Sample records for smith-lemli-opitz syndrome diagnosed

  1. Smith-Lemli-Opitz-syndrome

    PubMed Central

    Gedam, Rachana; Shah, Ira; Ali, Uma; Ohri, Alpana

    2012-01-01

    Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase. We describe one such child with Smith-Lemli-Opitz syndrome. This child had clinical features similar to Smith-Lemli-Opitz syndrome like facial dysmorphism and cardiac and renal anomalies with failure to thrive. PMID:23162303

  2. Genetics Home Reference: Smith-Lemli-Opitz syndrome

    MedlinePLUS

    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Smith-Lemli-Opitz syndrome On this page: Description Genetic ... names Glossary definitions Reviewed July 2007 What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Opitz syndrome is ...

  3. The Smith-Lemli-Opitz syndrome

    Microsoft Academic Search

    Richard I Kelley; Raoul C M Hennekam

    2000-01-01

    The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with

  4. The Smith-Lemli-Opitz syndrome

    PubMed Central

    Kelley, R.; Hennekam, R.

    2000-01-01

    The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.???Keywords: Smith-Lemli-Opitz syndrome; cholesterol metabolism; 7-dehydrocholesterol reductase; clinical history; management PMID:10807690

  5. Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas

    PubMed Central

    Demirdöven, Mehmet; Yazgan, Hamza; Korkmaz, Mevlit; Gebe?çe, Arzu; Tonbul, Alparslan

    2014-01-01

    Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. PMID:25165593

  6. Brothers with Smith-Lemli-Opitz syndrome.

    PubMed

    Kelly, Maria N; Tuli, Sanjeev Y; Tuli, Sonal S; Stern, Mori A; Giordano, Beverly P

    2015-01-01

    Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers. PMID:24954735

  7. Growth Charts for Individuals with Smith-Lemli-Opitz Syndrome

    PubMed Central

    Lee, Ryan W.Y.; McGready, John; Conley, Sandra K.; Yanjanin, Nicole M.; Nowaczyk, Ma?gorzata J.M.; Porter, Forbes D.

    2012-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a rare multiple congenital anomaly neurodevelopmental syndrome of impaired cholesterol synthesis. Growth restriction and developmental delay are very common clinical manifestations of SLOS. The degree, etiology, and consequences of growth restriction in SLOS remain an area of limited knowledge to the scientific community. There have been no studies describing the growth parameters and providing reference growth charts for individuals with SLOS. Our longitudinal data from 78 patients between the ages of 0.1 and 16 years with SLOS shows a growth restriction of about 2 standard deviations below the Centers for Disease Control (CDC) norms for age. This study represents comprehensive anthropometric data from the largest cohort available, and proposes growth charts for widespread use in the management and study of individuals with SLOS. PMID:22615010

  8. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr. [Univ. of Kansas, Kansas City, KS (United States)] [and others] [Univ. of Kansas, Kansas City, KS (United States); and others

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  9. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome

    SciTech Connect

    Weinhofer, Isabelle [Center for Brain Research, Medical University of Vienna, Vienna (Austria); Kunze, Markus [Center for Brain Research, Medical University of Vienna, Vienna (Austria); Stangl, Herbert [Department of Medical Chemistry, Medical University of Vienna, Vienna (Austria); Porter, Forbes D. [National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD (United States); Berger, Johannes [Center for Brain Research, Medical University of Vienna, Vienna (Austria)]. E-mail: johannes.berger@meduniwien.ac.at

    2006-06-23

    Smith-Lemli-Opitz syndrome (SLOS), caused by 7-dehydrocholesterol-reductase (DHCR7) deficiency, shows variable severity independent of DHCR7 genotype. To test whether peroxisomes are involved in alternative cholesterol synthesis, we used [1-{sup 14}C]C24:0 for peroxisomal {beta}-oxidation to generate [1-{sup 14}C]acetyl-CoA as cholesterol precursor inside peroxisomes. The HMG-CoA reductase inhibitor lovastatin suppressed cholesterol synthesis from [2-{sup 14}C]acetate and [1-{sup 14}C]C8:0 but not from [1-{sup 14}C]C24:0, implicating a peroxisomal, lovastatin-resistant HMG-CoA reductase. In SLOS fibroblasts lacking DHCR7 activity, no cholesterol was formed from [1-{sup 14}C]C24:0-derived [1-{sup 14}C]acetyl-CoA, indicating that the alternative peroxisomal pathway also requires this enzyme. Our results implicate peroxisomes in cholesterol biosynthesis but provide no link to phenotypic variation in SLOS.

  10. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

    PubMed Central

    Witsch-Baumgartne..., M; Gruber, M; Kraft, H; Rossi, M; Clayton, P; Giros, M; Haas, D; Kelley, R; Krajewska-Walasek, M; Utermann, G

    2004-01-01

    Background: Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death. Smith-Lemli-Opitz syndrome is caused by mutations in the ?7 sterol-reductase gene (DHCR7; EC 1.3.1.21), which impair endogenous cholesterol biosynthesis and make the growing embryo dependent on exogenous (maternal) sources of cholesterol. We have investigated whether apolipoprotein E, a major component of the cholesterol transport system in human beings, is a modifier of the clinical severity of Smith-Lemli-Opitz syndrome. Method: Common apo E, DHCR7, and LDLR genotypes were determined in 137 biochemically characterised patients with Smith-Lemli-Opitz syndrome and 59 of their parents. Results: There was a significant correlation between patients' clinical severity scores and maternal apo E genotypes (p = 0.028) but not between severity scores and patients' or paternal apo E genotypes. In line with their effects on serum cholesterol levels, the maternal apo ?2 genotypes were associated with a severe Smith-Lemli-Opitz syndrome phenotype, whereas apo E genotypes without the ?2 allele were associated with a milder phenotype. The correlation of maternal apo E genotype with disease severity persisted after stratification for DHCR7 genotype. There was no association of Smith-Lemli-Opitz syndrome severity with LDLR gene variation. Conclusions: These results suggest that the efficiency of cholesterol transport from the mother to the embryo is affected by the maternal apo E genotype and extend the role of apo E and its disease associations to modulation of embryonic development and malformations. PMID:15286151

  11. Adrenal function in Smith-Lemli-Opitz Syndrome

    PubMed Central

    Bianconi, Simona E; Conley, Sandra K; Keil, Meg F; Sinaii, Ninet; Rother, Kristina I; Porter, Forbes D; Stratakis, Constantine A

    2012-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol and related metabolites. The SLOS clinical spectrum ranges from multiple major malformations to a mild phenotype with dysmorphic features, intellectual disability and a specific behavioral presentation. Several cases of SLOS with adrenal insufficiency have been described. We performed ovine corticotropin (oCRH) testing in 35 SLOS patients and 16 age- and gender-matched controls. We reviewed prior ACTH stimulation tests of our SLOS patients (19 of 35 available) and reviewed ACTH stimulation tests from additional 10 other SLOS patients. Results from oCRH testing showed that patients with SLOS had significantly higher ACTH baseline values than healthy controls (24.8 ± 15.3 pg/mL vs. 17.8 ± 7.5 pg/mL, p=0.034). However, no statistically significant differences were noted for peak ACTH values (74.4 ± 35.0 pg/mL vs. 64.0 ± 24.9 pg/mL, p=0.303) and for baseline (14.2 ± 7.8 mcg/dL vs. 14.2 ± 6.3 mcg/dL, p=0.992) and peak cortisol values (28.2 ± 7.9 mcg/dL vs. 24.8 ± 8.1 mcg/dL, p=0.156). The area-under-the-curve (AUC) was not significantly different in SLOS patients compared to controls for both ACTH (250.1 ± 118.7 pg/mL vs. 195.3 ± 96.6 pg/mL, p=0.121) as well as cortisol secretion (83.1 ± 26.1 mcg/dL vs. 77.8 ± 25.9 mcg/dL, p=0.499). ACTH stimulation test was normal in 28 of 29 tests. The individual with the abnormal ACTH stimulation test had a normal oCRH test during the same evaluation. The slightly increased baseline ACTH level seen during oCRH testing may be due to compensated mild adrenocortical insufficiency. However, we were able to show that our cohort affected with SLOS had an adequate stress response and that in mild to moderate cases of SLOS stress steroid coverage should not be required. PMID:21990131

  12. Cholesterol Deficit in Autism: Insights from Smith–Lemli–Opitz Syndrome

    Microsoft Academic Search

    Alka Aneja; Elaine Tierney

    \\u000a Cholesterol is necessary for neuroactive steroid production, growth of myelin membranes, and normal embryonic and fetal development.\\u000a It also modulates the oxytocin receptor, as well as ligand activity and G-protein coupling of the serotonin-1A receptor. A\\u000a deficit of cholesterol may perturb these biological processes and thereby contribute to autism spectrum disorders (ASD), as\\u000a observed in Smith–Lemli–Opitz syndrome (SLOS) and some

  13. Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

    PubMed Central

    Balogh, I.; Koczok, K.; Szabó, G.P.; Török, O.; Hadzsiev, K.; Csábi, G.; Balogh, L.; Dzsudzsák, E.; Ajzner, É.; Szabó, L.; Csákváry, V.; Oláh, A.V.

    2012-01-01

    Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964–1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified. PMID:23293579

  14. [Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case].

    PubMed

    Lima-Martínez, Marcos M; Zerpa, José; Gil, Victor

    2014-09-01

    The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder due to an abnormal cholesterol synthesis. It was first described by Smith, Lemli and Opitz in 1964. Many cases of SLOS have been described since then, leading to the recognition as a relatively common malformation syndrome. Affected individuals have dysmorphism, microcephaly, multiple congenital malformations, mental retardation, aggressiveness and hyperactivity. The severity of physical defects correlates with the severity of the cholesterol deficiency, which is caused by an abnormally low activity of 7-dehydrocholesterol reductase, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. The occurrence of hypothyroidism in association with SLOS is very unusual. We describe the first Venezuelan case in which both anomalies are associated. PMID:25272525

  15. Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

    PubMed Central

    Svoboda, Melissa D.; Christie, Jill M.; Eroglu, Yasemen; Freeman, Kurt A.; Steiner, Robert D.

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies and surgical interventions, as well as directions for future therapies and treatment research. PMID:23042642

  16. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome

    SciTech Connect

    Hyett, J.A.; Clayton, P.T.; Moscosco, G.; Nicolaides, K.H. [Kings College Hospital Medical School, London (United Kingdom)

    1995-09-25

    Routine ultrasound examination at 11 weeks of gestation in a woman with no family history of genetic disease demonstrated increased accumulation of fluid in the fetal nuchal region. In view of the association of this defect with chromosomal abnormalities, fetal karyotyping was performed by chorion villus sampling and this demonstrated a normal 46,XY karyotype. Subsequent scans showed resolution of the nuchal fluid, and at the 20-week scan the fetal genitalia appeared to be female. Fetal blood sampling confirmed a normal male karyotype and fetoscopy confirmed the presence of female external genitalia. The parents elected to terminate the pregnancy, and postmortem findings were indicative of Smith-Lemli-Opitz syndrome. This was confirmed by the finding of increased levels of 7-dehydrocholesterol in cultured skin fibroblasts. 11 refs., 2 figs., 1 tab.

  17. Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

    Microsoft Academic Search

    Anuradha S. Pappu; William E. Connor; Louise S. Merkens; Julia M. Jordan; Jennifer A. Penfield; D. Roger Illingworth; Robert D. Steiner

    2006-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an inher- ited autosomal recessive cholesterol deficiency disorder. Our studies haveshownthat inSLOSchildren,urinary meva- lonate excretion is normal and reflects hepatic HMG-CoA reductase activity but not ultimate sterol synthesis. Hence, we hypothesized that in SLOS there may be increased di- version of mevalonate to nonsterol isoprenoid synthesis. To test our hypothesis, we measured urinary dolichol and ubiquinone,

  18. Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

    Microsoft Academic Search

    M. L. Cardoso; A. Balreira; E. Martins; L. Nunes; A. Cabral; M. Marques; M. Reis Lima; J. S. Marques; A. Medeira; I. Cordeiro; S. Pedro; M. C. Mota; C. Dionisi-Vici; F. M. Santorelli; C. A. J. M. Jakobs; P. T. Clayton; L. Vilarinho

    2005-01-01

    Smith–Lemli–Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital anomalies, and increased levels of 7-dehydrocholesterol (7-DHC) in body tissues and fluids. SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. In our investigation, we screened 682 dysmorphic\\/mentally retarded Portuguese patients for abnormal

  19. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S

    PubMed Central

    Liu, Wei; Xu, Libin; Lamberson, Connor R.; Merkens, Louise S.; Steiner, Robert D.; Elias, Ellen R.; Haas, Dorothea; Porter, Ned A.

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3?-hydroxysterol-?7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients with this syndrome. Both 7- and 8-DHC are susceptible to peroxidation reactions, and several biologically active DHC oxysterols are found in cell and animal models of SLOS. Ex vivo oxidation of DHCs can be a confounding factor in the analysis of these sterols and their esters, and we developed HPLC/MS methods that permit the direct analysis of cholesterol, 7-DHC, 8-DHC, and their esters in human plasma, thus avoiding ex vivo oxidation. In addition, three oxysterols were classified as endogenously formed products by the use of an isotopically-labeled 7-DHC (d7-7-DHC) added to the sample before workup, followed by MS analysis of products formed. Analysis of 17 SLOS plasma samples shows that 8-DHC linoleate correlates better with the SLOS severity score of the patients than other sterols or metabolites, including cholesterol and 7-DHC. Levels of 7-ketocholesterol also correlate with the SLOS severity score. 8-DHC esters should have utility as surrogate markers of severity in SLOS for prognostication and as endpoints in clinical trials. PMID:23072947

  20. Localization of a translocation breakpoint involved in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Alley, T.L.; Gray, B.A.; Lee, S. [Univ. of Florida, Gainesville, FL (United States)] [and others

    1994-09-01

    Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomaly/mental retardation syndrome, with features including toe syndactyly, genital anomalies, unusual facies, and occasional organ malformations. The gene(s) for this autosomal recessive disorder has not been mapped. Recent biochemical studies suggest that the defect may involve the penultimate step in cholesterol synthesis, as patients have low serum cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. However, the enzyme putatively involved (7-DHC reductase) has not been isolated. We identified an SLOS patient with a de novo balanced chromosome translocation [t(7;20)(q32.1;q13.2)], and we propose that the translocation interrupts one of the patient`s SLOS alleles. We are pursuing positional cloning to identify the SLOS gene. Using fluorescence in situ hybridization (FISH), we recently identified a chromosome 7 yeast artificial chromosome (YAC) that spans the breakpoint and places it onto physical and genetic maps. We are in the process of narrowing this region via overlapping YACs and YAC subclones, from which we will isolate candidate cDNAs. Any candidate gene disrupted by the translocation and mutated on the other allele will be proven to be the SLOS gene. Functional analysis of an SLOS cDNA may also determine its relationship to cholesterol metabolism and the observed biochemical abnormalities.

  1. Decreased Cerebral Spinal Fluid Neurotransmitter Levels in Smith-Lemli-Opitz Syndrome

    PubMed Central

    Sparks, S.E.; Wassif, C.A.; Goodwin, H.; Conley, S.K.; Lanham, D.C.; Kratz, L.E.; Hyland, K.; Gropman, A.; Tierney, E.; Porter, F.D.

    2014-01-01

    Summary Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome with cognitive impairment and a distinct behavioral phenotype that includes autistic features. SLOS is caused by a defect in 3?-hydroxysterol ?7-reductase which leads to decreased cholesterol levels and elevated cholesterol precursors, specifically 7- and 8-dehydrocholesterol. However, the pathological processes contributing to the neurological abnormalities in SLOS have not been defined. In view of prior data suggesting defects in SLOS in vesicular release and given the association of altered serotonin metabolism with autism, we were interested in measuring neurotransmitter metabolite levels in SLOS to assess their potential to be used as biomarkers in therapeutic trials. We measured cerebral spinal fluid levels of serotonin and dopamine metabolites, 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) respectively, in 21 SLOS subjects. Results were correlated with the SLOS anatomical severity score, Aberrant Behavior Checklist scores and concurrent sterol biochemistry. Cerebral spinal fluid (CSF) levels of both 5HIAA and HVA were significantly reduced in SLOS subjects. In individual patients, the levels of both 5HIAA and HVA were reduced to a similar degree. CSF neurotransmitter metabolite levels did not correlate with either CSF sterols or behavioral measures. This is the first study demonstrating decreased levels of CSF neurotransmitter metabolites in SLOS. We propose that decreased levels of neurotransmitters in SLOS are caused by a sterol-related defect in synaptic vesicle formation and that CSF 5HIAA and HVA will be useful biomarkers in development of future therapeutic trials. PMID:24500076

  2. Challenging Behavior in Smith-Lemli-Opitz Syndrome: Initial Test of Biobehavioral Influences

    PubMed Central

    Freeman, Kurt A.; Eagle, Rose; Merkens, Louise S.; Sikora, Darryn; Pettit-Kekel, Kersti; Nguyen-Driver, Mina; Steiner, Robert D.

    2013-01-01

    Objective To study challenging behavior (destruction, aggression, self-injury, stereotypy) in children with Smith-Lemli-Opitz syndrome (SLOS) using a biobehavioral model that helps distinguish biological from socially mediated variables influencing the behavior. Background SLOS is an autosomal-recessive syndrome of multiple malformations and intellectual disability resulting from a genetic error in cholesterol synthesis in all cells and tissues, including brain. The exact cause of the challenging behavior in SLOS is unclear, but defective brain cholesterol synthesis may contribute. Because the precise genetic and biochemical etiology of SLOS is known, this disorder is a good model for studying biological causes of challenging behavior. Method In a preliminary application of a biobehavioral model, we studied the association between cholesterol levels (as a biochemical indicator of disease severity) and behavior subtype (“biological” vs “learned”) in 13 children with SLOS. Parents completed a questionnaire that categorized challenging behavior as influenced primarily by social or nonsocial (thus, presumably biological) factors. Results The severity of the cholesterol synthesis defect correlated significantly with behavior subtype classification for 1 of 2 challenging behaviors. Greater severity of the cholesterol synthesis defect was associated with behavior being classified as primarily influenced by biological factors. Conclusion The interplay between challenging behavior and defective cholesterol synthesis in SLOS may help explain biological influences on the behavior. Our findings have implications for research on the effectiveness of behavioral and medical treatments for behavioral difficulties in SLOS and other neurodevelopmental disorders. PMID:23538569

  3. Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

    PubMed

    Sparks, S E; Wassif, C A; Goodwin, H; Conley, S K; Lanham, D C; Kratz, L E; Hyland, K; Gropman, A; Tierney, E; Porter, F D

    2014-05-01

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome with cognitive impairment and a distinct behavioral phenotype that includes autistic features. SLOS is caused by a defect in 3?-hydroxysterol ?(7)-reductase which leads to decreased cholesterol levels and elevated cholesterol precursors, specifically 7- and 8-dehydrocholesterol. However, the pathological processes contributing to the neurological abnormalities in SLOS have not been defined. In view of prior data suggesting defects in SLOS in vesicular release and given the association of altered serotonin metabolism with autism, we were interested in measuring neurotransmitter metabolite levels in SLOS to assess their potential to be used as biomarkers in therapeutic trials. We measured cerebral spinal fluid levels of serotonin and dopamine metabolites, 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) respectively, in 21 SLOS subjects. Results were correlated with the SLOS anatomical severity score, Aberrant Behavior Checklist scores and concurrent sterol biochemistry. Cerebral spinal fluid (CSF) levels of both 5HIAA and HVA were significantly reduced in SLOS subjects. In individual patients, the levels of both 5HIAA and HVA were reduced to a similar degree. CSF neurotransmitter metabolite levels did not correlate with either CSF sterols or behavioral measures. This is the first study demonstrating decreased levels of CSF neurotransmitter metabolites in SLOS. We propose that decreased levels of neurotransmitters in SLOS are caused by a sterol-related defect in synaptic vesicle formation and that CSF 5HIAA and HVA will be useful biomarkers in development of future therapeutic trials. PMID:24500076

  4. Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome

    PubMed Central

    Chang, Shaohua; Ren, Gongyi; Steiner, Robert D.; Merkens, Louise; Roullet, Jean-Baptiste; Korade, Zeljka; DiMuzio, Paul J.; Tulenko, Thomas N.

    2014-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. Herein we show that dermal fibroblasts obtained from SLOS children display increased basal levels of LC3B-II, the hallmark protein signifying increased autophagy. The elevated LC3B-II is accompanied by increased beclin-1 and cellular autophagosome content. We also show that the LC3B-II concentration in SLOS cells is directly proportional to the cellular concentration of 7DHC, suggesting that the increased autophagy is caused by 7DHC accumulation secondary to defective DHCR7. Further, the increased basal LC3B-II levels were decreased significantly by pretreating the cells with antioxidants implicating a role for oxidative stress in elevating autophagy in SLOS cells. Considering the possible source of oxidative stress, we examined mitochondrial function in the SLOS cells using JC-1 assay and found significant mitochondrial dysfunction compared to mitochondria in control cells. In addition, the levels of PINK1 which targets dysfunctional mitochondria for removal by the autophagic pathway are elevated in SLOS cells, consistent with mitochondrial dysfunction as a stimulant of mitophagy in SLOS. This suggests the increase in autophagic activity may be protective, i.e., to remove dysfunctional mitochondria. Taken together, these studies are consistent with a role for mitochondrial dysfunction leading to increased autophagy in SLOS pathophysiology. PMID:25405082

  5. Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome?

    PubMed Central

    Fliesler, Steven J

    2014-01-01

    Smith-Lemli-Opitz Syndrome (SLOS) is a recessive hereditary disease caused by an enzymatic defect in the biosynthesis of cholesterol. To date, the therapeutic standard of care for this disease has been cholesterol supplementation therapy. However, the efficacy of this treatment is extremely variable and, in many if not most cases, is poor. Results of studies using animal models of SLOS have suggested that cholesterol deficiencyand/or the aberrant accumulation of the immediate precursor of cholesterol (7-dehydrocholesterol (7DHC)), per se, may not be the sole culprits in the pathobiology of this disease. Rather, cytotoxic oxysterol by-products derived specifically from 7DHC are thought to be additional, significant, causative players in the disease mechanism. Based in large measure upon such studies, a recent clinical trial, comparing the therapeutic efficacyof cholesterol supplementation alone vs. combined cholesterol-antioxidant supplementation in SLOS patients, has provided extremely encouraging results that tend to both validate the proposed role of oxysterols in the pathobiology of SLOS as well as indicate an improved treatment for this and related diseases. PMID:24533230

  6. Hepatic Isoprenoid Metabolism in a Rat Model of Smith-Lemli-Opitz Syndrome

    PubMed Central

    Keller, R. Kennedy; Mitchell, David A.; Goulah, Christopher C.

    2013-01-01

    Elevated (4 to 7-fold) levels of urinary dolichol and coenzyme Q and substantially longer chain lengths for urinary dolichols have been reported in Smith-Lemli-Opitz Syndrome (SLOS) patients, compared to normal subjects. We investigated the possibility of similar alterations in hepatic, nonsterol isoprenoids in a well-established rat model of SLOS. In this model, the ratio of 7-dehydrocholesterol (7DHC) to cholesterol (Chol) in serum approached 15:1; however, total sterol mass in serum decreased by >80 %. Livers from treated rats had 7DHC/Chol ratios of ~32:1, but the steady-state levels of total sterols were >40 % those of livers from age-matched (3-month-old) control animals. No significant differences in the levels of LDL receptor or HMG-CoA reductase were observed. The levels of dolichol and coenzyme Q were elevated only modestly (by 64 and 31 %, respectively; p < 0.05, N = 6) in the livers of the SLOS rat model compared to controls; moreover, the chain lengths of these isoprenoids were not different in the two groups. We conclude that hepatic isoprenoid synthesis is marginally elevated in this animal model of SLOS, but without preferential shunting to the nonsterol branches (dolichol and coenzyme Q) of the pathway and without alteration of normal dolichol chain lengths. PMID:23361583

  7. Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.

    PubMed

    Chang, Shaohua; Ren, Gongyi; Steiner, Robert D; Merkens, Louise; Roullet, Jean-Baptiste; Korade, Zeljka; DiMuzio, Paul J; Tulenko, Thomas N

    2014-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. Herein we show that dermal fibroblasts obtained from SLOS children display increased basal levels of LC3B-II, the hallmark protein signifying increased autophagy. The elevated LC3B-II is accompanied by increased beclin-1 and cellular autophagosome content. We also show that the LC3B-II concentration in SLOS cells is directly proportional to the cellular concentration of 7DHC, suggesting that the increased autophagy is caused by 7DHC accumulation secondary to defective DHCR7. Further, the increased basal LC3B-II levels were decreased significantly by pretreating the cells with antioxidants implicating a role for oxidative stress in elevating autophagy in SLOS cells. Considering the possible source of oxidative stress, we examined mitochondrial function in the SLOS cells using JC-1 assay and found significant mitochondrial dysfunction compared to mitochondria in control cells. In addition, the levels of PINK1 which targets dysfunctional mitochondria for removal by the autophagic pathway are elevated in SLOS cells, consistent with mitochondrial dysfunction as a stimulant of mitophagy in SLOS. This suggests the increase in autophagic activity may be protective, i.e., to remove dysfunctional mitochondria. Taken together, these studies are consistent with a role for mitochondrial dysfunction leading to increased autophagy in SLOS pathophysiology. PMID:25405082

  8. Corpus Callosum Measurements Correlate with Developmental Delay in Smith-Lemli-Opitz Syndrome

    PubMed Central

    Lee, Ryan W.Y.; Yoshida, Shoko; Jung, Eun Sol; Mori, Susumu; Baker, Eva H.; Porter, Forbes D.

    2013-01-01

    Background Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation, neurodevelopmental disorder of cholesterol metabolism caused by mutations in 7-dehydrocholesterol reductase (DHCR7). Corpus callosum (CC) malformations and developmental delay are common manifestations of this disorder, but the relationship between the two has not been evaluated. We tested the hypothesis that shorter callosal length and smaller area correlates with higher serum 7-dehydrocholesterol (7DHC) and increased severity of neurodevelopmental delay in a large cohort of SLOS patients. Methods Thirty-six individuals with SLOS (18M/18F) between 0.20 and 12.5 years (mean = 3.9, SD = 3.6) and 36 typically developing controls (18M/18F) between 0.12 and 12.8 years (mean = 4.0, SD = 3.6) were each imaged one time on a 1.5T MR scanner. One mid-sagittal image per study was selected for manual measurement of CC cross-sectional area and length. Gross motor, fine motor, and language developmental quotients, anatomical severity score, and serum sterol levels were assessed with imaging measurements. Results Shorter CC length and smaller area correlated with lower developmental quotient in gross motor and language domains. Furthermore, length and area negatively correlated with a serum 7DHC, 8DHC, sterol ratio, and anatomical severity score, and positively correlated with total cholesterol. The degree of developmental delay ranged from mild to severe, involving all domains. Conclusions For individuals with SLOS, smaller callosal area and length are associated with higher serum 7DHC, anatomic severity, and motor and language delay. These findings suggest the relationship between callosal development, biochemistry, and neurodevelopment may lead to finding predictors of outcome in SLOS. PMID:23859856

  9. Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome

    PubMed Central

    Korade, Zeljka; Xu, Libin; Mirnics, Karoly; Porter, Ned A.

    2013-01-01

    7-Dehydrocholesterol (7-DHC) accumulates in tissues and fluids of patients with Smith-Lemli-Opitz syndrome (SLOS), which is caused by mutations in the gene encoding 3?-hydroxysterol-?7-reductase (DHCR7). We recently reported that 7-DHC is the most reactive lipid molecule toward free radical oxidation (lipid peroxidation) and 14 oxysterols have been identified as products of oxidation of 7-DHC in solution. As the high oxidizability of 7-DHC may lead to systemic oxidative stress in SLOS patients, we report here lipid biomarkers of oxidative stress in a Dhcr7-KO mouse model of SLOS, including oxysterols, isoprostanes (IsoPs), and neuroprostanes (NeuroPs) that are formed from the oxidation of 7-DHC, arachidonic acid and docosahexaenoic acid, respectively. In addition to a previously described oxysterol, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), we provide evidence for the chemical structures of three new oxysterols in the brain and/or liver tissue of Dhcr7-KO mice, two of which were quantified. We find that levels of IsoPs and NeuroPs are also elevated in brain and/or liver tissues of Dhcr7-KO mice relative to matching WT mice. While IsoPs and NeuroPs have been established as a reliable measurement of lipid peroxidation and oxidative stress in vivo, we show that in this genetic SLOS mouse model, 7-DHC-derived oxysterols are present at much higher levels than IsoPs and NeuroPs and thus are better markers of lipid oxidation and related oxidative stress. PMID:22718275

  10. No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome

    PubMed Central

    Roullet, Jean-Baptiste; Merkens, Louise S.; Pappu, Anurhada S.; Jacob, Megan D.; Winter, Rolf; Connor, William E.; Steiner, Robert D.

    2012-01-01

    Summary Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic deficiency in 7-dehydrocholesterol (7-DHC) reductase (EC 1.3.1.21), the last enzyme of the cholesterol synthetic pathway. In SLOS, plasma cholesterol concentration is reduced and immediate precursor concentration (7-DHC) is elevated. Surprisingly, total sterol synthesis is reduced but HMG-CoA reductase activity, a rate-limiting enzyme in cholesterol synthesis is unaltered as judged by normal urinary excretion of mevalonic acid (MVA) (Pappu, 2002). These findings raise the possibility of increased diversion of MVA into the MVA shunt pathway away from sterol synthesis, by activation of the shunt pathway enzymes. To test this hypothesis, we measured the urinary excretion of 3-methylglutaconic acid (U-3MGC), a by-product of the shunt pathway, in 19 mild-to-moderately severely affected SLOS subjects (10 males, 9 females) receiving either a cholesterol-free or a high cholesterol diet, and in 20 age- and sex-matched controls. U-3MGC was similar in SLOS and controls, and was unaffected by dietary cholesterol intake. Further, no change in U-3MGC was observed in a subset of SLOS subjects (n=9) receiving simvastatin. In contrast, U-MVA was reduced by cholesterol supplementation (~54%, p<0.05) and by simvastatin (~50%, p<0.04). There was no correlation between U-3MGC and either plasma sterol concentrations, urinary isoprenoids, or the subjects’ clinical severity score. However U-3MGC was inversely correlated with age (p<0.04) and body weight (p<0.02), and higher in females than in males (~65%, p<0.025). The data show that DHCR7 deficiency does not result in 3MGC accumulation in SLOS and suggest that the MVA shunt pathway is not activated in patients with the condition. PMID:22391996

  11. Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz Syndrome (SLOS)

    PubMed Central

    Korade, Zeljka; Xu, Libin; Harrison, Fiona E.; Ahsen, Refayat; Hart, Sarah E; Folkes, Oakleigh M; Mirnics, Karoly; Porter, Ned A

    2013-01-01

    Background Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis characterized by diminished cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. 7-DHC is highly reactive, giving rise to biologically active oxysterols. Methods 7-DHC-derived oxysterols were measured in fibroblasts from SLOS patients and an in vivo SLOS rodent model using HPLC-MS-MS. Expression of lipid biosynthesis genes was ascertained by qPCR and Western blot. The effects of an antioxidant mixture, vitamin A, coenzyme Q10, vitamin C and vitamin E were evaluated for their potential to reduce formation of 7-DHC oxysterols in fibroblast from SLOS patients. Finally, the effect of maternal feeding of vitamin E enriched diet was ascertained in the brain and liver of newborn SLOS mice. Results In cultured human SLOS fibroblasts the antioxidant mixture led to decreased levels of the 7-DHC-derived oxysterol, DHCEO. Furthermore, gene expression changes in SLOS human fibroblasts were normalized with antioxidant treatment. The active ingredient appeared to be vitamin E, as even at low concentrations, it significantly decreased DHCEO levels. In addition, analyzing a mouse SLOS model revealed that feeding a vitamin E enriched diet to pregnant females led to a decrease in oxysterol formation in brain and liver tissues of the newborn Dhcr7-knockout pups. Conclusions Considering the adverse effects of 7-DHC-derived oxysterols in neuronal and glial cultures, and the positive effects of antioxidants in patient cell cultures and the transgenic mouse model, we believe that preventing formation of 7-DHC oxysterols is critical for countering the detrimental effects of Dhcr7 mutations. PMID:23896203

  12. Brain Magnetic Resonance Imaging Findings in Smith-Lemli-Opitz Syndrome

    PubMed Central

    Lee, Ryan W.Y.; Conley, Sandra K.; Gropman, Andrea; Porter, Forbes D.; Baker, Eva H.

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a neurodevelopmental disorder caused by inborn errors of cholesterol metabolism resulting from mutations in 7-dehydrocholesterol reductase (DHCR7). There are only a few studies describing the brain imaging findings in SLOS. This study examines the prevalence of magnetic resonance imaging (MRI) abnormalities in the largest cohort of patients with SLOS to date. Fifty-five individuals with SLOS (27M, 28F) between age 0.17 years and 25.4 years (mean = 6.2, SD = 5.8) received a total of 173 brain MRI scans (mean = 3.1 per subject) on a 1.5T GE scanner between September, 1998 and December, 2003, or on a 3T Philips scanner between October 2010 and September 2012; all exams were performed at the Clinical Center of the National Institutes of Health. We performed a retrospective review of these imaging studies for both major and minor brain anomalies. Aberrant MRI findings were observed in 53 of 55 (96%) SLOS patients, with abnormalities of the septum pellucidum the most frequent (42/55, 76%) finding. Abnormalities of the corpus callosum were found in 38 of 55 (69%) patients. Other findings included cerebral atrophy, cerebellar atrophy, colpocephaly, white matter lesions, arachnoid cysts, Dandy-Walker variant, and Type I Chiari malformation. Significant correlations were observed when comparing MRI findings with sterol levels and somatic malformations. Individuals with SLOS commonly have anomalies involving the midline and para-midline structures of the brain. Further studies are required to examine the relationship between structural brain abnormalities and neurodevelopmental disability in SLOS. PMID:23918729

  13. Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

    Microsoft Academic Search

    Anuradha S. Pappu; Robert D. Steiner; Sonja L. Connor; Donna P. Flavell; Don S. Lin; Lauren Hatcher; D. Roger Illingworth; William E. Connor

    2002-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by low plasma cholesterol and high 7-dehydrocholesterol (7-DHC). Synthesis of cholesterol and 7-DHC and its metabolites is regulated by HMG-CoA reduc- tase, whose activity can be measured by 24-h excretion of its product mevalonate. We devised a simple, non-invasive method for collecting 24-h urine in our subjects. With a background of a

  14. A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome[S

    PubMed Central

    Liu, Wei; Xu, Libin; Lamberson, Connor; Haas, Dorothea; Korade, Zeljka; Porter, Ned A.

    2014-01-01

    We describe a highly sensitive method for the detection of 7-dehydrocholesterol (7-DHC), the biosynthetic precursor of cholesterol, based on its reactivity with 4-phenyl-1,2,4-triazoline-3,5-dione (PTAD) in a Diels-Alder cycloaddition reaction. Samples of biological tissues and fluids with added deuterium-labeled internal standards were derivatized with PTAD and analyzed by LC-MS. This protocol permits fast processing of samples, short chromatography times, and high sensitivity. We applied this method to the analysis of cells, blood, and tissues from several sources, including human plasma. Another innovative aspect of this study is that it provides a reliable and highly reproducible measurement of 7-DHC in 7-dehydrocholesterol reductase (Dhcr7)-HET mouse (a model for Smith-Lemli-Opitz syndrome) samples, showing regional differences in the brain tissue. We found that the levels of 7-DHC are consistently higher in Dhcr7-HET mice than in controls, with the spinal cord and peripheral nerve showing the biggest differences. In addition to 7-DHC, sensitive analysis of desmosterol in tissues and blood was also accomplished with this PTAD method by assaying adducts formed from the PTAD “ene” reaction. The method reported here may provide a highly sensitive and high throughput way to identify at-risk populations having errors in cholesterol biosynthesis. PMID:24259532

  15. Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome[S

    PubMed Central

    Windsor, Katherine; Genaro-Mattos, Thiago C.; Kim, Hye-Young H.; Liu, Wei; Tallman, Keri A.; Miyamoto, Sayuri; Korade, Zeljka; Porter, Ned A.

    2013-01-01

    Lipid modifications aid in regulating (and misregulating) protein function and localization. However, efficient methods to screen for a lipid's ability to modify proteins are not readily available. We present a strategy to identify protein-reactive lipids and apply it to a neurodevelopmental disorder, Smith-Lemli-Opitz syndrome (SLOS). Alkynyl surrogates were synthesized for polyunsaturated fatty acids, phospholipids, cholesterol, 7-dehydrocholesterol (7-DHC), and a 7-DHC-derived oxysterol. To probe for protein-reactive lipids, we used click chemistry to biotinylate the alkynyl tag and detected the lipid-adducted proteins with streptavidin Western blotting. In Neuro2a cells, the trend in amount of protein adduction followed known rates of lipid peroxidation (7-DHC >> arachidonic acid > linoleic acid >> cholesterol), with alkynyl-7-DHC producing the most adduction among alkynyl lipids. 7-DHC reductase-deficient cells, which cannot properly metabolize 7-DHC, exhibited significantly more alkynyl-7-DHC-protein adduction than control cells. Model studies demonstrated that a 7-DHC peroxidation product covalently modifies proteins. We hypothesize that 7-DHC generates electrophiles that can modify the proteome, contributing to SLOS's complex pathology. These probes and methods would allow for analysis of lipid-modified proteomes in SLOS and other disorders exhibiting 7-DHC accumulation. More broadly, the alkynyl lipid library would facilitate exploration of lipid peroxidation's role in specific biological processes in numerous diseases. PMID:23828810

  16. An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome[S

    PubMed Central

    Xu, Libin; Korade, Zeljka; Rosado, Dale A.; Liu, Wei; Lamberson, Connor R.; Porter, Ned A.

    2011-01-01

    The level of 7-dehydrocholesterol (7-DHC) is elevated in tissues and fluids of Smith-Lemli-Opitz syndrome (SLOS) patients due to defective 7-DHC reductase. Although over a dozen oxysterols have been identified from 7-DHC free radical oxidation in solution, oxysterol profiles in SLOS cells and tissues have never been studied. We report here the identification and complete characterization of a novel oxysterol, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), as a biomarker for 7-DHC oxidation in fibroblasts from SLOS patients and brain tissue from a SLOS mouse model. Deuterated (d7)-standards of 7-DHC and DHCEO were synthesized from d7-cholesterol. The presence of DHCEO in SLOS samples was supported by chemical derivatization in the presence of d7-DHCEO standard followed by HPLC-MS or GC-MS analysis. Quantification of cholesterol, 7-DHC, and DHCEO was carried out by isotope dilution MS with the d7-standards. The level of DHCEO was high and correlated well with the level of 7-DHC in all samples examined (R = 0.9851). Based on our in vitro studies in two different cell lines, the mechanism of formation of DHCEO that involves 5?,6?-epoxycholest-7-en-3?-ol, a primary free radical oxidation product of 7-DHC, and 7-cholesten-3?,5?,6?-triol is proposed. In a preliminary test, a pyrimidinol antioxidant was found to effectively suppress the formation of DHCEO in SLOS fibroblasts. PMID:21402677

  17. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of sonic hedgehog?

    SciTech Connect

    Kelley, R.I. [Johns Hopkins Univ., Baltimore, MD (United States)] [Johns Hopkins Univ., Baltimore, MD (United States); Roessler, E.; Muenke, M. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)] [and others] [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); and others

    1996-12-30

    The RAH/Smith-Lemli-Opitz syndrome (RAH/SLOS) is an autosomal recessive malformation syndrome associated with increased levels of 7-dehydrocholesterol (7-DHC) and a defect of cholesterol biosynthesis at the level of 3{beta}-hydroxy-steroid-{Delta}{sup 7}-reductase (7-DHC reductase). Because rats exposed to inhibitors of 7-DHC reductase during development have a high frequency of holoprosencephaly (HPE), we have undertaken a search for biochemical evidence of RSH/SLOS and other possible defects of sterol metabolism among patients with various forms of HPE. We describe 4 patients, one with semilobar HPE and three others with less complete forms of the HPE sequence, in whom we have made a biochemical diagnosis of RAH/SLOS. The clinical and biochemical spectrum of these and other patients with RAH/SLOS suggests a role of abnormal sterol metabolism in the pathogenesis of their malformations. The association of HPE and RAH/SLOS is discussed in light of the recent discoveries that mutations in the embryonic patterning gene, Sonic Hedgehog (SHH), can cause HPE in humans and that the sonic hedgehog protein product undergoes autoproteolysis to form a cholesterol-modified active product. These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possibly, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems. 37 refs., 1 fig.

  18. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

    PubMed

    Cross, J L; Iben, J; Simpson, C L; Thurm, A; Swedo, S; Tierney, E; Bailey-Wilson, J E; Biesecker, L G; Porter, F D; Wassif, C A

    2015-06-01

    Data from massively parallel sequencing or 'Next Generation Sequencing' of the human exome has reached a critical mass in both public and private databases, in that these collections now allow researchers to critically evaluate population genetics in a manner that was not feasible a decade ago. The ability to determine pathogenic allele frequencies by evaluation of the full coding sequences and not merely a single nucleotide polymorphism (SNP) or series of SNPs will lead to more accurate estimations of incidence. For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome (SLOS), the 7-dehydrocholesterol reductase (DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder. Estimations of the incidence of SLOS have ranged widely from 1:10,000 to 1:70,000 while the carrier frequency has been reported as high as 1 in 30. Using four exome data sets with a total of 17,836 chromosomes, we ascertained a carrier frequency of pathogenic DHRC7 mutations of 1.01%, and predict a SLOS disease incidence of 1/39,215 conceptions. This approach highlights yet another valuable aspect of the exome sequencing databases, to inform clinical and health policy decisions related to genetic counseling, prenatal testing and newborn screening. PMID:24813812

  19. Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.

    PubMed

    Bick, D P; McCorkle, D; Stanley, W S; Stern, H J; Staszak, P; Berkovitz, G D; Meyers, C M; Kelley, R I

    1999-01-01

    A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings suggested Smith Lemli Opitz syndrome (SLO), which was confirmed by a markedly increased amniotic fluid level of 7-dehydrocholesterol. We review the differential diagnosis of apparent sex reversal in a fetus and low maternal serum oestriol level. To further examine the specificity of low maternal oestriol level as a marker for SLO a follow-up study of 12141 pregnancies screened for Down syndrome using three biochemical markers: alpha-fetoprotein, beta-human chorionic gonadotrophin and oestriol was performed. 26 pregnancies had an oestriol level that was 0.25 MoM or less. SLO was not diagnosed clinically in any of the liveborn children ascertained through a low maternal oestriol level. Nine of the pregnancies ended in spontaneous miscarriage. Although the frequency of SLO in pregnancies with low maternal oestriol levels or sex-reversed fetuses is unknown, the diagnosis of SLO should, nevertheless, be considered in both clinical settings. PMID:10073912

  20. Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome*

    PubMed Central

    Tu, Chengjian; Li, Jun; Jiang, Xiaosheng; Sheflin, Lowell G.; Pfeffer, Bruce A.; Behringer, Matthew; Fliesler, Steven J.; Qu, Jun

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is one of the most common recessive human disorders and is characterized by multiple congenital malformations as well as neurosensory and cognitive abnormalities. A rat model of SLOS has been developed that exhibits progressive retinal degeneration and visual dysfunction; however, the molecular events underlying the degeneration and dysfunction remain poorly understood. Here, we employed a well-controlled, ion-current-based approach to compare retinas from the SLOS rat model to retinas from age- and sex-matched control rats (n = 5/group). Retinas were subjected to detergent extraction and subsequent precipitation and on-pellet-digestion procedures and then were analyzed on a long, heated column (75 cm, with small particles) with a 7-h gradient. The high analytical reproducibility of the overall proteomics procedure enabled reliable expression profiling. In total, 1,259 unique protein groups, ?40% of which were membrane proteins, were quantified under highly stringent criteria, including a peptide false discovery rate of 0.4%, with high quality ion-current data (e.g. signal-to-noise ratio ? 10) obtained independently from at least two unique peptides for each protein. The ion-current-based strategy showed greater quantitative accuracy and reproducibility over a parallel spectral counting analysis. Statistically significant alterations of 101 proteins were observed; these proteins are implicated in a variety of biological processes, including lipid metabolism, oxidative stress, cell death, proteolysis, visual transduction, and vesicular/membrane transport, consistent with the features of the associated retinal degeneration in the SLOS model. Selected targets were further validated by Western blot analysis and correlative immunohistochemistry. Importantly, although photoreceptor cell death was validated by TUNEL analysis, Western blot and immunohistochemical analyses suggested a caspase-3-independent pathway. In total, these results provide compelling new evidence implicating molecular changes beyond the initial defect in cholesterol biosynthesis in this retinal degeneration model, and they might have broader implications with respect to the pathobiological mechanism underlying SLOS. PMID:23979708

  1. 7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome

    PubMed Central

    Xu, Libin; Sheflin, Lowell G.; Porter, Ned A.; Fliesler, Steven J.

    2012-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a recessive disease characterized by markedly elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in tissues and fluids of affected individuals, due to defective 3?-hydroxysterol-?7-reductase (Dhcr7). Treatment of Sprague-Dawley rats with AY9944 (an inhibitor of Dhcr7) leads to similar biochemical features as observed in SLOS. Eighteen oxysterols previously have been identified as oxidation products of 7-DHC (most of them distinct from cholesterol (Chol)-derived oxysterols) in solution, in cells, and in brains obtained from Dhcr7-KO mice and AY9944-treated rats, formed either via free radical oxidation (peroxidation) or P450-catalyzed enzymatic oxidation. We report here the identification of five 7-DHC-derived oxysterols, including 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), 4?- and 4?-hydroxy-7-DHC, 24-hydroxy-7-DHC and 7-ketocholesterol (7-kChol, an oxysterol that is normally derived from Chol), in the retinas of AY9944-treated rats by comparing the retention times and mass spectrometric characteristics with corresponding synthetic standards in HPLC-MS analysis. Levels of 4?- and 4?-hydroxy-7-DHC, DHCEO, and 7-kChol were quantified using d7-DHCEO as an internal standard. Among the five oxysterols identified, only 7-kChol was observed in retinas of control rats, but the levels of 7-kChol in retinas of AY9944-rats were >30-fold higher. Intravitreal injection of 7-kChol (0.25 µmol) into a normal rat eye induced panretinal degeneration within one week; by comparison, contralateral (control) eyes injected with vehicle alone exhibited normal histology. These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the retinal degeneration associated with the SLOS rat model and in SLOS patients. PMID:22425966

  2. Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient

    SciTech Connect

    Alley, T.L.; Gray, B.A.; Lee, S.H. [Univ. of Florida College of Medicine, Gainesville, FL (United States)] [and others

    1995-06-01

    Smith-Lemli-Opitz syndrome (SLOS) is a mental retardation/multiple congenital anomaly syndrome. The gene(s) involved has not been mapped or cloned, but, recently, a biochemical abnormality in cholesterol biosynthesis has been shown to occur in most SLOS patients. The defect is suspected to occur in the penultimate step of the cholesterol pathway, involving the enzyme 7-dehydrocholesterol reductase, which has not been isolated. On the basis of the hypothesis that a de novo balanced translocation (t(7;20)(q32.1; q13.2)) in an SLOS patient directly interrupts the SLOS gene, positional cloning techniques are being employed to localize and identify the SLOS gene. We report the identification of a chromosome 7-specific YAC that spans the translocation breakpoint, as detected by FISH. This is the first study narrowing a candidate SLOS region and placing it on physical and genetic maps of the human genome. 19 refs., 2 figs., 1 tab.

  3. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene

    SciTech Connect

    Wallace, M.; Zori, R.T.; Alley, T.; Whidden, E.; Gray, B.A.; Williams, C.A. [Univ. of Florida College of Medicine, Gainesville, FL (United States)

    1994-05-01

    A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels. Chromosomal analysis showed a de novo balanced translocation interpreted as 46,XX,t(7;20)(q32.1;q13.2). We hypothesize that the translocation breakpoint in this case interrupts one SLOS allele and that the other allele at the same locus has a more subtle mutation that was inherited from the other parent. This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mutation at a gene in 7q32. 33 refs., 3 figs., 1 tab.

  4. Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors

    PubMed Central

    Ying, Lee; Matabosch, Xavier; Serra, Montserrat; Watson, Berna; Shackleton, Cedric; Watson, Gordon

    2014-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol. Current therapy employing dietary cholesterol is inadequate. As SLOS is caused by a defect in a single gene, restoring enzyme functionality through gene therapy may be a direct approach for treating this debilitating disorder. In the present study, we first packaged a human DHCR7 construct into adeno-associated virus (AAV) vectors having either type-2 (AAV2) or type-8 (AAV2/8) capsid, and administered treatment to juvenile mice. While a positive response (assessed by increases in serum and liver cholesterol) was seen in both groups, the improvement was greater in the AAV2/8-DHCR7 treated mice. Newborn mice were then treated with AAV2/8-DHCR7 and these mice, compared to mice treated as juveniles, showed higher DHCR7 mRNA expression in liver and a greater improvement in serum and liver cholesterol levels. Systemic treatment did not affect brain cholesterol in any of the experimental groups. Both juvenile and newborn treatments with AAV2/8-DHCR7 resulted in increased rates of weight gain indicating that gene transfer had a positive physiological effect. PMID:25024934

  5. Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

    PubMed Central

    Lanthaler, Barbara; Steichen-Gersdorf, Elisabeth; Kollerits, Barbara; Zschocke, Johannes; Witsch-Baumgartner, Martina

    2013-01-01

    The Smith–Lemli–Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity. SLOS is caused by mutations in the ?7sterol-reductase gene (DHCR7), which disrupt cholesterol biosynthesis. Phenotypic variability of the disease is already known to be associated with maternal apolipoprotein E (ApoE) genotype. The aim of this study was to detect additional modifiers of the SLOS phenotype. We examined the association of SLOS severity with variants in the genes for ApoC-III, lecithin-cholesterol acyltransferase, cholesteryl-ester transfer protein, ATP-binding cassette transporter A1 (ABCA1), and methylene tetrahydrofolate reductase. Our study group included 59 SLOS patients, their mothers, and 49 of their fathers. In addition, we investigated whether ApoE and ABCA1 genotypes are associated with the viability of severe SLOS cases (n=21) caused by two null mutations in the DHCR7 gene. Maternal ABCA1 genotypes show a highly significant correlation with clinical severity in SLOS patients (P=0.007). The rare maternal p.1587Lys allele in the ABCA1 gene was associated with milder phenotypes. ANOVA analysis demonstrated an association of maternal ABCA1 genotypes with severity scores (logarithmised) of SLOS patients of P=0.004. Maternal ABCA1 explains 15.4% (R2) of severity of SLOS patients. There was no association between maternal ApoE genotype and survival of the SLOS fetus carrying two null mutations. Regarding ABCA1 p.Arg1587Lys in mothers of latter SLOS cases, a significant deviation from Hardy–Weinberg equilibrium (HWE) was observed (P=0.005). ABCA1 is an additional genetic modifier in SLOS. Modifying placental cholesterol transfer pathways may be an approach for prenatal therapy of SLOS. PMID:22929031

  6. Analysis by liquid chromatography–mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7?3-5/T93M mouse: A model of Smith–Lemli–Opitz syndrome

    PubMed Central

    Meljon, Anna; Watson, Gordon L.; Wang, Yuqin; Shackleton, Cedric H.L.; Griffiths, William J.

    2014-01-01

    In this study the sterol and oxysterol profile of newborn brain from the Dhcr7?3-5/T93M mouse model of Smith–Lemli–Opitz syndrome (SLOS) has been investigated. This is a viable mouse model which is compound heterozygous containing one null allele and one T93M mutation on Dhcr7. We find the SLOS mouse has reduced levels of cholesterol and desmosterol and increased levels of 7- and 8-dehydrocholesterol and of 7- and 8-dehydrodesmosterol in brain compared to the wild type. The profile of enzymatically formed oxysterols in the SLOS mouse resembles that in the wild type but the level of 24S-hydroxycholesterol, the dominating cholesterol metabolite, is reduced in a similar proportion to that of cholesterol. A number of oxysterols abundant in the SLOS mouse are probably derived from 7-dehydrocholesterol, however, the mechanism of their formation is unclear. PMID:23500538

  7. Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients

    PubMed Central

    Schreiber, John M.; Lanham, Diane C.; Trescher, William H.; Sparks, Susan E.; Wassif, Christopher A.; Caffo, Brian S.; Porter, Forbes D.; Tierney, Elaine; Gropman, Andrea L.

    2014-01-01

    Objective: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity. Methods: In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4–17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms. Results: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the “IED” group (according to Autism Diagnostic Observation Schedule–2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity. Conclusions: Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures. PMID:24920862

  8. The short arm deletion syndrome of chromosome 4 (4p- syndrome).

    PubMed

    Zellweger, H; Bardach, J; Bordwell, J; Williams, K

    1975-01-01

    Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5. PMID:1119985

  9. Polydactyly

    MedlinePLUS

    Asphyxiating thoracic dystrophy Carpenter syndrome Ellis-van Creveld syndrome (chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Trisomy 13

  10. Gitelman's syndrome first diagnosed as Bartter's syndrome.

    PubMed

    Tsuchiya, H; Kamoi, K; Soda, S; Sasaki, H; Kobayashi, K; Hayashi, M

    2001-10-01

    A 29-year-old man, who had been treated with potassium, spironolactone and indomethacin for over 9 years, was admitted because of nausea, vomiting, diarrhea and tetany manifestation. At the age of 20, he had been diagnosed as having Bartter's syndrome according to the criteria of the Japanese Ministry of Health and Welfare. Findings on admission were hypokalemia, hypomagnesemia and hypocalciuria. Renal distal fractional reabsorption rates of sodium, chloride and calcium were markedly decreased by administration of furosemide but there was no obvious change with administration of thiazide. These findings indicate that the patient had Gitelman's syndrome rather than Bartter's syndrome. PMID:11688824

  11. DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemi-Opitz Syndrome model

    PubMed Central

    Xu, Libin; Mirnics, Karoly; Bowman, Aaron B.; Liu, Wei; Da, Jennifer; Porter, Ned; Korade, Zeljka

    2013-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7-dehydrocholesterol (7-DHC) in the brain tissue and blood of the SLOS patients. The objective of this study was to determine the consequences of the accumulation of an immediate cholesterol precursor, 7-DHC and its oxysterol metabolite, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), in the brain tissue of Dhcr7-KO mouse, a model for SLOS. We found that cholesterol, 7-DHC and DHCEO show region-specific distribution, suggesting that the midbrain and the cortex are the primary sites of vulnerability. We also report that neurons are ten fold more susceptible to a 7-DHC-derived oxysterol mixture than glial cells, and that DHCEO accelerates differentiation and arborization of cortical neurons. The overall results suggest that 7-DHC oxidative metabolites are critical contributors to altered neural development in SLOS, and that antioxidant supplementation may be extremely valuable for the treatment of this devastating disease. PMID:22182693

  12. Methods of diagnosing alagille syndrome

    DOEpatents

    Li, Linheng; Hood, Leroy; Krantz, Ian D.; Spinner, Nancy B.

    2004-03-09

    The present invention provides an isolated polypeptide exhibiting substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the polypeptide does not have the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. The invention further provides an isolated nucleic acid molecule containing a nucleotide sequence encoding substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the nucleotide sequence does not encode the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. Also provided herein is a method of inhibiting differentiation of hematopoietic progenitor cells by contacting the progenitor cells with an isolated JAGGED polypeptide, or active fragment thereof. The invention additionally provides a method of diagnosing Alagille Syndrome in an individual. The method consists of detecting an Alagille Syndrome disease-associated mutation linked to a JAGGED locus.

  13. How Is Marfan Syndrome Diagnosed?

    MedlinePLUS

    ... of Marfan syndrome may vary quite a bit. Specialists Involved Your family doctor or another type of doctor, such as an orthopedist (bone specialist), may notice certain traits that suggest Marfan syndrome. ...

  14. [Asperger syndrome - a too late diagnosed disorder?].

    PubMed

    Schiffer, C; Ristow, G; Becker, K; Schmidt, M H

    2007-01-01

    Asperger syndrome is a disorder within the autistic spectrum, which was first described by Hans Asperger in 1944. It belongs to the group of pervasive developmental disorders and is particularly characterized by qualitative impairments of social interaction and communication as well as distinct special interests and stereotyped patterns of behaviour. We present a patient, showing the typical behavioural symptoms of the Asperger syndrome, which were first diagnosed at the age of sixteen. PMID:17405073

  15. How Do Health Care Providers Diagnose Cushing's Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Cushing’s syndrome? Skip sharing on social ... easily recognized when it is fully developed, but health care providers try to diagnose and treat it well ...

  16. How Do Health Care Providers Diagnose Fragile X Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Fragile X syndrome? Skip sharing on social media links Share this: Page Content Health care providers often use a blood sample to diagnose ...

  17. How Do Health Care Providers Diagnose Rett Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Rett syndrome? Skip sharing on social ... Rett syndrome may not always be present, so health care providers also need to evaluate the child's symptoms ...

  18. How Do Health Care Providers Diagnose Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Down syndrome? Skip sharing on social media links Share this: Page Content Health care providers can check for Down syndrome during pregnancy ...

  19. How Do Health Care Providers Diagnose Prader-Willi Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Prader-Willi syndrome (PWS)? Skip sharing ... a "floppy" body and weak muscle tone, a health care provider may conduct genetic testing for Prader-Willi ...

  20. How Do Health Care Providers Diagnose Turner Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Turner syndrome? Skip sharing on social media links Share this: Page Content Health care providers use a combination of physical symptoms and ...

  1. How Do Health Care Providers Diagnose Klinefelter Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose Klinefelter syndrome (KS)? Skip sharing on ... karyotype (pronounced care-EE-oh-type ) test. A health care provider will take a small blood or skin ...

  2. [Primary hypogonadism associated with neuropsychiatric disorders].

    PubMed

    Fehlow, P; Walther, F

    1991-01-01

    Among 43 female patients aged 17-46 years, most with severe oligophrenia, there were 4 with primary hypogonadism (olfactory-genital dysplasia, Smith-Lemli-Opitz syndrome and lastly a Kanner syndrome). The incidence of genital underdevelopment is assumed to be higher among mentally retarded female patients. In cases of hypogonadism and hypogenitalism a search should always be made for possible mental and neurological disorders. PMID:1759640

  3. How to diagnose a lipodystrophy syndrome.

    PubMed

    Vantyghem, Marie-Christine; Balavoine, Anne-Sophie; Douillard, Claire; Defrance, Frédérique; Dieudonne, Lucile; Mouton, Fanny; Lemaire, Christine; Bertrand-Escouflaire, Nicole; Bourdelle-Hego, Marie-Françoise; Devemy, Fabrice; Evrard, Anne; Gheerbrand, Dominique; Girardot, Caroline; Gumuche, Sophie; Hober, Christine; Topolinski, Hélčne; Lamblin, Blandine; Mycinski, Bénédicte; Ryndak, Amélie; Karrouz, Wassila; Duvivier, Etienne; Merlen, Emilie; Cortet, Christine; Weill, Jacques; Lacroix, Dominique; Wémeau, Jean-Louis

    2012-06-01

    The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders. PMID:22748602

  4. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice

    Microsoft Academic Search

    Hongwei Yu; Man Li; G Stephen Tint; Jianliang Chen; Guorong Xu; Shailendra B Patel

    2007-01-01

    BACKGROUND: Targeted disruption of the murine 3?-hydroxysterol-?7-reductase gene (Dhcr7), an animal model of Smith-Lemli-Opitz syndrome, leads to loss of cholesterol synthesis and neonatal death that can be partially rescued by transgenic replacement of DHCR7 expression in brain during embryogenesis. To gain further insight into the role of non-brain tissue cholesterol deficiency in the pathophysiology, we tested whether the lethal phenotype

  5. How we diagnose the antiphospholipid syndrome

    Microsoft Academic Search

    Bill Giannakopoulos; Freda Passam; Yiannis Ioannou; Steven A. Krilis; Infectious Diseases

    2008-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilia, characterized by the occurrence of venous and arterial events. This article examines the labora- tory and key clinical aspects of APS. Particular focus is given to anti-beta 2- glycoprotein I (2GPI) antibodies in view of their recent inclusion in the APS classi- fication criteria. The clinical utility of us- ing the 2GPI

  6. [Difficulties in diagnosing immunologically determined disease syndromes].

    PubMed

    Grys, I; Dudziak, M

    A case of amyloidosis is presented in a man aged 21 years, discussing the diagnostic difficulties in immunologically-determined syndromes, and considerable serious consequences of their inappropriate treatment. On the margin of this case important problems are discussed connected with juvenile rheumatoid arthritis, rheumatic fever and amyloidosis. PMID:2637550

  7. Analysis of Speech Properties of Neurotypicals and Individuals Diagnosed with Autism and Down Syndrome

    E-print Network

    individuals diagnosed with autism and Down syndrome have difficulties producing intelligible speech conversations between neurotypicals and individuals diagnosed with autism/Down-syndrome was used. Analyzing parameters in real time and get live feedback. General Terms Human Factors Keywords Autism, Down syndrome

  8. Diagnosing and treating premenstrual syndrome in five western nations.

    PubMed

    Weisz, George; Knaapen, Loes

    2009-04-01

    Premenstrual syndrome (PMS) and its derivative Premenstrual Dysphoric Disorder (PMDD) are controversial medical diagnoses. On one hand they are ubiquitous in English-language cultures; on the other they are for many emblematic of unnecessary medicalization of natural physiological processes. In this paper, we use data produced by IMS, a health care information and research firm, to analyze office-based medical practice related to PMS/PMDD in five countries. We come to several conclusions: 1. Relatively few doctors in any country diagnose women as suffering from PMS/PMDD, despite significant national variations in frequency of diagnosis; 2. Women diagnosed with this condition are usually prescribed a medication no matter what kind of specialist they see; and 3. In North America and the UK, practitioners generally follow USA practice guidelines which favour use of anti-depressive drugs like SSRIs but this is not the case in France and Germany which exhibit unique prescription patterns. In France hormonal treatment and analgesics dominate; in Germany the plant extract Vitex agnus-castus, considered an alternative therapy in much of the English-speaking world, is most common. We go on to discuss the relevance of these conclusions to discussions of variations in medical practices, to the existing PMS literature that claims high rates of prevalence for this condition, and to recent studies of "demedicalization" in certain domains. PMID:19233531

  9. Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders.

    PubMed

    Natesan, Senthilkumar A; Handyside, Alan H; Thornhill, Alan R; Ottolini, Christian S; Sage, Karen; Summers, Michael C; Konstantinidis, Michalis; Wells, Dagan; Griffin, Darren K

    2014-11-01

    Preimplantation genetic diagnosis (PGD) for monogenic disorders has the drawback of time and cost associated with tailoring a specific test for each couple, disorder, or both. The inability of any single assay to detect the monogenic disorder in question and simultaneously the chromosomal complement of the embryo also limits its application as separate tests may need to be carried out on the amplified material. The first clinical use of a novel approach ('karyomapping') was designed to circumvent this problem. In this example, karyomapping was used to confirm the results of an existing PGD case detecting both chromosomal abnormalities and a monogenic disorder (Smith-Lemli-Opitz [SLO] syndrome) simultaneously. The family underwent IVF, ICSI and PGD, and both polar body and cleavage stage biopsy were carried out. Following whole genome amplification, array comparative genomic hybridisation of the polar bodies and minisequencing and STR analysis of single blastomeres were used to diagnose maternal aneuploidies and SLO status, respectively. This was confirmed, by karyomapping. Unlike standard PGD, karyomapping required no a-priori test development. A singleton pregnancy and live birth, unaffected with SLO syndrome and with no chromosome abnormality, ensued. Karyomapping is potentially capable of detecting a wide spectrum of monogenic and chromosome disorders and, in this context, can be considered a comprehensive approach to PGD. PMID:25154779

  10. A novel mathematical approach to diagnose premenstrual syndrome.

    PubMed

    Chattopadhyay, Subhagata; Acharya, U Rajendra

    2012-08-01

    Diagnosis of Premenstrual syndrome (PMS) is a research challenge due to its subjective presentation. An undiagnosed PMS case is often termed as 'borderline' ('B') that further add to the diagnostic fuzziness. This study proposes a methodology to diagnose PMS cases using a combined knowledge engineering and soft computing techniques. According to the guidelines of American College of Gynecology (ACOG), ten symptoms have been selected and technically processed for 50 cases each having class labels-'B' or 'NB' (not borderline) using domain expertise. Any Attribute that fails normality test has been excluded from the study. Decision tree (DT) has then been induced in obtaining the initial class boundaries and mining the important Attributes to classify PMS cases. Prior doing so, the best split criterion has been set using the maximum information gain measure. Initial information about classification boundaries are finally used to measure fuzzy membership values and the corresponding firing strengths have been measured for final classification of PMS 'B' cases. PMID:21465184

  11. Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss.

    ERIC Educational Resources Information Center

    Vernon, McCay

    1982-01-01

    The association of hearing loss and retinitis pigmentosa has been generally recognized as the genetic disorder of Usher's syndrome. The article reviews findings of this syndrome and suggests strategies for dealing with the clinical and psychological problems displayed by Usher's syndrome patients. (Author/SW)

  12. How Do Health Care Providers Diagnose Preeclampsia, Eclampsia, and HELLP Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose preeclampsia, eclampsia, and HELLP syndrome? Skip ... social media links Share this: Page Content A health care provider should check a pregnant woman's blood pressure ...

  13. Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Klusek, J.; Martin, G. E.; Losh, M.

    2014-01-01

    Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

  14. A Fetal Wolff-Parkinson-White Syndrome Diagnosed Prenatally by Magnetocardiography

    Microsoft Academic Search

    Takayoshi Hosono; Yoshihide Chiba; Mika Shinto; Akihiko Kandori; Keiji Tsukada

    2001-01-01

    We report a case of fetal Wolff-Parkinson-White (WPW) syndrome diagnosed prenatally by magnetocardiography (MCG). At 32 weeks’ gestation, the fetus was diagnosed to have a paroxysmal supraventricular tachycardia by ultrasonography and direct fetal electrocardiogram (ECG). Transplacental fetal therapy by maternal oral administration of propranolol resolved the fetal tachyarrhythmia. Although the wave forms of the fetal MCG at 32 weeks’ gestation

  15. A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome.

    PubMed

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Bar?s; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23?mg/dL), and proteinuria (7.6?g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1?mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  16. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    PubMed Central

    Cebeci, Egemen; Demir, Secil; Gursu, Meltem; Sumnu, Abdullah; Yamak, Mehmet; Doner, Bar?s; Karadag, Serhat; Uzun, Sami; Behlul, Ahmet; Ozkan, Oktay; Ozturk, Savas

    2015-01-01

    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23?mg/dL), and proteinuria (7.6?g/day). Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1?mg/kg and began to be followedup in the nephrology outpatient clinic. PMID:26000182

  17. How Do Health Care Providers Diagnose Polycystic Ovary Syndrome (PCOS)?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose PCOS? Skip sharing on social media links Share this: Page Content Your health care provider may suspect PCOS if you have eight ...

  18. Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

    ERIC Educational Resources Information Center

    Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr.

    2010-01-01

    A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…

  19. Bazex Syndrome (Acrokeratosis Paraneoplastica) Diagnosed in a Patient with Oral Persistent Ulcerations

    PubMed Central

    Santos-Silva, Alan Roger; Correa, Marcelo Brum; Vargas, Pablo Agustin; Almeida, Oslei Paes

    2010-01-01

    Paraneoplastic syndromes associated with head and neck cancer are rare and have been reported under dermatological, endocrine, hematological, neurological and rheumatological disorders. Bazex syndrome is an intriguing paraneoplasia that can be associated with head and neck squamous cell carcinomas. A range of symmetrical dermatological manifestations, with a clear predilection to extremities, that encompasses erythematous squamous plaques, skin scaling and nail dystrophy can provide a psoriasiform pattern in Bazex syndrome. In addition to these tricky clinical features, the rarity of the disease and the lack of understanding on Bazex syndrome generally make such cases to be mismanaged as psoriasis or lichen planus, causing an important delay in the diagnosis of the underlying malignancy. The authors describe a case of Bazex syndrome that occurred in a patient with a recently diagnosed tongue squamous cell carcinoma. Clinicians should consider paraneoplasia when assessing skin and/or oral persistent lesions. PMID:20721648

  20. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    ERIC Educational Resources Information Center

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  1. Anticardiolipin antibodies in the sera of patients with diagnosed chronic fatigue syndrome

    Microsoft Academic Search

    Yoshitsugi Hokama; Cara Empey Campora; Cynthia Hara; Tina Kuribayashi; Diana Le Huynh; Kenichi Yabusaki

    2009-01-01

    Examination of anticardiolipin antibodies (ACAs) in the sera of patients clinically diagnosed with chronic fatigue syndrome (CFS) using an enzyme-linked immunoas- say procedure demonstrated the presence of immunoglobulin M isotypes in 95% of CFS serum samples tested. The presence of immunoglobulin G and immunoglobulin A isotypes were also de- tected in a subset of the samples. Future studies will focus

  2. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    ERIC Educational Resources Information Center

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  3. [Nursing role in patient management diagnosed chronic fatigue syndrome].

    PubMed

    Alvarez, Carballo; Royes, Badía; Lalinde, Sevillano; Vidal, Llinas; Martín, Alegre

    2010-12-01

    Chronic fatigue syndrome is a serious, complex and debilitating fatigue characterized by intense physical and mental, that does not subside significantly after rest and worsens with activity The appearance of the disease requires the patient to reduce the activity diminished their quality of life. While there is no cure, the complexity of the disease requires an interdisciplinary approach where the mission of nursing is to identify the least healthy responses of each individual in relation to their health status and interfering with them by means of specific support, integrated support and follow a care plan tailored to the individual needs of each individual. Fatigue, pain, sleep pattern disturbance, anxiety and lack of knowledge are the most prevalent health problems in patients treated at the Chronic Fatigue Unit, University Hospital Vail d'Hebron. Thus, in these problems and by developing a customized care plan process we use for health education as a tool for influencing the control of symptoms through interventions to improve the learning support, emotional support and Accompanying with the aim of helping the patient and their relatives are an adaptive response to their new health status and thus improve the quality of life. PMID:21322185

  4. Predictive value of the rome criteria for diagnosing the irritable bowel syndrome

    Microsoft Academic Search

    S. J Vanner; W. T Depew; W. G Paterson; L. R DaCosta; A. G Groll; J. B Simon; M Djurfeldt

    1999-01-01

    OBJECTIVE:Our aim was to examine the predictive value of the Rome criteria and absence of so-called “red flags” of clinical practice for diagnosing irritable bowel syndrome. Red flags were relevant abnormalities on physical examination, documented weight loss, nocturnal symptoms, blood in stools, history of antibiotic use, and family history of colon cancer.METHODS:In retrospective studies, 98 patients who had one or

  5. Chronic Fatigue Syndrome Patients Subsequently Diagnosed with Lyme Disease Borrelia burgdorferi: Evidence for Mycoplasma Species Coinfections

    Microsoft Academic Search

    Garth L. Nicolson; Nancy L. Nicolson; Joerg Haier

    2008-01-01

    Objective: We examined the blood of 48 North American Chronic Fatigue Syndrome (CFS) patients subsequently diagnosed with Lyme Disease Borrelia burgdorferi and compared these to 50 North American CFS patients without evidence of Borrelia burgdorferi infections for presence of Mycoplasma spp. co-infections using forensic polymerase chain reaction. Results: We found that 68.75% of CFS\\/Lyme patients show evidence of mycoplasma co-infections

  6. Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)?

    PubMed Central

    Krone, Nils; Hughes, Beverly A.; Lavery, Gareth G.; Stewart, Paul M.; Arlt, Wiebke; Shackleton, Cedric H.L.

    2010-01-01

    Liquid chromatography tandem mass spectrometry (LC/MS/MS) is replacing classical methods for steroid hormone analysis. It requires small sample volumes and has given rise to improved specificity and short analysis times. Its growth has been fueled by criticism of the validity of steroid analysis by older techniques, testosterone measurements being a prime example. While this approach is the gold-standard for measurement of individual steroids, and panels of such compounds, LC/MS/MS is of limited use in defining novel metabolomes. GC/MS, in contrast, is unsuited to rapid high-sensitivity analysis of specific compounds, but remains the most powerful discovery tool for defining steroid disorder metabolomes. Since the 1930s almost all inborn errors in steroidogenesis have been first defined through their urinary steroid excretion. In the last 30 years, this has been exclusively carried out by GC/MS and has defined conditions such as AME syndrome, glucocorticoid remediable aldosteronism (GRA) and Smith–Lemli–Opitz syndrome. Our recent foci have been on P450 oxidoreductase deficiency (ORD) and apparent cortisone reductase deficiency (ACRD). In contrast to LC/MS/MS methodology, a particular benefit of GC/MS is its non-selective nature; a scanned run will contain every steroid excreted, providing an integrated picture of an individual's metabolome. The “Achilles heel” of clinical GC/MS profiling may be data presentation. There is lack of familiarity with the multiple hormone metabolites excreted and diagnostic data are difficult for endocrinologists to comprehend. While several conditions are defined by the absolute concentration of steroid metabolites, many are readily diagnosed by ratios between steroid metabolites (precursor metabolite/product metabolite). Our work has led us to develop a simplified graphical representation of quantitative urinary steroid hormone profiles and diagnostic ratios. PMID:20417277

  7. Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.

    PubMed

    Srour, Myriam; Mazer, Barbara; Shevell, Michael I

    2006-04-01

    Sotos syndrome (cerebral gigantism) is characterized by macrocephaly, global developmental delay, characteristic facial dysmorphology, and a markedly advanced bone age. The purpose of this study was to describe the prevalence of Sotos syndrome in a consecutive series of patients with global developmental delay, which might modify our laboratory evaluation approach to this particular clinical situation. For a 10-year inclusive interval, the case records of all consecutive patients referred for global developmental delay in a single pediatric neurology practice were reviewed. Patients with macrocephaly were defined by an age- and gender-adjusted head circumference greater than or equal to the 98th percentile. Possible clinical factors associated with eventual diagnosis of Sotos syndrome in this group of macrocephalic children were tested with a two-tailed Fisher exact test. Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly. Of these 18 children, 3 (17%) had an advanced bone age and were diagnosed with Sotos syndrome. In patients with global developmental delay and concomitant macrocephaly, Sotos syndrome is not uncommon. Assessment of bone age is a simple screening test for diagnosis of this entity and should be undertaken routinely in children with macrocephaly and global developmental delay even in the absence of other distinctive syndromic clinical features. PMID:16900922

  8. A disease difficult to diagnose: Gardner-Diamond syndrome accompanied by platelet dysfunction

    PubMed Central

    Karaka?, Zeynep; Karaman, Serap; Avc?, Burcu; Ünüvar, Ay?egül; Öztürk, Gülyüz; Anak, Sema; Devecio?lu, Ömer

    2014-01-01

    Gardner Diamond syndrome is a rare condition characterized with painful ecchymoses in different parts of the body and cutaneous and mucosal hemorrhages. The etiology is not known fully and psychogenic factors are thought to be involved. Cutaneous lesions and hemorrhages develop mostly following emotional stress and rarely minor traumas and may recur. Although the extremities are involved with the highest rate, the lesions may be observed in any part of the body. Hemostatic tests are generally normal. The majority of the subjects is composed of young women. It is observed more rarely in men and children. In this article, a patient who presented with recurring painful echymoses and bleeding disorder and diagnosed with Gardner Diamond syndrome by intracutaneous injection of autologous blood was presented to emphasize that this syndrome is observed rarely in the childhood and should be considered not only in the differential diagnosis of cutaneous lesions, but also in the differential diagnosis of various system hemorrhages. PMID:26078671

  9. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed With Asperger’s Syndrome and Autism

    Microsoft Academic Search

    James Holdnack; Gerald Goldstein; Lisa Drozdick

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger’s syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger’s syndrome using the Wechsler Adult Intelligence Scale—Fourth Edition (WAIS-IV) and the Social Perception subtest from the Advanced Clinical Solutions. Deficits in social

  10. LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.

    PubMed

    Becker, S; Röhnike, S; Empting, S; Haas, D; Mohnike, K; Beblo, S; Mütze, U; Husain, R A; Thiery, J; Ceglarek, U

    2015-07-01

    Smith-Lemli-Opitz syndrome (SLOS) is an inherited metabolic disease in the cholesterol biosynthesis pathway which is characterised by accumulation of 7- and 8-dehydrocholesterol and by reduced cholesterol concentrations in all tissues and body fluids. With this study, we developed a new, rapid, robust and high-throughput tandem mass spectrometric method as routine application for the selective SLOS screening and therapy monitoring in serum and dried blood. After protein precipitation of 10 ?L serum or 4.7 mm dried blood spot, the sum of 7- and 8-dehydrocholesterol (DHC) was analysed by rapid chromatography combined with tandem mass spectrometry. Method comparison with GC-MS was performed for 46 serum samples. A comparison between serum and corresponding dried blood spots for DHC and cholesterol was performed with 40 samples from SLOS patients. Concentrations of DHC and cholesterol were analysed in 2 dried blood samples from newborns with SLOS and 100 unaffected newborns. Intra- and inter-assay variabilities ranged between 3.7 and 17.7 % for serum and dried blood spots. Significant correlations between the new LC-MS/MS method and GC-MS were determined for DHC (r?=?0.937, p?diagnosed with SLOS from normal newborns in a retrospective analysis after 5 years. The developed method enables a rapid quantification of the sum parameter 7- and 8-DHC in newborns and SLOS patients under therapy in serum as well as dried blood spot samples. PMID:25963649

  11. Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI

    NASA Astrophysics Data System (ADS)

    Xu, Libin; Kliman, Michal; Forsythe, Jay G.; Korade, Zeljka; Hmelo, Anthony B.; Porter, Ned A.; McLean, John A.

    2015-06-01

    Profiling and imaging of cholesterol and its precursors by mass spectrometry (MS) are important in a number of cholesterol biosynthesis disorders, such as in Smith-Lemli-Opitz syndrome (SLOS), where 7-dehydrocholesterol (7-DHC) is accumulated in affected individuals. SLOS is caused by defects in the enzyme that reduces 7-DHC to cholesterol. However, analysis of sterols is challenging because these hydrophobic olefins are difficult to ionize for MS detection. We report here sputtered silver matrix-assisted laser desorption/ionization (MALDI)-ion mobility-MS (IM-MS) analysis of cholesterol and 7-DHC. In comparison with liquid-based AgNO3 and colloidal Ag nanoparticle (AgNP), sputtered silver NP (10-25 nm) provided the lowest limits-of-detection based on the silver coordinated [cholesterol + Ag]+ and [7-DHC + Ag]+ signals while minimizing dehydrogenation products ([M + Ag-2H]+). When analyzing human fibroblasts that were directly grown on poly-L-lysine-coated ITO glass plates with this technique, in situ, the 7-DHC/cholesterol ratios for both control and SLOS human fibroblasts are readily obtained. The m/z of 491 (specific for [7-DHC + 107Ag]+) and 495 (specific for [cholesterol + 109Ag]+) were subsequently imaged using MALDI-IM-MS. MS images were co-registered with optical images of the cells for metabolic ratio determination. From these comparisons, ratios of 7-DHC/cholesterol for SLOS human fibroblasts are distinctly higher than in control human fibroblasts. Thus, this strategy demonstrates the utility for diagnosing/assaying the severity of cholesterol biosynthesis disorders in vitro.

  12. Getting Diagnosed

    MedlinePLUS

    ... also for those with related disorders. How is Marfan syndrome diagnosed? A Marfan diagnosis can often be ... spinal column). Is there a genetic test for Marfan syndrome? Genetic testing can provide helpful information in ...

  13. Long-term results of children diagnosed with idiopathic nephrotic syndrome; single center experience

    PubMed Central

    Hac?hamdio?lu, Duygu Övünç; Kalman, Süleyman; Gök, Faysal

    2015-01-01

    Aim: The aim of this study was to determine the long-term results of children followed up with a diagnosis of nephrotic syndrome in a single center. Materials and Method: The medical data of 33 patients aged between 6 months and 10 years who were diagnosed with idiopathic nephrotic syndrome in our center between January 2000 and December 2012 and followed up for a period of 2–12 years were reviewed (Gulhane Military Medical Academy Ethics committee, 07.11.2012/10). Results: The mean age of disease onset was 3.2±2.04 years (range: 0.5–10 years) and the mean follow-up period was 6±3.4 years (range: 2–12 years). Thirteen (39.4%) of the study group (or the patients) were female and 20 (60.6%) were male. Twenty seven (1.8%) of the patients were sensitive to steroid and 6 (18.1%) were resistant to steroid. Four (12.1%) of the steroid-resistant patients had steroid-dependent nephrotic syndrome, 5 (15.2%) had frequently relapsing nephrotic syndrome and 18 (54.5%) had rarely relapsing nephrotic syndrome. Histopathological diagnoses of six patients who underwent biopsy because of resistance to steroid were as follows: focal segmental glomerulosclerosis (n=3), C1q nephropathy (n=1), diffuse mesangial proliferation (n=1) and membraneous nephropathy (n=1). Fifteen (45.5%) patients entered into full remission and 2 (6%) patients developed chronic renal failure. Treatment complications including decreased bone mineral density in three patients (9%), short stature in 2 patients (6%) and cataract in 2 patients (6%) developed. Conclusions: Children with nephrotic syndrome carry a risk in terms of short stature, osteoporosis, cataract and renal failure in the long-term follow-up. It was observed that our rates of response to steroid were similar to the literature and the most common histopathological diagnosis was focal segmental glomerulosclerosis in our patients who underwent biopsy because of resistance to steroid. It was thought that multi-center studies should be conducted to demonstrate regional or national differences related with long-term results of childhood nephrotic syndrome.

  14. [Spontaneus ductal closure in a fetus postnatally diagnosed as Adams-Olivier syndrome].

    PubMed

    W?och, Agata; Borowski, Dariusz; Czuba, Bartosz; W?och, Stanis?aw; Sodowski, Krzysztof

    2006-08-01

    In utero isolated ductal closure is uncommon and can lead to congestive heart failure, fetal hydrops and death if not recognized. A case report of premature spontaneus ductal closure in the third trimester of pregnancy in a fetus postnatally diagnosed as Adams-Olivier Syndrome is presented. On ultrasound examination an intrauterine growth restriction, defects of bones of hands and feet as well as ventriculomegaly were found. No nonsteroid drug treatment during pregnancy was applied. Fetal echocardiography was performed following an abnormal four-chamber view. Premature ductal closure was diagnosed. Fetal echocardiogram showed absent flow in the ductus arteriosus, dilated right ventricle with decreased function, and moderate tricuspid and pulmonary valve insufficiency with no signs of fetal hydrops. An elective cesarean section was performed. All abnormalities observed on former echocardiogram exam withdrew within 3 months of infant's life. The infant stays in the tertiary care centre due to the extracardiac malformations. PMID:17076195

  15. Short QT syndrome in a boy diagnosed on screening for heart disease.

    PubMed

    Suzuki, Hiroshi; Hoshina, Satoshi; Ozawa, Junichi; Sato, Akinori; Minamino, Tohru; Aizawa, Yoshifusa; Saitoh, Akihiko

    2014-10-01

    We report on an asymptomatic 10-year-old boy who had a short QT interval (corrected QT interval, 260 ms). Short QT syndrome (SQTS) was detected in a school screening program for heart disease and the patient was subsequently diagnosed as having N588K mutation in the KCNH2 gene. Quinidine prolonged the QT interval, but not the QU interval. During treadmill exercise stress test, QT and QU intervals responded differently to heart rate changes, suggesting a mechanoelectrical hypothesis for the origin of the U wave. Although rare, attention should be paid to SQTS, which is associated with potential fatal arrhythmias. PMID:25335996

  16. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome.

    PubMed

    Moss, Robert A

    2013-01-01

    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation. PMID:22506855

  17. [Eclampsia and total bilateral amaurosis in a woman subsequently diagnosed with reversible posterior leukoencephalopathy syndrome].

    PubMed

    Andrés, M A Arteche; Ortiz-Gómez, J R; Mansob, A M Martín; Martí, I Plaja; García, S Hernández; Ortigosa, F Sos

    2008-05-01

    Eclampsia is a complication of preeclampsia and is characterized by the appearance of grand mal seizures and/or coma, in the absence of any other neurological abnormalities. Neither focal neurological deficit nor prolonged coma tends to develop following a crisis. Eclampsia should therefore lead us to consider other clinical entities that may require special treatment. We report the case of a pregnant woman who presented total bilateral loss of vision following a grand mal seizure. The patient was subsequently diagnosed with reversible posterior leukoencephalopathy syndrome, which has clinical and radiologic manifestations linked to several causes, such as hypertensive encephalopathy, eclampsia, kidney failure, and immunosuppressant therapy. The syndrome involves headache, altered states of consciousness, changes in vision (including blindness), and seizures; these symptoms generally coincide with a rapid increase in blood pressure. Diagnosis requires neuroimaging, and the typical finding is edema in the posterior zones of the brain hemispheres. The most widely accepted hypothesis concerning the pathophysiologic mechanism underlying this syndrome is failure of cerebral autoregulation with development of vasogenic edema. The prognosis is good and the alterations usually resolve completely with appropriate treatment, which is the same as for the management of eclampsia, with strict monitoring of blood pressure. PMID:18661690

  18. Acute Fetal Anemia Diagnosed by Middle Cerebral Artery Doppler Velocimetry in Stage V Twin–Twin Transfusion Syndrome

    PubMed Central

    Salcedo, Jennifer; Friedrich, Esther; Wing, Deborah A.; Porto, Manuel

    2011-01-01

    In stage V twin–twin transfusion syndrome (TTTS), up to 50% of surviving twins die or experience permanent disabilities, likely due to acute intertwin hemorrhage resulting in sudden severe anemia of the survivor. Although fetal middle cerebral artery (MCA) Doppler studies demonstrate strong correlation with fetal hemoglobin values, acute hemorrhagic events are more difficult to diagnose, and optimal timing of delivery of the survivor poses an obstetric dilemma. We report a case of newly diagnosed stage V TTTS at 28 weeks gestation, complicated by acute severe anemia diagnosed by significantly abnormal fetal MCA Doppler studies. The anemic twin was urgently delivered and is doing well without significant sequelae. PMID:23705095

  19. Comorbidities and Survival in a Large Cohort of Patients with Newly Diagnosed Myelodysplastic Syndromes

    PubMed Central

    Wang, Rong; Gross, Cary P.; Halene, Stephanie; Ma, Xiaomei

    2009-01-01

    Comorbid conditions have rarely been systematically studied among patients with myelodysplastic syndromes (MDS). We conducted a large population-based study to assess the role of comorbidity in the survival of newly diagnosed MDS patients. This study included 1,708 MDS patients (age ? 66 years) diagnosed in the US during 2001–2002, with follow-up through the end of 2004. Hazard ratios (HRs) were estimated using multivariate Cox proportional hazard models. The median survival time was approximately 18 months. Fifty one percent of MDS patients had comorbid conditions. Patients with comorbid conditions had significantly greater risk of death than those without comorbidities. The HR was 1.19 (95% confidence interval [CI]: 1.05–1.36) and 1.77 (95% CI: 1.50–2.08) for those with a Charlson index of 1–2 and ? 3, respectively. The risk of death increases with Charlson index. MDS patients who have congestive heart failure or chronic obstructive pulmonary disease had significantly shorter survival than patients without those conditions, whereas diabetes did not appear to have an impact on survival. This study confirms comorbidity as a significant and independent determinant of MDS survival, and the findings underscore the importance to take comorbid conditions into account when assessing the prognosis of MDS. PMID:19324411

  20. Associations between operationally estimated blast exposures and postdeployment diagnoses of postconcussion syndrome and posttraumatic stress disorder.

    PubMed

    Saxe, Johnathan L; Perdue, Christopher L

    2015-01-01

    Traumatic brain injuries and other blast-related injuries have been identified as the signature injury of the wars in Iraq and Afghanistan. Some operational units in Iraq, especially those responsible for clearing roadways, were exposed to hundreds of blast incidents and thousands of individual doses of concussive energy during their lengthy deployments. Using operational records maintained by a single command element, the researchers conducted a retrospective cohort study evaluating the association between estimated individual exposures to blasts and the risk for postconcussion syndrome (PCS) and posttraumatic stress disorder (PTSD). Tactical records documented all of the relevant details of the subjects' exposures to blasts during their missions. During the study period there were 313 blasts involving 418 service members resulting in 4,250 blast person events. Of that population, 12.9% were diagnosed with PCS, 8.6% with PTSD, and 5.3% with both. This study suggests that estimating the total individual dosage to concussive forces through physical evidence at the scene could be a useful predictor of future brain-disorder diagnoses. Those in vehicles sustaining heavy blast damage are at increased risk of being diagnosed with PTSD with a rate ratio of 2.79 (95% CI, 1.27-6.13) and PTSD in conjunction with PCS with a rate ratio of 4.10 (95% CI, 1.63-10.28). Standardization of the data collection method for blast incidents and additional follow-up studies could lead to the development of better ways of monitoring operational risk factors for negative health outcomes, plans to intervene in order to minimize health risks, and establish customized follow-up protocols based on specific dosage thresholds. PMID:25651149

  1. A Randomized Controlled Trial of a Cognitive Behavioural Intervention for Anger Management in Children Diagnosed with Asperger Syndrome

    ERIC Educational Resources Information Center

    Sofronoff, Kate; Attwood, Tony; Hinton, Sharon; Levin, Irina

    2007-01-01

    The purpose of the study described was to evaluate the effectiveness of a cognitive behavioural intervention for anger management with children diagnosed with Asperger syndrome. Forty-five children and their parents were randomly assigned to either intervention or wait-list control conditions. Children in the intervention participated in six 2-h…

  2. A Language Programme to Increase the Verbal Production of a Child Dually Diagnosed with Down Syndrome and Autism

    ERIC Educational Resources Information Center

    Kroeger, K. A.; Nelson, W. M., III

    2006-01-01

    Background: The incidence of children dually diagnosed with Down syndrome and autism is estimated to be as high as 11%. There is a paucity of research investigating linguistic treatment interventions for such children. This single-subject experiment examined a programme designed to increase the language production and verbal behaviour of a…

  3. Social perception and WAIS-IV Performance in adolescents and adults diagnosed with Asperger's Syndrome and Autism.

    PubMed

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-06-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) and the Social Perception subtest from the Advanced Clinical Solutions. Deficits in social perception, verbal comprehension, and processing speed were found in the Autism sample. Additionally, they exhibited inconsistent performance on auditory working memory and perceptual reasoning tasks. The Asperger's syndrome group had better overall cognitive skills than the Autism group, but compared with controls, they had weaknesses in processing speed, social perception, and components of auditory working memory. Both groups had relatively low scores on the WAIS-IV Comprehension subtest compared with the other verbal comprehension subtests. Clinical application and utility of the WAIS-IV and Social Perception in Autism Spectrum Disorders are discussed. PMID:21220381

  4. Ciliates learn to diagnose and correct classical error syndromes in mating strategies

    PubMed Central

    Clark, Kevin B.

    2013-01-01

    Preconjugal ciliates learn classical repetition error-correction codes to safeguard mating messages and replies from corruption by “rivals” and local ambient noise. Because individual cells behave as memory channels with Szilárd engine attributes, these coding schemes also might be used to limit, diagnose, and correct mating-signal errors due to noisy intracellular information processing. The present study, therefore, assessed whether heterotrich ciliates effect fault-tolerant signal planning and execution by modifying engine performance, and consequently entropy content of codes, during mock cell–cell communication. Socially meaningful serial vibrations emitted from an ambiguous artificial source initiated ciliate behavioral signaling performances known to advertise mating fitness with varying courtship strategies. Microbes, employing calcium-dependent Hebbian-like decision making, learned to diagnose then correct error syndromes by recursively matching Boltzmann entropies between signal planning and execution stages via “power” or “refrigeration” cycles. All eight serial contraction and reversal strategies incurred errors in entropy magnitude by the execution stage of processing. Absolute errors, however, subtended expected threshold values for single bit-flip errors in three-bit replies, indicating coding schemes protected information content throughout signal production. Ciliate preparedness for vibrations selectively and significantly affected the magnitude and valence of Szilárd engine performance during modal and non-modal strategy corrective cycles. But entropy fidelity for all replies mainly improved across learning trials as refinements in engine efficiency. Fidelity neared maximum levels for only modal signals coded in resilient three-bit repetition error-correction sequences. Together, these findings demonstrate microbes can elevate survival/reproductive success by learning to implement classical fault-tolerant information processing in social contexts. PMID:23966987

  5. Prevalence of metabolic syndrome among newly diagnosed hypertensive patients in the hills of Himachal Pradesh, India

    PubMed Central

    Thakur, Surender; Raina, Sujeet; Thakur, Surinder; Negi, Prakash C.; Verma, Balbir S.

    2013-01-01

    To study the prevalence of metabolic syndrome (MS) among newly diagnosed hypertensive patients in a tertiary care hospital in the northern hilly state of Himachal Pradesh, India, located in western Himalayas at a moderate altitude of 2200 m above mean sea level. One hundred and eighteen newly diagnosed hypertensive patients above the age of 20 years were studied in a hospital-based cross-sectional study. MS prevalence was estimated by International Diabetes Federation (IDF) criteria and modified National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) criteria. Student's t-test was used to compare the mean of the continuous variables. Chi-square test was used to compare discrete variables. The prevalence of MS in hypertensive patients was 68.6% (modified NCEP-ATP III) and 63.6% (IDF criteria). The most common phenotype of MS with the component of hypertension was the coexistence of waist circumference (90.1%), low high-density lipoprotein (HDL; 70.4%), and high triglycerides (67.9%) as per the modified NCEP-ATP III criteria, and low HDL (76.2%) and high triglycerides (66.4%) as per the IDF criteria. Fasting blood glucose (33.2% as per the modified NCEP-ATP III criteria and 32.6% as per the IDF criteria) was the least significant factor having an association with MS. The prevalence of MS among hypertensive patients was high and indicates the need for metabolic screening in all hypertensive patients at the first diagnosis. PMID:23961493

  6. Rectal Cancer Diagnosed after Cesarean Section in Which High Microsatellite Instability Indicated the Presence of Lynch Syndrome

    PubMed Central

    Okuda, Tomohiro; Ishii, Hiroshi; Yamashita, Sadao; Matsuo, Seiki; Okimura, Hiroyuki

    2015-01-01

    We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5?cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The tumor gradually increased in size and blocked the birth canal, resulting in the patient undergoing an emergency Cesarean section. Postoperatively, the tumor was diagnosed as rectal cancer with MSI. After concurrent chemoradiation therapy, a lower anterior resection was performed. The patient's family history revealed she met the criteria of the revised Bethesda guidelines for testing the colorectal tumor for MSI. Testing revealed that the tumor did indeed show high MSI and, combined with the family history, suggested this could be a case of Lynch syndrome. Our findings emphasize the importance of considering the possibility of Lynch syndrome in pregnant women with colorectal cancer, particularly those with a family history of this condition. We suggest that the presence of Lynch syndrome should also be considered for any young woman with endometrial, ovarian, or colorectal cancer.

  7. Rectal Cancer Diagnosed after Cesarean Section in Which High Microsatellite Instability Indicated the Presence of Lynch Syndrome.

    PubMed

    Okuda, Tomohiro; Ishii, Hiroshi; Yamashita, Sadao; Ijichi, Sakura; Matsuo, Seiki; Okimura, Hiroyuki; Kitawaki, Jo

    2015-01-01

    We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5?cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The tumor gradually increased in size and blocked the birth canal, resulting in the patient undergoing an emergency Cesarean section. Postoperatively, the tumor was diagnosed as rectal cancer with MSI. After concurrent chemoradiation therapy, a lower anterior resection was performed. The patient's family history revealed she met the criteria of the revised Bethesda guidelines for testing the colorectal tumor for MSI. Testing revealed that the tumor did indeed show high MSI and, combined with the family history, suggested this could be a case of Lynch syndrome. Our findings emphasize the importance of considering the possibility of Lynch syndrome in pregnant women with colorectal cancer, particularly those with a family history of this condition. We suggest that the presence of Lynch syndrome should also be considered for any young woman with endometrial, ovarian, or colorectal cancer. PMID:26064726

  8. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

    PubMed

    Rossi, Massimiliano; Hall, Christine M; Bouvier, Raymonde; Collardeau-Frachon, Sophie; Le Breton, Frédérique; Bucourt, Martine; Cordier, Marie Pierre; Vianey-Saban, Christine; Parenti, Giancarlo; Andria, Generoso; Le Merrer, Martine; Edery, Patrick; Offiah, Amaka C

    2015-07-01

    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis. PMID:25646736

  9. Role of salivary anti-SSA/B antibodies for diagnosing primary Sjögren’s syndrome

    PubMed Central

    Wei, Pan; Li, Chunlei; Qiang, Lu; He, Jing; Li, Zhanguo

    2015-01-01

    The diagnosis of primary Sjögren’s syndrome (pSS) is complex, and the saliva test is a potential method to improve the existing diagnostic criteria. Objective: To estimate the diagnostic accuracy of salivary anti-SSA/B antibodies in primary Sjögren’s syndrome (pSS), and to analyze their correlations with clinical and laboratory profiles. Study Design: This study enrolled 100 pSS patients and 140 non-pSS controls, including 40 rheumatoid arthritis (RA) patients, 40 systemic lupus erythematosus (SLE) patients, and 60 healthy controls. Unstimulated whole saliva and stimulated parotid saliva samples were collected from the subjects. Salivary anti-SSA/B antibodies were measured using an enzyme-linked immunosorbent assay (ELISA). Clinical and laboratory data were retrieved from the medical records. Results: In the pSS group, the sensitivity of anti-SSA and anti-SSB antibodies in whole saliva was 49% and 29%, respectively, and the specificity was 87.5% and 95%. The sensitivity of anti-SSA and anti-SSB antibodies in parotid saliva was 32% and 8%, respectively, and the specificity was 95.52% and 97.86%, respectively. In the pSS group, the diagnostic accuracy of anti-SSA/B antibodies in whole saliva was significantly higher than in parotid saliva (p<0.05), but was significantly lower than in serum (p<0.05). The salivary flow rate in the pSS group positive for whole salivary anti-SSA was significantly lower than in the negative group (p<0.05). The prevalence of rheumatoid factor and antinuclear factor were significantly higher in salivary SSB-positive pSS patients than in SSB-negative patients (p<0.05). Conclusions: Compared to parotid saliva, whole saliva is a more suitable diagnostic fluid. Using salivary anti-SSA/B antibodies as a single test item is insufficient given the relatively low sensitivity. Further studies should investigate the possibility of combining tests for different salivary autoantibodies as a method for diagnosing pSS. Key words:Primary Sjögren’s syndrome, salivary diagnostics, anti-SSA autoantibodies, anti-SSB autoantibodies. PMID:25475778

  10. Acute venous thrombosis as complication and clue to diagnose a SAPHO syndrome case. A case report.

    PubMed

    Rosero, A; Ruano, R; Martin, M; Hidalgo, C; Garcia-Talavera, J

    2013-01-01

    This report concerns a male adult admitted for sternal and left arm pain, who was diagnosed and treated for acute deep venous thrombosis in the left subclavian and axillary veins. X-ray and a hybrid single photon emission tomography and computed tomography (SPECT-CT) scintigraphy scan revealed high intensity uptake in both sternoclavicular joints, which corresponded to hyperostosis, thereby suggesting a SAPHO syndrome. Upon reviewing the patient's medical history, we found dermatological pustulosis disease and an intermittent sternal chest pain untreated since 10 years ago. In the biochemical study we found erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) elevation, hyperglobulinemia, and mild anaemia. Initial treatment included nonsteroidal anti-inflammatory drugs (NSAIDs) with low response, which then changed to methotrexate, sulfasalazine, and prednisone. The patient's pain was controlled almost completely in 10 months. A control bone scan revealed a marked decrease in intensity of bone deposits according to clinical response. To our knowledge, there are only a few cases of SAPHO and thrombosis and none are followed up with a bone SPECT-CT scan. PMID:24149018

  11. Psychological resilience and depressive symptoms in older adults diagnosed with post-polio syndrome.

    PubMed

    Pierini, Diana; Stuifbergen, Alexa K

    2010-01-01

    Depression is a serious comorbidity in people with disabilities; however, few studies have focused on depressive symptoms in older adults with post-polio syndrome (PPS). This study used a resilience conceptual framework that focused on patient psychosocial strengths to investigate the relationship between psychological resilience factors (e.g., acceptance, self-efficacy, personal resources, interpersonal relationships, self-rated health, spiritual growth, stress management) and depressive symptoms in a large sample (N = 630) of people older than 65 years who were diagnosed with PPS. Forty percent of the sample scored > or = 10 on the Center for Epidemiologic Studies Short Depression Scale (CES-D10), which is a higher percentage than what has been previously cited in other studies; however, 53% of the sample had good or excellent self-rated health, suggesting psychological resilience. Depression scores were regressed on seven selected resilience factors after controlling for functional limitations. Four of the seven variables accounted for 30% of the variance in depressive symptoms, with spiritual growth representing the main predictor (beta = -.26). The implications for rehabilitation nurses in developing a patient-strengths perspective in the assessment and counseling of older adults with PPS are discussed. PMID:20681392

  12. Many individuals diagnosed with autism and Down syndrome have difficulties producing intelligible speech. Systematic analysis of their voice parameters could lead to better understanding of the specific challenges they face in achieving proper speech prod

    E-print Network

    1 Abstract Many individuals diagnosed with autism and Down syndrome have difficulties producing data from natural conversations between neuro-typicals and individuals diagnosed with autism/Down-syndrome Properties of Neurotypicals and Individuals Diagnosed with Autism and Down Syndrome Mohammed Ehsan Hoque

  13. Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer.

    PubMed

    Mills, Anne M; Liou, Sofia; Ford, James M; Berek, Jonathan S; Pai, Reetesh K; Longacre, Teri A

    2014-11-01

    Lynch syndrome (LS) is an autosomal dominant inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Mutation carriers are at substantially increased risk of developing cancers of the colorectum and endometrium, among others. Given recent recommendations for universal, cost-effective screening of all patients with newly diagnosed colorectal cancer using MMR protein immunohistochemistry, we evaluated MMR protein expression in a series of endometrial cancers in the general population. A total of 605 consecutive cases of primary endometrial cancer at a single institution (1997 to 2013) were evaluated regardless of age, family history, or histologic features. Evaluation methods consisted of immunohistochemistry for the MMR proteins MLH1, MSH2, MSH6, and PMS2, followed by DNA methylation analysis for cases with MLH1/PMS2 deficiency. Germline mutation testing was performed on a subset of cases. Forty MMR-deficient, nonmethylated endometrial cancers were identified: 3 MLH1/PMS2 and 37 MSH6/MSH2 protein deficiencies. Only 25% occurred in women below 50 years of age (range, 39 to 88 y), 1 of which was in a risk-reducing hysterectomy specimen. Only 15% of patients had a prior history of carcinoma, including only 2 patients with prior colorectal carcinoma. Most (80%) of the endometrial cancers were purely endometrioid; there were 2 mixed endometrioid/mucinous, 1 mucinous, 1 serous, 2 clear cell, and 2 carcinosarcoma cases. When grading was applicable, 40% of the endometrial malignancies were FIGO grade 1, 34% grade 2, and 26% grade 3. Thirteen percent arose in the lower uterine segment, and 23% had tumor-infiltrating lymphocytes. Of the tumors with known germline testing, 41% with a LS-associated germline mutation were not associated with any of the traditional indicators that have been recommended for LS screening (ie, age 50 y or younger, personal/family cancer pedigree that meets Bethesda guideline criteria, presence of MMR-associated tumor morphology, or location in the lower uterine segment). These data suggest that a significant number of LS-associated endometrial carcinomas are missed using clinical, histologic, and locational screening parameters and provide support for universal screening of all newly diagnosed endometrial cancers. PMID:25229768

  14. Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20)X(q32.1;q13.2)

    SciTech Connect

    Alley, T.L.; Wallace, M.R. [Univ. of Florida, Gainesville, FL (United States)] [Univ. of Florida, Gainesville, FL (United States); Scherer, S.W. [Univ. of Toronto (Canada)] [and others] [Univ. of Toronto (Canada); and others

    1997-01-31

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;q13.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint region. 11 refs., 1 fig.

  15. Atypical hemolytic uremic syndrome diagnosed four years after ABO-incompatible kidney transplantation.

    PubMed

    Kawaguchi, Keiko; Kawanishi, Kunio; Sato, Masayo; Itabashi, Mitsuyo; Fujii, Akiko; Kanetsuna, Yukiko; Huchinoue, Shouhei; Ohashi, Ryuji; Koike, Junki; Honda, Kazuho; Nagashima, Yoji; Nitta, Kosaku

    2015-07-01

    Atypical hemolytic uremic syndrome (aHUS) in allograft kidney transplantation is caused by various factors including rejection, infection, and immunosuppressive drugs. We present a case of a 32 year old woman with aHUS four years after an ABO-incompatible kidney transplantation from a living relative. The primary cause of end-stage renal disease was unknown; however, IgA nephropathy (IgAN) was suspected from her clinical course. She underwent pre-emptive kidney transplantation from her 60 year old mother. The allograft preserved good renal function [serum creatinine (sCr) level 110-130??mol/L] until a sudden attack of abdominal pain four years after transplant, with acute renal failure (sCr level, 385.3??mol/L), decreasing platelet count, and hemolytic anemia with schizocytes. On allograft biopsy, there was thrombotic microangiopathy in the glomeruli, with a cellular crescent formation and mesangial IgA and C3 deposition. Microvascular inflammation, such as glomerulitis, peritubular capillaritis, and arteriole endarteritis were also detected. A disintegrin-like and metalloproteinase with thrombospondin type 1 motifs 13 (ADAMTS13) did not decrease and Shiga toxin was not detected. Donor-specific antibodies or autoantibodies, including anti-neutrophil cytoplasmic antibody and anti-glomerular basement membrane (anti-GBM) antibody, were negative. The patient was diagnosed with aHUS and received three sessions of plasmapheresis and methylprednisolone pulse therapy, followed by oral methylprednisolone (0.25-0.5?mg/kg) instead of tacrolimus. She temporarily required hemodialysis (sCr level, 658.3??mol/L). Thereafter, her sCr level improved to 284.5??mol/L without dialysis therapy. This case is clinically considered as aHUS after kidney transplantation, associated with various factors, including rejection, glomerulonephritis, and toxicity from drugs such as tacrolimus. PMID:26031589

  16. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

    SciTech Connect

    Rossbach, H.C.; Granan, N.H.; Rossi, A.R.; Barbosa, J.L. [Univ. of South Florida, St. Petersburg, FL (United States)] [and others] [Univ. of South Florida, St. Petersburg, FL (United States); and others

    1996-01-02

    Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.

  17. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    PubMed Central

    Lacerda, Letícia da Silva; Alves, Úrsula David; Zanier, José Fernando Cardona; Machado, Dequitier Carvalho; Camilo, Gustavo Bittencourt; Lopes, Agnaldo José

    2014-01-01

    Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions. PMID:25009745

  18. Effect of clomifene citrate plus metformin and clomifene citrate plus placebo on induction of ovulation in women with newly diagnosed polycystic ovary syndrome: randomised double blind clinical trial

    Microsoft Academic Search

    Etelka Moll; Patrick M M Bossuyt; Johanna C Korevaar; Cornelis B Lambalk; Fulco van der Veen

    2006-01-01

    Objective To compare the effectiveness of clomifene citrate plus metformin and clomifene citrate plus placebo in women with newly diagnosed polycystic ovary syndrome. Design Randomised clinical trial. Setting Multicentre trial in 20 Dutch hospitals. Participants 228 women with polycystic ovary syndrome. Interventions Clomifene citrate plus metformin or clomifene citrate plus placebo. Main outcome measure The primary outcome measure was ovulation.

  19. Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility

    PubMed Central

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3–4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction. PMID:26029003

  20. The feasibility of white matter volume reduction analysis using SPM8 plus DARTEL for the diagnosis of patients with clinically diagnosed corticobasal syndrome and Richardson’s syndrome

    PubMed Central

    Sakurai, Keita; Imabayashi, Etsuko; Tokumaru, Aya M.; Hasebe, Shin; Murayama, Shigeo; Morimoto, Satoru; Kanemaru, Kazutomi; Takao, Masaki; Shibamoto, Yuta; Matsukawa, Noriyuki

    2014-01-01

    Purpose Diagnosing corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) is often difficult due to the wide variety of symptoms and overlaps in the similar clinical courses and neurological findings. The purpose of this study was to evaluate the utility of white matter (WM) atrophy for the diagnosis of patients with clinically diagnosed CBD (corticobasal syndrome, CBS) and PSP (Richardson’s syndrome, RS). Methods We randomly divided the 3D T1-weighted MR images of 18 CBS patients, 33 RS patients, and 32 age-matched controls into two groups. We obtained segmented WM images in the first group using Voxel-based specific regional analysis system for Alzheimer’s disease (VSRAD) based on statistical parametric mapping (SPM) 8 plus diffeomorphic anatomical registration through exponentiated Lie algebra. A target volume of interest (VOI) for disease-specific atrophy was subsequently determined in this group using SPM8 group analyses of WM atrophy between patients groups and controls. We then evaluated the utility of these VOIs for diagnosing CBS and RS patients in the second group. Z score values in these VOIs were used as the determinant in receiver operating characteristic (ROC) analyses. Results Specific target VOIs were determined in the bilateral frontal subcortical WM for CBS and in the midbrain tegmentum for RS. In ROC analyses, the target VOIs of CBS and RS compared to those of controls exhibited an area under curve (AUC) of 0.99 and 0.84, respectively, which indicated an adequate diagnostic power. The VOI of CBS revealed a higher AUC than that of RS for differentiating between CBS and RS (AUC, 0.75 vs 0.53). Conclusions Bilateral frontal WM volume reduction demonstrated a higher power for differentiating CBS from RS. This VOI analysis is useful for clinically diagnosing CBS and RS.

  1. Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome

    PubMed Central

    MacKinnon, Sarah; Oystreck, Darren T.; Andrews, Caroline; Chan, Wai-Man; Hunter, David G.; Engle, Elizabeth C.

    2014-01-01

    Objective To improve diagnostic assessment in Moebius syndrome by (1) creating more selective diagnostic subgroups and (2) conducting genetic evaluation in a large patient cohort. Design Prospective, observational study. Participants Attendees of 3 consecutive Moebius Syndrome conferences held in the United States, with a prior diagnosis of Moebius syndrome were invited to participate. Methods Participants underwent standardized ophthalmologic examination for Moebius syndrome minimum diagnostic criteria (MDC) (congenital, nonprogressive facial palsy and abduction deficit) and genetic testing for HOXA1, HOXB1, and TUBB3 mutations. Main Outcome Measures Number of patients meeting MDC and number with confirmed genetic mutation. Results A total of 112 participants from 107 families enrolled. Nineteen percent of participants (21/112) did not meet accepted MDC for Moebius syndrome because they had abduction deficits without facial palsy or facial palsy with full ocular motility. All five families with two affected individuals had at least one family member in this category, including two siblings with comitant strabismus who harbored a HOXB1 mutation. Four unrelated participants, also not meeting MDC, had large-angle exotropia, vertical gaze deficiency, and ptosis consistent with congenital fibrosis of the extraocular muscles type 3 (CFEOM3); 1 harbored a novel and 3 harbored previously reported de novo TUBB3 mutations. Three percent of participants (3/112) met MDC but also had restricted vertical gaze. The remaining 88 participants (79%) met MDC and had full vertical gaze. This group had relatively homogeneous findings and none had a family history of Moebius syndrome. Two previously undescribed phenomena were observed in this category: 1) volitional Bell’s phenomenon, and 2) intorsion with fixation. Conclusions While the genetic contributors to classic Moebius syndrome remain elusive, accuracy in clinical evaluation will properly subdivide patients to facilitate genetic testing as new candidate genes are identified. Failure to test ocular motility may lead to misdiagnosis of Moebius syndrome, especially in patients who have facial palsy with full ductions. Patients with exotropia, vertical gaze limitation, and ptosis do not have classic Moebius syndrome and may have TUBB3 mutations associated with CFEOM3. To optimize genetic analysis, we propose adding “full vertical motility” to the minimum diagnostic criteria for Moebius syndrome. PMID:24612975

  2. Crowned dens syndrome diagnosed on ą?F-FDG PET/CT.

    PubMed

    Monet, Antoine; Massonnat, Richard; Merino, Bertrand; Riviere, Annalisa; Richez, Christophe

    2014-12-01

    An 87-year-old woman with corticosteroid-resistant polymyalgia rheumatica underwent ą?F-FDG PET/CT for suspected giant cell arteritis or neoplastic disease. FDG uptake in the immediate vicinity of the odontoid process, with a crownlike calcification, was identified on the CT scan on the posterior side of the dens, thus confirming the diagnosis of crowned dens syndrome. Because this rare syndrome is frequently misdiagnosed, nuclear physicians should be aware of the signs and symptoms of this condition, which may call for the use of PET/CT imagery. PMID:25243939

  3. A case of antiphospholipid antibody syndrome diagnosed after thrombosis of an arteriovenous shunt.

    PubMed

    Naito, T; Yorioka, N; Kyuden, Y; Yamashita, K; Ueda, C; Usui, K; Shigemoto, K; Harada, S; Yamakido, M

    1999-08-01

    A 32-year-old male dialysis patient with lupus nephritis was admitted because of shunt obstruction. The arteriovenous fistula was reconstructed, but obstruction recurred twice within several hours after surgery. A high blood level of anticardiolipin beta2-glycoprotein I antibody suggested that shunt obstruction was caused by a thrombotic tendency related to the antiphospholipid antibody syndrome. Accordingly, for the third shunt procedure, antiplatelet therapy (which had been commenced for systemic lupus erythematosus) was combined with dalteparin sodium from before surgery and warfarin was added postoperatively. This regimen prevented shunt obstruction. In conclusion, hemodialysis patients who suffer repeated shunt obstruction should be examined for antiphospholipid antibody syndrome. PMID:10533910

  4. Normal for an Asperger: Notions of the Meanings of Diagnoses among Adults with Asperger Syndrome

    ERIC Educational Resources Information Center

    Rosqvist, Hanna Bertilsdotter

    2012-01-01

    This study explores the production of a counterhegemonic discourse of "autistic normalcy" among adults with high-functioning autism by analyzing notions of diagnosis. The discourse analyses are based on material from ethnographic fieldwork in a Swedish educational setting. Study participants were 3 male and 9 female adults who had been diagnosed

  5. Prevalence of Diagnosed Tourette Syndrome in Persons Aged 6-17 Years--United States, 2007

    ERIC Educational Resources Information Center

    Centers for Disease Control and Prevention, 2009

    2009-01-01

    Tourette syndrome (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple motor tics and at least one vocal tic. Tics are involuntary, repetitive, stereotypic movements or vocalizations that are usually sudden and rapid and often can be suppressed for short periods. The prevalence of TS is uncertain; the broad…

  6. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

    Microsoft Academic Search

    Bernardo Ochoa

    2004-01-01

    During the last 40 years over 100 patients have been reported with a dysfunctional lower urinary tract associated with a peculiar distortion of the facial expression. This most unusual disorder was initially considered a local observation. Time, however, has proven otherwise, since patients with this syndrome have now been reported from various countries throughout the world. This association of lower urinary

  7. A Respiratory Movement Monitoring System Using Fiber-Grating Vision Sensor for Diagnosing Sleep Apnea Syndrome

    NASA Astrophysics Data System (ADS)

    Takemura, Yasuhiro; Sato, Jun-Ya; Nakajima, Masato

    2005-01-01

    A non-restrictive and non-contact respiratory movement monitoring system that finds the boundary between chest and abdomen automatically and detects the vertical movement of each part of the body separately is proposed. The system uses a fiber-grating vision sensor technique and the boundary position detection is carried out by calculating the centers of gravity of upward moving and downward moving sampling points, respectively. In the experiment to evaluate the ability to detect the respiratory movement signals of each part and to discriminate between obstructive and central apneas, detected signals of the two parts and their total clearly showed the peculiarities of obstructive and central apnea. The cross talk between the two categories classified automatically according to several rules that reflect the peculiarities was ? 15%. This result is sufficient for discriminating central sleep apnea syndrome from obstructive sleep apnea syndrome and indicates that the system is promising as screening equipment. Society of Japan

  8. Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

    Microsoft Academic Search

    Rob Willemsen; Arie Smits; Serieta Mohkamsing; Hetty van Beerendonk; Anton de Haan; Bert de Vries; Ans van den Ouweland; Erik Sistermans; Hans Galjaard; Ben A. Oostra

    1997-01-01

    To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means\\u000a of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat\\u000a and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody

  9. How Is Heart Disease Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Heart Disease Diagnosed? Your doctor will diagnose coronary heart ... the artery walls. Tests Used To Diagnose Broken Heart Syndrome If your doctor thinks you have broken ...

  10. Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease

    PubMed Central

    Kurukumbi, Mohankumar; Castellanos, Maria I.; Crawford, Amanda K.; Gowdar, Shreyas D.; Jayam-Trouth, Annapurni

    2013-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, and sepsis. This is a case report of a 39-year-old woman with untreated HIV infection and end-stage renal disease (ESRD) who developed PRES with a normal blood pressure and no other known causes of PRES. Untreated HIV is associated with known endothelial dysfunction and we believe that this, in combination with her untreated end-stage renal disease, contributed to her unique presentation of PRES. Although uncommon in HIV-infected patients and challenging to diagnose, prompt recognition of PRES is critical to provide appropriate care and ensure reversibility of the vasogenic edema seen in PRES. PMID:23738165

  11. Sudden Infant Death Syndrome in Korea: A Retrospective Analysis of Autopsy-Diagnosed Cases

    PubMed Central

    Yoo, Seong Ho; Kim, Angela Julie; Kang, Shin-Mong; Lee, Han Young; Seo, Joong-Seok; Kwon, Tae Jung

    2013-01-01

    This study aimed to elucidate the demographic and sleeping environmental factors associated with sudden infant death syndrome (SIDS) in Korea. The autopsy reports of all SIDS cases reported to the National Forensic Service and Seoul National University College of Medicine between 1996 and 2008 were reviewed for data collection and analysis to identify the risk factors for SIDS. Analysis of the 355 SIDS cases reported within the study period revealed that of the 168 (47.3%) cases for which sleeping position before death had been reported, 75 (44.7%) cases had occurred after placement in prone or side position. Of the 204 (57.5%) cases for which bed-sharing situation had been reported, 121 (59.3%) deaths had occurred during bed-sharing, of which 54 (44.6%) infants were under 3 months of age, a significantly younger age than that of the non-bed-sharing cases (P = 0.0279). Analysis of the results indicated no tendency toward an increase or decrease in the use of a prone or side position. Rather, there was a statistically significant increasing trend for bed-sharing over the study period (OR, 1.087; 95% CI, 1.004-1.177; P = 0.04). These findings indicate the need for nationwide educational programs promoting a safe sleeping environment to enhance SIDS prevention. PMID:23487503

  12. Sickness Absence from Work among Persons with New Physician-Diagnosed Carpal Tunnel Syndrome: A Population-Based Matched-Cohort Study

    PubMed Central

    Atroshi, Isam; Zhou, Caddie; Jöud, Anna; Petersson, Ingemar F.; Englund, Martin

    2015-01-01

    Background Carpal tunnel syndrome is common among employed persons. Data on sickness absence from work in relation to carpal tunnel syndrome have been usually based on self-report and derived from clinical or occupational populations. We aimed to determine sickness absence among persons with physician-diagnosed carpal tunnel syndrome as compared to the general population. Methods In Skĺne region in Sweden we identified all subjects, aged 17–57 years, with new physician-made diagnosis of carpal tunnel syndrome during 5 years (2004–2008). For each subject we randomly sampled, from the general population, 4 matched reference subjects without carpal tunnel syndrome; the two cohorts comprised 5456 and 21,667 subjects, respectively (73% women; mean age 43 years). We retrieved social insurance register data on all sickness absence periods longer than 2 weeks from 12 months before to 24 months after diagnosis. Of those with carpal tunnel syndrome 2111 women (53%) and 710 men (48%) underwent surgery within 24 months of diagnosis. We compared all-cause sickness absence and analyzed sickness absence in conjunction with diagnosis and surgery. Results Mean number of all-cause sickness absence days per each 30-day period from 12 months before to 24 months after diagnosis was significantly higher in the carpal tunnel syndrome than in the reference cohort. A new sickness absence period longer than 2 weeks in conjunction with diagnosis was recorded in 12% of the women (n = 492) and 11% of the men (n = 170) and with surgery in 53% (n = 1121) and 58% (n = 408) of the surgically treated, respectively; median duration in conjunction with surgery was 35 days (IQR 27–45) for women and 41 days (IQR 28–50) for men. Conclusions Persons with physician-diagnosed carpal tunnel syndrome have substantially more sickness absence from work than age and sex-matched persons from the general population from1 year before to 2 years after diagnosis. Gender differences were small. PMID:25803841

  13. A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

    PubMed Central

    Uysalol, Metin; Tatl?, Burak; Uzel, Nedret; Ç?tak, Agop; Aygün, Erhan; Kayao?lu, Semra

    2013-01-01

    Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in contrast to those whose recovery period prolongs in spite of early diagnosis and appropriate treatment and/or those who experience incomplete recovery. Conclusion: In summary, diagnosis of PCB variant of GBS should be considered in infants with sudden onset bulbar symptoms and muscle weakness, and it should be kept in mind that early diagnosis and appropriate treatment can give successful outcomes. PMID:25207134

  14. Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome

    PubMed Central

    2014-01-01

    Background The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and females with AS have distinct proteomic changes in serum. Methods Here, we analysed sera from adults diagnosed with AS (males?=?14, females?=?16) and controls (males?=?13, females?=?16) not on medication at the time of sample collection, using a combination of multiplex immunoassay and shotgun label-free liquid chromatography mass spectrometry (LC-MSE). The main objective was to identify sex-specific serum protein changes associated with AS. Results Multiplex immunoassay profiling led to identification of 16 proteins that were significantly altered in AS individuals in a sex-specific manner. Three of these proteins were altered in females (ADIPO, IgA, APOA1), seven were changed in males (BMP6, CTGF, ICAM1, IL-12p70, IL-16, TF, TNF-alpha) and six were changed in both sexes but in opposite directions (CHGA, EPO, IL-3, TENA, PAP, SHBG). Shotgun LC-MSE profiling led to identification of 13 serum proteins which had significant sex-specific changes in the AS group and, of these, 12 were altered in females (APOC2, APOE, ARMC3, CLC4K, FETUB, GLCE, MRRP1, PTPA, RN149, TLE1, TRIPB, ZC3HE) and one protein was altered in males (RGPD4). The free androgen index in females with AS showed an increased ratio of 1.63 compared to controls. Conclusion Taken together, the serum multiplex immunoassay and shotgun LC-MSE profiling results indicate that adult females with AS had alterations in proteins involved mostly in lipid transport and metabolism pathways, while adult males with AS showed changes predominantly in inflammation signalling. These results provide further evidence that the search for biomarkers or novel drug targets in AS may require stratification into male and female subgroups, and could lead to the development of novel targeted treatment approaches. PMID:24467795

  15. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic (met-ah-BOL-ik) syndrome is the ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  16. Pomalidomide After Combination Chemotherapy in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome

    ClinicalTrials.gov

    2015-05-06

    Adult Acute Megakaryoblastic Leukemia; Adult Acute Monoblastic Leukemia; Adult Acute Monocytic Leukemia; Adult Acute Myeloid Leukemia With Maturation; Adult Acute Myeloid Leukemia With Minimal Differentiation; Adult Acute Myeloid Leukemia Without Maturation; Adult Acute Myelomonocytic Leukemia; Adult Erythroleukemia; Adult Pure Erythroid Leukemia; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Untreated Adult Acute Myeloid Leukemia

  17. A study of rasburicase for the management of hyperuricemia in pediatric patients with newly diagnosed hematologic malignancies at high risk for tumor lysis syndrome

    Microsoft Academic Search

    Akira Kikuchi; Hisato Kigasawa; Masahito Tsurusawa; Keisei Kawa; Atsushi Kikuta; Masahiro Tsuchida; Yoshihisa Nagatoshi; Keiko Asami; Keizo Horibe; Atsushi Makimoto; Ichiro Tsukimoto

    2009-01-01

    Tumor lysis syndrome (TLS), including hyperuricemia, is a frequent serious complication in patients with hematologic malignancies.\\u000a This study in Japanese patients evaluated the efficacy, safety, and pharmacokinetic profile of rasburicase in pediatric patients\\u000a with hematologic malignancies. Patients aged <18 years at high risk for TLS, with newly diagnosed hematologic malignancies,\\u000a were randomized to intravenous rasburicase 0.15 mg\\/kg\\/day (n = 15) or 0.20 mg\\/kg\\/day (n = 15) for

  18. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

    PubMed

    Wenger, Tara L; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P; Barnett, Sarah S; Ganetzky, Rebecca; McDonald-McGinn, Donna M; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, Elena; Romano, Silvia; Cocchi, Guido; Savasta, Salvatore; Malbora, Baris; Marangi, Giuseppe; Garavelli, Livia; Zollino, Marcella; Zackai, Elaine H

    2014-10-01

    Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly. Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia. These cases may be more difficult to diagnose. In this report, we add 28 MWS patients with molecular confirmation of ZEB2 mutation, including seven with an uncommon presenting feature. Among the "unusual" patients, two patients had clinical features of charge syndrome including choanal atresia, coloboma, cardiac defects, genitourinary anomaly (1/2), and severe intellectual disability; two patients had craniosynostosis; and three patients had mild intellectual disability. Sixteen patients have previously-unreported mutations in ZEB2. Genotype-phenotype correlations were suggested in those with mild intellectual disability (two had a novel missense mutation in ZEB2, one with novel splice site mutation). This report increases the number of reported patients with MWS with unusual features, and is the first report of MWS in children previously thought to have CHARGE syndrome. These patients highlight the importance of facial gestalt in the accurate identification of MWS when less common features are present. PMID:25123255

  19. Signs and symptoms in diagnosing acute myocardial infarction and acute coronary syndrome: a diagnostic meta-analysis

    PubMed Central

    Bruyninckx, Rudi; Aertgeerts, Bert; Bruyninckx, Pieter; Buntinx, Frank

    2008-01-01

    Background Prompt diagnosis of acute myocardial infarction or acute coronary syndrome is very important. Aim A systematic review was conducted to determine the accuracy of 10 important signs and symptoms in selected and non-selected patients. Design of study Diagnostic meta-analysis. Method Using MEDLINE, CINAHL, EMBASE, tracing references, and by contacting experts, studies were sought out that described one of the 10 signs and symptoms on one or both conditions. Studies were excluded if they were not based on original data. Validity was assessed using QUADAS and all data were pooled using a random effects model. Results Sixteen of the 28 included studies were about patients who were non-selected. In this group, absence of chest-wall tenderness on palpation had a pooled sensitivity of 92% (95% confidence interval [CI] = 86 to 96) for acute myocardial infarction and 94% (95% CI = 91 to 96) for acute coronary syndrome. Oppressive pain followed with a pooled sensitivity of 60% (95% CI = 55 to 66) for acute myocardial infarction. Sweating had the highest pooled positive likelihood ratio (LR+), namely 2.92 (95% CI = 1.97 to 4.23) for acute myocardial infarction. The other pooled LR+ fluctuated between 1.05 and 1.49. Negative LRs (LR?) varied between 0.98 and 0.23. Absence of chest-wall tenderness on palpation had a LR? of 0.23 (95% CI = 0.18 to 0.29). Conclusions Based on this meta-analysis it was not possible to define an important role for signs and symptoms in the diagnosis of acute myocardial infarction or acute coronary syndrome. Only chest-wall tenderness on palpation largely ruled out acute myocardial infarction or acute coronary syndrome in low-prevalence settings. PMID:18307844

  20. Diagnosing active inflammation in the SAPHO syndrome using 18 FDG-PET\\/CT in suspected metastatic vertebral bone tumors

    Microsoft Academic Search

    Kentaro Inoue; Tatsuo Yamaguchi; Hiroshi Ozawa; Ken Okada; Yasuyuki Taki; Ryoi Goto; Shigeo Kinomura; Tomohiro Kaneta; Hiroshi Fukuda

    2007-01-01

    The vertebral spine is frequently affected by the SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome.\\u000a We report the collective imaging findings of hybrid F-18 fluorodeoxyglucose-positron emission tomography\\/computed tomography\\u000a (18FDG-PET\\/CT), as well as bone scans and magnetic resonance imaging, in a patient who had suspected metastatic vertebral bone\\u000a tumors. 18FDG-PET\\/CT can be utilized to exclude metastatic vertebral tumors, as well

  1. Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome

    PubMed Central

    Dasgupta, Debdeep; Patra, Dipak Kumar; De, Angshuman; Mallick, Barindranath

    2015-01-01

    The sufferers of complete androgen insensitivity syndrome (CAIS) are phenotypic females despite of having functional testes and normal male karyotype. They usually present late with primary amenorrhea but delayed diagnosis increases chance of gonadal malignancy. Alertness for this entity is crucial as with early diagnosis such disorder can be managed more appropriately for a better future. We hereby describe a case of CAIS in an 8-year-old girl presented with bilateral inguinal swellings. Endocrinological analysis, radiological investigations and cytogenetic studies were done. Investigations revealed absence of female internal genitalia. Karyotyping and molecular study confirmed the presence of Y chromosome. Parents were counseled regarding timely gonadectomy, fertility and other long term social issues. PMID:26023570

  2. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

    PubMed Central

    He, Miao; Kratz, Lisa E.; Michel, Joshua J.; Vallejo, Abbe N.; Ferris, Laura; Kelley, Richard I.; Hoover, Jacqueline J.; Jukic, Drazen; Gibson, K. Michael; Wolfe, Lynne A.; Ramachandran, Dhanya; Zwick, Michael E.; Vockley, Jerry

    2011-01-01

    Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. This gene encodes a sterol-C4-methyl oxidase (SMO), which catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway. C4-Methylsterols are meiosis-activating sterols (MASs). They exist at high concentrations in the testis and ovary and play roles in meiosis activation. In this study, we found that an accumulation of MASs in the patient led to cell overproliferation in both skin and blood. SMO deficiency also substantially altered immunocyte phenotype and in vitro function. MASs serve as ligands for liver X receptors ? and ? (LXR? and LXR?), which are important in regulating not only lipid transport in the epidermis, but also innate and adaptive immunity. Deficiency of SMO represents a biochemical defect in the cholesterol synthesis pathway, the clinical spectrum of which remains to be defined. PMID:21285510

  3. Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells[S

    PubMed Central

    Xu, Libin; Korade, Zeljka; Rosado, Dale A.; Mirnics, Karoly; Porter, Ned A.

    2013-01-01

    Recent studies suggest that 7-dehydrocholesterol (7-DHC)-derived oxysterols play important roles in the pathophysiology of Smith-Lemli-Opitz syndrome (SLOS), a metabolic disorder that is caused by defective 3?-hydroxysterol-?7-reductase (DHCR7). Although 14 oxysterols have been identified as the primary products of 7-DHC autoxidation in organic solution, the metabolic fate of these oxysterols in a biological environment has not yet been elucidated. Therefore, we incubated these primary 7-DHC oxysterols in control Neuro2a and control human fibroblast cells and identified metabolites of these oxysterols by HPLC-MS. We also incubated Dhcr7-deficient Neuro2a cells and fibroblasts from SLOS patients with isotopically labeled 7-DHC (d7-7-DHC). The observation of matching d0- and d7 peaks in HPLC-MS confirmed the presence of true metabolites of 7-DHC after excluding the possibility of ex vivo oxidation. The metabolites of primary 7-DHC oxysterols were found to contribute to the majority of the metabolic profile of 7-DHC in cells. Furthermore, based on this new data, we identified three new 7-DHC-derived metabolites in the brain of Dhcr7-KO mice. Our studies suggest that 7-DHC peroxidation is a major source of oxysterols observed in cells and in vivo and that the stable metabolites of primary 7-DHC oxysterols can be used as markers of 7-DHC peroxidation in these biological systems. PMID:23381570

  4. Free radical oxidation of cholesterol and its precursors: Implications in cholesterol biosynthesis disorders

    PubMed Central

    Xu, L.; Porter, N. A.

    2015-01-01

    Free radical oxidation of cholesterol and its precursors contribute significantly to the pathophysiology of a number of human diseases. This review intends to summarize recent developments and provide a perspective on the reactivities of sterols toward free radical oxidation, the free radical reaction mechanism, and the biological consequences of oxysterols derived from the highly oxidizable cholesterol precursor, 7-dehydrocholesterol. We propose that the rigid structures, additional substituents on the double bonds, and the well-aligned reactive C–H bonds in sterols make them more prone to free radical oxidation than their acyclic analogs found in unsaturated fatty acids. The mechanism of sterol peroxidation follows some well-established reaction pathways found in the free radical peroxidation of polyunsaturated fatty acids, but sterols also undergo some reactions that are unique to these compounds. Peroxidation of 7-dehydrocholesterol gives arguably the most diverse set of oxysterol products that have been observed to date. The metabolism of these oxysterols in cells and the biological consequences of their formation will be discussed in the context of the pathophysiology of the human disease Smith–Lemli–Opitz syndrome. Considering the high reactivity of sterols, we propose that a number of other cholesterol biosynthesis disorders may be associated with oxidative stress. PMID:25381800

  5. A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans[S

    PubMed Central

    van de Pas, Niek C. A.; Woutersen, Ruud A.; van Ommen, Ben; Rietjens, Ivonne M. C. M.; de Graaf, Albert A.

    2012-01-01

    Increased plasma cholesterol concentration is associated with increased risk of cardiovascular disease. This study describes the development, validation, and analysis of a physiologically based kinetic (PBK) model for the prediction of plasma cholesterol concentrations in humans. This model was directly adapted from a PBK model for mice by incorporation of the reaction catalyzed by cholesterol ester transfer protein and contained 21 biochemical reactions and eight different cholesterol pools. The model was calibrated using published data for humans and validated by comparing model predictions on plasma cholesterol levels of subjects with 10 different genetic mutations (including familial hypercholesterolemia and Smith-Lemli-Opitz syndrome) with experimental data. Average model predictions on total cholesterol were accurate within 36% of the experimental data, which was within the experimental margin. Sensitivity analysis of the model indicated that the HDL cholesterol (HDL-C) concentration was mainly dependent on hepatic transport of cholesterol to HDL, cholesterol ester transfer from HDL to non-HDL, and hepatic uptake of cholesterol from non-HDL-C. Thus, the presented PBK model is a valid tool to predict the effect of genetic mutations on cholesterol concentrations, opening the way for future studies on the effect of different drugs on cholesterol levels in various subpopulations in silico. PMID:23024287

  6. Flow cytometric analysis of myelomonocytic cells by a pattern recognition approach is sensitive and specific in diagnosing myelodysplastic syndrome and related marrow diseases: Emphasis on a global evaluation and recognition of diagnostic pitfalls

    Microsoft Academic Search

    Dariusz Stachurski; Brian R. Smith; Olga Pozdnyakova; Mary Andersen; Zhefu Xiao; Azra Raza; Bruce A. Woda; Sa A. Wang

    2008-01-01

    Published data on flow cytometry (FCM) in diagnosing myelodysplastic syndromes (MDS) varies greatly in analytic methods and interpretational approaches. We tested the diagnostic utility of the pattern recognition approach by a retrospective review of 180 MDS, 31 myelodysplastic\\/myeloproliferative disease (MDS\\/MPD), 37 non-MDS cytopenia and 20 myeloproliferative disease (MPD) cases. Cases were placed into “positive”, “intermediate”, and “negative” FCM categories based

  7. Tourette Syndrome (For Parents)

    MedlinePLUS

    ... help their child cope with the condition. About Tourette Syndrome Tourette syndrome (TS) is named for French ... people with TS. Back Continue Diagnosing and Treating Tourette Syndrome Pediatricians and family doctors may refer a ...

  8. How Are Myelodysplastic Syndromes Diagnosed?

    MedlinePLUS

    ... is fluorescent in situ hybridization – more commonly called FISH. In FISH, specific gene sequences are tagged with a fluorescent ... or even a certain translocation. An advantage of FISH is that it doesn’t require actively dividing ...

  9. Newly Diagnosed?

    MedlinePLUS

    ... Suggestions Examine Your Skin Newly Diagnosed? Understanding Your Pathology Biopsy: The First Step Sentinel Node Biopsy Finding ... start this journey: Get a copy of your pathology report. We can help you understand the report ...

  10. Why Metabolic Syndrome Matters

    MedlinePLUS

    Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  11. Diagnosing Flu

    MedlinePLUS

    ... your symptoms and their clinical judgment. Will my health care provider test me for flu if I have flu-like ... flu symptoms do not require testing because the test results usually do not change how you are treated. Your health care provider may diagnose you with flu based on ...

  12. Relapsing polychondritis, smouldering non-secretory myeloma and early myelodysplastic syndrome in the same patient: three difficult diagnoses produce a life threatening illness

    Microsoft Academic Search

    Rachel Hall; Neil Hopkinson; Terry Hamblin

    2000-01-01

    Multiple myeloma, relapsing polychondritis and myelodysplastic syndrome are all serious diseases in which making a clear diagnosis can be difficult. This case of a 72-year-old man found after extensive investigation to have all three of the above, demonstrates how difficult diagnosis and treatment can be, producing in this case a life threatening clinical syndrome. We also postulate that the association

  13. How Do Health Care Providers Diagnose Adrenal Gland Disorders?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose adrenal gland disorders? Skip sharing on ... and urine tests. 1 Cushing’s Syndrome If a health care provider suspects Cushing’s syndrome, he or she may ...

  14. Tips to diagnose uncommon nail disorders.

    PubMed

    Schneider, Samantha L; Tosti, Antonella

    2015-04-01

    This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. Diagnostic clues are emphasized to familiarize readers with features that indicate the correct diagnosis. We focus on two common tumors (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (Darier disease and nail patella syndrome), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus). PMID:25828712

  15. Filgrastim, Cladribine, Cytarabine, and Mitoxantrone Hydrochloride in Treating Patients With Newly Diagnosed or Relapsed/Refractory Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndromes

    ClinicalTrials.gov

    2015-02-18

    Adult Acute Megakaryoblastic Leukemia; Adult Acute Monoblastic Leukemia; Adult Acute Monocytic Leukemia; Adult Acute Myeloid Leukemia With Inv(16)(p13.1q22); CBFB-MYH11; Adult Acute Myeloid Leukemia With Maturation; Adult Acute Myeloid Leukemia With Minimal Differentiation; Adult Acute Myeloid Leukemia With t(16;16)(p13.1;q22); CBFB-MYH11; Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1; Adult Acute Myeloid Leukemia With t(9;11)(p22;q23); MLLT3-MLL; Adult Acute Myeloid Leukemia Without Maturation; Adult Acute Myelomonocytic Leukemia; Adult Erythroleukemia; Adult Pure Erythroid Leukemia; Alkylating Agent-Related Acute Myeloid Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndrome; Untreated Adult Acute Myeloid Leukemia

  16. Alport Syndrome Foundation

    MedlinePLUS

    ... I really did not worry much about it. John‘s Story John was diagnosed with Alport Syndrome when he was ... typical with many families affected by Alport Syndrome, John is not the only family member with the ...

  17. The application of Reiki in nurses diagnosed with Burnout Syndrome has beneficial effects on concentration of salivary IgA and blood pressure.

    PubMed

    Díaz-Rodríguez, Lourdes; Arroyo-Morales, Manuel; Cantarero-Villanueva, Irene; Férnandez-Lao, Carolina; Polley, Marie; Fernández-de-las-Peńas, César

    2011-01-01

    This study aimed to investigate the immediate effects of the secretory immunoglobulin A (sIgA), ?-amylase activity and blood pressure levels after the application of a Reiki session in nurses with Burnout Syndrome. A randomized, double-blind, placebo-controlled, crossover design was conducted to compare the immediate effects of Reiki versus control intervention (Hand-off sham intervention) in nurses with Burnout Syndrome. Sample was composed of eighteen nurses (aged 34-56 years) with burnout syndrome. Participants were randomly assigned to receive either a Reiki treatment or a placebo (sham Reiki) treatment, according to the established order in two different days. The ANOVA showed a significant interaction time x intervention for diastolic blood pressure (F=4.92, P=0.04) and sIgA concentration (F=4.71, P=0.04). A Reiki session can produce an immediate and statistically significant improvement in sIgA concentration and diastolic blood pressure in nurses with Burnout Syndrome. PMID:22030577

  18. Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis

    PubMed Central

    2013-01-01

    In 1937 Butler and Marrian found large amounts of the steroid pregnanetriol in urine from a patient with the adrenogenital syndrome, a virilizing condition known to be caused by compromised adrenal secretion even in this pre-cortisol era. This introduced the concept of the study of altered excretion of metabolites as an in vivo tool for understanding sterol and steroid biosynthesis. This approach is still viable and has experienced renewed significance as the field of metabolomics. From the first cyclized sterol lanosterol to the most downstream product estradiol, there are probably greater than 30 steps. Based on a distinctive metabolome clinical disorders have now been attributed to about seven post-squalene cholesterol (C) biosynthetic steps and around 15 en-route to steroid hormones or needed for further metabolism of such hormones. Forty years ago it was widely perceived that the principal steroid biosynthetic defects were known but interest rekindled as novel metabolomes were documented. In his career this investigator has been involved in the study of many steroid disorders, the two most recent being P450 oxidoreductase deficiency and apparent cortisone reductase deficiency. These are of interest as they are due not to mutations in the primary catalytic enzymes of steroidogenesis but in ancillary enzymes needed for co-factor oxido-reduction A third focus of this researcher is Smith-Lemli-Opitz syndrome (SLOS), a cholesterol synthesis disorder caused by 7-dehydrocholesterol reductase mutations. The late George Schroepfer, in whose honor this article has been written, contributed greatly to defining the sterol metabolome of this condition. Defining the cause of clinically severe disorders can lead to improved treatment options. We are now involved in murine gene therapy studies for SLOS which, if successful could in the future offer an alternative therapy for this severe condition. PMID:21874273

  19. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype

    SciTech Connect

    Bielanska, M.M.; Khalifa, M.M.; Duncan, A.M.V. [Queen`s Univ., Kingston, Ontario (Canada)] [Queen`s Univ., Kingston, Ontario (Canada)

    1996-10-16

    Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Fluorescence in situ hybridization (FISH) was used to demonstrate that the supernumerary marker chromosome identified in the patient`s fibroblasts was an isochromosome 12p. This study broadens the spectrum of PKS phenotype. It also illustrates the usefulness of fluorescence in situ hybridization in diagnosis of patients with chromosomal abnormalities and mild or atypical clinical findings. 40 refs., 2 figs., 1 tab.

  20. Clinical validity of the descriptor. "presence of a belief that one must eat in order to get to sleep" in diagnosing the Night Eating Syndrome.

    PubMed

    Vinai, Piergiuseppe; Cardetti, Silvia; Studt, Stacia; Carpegna, Gabriella; Ferrato, Noemi; Vallauri, Paola; Casey, Halpern; Vinai, Luisa; Vinai, Paolo; Ferini Strambi, Luigi; Speciale, Maurizio; Manconi, Mauro

    2014-04-01

    The diagnostic criteria for the Night Eating Syndrome (NES) published in 2010 require the presence of two core criteria: evening hyperphagia and/or nocturnal awakenings for ingestion of food and three of five diagnostic descriptors. One of the descriptors is as follows: "The belief that one must eat in order to fall asleep". In this study we evaluated whether this conviction is significantly more prominent in obese individuals suffering from insomnia and nocturnal eating, than among obese patients with insomnia who do not eat at night. Ninety-eight obese subjects afflicted by insomnia were included in this study. Eight were affected by NES, 33 by Binge Eating Disorder (BED), and 13 by both BED and NES. Subjects' insomnia and sleep disturbances were assessed using the Insomnia Severity Index and the Sleep Disturbance Questionnaire. The presence of the belief that one must eat at night in order to sleep was evaluated with the question: "Do you need to eat in order to get back to sleep when you wake up at night?" Patients affected by NES and by both BED and NES were convinced that nocturnal food intake was necessary in order to fall back asleep after a night time awakening. The presence of this belief seemed to be a critical factor in identifying the presence of the Night Eating Syndrome among obese subjects suffering from insomnia. PMID:24361311

  1. A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test.

    PubMed

    Ueda, Kohei; Makita, Noriko; Kawarazaki, Hiroo; Fujiwara, Takayuki; Unuma, Satoshi; Monkawa, Toshiaki; Hayashi, Matsuhiko; Fujita, Toshiro

    2012-01-01

    Gitelman's syndrome (GS), an inherited disorder due to loss of function of ion channels and transporters such as Na-Cl co-transporter (NCCT) in distal convoluted tubules, is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hyperreninemic-hyperaldosteronism. A 39-year-old man was admitted to our hospital because of muscle weakness with such intractable disorders. We performed a thiazide-loading test, which revealed a poor response of the fractional excretion rate of chloride compared to healthy subjects. Based on these data, the clinical diagnosis of GS was made. Gene-sequencing analysis revealed compound heterozygous mutations of c.539C > A and c.1844C > T in SLC12A3, which is newly reported in Japanese GS. PMID:22728489

  2. Repression of Smoothened by Patched-Dependent (Pro-)Vitamin D3 Secretion

    PubMed Central

    Spek, C. Arnold; Zivkovic, Danica; van de Water, Sandra; Rezaee, Farhad; Peppelenbosch, Maikel P

    2006-01-01

    The developmentally important hedgehog (Hh) pathway is activated by binding of Hh to patched (Ptch1), releasing smoothened (Smo) and the downstream transcription factor glioma associated (Gli) from inhibition. The mechanism behind Ptch1-dependent Smo inhibition remains unresolved. We now show that by mixing Ptch1-transfected and Ptch1 small interfering RNA–transfected cells with Gli reporter cells, Ptch1 is capable of non–cell autonomous repression of Smo. The magnitude of this non–cell autonomous repression of Smo activity was comparable to the fusion of Ptch1-transfected cell lines and Gli reporter cell lines, suggesting that it is the predominant mode of action. CHOD-PAP analysis of medium conditioned by Ptch1-transfected cells showed an elevated 3?-hydroxysteroid content, which we hypothesized to mediate the Smo inhibition. Indeed, the inhibition of 3?-hydroxysteroid synthesis impaired Ptch1 action on Smo, whereas adding the 3?-hydroxysteroid (pro-)vitamin D3 to the medium effectively inhibited Gli activity. Vitamin D3 bound to Smo with high affinity in a cyclopamine-sensitive manner. Treating zebrafish embryos with vitamin D3 mimicked the smo –/– phenotype, confirming the inhibitory action in vivo. Hh activates its signalling cascade by inhibiting Ptch1-dependent secretion of the 3?-hydroxysteroid (pro-)vitamin D3. This action not only explains the seemingly contradictory cause of Smith-Lemli-Opitz syndrome (SLOS), but also establishes Hh as a unique morphogen, because binding of Hh on one cell is capable of activating Hh-dependent signalling cascades on other cells. PMID:16895439

  3. How Is Asthma Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Asthma Diagnosed? Your primary care doctor will diagnose asthma ... other disease may be causing your symptoms. Diagnosing Asthma in Young Children Most children who have asthma ...

  4. Vitamin E and selenium levels are within normal range in pigs diagnosed with mulberry heart disease and evidence for viral involvement in the syndrome is lacking.

    PubMed

    Shen, H; Thomas, P R; Ensley, S M; Kim, W-I; Loynachan, A T; Halbur, P G; Opriessnig, T

    2011-12-01

    Mulberry heart disease (MHD) in pigs is characterized by lesions of acute haemorrhagic myocarditis and myocardial necrosis. The objectives of this study were to determine the levels of vitamin E and selenium and 13 other trace minerals in heart and liver tissues and to determine the prevalence of certain viral infections in heart tissues from MHD-affected and MHD-unaffected pigs and the vitamin E and selenium concentration in feed samples from selected farms with MHD. Based on the pathological examination, 114 pigs were separated into MHD lesion-negative (L-NEG) (n?=?57) and MHD lesion-positive (L-POS) (n?=?57) groups. Seventy-three samples (40?L-NEG and 33?L-POS) were subjected to chemical analysis, and 66 (32?L-NEG and 34?L-POS) were subjected to PCR detection for viral pathogens. Lower (P?syndrome virus, pan-herpes virus, porcine enterovirus, pan-pestivirus and porcine parvovirus, respectively. Clear evidence of viral association with L-POS was lacking. PMID:21518323

  5. Non-invasive neurosensory testing used to diagnose and confirm successful surgical management of lower extremity deep distal posterior compartment syndrome

    PubMed Central

    2009-01-01

    Background Chronic exertional compartment syndrome (CECS) is characterized by elevated pressures within a closed space of an extremity muscular compartment, causing pain and/or disability by impairing the neuromuscular function of the involved compartment. The diagnosis of CECS is primarily made on careful history and physical exam. The gold standard test to confirm the diagnosis of CECS is invasive intra-compartmental pressure measurements. Sensory nerve function is often diminished during symptomatic periods of CECS. Sensory nerve function can be documented with the use of non-painful, non-invasive neurosensory testing. Methods Non-painful neurosensory testing of the myelinated large sensory nerve fibers of the lower extremity were obtained with the Pressure Specified Sensory Device™ in a 25 year old male with history and invasive compartment pressures consistent with CECS both before and after running on a tread mill. After the patient's first operation to release the deep distal posterior compartment, the patient failed to improve. Repeat sensory testing revealed continued change in his function with exercise. He was returned to the operating room where a repeat procedure revealed that the deep posterior compartment was not completely released due to an unusual anatomic variant, and therefore complete release was accomplished. Results The patient's symptoms numbness in the plantar foot and pain in the distal calf improved after this procedure and his repeat sensory testing performed before and after running on the treadmill documented this improvement. Conclusion This case report illustrates the principal that non-invasive neurosensory testing can detect reversible changes in sensory nerve function after a provocative test and may be a helpful non-invasive technique to managing difficult cases of persistent lower extremity symptoms after failed decompressive fasciotomies for CECS. It can easily be performed before and after exercise and be repeated at multiple intervals without patient dissatisfaction. It is especially helpful when other traditional testing has failed. PMID:19445717

  6. How Is Sarcoidosis Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Sarcoidosis Diagnosed? Your doctor will diagnose sarcoidosis based on ... Content: NEXT >> Featured Video Living With and Managing Sarcoidosis 05/18/2011 This video—presented by the ...

  7. How Is Vasculitis Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Vasculitis Diagnosed? Your doctor will diagnose vasculitis based on your signs and symptoms, your medical ... results. Specialists Involved Depending on the type of vasculitis you have and the organs affected, your doctor ...

  8. Sensor Placement for Diagnosability

    Microsoft Academic Search

    Ethan Scarl

    1994-01-01

    The concept of diagnostic accuracy is examined and redefined to support specific criteria for sensor placement. If the correctness of diagnoser operation is assumed, then any failure to diagnose accurately must be attributable to an inadequacy of sensor data. Inaccuracy in diagnoses can be expressed solely in terms of additional candidates whose faults cannot be ruled out. With ambiguity as

  9. Symbolic Testing of Diagnosability

    Microsoft Academic Search

    Alban Grastien

    Diagnosability ensures that the occurrence of a failure on t he system can always be diagnosed by a diagnosis engine. In this paper, we explore symbolic techniques to test diagnosability of DES. We present several algorithms that can be implemented with symbolic tools, and show how to combine decentralised approach with symbolic approach. Finally, we discuss how to extract the

  10. Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS)

    MedlinePLUS

    ... However, if the individual is experiencing fever and fatigue and has a history of potential rural rodent exposure, together with shortness of breath, would be strongly suggestive of HPS. If the ...

  11. How Is Long QT Syndrome Diagnosed?

    MedlinePLUS

    ... you may be given medicine to increase your heart rate. Medical History and Physical Exam Your doctor will ask whether you've had any symptoms of an abnormal heart rhythm. Symptoms may include: Unexplained fainting A fluttering ...

  12. Another case of prenatally diagnosed 48,XYY,+21

    SciTech Connect

    Stevens, J. [Children`s Hospital of Buffalo, NY (United States)

    1995-02-13

    We report on a 20-month-old boy with 48,XYY,+21, the third prenatally diagnosed patient with this rare double aneuploidy syndrome. A review of 14 literature cases suggests that the Down syndrome phenotype appears unaltered by the extra Y chromosome. 24 refs., 1 fig., 1 tab.

  13. Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

    ERIC Educational Resources Information Center

    Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

    2012-01-01

    The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome;…

  14. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  15. Turner Syndrome 2008

    Microsoft Academic Search

    Carolyn A. Bondy

    2009-01-01

    Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with incidental diagnoses of mosaicism for 45,X associated with normal ultrasounds have a high survival rate and may have no or only mild features

  16. Diagnosability and sensor reduction

    Microsoft Academic Search

    E. Scarl

    1991-01-01

    Device-centered model-based reasoning (MBR) models are used to determine the diagnosability of individual components and of the system as a whole. Given a satisfactory device-centered model that can be used dependably for diagnosis, the author first considers the specification of diagnosability for individual components. This is expressed through uniqueness requirements for the isolation of faults in those components. The diagnosability

  17. Brugada syndrome in children.

    PubMed

    Crosson, Jane E; Nies, Melanie

    2015-02-01

    Brugada syndrome is an inherited arrhythmia associated with characteristic ST elevation in the right precordial leads and sudden cardiac death. The average age of sudden cardiac death is 40 years; reported pediatric cases remain rare. Genetic testing and increased disease awareness may result in many more children being diagnosed with Brugada syndrome. PMID:25583159

  18. Cauda equina syndrome

    Microsoft Academic Search

    Judita Orendá?ová; Dáša ???žková; Jozef Kafka; Nadežda Luká?ová; Martin Maršala; Igor Šulla; Jozef Maršala; Nobuo Katsube

    2001-01-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory

  19. Molecular diagnosis of Alpers syndrome

    Microsoft Academic Search

    Khue V. Nguyen; Farida S. Sharief; Sherine S. L. Chan; William C. Copeland; Robert K. Naviaux

    2006-01-01

    Background\\/Aims: Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder. Methods: The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG mutations found

  20. [Differential diagnoses of Raynaud's phenomenon].

    PubMed

    Ahrazoglu, M; Moinzadeh, P; Hunzelmann, N

    2014-05-01

    Raynaud's phenomenon (RP) is characterized by repeated vasospastic attacks of the distal extremities induced by cold, humidity, vibrations or emotional stress. It typically presents a triphasic colour change from white (palor; vasoconstriction) to blue (cyanosis) and red (reactive hyperaemia). The symptoms are based on a primary RP in 90?%. Secondary RP is a symptom of an underlying disease. RP has to be distinguished from other colour changes of the distal extremities like acrocyanosis, erythromelalgia, perniosis and Chilblain-Lupus. Patients history, clinical examination, ANA, ESR/CRP and nailfold capillaroscopy are essential for the early diagnosis of an underlying disease. The initiation of angiologic tests is important in patients with digital ulcers, necrosis or gangrene. Important differential diagnoses in secondary RP are autoimmune rheumatic diseases like systemic sclerosis and systemic lupus erythematodes as well as vascular diseases like arterial occlusions and compression syndromes or concomitant medication (i.?e. beta-blocker). PMID:24801303

  1. How Is Anemia Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Anemia Diagnosed? Your doctor will diagnose anemia based on your medical and family histories, a ... exam, and results from tests and procedures. Because anemia doesn't always cause symptoms, your doctor may ...

  2. How Is Hemophilia Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Hemophilia Diagnosed? If you or your child appears to ... have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. ...

  3. Diagnosing Abiotic Degradation

    EPA Science Inventory

    The abiotic degradation of chlorinated solvents in ground water can be difficult to diagnose. Under current practice, most of the ?evidence? is negative; specifically the apparent disappearance of chlorinated solvents with an accumulation of vinyl chloride, ethane, ethylene, or ...

  4. Diagnosing tandem cells

    SciTech Connect

    Hou, J.; Fonash, S.J. [Pennsylvania State Univ., University Park, PA (United States). Electronic Materials and Processing Research Laboratory; Ghosh, M.; Xi, J.; Liu, T.; Kampas, F. [Advanced Photovoltaic Systems Inc., San Bruno, CA (United States)

    1994-12-31

    In this paper the authors report three new diagnostic techniques for identifying problem areas in tandem cells. These techniques can be easily extended to diagnosing triple junction cells. They applied these techniques to diagnose an a-Si:H based tandem cell having an extraordinarily low Voc. As they demonstrated, the assessments of the problem in this cell produced by each of the diagnostic approaches agree well with each other.

  5. Diagnosing gestational diabetes

    Microsoft Academic Search

    E. A. Ryan

    2011-01-01

    The newly proposed criteria for diagnosing gestational diabetes will result in a gestational diabetes prevalence of 17.8%,\\u000a doubling the numbers of pregnant women currently diagnosed. These new diagnostic criteria are based primarily on the levels\\u000a of glucose associated with a 1.75-fold increased risk of giving birth to large-for-gestational age infants (LGA) in the Hyperglycemia\\u000a Adverse Pregnancy Outcome (HAPO) study; they

  6. How Is Pulmonary Embolism Diagnosed?

    MedlinePLUS

    ... Twitter. How Is Pulmonary Embolism Diagnosed? Pulmonary embolism (PE) is diagnosed based on your medical history, a ... emergency room often are the ones to diagnose PE with the help of a radiologist. A radiologist ...

  7. How Is Cardiogenic Shock Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Cardiogenic Shock Diagnosed? The first step in diagnosing cardiogenic shock ... is cardiogenic shock. Tests and Procedures To Diagnose Shock and Its Underlying Causes Blood Pressure Test Medical ...

  8. Sleep disordered breathing concomitant with fibromyalgia syndrome

    Microsoft Academic Search

    Dienaro Germanowicz; MAGALI SANTOS LUMERTZ; Denis Martinez; Ane F. Margarites

    2006-01-01

    Objective: To identify fibromyalgia syndrome in patients with sleep disordered breathing. Method: We studied 50 patients seeking treatment at a sleep disorder clinic for snoring, apnea and excessive daytime sleepiness. Sleep disordered breathing was diagnosed through the use of polysomnography. To diagnose fibromyalgia syndrome, patients were evaluated in accordance with the criteria established by the American College of Rheumatology. Results:

  9. Understanding Prostate Cancer: Newly Diagnosed

    MedlinePLUS

    ... My Bridge 4 Life Clinical Trials Guides Newsletters Nutrition & Wellness PCF Spotlight Glossary African American Men Understanding Prostate Cancer Newly Diagnosed Newly Diagnosed Staging the Disease Issues ...

  10. Genetics Home Reference: Gillespie syndrome

    MedlinePLUS

    ... Gillespie syndrome and may include treatment providers. Eunice Kennedy Shriver National Institute of Child Health and Human ... Care Providers Diagnose Intellectual and Developmental Disabilities? Eunice Kennedy Shriver National Institute of Child Health and Human ...

  11. Asperger's syndrome: a case report

    PubMed Central

    Goodman, Carol M.

    1987-01-01

    A case report is presented of an 11-year-old boy who has been diagnosed as having Asperger's syndrome. There follows a review of the clinical features, course, prognosis and management of this condition. PMID:2453672

  12. Williams Syndrome What causes Williams syndrome?

    E-print Network

    Palmeri, Thomas

    are missing a small piece of chromosome 7. This rare genetic disorder occurs spontaneously in 1 out of every 7 in 1961, Williams syndrome affects males and females at equal rates and has been diagnosed in all thinking--teach skills for reframing negative thoughts. · Alleviate anxieties--reassure and aid transition

  13. Diagnosing and Managing Violence

    PubMed Central

    2011-01-01

    Available categorization systems for violence encountered in medical practice do not constitute optimal tools to guide management. In this article, 4 common patterns of violence across psychiatric diagnoses are described (defensive, dominance-defining, impulsive, and calculated) and management implications are considered. The phenomenologic and neurobiological rationale for a clinical classification system of violence is also presented. PMID:22295257

  14. Diagnosing ADHD in Adolescence

    ERIC Educational Resources Information Center

    Sibley, Margaret H.; Pelham, William E., Jr.; Molina, Brooke S. G.; Gnagy, Elizabeth M.; Waschbusch, Daniel A.; Garefino, Allison C.; Kuriyan, Aparajita B.; Babinski, Dara E.; Karch, Kathryn M.

    2012-01-01

    Objective: This study examines adolescent-specific practical problems associated with current practice parameters for diagnosing attention-deficit/hyperactivity disorder (ADHD) to inform recommendations for the diagnosis of ADHD in adolescents. Specifically, issues surrounding the use of self- versus informant ratings, diagnostic threshold, and…

  15. Diagnosing gestational diabetes.

    PubMed

    Ryan, E A

    2011-03-01

    The newly proposed criteria for diagnosing gestational diabetes will result in a gestational diabetes prevalence of 17.8%, doubling the numbers of pregnant women currently diagnosed. These new diagnostic criteria are based primarily on the levels of glucose associated with a 1.75-fold increased risk of giving birth to large-for-gestational age infants (LGA) in the Hyperglycemia Adverse Pregnancy Outcome (HAPO) study; they use a single OGTT. Thus, of 23,316 pregnancies, gestational diabetes would be diagnosed in 4,150 women rather than in 2,448 women if a twofold increased risk of LGA were used. It should be recognised that the majority of women with LGA have normal glucose levels during pregnancy by these proposed criteria and that maternal obesity is a stronger predictor of LGA. The expected benefit of a diagnosis of gestational diabetes in these 1,702 additional women would be the prevention of 140 cases of LGA, 21 cases of shoulder dystocia and 16 cases of birth injury. The reproducibility of an OGTT for diagnosing mild hyperglycaemia is poor. Given that (1) glucose is a weak predictor of LGA, (2) treating these extra numbers has a modest outcome benefit and (3) the diagnosis may be based on a single raised OGTT value, further debate should occur before resources are allocated to implementing this change. PMID:21203743

  16. Diagnosable discrete event systems design

    Microsoft Academic Search

    Yuanlin Wen; Pei-shu Fan; Muder Jeng

    2007-01-01

    This paper presents an approach using Petri nets for designing diagnosable discrete event systems such as complex semiconductor manufacturing machines. The concept is based on diagnosability analysis and enhancement. In this paper, we interpret and formulate the diagnosability problem as a binary integer linear programming problem that may have a feasible solution. If the system is predicted to be non-diagnosable,

  17. Bannayan Ruvalcaba Riley Syndrome

    PubMed Central

    Sagi, Sashidhar V.; Ballard, Darren D.; Marks, Rebecca A.; Dunn, Katie R.

    2014-01-01

    A 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this and suggestive clinical findings, he was diagnosed with Bannayan Ruvalcaba Riley syndrome.

  18. Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

    PubMed

    Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

    2015-07-01

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes to neural patterning, in the proper development of neural and cranial structures. Our study of a T18 specimen emphasizes the intricate interplay between bone and brain development in midline craniofacial abnormalities in general. PMID:26018729

  19. Trends in Autism Spectrum Disorder Diagnoses: 1994-2007

    ERIC Educational Resources Information Center

    Rosenberg, Rebecca E.; Daniels, Amy M.; Law, J. Kiely; Law, Paul A.; Kaufmann, Walter E.

    2009-01-01

    We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not otherwise specified [PDD-NOS], pervasive developmental disorder ["PDD"] and autism spectrum disorder ["ASD"], and Asperger syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007.…

  20. How Is Cystic Fibrosis Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Cystic Fibrosis Diagnosed? Doctors diagnose cystic fibrosis (CF) based on ... to see whether the baby has CF. Cystic Fibrosis Carrier Testing People who have one normal CFTR ...

  1. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning. PMID:18417316

  2. Metabolic Syndrome

    MedlinePLUS

    ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ... 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is a collection of problems that ...

  3. Beals Syndrome

    MedlinePLUS

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  4. Newly Diagnosed Acute Promyelocytic Leukemia

    PubMed Central

    Avvisati, Giuseppe

    2011-01-01

    Acute promyelocytic leukemia (APL) represents a medical emergency with a high rate of early mortality. As a consequence, as soon as the diagnosis is suspected based upon cytologic criteria, it is necessary to start all- trans retinoic acid (ATRA) treatment without delay. For patients with newly diagnosed APL, induction therapy with ATRA plus anthracycline based chemotherapy is recommended. At present the combination of arsenic trioxide plus ATRA should be considered for patients who are not candidates for anthracycline-based therapy. For pediatric and adult patients with APL aged < 60 years who achieve a CR with induction, I recommend 3 intensive courses of consolidation chemotherapy associated to ATRA, targeted on the basis of the risk group at diagnosis. In patients treated with a very intensive consolidation chemotherapy maintenance treatment can be omitted. However If a maintenance treatment has to be adopted I suggest the use of intermittent ATRA for 15 days every 3 months for a period of 2 years, rather than ATRA associated to chemotherapy. Moreover, taking into account the medical literature, a reduced dosage of ATRA ( 25 mg/m2) in pediatric patients and a consolidation chemotherapy of reduced intensity in elderly patients is recommended. Furthermore, in order to maximize survival, careful attention should be reserved to the coagulopathy and to the appearance of the differentiation syndrome. Finally, PCR for the PML/RARA fusion gene on a bone marrow specimen every three months for two years, and then every six months for additional three years are needed during the follow-up. PMID:22220261

  5. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  6. Sotos syndrome

    PubMed Central

    Baujat, Genevičve; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty. PMID:17825104

  7. Clinical characteristics of physician-diagnosed patients with multiple chemical sensitivity in Japan

    Microsoft Academic Search

    Sachiko Hojo; Satoshi Ishikawa; Hiroaki Kumano; Mikio Miyata; Kou Sakabe

    2008-01-01

    Multiple chemical sensitivity (MCS), a syndrome in which multiple symptoms occur with low-level chemical exposure, has not been clarified in detail. The aim of our study was to clarify the clinical characteristics of physician-diagnosed MCS patients in Japan. We analyzed patient characteristics based on the medical records of 106 patients diagnosed with MCS according to the 1999 Consensus and the

  8. Diagnosable structured logic array

    NASA Technical Reports Server (NTRS)

    Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)

    2009-01-01

    A diagnosable structured logic array and associated process is provided. A base cell structure is provided comprising a logic unit comprising a plurality of input nodes, a plurality of selection nodes, and an output node, a plurality of switches coupled to the selection nodes, where the switches comprises a plurality of input lines, a selection line and an output line, a memory cell coupled to the output node, and a test address bus and a program control bus coupled to the plurality of input lines and the selection line of the plurality of switches. A state on each of the plurality of input nodes is verifiably loaded and read from the memory cell. A trusted memory block is provided. The associated process is provided for testing and verifying a plurality of truth table inputs of the logic unit.

  9. Sjögren syndrome

    MedlinePLUS

    Xerostomia-Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... in children. Primary Sjögren syndrome is defined as dry eyes and dry mouth without another autoimmune disorder. Secondary ...

  10. A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1.

    PubMed

    Abrahamsen, Bjřrg J; Kulseth, Mari Ann; Paus, Benedicte

    2015-05-01

    A 19-year-old sportsman experienced a right-sided pneumothorax and hemoptysis after having had an intermittent cough and blood-tinged sputum for 2 months. A chest CT scan revealed small cavitary lesions in both lungs. The relapsing pneumothorax was treated with a chest tube twice, as well as surgically after the second relapse. Two months after surgery, the patient developed a cough, fever, and high C-reactive protein levels. At that time, large consolidations had developed in the right lung, while the left lung subsequently collapsed due to pneumothorax. The patient's physical appearance and anamnestic information led us to suspect a genetic connective tissue disease. A sequencing analysis of the COL3A1 gene identified a novel, de novo missense mutation that confirmed the diagnosis of vascular Ehlers-Danlos syndrome (EDS). This atypical presentation of vascular EDS with intrathoracic complications shows that enhanced awareness is required and demonstrates the usefulness of the genetic analyses that are clinically available for several hereditary connective tissue disorders. PMID:25940258

  11. [Description of patients diagnosed with "alcohol dependence syndrome" and "alcohol abuse" according to the C.I.E.-9a criteria of the W.H.O. at a psychiatric hospitalization service].

    PubMed

    Conde López, V; Pacheco Yáńez, L; Pérez Puente, C

    1990-01-01

    The authors make an introduction where they describe several problems found in the alcoholic diseases researches. The most important of them are related to the "alcoholic case" concept. After this the authors report several epidemiological facts about the alcoholic diseases and disorders in Castilla-León and Madrid. Then a retrospective analysis of inpatients psychiatric records from the Psychiatry Department of Valladolid's University Hospital between 1980 to 1984 (N = 1.259) is made. 252 (20.01%) of them suffered an alcoholic disorders, following the I.C.D.-9th criteria psychoses alcoholic were 102 (8.10%) and they were excluded. However "Alcohol dependence" with 128 cases (10.17%) and "Alcohol Abuse Syndromes" with 22 cases (1.75%) were studied deeply, being 150 cases--120 males (80%) and 30 females (20%)--evaluated. Every diagnostic group was analysed in a distinct way through 41 epidemiological, clinical, diagnostic and medical care variables. These two groups and their differences and similarities between them are reported. The main profile is a male patient, 43 years old, married, urban life, blue collar worker, unskilled work, primary studies, bad economic level, marriage and working maladapted, clinical admitted through the Emergency Service, with an alcoholism 24 years old and intake of 234 grs. alcohol/day, with former treatment of minor tranquilizers (B.D.Z.) and at last is readmitted by alcoholic disease of disorder or a different psychiatric disease or disorders (I.C.D.-9.a or D.S.M.-III) in a 37.5% and 16.41% respectively. PMID:2220440

  12. IBMFS - Other Bone Marrow Failure Syndromes

    Cancer.gov

    There are several other inherited bone marrow syndromes which are less common than the ones that are discussed individually on this Website. These diagnoses are usually made by experts in hematology or genetics.

  13. Genetics Home Reference: Beckwith-Wiedemann syndrome

    MedlinePLUS

    ... mild symptoms are never diagnosed. What are the genetic changes related to Beckwith-Wiedemann syndrome? The genetic ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

  14. Neuroblastoma in Children: Just Diagnosed Information

    MedlinePLUS

    ... Meet the Supporters Blog Donate Now Select Page Neuroblastoma in Children – Just Diagnosed Home > Understanding Children’s Cancer > ... Diagnosed Just Diagnosed In Treatment After Treatment Diagnosing Neuroblastoma Depending on the location of the tumor and ...

  15. Symbolic Testing of Diagnosability Alban Grastien ,

    E-print Network

    Grastien, Alban

    the minimal set of sensors that ensures diagnosability. Keywords: Discrete-Event Systems, DiagnosabilitySymbolic Testing of Diagnosability Alban Grastien , NICTA, Canberra Research Lab, Canberra University, Canberra, Australia Abstract: Diagnosability ensures that the occurrence of a failure

  16. Recurrent Rapunzel syndrome.

    PubMed

    Tiwary, S K; Kumar, S; Khanna, R; Khanna, A K

    2011-06-01

    Rapunzel syndrome is a rare condition that occurs when gastric trichobezoar extends beyond the pylorus and into the bowel. Recurrent Rapunzel syndrome is an extremely rare entity, with only two cases reported in the literature so far. Here, we present a case of recurrent Rapunzel syndrome in a 15-year-old girl. She underwent laparotomy twice in five years to extract trichobezoars measuring 58 cm and 62 cm. In both stances when Rapunzel syndrome was diagnosed, a tuft of hair extending from the stomach toward the jejunum was observed. The patient underwent psychiatric consultation and supervision after the first laparotomy; however, a lack of follow-up resulted in recurrence. We conclude that complete removal of trichobezoar and psychiatric consultation, coupled with long-term follow-up, are essential to prevent recurrence. PMID:21731983

  17. Tourette Syndrome

    MedlinePLUS

    What Is Tourette Syndrome? Tourette syndrome is a condition that affects a person's central nervous system and causes tics. Tics are ... few months or a year. Continue Who Gets Tourette Syndrome? Tourette syndrome can affect people of all ...

  18. Tourette Syndrome

    MedlinePLUS

    NINDS Tourette Syndrome Information Page Condensed from Tourette Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ...

  19. Fanconi syndrome

    MedlinePLUS

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome ...

  20. How Is Aplastic Anemia Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Aplastic Anemia Diagnosed? Your doctor will diagnose aplastic anemia based on your medical and family histories, a ... your primary care doctor thinks you have aplastic anemia, he or she may refer you to a ...

  1. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    PubMed

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

  2. Validation of nursing management diagnoses.

    PubMed

    Morrison, R S

    1995-01-01

    Nursing management diagnosis based on nursing and management science, merges "nursing diagnosis" and "organizational diagnosis". Nursing management diagnosis is a judgment about nursing organizational problems. The diagnoses provide a basis for nurse manager interventions to achieve outcomes for which a nurse manager is accountable. A nursing organizational problem is a discrepancy between what should be happening and what is actually happening that prevents the goals of nursing from being accomplished. The purpose of this study was to validate 73 nursing management diagnoses identified previously in 1992: 71 of the 72 diagnoses were considered valid by at least 70% of 136 participants. Diagnoses considered to have high priority for future research and development were identified by summing the mean scores for perceived frequency of occurrence and level of disruption. Further development of nursing management diagnoses and testing of their effectiveness in enhancing decision making is recommended. PMID:8530113

  3. Results from a 1-year, open-label, single arm, multi-center trial evaluating the efficacy and safety of oral Deferasirox in patients diagnosed with low and int-1 risk myelodysplastic syndrome (MDS) and transfusion-dependent iron overload.

    PubMed

    Nolte, F; Höchsmann, B; Giagounidis, A; Lübbert, M; Platzbecker, U; Haase, D; Lück, A; Gattermann, N; Taupitz, M; Baier, M; Leismann, O; Junkes, A; Schumann, C; Hofmann, W K; Schrezenmeier, H

    2013-01-01

    The majority of patients with myelodysplastic syndrome (MDS) present with anemia and will become dependent on regular transfusions of packed red blood cells (PRBC) with the risk of iron overload (IOL). Liver iron content best reflects the total body iron content, and measurement of liver iron concentration (LIC) by MRI is a validated tool for detection, but data in MDS is rather limited. Here we present the results of a multi-center trial evaluating the efficacy and safety of deferasirox (DFX) in low and intermediate-1 risk MDS patients with transfusion-dependent IOL. Three patients with transfusion frequency of >?4 units PRBC per month were initially treated with 30 mg/kg/day while in 46 patients with a lower transfusion burden deferasirox was initiated at 20 mg/kg/day, due to patient related reasons one patient received DFX in a dose of 6 mg/kg/day only. LIC was measured by MRI at baseline and end of study using the method by St. Pierre et al. The intention to treat population consisted of 50 MDS patients (28 male; 22 female) with a median age of 69 years who were treated with DFX for a median duration of 354 days. Mean daily dose of DFX was 19 mg/kg/day. Median serum ferritin level (SF) at baseline was 2,447 ng/mL and decreased to 1,685 ng/mL (reduction by 31 %) at end of study (p?=?0.01). In 7 (13 %) patients the initially chosen dose had to be increased due to unsatisfactory efficacy of chelation therapy. For 21 patients, LIC measurement by liver MRI was performed at baseline and for 19 of these patients at the end of study: mean LIC decreased significantly from 16,8 mg/g dry tissue weight (± 8.3 mg/g dry tissue weight) at study entry to 10,8 mg/g dry tissue weight (± 10.4 mg/g dry tissue weight) at end of study (p?=?0.01). Of all patients exposed to the study drug (n?=?54), 28 (52 %) did not complete the 12 month study period most commonly due to AEs in 28 % (n?=?15) and abnormal laboratory values in 7 % (n?=?4), respectively. The most common adverse events (??10 % of all patients) with suspected drug relationship were diarrhea (n?=?25, 46 %), nausea (n?=?13, 24 %), upper abdominal pain (n?=?8, 15 %), serum creatinine increase (n?=?16, 30 %) and rash (n?=?5, 9 %). Adverse events making dose adjustments or interruption of study drug necessary occurred in 33 patients (61 %). Hematologic improvement according to IWG criteria (2006) was observed in 6 patients (11 %). Initiation of treatment of IOL with DFX depending on the transfusion burden yields sufficient reduction of excess iron indicated by serum ferritin levels and most importantly by liver MRI. The safety profile of DFX was comparable to previous observations. PMID:23073603

  4. [Differential congenital myasthenia syndrome diagnosis].

    PubMed

    Spuler, S; Lehmann, T-N; Engel, A G

    2004-02-01

    Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (epsilon1276delG). PMID:14770284

  5. Pierre-Robin syndrome: a case report

    Microsoft Academic Search

    Andreea Chiriac; Anja Dawson; Martin Krapp; Roland Axt-Fliedner

    2008-01-01

    We report a case of a fetus diagnosed with micro-retrognathism at routine ultrasound examination in the 22nd week of gestation.\\u000a The diagnosis of Pierre-Robin syndrome was made postnatally. The possible differential diagnoses and the main complications\\u000a of retrognathism are reviewed.

  6. [Epidemiology, clinical spectrum of ALS and differential diagnoses].

    PubMed

    Couratier, Philippe; Marin, Benoît; Lautrette, Géraldine; Nicol, Marie; Preux, Pierre-Marie

    2014-05-01

    Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. Its incidence in France is estimated at 2.5 per 100,000 population and its prevalence between 5 and 8 per 100,000 inhabitants. Good prognostic factors are age of early onset, a longer time to diagnosis, initial damage to the spinal onset, early management of undernutrition and restrictive respiratory failure. The diagnosis of ALS is primarily clinical and is based on the evidence of involvement of the central motor neuron and peripheral neuron (NMP) in different territories or spinal or bulbar. The EMG confirms the achievement of NMP, shows the extension to clinically preserved areas and allows to exclude some differential diagnoses. The clinical spectrum of ALS is broad: conventional forms beginning brachial, lower limb or bulbar onsets, rarer forms to start breathing, pyramidal forms, forms with cognitive and behavioural impairment. In 5-10% of cases, ALS is familial. In 15% of cases, it is associated with frontotemporal degeneration rather than orbito-frontal type. The main differential diagnoses are guided by the clinic: combining pure motor neuropathy with or without conduction block, post-polio syndrome, cramp-fasciculation syndrome, myasthenia gravis, paraneoplastic syndromes, Sjögren syndrome, retroviral infections, some endocrine disorders, some metabolic diseases, genetic diseases (Kennedy and SMA) and inclusion body myositis. PMID:24703738

  7. Linguistic Resources of Individuals with Asperger Syndrome

    ERIC Educational Resources Information Center

    Bartlett, Sarah C.; Armstrong, Elizabeth; Roberts, Jacqueline

    2005-01-01

    In this paper the available literature on the communication skills of individuals with Asperger Syndrome (AS) is reviewed. Current issues regarding diagnosing and understanding disorders with a core social deficit are examined as well as the potential application of sociolinguistic analyses to the study of Asperger Syndrome, such as that provided…

  8. Autistic Disorder Symptoms in Rett Syndrome

    ERIC Educational Resources Information Center

    Wulffaert, Josette; Van Berckelaer-Onnes, Ina A.; Scholte, Evert M.

    2009-01-01

    According to the major classification systems it is not possible to diagnose a comorbid autistic disorder in persons with Rett syndrome. However, this is a controversial issue, and given the level of functioning of persons with Rett syndrome, the autistic disorder is expected to be present in a comparable proportion as in people with the same…

  9. Irritable bowel syndrome--a safe diagnosis?

    Microsoft Academic Search

    K M Holmes; R H Salter

    1982-01-01

    Seventy-seven of 84 surviving patients in whom the irritable bowel syndrome had been diagnosed at least six years previously were reviewed. A different diagnosis was made in only four cases. Forty-four patients remained symptomatic and 29 patients had no further bowel problems. The irritable bowel syndrome is often a chronic, relapsing disorder, and further investigations are not necessary unless symptoms

  10. Miliary tuberculosis and adult respiratory distress syndrome

    Microsoft Academic Search

    A. Roglan Piqueras; L. Marruecos; A. Artigas; C. Rodriguez

    1987-01-01

    Although, miliary tuberculosis is an unusual cause of severe acute respiratory failure, we describe nine patients with miliary tuberculosis who developed adult respiratory distress syndrome. This complication occurred in seven patients despite treatment with antituberculous drugs. In two patients who developed the syndrome, miliary tuberculosis was diagnosed only at postmortem. The presence of pulmonary hypertension in all cases and disseminated

  11. Nontraumatic fat embolism syndrome in sickle cell anemia

    Microsoft Academic Search

    Darlene P. Horton; Donna M. Ferriero; William C. Mentzer

    1995-01-01

    A 14-year-old girl with sickle cell disease and nephrotic syndrome developed bone pain, followed by pulmonary edema, seizures, coma, and bilateral flaccid paralysis. Fat embolism syndrome was diagnosed by cranial magnetic resonance imaging and an exchange transfusion was performed. Within 3 months, all symptoms had resolved. It is concluded that fat embolism syndrome must be considered as a possible cause

  12. Diagnoses of anxiety and depression in clinical-scenario patients

    PubMed Central

    Kosteniuk, Julie; Morgan, Debra; D’Arcy, Carl

    2012-01-01

    Abstract Objective To investigate family physicians’ differential diagnoses of clinical-scenario patients presenting with symptoms of either generalized anxiety disorder (GAD) or a major depressive episode (MDE). Design Cross-sectional survey. Setting Saskatchewan. Participants A total of 331 family physicians practising in Saskatchewan as of December 2007. Main outcome measures Type and number of physicians’ differential diagnoses for a GAD-scenario patient and an MDE-scenario patient. Results The survey response rate was 49.7% (331 of 666 surveys returned). Most physicians suggested a diagnosis of anxiety (82.5%) for the GAD-scenario patient and a diagnosis of depression (84.2%) for the MDE-scenario patient. In descending order, the 5 most frequent differential diagnoses for the GAD-scenario patient were anxiety, hyperthyroidism, depression, panic disorder or attack, and bipolar disorder. The 5 most frequent differential diagnoses for the MDE-scenario patient were depression, anxiety, hypothyroidism, irritable bowel syndrome, and anemia. Neither a diagnosis of anxiety nor a diagnosis of depression was associated with physicians’ personal attributes (sex, age, and years in practice) or organizational setting (number of total patient visits per week, private office or clinic, solo practice, Internet access, and rural practice setting). However, physicians in solo practice suggested fewer differential diagnoses for the GAD-scenario patient than those in group practice; physicians in practice 30 years or longer suggested fewer differential diagnoses for the MDE-scenario patient than those in practice fewer than 10 years. On average, physicians suggested 3 differential diagnoses for each of the scenarios. Conclusion Most family physicians recognize depression and anxiety in patients presenting with symptoms of these disorders and consider an average of 3 differential diagnoses in each of these cases. PMID:22423028

  13. Jacobsen syndrome

    PubMed Central

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-01-01

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933

  14. Neuroleptic malignant syndrome in the acquired immunodeficiency syndrome.

    PubMed Central

    Hernández, J. L.; Palacios-Araus, L.; Echevarría, S.; Herrán, A.; Campo, J. F.; Riancho, J. A.

    1997-01-01

    Patients infected by the human immunodeficiency virus are predisposed to many infectious and noninfectious complications and often receive a variety of drugs. Furthermore, they seem to have a particular susceptibility to idiosyncratic adverse drug reactions. It is therefore surprising that only a few cases of the neuroleptic malignant syndrome have been described in patients with the acquired immunodeficiency syndrome. A high index of suspicion is required to diagnose the neuroleptic malignant syndrome in these patients, as its usual manifestations, including fever and altered consciousness, are frequently attributed to an underlying infection. PMID:9497946

  15. Marfan syndrome: a diagnostic dilemma.

    PubMed

    Viljoen, D; Beighton, P

    1990-06-01

    During a 17-year period (1971-1988), the Marfan syndrome was diagnosed in 66 patients seen through the Department of Human Genetics, Medical School, University of Cape Town. Following reappraisal and application of the Pyeritz criteria, this diagnosis was confirmed in 33. Of the others, 17 with tall stature and a Marfanoid habitus had insufficient additional manifestations for firm diagnosis and were eliminated from the series. Sixteen had Marfanoid habitus, tall stature, arachnodactyly and other abnormalities which might have indicated the presence of a different syndrome. The difficulty in making a clinical diagnosis of the Marfan syndrome is stressed and emphasizes the need for a biomolecular marker. PMID:2383927

  16. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    Microsoft Academic Search

    Desmond J. Smith; Edward M. Rubin

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  17. Psoriasis and Metabolic Syndrome

    PubMed Central

    Malkic Salihbegovic, Eldina; Hadzigrahic, Nermina; Cickusic, Amra Jakubovic

    2015-01-01

    Introduction: Psoriasis is a chronic skin ailment which can be connected with an increased occurrence of other illnesses, including the metabolic syndrome. Examinees and methods: A prospective study has been conducted which included 70 patients affected by psoriasis, both genders, older than 18 years. Average age being 47,14 (SD=±15,41) years, from that there were 36 men or 51,43 and 34 women or 48,57%. The average duration of psoriasis was 15,52 (SD= ±12,54) years. For purposes of diagnosing the metabolic syndrome, the criteria of National Cholesterol Education Program Adult Treatment Panel III, (NCEP ATP III) were used. For purposes of detecting the severity and spread of psoriasis, Psoriasis Area and Severity Index (PASI) was used. Results: The incidence of metabolic syndrome in patients with psoriasis was 38,57%. Average values of PASI score were 16,65. The increase in values of PASI score and metabolic syndrome were statistically highly connected. (r=0,3, p=0,0001). Conclusion: Psoriasis is connected with metabolic syndrome, there is a positive correlation between the severity of psoriasis and frequency of metabolic syndrome. PMID:26005254

  18. Lemierre's syndrome (necrobacillosis)

    PubMed Central

    Golpe, R.; Marin, B.; Alonso, M.

    1999-01-01

    Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.???Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  19. Tourette Syndrome

    MedlinePLUS

    ... first described the condition in 1885. What Is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ... is still being studied. Back Continue Dealing With Tourette Syndrome Many people don't understand what TS ...

  20. Dravet Syndrome

    MedlinePLUS

    NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  1. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  2. Usher Syndrome

    MedlinePLUS

    ... for Usher syndrome. The best treatment involves early identification so that educational programs can begin as soon ... syndrome. Other areas of study include the early identification of children with Usher syndrome, treatment strategies such ...

  3. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  4. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

    PubMed Central

    Manjima, S.; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome. PMID:25821359

  5. Fault Diagnosability of Arrangement Graphs

    E-print Network

    Zhou, Shuming

    2012-01-01

    The growing size of the multiprocessor system increases its vulnerability to component failures. It is crucial to locate and to replace the faulty processors to maintain a system's high reliability. The fault diagnosis is the process of identifying faulty processors in a system through testing. This paper shows that the largest connected component of the survival graph contains almost all remaining vertices in the $(n,k)$-arrangement graph $A_{n,k}$ when the number of moved faulty vertices is up to twice or three times the traditional connectivity. Based on this fault resiliency, we establishes that the conditional diagnosability of $A_{n,k}$ under the comparison model. We prove that for $k\\geq 4$, $n\\geq k+2$, the conditional diagnosability of $A_{n,k}$ is $(3k-2)(n-k)-3$; the conditional diagnosability of $A_{n,n-1}$ is $3n-7$ for $n\\geq 5$.

  6. [Silver syndrome--case report].

    PubMed

    Kocha?ski, Andrzej; Dierick, Ines; Timmerman, Vincent; Hausmanowa-Petrusewicz, Irena

    2007-01-01

    Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinical findings. The coexistence of sensory fiber damage and motor deficit leads to the diagnosis of Charcot-Marie-Tooth disease in some patients, while others are diagnosed with spastic paresis due to predominant pyramidal symptoms. If the symptoms are limited to the motor deficit, hereditary motor neuropathy is diagnosed in some cases. In this report, we describe a case of the Silver syndrome in a Polish family that has been verified by genetic testing. Due to the lack of pyramidal symptoms and slightly expressed sensory fiber damage (in neurographic studies), motor neuropathy type of the Silver syndrome with minor sensory component was diagnosed. PMID:18224579

  7. Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.

    PubMed

    Poletto, Erica D; Trinh, Angela M; Levin, Terry L; Tsirilakis, Kalliope; Loizides, Anthony M

    2010-07-01

    Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or JPS is diagnosed, as early recognition of this syndrome overlap allows appropriate management of these patients. PMID:20012952

  8. [Autoimmune fatigue syndrome and fibromyalgia syndrome].

    PubMed

    Itoh, Y; Igarashi, T; Tatsuma, N; Imai, T; Yoshida, J; Tsuchiya, M; Murakami, M; Fukunaga, Y

    1999-08-01

    We have encounted two patients with fibromyalgia (FM) initially diagnosed as having autoimmune fatigue syndrome (AIFS). To investigate the relationship between AIFS and FM, the distribution of the tender points in patients with AIFS was assessed according to the ACR criteria for FM. It was revealed that AIFS patients had 5.6 tender points on averages. Patients with headaches, digestive problems, or difficulty going to school had more tender points than patients without. Patients with ANA titers < 1: 160 had more tender points than patients with ANA > or = 1: 160. Anti-Sa negative patients had more tender points than positive patients. These results suggest a relationship between AIFS and FM in terms of the pathophysiologic mechanisms of the numerous tender points. In other words, ANA-positive FM patients could be one form of AIFS, as well as ANA-positive chronic fatigue syndrome patients. Thus, autoimmunity could explain the controversial disease entities of FM and/or CFS. PMID:10466339

  9. Using Facial Images to Diagnose Fetal Alcohol Syndrome (FAS)

    Microsoft Academic Search

    Jeffrey Huang; Amit Jain; Shiaofen Fang; Edward P. Riley

    2005-01-01

    This paper proposes the methodology of classification architectures for FAS diagnosis tasks and shows their feasibility through experimental studies. We describe the automatic selection of features from an image training set using the theories of multidimensional discriminant analysis and the associated optimal linear projection. The method consists of two steps: projection of face image from the original vector space to

  10. Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome

    E-print Network

    Boyer, Edmond

    of Medicine, Cardiology, University Hospital Mannheim, Mannheim, Germany (C.V., M.B., C.W.); University Hospital of Muenster, Department of Cardiology and Angiology, Muenster, Germany (L.E., E.S.-B.); Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands (P.G.M.,

  11. Moyamoya Syndrome: A Window of Moyamoya Disease

    PubMed Central

    Phi, Ji Hoon; Wang, Kyu-Chang; Lee, Ji Yeoun

    2015-01-01

    Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment considerations. The study of moyamoya syndrome can provide clinicians and researchers with valuable knowledge and insight. Although it is infrequently encountered in clinical practice, moyamoya-like vasculopathy can severely complicate outcomes for patients with various underlying diseases when the clinician fails to expect or diagnose moyamoya syndrome development. Furthermore, moyamoya syndrome could be used as a doorway to more enigmatic moyamoya disease in research. More comprehensive survey and investigation are required to uncover the secrets of all the moyamoya-like phenomena. PMID:26180607

  12. Schimmelpenning syndrome.

    PubMed

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Ventura, Filipa; Brito, Celeste

    2013-10-01

    Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions. PMID:24139367

  13. Morgagni hernia diagnosed by MRI

    Microsoft Academic Search

    Noriki Kamiya; Kohei Yokoi; Naoto Miyazawa; Shoichi Hishinuma; Yoshiro Ogata; Nobuhito Katayama

    1996-01-01

    We herein present a patient with Morgagni hernia which was diagnosed by magnetic resonance imaging (MRI). The patient had a progressively enlarging mass in the right cardiophrenic angle on chest roentgenogram. On computed tomography (CT) scans, the mass was revealed to have fat density and therefore was suspected to be either a lipoma or liposarcoma. MRI clearly demonstrated that the

  14. How Is Vaginal Cancer Diagnosed?

    MedlinePLUS

    ... present and, if so, what type it is. Imaging tests Chest x-ray If vaginal cancer is diagnosed, a plain x- ... possible metastases. Magnetic resonance imaging (MRI) Magnetic resonance imaging (MRI) scans use radio waves and strong magnets instead of x-rays to make images of the body. The energy ...

  15. Diagnoses and interventions in podiatry.

    PubMed

    Zuijderduin, W M; Dekker, J

    1996-01-01

    In the present study a quantitative description is given of diagnoses and interventions in podiatry. Data are used from a survey on podiatry practice in The Netherlands. Data have been recorded by 36 podiatrists on 897 patients. Information was gathered on patient characteristics, the medical diagnoses, the podiatry diagnoses (impairments and disabilities), treatment goals derived from these diagnoses, and interventions. Impairments were recorded in nearly all patients. The interrelationship among impairments was analysed. Four dimensions of highly interrelated impairments were found. Disabilities were recorded in about one-third of the patients. Only one dimension of interrelated disabilities was identified. Podiatric soles were applied in the treatment of two-thirds of the patients, silicone devices in one-fifth of the patients and nail braces in only a few patients. Advice, instruction and exercise was given in one-third of the patients, while basic foot care was given in a quarter of the patients. Significant relationships between treatment goals and the application of interventions were found. The main conclusions from this study are: (1) the podiatry diagnosis is primarily at the level of impairments; (2) treatment goals derived from impairments determine which interventions are applied. The implications of these findings with regard to the further development of the podiatry diagnosis and the design of studies on the outcome of podiatric interventions are discussed. PMID:8932742

  16. How Is Fanconi Anemia Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Fanconi Anemia Diagnosed? People who have Fanconi anemia (FA) are born with the disorder. They may ... questions about: Any personal or family history of anemia Any surgeries you’ve had related to the ...

  17. Metabolic Syndrome

    MedlinePLUS

    ... you know? One in five Americans has the metabolic syndrome. WhO is At risk fOr the metAbOlic syndrOme? The syndrome runs in families and is more ... High blood pressure Most people who have the metabolic syndrome feel healthy and may not have any signs ...

  18. Stickler's syndrome associated with congenital glaucoma.

    PubMed

    Ziakas, N G; Ramsay, A S; Lynch, S A; Clarke, M P

    1998-03-01

    A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, and retinal detachment. Congenital glaucoma and Stickler's syndrome are two diagnoses frequently considered in high myopia in infancy. The case report described presents a case of Stickler's syndrome in association with congenital glaucoma. This association is unusual, but important to recognise in the neonatal period. The possibility of coexistence of these clinical entities, should be considered in the future. PMID:9587930

  19. Juvenile polyposis syndrome

    PubMed Central

    Brosens, Lodewijk AA; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called “landscaper mechanism” where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

  20. Juvenile polyposis syndrome.

    PubMed

    Brosens, Lodewijk Aa; Langeveld, Danielle; van Hattem, W Arnout; Giardiello, Francis M; Offerhaus, G Johan A

    2011-11-28

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome. PMID:22171123

  1. Cauda equina syndrome.

    PubMed

    Orendácová, J; Cízková, D; Kafka, J; Lukácová, N; Marsala, M; Sulla, I; Marsala, J; Katsube, N

    2001-08-01

    Single or double-level compression of the lumbosacral nerve roots located in the dural sac results in a polyradicular symptomatology clinically diagnosed as cauda equina syndrome. The cauda equina nerve roots provide the sensory and motor innervation of most of the lower extremities, the pelvic floor and the sphincters. Therefore, in a fully developed cauda equina syndrome, multiple signs of sensory disorders may appear. These disorders include low-back pain, saddle anesthesia, bilateral sciatica, then motor weakness of the lower extremities or chronic paraplegia and, bladder dysfunction. Multiple etiologies can cause the cauda equina syndrome. Among them, non-neoplastic compressive etiologies such as herniated lumbosacral discs and spinal stenosis and spinal neoplasms play a significant role in the development of the cauda equina syndrome. Non-compressive etiologies of the cauda equina syndrome include ischemic insults, inflammatory conditions, spinal arachnoiditis and other infectious etiologies. The use of canine, porcine and rat models mimicking the cauda equina syndrome enabled discovery of the effects of the compression on nerve root neural and vascular anatomy, the impairment of impulse propagation and the changes of the neurotransmitters in the spinal cord after compression of cauda equina. The involvement of intrinsic spinal cord neurons in the compression-induced cauda equina syndrome includes anterograde, retrograde and transneuronal degeneration in the lumbosacral segments. Prominent changes of NADPH diaphorase exhibiting, Fos-like immunoreactive and heat shock protein HSP72 were detected in the lumbosacral segments in a short-and long-lasting compression of the cauda equina in the dog. Developments in the diagnosis and treatment of patients with back pain, sciatica and with a herniated lumbar disc are mentioned, including many treatment options available. PMID:11311464

  2. Depressive behaviour in children diagnosed with a mitochondrial disorder.

    PubMed

    Morava, E; Gardeitchik, T; Kozicz, T; de Boer, L; Koene, S; de Vries, M C; McFarland, R; Roobol, T; Rodenburg, R J T; Verhaak, C M

    2010-08-01

    A higher incidence of depression has been described in adults with primary oxidative phosphorylation disease. We evaluated the psychological characteristics of eighteen non-retarded pediatric patients diagnosed with a disorder of the oxidative phosphorylation. We found significantly higher rate of withdrawn, depressive behaviour compared to population norm scores, to children with other types of inborn errors of metabolism and also in comparison to patients with Sotos syndrome. The occurrence of depressive behaviour showed no correlation with the degree of mitochondrial dysfunction. These findings support the hypothesis that mood disorders could be associated to abnormal cerebral energy metabolism. PMID:20573558

  3. Small Bowel Bacterial Overgrowth in Symptomatic Older People: Can It Be Diagnosed Earlier?

    Microsoft Academic Search

    D. A. Elphick; T. S. Chew; S. E. Higham; N. Bird; A. Ahmad; D. S. Sanders

    2005-01-01

    Background\\/Objectives: In older people, small bowel bacterial overgrowth syndrome may be a common, but under-diagnosed, cause of diarrhoea and nutrient malabsorption. We aim to determine which clinical features and baseline laboratory investigations indicate a high likelihood of small bowel bacterial overgrowth as defined by a positive glucose breath test. Methods: A retrospective analysis of records for all patients referred for

  4. Autism is uncommon in 22q: the how and why of wrong diagnoses

    E-print Network

    Nguyen, Danh

    Autism is uncommon in 22q: the how and why of wrong diagnoses Kathleen Angkustsiri, Khyati Disclosures · Co-investigator on clinical trials in autism and fragile X syndrome ­Novartis ­Roche ­Seaside Pharmaceuticals ­Forest Laboratories #12;22q and Autism Spectrum Disorders · Autism Spectrum Disorders

  5. Genetics Home Reference: Opitz G/BBB syndrome

    MedlinePLUS

    ... syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is ...

  6. New Genetic Susceptibility Factors for Sjögren's Syndrome Revealed

    MedlinePLUS

    ... is difficult to diagnose because its main characteristics—dry eyes and mouth—are features common to many other ... The most common symptoms of Sjögren’s syndrome are dry eyes and mouth, but the disease can affect other ...

  7. Severe hyponatremia and Schmidt's syndrome.

    PubMed

    Wehbe, Edgard; Grant, Michael E

    2008-06-01

    Severe hyponatremia, defined by a sodium concentration of below 115 meq/l, is rarely reported with Schmidt's syndrome. We report a 43-year-old woman diagnosed with Schmidt's syndrome during the workup for severe hyponatremia as well a review of all the reported cases. The Medline database from 1960 to 2007 and relevant references of selected articles were searched. Search terms included hyponatremia, hypothyroidism, autoimmune thyroid disease, adrenal insufficiency, adrenal failure, Schmidt's syndrome and autoimmune polyendocrine syndrome type 2. The search was restricted to the English language, human subjects, and patients with a serum sodium concentration of below 115 meq/l. Seven cases were reported including this report. Severe hyponatremia seems to be found more often in patients with severe hypothyroidism. To our knowledge this is the first case to describe the occurrence of severe hyponatremia with normal thyroid function test and normal baseline cortisol level. PMID:18283521

  8. Prescribing patterns in premenstrual syndrome

    PubMed Central

    Wyatt, Katrina M; Dimmock, Paul W; Frischer, Martin; Jones, Paul W; O'Brien, Shaugn PM

    2002-01-01

    Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS) have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998) within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy. PMID:12086594

  9. Apert syndrome with omphalocele: a case report.

    PubMed

    Ercoli, Gabriel; Bidondo, María Paz; Senra, Blanca Cristina; Groisman, Boris

    2014-09-01

    Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. PMID:25045033

  10. Learning about Down Syndrome

    MedlinePLUS

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  11. Floppy infant syndrome.

    PubMed

    Igarashi, Masanori

    2004-12-01

    Floppiness/hypotonia is a common neurologic symptom in infancy. A variety of neuromuscular disorders and central nervous system (CNS) disorders cause floppy infant syndrome (FIS). CNS disorders are the much more common causes of the syndrome than neuromuscular disorders. On long-term follow up, cerebral palsy and mental retardation turn out to be the 2 most common causes of FIS. This review focuses on neuromuscular causes of FIS. With the advent of molecular diagnosis, a few conditions can be diagnosed by DNA analysis of the peripheral lymphocytes (myotonic dystrophy, spinal muscular atrophy); however, for the most part, electrodiagnostic studies and muscle biopsy remain as essential diagnostic tools for FIS. Immunohistochemical study of the biopsied muscle also improves diagnostic capability. Management for most conditions remains supportive. PMID:19078754

  12. Premenstrual syndrome

    MedlinePLUS

    Brown I, O'Brien PMS, Marjoribanks I, Wyatt K. Selective serotonin reuptake inhibitors for premenstrual syndrome. Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and ...

  13. Tourette Syndrome

    MedlinePLUS

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

  14. Rett Syndrome

    MedlinePLUS

    ... is Rett Syndrome? Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child ... antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children ...

  15. Metabolic Syndrome

    MedlinePLUS

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  16. Klinefelter syndrome

    MedlinePLUS

    47 X-X-Y syndrome ... have two XX chromosomes. Boys normally have an X and a Y chromosome. Klinefelter syndrome is when ... boy is born with at least one extra X chromosome. Usually, this occurs due to one extra ...

  17. Asperger Syndrome

    MedlinePLUS

    ... have certain genetic or chromosomal conditions, such as fragile X syndrome  or tuberous sclerosis . 11-14 When taken ... and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard. 2008; 113(1): 44- ...

  18. Hunter syndrome

    MedlinePLUS

    ... Mild to no mental deficiency Both forms: Carpal tunnel syndrome Coarse features of the face Deafness (gets ... Airway obstruction Carpal tunnel syndrome Hearing loss that gets worse over time Loss of ability to complete daily living activities Joint stiffness that ...

  19. Goodpasture syndrome

    MedlinePLUS

    Goodpasture syndrome is a rare disease that can involve quickly worsening kidney failure and lung disease. Some ... Goodpasture syndrome is an autoimmune disorder . It occurs when the immune system mistakenly attacks and destroys healthy ...

  20. Joubert Syndrome

    MedlinePLUS

    ... sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. NIH Patient Recruitment for Joubert Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. ...

  1. [Greater trochanteric pain syndrome].

    PubMed

    Nissen, M J; Genevay, S

    2015-03-11

    Trochanteric bursitis, also known as "greater trochanter pain syndrome", is a frequent and often under-diagnosed cause of pain in the lateral hip region. The diagnosis is essentially based on the clinical examination; however various forms of imaging may be useful to confirm the diagnosis and particularly to ex- clude other aetiologies. The different therapeutic options include non-steroidal anti-inflammatories, physiotherapy, local injections of cortisone and local anaesthetic, and extra-corporeal shock wave therapy. Surgical intervention is only indicated in rare cases. PMID:25946869

  2. Imaging of corticobasal degeneration syndrome

    Microsoft Academic Search

    Masamichi Koyama; Akira Yagishita; Yasuhiro Nakata; Masaharu Hayashi; Mitsuaki Bandoh; Toshio Mizutani

    2007-01-01

    Introduction  Diagnosing corticobasal degeneration is often difficult on the basis of clinical symptoms and radiological images. We aimed\\u000a to clarify the imaging findings of corticobasal degeneration syndrome (CBDS).\\u000a \\u000a \\u000a \\u000a Methods  Included in the study were 16 patients (8 men, 8 women, 46–75 years old) with clinically diagnosed CBDS. We evaluated the\\u000a patients’ symptoms and signs, and MR and single-photon emission CT (SPECT) imaging findings.

  3. Tolosa-Hunt syndrome masquerading as Gradenigo syndrome in a teenager.

    PubMed

    Slattery, Eric; White, Andrew J; Gauthier, Megan; Linscott, Luke; Hirose, Keiko

    2013-07-01

    Tolosa-Hunt syndrome is an idiopathic chronic granulomatous inflammatory process commonly involving the cavernous sinus and the orbit. Symptoms include unilateral eye pain, ophthalmoplegia, headache, and facial pain in the distribution of the upper divisions of the trigeminal nerve and are highly responsive to steroid therapy. Gradenigo syndrome describes extension of a middle ear infection to the petrous apex, with trigeminal pain and ophthalmoplegia, typically responsive to antibiotics and often surgical drainage. We report a case of a 17 year-old girl with apparent Gradenigo syndrome, presenting with unilateral eye pain, abducens palsy, headache, hearing loss and serous otitis media, who was ultimately diagnosed with Tolosa-Hunt syndrome. PMID:23684166

  4. How Is Carotid Artery Disease Diagnosed?

    MedlinePLUS

    ... Living With Clinical Trials Links Related Topics Atherosclerosis Carotid Endarterectomy Carotid Ultrasound Stents Stroke Send a link to ... page from the NHLBI on Twitter. How Is Carotid Artery Disease Diagnosed? Your doctor will diagnose carotid artery disease ...

  5. How Is Alpha-1 Antitrypsin Deficiency Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Alpha-1 Antitrypsin Deficiency Diagnosed? Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you ... Rate This Content: NEXT >> October 11, 2011 Alpha-1 Antitrypsin Deficiency Clinical Trials Clinical trials are research ...

  6. How Do Health Care Providers Diagnose Vulvodynia?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose vulvodynia? Skip sharing on social media ... been ruled out. To diagnose vulvodynia, 1 a health care provider may recommend that a woman have blood ...

  7. How Are Obesity and Overweight Diagnosed?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How are obesity & overweight diagnosed? Skip sharing on social media links ... and Blood Institute. (2012). How are overweight and obesity diagnosed? Retrieved August 8, 2012, from http://www. ...

  8. Metabolic syndrome.

    PubMed

    Cho, L W

    2011-11-01

    Metabolic syndrome is a clustering of different risk factors that collectively increases the risk of developing cardiovascular disease and type 2 diabetes mellitus. The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive sleep apnoea, male hypogonadism and polycystic ovary syndrome. This review aims to discuss recent developments related to the syndrome, including the associated metabolic complications and goals for therapeutic strategies. PMID:22173246

  9. Delusional Misidentification Syndromes

    PubMed Central

    Forlenza, Nicholas; Gujski, Mariusz; Hashmi, Seema; Isaac, George

    2006-01-01

    During the past 80 years, delusional misidentification syndromes (DMS), especially the Fregoli and Capgras syndromes, have posed challenges to mental health professionals due to a lack of comprehensive understanding of the syndromes and a lack of effective treatment. An issue that remains to be unresolved is whether DMS (either in its pure form or as embedded symptoms of other diagnoses) can be accommodated in the present Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). During the past two decades, neurophysiological and neuroimaging studies have pointed to the presence of identifiable brain lesions, especially in the right frontoparietal and adjacent regions, in a considerable proportion of patients with DMS. Prior to the advent of such studies, DMS phenomena were explained predominantly from the psychodynamic point of view. Deficits in working memory due to abnormal brain function, are considered to play causative roles in DMS. In this article, we present two cases of Fregoli and Capgras syndromes and discuss the relevant theoretical and practical issues. PMID:20975828

  10. Cyclic vomiting syndrome in adults.

    PubMed

    Abell, T L; Adams, K A; Boles, R G; Bousvaros, A; Chong, S K F; Fleisher, D R; Hasler, W L; Hyman, P E; Issenman, R M; Li, B U K; Linder, S L; Mayer, E A; McCallum, R W; Olden, K; Parkman, H P; Rudolph, C D; Taché, Y; Tarbell, S; Vakil, N

    2008-04-01

    Cyclic vomiting syndrome (CVS) was initially described in children but can occur in all age groups. Cyclic vomiting syndrome is increasingly recognized in adults. However, the lack of awareness of CVS in adults has led to small numbers of diagnosed patients and a paucity of published data on the causes, diagnosis and management of CVS in adults. This article is a state-of-knowledge overview on CVS in adults and is intended to provide a framework for management and further investigations into CVS in adults. PMID:18371009

  11. Imaging characteristics of androgen insensitivity syndrome.

    PubMed

    Tank, Jay; Knoll, Abraham; Gilet, Anthony; Kim, Susanne

    2015-01-01

    Androgen insensitivity syndrome (AIS), also known as testicular feminization, is a genetic disorder which leads to lack of response to androgens caused by a defect in the androgen receptor. It is relatively uncommon and is usually diagnosed through clinical symptoms, laboratory findings, physical exam, radiological imaging, and genetic analysis. Our case is a middle-aged woman with complete AIS and demonstrates the importance of the various imaging modalities that are implemented in initially diagnosing and assisting in surgical management. PMID:25721709

  12. Malouf Syndrome with Hypergonadotropic Hypogonadism and Cardiomyopathy: Two-Case Report and Literature Review

    PubMed Central

    ?ilfeler, Dilek Benk; Karateke, Atilla; Keskin Kurt, Raziye; Aldemir, Özgür; Bu?ra Nacar, Alper; Balo?lu, Ali

    2014-01-01

    Malouf syndrome is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. Later on, Narahara diagnosed another sporadic case with the same findings. A survey of relevant literature leads us to three women cases in total. Here we present two cases of Malouf syndrome and literature review. PMID:25544917

  13. Sotos syndrome.

    PubMed

    Juneja, A; Sultan, A

    2011-12-01

    Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5˝-year-old child. PMID:22169837

  14. Aase syndrome

    MedlinePLUS

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

  15. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  16. Down syndrome

    MedlinePLUS

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

  17. Diagnosability Enhancement of Discrete Event Systems

    Microsoft Academic Search

    YuanLin Wen; ChunHsi Li; MuDer Jeng

    2006-01-01

    This paper presents an iterative systematic methodology for enhancing diagnosability of discrete event systems by adding sensors. The methodology consists of the following steps. First, Petri nets are used to model the target system. Then, an algorithm of polynomial complexity is adopted to analyze a sufficient condition of diagnosability of the modeled system. Here, diagnosability is defined in the context

  18. Prenatally diagnosed cystic lymphangioma in infants

    Microsoft Academic Search

    Norio Suzuki; Yoshiaki Tsuchida; Atsushi Takahashi; Minoru Kuroiwa; Hitoshi Ikeda; Jun Mohara; Shinitsu Hatakeyama; Takenobu Koizumi

    1998-01-01

    Background\\/Purpose: Prenatally diagnosed cystic lymphangioma (CL) is often associated with chromosomal anomalies, hydrops fetalis, and, in the case of cervical CL, occasionally respiratory distress just after birth. Often it is difficult to treat prenatally diagnosed CL because of the large size and associated symptoms.Methods: Between 1988 and 1997, 11 cases of prenatally diagnosed CL were treated. Five pregnancies were terminated

  19. Eight patients with Williams syndrome and craniosynostosis.

    PubMed

    Ueda, Kimiko; Yamada, Junji; Takemoto, Osamu; Okamoto, Nobuhiko

    2015-01-01

    Williams syndrome (WS) is a well-known genetic syndrome caused by a microdeletion on chromosome 7q11.23 encompassing the elastin gene. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual disabilities, and various other manifestations. Some patients were reported with craniosynostosis. Here, we report 8 WS cases diagnosed with craniosynostosis using three-dimensional cranial computed tomography. These findings suggest that craniosynostosis may occur more frequently in WS patients than expected. PMID:26002408

  20. Sturge Weber Syndrome--unusual presentation. .

    PubMed

    Neki, N S

    2014-01-01

    Sturge Weber Syndrome or encephalo-trigeminal angiomatosis is non-hereditary, congenital and rare disorder of unknown aetiology. It is characterised by vascular malformation with capillary venous angiomas involving face, eye and leptomeninges resulting in neurological and orbital manifestations. A case of 23 years old female presented with history of tonic-clonic convulsions, evidence of Port wine stain on face since birth, characteristic CT findings diagnosed as a case of Sturge Weber Syndrome is reported here for its rarity. PMID:25358234

  1. Velocardiofacial Syndrome and Early Intervention Providers: Recommendations for Intervention

    ERIC Educational Resources Information Center

    Boyer, Valerie E.; Fullman, Leah I.; Bruns, Deborah A.

    2012-01-01

    Velocardiofacial syndrome (VCFS), the most common microdeletion syndrome, is increasingly diagnosed in young children because of advances in diagnostic testing. The result is an increase in the number of young children with VCFS referred for early intervention (EI) services. We describe early development of children with VCFS and strategies to…

  2. Nine Years with Munchausen Syndrome: A Case of Psychogenic Dystonia

    PubMed Central

    Cakmak, Mirac A.; Sahin, Sevki; Cinar, Nilgun; Tiyekli, Utkan; Karsidag, Sibel

    2015-01-01

    Background Munchausen syndrome presenting with psychogenic dystonia is a rare condition. Phenomenology Shown A psychogenic dystonia case presenting with an acute onset of retrocollis, lower limb dystonia and bizarre gait was diagnosed as Munchausen syndrome. Educational Value Recognizing psychogenic dystonia avoids unnecessary investigations and provides successful treatment.

  3. Fragile X syndrome is less common than previously estimated

    Microsoft Academic Search

    J E Morton; S Bundey; T P Webb; F MacDonald; P M Rindl; S Bullock

    1997-01-01

    In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1\\/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children have been found not to have the expansion

  4. Theory of Mind, Causal Attribution and Paranoia in Asperger Syndrome

    Microsoft Academic Search

    Alison J. Blackshaw; Peter Kinderman; Dougal J. Hare; Chris Hatton

    2001-01-01

    Theory of mind (ToM) deficits are central to autistic spectrum disorders, including Asperger syndrome. Research in psychotic disorders has developed a cognitive model of paranoid delusions involving abnormal causal attributions for negative events. Possible aetiologies of these include deficits in social reasoning, specifically ToM. The present study investigated this attributional model of paranoia in Asperger syndrome. Participants diagnosed with Asperger

  5. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

    Microsoft Academic Search

    Melanie Ehrlich; Kelly Jackson; Corry Weemaes

    2006-01-01

    The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of this probably under-diagnosed syndrome include

  6. Asperger Syndrome: An Educational Case-Study of a Preschool Boy.

    ERIC Educational Resources Information Center

    Carruthers, Anne; Foreman, Philip J.

    1989-01-01

    This case study describes a boy diagnosed at age three as having Asperger syndrome. The study focuses on behavioral and developmental problems associated with the syndrome and discusses how these were managed to help the child function in normal educational settings. The distinction between Asperger syndrome and high-functioning autism is also…

  7. An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

    PubMed

    Ellard, Sian; Kivuva, Emma; Turnpenny, Peter; Stals, Karen; Johnson, Matthew; Xie, Weijia; Caswell, Richard; Lango Allen, Hana

    2015-03-01

    Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There is often limited fetal DNA available for investigation. We investigated a strategy for diagnosing autosomal recessive lethal disorders in non-consanguineous pedigrees with multiple affected fetuses. Exome sequencing was performed to identify genes where each parent is heterozygous for a rare non-synonymous-coding or splicing variant. Putative pathogenic variants were tested for cosegregation in affected fetuses and unaffected siblings. In eight couples of European ancestry, we found on average 1.75 genes (range 0-4) where both parents were heterozygous for rare potentially deleterious variants. A proof-of-principle study detected heterozygous DYNC2H1 variants in a couple whose five fetuses had short-rib polydactyly. Prospective analysis of two couples with multiple pregnancy terminations for fetal akinesia syndrome was performed and a diagnosis was obtained in both the families. The first couple were each heterozygous for a previously reported GLE1 variant, p.Arg569His or p.Val617Met; both were inherited by their two affected fetuses. The second couple were each heterozygous for a novel RYR1 variant, c.14130-2A>G or p.Ser3074Phe; both were inherited by their three affected fetuses but not by their unaffected child. Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akinesia syndrome. We conclude that exome sequencing of parental samples can be an effective tool for diagnosing lethal recessive disorders in outbred couples. This permits early prenatal diagnosis in future pregnancies. PMID:24961629

  8. [Malignant atrophic papulosis (Degos' syndrome)].

    PubMed

    Stejskalová, A; Stanová, M; Vosmík, F

    1990-01-01

    In a 49-year-old female patient with an eruption of lentil-shaped papules on the trunk and extremities, persisting for six years, originally in another department scleroderma guttata was diagnosed. For one year the patient suffered also from dyspeptic complaints, loss of weight and relapsing polyserositis. The complaints receded temporarily after immunosuppressive therapy. On surgical revision of the abdominal cavity on account of serous peritonitis during the last three months eruption of whitish foci on the intestinal serosa and omentum was found. Bioptic excision of the skin revealed an old bland infarct. From the clinical course and dermatological picture papulosis maligna atrophicans (Degos' syndrome) was diagnosed. Autoptic examination confirmed the clinical diagnosis of the syndrome by the finding of thromangiitis of Bürger's type with bland infarcts of the small intestine and perforation of the jejunum. PMID:2184516

  9. [Klinefelter syndrome in a boy with symptoms of precocious puberty].

    PubMed

    Bieniasz, Jolanta; Wikiera, Beata; G??b, Ewa; Noczy?ska, Anna

    2013-01-01

    Klinefelter syndrome is one of the most frequent sex chromosomal aberration. It is usually not recognized before puberty and many patients remain never diagnosed. Delayed puberty and hypergonadotropic hypogonadism are typical in this syndrome. Early diagnosis and therapy with androgens is important for patients. We present case of 8-year old boy with Klinefelter syndrome who was admitted to our department because of precocious puberty. PMID:25612816

  10. Cuboid Syndrome: a Review of the Literature

    PubMed Central

    Patterson, Stephen M.

    2006-01-01

    The purpose of this review was to inform all medical health care professionals about cuboid syndrome, which has been described as difficult to recognize and is commonly misdiagnosed, by explaining the etiology of this syndrome, its clinical diagnosis in relation to differential diagnoses, commonly administered treatment techniques, and patient outcomes. A comprehensive review of the relevant literature was conducted with MEDLINE, EBSCO, and PubMed (1960 - Present) using the key words cuboid, cuboid syndrome, foot anatomy, tarsal bones, manual therapy, and manipulation. Medical professionals must be aware that any lateral foot and ankle pain may be the result of cuboid syndrome. Once properly diagnosed, cuboid syndrome responds exceptionally well to conservative treatment involving specific cuboid manipulation techniques. Other methods of conservative treatment including therapeutic modalities, therapeutic exercises, padding, and low dye taping techniques are used as adjuncts in the treatment of this syndrome. Immediately after the manipulation is performed, the patient may note a decrease or a complete cessation of their symptoms. Occasionally, if the patient has had symptoms for a longer duration, several manipulations may be warranted throughout the course of time. Due to the fact radiographic imaging is of little value, the diagnosis is largely based on the patient’s history and a collection of signs and symptoms associated with the condition. Additionally, an understanding of the etiology behind this syndrome is essential, aiding the clinician in the diagnosis and treatment of this syndrome. After the correct diagnosis is made and a proper treatment regimen is utilized, the prognosis is excellent. Key Points Define the poorly understood condition of cuboid syndrome. Provide an understanding of the anatomical structures involved. Provide an explanation as to the cause of this syndrome. Demonstrate ways to evaluate by making a differential diagnosis. To inform health care professionals about management and treatment of cuboid syndrome. PMID:24357955

  11. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment

    PubMed Central

    2014-01-01

    Autoimmunity and immune dysregulation may lead to cytopenia and represent key features of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial symptom of a PID, the order and depth of diagnostic steps have to be performed in accordance with both an immunologic and a hematologic approach and will help exclude disorders such as systemic lupus erythematosus, common variable immunodeficiency, and autoimmune lymphoproliferative syndromes, hemophagocytic disorders, lymphoproliferative diseases, and novel differential diagnoses such as MonoMac syndrome (GATA2 deficiency), CD27 deficiency, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency, activated PI3KD syndrome (APDS), X-linked immunodeficiency with magnesium defect (MAGT1 deficiency), and others. Immunosuppressive treatment often needs to be initiated urgently, which impedes further relevant immunologic laboratory analyses aimed at defining the underlying PID. Awareness of potentially involved disease spectra ranging from hematologic to rheumatologic and immunologic disorders is crucial for identifying a certain proportion of PID phenotypes and genotypes among descriptive diagnoses such as autoimmune hemolytic anemia, chronic immune thrombocytopenia, Evans syndrome, severe aplastic anemia/refractory cytopenia, and others. A synopsis of pathomechanisms, novel differential diagnoses, and advances in treatment options for cytopenias in PID is provided to facilitate multidisciplinary management and to bridge different approaches. PMID:25163701

  12. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.

    PubMed

    Seidel, Markus G

    2014-10-01

    Autoimmunity and immune dysregulation may lead to cytopenia and represent key features of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial symptom of a PID, the order and depth of diagnostic steps have to be performed in accordance with both an immunologic and a hematologic approach and will help exclude disorders such as systemic lupus erythematosus, common variable immunodeficiency, and autoimmune lymphoproliferative syndromes, hemophagocytic disorders, lymphoproliferative diseases, and novel differential diagnoses such as MonoMac syndrome (GATA2 deficiency), CD27 deficiency, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency, activated PI3KD syndrome (APDS), X-linked immunodeficiency with magnesium defect (MAGT1 deficiency), and others. Immunosuppressive treatment often needs to be initiated urgently, which impedes further relevant immunologic laboratory analyses aimed at defining the underlying PID. Awareness of potentially involved disease spectra ranging from hematologic to rheumatologic and immunologic disorders is crucial for identifying a certain proportion of PID phenotypes and genotypes among descriptive diagnoses such as autoimmune hemolytic anemia, chronic immune thrombocytopenia, Evans syndrome, severe aplastic anemia/refractory cytopenia, and others. A synopsis of pathomechanisms, novel differential diagnoses, and advances in treatment options for cytopenias in PID is provided to facilitate multidisciplinary management and to bridge different approaches. PMID:25163701

  13. Apert's syndrome: Report of a rare case

    PubMed Central

    Bhatia, Parul V; Patel, Purv S; Jani, Yesha V; Soni, Naresh C

    2013-01-01

    Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS. PMID:24250097

  14. Hypoplastic left heart syndrome

    PubMed Central

    Connor, Jean Anne; Thiagarajan, Ravi

    2007-01-01

    Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited. PMID:17498282

  15. Robinow Syndrome: a case report.

    PubMed

    Gulcan, H; Akinci, A; Aktar, A

    2005-01-01

    We report a case with Robinow syndrome which has been rarely reported in the literature. A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome. Elevated levels of both basal and stimulated testosterone and dihydrotestosterone were found along with normal baseline levels of gonadotropins. These endocrinologic studies were suggestive for an androgen insensitivity. Mental and motor development of the infant were normal at 3 and 6 months of age. Because of the high level of consanguineous marriages in Turkey, we may expect a higher incidence of the autosomal recessive form of the syndrome. This gives a high recurrence risk and makes prenatal diagnosis an important option for future pregnancies in the families. PMID:16259327

  16. [Nicolau syndrome after intramuscular injection].

    PubMed

    Bellot, B; Bonnet, C; Retornaz, K; Panuel, M; Garnier, J-M; Dubus, J-C; Jurquet, A-L

    2014-04-01

    Nicolau syndrome is a rare, potentially severe complication that may occur after any drug injection, particularly after intramuscular injection. It is characterized by the acute onset of cutaneous and soft-tissue aseptic necrosis. Here, we report the case of a 14-year-old boy diagnosed with Nicolau syndrome on the right lower limb, after a benzathine-penicillin intramuscular injection for suspected rheumatic fever. The short-term progression was marked by uncomplicated rhabdomyolysis and the constitution of homolateral testicular torsion. The cutaneous-muscular disorders evolved favorably under symptomatic treatment. We discuss this insufficiently known complication of intramuscular injection, which may motivate reduced use of this route of drug administration in children and strict adherence to the procedure. Furthermore, it is important to note that Nicolau syndrome may evolve to homolateral testicular torsion, as, to the best of our knowledge, is reported for the first time in this case. PMID:24630542

  17. T-cell lymphoma with POEMS syndrome

    PubMed Central

    ZOU, FANGWEN; LI, ZHENHUA; MA, JIN-AN; QIU, ZHENHUA; TANG, YI-FANG; ZHENG, JIAO-YUN

    2015-01-01

    Angioimmunoblastic T-cell lymphoma (AITL) is a unique subtype of peripheral T-cell lymphoma. POEMS syndrome is a rare paraneoplastic syndrome caused by an underlying plasma cell disorder (PCD). The occurrence of AITL with POEMS syndrome has rarely been reported in the literature. The current study presents the case of a 53-year-old male who presented with a rapidly proliferative lymph node on the left neck, which was identified as an AITL on biopsy. The patient also exhibited the complications of polyneuropathy, M-proteinemia, hepatosplenomegaly, left ventricular hypertrophy, endocrinopathy and skin changes, and was therefore diagnosed with POEMS syndrome. To the best of our knowledge, the present study is the first to report a case of AITL with POEMS syndrome. The findings in this case suggest that the aberrant clones of B cells can also be caused by AITL. PMID:25663904

  18. Cerebriform fibrous proliferation vs. proteus syndrome.

    PubMed

    Yavuzer, R; Uluo?lu, O; Sari, A; Boyacio?lu, M; Sarigüney, Y; Latifo?lu, O; Celebi, M C

    2001-12-01

    Proteus syndrome is a rare, congenital hamartomatous syndrome that presents with a wide range of abnormalities. Regardless of different manifestations found in different patients, there exists three mandatory criteria for the diagnosis of this syndrome: a mosaic distribution of the lesions, a progressive course, and sporadic occurrence. When these criteria are met, the presence of additional connective tissue nevi, which are encountered mostly on the plantar surface of the feet, suffices for the diagnosis of Proteus syndrome. The authors present a 48-year-old woman who had been evaluated for a lesion on the plantar aspect of her left foot that was diagnosed as keloid and was treated unsuccessfully. In the light of the literature and with the help of histopathological reevaluation, the authors thought this unique lesion may be a localized form of Proteus syndrome. PMID:11756840

  19. Learning about Velocardiofacial Syndrome

    MedlinePLUS

    ... terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? What are the ... Syndrome Additional Resources for VCFS What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a genetic condition that ...

  20. Ochronosis diagnosed after knee arthroscopy

    PubMed Central

    Kara, Adnan; Celik, Haluk; Seker, Ali; Sezer, Hasan Basri; Kilinc, Eray; Uzun, Metin

    2014-01-01

    INTRODUCTION Ochronosis is a rare disorder which is defined as the deposition of metabolites of oxidation and polymerization of homogentisic acid, which have high affinity to collogen, in the connective tissues. It is a clinical condition characterized with ochronotic pigmentation of tissues, degenerative arthropathy of especially large joints and black discoloration of urine. In this paper we present a case of ochronosis diagnosed with biopsy and additional tests when a black discoloration of menisci and joint cartilage were detected during arthroscopic intervention for a degenerative meniscus tear. PRESENTATION OF CASE A forty two year-old male patient was operated for lateral meniscus tear of his right knee. The arthroscopic examination of right knee revealed black colored synovial hypertrophy and torn lateral meniscus. Partial meniscectomy was performed. The diagnosis of ochronosis was made after histopathologic examination. DISCUSSION Ochronotic pigment can accumulate in hyaline cartilage, tendon, skin, teeth, nail, sclera, tympanic membrane, heart valves, renal tubular cells, duramater, pancreas and walls of large arteries. In ochronosis the most frequently involved joints are knee and hip. In ochronotic arthropathy, articular cartilage become more sensitive to mechanical stresses. Our patient had meniscal tear, cartilage damage and black discoloration of synovial tissues and meniscus. CONCLUSION Arthroscopy may be helpful in diagnosis of ochronotic arthropathy. PMID:24993694

  1. [Capgras' syndrome].

    PubMed

    Ben-Zion, I Z; Levine, K; Shiber, A

    1997-09-01

    We present 3 cases of Capgras' syndrome-a delusional disorder in which the patient believes that 1 (or more) of his acquaintances has been replaced by an imposter who appears as a double. 2 were schizophrenics and 1 had depression with psychotic features. This syndrome is rare in our practice, but we do not know if this is due to lack of awareness of the condition, or to the possibility that it is a culture-related syndrome. We suggest that although the syndrome has lost some of it's significance, it is still worth making the diagnosis because of the medical and psychological implications this condition carries. PMID:9461686

  2. Review of the Asperger Syndrome Diagnostic Scale.

    ERIC Educational Resources Information Center

    Goldstein, Sam

    2002-01-01

    The reliability, validity, and clinical utility of the Asperger Syndrome Diagnostic Scale in the diagnosis of pervasive developmental disorders are reviewed. While the measure holds promise as a research tool, there appears little evidence that it can distinguish among the variety of types of pervasive developmental disorders, or diagnose Asperger…

  3. Language Skills of Adolescents with Tourette Syndrome

    ERIC Educational Resources Information Center

    Legg, Carol; Penn, Claire; Temlett, James; Sonnenberg, Beulah

    2005-01-01

    A multiple single-case study investigated language characteristics of adolescents with Tourette Syndrome (TS). Ten adolescent subjects with diagnosed TS were evaluated on a test battery sensitive to high level language and discourse impairment. Results were compared to established norms or, where no norms have been established, with results…

  4. Serotonin syndrome resulting from drug interactions.

    PubMed

    Chan, B S; Graudins, A; Whyte, I M; Dawson, A H; Braitberg, G; Duggin, G G

    1998-11-16

    We describe six patients diagnosed with serotonin syndrome after exposure to drugs with serotonergic activity. Drug interactions occurred as a result of a combination of tricyclic antidepressants, selective serotonin reuptake inhibitors, selective noradrenaline reuptake inhibitors or monoamine oxidase inhibitors. Management included supportive care and the use of non-specific serotonin antagonists (cyproheptadine, benzodiazepines and chlorpromazine). All patients made uneventful recoveries. PMID:9861909

  5. Aging in Rare Intellectual Disability Syndromes

    ERIC Educational Resources Information Center

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  6. Metastatic Angiosarcoma and Kasabach-Merritt Syndrome

    PubMed Central

    Massarweh, Suleiman; Munis, Aun; Karabakhtsian, Rouzan; Romond, Edward; Moss, Jessica

    2014-01-01

    Angiosarcomas are exceedingly rare tumors that are often difficult to diagnose. Exceptionally unusual is the presentation of these tumors with Kasabach-Merritt Syndrome, a curious form of intratumoral coagulation that can be impossible to distinguish from intravascular coagulation, which is more common. Instant recognition of this clinical association can help making a prompt diagnosis and timely initiation of therapy. PMID:25002952

  7. Early diagnosis of severe combined immunodeficiency syndrome

    Microsoft Academic Search

    R A Hague; S Rassam; G Morgan; A J Cant

    1994-01-01

    Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical and laboratory data on 45 patients with SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, and presenting symptoms were used as controls. Thirteen

  8. Parental migration and Asperger's syndrome.

    PubMed

    Lehti, Venla; Cheslack-Postava, Keely; Gissler, Mika; Hinkka-Yli-Salomäki, Susanna; Brown, Alan S; Sourander, Andre

    2014-11-01

    Parental immigration has been suggested as a possible risk factor for autism spectrum disorders (ASD), but findings have been inconsistent. Very few studies have focused specifically on Asperger's syndrome. The aim of this study was to examine the association between maternal and paternal immigration and the diagnosis of Asperger's syndrome in offspring. The study was a nested case-control study based on a national birth cohort in Finland. Children born in 1987-2005 and diagnosed with Asperger's syndrome by the year 2007 were identified from the Finnish Hospital Discharge Register (N = 1,783). Four matched controls for each case were selected from the Finnish Medical Birth Register (N = 7,106). Information on maternal and paternal country of birth and mother tongue was collected from the Finnish Central Population Register. The study showed that children whose parents are both immigrants have a significantly lower likelihood of being diagnosed with Asperger's syndrome than those with two Finnish parents [adjusted odds ratio (aOR) 0.2, 95 % confidence interval (CI) 0.1-0.4]. No significant associations were found between having only one immigrant parent and the diagnosis of Asperger's syndrome. A regional analysis showed a significantly decreased likelihood of the diagnosis of Asperger's syndrome in children whose mother (aOR 0.1, 95 % CI 0.01-0.5) or father (aOR 0.2, 95 % CI 0.05-0.5) was born in Sub-Saharan Africa. The findings may help in identifying risk factors for different ASD subtypes. On the other hand, they might reflect service use of immigrant families in Finland. PMID:25381114

  9. [Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation.

    PubMed

    Jelsig, Anne Marie; Třrring, Pernille Mathiesen; Wikman, Friedrik; Mortensen, Michael Bau; Qvist, Niels; Ousager, Lilian Bomme

    2014-10-27

    Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis. PMID:25354002

  10. Acute compartment syndrome

    PubMed Central

    Via, Alessio Giai; Oliva, Francesco; Spoliti, Marco; Maffulli, Nicola

    2015-01-01

    Summary Background: acute compartment syndrome (ACS) is one of the few true emergencies in orthopedics and traumatology. It is a painful condition caused by the increase interstitial pressure (intracompart-mental pressure – ICP) within a closed osteofascial compartment which impair local circulation. It occurs most often in the legs, but it can affects also the arms, hands, feet, and buttocks. It usually develops after a severe injury such as fractures or crush injury, but it can also occurs after a relatively minor injury and it may be iatrogenic. Uncommon causes of ACS have been also described, that suggest surgeons to pay great attention to this serious complication. Diagnosing ACS is difficult in clinical practice, even among expert surgeons. Currently, the diagnosis is made on the basis of physical examination and repeated ICP measures. ICP higher than 30 mmHg of diastolic blood pressure is significant of compartment syndrome. Once diagnosis is made, fasciotomy to release the affected compartment should be performed as early as possible because delayed decompression would lead to irreversible ischemic damage to muscles and peripheral nerves. Conclusion: acute compartment syndrome is a surgical emergency. There is still little consensus among authors about diagnosis and treatment of these serious condition, in particular about the ICP at which fasciotomy is absolutely indicated and the timing of wound closure. New investigations are needed in order to improve diagnosis and treatment of ACS. PMID:25878982

  11. Update on Kleefstra Syndrome

    PubMed Central

    Willemsen, M.H.; Vulto-van Silfhout, A.T.; Nillesen, W.M.; Wissink-Lindhout, W.M.; van Bokhoven, H.; Philip, N.; Berry-Kravis, E.M.; Kini, U.; van Ravenswaaij-Arts, C.M.A.; Delle Chiaie, B.; Innes, A.M.M.; Houge, G.; Kosonen, T.; Cremer, K.; Fannemel, M.; Stray-Pedersen, A.; Reardon, W.; Ignatius, J.; Lachlan, K.; Mircher, C.; Helderman van den Enden, P.T.J.M.; Mastebroek, M.; Cohn-Hokke, P.E.; Yntema, H.G.; Drunat, S.; Kleefstra, T.

    2012-01-01

    Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferase 1 (EHMT1) gene. Since the early 1990s, 85 patients have been described, of which the majority had a 9q34.3 microdeletion (>85%). So far, no clear genotype-phenotype correlation could be observed by studying the clinical and molecular features of both 9q34.3 microdeletion patients and patients with an intragenic EHMT1 mutation. Thus, to further expand the genotypic and phenotypic knowledge about the syndrome, we here report 29 newly diagnosed patients, including 16 patients with a 9q34.3 microdeletion and 13 patients with an EHMT1 mutation, and review previous literature. The present findings are comparable to previous reports. In addition to our former findings and recommendations, we suggest cardiac screening during follow-up, because of the possible occurrence of cardiac arrhythmias. In addition, clinicians and caretakers should be aware of the regressive behavioral phenotype that might develop at adolescent/adult age and seems to have no clear neurological substrate, but is rather a so far unexplained neuropsychiatric feature. PMID:22670141

  12. Down Syndrome What causes Down syndrome?

    E-print Network

    Palmeri, Thomas

    04/13 Down Syndrome What causes Down syndrome? Individuals with Down syndrome usually have an extra chromosome 21. Down syndrome occurs in about 1 in every 700 to 1,000 births. The chance of giving birth to a baby with Down syndrome increases if the mother is over 35 years old. Down syndrome affects both males

  13. A Case of Pulmonary Cryptococcosis in an Immunocompetent Male Patient Diagnosed by a Percutaneous Supraclavicular Lymph Node Biopsy

    PubMed Central

    Sung, Ji Hee; Oh, Mi-Jung; Lee, Kyoung Ju; Bae, Young A; Kwon, Kye Won; Lee, Seung Min; Kang, Ho Joon; Choi, Jinyoung

    2015-01-01

    Cryptococcal pneumonia usually occurs in immunocompromised patients with malignancy, acquired immune deficiency syndrome, organ transplantations, immunosuppressive chemotherapies, catheter insertion, or dialysis. It can be diagnosed by gaining tissues in lung parenchyma or detecting antigen in blood or bronchoalveolar lavage fluid. Here we report an immunocompetent 32-year-old male patient with diabetes mellitus diagnosed with cryptococcal pneumonia after a ultrasound-guided percutaneous supraclavicular lymph node core needle biopsy. We treated him with fluconazole at 400 mg/day for 9 months according to the guideline. This is the first case that cryptococcal pneumonia was diagnosed from a percutaneous lymph node biopsy in South Korea.

  14. Brown's syndrome: diagnosis and management.

    PubMed Central

    Wright, K W

    1999-01-01

    PURPOSE: To better understand the various etiologies of Brown's syndrome, define specific clinical characteristics of Brown's syndrome, describe the natural history of Brown's syndrome, and evaluate the longterm outcome of a novel surgical procedure: the silicone tendon expander. Also, to utilize a computer model to simulate the pattern of strabismus seen clinically with Brown's syndrome and manipulate the model to show potential surgical outcomes of the silicone tendon expander. METHODS: Charts were reviewed on patients with the diagnosis of Brown's syndrome seen at a children's hospital ophthalmology clinic from 1982 to 1997, or seen in the author's private practice. Objective fundus torsion was assessed in up gaze, down gaze, and primary position in 7 Brown's syndrome patients and in 4 patients with primary superior oblique overaction. A fax survey was taken of members of the American Association of Ophthalmology and Strabismus (AAPOS) listed in the 1997-1998 directory regarding their results using the silicone tendon expander procedure for the treatment of Brown's syndrome. A computer model of Brown's syndrome was created using the Orbit 1.8 program by simulating a shortened superior oblique tendon or by changing stretch sensitivity to create an inelastic muscle. RESULTS: A total of 96 patients were studied: 85 with Brown's syndrome (38 with congenital and 47 with acquired disease), 6 with masquerade syndromes, 1 with Brown's syndrome operated on elsewhere, and 4 with primary superior oblique overaction in the torsion study. Three original clinical observations were made: 1. Significant limitation of elevation in abduction occurs in 70% of Brown's syndrome cases surgically verified as caused by a tight superior oblique tendon. Contralateral pseudo-inferior oblique overaction is associated with limited elevation in abduction. 2. Traumatic Brown's syndrome cases have larger hypotropias than nontraumatic cases (P < .001). There was no significant hypotropia in primary position in 56 (76%) of 74 congenital and nontraumatic acquired cases despite severe limitation of elevation. 3. Of 7 patients with Brown's syndrome, 6 had no significant fundus torsion in primary position, but had significant (+2 to +3) intorsion in up gaze. Spontaneous resolution occurred in approximately 16% of acquired nontraumatic Brown's syndrome patients. The silicone tendon expander was used on 15 patients, 13 (87%) were corrected with 1 surgery and 14 (93%) with 2 surgeries. The only failure was a Brown's syndrome not caused by superior oblique pathology. Five of the silicone tendon expander patients had at least 5 years follow-up (range, 5 to 11 years). Four (80%) of the 5 patients had an excellent outcome with 1 surgery, final results graded between 9 and 10 (on a scale of 1-10, 10 is best). The fifth patient had a consecutive superior oblique paresis and a good outcome after a recession of the ipsilateral inferior oblique muscle. The AAPOS survey had a mean outcome score of 7.3, with 65% between 8 and 10. There were 9 (6%) complications reported: 4 related to scarring and 5 extrusions of the implant. Three of the 5 extrusions were reported from the same surgeon. The computer model of an inelastic superior oblique muscle-tendon complex best simulated the motility pattern of Brown's syndrome with severe limitation of elevation in adduction, mild limitation of elevation in abduction, minimal hypotropia in primary position, no superior oblique overaction, and intorsion in up gaze. CONCLUSIONS: The presence of mild to moderate limitation of elevation in abduction is common, and its presence does not eliminate the diagnosis of Brown's syndrome. The majority of Brown's syndrome patients have a pattern of strabismus consistent with an inelastic superior oblique muscle-tendon complex that does not extend, but can contract normally; not the presence of a short tendon. The presence of inelastic or tethered superior oblique muscle-tendon can be diagnosed without forced duction testing by observing the pattern of strabismus including torsion. Because of

  15. Klinefelter Syndrome

    MedlinePLUS

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic centers called ...

  16. HELLP Syndrome

    MedlinePLUS

    ... have your baby. HELLP stands for Hemolysis, Elevated Liver enzyme levels and a Low Platelet count. These are problems that can occur in women who have this syndrome. Women who have HELLP syndrome may have bleeding problems, liver problems and blood pressure problems that can hurt ...

  17. A Clinical and Epidemiological Study of Psoriasis and its Association with Various Biochemical Parameters in Newly Diagnosed Cases

    PubMed Central

    M.G., Gopal; Talwar, Ankur; Kumar B.C., Sharath; M., Ramesh; A.S., Nandini; H.B., Meena

    2013-01-01

    Background: There has been a lot of recent search on consideration of psoriasis as a systemic disease, with researchers being of the view that dermatological manifestations represent only a part of the spectrum. Although, there have been plenty of studies from the west reporting an association of psoriasis with the metabolic syndrome, there are no large-scale Indian studies evaluating Asian patients. The present study is an endeavour in this regard. Aim: To investigate the prevalence of metabolic syndrome in Indian patients with newly diagnosed psoriasis at the onset of the disease. Methods: The study is a prospective clinical case control study, with 100 patients of psoriasis and 100 age-matched healthy controls. 5ml plain venous blood after overnight fasting was obtained by venepuncture. Plasma glucose was tested by glucose oxidase method. Serum cholesterol and triglycerides was estimated by enzymatic method. Metabolic syndrome was diagnosed by the presence of three or more criterion of the National Cholestrol Education Programme’s Adult Panel (ATP). The statistical software SAS 9.2 and SPSS 15.0 was used for the analysis of the data. Results: Metabolic syndrome was diagnosed in 8 out of 100 cases and 9 out of 100 controls (p-value: 0.811). We did not find any association of psoriasis with metabolic syndrome in our study. The age of onset of the disease, the duration of the disease and the severity of the disease activity were also not found to be associated with the likelihood of developing metabolic syndrome. Conclusion: Our study refuted any association of psoriasis with metabolic syndrome at the onset of disease activity in Indian patients. The plenty of reports from west approving such an association can be explained by increased risk factors like smoking, alcohol consumption, obesity and stress levels. Further, most such studies have been conducted with patients on treatment, while ours is the first study on newly diagnosed patients prior to the initiation of any therapy. PMID:24551670

  18. Comparison of Lactulose and Glucose Breath Test for Diagnosis of Small Intestinal Bacterial Overgrowth in Patients with Irritable Bowel Syndrome

    Microsoft Academic Search

    S. V. Rana; S. Sharma; J. Kaur; S. K. Sinha; K. Singh

    2012-01-01

    Background and Aims: Validity of the lactulose breath test (LBT) to diagnose small intestinal bacterial overgrowth (SIBO) has been questioned. Therefore, a study was planned to compare LBT with glucose breath test (GBT) to diagnose SIBO in irritable bowel syndrome (IBS) patients and controls. Methods: 175 diarrhea-predominant IBS patients and 150 apparently healthy controls were enrolled. IBS was diagnosed according

  19. Diagnosing network-wide traffic anomalies

    Microsoft Academic Search

    Anukool Lakhina; Mark Crovella; Christophe Diot

    2004-01-01

    Anomalies are unusual and significant changes in a network's traffic levels, which can often span multiple links. Diagnosing anomalies is critical for both network operators and end users. It is a difficult problem because one must extract and interpret anomalous patterns from large amounts of high-dimensional, noisy data.In this paper we propose a general method to diagnose anomalies. This method

  20. Genetics Home Reference: Noonan syndrome

    MedlinePLUS

    ... use for Noonan syndrome? familial Turner syndrome Female Pseudo-Turner Syndrome Male Turner Syndrome Noonan-Ehmke syndrome pseudo-Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype, ...

  1. Moderating Effects of Challenging Behaviors and Communication Deficits on Social Skills in Children Diagnosed with an Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Hess, Julie A.; Mahan, Sara

    2013-01-01

    One-hundred nine children 3-16 years of age diagnosed with Autistic Disorder, Pervasive Developmental Disorder Not Otherwise Specified, or Asperger's Syndrome were studied. Children resided in six states in the United States. Using moderation analysis via multiple regression, verbal communication and challenging behaviors and how they interact…

  2. Essential Points of a Support Network Approach for School Counselors Working with Children Diagnosed with Asperger's

    ERIC Educational Resources Information Center

    Guo, Yuh-Jen; Wang, Shu-Ching; Corbin-Burdick, Marilyn F.; Statz, Shelly R.

    2013-01-01

    Asperger Syndrome (AS) presents unique challenges to both families and schools. Children diagnosed with Asperger's possess unparalleled characteristics in cognitive functioning and behavioral pattern. These children need extra attention and assistance in schools. School counselors require a strategy to successfully engage and support these…

  3. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    PubMed Central

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome. PMID:25506011

  4. Sheehan's syndrome presenting as psychosis: a rare clinical presentation

    PubMed Central

    Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid

    2013-01-01

    Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state. PMID:23483784

  5. Goldenhar syndrome.

    PubMed

    Sharma, Neeraj; Passi, Sidhi

    2013-01-01

    Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. PMID:23852257

  6. Genetic predisposition increases the tic severity, rate of comorbidities, and psychosocial and educational difficulties in children with Tourette syndrome.

    PubMed

    Eysturoy, Absalon Niclas; Skov, Liselotte; Debes, Nanette Mol

    2015-03-01

    This study aimed to examine whether there are differences in tic severity, comorbidities, and psychosocial and educational consequences in children with Tourette syndrome and genetic predisposition to Tourette syndrome compared with children with Tourette syndrome without genetic predisposition to Tourette syndrome. A total of 314 children diagnosed with Tourette syndrome participated in this study. Validated diagnostic tools were used to assess tic severity, comorbidities, and cognitive performance. A structured interview was used to evaluate psychosocial and educational consequences related to Tourette syndrome. The children with Tourette syndrome and genetic predisposition present with statistically significant differences in terms of severity of tics, comorbidities, and a range of psychosocial and educational factors compared with the children with Tourette syndrome without genetic predisposition. Professionals need to be aware of genetic predisposition to Tourette syndrome, as children with Tourette syndrome and genetic predisposition have more severe symptoms than those children with Tourette syndrome who are without genetic predisposition. PMID:25156665

  7. The Relationship of Repetitive Behavior and Sensory Behavior to Parenting Stress in Mothers of Boys with Autism and Mothers of Boys with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Richardson, Lolita Lisa

    2010-01-01

    This study investigated the relationship between repetitive behaviors and sensory behavior to the parenting stress of mothers of boys with fragile X syndrome and mothers of boys with autism. Participants consisted of two groups: 51 mothers with boys diagnosed with fragile X syndrome (M = 71.3, SD = 56.5) and 30 mothers with boys diagnosed with…

  8. Sheehan's syndrome: Newer advances

    PubMed Central

    Shivaprasad, C.

    2011-01-01

    Sheehan's syndrome (SS) is postpartum hypopituitarism caused by necrosis of the pituitary gland. It is usually the result of severe hypotension or shock caused by massive hemorrhage during or after delivery. Patients with SS have varying degrees of anterior pituitary hormone deficiency. Its frequency is decreasing worldwide and it is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care. However, it is still frequent in underdeveloped and developing countries. SS often evolves slowly and hence is diagnosed late. History of postpartum hemorrhage, failure to lactate and cessation of menses are important clues to the diagnosis. Early diagnosis and appropriate treatment are important to reduce morbidity and mortality of the patients. PMID:22029025

  9. Neuroleptic Malignant Syndrome

    PubMed Central

    Berman, Brian D.

    2011-01-01

    Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. It has been associated with virtually all neuroleptics, including newer atypical antipsychotics, as well as a variety of other medications that affect central dopaminergic neurotransmission. Although uncommon, NMS remains a critical consideration in the differential diagnosis of patients presenting with fever and mental status changes because it requires prompt recognition to prevent significant morbidity and death. Treatment includes immediately stopping the offending agent and implementing supportive measures, as well as pharmacological interventions in more severe cases. Maintaining vigilant awareness of the clinical features of NMS to diagnose and treat the disorder early, however, remains the most important strategy by which physicians can keep mortality rates low and improve patient outcomes. PMID:23983836

  10. Caudal Duplication Syndrome

    PubMed Central

    Sur, Amitava; Sardar, Syamal Kumar; Paria, Anshuman

    2013-01-01

    Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level. PMID:24049755

  11. Caudal duplication syndrome.

    PubMed

    Sur, Amitava; Sardar, Syamal Kumar; Paria, Anshuman

    2013-04-01

    Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level. PMID:24049755

  12. Bartter syndrome

    MedlinePLUS

    ... to reabsorb sodium. Persons affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone, and makes the kidneys remove too much potassium from the body. This ...

  13. Marfan Syndrome

    MedlinePLUS

    ... Loeys-Dietz is more likely to cause fatal aortic aneurysms, and treatment for the two is different. A ... shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. Studies ...

  14. Aicardi syndrome

    MedlinePLUS

    ... and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  15. Sjögren's Syndrome

    MedlinePLUS

    ... effects of saliva, you may develop more dental decay (cavities) and mouth infections. Sjögren’s syndrome can also ... mouth makes you extremely prone to progressive dental decay (cavities). Water. Take sips of water or another ...

  16. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  17. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  18. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  19. Alagille Syndrome

    MedlinePLUS

    ... bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the ... syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of ...

  20. Ohtahara Syndrome

    MedlinePLUS

    ... have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is ... a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known ...

  1. Sotos Syndrome

    MedlinePLUS

    ... threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age ...

  2. Marfan Syndrome

    MedlinePLUS

    ... surgery. Some people may also choose to have surgery for cosmetic reasons. Anyone with heart problems associated with Marfan syndrome (especially anyone who's had heart surgery) should always take antibiotics before going to the ...

  3. Menkes syndrome

    MedlinePLUS

    Menkes syndrome is an inborn error of metabolism in which cells in the body can absorb copper, but are unable to release it. ... Houwen RHJ. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium, and Zinc. In: Saudubray J- ...

  4. Hurler Syndrome

    MedlinePLUS

    ... the body how to work properly. In Hurler syndrome, the body has a defective gene and cannot make an important enzyme. Enzymes are proteins inside cells that break down larger building block chemicals into smaller ones. When ...

  5. Down Syndrome

    MedlinePLUS

    ... Special help, such as physical therapy and speech therapy , can give kids a boost with their walking and talking skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

  6. Aortoduodenal syndrome.

    PubMed

    Takagi, H; Watanabe, T; Umemoto, T

    2015-10-01

    Duodenal obstruction caused by abdominal aortic aneurysm (AAA), i.e. "aortoduodenal syndrome," first described by Osler in 1905 is a rare clinical entity, with only several dozens of cases reported in the literature. In the present paper, we systematically searched literature and reviewed them. Databases including MEDLINE and EMBASE were searched from January 1981 to April 2014 using Web-based search engines (PubMed and OVID). Eighteen papers reported 21 cases with aortoduodenal syndrome. Mean age of patients was 74.5±8.4 years, 71.4% of patients were men, and mean AAA diameter was 7.2±2.1 cm. We also discussed confusion between aortoduodenal syndrome and "superior mesenteric artery syndrome" associated with AAA. PMID:25216355

  7. Sjogren's Syndrome

    MedlinePLUS

    ... and destroy the glands that produce tears and saliva. Sjögren's syndrome is also associated with rheumatic disorders ... increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, ...

  8. Hepatorenal syndrome.

    PubMed

    Bataller, R; Ginčs, P; Guevara, M; Arroyo, V

    1997-01-01

    Hepatorenal syndrome is a common complication in patients with advanced cirrhosis and ascites characterized not only by renal failure but also by marked alterations in systemic hemodynamics and vasoactive systems. Renal failure is due to a marked hypoperfusion of the kidney secondary to renal vasoconstriction. The pathogenesis of hepatorenal syndrome is not completely known but it is thought to be the extreme manifestation of the underfilling of the arterial circulation secondary to an arterial vasodilation, located mainly in the splanchnic circulation. Recently, a new definition and diagnostic criteria of hepatorenal syndrome have been proposed, which has stimulated research in this field. Prognosis of patients with hepatorenal syndrome is very poor. Liver transplantation is the only effective treatment but it is not applicable in all patients due to short survival. New therapies developed during the last few years, such as the use of systemic vasoconstrictors or transjugular intrahepatic portosystemic shunts appear promising, but their usefulness should be evaluated in prospective investigations. PMID:9308128

  9. Isaac's Syndrome

    MedlinePLUS

    ... typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only ... neurological conditions that can be caused by potassium channel antibodies. Is there any treatment? Anticonvulsants, including phenytoin ...

  10. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report

    PubMed Central

    2011-01-01

    Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches. PMID:22054059

  11. Hyperventilation syndrome

    Microsoft Academic Search

    Richard E. Brashear

    1983-01-01

    The hyperventilation syndrome, primary alveolar hyperventilation and respiratory alkalosis accompanied by various signs and\\u000a symptoms, occurs in about 6–11% of the general patient population. The causes of hyperventilation are: 1) organic and physiologic\\u000a and, 2) psychogenic (emotional\\/habit). Hyperventilation syndrome excludes hyperventilation that is compensatory or caused\\u000a by organic or physiologic factors. Acute or chronic anxiety is usually considered the predominant

  12. Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome

    E-print Network

    Whitaker, John K; Alexander, Philip; Chau, David YS; Tint, Naing L

    2012-09-03

    Abstract Background Inferior conjunctivochalasis is common, but is rarely severe enough to require conjunctival excision. This report describes a patient with severe conjunctivochalasis who was subsequently diagnosed with Ehlers Danlos Syndrome...

  13. Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns

    PubMed Central

    Pawar, Sunil Jayaram; Sharma, Deepak Kumar; Srilakshmi, Sela; Reddy Chejeti, Suguna; Pandita, Aakash

    2015-01-01

    Introduction: Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. Case Presentation: A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up. Conclusions: Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome. PMID:26196008

  14. [Functional somatic syndrome in dental practice].

    PubMed

    Inamitsu, Tetsuaki

    2009-09-01

    Functional somatic syndromes (FSSs) are common in dental as well as medical practice. Many patients with unexplained symptoms in oro-maxillo-facial areas visit dentists, but they are not diagnosed and treated properly. Temporomandibular disorder, atypical facial pain, and glossodynia (burning mouth syndrome) are included in dental FSSs. These diseases overlap with each other and with FSSs in other organs, such as myofacial pain syndrome, tension-type headache, fibromyalgia, and chronic fatigue syndrome. They coexist with mental disorders, such as anxiety disorder, mood disorder, and somatoform disorder. Multidisciplinary and holistic approaches should be applied to dental FSSs; pharmacological therapy (antidepressants), physical therapy, and cognitive-behavioral therapy. Clinicians have to support a patient in"enjoying his/her life with symptoms". Dental specialists in "oral medicine" with psychosomatic viewpoints are now required. PMID:19768911

  15. Alagille syndrome.

    PubMed Central

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

  16. Diagnosing Asthma in Very Young Children

    MedlinePLUS

    ... Listen Espańol Text Size Email Print Share Diagnosing Asthma in Babies & Toddlers Article Body One of the ... family with recurrent bronchitis or sinus problems. When Asthma is Not the Cause Your pediatrician will listen ...

  17. Diagnosing Diabetes and Learning about Prediabetes

    MedlinePLUS

    ... Size: A A A Listen En Espańol Diagnosing Diabetes and Learning About Prediabetes There are several ways ... mg/dl – 199 mg/dl Preventing Type 2 Diabetes You will not develop type 2 diabetes automatically ...

  18. How Do Health Care Providers Diagnose Hypoparathyroidism?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose hypoparathyroidism? Skip sharing on social media links Share this: Page Content A health care provider will order a blood test to determine ...

  19. How Do Health Care Providers Diagnose Pheochromocytoma?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose pheochromocytoma? Skip sharing on social media links Share this: Page Content A health care provider uses blood and urine tests that measure ...

  20. How Do Health Care Providers Diagnose Endometriosis?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications How do health care providers diagnose endometriosis? Skip sharing on social media ... under a microscope, to confirm the diagnosis. 1 Health care providers may also use imaging methods to produce ...

  1. How Are Congenital Heart Defects Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Are Congenital Heart Defects Diagnosed? Severe congenital heart defects generally are ... imaging facility aims to improve treatment for congenital heart disease 07/30/2013 Google+ Hangout on the ...

  2. Diagnosing spatial variation patterns in manufacturing processes 

    E-print Network

    Lee, Ho Young

    2004-09-30

    This dissertation discusses a method that will aid in diagnosing the root causes of product and process variability in complex manufacturing processes when large quantities of multivariate in-process measurement data are ...

  3. Tics and Tourette Syndrome

    MedlinePLUS

    MENU Return to Web version Tics and Tourette Syndrome Overview What is Tourette syndrome? Tourette syndrome is a type of tic disorder. Children who have Tourette syndrome will repeat both movements ...

  4. What Are Myelodysplastic Syndromes?

    MedlinePLUS

    ... How many people get myelodysplastic syndromes? What are myelodysplastic syndromes? Myelodysplastic syndromes (MDS) are conditions that occur when ... of blood vessels caused by cuts or bruises. Myelodysplastic syndromes In MDS, some of the cells in the ...

  5. Myelodysplastic Syndromes (MDS)

    MedlinePLUS

    ... syndromes (MDS) Email this page Print this page Myelodysplastic syndromes (MDS) Myelodysplastic syndromes (MDS) are a group of diseases that affect ... other types are severe and life-threatening. Tweet Myelodysplastic syndromes (MDS) Symptoms of MDS How transplant can treat ...

  6. Tethered Spinal Cord Syndrome

    MedlinePLUS

    NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to jump to sections) What is Tethered Spinal Cord Syndrome? Is ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  7. Down Syndrome (For Parents)

    MedlinePLUS

    About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays ... rises to about 1 in 100. Continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  8. Carpal Tunnel Syndrome

    MedlinePLUS

    ... important to know the difference. What is carpal tunnel syndrome? Carpal tunnel syndrome is possibly the most ... permanent nerve and muscle damage. What causes carpal tunnel syndrome? Carpal tunnel syndrome may occur in patients ...

  9. Carpal Tunnel Syndrome

    MedlinePLUS

    NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Organizations Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition ...

  10. Hyperimmunoglobulin E syndrome

    MedlinePLUS

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

  11. Night eating patterns of individuals with eating disorders: Implications for conceptualizing the night eating syndrome

    Microsoft Academic Search

    Jennifer D. Lundgren; Ashley McCune; Carrie Spresser; Paula Harkins; Lauren Zolton; Konoy Mandal

    2011-01-01

    The prevalence, correlates, and symptom coherence of night eating syndrome (NES) in individuals seeking inpatient treatment for eating disorders were assessed. Inpatients (n=68; M age=29.8years; % female=94.1; % diagnosed with anorexia nervosa [AN]=47.1; % diagnosed with bulimia nervosa [BN]=47.1) were interviewed with the Night Eating Syndrome History and Inventory. Additionally, medical charts were reviewed and participants completed measures of eating

  12. Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

    PubMed Central

    Sharma, Deepak; Lamba, Sachin; Pandita, Aakash; Shastri, Sweta

    2015-01-01

    Klippel–Trénaunay syndrome (KTS or KT) is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands), venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop) overgrowing of limb and correction of bone deformity. PMID:25861232

  13. Historical facts of screening and diagnosing diabetes in pregnancy.

    PubMed

    Negrato, Carlos Antonio; Gomes, Marilia Brito

    2013-01-01

    Diabetes is the most common metabolic disorder affecting pregnancy. Its prevalence seems to be growing in parallel with the epidemics of overweight and obesity. Recognizing and treating diabetes or any degree of glucose intolerance in pregnancy results in lowering maternal and fetal complications. These patients present higher risk for excessive weight gain, preeclampsia, cesarean sections, a high risk of developing type 2 diabetes and cardiovascular disease in the future. Infants born to these mothers are at higher risk for macrosomia and birth trauma, and after delivery, these infants have a higher risk of developing hypoglycemia, hypocalcemia, hyperbilirubinemia, respiratory distress syndrome, polycythemia and subsequent obesity and type 2 diabetes. Despite several international workshops and a lot of research there is still no unique approach to diagnose and treat diabetes in pregnancy. Who, when and how to screen and diagnose diabetes in pregnancy has been debated in the literature for so many decades and this debate seems to be endless. We present the evolution that screening and diagnosing diabetes in pregnancy has had over time. Besides many evidence of the benefits these procedures bring, health care providers still often prefer to use alternate criteria for this purpose. The myriad of maternal and fetal complications that could be avoided with an appropriate and simple screening procedure are ignored. Robust clinical trials such as the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) study have shown how harmful can even slightly altered blood glucose levels be, but it has been found a resistance in the adoption of the new criteria proposed after this and other trials by many diabetes organizations. These organizations state that these new criteria would increase the incidence of diabetes in pregnancy, would imply in longer term follow-up of these patients and would pose an economic problem; they also state that alerting too many people in order to benefit a relatively few potential diabetics would arise psychologic ill-effects. We think that health care providers should look for an uniformity in the screening and diagnosing diabetes in pregnancy based on evidence based medicine and not on specialists consensus. PMID:23634949

  14. Hyperventilation and exhaustion syndrome

    PubMed Central

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification – F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called ‘Grounding’, a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients’ average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = ?3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = ?0.514, p < 0.01), pain (r = ?.370, p < 0.05) and poor well-being (Medical Outcomes Survey Short Form 36 questionnaire- SR Health r = ?0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R2 = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding. PMID:24134551

  15. Paraneoplastic syndromes in rheumatology.

    PubMed

    Manger, Bernhard; Schett, Georg

    2014-11-01

    For patients that present with musculoskeletal symptoms, diagnostic procedures carried out by physicians and rheumatologists are primarily aimed at confirming or excluding the occurrence of primary rheumatic diseases. Another important trigger for musculoskeletal disease, however, is the presence of a tumour. Careful clinical investigation and knowledge of the gestalt of musculoskeletal syndromes related to respective tumour entities is of utmost importance for the diagnosis of paraneoplastic rheumatic diseases such as hypertrophic osteoarthropathy, paraneoplastic polyarthritis, RS3PE syndrome, palmar fasciitis and polyarthritis, cancer-associated myositis and tumour-induced osteomalacia. This places great responsibility on rheumatologists in diagnosing malignancies and referring the patient for effective treatment. The selective influence of tumours on musculoskeletal tissue is surprising and indicates that tumours alter tissues such as the periosteum, synovial membrane, subcutaneous connective tissue, fascia, muscles and bones by specific molecular processes. Some of the underlying mechanisms have been unravelled, providing valuable information on the physiologic and pathophysiologic roles of mediators such as vascular endothelial growth factor and fibroblast growth factor 23. PMID:25136782

  16. [Diagnostic criteria for Asperger syndrome].

    PubMed

    Tanaka, Kyoko; Uchiyama, Tokio

    2007-03-01

    The diagnostic criteria for Asperger syndrome (AS) are still controversial. ICD-10 and DSM-IV are usually used as a formal diagnostic criteria for AS. However, many papers point out there are many problems in ICD-10/DSM-IV. It is indicated that the diagnosis of AS using ICD-10/DSM-IV criteria is virtually impossible due to the rule of onset and precedence. ICD-10/DSM-IV criteria don't include core symptoms of AS, such as odd speech and limited intelligent interests reported by Hans Asperger. Most of the cases which are diagnosed as AS clinically meet the diagnostic criteria for autism or atypical autism(PDD-NOS) in ICD-10/DSM-IV. ICD-10/DSM-IV criteria is too narrow to diagnose AS. This causes much confusion and disadvantage for families, clinicians and researchers. We need to establish the clinically useful and reliable diagnostic criteria for AS. PMID:17354560

  17. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    PubMed Central

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, Joăo J.

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  18. The behavioral spectrum of Gilles de la Tourette syndrome.

    PubMed

    Cavanna, Andrea Eugenio; Servo, Serena; Monaco, Francesco; Robertson, Mary May

    2009-01-01

    Gilles de la Tourette syndrome is a neurodevelopmental disorder consisting of multiple motor and one or more vocal/phonic tics. Tourette's syndrome is increasingly recognized as a common neuropsychiatric disorder usually diagnosed in early childhood, and comorbid neuropsychiatric disorders occur in approximately 90% of patients; the most common of these are attention deficit hyperactivity disorder and obsessive-compulsive disorder. Depression is also common, with a lifetime risk of 10% of patients. Moreover, a high prevalence of personality disorders has been reported in preliminary investigations on Tourette's syndrome populations. This paper provides an updated review of the literature on the multifaceted phenotype of Tourette's syndrome, with special attention to the behavioral problems and the relationship between Tourette's syndrome and comorbid neuropsychiatric conditions. The issue of whether Tourette's syndrome should still be considered as a unitary nosological entity is also addressed. PMID:19359447

  19. Ellis-van Creveld syndrome

    PubMed Central

    Sasalawad, Shilpa S; Hugar, Shivayogi M; Poonacha, K S; Mallikarjuna, Rachappa

    2013-01-01

    Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but the dental literature on the subject is scarce. The present case describes the constant and variable oral findings in these patients, which can be diagnosed at any age, even during pregnancy. The presence of a variety of oral manifestations, such as fusion of upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients. PMID:23843404

  20. Ellis-van Creveld syndrome.

    PubMed

    Sasalawad, Shilpa S; Hugar, Shivayogi M; Poonacha, K S; Mallikarjuna, Rachappa

    2013-01-01

    Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but the dental literature on the subject is scarce. The present case describes the constant and variable oral findings in these patients, which can be diagnosed at any age, even during pregnancy. The presence of a variety of oral manifestations, such as fusion of upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients. PMID:23843404

  1. Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

    PubMed Central

    Barnum, Richard

    2014-01-01

    Conversion Disorder (CD) is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly) diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially) patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely) event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care. PMID:24808723

  2. [POEMS syndrome].

    PubMed

    Rose, C; Mahieu, M; Hachulla, E; Facon, T; Hatron, P Y; Bauters, F; Devulder, B

    1997-07-01

    POEMS syndrome is an acronym defined by Bardwick (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal component and Skin changes). Other various clinical and biological features are reported: edema, cachexia, microangiopathic glomerulopathy, most rarely pulmonary hypertension, cutaneous necrosis. Thrombocytosis or polycythemia may be a prominent feature. POEMS syndrome is sometimes associated with lymphoproliferative disorder. Castelman-like disease is frequently observed as pathologic findings on lymph nodes. Distinction between POEMS syndrome and osteosclerotic myeloma is delicate. The rate of the monoclonal protein is modest-always less than 30 g/L-and is almost of the lambda light chain class. In contrast to multiple myeloma this syndrome is rarely associated with hypercalcemia, skeletal fracture, renal involvement and increasing of M component during evolution. Bone marrow plasmocytosis is usually less than 15% and the kinetic phenotype and genetic characteristics of the plasma cell remain those found in monoclonal gammopathy of undetermined significance. The pathophysiology of this syndrome remains largely unknown but overproduction of pro-inflammatory cytokines are reported, especially TNF alpha, IL-6 and IL-1 beta. Some clinical manifestations seem to be cytokine related. Polyneuropathy and cachexia are the main cause of death. A part corticosteroid and cure of solitary bone lesion, treatment is disappointing and survival is 60% at five years. PMID:9255373

  3. Placental pathology in fetal bartter syndrome.

    PubMed

    Ernst, Linda M; Parkash, Vinita

    2002-01-01

    Bartter syndrome, which presents clinically with polyuria, urinary potassium loss, hypokalemia, hypercalciuria, and alkalosis, is an autosomal recessive disorder with mutations in genes encoding the Na-K-2Cl cotransporter, the chloride channel CLC-NKB, and the potassium channel ROMK. Prenatal diagnosis of Bartter syndrome is now possible; however, there are no reports of the placental pathology associated with fetal Bartter syndrome. We present the placental pathologic findings in two siblings with fetal Bartter syndrome. Both pregnancies were complicated by polyhydramnios and preterm delivery. The first pregnancy delivered at 30 weeks, and Bartter syndrome was diagnosed in the perinatal period. The subsequent pregnancy required periodic therapeutic amniocentesis secondary to massive polyhydramnios and delivered at 32 weeks gestation. The suspicion of fetal Bartter syndrome was very high in this second pregnancy, and the infant was confirmed to have Bartter syndrome subsequently. Both placentas were large for gestational age, weighing greater than the 95th percentile. Microscopic examination showed extensive subtrophoblastic basement membrane mineralization (special stains positive for iron and calcium) in the chorionic villi. This striking finding was present in both placentas. Subtrophoblastic mineralization has been described in the literature in placentas of fetuses with abnormalities including anencephaly, trisomy 21, and other congenital abnormalities; however, it has also been described in normal pregnancies. Mechanisms of calcification in the placenta are not well understood, but these striking cases suggest that defects in fetal renal excretion of ions can lead to dystrophic calcification within the placenta, particularly in a subtrophoblastic pattern. PMID:11815871

  4. Uncommon headache syndromes in the pediatric population.

    PubMed

    Arruda, Marco A; Albuquerque, Regina C A P; Bigal, Marcelo E

    2011-08-01

    Headache is one of the most common symptoms in children and adolescents, and headache syndromes are an important reason for medical consulting. According to the second edition of the International Classification of Headache Disorders, there are 196 possible headache diagnoses, of which 113 have been described in pediatric population. Herein, we focus on unusual pediatric headache syndromes. We group them as headaches with migraine features, short-duration headaches with autonomic features, short-duration headaches without autonomic features, and potentially ominous forms of headaches. Although rare as single entities, providers focusing on pediatric headaches certainly will face some of these headaches and need to be comfortable on the diagnostic approach. PMID:21403994

  5. [Psychiatric symptoms can reveal Turner syndrome].

    PubMed

    Thusgaard, Helle; Arnfred, Sidse Marie H

    2013-02-01

    Turner syndrome is usually diagnosed by physical characteristics, i.e. low height and infertility. This case report presents a woman, who was referred to a chromosome analysis at the age of 35 years, due to a specific pattern of psychiatric symptoms. She felt childish, had strong emotional bonds to her family, yet lacked friendships and intimate relationships. She had moderate symptoms of obsessive-compulsive disorder with a sexual content. Confronted with this constellation of symptoms, psychiatrists and psychologists should be aware of Turner syndrome. PMID:23402244

  6. Ascher's syndrome: A rare case report

    PubMed Central

    Chandravanshi, Shivcharan Lal; Mishra, Vinay

    2015-01-01

    An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher's syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament. PMID:25971175

  7. Hemolysis in Acute Alcoholic Hepatitis: Zieve's Syndrome

    PubMed Central

    Sitrin, Michael

    2015-01-01

    A 45-year-old man presented with acute alcoholic hepatitis, jaundice, and anemia on admission. There was no history of bleeding or any evidence of gastrointestinal blood loss. Lab studies revealed hemolysis as the cause of anemia. The patient was diagnosed with Zieve's syndrome and managed with supportive measures. He recovered well and was discharged to a detoxification unit in a stable condition. Zieve's syndrome has been described in literature, mostly in non-English language case studies, but is largely under-recognized and under-reported. Diagnosis should be made quickly to avoid unnecessary invasive diagnostic interventions.

  8. Nicolau syndrome after intramuscular benzathine penicillin injection.

    PubMed

    Noaparast, Morteza; Mirsharifi, Rasoul; Elyasinia, Fezzeh; Parsaei, Reza; Kondori, Hessam; Farifteh, Sara

    2014-11-01

    A 3-year-old boy was admitted to the emergency department with right lower limb pain, edema, and livedoid discoloration that occurred immediately after intramuscular injection of benzathine penicillin. The patient was diagnosed with Nicolau syndrome, a rare complication of intramuscular injection presumed to be related to the inadvertent intravascular injection. It was first reported following intramuscular injection of bismuth salt, but it can occur as a complication of various other drugs. Fasciotomy was carried out due to the resultant compartment syndrome and medical therapy with heparin, corticosteroid, and pentoxifyllin was initiated. PMID:25429182

  9. Nicolau Syndrome after Intramuscular Benzathine Penicillin Injection

    PubMed Central

    Noaparast, Morteza; Mirsharifi, Rasoul; Elyasinia, Fezzeh; Parsaei, Reza; Kondori, Hessam; Farifteh, Sara

    2014-01-01

    A 3-year-old boy was admitted to the emergency department with right lower limb pain, edema, and livedoid discoloration that occurred immediately after intramuscular injection of benzathine penicillin. The patient was diagnosed with Nicolau syndrome, a rare complication of intramuscular injection presumed to be related to the inadvertent intravascular injection. It was first reported following intramuscular injection of bismuth salt, but it can occur as a complication of various other drugs. Fasciotomy was carried out due to the resultant compartment syndrome and medical therapy with heparin, corticosteroid, and pentoxifyllin was initiated. PMID:25429182

  10. [Juvenile gastric polyposis in a patient with antiphospholipid syndrome].

    PubMed

    Okubo, Yohei; Koide, Naohiko; Sekino, Yasushi; Ishizone, Satoshi; Maruyama, Masafumi; Miyagawa, Shinichi

    2013-06-01

    We report a case of juvenile gastric polyposis associated with antiphospholipid syndrome. A 42-year-old woman was admitted with a chief complain of fatigue. Six years earlier, antiphospholipid syndrome was diagnosed and treated with aspirin. Two years earlier, gastric polyps were endoscopically observed, the number and size of which subsequently increased. Juvenile gastric polyposis was diagnosed on the basis of the pathological features of the biopsy specimens. Bleeding was repeatedly identified from the polyposis. Total gastrectomy was performed because of worsening anemia and hypoalbuminemia. PMID:23739735

  11. Farmer-observed health data around calving-Genetic parameters and association with veterinarian diagnoses in Austrian Fleckvieh cows.

    PubMed

    Koeck, A; Fuerst, C; Egger-Danner, C

    2015-04-01

    The objective of this study was to investigate if farmer-observed health data around calving can be used together with veterinarian diagnoses for genetic evaluations. Four diseases are recorded by farmers: retained placenta, downer cow syndrome, mastitis, and lameness. Mean disease frequencies were 4.7, 3.8, and 1.8% for retained placenta, downer cow syndrome, and mastitis, respectively. Lameness had a very low frequency (0.7%) and a preliminary analysis revealed a heritability close to zero for this trait. Therefore, lameness was not considered in the analysis. For genetic analyses, univariate and bivariate linear animal models were fitted. Heritabilities for retained placenta, downer cow syndrome, and mastitis were 0.01, 0.03, and 0.003, respectively. Genetic correlations among the investigated disease traits were low to moderate and not significantly different from zero. Pearson correlations between estimated breeding values for disease traits and other routinely evaluated traits were computed, which revealed mostly favorable relationships to fertility, maternal calving ease, muscling, and longevity. In addition, a moderate favorable association was found between mastitis and somatic cell score. Heritability estimates of farmer-observed health traits were comparable to estimates based on veterinarian diagnoses. Genetic correlations between the investigated diseases based on farmer observations and veterinarian diagnoses were almost 1, with estimates ranging from 0.98 to 0.99. These results suggest that farmer recorded health data could be used together with veterinarian diagnoses for genetic evaluations. PMID:25648813

  12. Crush syndrome.

    PubMed

    Gonzalez, Dario

    2005-01-01

    The assessment, management, and treatment of the entrapped victim are critical skills needed to ensure a successful outcome. Individuals have been trapped in the "rubble" for even short periods of time only to succumb to predictable consequences of muscle compression injury. The clinician should be prepared to address issues of crush syndrome (including compartment syndrome) proactively and aggressively. The history of this disease is clear and well documented both in the military literature and in the earthquake rescue reviews. The key to management is managing and predicting clinical conditions before they present themselves. The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. This article reviews the various body systems and presents management and assessment strategies for the clinician. PMID:15640677

  13. [Kallmann syndrome].

    PubMed

    Mokosch, A; Bernecker, C; Willenberg, H S; Neumann, N J

    2011-10-01

    The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia. PMID:21918848

  14. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  15. Diagnosis, genetics, and management of inherited bone marrow failure syndromes.

    PubMed

    Alter, Blanche P

    2007-01-01

    The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop aplastic anemia and may evolve into myelodysplastic syndrome and acute myeloid leukemia; and Diamond-Blackfan anemia, severe congenital neutropenia, and thrombocytopenia absent radii, single cytopenias that rarely if ever become aplastic but have increased risks of leukemia. In addition, the first three syndromes have high risks of solid tumors: head and neck and anogenital squamous cell carcinoma in Fanconi anemia and dyskeratosis congenita, and osteogenic sarcoma in Diamond-Blackfan anemia. Diagnosis of a marrow failure syndrome requires recognition of characteristic physical abnormalities when present, and consideration of these disorders in the differential diagnosis of patients who present with "acquired" aplastic anemia, myelodysplastic syndrome, acute myeloid leukemia, or atypically early cancers of the types seen in the syndromes. Ultimate proof will come from identification of pathogenic mutations in genes associated with each syndrome. PMID:18024606

  16. Night eating patterns of individuals with eating disorders: implications for conceptualizing the night eating syndrome.

    PubMed

    Lundgren, Jennifer D; McCune, Ashley; Spresser, Carrie; Harkins, Paula; Zolton, Lauren; Mandal, Konoy

    2011-03-30

    The prevalence, correlates, and symptom coherence of night eating syndrome (NES) in individuals seeking inpatient treatment for eating disorders were assessed. Inpatients (n=68; M age=29.8 years; % female=94.1; % diagnosed with anorexia nervosa [AN]=47.1; % diagnosed with bulimia nervosa [BN]=47.1) were interviewed with the Night Eating Syndrome History and Inventory. Additionally, medical charts were reviewed and participants completed measures of eating behavior and quality of life. NES was diagnosed in 25% of patients; significantly more patients diagnosed with BN meet criteria for NES compared to those diagnosed with AN. In general, patients with NES did not differ from patients without NES on eating behaviors, attitudes, or quality of life; symptoms of NES frequently co-occurred. This study supports previous research finding that night eating behavior is common in individuals diagnosed with eating disorders. PMID:20826005

  17. Sjögren's syndrome: diagnosis and management of oral complications.

    PubMed

    Lilly, J P; Fotos, P G

    1996-01-01

    Sjogren's syndrome, a common autoimmune disease process, is characterized by destruction of exocrine (including the lacrimal and salivary) glands. Patients with this disorder may initially complain of a dry mouth or have rapid onset of new carious lesions. Here, a case of Sjogren's syndrome is presented that was initially diagnosed because of dental complaints, and long-term treatment of Sjogren's patients is discussed. PMID:9171038

  18. Levetiracetam in the treatment of Lennox-Gastaut syndrome

    Microsoft Academic Search

    Emily C de los Reyes; Gregory B Sharp; Jane P Williams; Sue E Hale

    2004-01-01

    Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by multiple seizure types, mental retardation, and a slow spike-and-wave pattern on electroencephalography. Medical intractability is common. We identified a case series of six patients diagnosed with Lennox-Gastaut syndrome in which levetiracetam was initiated as add-on therapy for the management of seizures. At follow-up, four patients experienced 100% reduction of their myoclonic seizures;

  19. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  20. Validation of the Children's Interview for Psychiatric Syndromes (ChIPS) with Psychiatrically Hospitalized Adolescents

    ERIC Educational Resources Information Center

    Swenson, Lance P.; Esposito-Smythers, Christianne; Hunt, Jeffrey I.; Hollander, Beth L. G.; Dyl, Jennifer; Rizzo, Christie J.; Steinley, Douglas L.; Spirito, Anthony

    2007-01-01

    A study was conducted to examine the concurrent validity of the Children's Interview for Psychiatric Syndromes (ChIPS) for adolescent inpatients aged 12 to 18. The results reveal moderate agreement between ChIPS diagnoses and Schedule for Affective Disorder sand Schizophrenia for School-Age Children-Present and Lifetime version diagnoses.

  1. Serotonin syndrome.

    PubMed

    Bodner, R A; Lynch, T; Lewis, L; Kahn, D

    1995-02-01

    We describe a patient treated with trazodone, isocarboxazid, and methylphenidate hydrochloride who developed confusion, agitation, poor concentration, rigidity, myoclonus, involuntary movements, orthostatic hypotension, and hyperreflexia. CK was normal, and the syndrome resolved spontaneously over 12 hours. The serotonin syndrome occurs following the use of serotomimetic agents (serotonin reuptake inhibitors, tricyclic and tetracyclic antidepressants, tryptophan, 3,4-methylenedioxy-methamphetamine, dextromethorphan, meperidine, S-adenosylmethionine) alone or in combination with monoamine oxidase inhibitors. It is characterized by various combinations of myoclonus, rigidity, hyperreflexia, shivering, confusion, agitation, restlessness, coma, autonomic instability, low-grade fever, nausea, diarrhea, diaphoresis, flushing, and rarely, rhabdomyolysis and death. PMID:7854515

  2. Improving Multiple Fault Diagnosability using Possible Conflicts

    NASA Technical Reports Server (NTRS)

    Daigle, Matthew J.; Bregon, Anibal; Biswas, Gautam; Koutsoukos, Xenofon; Pulido, Belarmino

    2012-01-01

    Multiple fault diagnosis is a difficult problem for dynamic systems. Due to fault masking, compensation, and relative time of fault occurrence, multiple faults can manifest in many different ways as observable fault signature sequences. This decreases diagnosability of multiple faults, and therefore leads to a loss in effectiveness of the fault isolation step. We develop a qualitative, event-based, multiple fault isolation framework, and derive several notions of multiple fault diagnosability. We show that using Possible Conflicts, a model decomposition technique that decouples faults from residuals, we can significantly improve the diagnosability of multiple faults compared to an approach using a single global model. We demonstrate these concepts and provide results using a multi-tank system as a case study.

  3. [Nursing diagnoses for diabetic patients using insulin].

    PubMed

    Becker, Tânia Alves Canata; Teixeira, Carla Regina de Souza; Zanetti, Maria Lúcia

    2008-01-01

    This is a descriptive study with a qualitative approach that has as objective to identify the nursing diagnoses of diabetic patients using insulin, having as inquiry method the study of multiple cases. The data were obtained by the researcher by means of physical examination and the technique of interview directed in the instrument based on the Orem's Self-Care Theory. After data collection, the diagnostic indentification was proceeded from the nominated nursing diagnoses of NANDA Taxonomy II, using Risner's reasoning diagnostic process. The identified nursing diagnoses with a higher frequency than 50% were six: impaired skin integrity (100%), risk for infection (100%), behavior of health search (57,2%), disturbed sleep (57,2%), chronic pain (57,2%) and risk for peripheral neurovascular dysfunction (57,2%). The application of the nursing process based in Orem and the importance of the identified diagnostic for clients nursing care were evidenced. PMID:19142391

  4. The ICD diagnoses of fetishism and sadomasochism.

    PubMed

    Reiersřl, Odd; Skeid, Svein

    2006-01-01

    In this article we discuss psychiatric diagnoses of sexual deviation as they appear in the International Classification of Diseases (ICD-10), the internationally accepted classification and diagnostic system of the World Health Organization (WHO). Namely, we discuss the background of three diagnostic categories: Fetishism (F65.0), Fetishistic Transvestism (F65.1), and Sadomasochism (F65.5). Pertinent background issues regarding the above categories are followed by a critique of the usefulness of diagnosing these phenomena today. Specifically, we argue that Fetishism, Fetishistic Transvestism, and Sadomasochism, also labeled Paraphilia or perversion, should not be considered illnesses. Finally, we present the efforts of an initiative known as ReviseF65, which was established in 1997, to abolish these diagnoses. PMID:16803767

  5. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

    PubMed

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases. PMID:26029310

  6. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature

    PubMed Central

    Hodhod, Amr; Umurangwa, Florence; El-Sherbiny, Mohamed

    2015-01-01

    We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases.

  7. Tourette Syndrome: A Collaborative Approach Focused on Empowering Students, Families and Teachers

    ERIC Educational Resources Information Center

    Christner, Beth; Dieker, Lisa A.

    2008-01-01

    Tourette syndrome (TS) is a neurobiological disorder marked by a wide range of involuntary motor and vocal movements and sounds called "tics" (American Psychiatric Association, APA, 2000). This syndrome is frequently misunderstood and difficult to diagnose (Chamberlain, 2003). Recent television shows featuring the topic of TS such as "The Oprah…

  8. Tardive or Atypical Tourette's Disorder in a Population with Down Syndrome?

    ERIC Educational Resources Information Center

    Myers, Beverly; Pueschel, Siegfried M.

    1995-01-01

    In a population of 425 individuals with Down's syndrome, 5 persons (1.2%) were identified as having Tourette's disorder. The lack of interrelationship between Down's syndrome and Tourette's disorder argues against an atypical Tourette's disorder. Diagnoses of tardive Tourette's disorder were based on absence of family history of Tourette's, late…

  9. Strategies to Increase the Physical Activity Participation of Young Adults with Asperger Syndrome in Community Programs

    ERIC Educational Resources Information Center

    Hamm, Jessica; Driver, Simon

    2015-01-01

    Currently one in 50 American school-age children is diagnosed with Autism. Although Asperger Syndrome is no longer acknowledged as a separate diagnosis, this article refers to high-functioning individuals with Autism as having Asperger Syndrome, since it is a culturally relevant term. One of the most challenging times for individuals with Asperger…

  10. Referral Pattern and Special Interests in Children and Adolescents with Asperger Syndrome: A Turkish Referred Sample

    ERIC Educational Resources Information Center

    Tanidir, Canan; Mukaddes, Nahit M.

    2014-01-01

    Objectives: To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey. Methods: This study includes 61 children and adolescents diagnosed with Asperger syndrome using…

  11. Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report

    PubMed Central

    Krishnamoorthy, Sridevi; Gopikrishna, Velayutham

    2015-01-01

    Taurodontism is a developmental anomaly of a tooth characterized by large pulp chamber and short roots. Patients with multiple taurodontic teeth are associated with the probability of a systemic syndrome or chromosomal anomaly. This is the first reported incidence of the endodontic management of a hyper taurodontic mandibular second molar in a patient diagnosed with 48, XXYY syndrome.

  12. HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome: The benefit of corticosteroids

    Microsoft Academic Search

    Matthew J. Tompkins; Siva Thiagarajah

    1999-01-01

    Objective: The purpose of this study was to determine the effect of corticosteroids on platelet counts and liver functions in women with pregnancies complicated by the HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome. Study Design: The study group consisted of 93 patients between 24 and 34 weeks’ gestation diagnosed with HELLP syndrome. All were given intramuscular injections of

  13. Mortality of Women with Polycystic Ovary Syndrome at Long-term Follow-up

    Microsoft Academic Search

    T. Pierpoint; P. M. McKeigue; A. J. Isaacs; S. H. Wild; H. S. Jacobs

    1998-01-01

    Metabolic disturbances associated with insulin resistance are present in most women with polycystic ovary syndrome. This has led to suggestions that women with polycystic ovary syndrome may be at increased risk of cardiovascular disease in later life. We undertook a long-term follow-up study to test whether cardiovascular mortality is increased in these women. A total of 786 women diagnosed with

  14. Living with Lowe's Syndrome. A Guide for Families, Friends, and Professionals.

    ERIC Educational Resources Information Center

    Lowe's Syndrome Association, Inc., West Lafayette, IN.

    The document describes Lowe's syndrome, a hereditary condition that affects only males and is typically diagnosed during the first year of life. Effects of Lowe's syndrome on the eyes (cataracts, glaucoma, corneal degeneration, and strabismus) are discussed, as well as related problems with the central nervous system, muscles, kidneys, bones, and…

  15. Chronology of comorbid and principal syndromes in first-episode psychosis

    Microsoft Academic Search

    Stephen M Strakowski; Paul E Keck; Susan L McElroy; Heather S Lonczak; Scott A West

    1995-01-01

    Psychiatric comorbidity is common in psychotic disorders, but the chronology of comorbid and principal diagnoses has not been closely examined. Understanding chronology may be important for identifying risk factors, or alternatively, prodromal syndromes, for some patients with psychosis. To address this issue, we examined the rates of antecedent comorbid syndromes in patients with first-episode psychoses. Patients aged ?12 years presenting

  16. Implementing Syndromic Surveillance: A Practical Guide Informed by the Early Experience

    Microsoft Academic Search

    Kenneth D Mandl; J Marc Overhage; Michael M Wagner; William B Lober; Paola Sebastiani; Farzad Mostashari; Julie A Pavlin; Per H Gesteland; Tracee Treadwell; Eileen Koski; Lori Hutwagner; David L Buckeridge; Raymond D Aller; Shaun Grannis

    2004-01-01

    Syndromic surveillance refers to methods relying on detection of individual and population health indicators that are discernible before confirmed diagnoses are made. In particular, prior to the laboratory confirmation of an infectious disease, ill persons may exhibit behavioral patterns, symptoms, signs, or laboratory findings that can be tracked through a variety of data sources. Syndromic surveillance systems are being developed

  17. Working for Your Child with Willis-Ekbom Disease / Restless Legs Syndrome in the Healthcare System

    MedlinePLUS

    ... Working for Your Child with Willis-Ekbom disease/ Restless Legs Syndrome in the Healthcare System When your child or ... diagnosed with WillisEkbom disease (WED), also known as restless legs syndrome (RLS) or WED/RLS, you may find yourself ...

  18. Clinical and echocardiographical study of the aortic homograft implantations in patients with Marfan syndrome

    Microsoft Academic Search

    Piotr Podolec; Wies?awa Tracz; Magdalena Kostkiewicz; Jerzy Sadowski; Marta Hlawaty; Maria Olszowska; Agata Le?niak; Janusz Andres; Grzegorz Marek; Roman Pfitzner; Antoni Dziatkowiak

    1997-01-01

    The aim of the study was to assess the long-term results of surgical treatment with homogenic aortic grafts (HAGs) implantation in patients with Marfan syndrome. There were 31 patients with Marfan syndrome and aortic aneurysm who were operated on between 1980 and 1996. Aortic dissection was diagnosed in 14 patients, DeBakey Type I in six patients and Type II in

  19. Craniofacial arteriovenous metameric syndrome (CAMS) 3--a transitional pattern between CAM 1 and 2 and spinal arteriovenous metameric syndromes.

    PubMed

    Wong, I Y C; Batista, L L; Alvarez, H; Lasjaunias, P L

    2003-09-01

    We report a rare case of craniofacial arteriovenous metameric syndrome (CAMS) 3 arteriovenous malformations of the mandible, left VIII nerve and petrous bone. The patient, a 19-year-old girl, presented with profuse gingival bleeding during a dental procedure and we diagnosed CAMS 3 during a pre-embolisation angiogram. The distribution of the vascular lesions suggests that CAMS 3 is intermediate CAMS 1 and 2 and spinal arteriovenous metameric syndrome (SAMS). PMID:12898077

  20. Psychosis in a Case of Kleine-Levin Syndrome: A Diagnostic Challenge

    PubMed Central

    Murthy, Vasantmeghna Srinivasa; Kelkar, Amol Deepak; Sonavane, Sushma Sanjiv

    2014-01-01

    Kleine-Levin syndrome (KLS) is a rare disorder of sleep diagnosed mainly on clinical grounds. It presents a unique diagnostic dilemma for neurologists and psychiatrists; especially due to a high risk of being diagnosed as a psychiatric condition like a mood disorder. However, there is literature available documenting the cooccurrence of psychiatric illnesses in patients diagnosed with KLS. The following case highlights the above points. PMID:24860224

  1. Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy.

    PubMed

    Park, Yeon-Hee; Choi, Jae-Woo; Jung, Sang-Ok; Cho, Min-Ji; Kang, Da-Hyun; Chung, Chae-Uk; Park, Dong-Il; Moon, Jae-Young; Park, Hee-Sun; Jung, Sung-Soo; Kim, Ju-Ock; Kim, Sun-Young; Lee, Jeong-Eun

    2015-07-01

    Malignant mesothelioma is a rare malignant neoplasm that arises from mesothelial surfaces of the pleural cavity, peritoneal cavity, tunica vaginalis, or pericardium. Typically, pleural fluid cytology or closed pleural biopsy, surgical intervention (video thoracoscopic biopsy or open thoracotomy) is conducted to obtain pleural tissue specimens. However, endobronchial lesions are rarely seen and cases diagnosed from bronchoscopic biopsy are also rarely reported. We reported the case of a 77-year-old male who was diagnosed as malignant mesothelioma on bronchoscopic biopsy from obstructing masses of the endobronchial lesion. PMID:26175790

  2. Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy

    PubMed Central

    Park, Yeon-Hee; Choi, Jae-Woo; Jung, Sang-Ok; Cho, Min-Ji; Kang, Da-Hyun; Chung, Chae-Uk; Park, Dong-Il; Moon, Jae-Young; Park, Hee-Sun; Jung, Sung-Soo; Kim, Ju-Ock; Kim, Sun-Young

    2015-01-01

    Malignant mesothelioma is a rare malignant neoplasm that arises from mesothelial surfaces of the pleural cavity, peritoneal cavity, tunica vaginalis, or pericardium. Typically, pleural fluid cytology or closed pleural biopsy, surgical intervention (video thoracoscopic biopsy or open thoracotomy) is conducted to obtain pleural tissue specimens. However, endobronchial lesions are rarely seen and cases diagnosed from bronchoscopic biopsy are also rarely reported. We reported the case of a 77-year-old male who was diagnosed as malignant mesothelioma on bronchoscopic biopsy from obstructing masses of the endobronchial lesion.

  3. Chronic fatigue syndrome: a follow up study.

    PubMed Central

    Bonner, D; Ron, M; Chalder, T; Butler, S; Wessely, S

    1994-01-01

    Forty-six of 47 patients diagnosed as having chronic fatigue and offered treatment four years previously were followed up. Twenty-nine patients were interviewed, three patients refused an interview, and information on the remaining 14 was obtained from their general practitioners. All the instruments used at interview had been used in the initial study. The long-term prognosis for patients with chronic fatigue syndrome who have initially responded to treatment is good. Spontaneous recovery in those who declined or who did not benefit from treatment is unlikely. Patients who continue to fulfil the criteria for chronic fatigue syndrome four years after they were initially diagnosed are likely to have had more somatic disorders, to have been more fatigued, and to have had a previous psychiatric history when they were initially assessed. PMID:8201336

  4. CP or not CP? A review of diagnoses in a cerebral palsy register.

    PubMed

    Zarrinkalam, Rosa; Russo, Remo N; Gibson, Catherine S; van Essen, Phillipa; Peek, Ann K; Haan, Eric A

    2010-03-01

    The purpose of this study was to document the inaccuracy rate of diagnosis of cerebral palsy recorded on the South Australian Cerebral Palsy Register. A total of 402 children born in South Australia from 1993 to 2002 and notified to the Register as having cerebral palsy were identified through the Register database, and 21 children (5.2%) were later identified to have a noncerebral palsy diagnosis. Of these, 5 had either a metabolic or a neurodegenerative disorder and 2 had a syndromic disorder (1 Joubert syndrome and 1 Sotos syndrome); the remaining 14 children had one of the following final diagnoses: developmental delay, gross motor delay, perinatal myositis, spinal subdural and subarachnoid arteriovenous malformation, and Erb's palsy. In 16 of 21 children (76%), the diagnosis was changed at 5 years of age or older. Studies based on population registers may need to take into account the possibility of misclassification, estimated to be at least 5.2% in this study. A complete clinical assessment at the time of diagnosis followed by regular reassessment would enable the clinician to exclude children with alternative diagnoses, which has important implications for clinical management and research based on cerebral palsy registers. PMID:20159426

  5. Marfan Syndrome

    MedlinePLUS

    ... that determine whether you have blue eyes or brown or whether you look like your mom or your dad. But sometimes genes can pass on some not-so-great things, too, like certain illnesses and diseases. In most cases, the gene change for Marfan syndrome runs in families, getting passed down to children ...

  6. Hypereosinophilic syndromes

    Microsoft Academic Search

    Florence E Roufosse; Michel Goldman; Elie Cogan

    2007-01-01

    Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109\\/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to

  7. Aicardi Syndrome

    MedlinePLUS

    ... seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is ... callosum ) that links the two halves of the brain (2) infantile spasms (a ...

  8. Exfoliation Syndrome

    Microsoft Academic Search

    Robert Ritch; Ursula Schlötzer-Schrehardt

    2001-01-01

    Exfoliation syndrome (XFS) is an age-related disease in which abnormal fibrillar extracellular material is produced and accumulates in many ocular tissues. Its ocular manifestations involve all of the structures of the anterior segment, as well as conjunctiva and orbital structures. Glaucoma occurs more commonly in eyes with XFS than in those without it; in fact, XFS has recently been recognized

  9. Wells syndrome

    PubMed Central

    Bansal, Manish; Rai, Tulika; Pandey, Shyam S.

    2012-01-01

    Wells syndrome or eosinophilic cellulitis is characterized clinically by an acute dermatitis resembling cellulitis and histopathologically by dermal eosinophilic infiltration. Various morphological presentations have been described. We report a 32-year-old female with recurrent, erythematous plaques on left forearm of 8 months duration, associated with mild itching that resolved leaving mild hyperpigmentation. PMID:23189251

  10. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  11. Rud's syndrome.

    PubMed

    Pavani, K; Reddy, B S N; Singh, B Amar

    2014-04-01

    Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755

  12. Rud's syndrome

    PubMed Central

    Pavani, K.; Reddy, B. S. N.; Singh, B. Amar

    2014-01-01

    Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755

  13. Proteus syndrome: what the anesthetist should know.

    PubMed

    Sethi, Divya

    2015-08-01

    Proteus syndrome (PS), a rare hamartomatous disorder, manifests itself in asymmetric and disproportionate overgrowth of multiple body tissues. Because of complexity of the disorder, the anesthetic problems encountered during patients' perioperative management are very varied. We discuss the case of a 14-year-old adolescent boy diagnosed with PS who underwent corrective osteotomy of right knee joint under subarachnoid block. The salient points the anesthetists need to be aware of while caring for patients with PS are highlighted. PMID:25921368

  14. Cowden's syndrome with Lhermitte-Duclos disease.

    PubMed

    Boonpipattanapong, T; Phuenpathom, N; Mitarnun, W

    2005-08-01

    Cowden's syndrome (CS) is a rare autosomal dominant condition featuring multiple hamartomas, often with mucocutaneous lesions, goitre, breast cancer, gastrointestinal polyps or even Lhermitte-Duclos disease (LDD). In this article we report the case of a 34-year-old man who was diagnosed with LDD. Subsequent examinations also revealed manifestations of CS, i.e. macrocephaly, thyroid nodules and gastrointestinal polyps. PMID:16455548

  15. Pharmacologic therapies for complex regional pain syndrome

    Microsoft Academic Search

    Sean Mackey; Steven Feinberg

    2007-01-01

    Complex regional pain syndrome (CRPS) remains a challenging condition to diagnose and treat. There are few large-scale, randomized\\u000a trials of pharmacologic agents, and most published studies are small, uncontrolled, or presented only in abstract form at\\u000a meetings. The most commonly used agents, such as anticonvulsants, antidepressants, and opiates, have been found to be useful\\u000a for other neuropathic pain conditions in

  16. Real-time ultrasound: Key factor in identifying celiac artery compression syndrome

    PubMed Central

    Tembey, Raina Anil; Bajaj, Aneeta S; Wagle, Prasad K; Ansari, Abdul Samad

    2015-01-01

    The median arcuate ligament syndrome (MALS) or celiac artery compression syndrome (CACS) is a rare entity, presenting clinically with postprandial abdominal pain and weight loss. The diagnosis is made on computed tomography (CT) angiography, which reveals extrinsic compression of the proximal part of the celiac artery by the median arcuate ligament, producing a characteristic hooked appearance. We report a case of the celiac artery compression syndrome, diagnosed by Doppler USG evaluation. PMID:25969647

  17. A randomized, placebo-controlled clinical trial on the efficacy of chiropractic therapy on premenstrual syndrome

    Microsoft Academic Search

    Maxwell J. Walsh; Barbara I. Polus

    1999-01-01

    Objective: To evaluate the efficacy of chiropractic therapy on the treatment of symptoms associated with premenstrual syndrome. Design: A prospective, randomized, placebo-controlled, crossover clinical trial. Setting: Multicenter private clinics. Subjects: Twenty-five subjects with diagnosed premenstrual syndrome (with a Moos premenstrual syndrome questionnaire plus daily symptom monitoring). Intervention: After randomization, 16 of the subjects received high-velocity, low-amplitude spinal manipulation plus soft

  18. [A child of malignant lymphoma diagnosed by transbronchial aspiration cytology under general anesthesia with a laryngeal mask].

    PubMed

    Sakurada, A; Saito, Y; Sagawa, M; Tsuchiya, S; Aikawa, H; Chen, Y; Endo, C; Sato, M; Takahashi, H; Usuda, K; Takahashi, S; Fujimura, S

    1997-07-01

    A 8-year-old male with Wiskott-Aldrich syndrome was admitted to our hospital because of left hilar swelling on a chest roentgeonogram. Bronchofiberscopy and transbronchial aspiration cytology (TBAC) was performed under general anesthesia with a laryngeal mask. The specimen obtained by TBAC was immediately stained and diagnosed as malignant lymphoma. One month later, thoracotomy was performed in order to get more detail diagnosis, which is necessary to determine the regimen of chemotherapy, and the nodal specimen were diagnosed as Hodgkin's disease. The ABVD therapy was performed which induced the complete remission. The laryngeal mask is a useful device for bronchofiberscopy in children. PMID:9223868

  19. Autism Spectrum Disorder Diagnoses in Stockholm Preschoolers

    ERIC Educational Resources Information Center

    Fernell, Elisabeth; Gillberg, Christopher

    2010-01-01

    The aims of this study were to estimate prevalence rates of children with autism spectrum disorder (ASD) diagnoses in a cohort of 6-year-old children with birth year 2002, referred to the Autism Centre for Young Children, serving the whole of Stockholm county and on the basis of the available data discuss clinical aspects of assessment,…

  20. Diagnosability Analysis using Quasi-Static Models

    Microsoft Academic Search

    F. Nejjari; R. Perez; T. Escobet

    2006-01-01

    Diagnosability of faults relies on adequate sensors to provide redundancy relations so that the discrepancies of predictions and observations can be detected. This paper describes a model-based fault detection and diagnosis approach for dynamic systems. The approach uses the state space representation of a quasi static model to analyze fault discriminability. The methodology allows the identification of the set of

  1. Updated Diagnoses and Evidence-based Treatments

    E-print Network

    Hofmann, Hans A.

    . It is a brain disease over which the individual has no control. It is causedUpdated Diagnoses and Evidence-based Treatments for Addiction Carlton Erickson, Ph by brain dysregulaon iniated by drug use. #12;The main symptom of chemical

  2. How Is Mitral Valve Prolapse Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Mitral Valve Prolapse Diagnosed? Mitral valve prolapse (MVP) most often is detected during a routine ... heart. Rate This Content: NEXT >> July 1, 2011 Mitral Valve Prolapse Clinical Trials Clinical trials are research studies that ...

  3. Eating Disorder Diagnoses: Empirical Approaches to Classification

    ERIC Educational Resources Information Center

    Wonderlich, Stephen A.; Joiner, Thomas E., Jr.; Keel, Pamela K.; Williamson, Donald A.; Crosby, Ross D.

    2007-01-01

    Decisions about the classification of eating disorders have significant scientific and clinical implications. The eating disorder diagnoses in the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) reflect the collective wisdom of experts in the field but are frequently not supported in…

  4. The diagnosis and consequences of Stickler syndrome.

    PubMed

    Webb, A C; Markus, A F

    2002-02-01

    The objective was to study the expressivity of Stickler syndrome in affected children and adults in the UK and to highlight issues for improving early diagnosis, treatment and counselling. A postal questionnaire survey of the 216 members of the Stickler Syndrome Support Group was carried out. Of the 153 (71%) who responded to the questionnaire, 48 (61%) of adults and 15 (20%) of children had experienced retinal detachment; 36 (49%) of the children and 18 (23%) of the adults were born with a cleft palate. Only 5 (7%) of the children and none of the adults had been diagnosed by a cleft surgeon, although 23 (31%) of the children had been diagnosed originally as having Pierre-Robin sequence. Only a third of the adults had been given any genetic counselling. Stickler syndrome is an under-diagnosed condition with profound consequences, particularly with respect to vision. Earlier diagnosis by the cleft team may help to reduce suffering and increase awareness of the condition. PMID:11883970

  5. Autoimmune Polyglandular Syndrome Type 1

    PubMed Central

    Ponranjini, Vedeswari C.; Jayachandran, S; Kayal, L; Bakyalakshmi, K

    2012-01-01

    Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible. PMID:23230544

  6. A Fast Test to Diagnose Flu

    SciTech Connect

    Hazi, A U

    2007-02-12

    People with flu-like symptoms who seek treatment at a medical clinic or hospital often must wait several hours before being examined, possibly exposing many people to an infectious virus. If a patient appears to need more than the routine fluids-and-rest prescription, effective diagnosis requires tests that must be sent to a laboratory. Hours or days may pass before results are available to the doctor, who in the meantime must make an educated guess about the patient's illness. The lengthy diagnostic process places a heavy burden on medical laboratories and can result in improper use of antibiotics or a costly hospital stay. A faster testing method may soon be available. An assay developed by a team of Livermore scientists can diagnose influenza and other respiratory viruses in about two hours once a sample has been taken. Unlike other systems that operate this quickly, the new device, called FluIDx (and pronounced ''fluidics''), can differentiate five types of respiratory viruses, including influenza. FluIDx can analyze samples at the point of patient care--in hospital emergency departments and clinics--allowing medical providers to quickly determine how best to treat a patient, saving time and potentially thousands of dollars per patient. The FluIDx project, which is led by Livermore chemist Mary McBride of the Physics and Advanced Technologies Directorate, received funding from the National Institute of Allergy and Infectious Diseases and the Laboratory Directed Research and Development (LDRD) Program. To test the system and make it as useful as possible, the team worked closely with the Emergency Department staff at the University of California (UC) at Davis Medical Center in Sacramento. Flu kills more than 35,000 people every year in the US. The 2003 outbreak of severe acute respiratory syndrome and the ongoing concern about a possible bird flu pandemic show the need for a fast, reliable test that can differentiate seasonal flu from a potentially pandemic influenza. Such a test should also discriminate influenza from pathogens that cause illnesses with flu-like symptoms. When a precise diagnosis is required to treat an adult patient with serious respiratory symptoms, sample cells are usually obtained with a nasal or throat swab and analyzed with one of several laboratory methods. The gold standard test is viral culturing, a highly sensitive method that can identify the specific strain of virus. However, viral culturing is a labor-intensive process and requires 3-10 days to produce results, too long for early intervention. Enzyme and optical immunoassays offer results in 30 minutes, but these methods are less sensitive than viral culturing so they can produce false positives or negatives. They also cannot distinguish the type of virus found. Direct immunofluorescence antibody (DFA) staining is as sensitive as viral culturing. It also can detect multiple respiratory pathogens simultaneously by a process known as multiplexing. However, DFA staining requires expensive equipment, a skilled microscopist, and samples with enough target cells for testing. In addition, the results are ultimately subjective. Another method, called reverse transcriptase-polymerase chain reaction assay, offers sensitivity and specificity comparable to viral culturing and DFA staining. It also produces results in two hours and can rapidly test a large number of samples. The drawback with these tests, however, is that they must be performed in a laboratory. None of them can be used where they are needed most: in the clinic or emergency department where patients are being treated. Livermore's FluIDx diagnostic system, with its instrumentation and multiplexed assays, is designed specifically for point-of-care diagnosis. The fast, easy-to-use system is based on the Autonomous Pathogen Detection System, a homeland security technology developed by LLNL. This R&D 100 Award-winning technology constantly monitors the air to detect airborne bioterrorism agents, such as anthrax. FluIDx is an integrated system designed to perform highly multiplexed poly

  7. Mismatch repair gone awry: Management of Lynch syndrome.

    PubMed

    Zhang, Tian; Boswell, Elizabeth L; McCall, Shannon J; Hsu, David S

    2015-03-01

    The hallmark of Lynch syndrome involves germline mutations of genes important in DNA mismatch repair. Affected family kindreds will have multiple associated malignancies, the most common of which is colorectal adenocarcinoma. Recently, evidence has shown that clinical diagnostic criteria provided by the Amsterdam Criteria and the Bethesda Guidelines must be linked with microsatellite instability testing to correctly diagnose Lynch syndrome. We present a case of metachronous colorectal adenocarcinomas in a patient less than 50 years of age, followed by a discussion of Lynch syndrome, with an emphasis on surveillance and prevention of malignancies. PMID:25459670

  8. Syndrome in question. MAGIC syndrome.

    PubMed

    Nascimento, Ana Cláudia Mendes do; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

    2014-01-01

    The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

  9. Commentary: The federal 'Prenatally and Postnatally Diagnosed Conditions Awareness Act'.

    PubMed

    Reilly, Philip R

    2009-09-01

    The recently enacted federal law, the 'Prenatally and Postnatally Diagnosed Conditions Awareness Act' (United States Public Law 110-374) seeks to improve opportunities for parents and pregnant women to anticipate and understand the likely life course of children born with Down syndrome and other (unspecified) conditions. The law is in part a response to the continued growth of prenatal screening and testing. For example, the American College of Obstetricians and Gynecologists' Practice Bulletin 77 recommends that 'Screening and invasive diagnostic testing for aneuploidies be available to all women who present for prenatal care before 20 weeks of gestation regardless of maternal age.' Emerging technologies anticipate an era in which the scope of prenatal screening and testing will be much larger than it is today. Inevitably, more women will find themselves facing the hard question of whether to continue or end a pregnancy in which a fetus has been found to have a significant abnormality. While the new federal law is not likely to have a major impact on obstetric practice, it may be a harbinger of renewed wide-scale public debate concerning the ethics of prenatal screening. PMID:19548258

  10. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  11. Parent Report of Community Psychiatric Comorbid Diagnoses in Autism Spectrum Disorders

    PubMed Central

    Rosenberg, Rebecca E.; Kaufmann, Walter E.; Law, J. Kiely; Law, Paul A.

    2011-01-01

    We used a national online registry to examine variation in cumulative prevalence of community diagnosis of psychiatric comorbidity in 4343 children with autism spectrum disorders (ASD). Adjusted multivariate logistic regression models compared influence of individual, family, and geographic factors on cumulative prevalence of parent-reported anxiety disorder, depression, bipolar disorder, and attention deficit/hyperactivity disorder or attention deficit disorder. Adjusted odds of community-assigned lifetime psychiatric comorbidity were significantly higher with each additional year of life, with increasing autism severity, and with Asperger syndrome and pervasive developmental disorder—not otherwise specified compared with autistic disorder. Overall, in this largest study of parent-reported community diagnoses of psychiatric comorbidity, gender, autistic regression, autism severity, and type of ASD all emerged as significant factors correlating with cumulative prevalence. These findings could suggest both underlying trends in actual comorbidity as well as variation in community interpretation and application of comorbid diagnoses in ASD. PMID:22937248

  12. Two Patients Diagnosed with Juvenile Myoclonic Epilepsy by First-Ever Status Epilepticus in Adult Life

    PubMed Central

    Jeong, Hye Seon; Moon, Jeong Soo; Oh, Eung Seok; Kim, Jae Moon

    2011-01-01

    Juvenile myoclonic epilepsy (JME) is an idiopathic, age-related generalized epileptic syndrome. Status epilepticus (SE) in JME is very rare, and little is known about its etiology. We report 2 cases of adult patients, retrospectively diagnosed as JME by non convulsive status epilepticus which occurred for the first time. One patient was a 52-year-old woman who was presented with confusion and brief generalized tonic-clonic seizure (GTCS) for the first time. The other patient, a 39 year-old woman, visited the ER with transient LOC following confused mental state. Electroencephalograms of both patients repetitively showed generalized polyspikes and slow waves which were disappeared after IV injection of lorazepam. With careful history taking, both of them the patients were diagnosed as JME, and the seizures stopped just after sodium valproate medication. NCSE in patients with JME is rare but detailed history taking and suspicion of the disorder is helpful for diagnosis. PMID:24649443

  13. Prevalence of dual diagnoses of mental and substance abuse disorders in general hospitals.

    PubMed

    Kiesler, C A; Simpkins, C G; Morton, T L

    1991-04-01

    Data from a 1980 discharge survey of general hospitals were analyzed to determine the prevalence of cases with coexisting diagnoses of mental and substance abuse disorders. Twelve percent of total cases (or 208,000 episodes) had dual diagnoses, a proportion similar to that found in another analysis of 1985 data. Of these cases, 55.5 percent had a primary diagnosis of an alcohol or drug disorder, most commonly alcohol- or drug-induced organic brain syndrome. Thirty-four percent of cases with a primary diagnosis of mental disorder had depressive neurosis, 24 percent had psychosis, and 19 percent had personality disorder. An additional 18.9 percent of all cases had two or more mental or substance abuse disorders. Dual-diagnosis cases had a shorter mean hospital stay than cases with mental disorder only. PMID:1904835

  14. Return of the milk curd syndrome.

    PubMed

    Flikweert, E R; La Hei, E R; De Rijke, Y B; Van de Ven, K

    2003-11-01

    Five extremely low birth weight (ELBW) infants were treated in our institution for the milk curd syndrome, a milk bolus intestinal obstruction. The medical records of the five patients, who all underwent surgery, were retrospectively reviewed. History and examination are usually sufficient to diagnose the milk curd syndrome in ELBW infants. Confirmation with an abdominal X-ray may be possible but the X-ray findings may be mistaken for localised necrotising enterocolitis (NEC). Contrast enemas in an attempt to shift the bolus obstruction may be dangerous, and have a low success rate. Enterotomy and removal of the bolus is a safe and effective treatment if the diagnosis is early, otherwise resection with or without diverting ileostomy may be necessary. It appears that after years of disappearance, the milk curd syndrome has again become a clinical entity. It is probably due to a combination of high calcium and fat intake in an ever increasing population of ELBW infants. PMID:14600769

  15. Miliary tuberculosis and adult respiratory distress syndrome.

    PubMed

    Piqueras, A R; Marruecos, L; Artigas, A; Rodriguez, C

    1987-01-01

    Although, miliary tuberculosis is an unusual cause of severe acute respiratory failure, we describe nine patients with miliary tuberculosis who developed adult respiratory distress syndrome. This complication occurred in seven patients despite treatment with antituberculous drugs. In two patients who developed the syndrome, miliary tuberculosis was diagnosed only at postmortem. The presence of pulmonary hypertension in all cases and disseminated intravascular coagulation in seven cases suggests a possible pathophysiologic relationship with severe pulmonary vascular damage. The high mortality rate (88.8%) was associated with nonpulmonary organ system failure. Miliary tuberculosis should be considered in patients with adult respiratory distress syndrome of unknown etiology, and simple diagnostic procedures such as sputum, bronchial brushing, and gastric examination should be followed by invasive diagnostic procedures to confirm this etiology. Since untreated miliary tuberculosis is usually fatal, early recognition of this disease is of great importance, and specific therapy may play a lifesaving role. PMID:3584648

  16. Kounis syndrome: report of 5 cases.

    PubMed

    Gázquez, V; Dalmau, G; Gaig, P; Gómez, C; Navarro, S; Mercé, J

    2010-01-01

    Kounis syndrome has been defined as an acute coronary syndrome that manifests as unstable vasospastic or nonvasospastic angina, and even as acute myocardial infarction. It is triggered by the release of inflammatory mediators following an allergic insult. We report 5 patients attended at our hospital between January 2005 and May 2008 who were diagnosed with unstable angina or acute myocardial infarction-according to analytical parameters, electrocardiographic abnormalities, and/or coronary angiography--in the context of an anaphylactic episode. Age at the time of the episode, age ranged between 50 and 68 years. The results of an allergology study revealed the causal agents to be drugs in 4 cases (nonsteroidal anti-inflammatory drugs and omeprazole) and food in 1 case (kiwi). Coronary disease of a blood vessel was observed in 2 patients. Serious allergic reactions may be the cause of acute coronary syndrome in patients with healthy or altered coronary arteries and no cardiovascular risk factors. PMID:20461972

  17. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  18. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

    Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

  19. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...

  20. Dental Issues & Down Syndrome

    MedlinePLUS

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  1. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  2. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry? . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  3. What Is Marfan Syndrome?

    MedlinePLUS

    ... Syndrome PDF Version Size: 62 KB Audio Version Time: 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to-Read Series of Publications for the Public Marfan syndrome is ...

  4. Polycystic Ovary Syndrome

    MedlinePLUS

    ... Another condition that is associated with PCOS is metabolic syndrome . This syndrome contributes to both diabetes and heart ... the levels of glucose (sugar) in the blood. Metabolic Syndrome: Combination of factors that contribute to both diabetes ...

  5. Metabolic Syndrome (For Parents)

    MedlinePLUS

    ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ... chemicals in the body fail to interact properly), metabolic syndrome describes a cluster of risk factors that put ...

  6. Fragile X Syndrome

    MedlinePLUS

    ... Was Just Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  7. Fragile X Syndrome Overview

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Fragile X syndrome? Fragile X syndrome is a genetic disorder that ...

  8. Carpal Tunnel Syndrome

    MedlinePLUS

    ... key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median ... or traumatized. What are the symptoms of carpal tunnel syndrome? Symptoms usually start gradually, with frequent burning, ...

  9. A Lacrimal Sump Syndrome With a Large Intranasal Ostium.

    PubMed

    Qian, Zhenbin; Tu, Yunhai; Xiao, Tianlin; Wu, Wencan

    2015-07-01

    Lacrimal sump syndrome is an uncommon cause of failed dacryocystorhinostomy. Small osteotomy was reported as the major cause of this syndrome. Here, the authors described the first case of a lacrimal sump syndrome with a large intranasal ostium following endoscopic endonasal dacryocystorhinostomy (EE-DCR). A 51-year-old women patient suffered recurrence of epiphora and dacryocystitis for 8 months following an EE-DCR. Examination showed a large intranasal ostium with a lot of purulent discharge and patent lacrimal irrigation. Lacrimal sump syndrome was diagnosed after passing a probe into the residual lacrimal sac under the aid of an endoscope. The residual sac was reopened and merogel was packed around the wound. The clinical symptoms disappeared after the surgery. It is indicated that lacrimal sump syndrome does happen not only in a small intranasal ostium, but also in a large intranasal ostium. Existing residual sac with bacterial infection may be related to this particular case. PMID:26091055

  10. Clinical profile of a male with Rett syndrome.

    PubMed

    Budden, Sarojini S; Dorsey, Heather C; Steiner, Robert D

    2005-11-01

    We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he underwent comprehensive neurological, metabolic and genetic investigations. After his older sister was diagnosed with atypical Rett syndrome; MECP2 mutation studies on him revealed a pathogenic mutation. His mother is a Rett carrier with a skewed inactivation of chromosome X. Clinical signs and symptoms required to meet the criteria for diagnosis of Rett syndrome have gradually evolved over time. This case demonstrates an unusual family history for Rett syndrome and alerts readers to the utility of screening males for Rett syndrome. PMID:16182490

  11. Kallmann syndrome

    Microsoft Academic Search

    Catherine Dodé; Jean-Pierre Hardelin; J-P Hardelin

    2009-01-01

    The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations

  12. Hepatorenal syndrome.

    PubMed

    Turban, Sharon; Thuluvath, Paul J; Atta, Mohamed G

    2007-08-14

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review. PMID:17696221

  13. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

    Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599

  14. Antisynthetase syndrome

    Microsoft Academic Search

    Agathe Imbert-Masseau; Mohamed Hamidou; Christian Agard; Jean-Yves Grolleau; Pascal Chérin

    2003-01-01

    Seven autoantibodies directed against synthetases have been identified to date, the best known being anti-Jo1. Synthetases play a vital role in protein synthesis by catalyzing the acetylation of transfer RNAs (tRNAs). The most common form of antisynthetase syndrome is characterized by anti-Jo1 production, interstitial lung disease (ILD), inflammatory muscle disease, and, in many cases, fever, polyarthritis, Raynaud’s phenomenon, and thick

  15. Masquerade Syndromes

    Microsoft Academic Search

    Shouvik Saha; Elizabeth M. Graham

    The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis [1]. Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an

  16. Maffucci Syndrome

    Microsoft Academic Search

    Leida B. Rozeman; Yvonne M. Schrage; Judith V. M. G. Bovée; Pancras C. W. Hogendoorn

    Maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with\\u000a multiple haemangiomas and\\/or lymphangiomas, as described by (1881). Both lesions tend to have an unilateral predominance (Albregts and Rapini 1995). Enchondromas are benign cartilaginous neoplasms and occur mainly in the tubular bones of hands and feet. Their presence\\u000a in long bones can result in

  17. Learning about Fragile X Syndrome

    MedlinePLUS

    ... genetic terms used on this page. Learning About Fragile X Syndrome What is fragile X syndrome? What are the ... Additional Resources for Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common form ...

  18. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  19. Heterotaxy Syndrome

    PubMed Central

    2011-01-01

    Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. This broad term includes patients with a wide variety of very complex cardiac lesions. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages and heterotaxy with isomerism of the left atrial appendages. Treatment of patients with isomerism is determined by the nature and severity of the associated cardiac and extracardiac lesions. Most cardiac operations for patients with isomerism are palliative in nature, since normal anatomy is rarely achieved and mortality rates remain high for patients with heterotaxy syndrome. Patients with left isomerism in general have less severe cardiac malformations than those with right isomerism and, hence, more chance of biventricular repair. For almost all patients with right isomerism, and for many with left isomerism, biventricular repair will not be feasible, and all palliative protocols are then staging procedures prior to a Fontan-type repair. Recent advances in medical management, and improvements in surgical techniques have resulted in improved survival for these patients, and the surgical outcomes are comparable to those with Fontan circulation irrespective of the presence or absence of heterotaxy. PMID:21731561

  20. Asperger syndrome in adolescent and young adult males. Interview, self - and parent assessment of social, emotional, and cognitive problems

    Microsoft Academic Search

    Mats Cederlund; Bibbi Hagberg; Christopher Gillberg

    2010-01-01

    Descriptive and comparative follow-up studies of young adult males with Asperger syndrome (AS) diagnosed in childhood, using both interview, self- and parent assessment instruments for the study of aspects of emotional well-being, social functioning, and cognitive-practical skills have not been performed in the past. One-hundred males with AS diagnosed in childhood were approached for the assessment using the Asperger Syndrome