risk for schizophrenia-spectrum disorders and with emotional abnormalities. Yet, the nature of any psychophysiological-measured affective abnormality, including the role of automatic/controlled processes, is unclear. We examined the late positive potential (LPP) during passive viewing (to assess automatic processing) and during cognitive reappraisal (to assess controlled processing) in three groups: SocAnh, PerMag, and controls. The SocAnh group exhibited an increased LPP when viewing negative images. Further, SocAnh exhibited greater reductions in the LPP for negative images when told to use strategies to alter negative emotion. Similar to SocAnh, PerMag exhibited an increased LPP when viewing negative images. However, PerMag also exhibited an increased LPP when viewing positive images as well as an atypical decreased LPP when increasing positive emotion. Overall, these results suggest that at-risk groups are associated with shared and unique automatic and controlled abnormalities. PMID:28174121

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

PubMed

van Rappard, Diane F; Bugiani, Marianna; Boelens, Jaap J; van der Steeg, Alida F W; Daams, Freek; de Meij, Tim G J; van Doorn, Martine M A C; van Hasselt, Peter M; Gouma, Dirk J; Verbeke, Jonathan I M L; Hollak, Carla E M; van Hecke, Wim; Salomons, Gajja S; van der Knaap, Marjo S; Wolf, Nicole I

2016-07-05

To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD). We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed. Only 8 of 34 patients (23%) had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 patients (23%). Cholecystectomy was performed in 11 patients (32%). In these, pathology revealed various abnormalities, including hyperplastic polyps, intestinal metaplasia, prominent Rokitansky-Aschoff sinuses, and sulfatide storage. Our results demonstrate that gallbladder involvement is the rule rather than the exception in MLD. The high prevalence of hyperplastic polyps, a known precancerous condition, and one death from gallbladder carcinoma at a young age suggest that MLD predisposes to neoplastic gallbladder abnormalities. As novel therapies for this patient group are emerging leading to increased life expectancy, we recommend screening for gallbladder abnormalities by ultrasound in order to prevent early death. © 2016 American Academy of Neurology.

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

Eskenazi, B.; Kimmel, G.

This summary report focuses on current studies on reproductive effects reported at the workshop on Perinatal Exposure to Dioxin-like Compounds and supporting data noted in the discussion. Recent laboratory studies have suggested that altered development (e.g., low birth weight, spontaneous abortion, congenital malformation) and reproductive health (e.g., fertility, sex organ development, reproductive behavior) may be among the most sensitive end points when examining the effects of dioxin-like compounds. Thus, future research should target the reproductive health of both males and females exposed postnatally and prenatally. Studies in humans are needed and are on-going. In animal models, postnatal exposure to dioxinmore » or dioxinlike compounds has been associated with abnormal spermatogenesis and abnormal testicular morphology and size in males and with reduced fertility and endometriosis in females. In utero exposure may also produce profound reproductive consequences in both males and females including delays in sexual maturation, abnormalities in development of sexual organs, and abnormal sexual behavior. The mechanism by which dioxin-like compounds cause reproductive effects is not well delineated. 13 refs.« less

Craniofacial bone abnormalities and malocclusion in individuals with sickle cell anemia: a critical review of the literature

PubMed Central

Costa, Cyrene Piazera Silva; de Carvalho, Halinna Larissa Cruz Correia; Thomaz, Erika Bárbara Abreu Fonseca; Sousa, Soraia de Fátima Carvalho

2012-01-01

This study aims to critically review the literature in respect to craniofacial bone abnormalities and malocclusion in sickle cell anemia individuals. The Bireme and Pubmed electronic databases were searched using the following keywords: malocclusion, maxillofacial abnormalities, and Angle Class I, Class II and lass III malocclusions combined with sickle cell anemia. The search was limited to publications in English, Spanish or Portuguese with review articles and clinical cases being excluded from this study. Ten scientific publications were identified, of which three were not included as they were review articles. There was a consistent observation of orthodontic and orthopedic variations associated with sickle cell anemia, especially maxillary protrusions. However, convenience sampling, sometimes without any control group, and the lack of estimates of association and hypotheses testing undermined the possibility of causal inferences. It was concluded that despite the high frequency of craniofacial bone abnormalities and malocclusion among patients with sickle cell anemia, there is insufficient scientific proof that this disease causes malocclusion PMID:23049386

Haematological features in children less than 12 years on cotrimoxazole prophylaxis seen in opportunistic infection clinics at Harare and Parirenyatwa Teaching Hospitals.

PubMed

Mateveke-Kuona, P; Bwakura, M F; Dzangare, J; Pazvakavambwa, I

2010-01-01

To determine the prevalence of peripheral haematological abnormalities in children receiving cotrimoxazole prophylaxis. An outpatient hospital based cross sectional study. The study was conducted at two tertiary peadiatric HIV clinics that offer comprehensive care to children living with HIV. 202 HIV infected, antiretroviral therapy naive children aged between 3 months and 12 years who were receiving cotrimoxazole prophylaxis for at least 1 month with more than95% adherence to prophylaxis were included. Haematological abnormalities on full blood count and peripheral film. The prevalence of anaemia was 62% with normocytic normochromic anaemia being the most frequent type (45%). The commonest red blood cell abnormality was rouleaux formation on the peripheral film. Monocytosis occurred in 62%, leucopaenia in 39%, eosinophilia in 34%, neutropaenia in 18% and lymphopaenia in 10% of the children. This study showed a high prevalence ofhaematological abnormalities in HIV infected children on cotrimoxazole prophylaxis. It emphasizes the need for evaluation for anaemia and its management in children on cotrimoxazole prophylaxis.

Defining the Role of Solid Stress and Matrix Stiffness in Cancer Cell Proliferation and Metastasis

PubMed Central

Kalli, Maria; Stylianopoulos, Triantafyllos

2018-01-01

Solid tumors are characterized by an abnormal stroma that contributes to the development of biomechanical abnormalities in the tumor microenvironment. In particular, these abnormalities include an increase in matrix stiffness and an accumulation of solid stress in the tumor interior. So far, it is not clearly defined whether matrix stiffness and solid stress are strongly related to each other or they have distinct roles in tumor progression. Moreover, while the effects of stiffness on tumor progression are extensively studied compared to the contribution of solid stress, it is important to ascertain the biological outcomes of both abnormalities in tumorigenesis and metastasis. In this review, we discuss how each of these parameters is evolved during tumor growth and how these parameters are influenced by each other. We further review the effects of matrix stiffness and solid stress on the proliferative and metastatic potential of cancer and stromal cells and summarize the in vitro experimental setups that have been designed to study the individual contribution of these parameters. PMID:29594037

MRI abnormalities of peripheral nerve and muscle are common in amyotrophic lateral sclerosis and share features with multifocal motor neuropathy

PubMed Central

Staff, Nathan P.; Amrami, Kimberly K.; Howe, Benjamin M.

2015-01-01

Introduction MRI of peripheral nerve and muscle in patients with ALS may be performed to investigate alternative diagnoses including multifocal motor neuropathy (MMN). MRI findings of peripheral nerve and muscle are not well described in these conditions, making interpretation of results difficult. Methods We examined systematically the peripheral nerve and muscle MRI findings in patients with ALS (n=60) and MMN (n=8). Results In patients with ALS and MMN, abnormal MRIs were common (85% and 75%, respectively) but did not correlate with disease severity. Peripheral nerve MRI abnormalities were similar in frequency (ALS: 58% vs. MMN: 63%) with most changes being of mild-to-moderate severity. Muscle MRI changes were more common in ALS (57% vs. 33%), and no muscle atrophy was seen in patients with MMN. Discussion MRI abnormalities of peripheral nerve and muscle in ALS and MMN are common and share some features. PMID:25736373

Solitary tuberculous brain lesions: 24 new cases and a review of the literature.

PubMed

Psimaras, D; Bonnet, C; Heinzmann, A; Cárdenas, G; Hernández José Luis, S; Tungaria, A; Behari, S; Lacrois, D; Mokhtari, K; Karantoni, E; Sokrab Tag, E; Idris Mohamed, N; Sönmez, G; Caumes, E; Roze, E

2014-01-01

A solitary tuberculous brain lesion (STBL) can be difficult to distinguish from a glioma, metastasis or other infectious disease, especially from a pyogenic brain abscess. We analyzed the clinical characteristics, diagnostic procedures and outcomes of 24 patients with STBL diagnosed in three centers from France, India and Mexico. We also reviewed 92 STBL cases previously reported in the literature. General symptoms were found in 54% of our patients, including enlarged lymph nodes in 20%. Cerebrospinal fluid was typically abnormal, with lymphocytic pleocytosis and a high protein level. The lung CT scan was abnormal in 56% of patients, showing lymphadenopathy or pachipleuritis. Brain MRI or CT was always abnormal, showing contrast-enhanced lesions. Typically, MRI abnormalities were hypointense on T1-weighted sequences, while T2-weighted sequences showed both a peripheral hypersignal and a central hyposignal. The diagnosis was documented microbiologically or supported histologically in 71% of cases. Clinical outcome was good in 83% of cases. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Causes and Diagnosis of Abnormal Vaginal Bleeding.

PubMed

Sokol, Elizabeth; Peddinti, Radhika

2015-07-01

Abnormal vaginal bleeding in a postmenarchal adolescent patient is most often related to dysfunctional uterine bleeding. However, there are other potential etiologies, including hematologic disorders, infections, and oncologic problems. We present a 12-year-old girl who presented with prolonged vaginal bleeding and was ultimately diagnosed with rhabdomyosarcoma. In this article, we discuss the approach to a patient with vaginal bleeding along with a more in-depth review of risk stratification in rhabdomyosarcoma, including treatment options such as chemotherapy, surgery, and radiation therapy. Copyright 2015, SLACK Incorporated.

Molecular diagnostics in the neoplasms of the pancreas, liver, gall bladder, and extrahepatic biliary tract.

PubMed

Weindel, Michael; Zulfiqar, Muhammad; Bhalla, Amarpreet; Shidham, Vinod B

2013-12-01

Pancreatic neoplasms, including ductal adenocarcinoma, intraductal papillary mucinous neoplasm, solid pseudopapillary neoplasm, pancreatic endocrine neoplasms, acinar cell carcinoma, and ampullary carcinoma, are associated with different genetic abnormalities. Liver neoplasms, including hepatic adenomas, hepatocellular carcinomas, and cholangiocarcinomas, are associated with identifiable risk factors and genetic changes. Gall bladder adenomas and adenocarcinomas arise from distinct molecular pathways. The molecular abnormalities seen in these tumors are not used routinely in the molecular diagnostic laboratory. Copyright © 2013 Elsevier Inc. All rights reserved.

Foot abnormalities of wild birds

USGS Publications Warehouse

Herman, C.M.; Locke, L.N.; Clark, G.M.

1962-01-01

The various foot abnormalities that occur in birds, including pox, scaly-leg, bumble-foot, ergotism and freezing are reviewed. In addition, our findings at the Patuxent Wildlife Research Center include pox from dove, mockingbird, cowbird, grackle and several species of sparrows. Scaly-leg has been particularly prevalent on icterids. Bumble foot has been observed in a whistling swan and in a group of captive woodcock. Ergotism is reported from a series of captive Canada geese from North Dakota. Several drug treatments recommended by others are presented.

The prevalence of intraspinal anomalies in infantile and juvenile patients with "presumed idiopathic" scoliosis: a MRI-based analysis of 504 patients.

PubMed

Zhang, Wen; Sha, Shifu; Xu, Leilei; Liu, Zhen; Qiu, Yong; Zhu, Zezhang

2016-04-27

Though several studies have reported the incidence of intraspinal neural axis abnormalities in infantile and juvenile "presumed idiopathic" scoliosis, there has been a varying prevalence ranging from 11.1 to 26.0% based on a limited sample size. Therefore, such inconclusive findings have resulted in some questions on the MRI-associated role in the management of these patients. We aimed to investigate the prevalence and distribution of intraspinal anomalies in the infantile and juvenile patients with "presumed idiopathic" scoliosis and to explore the radiographic and clinical indicators with large sample size. A total of 504 infantile and juvenile patients diagnosed with "presumed idiopathic" scoliosis were examined for potentially-existing neural axis abnormalities by MRI. Patients were grouped into two cohorts according to the presence of neural axis abnormalities. Radiographic parameters including curve magnitude, curve pattern, location of apex, degree of thoracic kyphosis, and span of curve were recorded and compared between the two groups. The prevalence of the neural abnormalities between the infantile-age group and juvenile-age group was also compared. The student t test was used to evaluate the differences of continuous variables and the chi-square test was used to evaluate the difference of categorical variables. Fisher exact test was applied to detect the difference of the rate of intraspinal anomalies between the "infantile idiopathic scoliosis" and "juvenile idiopathic scoliosis" group. Involving the spinal cord, 94 patients (18.7%) were found to have a neural abnormality: Arnold-Chiari malformation alone in 43 patients, Arnold-Chiari malformation combined with syringomyelia in 18 patients, isolated syringomyelia in 13 patients, diastematomyelia in six patients, tethered cord combined with diastematomyelia in six patients, tethered cord alone in four patients, and other uncommon intraspinal abnormalities in the remaining four patients. Totally Arnold-Chiari malformation with or without syringomyelia accounted for 64.8% (61/94) among all these abnormalities. Male gender, left thoracic curve and right lumbar curve were found to be significantly associated with the presence of neural axis abnormalities on MRI. The incidence of neural axis abnormalities in the presumed IIS and JIS was 18.7%. Thus a routine MRI evaluation appears warranted for those "presumed idiopathic" scoliosis patients if aged less than 10 years, being male or having left thoracic or right lumbar curve.

Ocular screening tests of elementary school children

NASA Technical Reports Server (NTRS)

Richardson, J.

1983-01-01

This report presents an analysis of 507 abnormal retinal reflex images taken of Huntsville kindergarten and first grade students. The retinal reflex images were obtained by using an MSFC-developed Generated Retinal Reflex Image System (GRRIS) photorefractor. The system uses a 35 mm camera with a telephoto lens with an electronic flash attachment. Slide images of the eyes were examined for abnormalities. Of a total of 1835 students screened for ocular abnormalities, 507 were found to have abnormal retinal reflexes. The types of ocular abnormalities detected were hyperopia, myopia, astigmatism, esotropia, exotropia, strabismus, and lens obstuctions. The report shows that the use of the photorefractor screening system is an effective low-cost means of screening school children for abnormalities.

Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction

PubMed Central

Chen, Michael L.; Logan, T. Daniel; Hochberg, Maryann L.; Shelat, Suresh G.; Yu, Xiang; Wilding, Gregory E.; Tan, Wei; Kujoth, Gregory C.; Prolla, Tomas A.; Selak, Mary A.; Kundu, Mondira; Carroll, Martin

2009-01-01

Recent reports describe hematopoietic abnormalities in mice with targeted instability of the mitochondrial genome. However, these abnormalities have not been fully described. We demonstrate that mutant animals develop an age-dependent, macrocytic anemia with abnormal erythroid maturation and megaloblastic changes, as well as profound defects in lymphopoiesis. Mice die of severe fatal anemia at 15 months of age. Bone-marrow transplantation studies demonstrate that these abnormalities are intrinsic to the hematopoietic compartment and dependent upon the age of donor hematopoietic stem cells. These abnormalities are phenotypically similar to those found in patients with refractory anemia, suggesting that, in some cases, the myelodysplastic syndromes are caused by abnormalities of mitochondrial function. PMID:19734452

Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI.

PubMed

Amir, Tali; Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

2016-01-01

Fetal ventriculomegaly is a common and frequently leading neuroimaging finding in complex brain malformations. Here we report on pre- and postnatal neuroimaging findings in three fetuses with prenatal ventriculomegaly and brainstem kinking. We aim to identify key neuroimaging features that may allow the prenatal differentiation between diseases associated with fetal ventriculomegaly and brainstem kinking. All pre- and postnatal magnetic resonance imaging (MRI) data were qualitatively evaluated for infra- and supratentorial abnormalities. Data about clinical features and genetic findings were collected from clinical histories. In all three patients, fetal MRI showed ventriculomegaly and brainstem kinking. In two patients, postnatal MRI also showed supratentorial migration abnormalities and eye abnormalities were found. In these children, the diagnosis of α-dystroglycanopathy was genetically confirmed. In the third patient, basal ganglia had an abnormal shape on MRI suggesting a tubulinopathy. The differential diagnosis of prenatal ventriculomegaly and brainstem kinking includes α-dystroglycanopathies, X-linked hydrocephalus due to mutations in L1CAM, and tubulinopathies. The prenatal differentiation between these diseases may be difficult. The presence of ocular abnormalities on prenatal neuroimaging may favor α-dystroglycanopathies, while dysplastic basal ganglia may suggest a tubulinopathy. However, in some patients the final differentiation between these diseases is possible only postnatally. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Amygdala abnormalities in first-degree relatives of individuals with schizophrenia unmasked by benzodiazepine challenge

PubMed Central

Wolf, Daniel H.; Satterthwaite, Theodore D.; Loughead, James; Pinkham, Amy; Overton, Eve; Elliott, Mark A.; Dent, Gersham W.; Smith, Mark A.; Gur, Ruben C.; Gur, Raquel E.

2014-01-01

Rationale Impaired emotion processing in schizophrenia predicts broader social dysfunction and has been related to negative symptom severity and amygdala dysfunction. Pharmacological modulation of emotion-processing deficits and related neural abnormalities may provide useful phenotypes for pathophysiological investigation. Objectives We used an acute benzodiazepine challenge to identify and modulate potential emotion-processing abnormalities in 20 unaffected first-degree relatives of individuals with schizophrenia, compared to 25 control subjects without a family history of psychosis. Methods An oral 1mg dose of the short-acting anxiolytic benzodiazepine alprazolam was administered in a balanced crossover placebo-controlled double-blind design, preceding identical 3T fMRI sessions approximately 1 week apart. Primary outcomes included fMRI activity in amygdala and related regions during two facial emotion-processing tasks: emotion identification and emotion memory. Results Family members exhibited abnormally strong alprazolam-induced reduction in amygdala and hippocampus activation during emotion identification, compared to equal reduction in both groups for the emotion memory task. Conclusions GABAergic modulation with alprazolam produced differential responses in family members vs. controls, perhaps by unmasking underlying amygdalar and/or GABAergic abnormalities. Such pharmacological fMRI paradigms could prove useful for developing drugs targeting specific neural circuits to treat or prevent schizophrenia. PMID:21603892

MRI or not to MRI! Should brain MRI be a routine investigation in children with autistic spectrum disorders?

PubMed

Zeglam, Adel M; Al-Ogab, Marwa F; Al-Shaftery, Thouraya

2015-09-01

To evaluate the routine usage of Magnetic Resonance Imaging (MRI) of brain and estimate the prevalence of brain abnormalities in children presenting to the Neurodevelopment Clinic of Al-Khadra Hospital (NDC-KH), Tripoli, Libya with autistic spectrum disorders (ASD). The records of all children with ASD presented to NDC-KH over 4-year period (from January 2009 to December 2012) were reviewed. All MRIs were acquired with a 1.5-T Philips (3-D T1, T2, FLAIR coronal and axial sequences). MRIs were reported to be normal, abnormal or no significant abnormalities by a consultant neuroradiologist. One thousand and seventy-five children were included in the study. Seven hundred and eighty-two children (72.7 %) had an MRI brain of whom 555 (71 %) were boys. 26 children (24 males and 2 females) (3.3 %) demonstrated MRI abnormalities (8 leukodystrophic changes, 4 periventricular leukomalacia, 3 brain atrophy, 2 tuberous sclerosis, 2 vascular changes, 1 pineoblastoma, 1 cerebellar angioma, 1 cerebellar hypoplasia, 3 agenesis of corpus callosum, 1 neuro-epithelial cyst). An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in children with autism. These results could contribute to further research into the pathogenesis of autistic spectrum disorder.

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

PubMed

Rasheed, Madiha; Shahzad, Shaheen; Zaeem, Afifa; Afzal, Imran; Gul, Asma; Khalid, Sumbal

2017-12-01

Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.

Embodied experiences of prenatal diagnosis of fetal abnormality and pregnancy termination.

PubMed

Pitt, Penelope; McClaren, Belinda J; Hodgson, Jan

2016-05-01

Pregnant women routinely undergo prenatal screening in Australia and this has become a common experience of motherhood. When prenatal screening or prenatal testing results in diagnosis of a serious fetal abnormality, women are presented with a decision to continue or terminate their pregnancy. Few recent studies have explored women's psychosocial experience of prenatal diagnosis and pregnancy termination for fetal abnormality, and within this small group of studies it is rare for research to consider the embodied aspect of women's experiences. This paper reports on qualitative findings from in-depth interviews with 59 women in Melbourne, Australia who received a prenatal diagnosis of a significant abnormality and decided to terminate the pregnancy. Interview transcripts were coded inductively through thematic analysis. Two themes about embodiment were generated from the interviews: transitioning embodiment, and vulnerable bodies in un/comfortable spaces. Theory of pregnant embodiment was drawn on in interpreting women's narratives. Recommendations arising from the analysis include health professionals recognising, acknowledging and accommodating the transitioning embodied state of women as they consider, prepare for, undergo and recover from pregnancy termination for fetal abnormality. Further recommendations address the connections and disconnections between this transitioning embodied state and the spaces of clinics, hospitals and home. Copyright © 2016 Elsevier Inc. All rights reserved.

Validation of a condition-specific measure for women having an abnormal screening mammography.

PubMed

Brodersen, John; Thorsen, Hanne; Kreiner, Svend

2007-01-01

The aim of this study is to assess the validity of a new condition-specific instrument measuring psychosocial consequences of abnormal screening mammography (PCQ-DK33). The draft version of the PCQ-DK33 was completed on two occasions by 184 women who had received an abnormal screening mammography and on one occasion by 240 women who had received a normal screening result. Item Response Theories and Classical Test Theories were used to analyze data. Construct validity, concurrent validity, known group validity, objectivity and reliability were established by item analysis examining the fit between item responses and Rasch models. Six dimensions covering anxiety, behavioral impact, sense of dejection, impact on sleep, breast examination, and sexuality were identified. One item belonging to the dejection dimension had uniform differential item functioning. Two items not fitting the Rasch models were retained because of high face validity. A sick leave item added useful information when measuring side effects and socioeconomic consequences of breast cancer screening. Five "poor items" were identified and should be deleted from the final instrument. Preliminary evidence for a valid and reliable condition-specific measure for women having an abnormal screening mammography was established. The measure includes 27 "good" items measuring different attributes of the same overall latent structure-the psychosocial consequences of abnormal screening mammography.

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature.

PubMed

Jeon, Kwon Chan; Chen, Lei-Shih; Goodson, Patricia

2012-01-01

We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents' age, providers' genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents' fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents' socioeconomic status and ethnicity. The studies' average methodological quality score was 10.6 (SD = 1.67; range, 8-14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions.

Effect of Time-Dependent Pinning Pressure on Abnormal Grain Growth: Phase Field Simulation

NASA Astrophysics Data System (ADS)

Kim, Jeong Min; Min, Guensik; Shim, Jae-Hyeok; Lee, Kyung Jong

2018-05-01

The effect of the time-dependent pinning pressure of precipitates on abnormal grain growth has been investigated by multiphase field simulation with a simple precipitation model. The application of constant pinning pressure is problematic because it always induces abnormal grain growth or no grain growth, which is not reasonable considering the real situation. To produce time-dependent pinning pressure, both precipitation kinetics and precipitate coarsening kinetics have been considered with two rates: slow and fast. The results show that abnormal grain growth is suppressed at the slow precipitation rate. At the slow precipitation rate, the overall grain growth caused by the low pinning pressure in the early stage indeed plays a role in preventing abnormal grain growth by reducing the mobility advantage of abnormal grains. In addition, the fast precipitate coarsening rate tends to more quickly transform abnormal grain growth into normal grain growth by inducing the active growth of grains adjacent to the abnormal grains in the early stage. Therefore, the present study demonstrates that the time dependence of the pinning pressure of precipitates is a critical factor that determines the grain growth mode.

Effect of Time-Dependent Pinning Pressure on Abnormal Grain Growth: Phase Field Simulation

NASA Astrophysics Data System (ADS)

Kim, Jeong Min; Min, Guensik; Shim, Jae-Hyeok; Lee, Kyung Jong

2018-03-01

The effect of the time-dependent pinning pressure of precipitates on abnormal grain growth has been investigated by multiphase field simulation with a simple precipitation model. The application of constant pinning pressure is problematic because it always induces abnormal grain growth or no grain growth, which is not reasonable considering the real situation. To produce time-dependent pinning pressure, both precipitation kinetics and precipitate coarsening kinetics have been considered with two rates: slow and fast. The results show that abnormal grain growth is suppressed at the slow precipitation rate. At the slow precipitation rate, the overall grain growth caused by the low pinning pressure in the early stage indeed plays a role in preventing abnormal grain growth by reducing the mobility advantage of abnormal grains. In addition, the fast precipitate coarsening rate tends to more quickly transform abnormal grain growth into normal grain growth by inducing the active growth of grains adjacent to the abnormal grains in the early stage. Therefore, the present study demonstrates that the time dependence of the pinning pressure of precipitates is a critical factor that determines the grain growth mode.

Classification of breast abnormalities using artificial neural network

NASA Astrophysics Data System (ADS)

Zaman, Nur Atiqah Kamarul; Rahman, Wan Eny Zarina Wan Abdul; Jumaat, Abdul Kadir; Yasiran, Siti Salmah

2015-05-01

Classification is the process of recognition, differentiation and categorizing objects into groups. Breast abnormalities are calcifications which are tumor markers that indicate the presence of cancer in the breast. The aims of this research are to classify the types of breast abnormalities using artificial neural network (ANN) classifier and to evaluate the accuracy performance using receiver operating characteristics (ROC) curve. The methods used in this research are ANN for breast abnormalities classifications and Canny edge detector as a feature extraction method. Previously the ANN classifier provides only the number of benign and malignant cases without providing information for specific cases. However in this research, the type of abnormality for each image can be obtained. The existing MIAS MiniMammographic database classified the mammogram images into three features only namely characteristic of background tissues, class of abnormality and radius of abnormality. However, in this research three other features are added-in. These three features are number of spots, area and shape of abnormalities. Lastly the performance of the ANN classifier is evaluated using ROC curve. It is found that ANN has an accuracy of 97.9% which is considered acceptable.

Assessment of Navy Alcohol and Drug Abuse Education and Training Curricula, Revision Requirements

DTIC Science & Technology

1986-02-01

include the following: Introduction to Psychology Adolescent Psychology Maslow’s Hierarchy Abnormal Psychology Defense Mechanisms Anxiety... abnormal psychological development and behavior, techniques of psychological assessment and treatment, and the application of these skills in a variety...block number) The Chief of Naval Operations has taken a firm, constructive approach to drug and alcohol abuse problems in the Navy. Navy policy

Antenatal diagnosis of complete facial duplication--a case report of a rare craniofacial defect.

PubMed

Rai, V S; Gaffney, G; Manning, N; Pirrone, P G; Chamberlain, P F

1998-06-01

We report a case of the prenatal sonographic detection of facial duplication, the diprosopus abnormality, in a twin pregnancy. The characteristic sonographic features of the condition include duplication of eyes, mouth, nose and both mid- and anterior intracranial structures. A heart-shaped abnormality of the cranial vault should prompt more detailed examination for other supportive features of this rare condition.

[Cytogenetics, cytogenomics and cancer].

PubMed

Bernheim, Alain

2002-02-01

Chromosomal study in malignancy has demonstrated the pivotal role of somatic chromosomal rearrangements in oncogenesis and tumoral progression. Structural or quantitative these abnormalities can now be studied in great details with the various Fish techniques, including CGH on chromosomes or in a near future on micro arrays. The multistep pattern of most solid tumors is characterized and their genomic abnormalities more and more used for the diagnosis and the prognosis.

The non-motor syndrome of primary dystonia: clinical and pathophysiological implications

PubMed Central

Stamelou, Maria; Edwards, Mark J.; Hallett, Mark

2012-01-01

Dystonia is typically considered a movement disorder characterized by motor manifestations, primarily involuntary muscle contractions causing twisting movements and abnormal postures. However, growing evidence indicates an important non-motor component to primary dystonia, including abnormalities in sensory and perceptual functions, as well as neuropsychiatric, cognitive and sleep domains. Here, we review this evidence and discuss its clinical and pathophysiological implications. PMID:21933808

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

PubMed Central

Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Research on Secure Systems and Automatic Programming. Volume I

DTIC Science & Technology

1977-10-14

for the enforcement of adherence to authorization; they include physical limitations, legal codes, social pressures, and the psychological makeup of...systems job statistics and possibly indications of an support instructions. The criteria for their abnormal termination. * inclusion were high execution...interrupt processes, for the output data page. Jobs may also terminate however, use the standard SWI TCH PROCESS instruc- abnormally by executing an

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.

PubMed Central

Cavalcanti, D P

1989-01-01

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here. Images PMID:2614801

Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected.

PubMed

Najfeld, Vesna; Montella, Lya; Scalise, Angela; Fruchtman, Steven

2002-11-01

Between 1986 and 2001, 220 patients with polycythaemia vera (PV) were studied using conventional cytogenetics. Of 204 evaluable patients, 52 (25.4%) had clonal abnormalities. The recurrent chromosomal rearrangements were those of chromosome 9 (21.1%), del(20q) (19.2%), trisomy 8 (19.2%), rearrangements of 13q (13.4%), abnormalities of 1q (11.5%), and of chromosomes 5 and 7 (9.6%). Subsequent analysis of 32 patients, performed at follow-up of up to 14.8 years, revealed new clonal abnormalities in five patients and the disappearance of an abnormal clone in four. Eleven patients remained normal up to 11.5 years and seven patients maintained an abnormality for over 10 years. Fifty-three patients were studied retrospectively using interphase fluorescence in situ hybridization (I-FISH), utilizing probes for centromere enumeration of chromosomes 8 and 9, and for 13q14 and 20q12 loci. Conventional cytogenetics demonstrated clonal chromosome abnormalities in 23% of these 53 patients. The addition of I-FISH increased the detection of abnormalities to 29% and permitted clarification of chromosome 9 rearrangements in an additional 5.6% of patients. FISH uncovered rearrangements of chromosome 9 in 53% of patients with an abnormal FISH pattern, which represented the most frequent genomic alteration in this series.

The impact of facial abnormalities and their spatial position on perception of cuteness and attractiveness of infant faces

PubMed Central

Lewis, Jennifer; Roberson, Debi

2017-01-01

Research has demonstrated that how “cute” an infant is perceived to be has consequences for caregiving. Infants with facial abnormalities receive lower ratings of cuteness, but relatively little is known about how different abnormalities and their location affect these aesthetic judgements. The objective of the current study was to compare the impact of different abnormalities on the perception of infant faces, while controlling for infant identity. In two experiments, adult participants gave ratings of cuteness and attractiveness in response to face images that had been edited to introduce common facial abnormalities. Stimulus faces displayed either a haemangioma (a small, benign birth mark), strabismus (an abnormal alignment of the eyes) or a cleft lip (an abnormal opening in the upper lip). In Experiment 1, haemangioma had less of a detrimental effect on ratings than the more severe abnormalities. In Experiment 2, we manipulated the position of a haemangioma on the face. We found small but robust effects of this position, with abnormalities in the top and on the left of the face receiving lower cuteness ratings. This is consistent with previous research showing that people attend more to the top of the face (particularly the eyes) and to the left hemifield. PMID:28749958

Mid-gestation brain Doppler and head biometry in fetuses with congenital heart disease predict abnormal brain development at birth.

PubMed

Masoller, N; Sanz-CortéS, M; Crispi, F; Gómez, O; Bennasar, M; Egaña-Ugrinovic, G; Bargalló, N; Martínez, J M; Gratacós, E

2016-01-01

Fetuses with congenital heart disease (CHD) show evidence of abnormal brain development before birth, which is thought to contribute to adverse neurodevelopment during childhood. Our aim was to evaluate whether brain development in late pregnancy can be predicted by fetal brain Doppler, head biometry and the clinical form of CHD at the time of diagnosis. This was a prospective cohort study including 58 fetuses with CHD, diagnosed at 20-24 weeks' gestation, and 58 normal control fetuses. At the time of diagnosis, we recorded fetal head circumference (HC), biparietal diameter, middle cerebral artery pulsatility index (MCA-PI), cerebroplacental ratio (CPR) and brain perfusion by fractional moving blood volume. We classified cases into one of two clinical types defined by the expected levels (high or low) of placental (well-oxygenated) blood perfusion, according to the anatomical defect. All fetuses underwent subsequent 3T-magnetic resonance imaging (MRI) at 36-38 weeks' gestation. Abnormal prenatal brain development was defined by a composite score including any of the following findings on MRI: total brain volume <  10(th) centile, parietoccipital or cingulate fissure depth <  10(th) centile or abnormal metabolic profile in the frontal lobe. Logistic regression analysis demonstrated that MCA-PI (odds ratio (OR), 12.7; P = 0.01), CPR (OR, 8.7; P = 0.02) and HC (OR, 6.2; P = 0.02) were independent predictors of abnormal neurodevelopment; however, the clinical type of CHD was not. Fetal brain Doppler and head biometry at the time of CHD diagnosis are independent predictors of abnormal brain development at birth, and could be used in future algorithms to improve counseling and targeted interventions. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Electrocardiographic Abnormalities in Elderly Chagas Disease Patients: 10‐Year Follow‐Up of the Bambuí Cohort Study of Aging

PubMed Central

Ribeiro, Antonio Luiz P.; Marcolino, Milena S.; Prineas, Ronald J.; Lima‐Costa, Maria Fernanda

2014-01-01

Background Electrocardiography has been considered an important tool in the management of Chagas disease (ChD) patients, although its value in elderly infected patients is unknown. This study was designed to investigate the prevalence and prognostic value of electrocardiographic abnormalities in Trypanosoma cruzi infected and noninfected older adults. Methods and Results We studied 1462 participants in Bambuí City, Brazil, with electrocardiogram (ECG) records classified by the Minnesota Code. Follow‐up time was 10 years; the endpoint was mortality. Adjustment for potential confounding variables included age, gender, conventional risk factors, and B‐type natriuretic peptide (BNP). The mean age was 69 years (60.9% women). The prevalence of ChD was 38.1% (n=557). ECG abnormalities were more frequent in ChD patients (87.6% versus 77.7%, P<0.001). Right bundle branch block (RBBB) with left anterior hemiblock (LAH) was strongly related to ChD (OR: 11.99 [5.60 to 25.69]). During the mean follow‐up time of 8.7 years, 556 participants died (253 with ChD), and only 89 were lost to follow‐up. ECG variables of independent prognostic value for death in ChD included absence of sinus rhythm, frequent ventricular and supraventricular premature beats, atrial fibrillation, RBBB, old and possible old myocardial infarction, and left ventricular hypertrophy. The presence of any major ECG abnormalities doubled the risk of death in ChD patients (HR: 2.18 [1.35 to 3.53]), but it also increased the risk in non‐ChD subjects (HR: 1.50 [1.07 to 2.10]); the risk of death increased with the number of major abnormalities in the same patient. Conclusion ECG abnormalities are more common among elderly Chagas disease patients and strongly predict adverse outcomes. PMID:24510116

Health-related quality of life experienced by children with chromosomal abnormalities and congenital heart defects.

PubMed

Garcia Guerra, Gonzalo; Joffe, Ari R; Robertson, Charlene M T; Atallah, Joseph; Alton, Gwen; Sauve, Reg S; Dinu, Irina A; Ross, David B; Rebeyka, Ivan M

2014-03-01

Long-term outcomes are fundamental in advising parents about the potential future of their children with congenital heart disease (CHD). No published reports have described the health-related quality of life (HRQL) experienced by children with chromosomal abnormalities who had surgery in early infancy for CHD. A study was undertaken to assess HRQL among children with chromosomal abnormalities and CHD. The authors hypothesized that these children have a worse HRQL than healthy children or a cohort of children matched for CHD diagnosis. Infants with chromosomal abnormalities undergoing cardiac surgery for CHD at 6 weeks of age or younger at the Stollery Children's Hospital between July 2000 and June 2005 were included in the study. The HRQL of these infants was assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales completed by their parents at a 4-year follow-up evaluation. The study compared the scores for 16 children with normative data. The children with chromosomal abnormalities and CHD had significantly lower mean total PedsQL (71.3 vs. 87.3; p < 0.0001), Psychosocial Summary (70.3 vs. 86.1; p < 0.0001), and Physical Summary (74.3 vs. 89.2; p = 0.0006) scores. Compared with the matched children, those with chromosomal abnormalities had a significantly lower median total PedsQL (75.0 vs. 84.6; p = 0.03), Physical Summary (79.5 vs. 96.9; p = 0.007), and School Functioning (68.5 vs. 83.0; p = 0.03) scores. A better understanding of the mechanisms and determinants of HRQL in these children has the potential to yield important implications for clinical practice including clarity for treatment decision making as well as determination of targeted supports and services to meet the needs of these children and their families differentially.

Study of Abnormal Liver Function Test during Pregnancy in a Tertiary Care Hospital in Chhattisgarh.

PubMed

Mishra, Nalini; Mishra, V N; Thakur, Parineeta

2016-10-01

Abnormal liver function tests (LFTs) in pregnancy require proper interpretation in order to avoid pitfalls in the diagnosis. The underlying disorder can have a significant effect on the outcome of both mother and foetus. The present study was done with the objective to study the clinical profile, incidence and possible causes of derangements of liver function tests. Eighty pregnant women with abnormal liver dysfunction were studied prospectively. Women with chronic liver disease and drug-induced abnormal liver function test were excluded. All available LFTs including LDH were studied along with some more definitive tests to aid identification of underlying cause. Foetomaternal outcome was noted in all. The incidence of abnormal LFT was 0.9 %. 13/80 (16.75 %) women had liver disorder not specific to pregnancy, whereas 67/80 (83.25 %) women had pregnancy-specific liver dysfunction. Of these, 65(81.25 %) women with liver dysfunction had pre-eclampsia including 11 (13.75 %) with HELLP and six women with eclampsia. 48/65 (60 %) women had pre-eclampsia in the absence of HELLP syndrome or eclampsia. The mean value for bilirubin (mg %) in hypertensive disorders of pregnancy ranged from 1.64 to 3.8, between 5 and 10 for ICP and AFLP and >10 in infective hepatitis. Transaminases were highest in infective hepatitis, whereas alkaline phosphate was highest in ICP. Total 27 (33.75 %) women suffered from adverse outcome with four (5 %) maternal deaths and 23 (28.75 %) major maternal morbidities. 33/80 (41.25 %) women had intrauterine death. 26.25 % babies were small for date. Pregnancy-specific disorders are the leading cause of abnormal liver function test during pregnant state particularly in the third trimester. Pre-eclampsia-related disorder is the commonest. Gestational age of pregnancy and relative values of various liver function tests in different pregnancy-specific and pregnancy nonspecific disorders appear to be the best guide to clinch the diagnosis.

Adaptive neuro-fuzzy and expert systems for power quality analysis and prediction of abnormal operation

NASA Astrophysics Data System (ADS)

Ibrahim, Wael Refaat Anis

The present research involves the development of several fuzzy expert systems for power quality analysis and diagnosis. Intelligent systems for the prediction of abnormal system operation were also developed. The performance of all intelligent modules developed was either enhanced or completely produced through adaptive fuzzy learning techniques. Neuro-fuzzy learning is the main adaptive technique utilized. The work presents a novel approach to the interpretation of power quality from the perspective of the continuous operation of a single system. The research includes an extensive literature review pertaining to the applications of intelligent systems to power quality analysis. Basic definitions and signature events related to power quality are introduced. In addition, detailed discussions of various artificial intelligence paradigms as well as wavelet theory are included. A fuzzy-based intelligent system capable of identifying normal from abnormal operation for a given system was developed. Adaptive neuro-fuzzy learning was applied to enhance its performance. A group of fuzzy expert systems that could perform full operational diagnosis were also developed successfully. The developed systems were applied to the operational diagnosis of 3-phase induction motors and rectifier bridges. A novel approach for learning power quality waveforms and trends was developed. The technique, which is adaptive neuro fuzzy-based, learned, compressed, and stored the waveform data. The new technique was successfully tested using a wide variety of power quality signature waveforms, and using real site data. The trend-learning technique was incorporated into a fuzzy expert system that was designed to predict abnormal operation of a monitored system. The intelligent system learns and stores, in compressed format, trends leading to abnormal operation. The system then compares incoming data to the retained trends continuously. If the incoming data matches any of the learned trends, an alarm is instigated predicting the advent of system abnormal operation. The incoming data could be compared to previous trends as well as matched to trends developed through computer simulations and stored using fuzzy learning.

Diagnosis and management of temperature abnormality in ICUs: a EUROBACT investigators' survey.

PubMed

Niven, Daniel J; Laupland, Kevin B; Tabah, Alexis; Vesin, Aurélien; Rello, Jordi; Koulenti, Despoina; Dimopoulos, George; de Waele, Jan; Timsit, Jean-Francois

2013-12-10

Although fever and hypothermia are common abnormal physical signs observed in patients admitted to intensive care units (ICU), little data exist on their optimal management. The objective of this study was to describe contemporary practices and determinants of management of temperature abnormalities among patients admitted to ICUs. Site leaders of the multi-national EUROBACT study were surveyed regarding diagnosis and management of temperature abnormalities among patients admitted to their ICUs. Of the 162 ICUs originally included in EUROBACT, responses were received from 139 (86%) centers in 23 countries in Europe (117), South America (8), Asia (5), North America (4), Australia (3) and Africa (2). A total of 117 (84%) respondents reported use of a specific temperature threshold in their ICU to define fever. A total of 14 different discrete levels were reported with a median of 38.2°C (inter-quartile range, IQR, 38.0°C to 38.5°C). The use of thermometers was protocolized in 91 (65%) ICUs and a wide range of methods were reportedly used, with axillary, tympanic and urinary bladder sites as the most common as primary modalities. Only 31 (22%) of respondents indicated that there was a formal written protocol for temperature control among febrile patients in their ICUs. In most or all cases practice was to control temperature, to use acetaminophen, and to perform a full septic workup in febrile patients and that this was usually directed by physician order. While reported practice was to treat nearly all patients with neurological impairment and most patients with acute coronary syndromes and infections, severe sepsis and septic shock, this was not the case for most patients with liver failure and fever. A wide range of definitions and management practices were reported regarding temperature abnormalities in the critically ill. Documenting temperature abnormality management practices, including variability in clinical care, is important to inform planning of future studies designed to optimize infection and temperature management strategies in the critically ill.

A clinical and ultrasonographic study of risk factors for elbow injury in young baseball players.

PubMed

Tajika, T; Kobayashi, T; Yamamoto, A; Kaneko, T; Shitara, H; Shimoyama, D; Iizuka, Y; Okamura, K; Yonemoto, Y; Warita, T; Ohsawa, T; Nakajima, I; Iizuka, H; Takagishi, K

2016-04-01

To determine the risk factors for elbow injury and its association with glenohumeral internal rotation deficit among young baseball players. 229 baseball players aged 9 to 14 (mean, 11) years completed a self-administered questionnaire with items related to years of playing baseball, hours of training per weekday, days of training per week, and past and present experience of elbow pain. Two orthopaedic surgeons measured the range of motion of both shoulders and elbows. Another 2 orthopaedic surgeons performed ultrasonography to detect any elbow abnormality such as fragmentation of the medial epicondylar apophysis and osteochondritis dissecans of the capitellum. Using univariate and multivariable analyses, participants with or without elbow abnormality were compared to determine the risk factors for elbow abnormality. Elbow abnormality was detected in 100 of the participants and comprised osteochondritis dissecans of the capitellum (n=18) and fragmentation of the medial epicondylar apophysis (n=82). Elbow abnormality was associated with being a pitcher, past and present experience of elbow pain, loss of elbow extension, and the side-to-side internal rotation difference. The 100 participants with elbow abnormality were stratified into symptomatic (n=57) or asymptomatic (n=43) of elbow pain. Those with elbow abnormality and elbow pain was associated with being a pitcher. Being a pitcher was a risk factor for both elbow abnormality and elbow pain. Nonetheless, 43% of baseball players with elbow abnormality were asymptomatic. The use of ultrasonography was effective in detecting elbow abnormality and enabling early treatment.

ELECTROCARDIOGRAPHIC ABNORMALITIES AMONG MEXICAN AMERICANS: CORRELATIONS WITH DIABETES, OBESITY, AND THE METABOLIC SYNDROME.

PubMed

Queen, Saulette R; Smulevitz, Beverly; Rentfro, Anne R; Vatcheva, Kristina P; Kim, Hyunggun; McPherson, David D; Hanis, Craig L; Fisher-Hoch, Susan P; McCormick, Joseph B; Laing, Susan T

2012-04-01

Resting ischemic electrocardiographic abnormalities have been associated with cardiovascular mortality. Simple markers of abnormal autonomic tone have also been associated with diabetes, obesity, and the metabolic syndrome in some populations. Data on these electrocardiographic abnormalities and correlations with coronary risk factors are lacking among Mexican Americans wherein these conditions are prevalent. This study aimed to evaluate the prevalent resting electrocardiographic abnormalities among community-dwelling Mexican Americans, and correlate these findings with coronary risk factors, particularly diabetes, obesity, and the metabolic syndrome. Study subjects (n=1280) were drawn from the Cameron County Hispanic Cohort comprised of community-dwelling Mexican Americans living in Brownsville, Texas at the United States-Mexico border. Ischemic electrocardiographic abnormalities were defined as presence of ST/T wave abnormalities suggestive of ischemia, abnormal Q waves, and left bundle branch block. Parameters that reflect autonomic tone, such as heart rate-corrected QT interval and resting heart rate, were also measured. Ischemic electrocardiographic abnormalities were more prevalent among older persons and those with hypertension, diabetes, obesity, and the metabolic syndrome. Subjects in the highest quartiles of QTc interval and resting heart rate were also more likely to be diabetic, hypertensive, obese, or have the metabolic syndrome. Among Mexican Americans, persons with diabetes, obesity, and the metabolic syndrome were more likely to have ischemic electrocardiographic abnormalities, longer QTc intervals, and higher resting heart rates. A resting electrocardiogram can play a complementary role in the comprehensive evaluation of cardiovascular risk in this minority population.

[Regression analysis of serum bone metabolic markers and traditional Chinese medicine syndromes in patients with CKD-MBD].

PubMed

Yang, Hai-Ming; Meng, Xian-Jie; Wu, Wei; Liu, Ying-Lu; Zhai, Xiao-Juan

2017-10-01

To analyze the interdependent relationship between serum bone metabolic markers and traditional Chinese medicine (TCM) syndromes in patients with chronic kidney disease (stages 3 and 4)-related mineral and bone disorder (CKD-MBD), in order to provide the objective basis for exploring the rules of TCM syndrome differentiation in patients with CKD-MBD. The retrospective survey was conducted to collect 105 cases with CKD (stages 3 and 4)-MBD. General clinical indexes, frequency of TCM syndromes and distribution of TCM syndrome type were investigated. Furthermore, serum bone metabolic markers, including calcium (Ca2+), phosphonium (P3+), intact parathyroid hormone (iPTH), alkaline phosphatase (ALP), procollagen type 1 amino-N-terminal propeptide (P1NP) and β-crosslaps (β-CTX) were analyzed, respectively. Meanwhile, bone mineral density (BMD) was assessed. And then, the multivariate regression analysis was performed for serum bone metabolic markers and TCM syndromes. The results showed that the general clinical features of the 105 patients included old age, hypertension, fracture, loss of bone mass and mild abnormalities of serum bone metabolic markers. High-frequency TCM syndromes were related to Yang deficiency in Spleen and Kidney, Qi deficiency in Spleen and Kidney and blood stasis. Moreover, Yang deficiency in Spleen and Kidney and blood stasis were found as the most frequent characteristics of the distribution of TCM syndromes type. The clinical characteristics of patients with the syndrome type of Yang deficiency in Spleen and Kidney were probably old age, increase in TCM syndrome scores and abnormalities in iPTH and P1NP. In addition, the interdependent relationship between abnormality in Ca2+ and syndromes of hair loss, tooth shake and sexual dysfunction, abnormality in P3+ and syndromes of aches in waist and knees, abnormality in iPTH and syndromes of soreness and weakness in waist and knees, lassitude, fatigue and extreme chilliness, abnormality in ALP and syndromes of loose stools, abnormality in P1NP and syndromes of fear of chills, tendency of warmth and loose stools, and abnormality in β-CTX and syndromes of chills and pain in waist and knees. In general, among the 105 cases with CKD (stages 3 and 4)-MBD were clinically characterized by mild changes in serum bone metabolic markers; And their main TCM syndrome was the deficiency in spleen and kidney. Serum bone metabolic markers with mild changes have an interdependent relationship with main TCM syndromes, and can be considered as an objective syndrome factor of TCM syndrome differentiation. Copyright© by the Chinese Pharmaceutical Association.

Avoiding Complications with MPFL Reconstruction.

PubMed

Smith, Marvin K; Werner, Brian C; Diduch, David R

2018-05-12

To discuss the potentially significant complications associated with medial patellofemoral ligament (MPFL) reconstruction. Additionally, to review the most current and relevant literature with an emphasis on avoiding these potential complications. Multiple cadaveric studies have characterized the anatomy of the MPFL and the related morphologic abnormalities that contribute to recurrent lateral patellar instability. Such abnormalities include patella alta, excessive tibial tubercle to trochlear grove (TT-TG) distance, trochlear dysplasia, and malalignment. Recent studies have evaluated the clinical outcomes associated with the treatment of concomitant pathology in combination with MPFL reconstruction, which is critical in avoiding recurrent instability and complications. Although there remains a lack of consensus regarding various critical aspects of MPFL reconstruction, certain concepts remain imperative. Our preferred methods and rationales for surgical techniques are described. These include appropriate work up, a combination of procedures to address abnormal morphology, anatomical femoral insertion, safe and secure patellar fixation, appropriate graft length fixation, and thoughtful knee flexion during fixation.

Félix Voisin and the genesis of abnormals.

PubMed

Doron, Claude-Olivier

2015-12-01

This article traces the genealogy of the category of 'abnormals' in psychiatry. It focuses on the French alienist Felix Voisin (1794-1872) who played a decisive role in the creation of alienist knowledge and institutions for problem children, criminals, idiots and lunatics. After a presentation of the category of 'abnormals' as understood at the end of the nineteenth century, I identify in the works of Voisin a key moment in the concept's evolution. I show how, based on concepts borrowed from phrenology and applied first to idiocy, Voisin allows alienism to establish links between the medico-legal (including penitentiary) and medical-educational fields (including difficult childhood). I stress the extent to which this enterprise is related to Voisin's humanism, which claimed to remodel pedagogy and the right to punish on the anthropological particularities of individuals, in order to improve them. © The Author(s) 2015.

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

Schneider, Kevin; Tuffner, Frank; Elizondo, Marcelo

Regulated electricity utilities are required to provide safe and reliable service to their customers at a reasonable cost. To balance the objectives of reliable service and reasonable cost, utilities build and operate their systems to operate under typical historic conditions. As a result, when abnormal events such as major storms or disasters occur, it is not uncommon to have extensive interruptions in service to the end-use customers. Because it is not cost effective to make the existing electrical infrastructure 100% reliable, society has come to expect disruptions during abnormal events. However, with the increasing number of abnormal weather events, themore » public is becoming less tolerant of these disruptions. One possible solution is to deploy microgrids as part of a coordinated resiliency plan to minimize the interruption of power to essential loads. This paper evaluates the feasibility of using microgrids as a resiliency resource, including their possible benefits and the associated technical challenges. A use-case of an operational microgrid is included.« less

Brain anomalies in velo-cardio-facial syndrome

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

Mitnick, R.J.; Bello, J.A.; Shprintzen, R.J.

Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardio-facial syndrome (VCF) showed anomalies in nine cases including small vermis, cysts adjacent to the frontal horns, and small posterior fossa. Focal signal hyperintensities in the white matter on long TR images were also noted. The nine patients showed a variety of behavioral abnormalities including mild development delay, learning disabilities, and characteristic personality traits typical of this common multiple anomaly syndrome which has been related to a microdeletion at 22q11. Analysis of the behavorial findings showed no specific pattern related to the brain anomalies, and the patients withmore » VCF who did not have detectable brain lesions also had behavioral abnormalities consistent with VCF. The significance of the lesions is not yet known, but the high prevalence of anomalies in this sample suggests that structural brain abnormalities are probably common in VCF. 25 refs.« less

Reward Processing, Neuroeconomics, and Psychopathology.

PubMed

Zald, David H; Treadway, Michael T

2017-05-08

Abnormal reward processing is a prominent transdiagnostic feature of psychopathology. The present review provides a framework for considering the different aspects of reward processing and their assessment, and highlights recent insights from the field of neuroeconomics that may aid in understanding these processes. Although altered reward processing in psychopathology has often been treated as a general hypo- or hyperresponsivity to reward, increasing data indicate that a comprehensive understanding of reward dysfunction requires characterization within more specific reward-processing domains, including subjective valuation, discounting, hedonics, reward anticipation and facilitation, and reinforcement learning. As such, more nuanced models of the nature of these abnormalities are needed. We describe several processing abnormalities capable of producing the types of selective alterations in reward-related behavior observed in different forms of psychopathology, including (mal)adaptive scaling and anchoring, dysfunctional weighting of reward and cost variables, competition between valuation systems, and reward prediction error signaling.

Reward Processing, Neuroeconomics, and Psychopathology

PubMed Central

Zald, David H.; Treadway, Michael

2018-01-01

Abnormal reward processing is a prominent transdiagnostic feature of psychopathology. The present review provides a framework for considering the different aspects of reward processing and their assessment and highlight recent insights from the field of neuroeconomics that may aid in understanding these processes. Although altered reward processing in psychopathology has often been treated as a general hypo- or hyper-responsivity to reward, increasing data indicate that a comprehensive understanding of reward dysfunction requires characterization within more specific reward processing domains, including subjective valuation, discounting, hedonics, reward anticipation and facilitation, and reinforcement learning. As such, more nuanced models of the nature of these abnormalities are needed. We describe several processing abnormalities capable of producing the types of selective alterations in reward related behavior observed in different forms of psychopathology, including (mal)adaptive scaling and anchoring, dysfunctional weighting of reward and cost variables, completion between valuation systems, and positive prediction error signaling. PMID:28301764

Neural conduction abnormality in the brain stem and prevalence of the abnormality in late preterm infants with perinatal problems.

PubMed

Jiang, Ze Dong

2013-08-01

Neurodevelopment in late preterm infants has recently attracted considerable interest. The prevalence of brain stem conduction abnormality remains unknown. We examined maximum length sequence brain stem auditory evoked response in 163 infants, born at 33-36 weeks gestation, who had various perinatal problems. Compared with 49 normal term infants without problems, the late preterm infants showed a significant increase in III-V and I-V interpeak intervals at all 91-910/s clicks, particularly at 455 and 910/s (p < 0.01-0.001). The I-III interval was slightly increased, without statistically significant difference from the controls at any click rates. These results suggest that neural conduction along the, mainly more central or rostral part of, auditory brain stem is abnormal in late preterm infants with perinatal problems. Of the 163 late preterm infant, the number (and percentage rate) of infants with abnormal I-V interval at 91, 227, 455, and 910/s clicks was, respectively, 11 (6.5%), 17 (10.2%), 37 (22.3%), and 31 (18.7%). The number (and percentage rate) of infants with abnormal III-V interval at these rates was, respectively, 10 (6.0%), 17 (10.2%), 28 (16.9), and 36 (21.2%). Apparently, the abnormal rates were much higher at 455 and 910/s clicks than at lower rates 91 and 227/s. In total, 42 (25.8%) infants showed abnormal I-V and/or III-V intervals. Conduction in, mainly in the more central part, the brain stem is abnormal in late preterm infants with perinatal problems. The abnormality is more detectable at high- than at low-rate sensory stimulation. A quarter of late preterm infants with perinatal problems have brain stem conduction abnormality.

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

PubMed

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

2000-01-01

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

Prenatal Diagnosis of Abnormal Invasive Placenta by Ultrasound: Measurement of Highest Peak Systolic Velocity of Subplacental Blood Flow.

PubMed

Zhang, Junling; Li, Hezhou; Wang, Fang; Qin, Hongyan; Qin, Qiaohong

2018-05-07

The aim of the study described here was to identify an efficient criterion for the prenatal diagnosis of abnormal invasive placenta. We evaluated 129 women with anterior placenta previa who underwent trans-abdominal ultrasound evaluation in the third trimester. Spectral Doppler ultrasonography was performed to assess the subplacental blood flow of the anterior lower uterine segment by measuring the highest peak systolic velocity and resistive index. These patients were prospectively followed until delivery and evaluated for abnormal placental invasion. The peak systolic velocity and resistive index of patients with and without abnormal placental invasion were then compared. Postpartum examination revealed that 55 of the patients had an abnormal invasive placenta, whereas the remaining 74 did not. Patients with abnormal placental invasion had a higher peak systolic velocity of the subplacental blood flow in the lower segment of the anterior aspect of the uterus (area under receiver operating characteristic curve: 0.91; 95% confidence interval: 0.87-0.96) than did those without abnormal placental invasion. Our preliminary investigations suggest that a peak systolic velocity of 41 cm/s can be considered a cutoff point to diagnose abnormal invasive placenta, with both good sensitivity (87%) and good specificity (78%), and the higher the peak systolic velocity, the greater is the chance of abnormal placental invasion. Resistive index had no statistical significance (area under receiver operating characteristic curve, 0.56; 95% confidence interval: 0.46-0.66) in the diagnosis of abnormal invasive placenta. In conclusion, measurement of the highest peak systolic velocity of subplacental blood flow in the anterior lower uterine segment can serve as an additional marker of anterior abnormal invasive placenta. Copyright © 2018 World Federation for Ultrasound in Medicine and Biology. Published by Elsevier Inc. All rights reserved.

Electrocardiogram abnormalities and coronary calcification in postmenopausal women.

PubMed

Sabour, Siamak; Grobbee, Diederick; Rutten, Annemarieke; Prokop, Mathias; Bartelink, Marie-Louise; van der Schouw, Yvonne; Bots, Michiel

2010-01-01

An electrocardiogram (ECG) can provide information on subclinical myocardial damage. The presence, and more importantly, the quantity of coronary artery calcification (CAC), relates well with the overall severity of the atherosclerotic process. A strong relation has been demonstrated between coronary calcium burden and the incidence of myocardial infarction, a relation independent of age. The aim of this study was to assess the relation of left ventricular hypertrophy (LVH) and ECG abnormalities with CAC. The study population comprised 566 postmenopausal women selected from a population-based cohort study. Information on LVH and repolarization abnormalities (T-axis and QRS-T angle) was obtained using electrocardiography. Modular ECG Analysis System (MEANS) was used to assess ECG abnormalities. The women underwent a multi detector-row computed tomography (MDCT) scan (Philips Mx 8000 IDT 16) to assess CAC. The Agatston score was used to quantify CAC; scores greater than zero were considered as the presence of coronary calcium. Logistic regression was used to assess the relation of ECG abnormality with coronary calcification. LVH was found in 2.7% (n = 15) of the women. The prevalence of T-axis abnormality was 6% (n = 34), whereas 8.5% (n = 48) had a QRS-T angle abnormality. CAC was found in 62% of the women. Compared to women with a normal T-axis, women with borderline or abnormal T-axes were 3.8 fold more likely to have CAC (95% CI: 1.4-10.2). Similarly, compared to women with a normal QRS-T angle, in women with borderline or abnormal QRS-T angle, CAC was 2.0 fold more likely to be present (95% CI: 1.0-4.1). Among women with ECG abnormalities reflecting subclinical ischemia, CAC is commonly found and may in part explain the increased coronary heart disease risk associated with these ECG abnormalities.

MRI appearance of surgically proven abnormal accessory anterior-inferior tibiofibular ligament (Bassett's ligament).

PubMed

Subhas, Naveen; Vinson, Emily N; Cothran, R Lee; Santangelo, James R; Nunley, James A; Helms, Clyde A

2008-01-01

A thickened accessory anterior-inferior tibiofibular ligament (Bassett's ligament) of the ankle can be a cause of ankle impingement. Its imaging appearance is not well described. The purpose of this study was to determine if the ligament could be identified on magnetic resonance imaging (MRI), to determine associated abnormalities, and to determine if MRI could be used to differentiate normal from abnormal. Eighteen patients with a preoperative ankle MRI and an abnormal Bassett's ligament reported at surgery were found retrospectively. A separate cohort of 18 patients was selected as a control population. The presence of Bassett's ligament and its thickness were noted. The integrity and appearance of the lateral ankle ligaments, talar dome cartilage, and anterolateral gutter were also noted. In 34 of the 36 cases (94%), Bassett's ligament was identified on MRI. The ligament was seen in all three imaging planes and most frequently in the axial plane. The mean thickness of the ligament in the surgically abnormal cases was 2.37 mm, compared with 1.87 mm in the control with a p value=0.015 (t test). Nine of the 18 abnormal cases (50%) had talar dome cartilage lesions as a result of contact with the ligament at surgery, with only 3 cases of high-grade defects seen on MRI. Fourteen of the 18 abnormal cases (78%) had of synovitis or scarring in the lateral gutter at surgery, with only 5 cases with scarring seen on MRI. The anterior-inferior tibiofibular ligament was abnormal or torn in 8 of the 18 abnormal cases (44%) by MRI and confirmed in only 3 cases at surgery. Bassett's ligament can be routinely identified on MRI and was significantly thicker in patients who had it resected at surgery. An abnormal Bassett's ligament is often present in the setting of a normal anterior-inferior tibiofibular ligament. The cartilage abnormalities and synovitis associated with an abnormal Bassett's ligament are poorly detected by conventional MRI.

The association between reduced knee joint proprioception and medial meniscal abnormalities using MRI in knee osteoarthritis: results from the Amsterdam osteoarthritis cohort.

PubMed

van der Esch, M; Knoop, J; Hunter, D J; Klein, J-P; van der Leeden, M; Knol, D L; Reiding, D; Voorneman, R E; Gerritsen, M; Roorda, L D; Lems, W F; Dekker, J

2013-05-01

Osteoarthritis (OA) of the knee is characterized by pain and activity limitations. In knee OA, proprioceptive accuracy is reduced and might be associated with pain and activity limitations. Although causes of reduced proprioceptive accuracy are divergent, medial meniscal abnormalities, which are highly prevalent in knee OA, have been suggested to play an important role. No study has focussed on the association between proprioceptive accuracy and meniscal abnormalities in knee OA. To explore the association between reduced proprioceptive accuracy and medial meniscal abnormalities in a clinical sample of knee OA subjects. Cross-sectional study in 105 subjects with knee OA. Knee proprioceptive accuracy was assessed by determining the joint motion detection threshold in the knee extension direction. The knee was imaged with a 3.0 T magnetic resonance (MR) scanner. Number of regions with medial meniscal abnormalities and the extent of abnormality in the anterior and posterior horn and body were scored according to the Boston-Leeds Osteoarthritis Knee Score (BLOKS) method. Multiple regression analyzes were used to examine whether reduced proprioceptive accuracy was associated with medial meniscal abnormalities in knee OA subjects. Mean proprioceptive accuracy was 2.9° ± 1.9°. Magnetic resonance imaging (MRI)-detected medial meniscal abnormalities were found in the anterior horn (78%), body (80%) and posterior horn (90%). Reduced proprioceptive accuracy was associated with both the number of regions with meniscal abnormalities (P < 0.01) and the extent of abnormality (P = 0.02). These associations were not confounded by muscle strength, joint laxity, pain, age, gender, body mass index (BMI) and duration of knee complaints. This is the first study showing that reduced proprioceptive accuracy is associated with medial meniscal abnormalities in knee OA. The study highlights the importance of meniscal abnormalities in understanding reduced proprioceptive accuracy in persons with knee OA. Copyright © 2013 Osteoarthritis Research Society International. All rights reserved.

T-Wave Abnormality as Electrocardiographic Signature of Myocardial Edema in Non-ST-Elevation Acute Coronary Syndromes.

PubMed

Cardona, Andrea; Zareba, Karolina M; Nagaraja, Haikady N; Schaal, Stephen F; Simonetti, Orlando P; Ambrosio, Giuseppe; Raman, Subha V

2018-01-26

T-wave abnormalities are common during the acute phase of non-ST-segment elevation acute coronary syndromes, but mechanisms underlying their occurrence are unclear. We hypothesized that T-wave abnormalities in the presentation of non-ST-segment elevation acute coronary syndromes correspond to the presence of myocardial edema. Secondary analysis of a previously enrolled prospective cohort of patients presenting with non-ST-segment elevation acute coronary syndromes was conducted. Twelve-lead electrocardiography (ECG) and cardiac magnetic resonance with T2-weighted imaging were acquired before invasive coronary angiography. ECGs were classified dichotomously (ie, ischemic versus normal/nonischemic) and nominally according to patterns of presentation: no ST- or T-wave abnormalities, isolated T-wave abnormality, isolated ST depression, ST depression+T-wave abnormality. Myocardial edema was determined by expert review of T2-weighted images. Of 86 subjects (65% male, 59.4 years), 36 showed normal/nonischemic ECG, 25 isolated T-wave abnormalities, 11 isolated ST depression, and 14 ST depression+T-wave abnormality. Of 30 edema-negative subjects, 24 (80%) had normal/nonischemic ECGs. Isolated T-wave abnormality was significantly more prevalent in edema-positive versus edema-negative subjects (41.1% versus 6.7%, P =0.001). By multivariate analysis, an ischemic ECG showed a strong association with myocardial edema (odds ratio 12.23, 95% confidence interval 3.65-40.94, P <0.0001). Among individual ECG profiles, isolated T-wave abnormality was the single strongest predictor of myocardial edema (odds ratio 23.84, 95% confidence interval 4.30-132, P <0.0001). Isolated T-wave abnormality was highly specific (93%) but insensitive (43%) for detecting myocardial edema. T-wave abnormalities in the setting of non-ST-segment elevation acute coronary syndromes are related to the presence of myocardial edema. High specificity of this ECG alteration identifies a change in ischemic myocardium associated with worse outcomes that is potentially reversible. © 2018 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

Lung volumes and emphysema in smokers with interstitial lung abnormalities.

PubMed

Washko, George R; Hunninghake, Gary M; Fernandez, Isis E; Nishino, Mizuki; Okajima, Yuka; Yamashiro, Tsuneo; Ross, James C; Estépar, Raúl San José; Lynch, David A; Brehm, John M; Andriole, Katherine P; Diaz, Alejandro A; Khorasani, Ramin; D'Aco, Katherine; Sciurba, Frank C; Silverman, Edwin K; Hatabu, Hiroto; Rosas, Ivan O

2011-03-10

Cigarette smoking is associated with emphysema and radiographic interstitial lung abnormalities. The degree to which interstitial lung abnormalities are associated with reduced total lung capacity and the extent of emphysema is not known. We looked for interstitial lung abnormalities in 2416 (96%) of 2508 high-resolution computed tomographic (HRCT) scans of the lung obtained from a cohort of smokers. We used linear and logistic regression to evaluate the associations between interstitial lung abnormalities and HRCT measurements of total lung capacity and emphysema. Interstitial lung abnormalities were present in 194 (8%) of the 2416 HRCT scans evaluated. In statistical models adjusting for relevant covariates, interstitial lung abnormalities were associated with reduced total lung capacity (-0.444 liters; 95% confidence interval [CI], -0.596 to -0.292; P<0.001) and a lower percentage of emphysema defined by lung-attenuation thresholds of -950 Hounsfield units (-3%; 95% CI, -4 to -2; P<0.001) and -910 Hounsfield units (-10%; 95% CI, -12 to -8; P<0.001). As compared with participants without interstitial lung abnormalities, those with abnormalities were more likely to have a restrictive lung deficit (total lung capacity <80% of the predicted value; odds ratio, 2.3; 95% CI, 1.4 to 3.7; P<0.001) and were less likely to meet the diagnostic criteria for chronic obstructive pulmonary disease (COPD) (odds ratio, 0.53; 95% CI, 0.37 to 0.76; P<0.001). The effect of interstitial lung abnormalities on total lung capacity and emphysema was dependent on COPD status (P<0.02 for the interactions). Interstitial lung abnormalities were positively associated with both greater exposure to tobacco smoke and current smoking. In smokers, interstitial lung abnormalities--which were present on about 1 of every 12 HRCT scans--were associated with reduced total lung capacity and a lesser amount of emphysema. (Funded by the National Institutes of Health and the Parker B. Francis Foundation; ClinicalTrials.gov number, NCT00608764.).

Cell cycle regulatory gene abnormalities are important determinants of leukemogenesis and disease biology in adult acute lymphoblastic leukemia.

PubMed

Stock, W; Tsai, T; Golden, C; Rankin, C; Sher, D; Slovak, M L; Pallavicini, M G; Radich, J P; Boldt, D H

2000-04-01

To test the hypothesis that cell cycle regulatory gene abnormalities are determinants of clinical outcome in adult acute lymphoblastic leukemia (ALL), we screened lymphoblasts from patients on a Southwest Oncology Group protocol for abnormalities of the genes, retinoblastoma (Rb), p53, p15(INK4B), and p16(INK4A). Aberrant expression occurred in 33 (85%) patients in the following frequencies: Rb, 51%; p16(INK4A), 41%; p53, 26%. Thirteen patients (33%) had abnormalities in 2 or more genes. Outcomes were compared in patients with 0 to 1 abnormality versus patients with multiple abnormalities. The 2 groups did not differ in a large number of clinical and laboratory characteristics. The CR rates for patients with 0 to 1 and multiple abnormalities were similar (69% and 54%, respectively). Patients with 0 to 1 abnormality had a median survival time of 25 months (n = 26; 95% CI, 13-46 months) versus 8 months (n = 13; 95% CI, 4-12 months) for those with multiple abnormalities (P <.01). Stem cells (CD34+lin-) were isolated from adult ALL bone marrows and tested for p16(INK4A) expression by immunocytochemistry. In 3 of 5 patients lymphoblasts and sorted stem cells lacked p16(INK4A) expression. In 2 other patients only 50% of sorted stem cells expressed p16(INK4A). By contrast, p16 expression was present in the CD34+ lin- compartment in 95% (median) of 9 patients whose lymphoblasts expressed p16(INK4A). Therefore, cell cycle regulatory gene abnormalities are frequently present in adult ALL lymphoblasts, and they may be important determinants of disease outcome. The presence of these abnormalities in the stem compartment suggests that they contribute to leukemogenesis. Eradication of the stem cell subset harboring these abnormalities may be important to achieve cure.

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

PubMed

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

2017-11-01

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

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

PubMed

Borochowitz, Z; Langer, L O; Gruber, H E; Lachman, R; Katznelson, M B; Rimoin, D L

1993-02-01

We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

LONG-TERM VISUAL OUTCOMES IN EXTREMELY LOW-BIRTH-WEIGHT CHILDREN (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS)

PubMed Central

Spencer, Rand

2006-01-01

Purpose The goal is to analyze the long-term visual outcome of extremely low-birth-weight children. Methods This is a retrospective analysis of eyes of extremely low-birth-weight children on whom vision testing was performed. Visual outcomes were studied by analyzing acuity outcomes at ≥36 months of adjusted age, correlating early acuity testing with final visual outcome and evaluating adverse risk factors for vision. Results Data from 278 eyes are included. Mean birth weight was 731g, and mean gestational age at birth was 26 weeks. 248 eyes had grating acuity outcomes measured at 73 ± 36 months, and 183 eyes had recognition acuity testing at 76 ± 39 months. 54% had below normal grating acuities, and 66% had below normal recognition acuities. 27% of grating outcomes and 17% of recognition outcomes were ≤20/200. Abnormal early grating acuity testing was predictive of abnormal grating (P < .0001) and recognition (P = .0001) acuity testing at ≥3 years of age. A slower-than-normal rate of early visual development was predictive of abnormal grating acuity (P < .0001) and abnormal recognition acuity (P < .0001) at ≥3 years of age. Eyes diagnosed with maximal retinopathy of prematurity in zone I had lower acuity outcomes (P = .0002) than did those with maximal retinopathy of prematurity in zone II/III. Eyes of children born at ≤28 weeks gestational age had 4.1 times greater risk for abnormal recognition acuity than did those of children born at >28 weeks gestational age. Eyes of children with poorer general health after premature birth had a 5.3 times greater risk of abnormal recognition acuity. Conclusions Long-term visual development in extremely low-birth-weight infants is problematic and associated with a high risk of subnormal acuity. Early acuity testing is useful in identifying children at greatest risk for long-term visual abnormalities. Gestational age at birth of ≤ 28 weeks was associated with a higher risk of an abnormal long-term outcome. PMID:17471358

A Practice-Oriented Bifurcation Analysis for Pulse Energy Converters. Part 2: An Operating Regime

NASA Astrophysics Data System (ADS)

Kolokolov, Yury; Monovskaya, Anna

The paper continues the discussion on bifurcation analysis for applications in practice-oriented solutions for pulse energy conversion systems (PEC-systems). Since a PEC-system represents a nonlinear object with a variable structure, then the description of its dynamics evolution involves bifurcation analysis conceptions. This means the necessity to resolve the conflict-of-units between the notions used to describe natural evolution (i.e. evolution of the operating process towards nonoperating processes and vice versa) and the notions used to describe a desirable artificial regime (i.e. an operating regime). We consider cause-effect relations in the following sequence: nonlinear dynamics-output signal-operating characteristics, where these characteristics include stability and performance. Then regularities of nonlinear dynamics should be translated into regularities of the output signal dynamics, and, after, into an evolutional picture of each operating characteristic. In order to make the translation without losses, we first take into account heterogeneous properties within the structures of the operating process in the parametrical (P-) and phase (X-) spaces, and analyze regularities of the operating stability and performance on the common basis by use of the modified bifurcation diagrams built in joint PX-space. Then, the correspondence between causes (degradation of the operating process stability) and effects (changes of the operating characteristics) is decomposed into three groups of abnormalities: conditionally unavoidable abnormalities (CU-abnormalities); conditionally probable abnormalities (CP-abnormalities); conditionally regular abnormalities (CR-abnormalities). Within each of these groups the evolutional homogeneity is retained. After, the resultant evolution of each operating characteristic is naturally aggregated through the superposition of cause-effect relations in accordance with each of the abnormalities. We demonstrate that the practice-oriented bifurcation analysis has fundamentally specific purposes and tools, like for the computer-based bifurcation analysis and the experimental bifurcation analysis. That is why, from our viewpoint, it seems to be a rather novel direction in the general context of bifurcation analysis conceptions. We believe that the discussion could be interesting to pioneer research intended for the design of promising systems of pulse energy conversion.

Color blindness among multiple sclerosis patients in Isfahan.

PubMed

Shaygannejad, Vahid; Golabchi, Khodayar; Dehghani, Alireza; Ashtari, Fereshteh; Haghighi, Sepehr; Mirzendehdel, Mahsa; Ghasemi, Majid

2012-03-01

Multiple sclerosis (MS) is a disease of young and middle aged individuals with a demyelinative axonal damage nature in central nervous system that causes various signs and symptoms. As color vision needs normal function of optic nerve and macula, it is proposed that MS can alter it via influencing optic nerve. In this survey, we evaluated color vision abnormalities and its relationship with history of optic neuritis and abnormal visual evoked potentials (VEPs) among MS patients. The case group was included of clinically definitive MS patients and the same number of normal population was enrolled as the control group. Color vision of all the participants was evaluated by Ishihara test and then visual evoked potential (VEPs) and history of optic neuritis (ON) was assessed among them. Then, frequency of color blindness was compared between the case and the control group. Finally, color blinded patients were compared to those with the history of ON and abnormal VEPs. 63 MS patients and the same number of normal populations were enrolled in this study. 12 patients had color blindness based on the Ishihara test; only 3 of them were among the control group, which showed a significant different between the two groups (P = 0.013). There was a significant relationship between the color blindness and abnormal VEP (R = 0.53, P = 0.023) but not for the color blindness and ON (P = 0.67). This study demonstrates a significant correlation between color blindness and multiple sclerosis including ones with abnormal prolonged VEP latencies. Therefore, in individuals with acquired color vision impairment, an evaluation for potentially serious underlying diseases like MS is essential.