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Genetics Home Reference: Smith-Lemli-Opitz syndrome  


... 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 ...


Smith-Lemli-Opitz Syndrome  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation/intellectual disability syndrome, with clinical characteristics encompassing a wide spectrum and great variability. Elucidation of the biochemical and molecular genetic basis for the autosomal recessively inherited SLOS, specifically, understanding SLOS as a cholesterol deficiency syndrome caused by mutations in DHCR7, opened up enormous possibilities for therapeutic intervention. When cholesterol was discovered to be the activator of sonic hedgehog, cholesterol deficiency with inactivation of this developmental patterning gene was thought to be the cause of SLOS malformations, yet this explanation is overly simplistic. Still, despite these important research breakthroughs, there is no proven treatment for SLOS. Better animal models are needed to allow potential treatment testing and the study of disease pathophysiology, which is incompletely understood. Creation of human cellular models will surely be useful, especially models of brain cells. In vivo human studies are essential as well. There have only been limited natural history studies of SLOS to date. Biomarker development will be critical in facilitating clinical trials in this rare condition, since clinical phenotype may change over many years. Additional research in these and other areas is critical if we are to make headway towards ameloriating the effects of this devastating condition.

DeBarber, Andrea E.; Eroglu, Yasemen; Merkens, Louise S.; Pappu, Anuradha S.; Steiner, Robert D.



Recent insights into the Smith-Lemli-Opitz syndrome  

PubMed Central

The Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation disorder caused by an inborn error of post-squalene cholesterol biosynthesis. Deficient cholesterol synthesis in SLOS is caused by inherited mutations of 3?-hydroxysterol-?7 reductase gene (DHCR7). DHCR7 deficiency impairs both cholesterol and desmosterol production, resulting in elevated 7DHC/8DHC levels, typically decreased cholesterol levels and, importantly, developmental dysmorphology. The discovery of SLOS has led to new questions regarding the role of the cholesterol biosynthesis pathway in human development. To date, a total of 121 different mutations have been identified in over 250 patients with SLOS who represent a continuum of clinical severity. Two genetic mouse models have been generated which recapitulate some of the developmental abnormalities of SLOS and have been useful in elucidating the pathogenesis. This mini review summarizes the recent insights into SLOS genetics, pathophysiology and potential therapeutic approaches for the treatment of SLOS.

Yu, H; Patel, SB



A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome.  


This work was aimed to implement a fast and simple method to quantify cholesterol (CHOL) and 7-dehydrocholesterol (7-DHC) in dried blood spot (DBS) to diagnose the Smith-Lemli-Opitz syndrome (SLOS), an inborn error of CHOL biosynthesis. We developed and validated a GC-FID method for separation and quantification of underivatized CHOL and 7-DHC using a DBS disc of 6mm with a run time of 9 min. Correlation coefficients (r) of calibration curves ranged from 0.998 to 0.999 for CHOL and from 0.997 to 0.998 for 7-DHC. Within-day and between-day imprecision (CV%), accuracy (%), carry-over, and extraction efficacy (%) were also evaluated for validation. CHOL and 7-DHC were analyzed in DBS and plasma samples from 8 SLOS patients and 30 unaffected subjects. In SLOS patients, 7-DHC/CHOL ratios in DBS and plasma samples ranged from 0.035 to 1.448 and from 0.012 to 0.926, respectively. Results from calibration curves, quality controls and patient samples reveal that the method is suitable to analyze DBS to screen patients affected by SLOS. PMID:22985726

Gelzo, Monica; Clericuzio, Stefano; Barone, Rosalba; D'Apolito, Oceania; Dello Russo, Antonio; Corso, Gaetano



Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome  

SciTech Connect

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.

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:



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

PubMed Central

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, 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.

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



Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?  


Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder in which an error in cholesterol biosynthesis results in congenital anomalies/mental deficits. The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300 - 1:3,937). This prompted us to carry out a 3-year (2006-2008) national surveillance program in which about 2,000 physicians were asked to identify potential SLOS patients pre- and postnatally based on clinical identification forms. The incidence of SLOS in Poland was estimated to be from 1:60,941 to 1:105,395 (1: 83,168 ± 22,227) live births, and its 3-year prevalence 1:866,273 ± 16,242. The mean carrier frequency was calculated to be from 1:123 to 1:165. The notable discrepancy between our previous carrier newborn screening and these prospective data may result from reduced fertility in SLOS carriers, intrauterine death of affected fetuses, or underdiagnosis in postnatal life. Since we did not notice significant data supporting the first two aspects, our study may support the suggestion that screening for the most frequent DHCR7 alleles does not reflect the true disease rates in the Polish population. Hence, further studies in which maternal urinary steroids (7-dehydroestriol/estriol and 8-dehydropregnanetriol/pregnanetriol ratios) would serve as screening markers in early pregnancies may be justified. PMID:20556518

Jezela-Stanek, Aleksandra; Ciara, El?bieta; Ma?unowicz, Ewa; Chrzanowska, Krystyna; Latos-Biele?ska, Anna; Krajewska-Walasek, Ma?gorzata



Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome  

Microsoft Academic Search

The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient D 7 -dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic path- way, resulting in low cholesterol and high concentrations of its direct precursors 7-dehydrocholesterol (7DHC) and 8DHC. We hypothesized that i ) 7DHC and 8DHC accumula- tion contributes to the poor outcome of SLOS patients and ii ) blood

Petr E. Jira; Ron A. Wevers; Jan de Jong; Estela Rubio-Gozalbo; Fokje S. M. Janssen-Zijlstra; Arno F. J. van Heyst; Rob C. A. Sengers; Jan A. M. Smeitink


The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome  

Microsoft Academic Search

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine the prevalence of autism spectrum disorders (ASDs) in children with SLOS. Fourteen children, 3-16 years old, were evaluated using three different methods to

Darryn M. Sikora; Kersti Pettit-Kekel; Jennifer Penfield; Louise S. Merkens; Robert D. Steiner



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

Microsoft Academic Search

\\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

Alka Aneja; Elaine Tierney


Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome  

Microsoft Academic Search

Summary We investigated the enzyme defects in two inherited disorders of cholesterol biosynthesis: sitosterolaemia and the Smith-Lemli-Opitz syndrome. In sitosterolaemic homozygotes, plasma plant sterols (sitosterol and campesterol) concentrations are elevated because of enhanced intestinal absorption and diminished removal. Underlying these changes is very low cholesterol biosynthesis to provide extra sterol for cell growth. Extremely reduced activities of HMG-CoA reductase, the

G. Salen; S. Shefer; A. K. Batta; G. S. Tint; G. Xu; A. Honda



Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.  

PubMed Central

Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and multiple congenital anomalies. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway-that is, the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. We identified a partial transcript coding for human 7-dehydrocholesterol reductase by searching the database of expressed sequence tags with the amino acid sequence for the Arabidopsis thaliana sterol Delta7-reductase and isolated the remaining 5' sequence by the "rapid amplification of cDNA ends" method, or 5'-RACE. The cDNA has an open reading frame of 1,425 bp coding for a polypeptide of 475 amino acids with a calculated molecular weight of 54.5 kD. Heterologous expression of the cDNA in the yeast Saccharomyces cerevisiae confirmed that it codes for 7-dehydrocholesterol reductase. Chromosomal mapping experiments localized the gene to chromosome 11q13. Sequence analysis of fibroblast 7-dehydrocholesterol reductase cDNA from three patients with Smith-Lemli-Opitz syndrome revealed distinct mutations, including a 134-bp insertion and three different point mutations, each of which was heterozygous in cDNA from the respective parents. Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase.

Waterham, H R; Wijburg, F A; Hennekam, R C; Vreken, P; Poll-The, B T; Dorland, L; Duran, M; Jira, P E; Smeitink, J A; Wevers, R A; Wanders, R J



Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.  

PubMed Central

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism. Images

Merrer, M L; Briard, M L; Girard, S; Mulliez, N; Moraine, C; Imbert, M C



Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome  

Microsoft Academic Search

Objectives: To determine whether type I and the more severe type II variant of Smith-Lemli-Opitz syndrome have the same metabolic defect and to learn which plasma sterol measurements best predict survival. Methods: Plasma sterols were measured in 33 individuals (24 type I, 9 type II) with a clinical diagnosis of the syndrome. Results: Cholesterol levels were abnormally low (61 ±

G. S. Tint; Gerald Salen; Ashok K. Batta; Sarah Shefer; Mira Irons; Ellen Roy Elias; Dianne N. Abuelo; Virginia P. Johnson; Marie Lambert; Richard Lutz; Carolyn Schanen; Colleen A. Morris; George Hoganson; Rhiannon Hughes-Benzie



Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.  


Screening for Smith-Lemli-Opitz Syndrome (SLOS) using elevated 7-dehydrocholesterol (7DHC) as a marker is sensitive, but not always specific. Elevations of 7DHC can be seen in patients who do not have a defect in 7-dehydrocholesterol reductase. These results have often been attributed to medication artifacts, but specific causes have not been well reported. We examined the medical records of patients with elevated 7DHC to determine if they had been diagnosed with SLOS; and if they had not, to identify any common medications that may have caused the elevations. We found three individuals who were affected with SLOS, and 22 with elevated 7DHC in the absence of SLOS. Seven of these individuals underwent molecular testing which showed no mutations, while the other 15 were excluded based on clinical findings and other testing. The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results. PMID:23628460

Hall, Patricia; Michels, Virginia; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Tortorelli, Silvia



Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.  


Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol reductase, resulting in an increased concentrations of 7-dehydrocholesterol and 8-dehydrocholesterol in body fluids and tissues. Phenotypically it is characterized by wide range of abnormalities, from mild to lethal forms what causes difficulties in its clinical diagnostics. To further delineate the physical spectrum of the mild form of Smith-Lemli-Opitz syndrome, especially with regard to genotype-phenotype correlation, we describe 5 Polish patients with mild phenotype (one with novel mutation in DHCR7 gene and four published before) and analyze 18 other cases from the literature. As the conclusion we give recommendation for tests toward SLOS in cases with "idiopathic" intellectual impairment and/or behavioral anomalies, as well as in biochemically doubtful but clinically fitting cases with overall gestalt and history of this syndrome. PMID:18249054

Jezela-Stanek, A; Ciara, E; Malunowicz, E M; Korniszewski, L; Piekutowska-Abramczuk, D; Popowska, E; Krajewska-Walasek, M



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

Microsoft Academic Search

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,

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



Discordant Clinical Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz Syndrome  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase gene (DHCR7). During de novo cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7-dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is confirmed biochemically by the presence of elevated levels of 7-dehydrocholesterol. Phenotypic severity of SLOS has previously been shown to correlate with the 7DHC/cholesterol ratio. In this case report, we describe a patient with a severe SLOS phenotype, but a very low serum 7DHC/cholesterol ratio. We further demonstrate that this discordance is due to alternative splicing of a previously unreported IVS5+3 A>T mutation. This mutation results in the transcription of both normal and mutant mRNA transcripts. We postulate that alternative splicing of the IVS5+3 A>T results in insufficient DHCR7 activity during embryogenesis, but sufficient DHCR7 activity once cholesterol synthetic rates decrease postnatally. This case is a unique observation that underscores the adjunctive use of fibroblast and molecular testing in ambiguous cases of SLOS and may provide insight into the potential efficacy of therapeutic interventions altering postnatal cholesterol biosynthesis.

Koo, Grace; Conley, Sandra K.; Wassif, Christopher A.; Porter, Forbes D.



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


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 (d(7)-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

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



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

SciTech Connect

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.

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



Plasma Plant Sterols Do Not Reflect Cholesterol Absorption in Smith-Lemli-Opitz Syndrome Children  

PubMed Central

Objective In adults, the ratio of plant sterols to cholesterol in plasma correlates with dietary cholesterol absorption. We hypothesized that this correlation could be validated in children with Smith Lemli-Opitz syndrome (SLOS), a cholesterol synthesis disorder. Study design We obtained measurements of cholesterol absorption by a direct radioisotope cholesterol absorption method during 9 SLOS subject visits. We measured plasma sterols in 22 SLOS subjects and 16 controls, as well as dietary intake of cholesterol and sitosterol (n=11 SLOS). Results The correlations of 2 plasma plant sterol ratios (sitosterol/cholesterol and campesterol/cholesterol) with direct cholesterol absorption measurement were poor (R= ?0.33 and R= ?0.25, respectively), significantly lower than the published correlation in adults (R=+0.73) (P<0.02). Conclusions Although the ratios of plant sterols to cholesterol in plasma has been used as a surrogate for cholesterol absorption in adults and children, these ratios may not accurately reflect cholesterol absorption in children with SLOS. These ratios should not be used as a surrogate for cholesterol absorption in children without further validation.

Merkens, Louise S.; Jordan, Julia M.; Penfield, Jennifer A.; Lutjohann, Dieter; Connor, William E.; Steiner, Robert D.



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


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

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



Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.  


Deficient cholesterol and/or excessive 7-dehydrocholesterol (7-DHC) may be responsible for the pathology of Smith-Lemli-Opitz syndrome (SLOS). Both high-cholesterol diets given to ameliorate cholesterol deficiency while decreasing 7-DHC and cholesterol-enriched diets plus simvastatin to further decrease sterol synthesis have been used as potential therapies. However, the effect of dietary cholesterol and simvastatin on cholesterol synthesis in SLOS has not been reported. Twelve subjects with SLOS enrolled in the study: Nine had received a high cholesterol diet (HI) for 3 y and three were studied after 4 wk on a low cholesterol diet (LO). Cholesterol fractional synthesis rate (FSR) was measured after oral administration of deuterium oxide, using gas chromatography isotope ratio mass spectrometry. FSR was lower in HI compared with LO (HI: 1.46 +/- 0.62%/d; LO: 4.77 +/- 0.95%/d; p < 0.001). Three HI subjects were retested after 0.8 y taking simvastatin (HI + ST). Simvastatin tended to reduce FSR and significantly decreased (p < 0.01) plasma 7-DHC compared with cholesterol supplementation alone. The study demonstrates the utility of the deuterium incorporation method to understand the effect of therapeutic interventions in SLOS. The data suggest that dietary cholesterol supplementation reduces cholesterol synthesis in SLOS and further support the rationale for the combined treatment of SLOS with a cholesterol-enriched diet and simvastatin. PMID:19430384

Chan, Yen-Ming; Merkens, Louise S; Connor, William E; Roullet, Jean-Baptiste; Penfield, Jennifer A; Jordan, Julia M; Steiner, Robert D; Jones, Peter J H



Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse  

PubMed Central

The Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic defect in cholesterol biosynthesis; mutations in the enzyme 3ß-hydroxysterol ?7 reductase (Dhcr7) lead to a failure of cholesterol (and desmosterol) synthesis, with an accumulation of precursor sterols, such as 7-dehydrocholesterol. Extensive genotype–phenotype analyses have indicated that there is considerable variation in the severity of the disease, much of which is not explained by defects in the Dhcr7 gene alone. Factors ranging from variations in maternal–fetal cholesterol transfer during pregnancy, to other genetic factors have been proposed to account for this variability. Variations at the APOE locus affect plasma cholesterol levels in humans and this polymorphic gene has been found to be associated with cardiovascular as well as neurological disorders. This locus has recently been implicated in accounting for some of the variations in SLOS. To address whether maternal hypercholesterolemia can affect fetal outcome, we tested the ability of maternal hypercholesterolemia to rescue the neonatal lethality in a mouse model of SLOS. Maternal hypercholesterolemia, induced by ApoE or Ldl-r deficiency not only failed to ameliorate the postnatal lethality, it increased the prenatal mortality of Dhcr7 deficient pups. Thus the murine data suggest that maternal loss of ApoE or Ldl-r function further exacerbates the neonatal lethality, suggesting they may play a role in maternal transfer of cholesterol to the embryo.

Solca, Curzio; Pandit, Bhaswati; Yu, Hongwei; Tint, G. Stephen; Patel, Shailendra B.



Brain magnetic resonance imaging findings in smith-lemli-opitz syndrome.  


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 (27 M, 28 F) 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. © 2013 Wiley Periodicals, Inc. PMID:23918729

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



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

PubMed Central

Summary Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic deficiency in 7-dehydrocholesterol (7-DHC) reductase (EC, 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.

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



Circonstances cliniques du diagnostic du syndrome de Smith-Lemli-Opitz et tentatives de corrélation phénotype-génotype : à propos de 45 cas  

Microsoft Academic Search

Introduction. – SLO (Smith-Lemli-Opitz) syndrome is an autosomal recessive multiple congenital malformations syndrome, including mental retardation, failure to thrive, craniofacial abnormalities, incomplete development of male genitalia, limb anomalies and various internal organ abnormalities. This syndrome is caused by a deficiency of cholesterol biosynthesis at the distal step of 7–dehydrocholesterol reductase (7DHCR).Patients and methods. – We have reviewed 45 cases of

A Goldenberg; F Chevy; C Bernard; C Wolf; V Cormier-Daire



Ultraviolet A sensitivity in Smith–Lemli–Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3?-ol  

Microsoft Academic Search

Smith–Lemli–Opitz syndrome (SLOS) is a severe developmental disorder caused by mutations in the DHCR7 gene coding for 7-dehydrocholesterol (7-DHC) reductase, the enzyme involved in the last step of cholesterol biosynthesis. SLOS homozygotes exhibit marked deficiency of cholesterol in plasma and tissues with concomitant increase in 7-DHC. Ultraviolet A (UVA) photosensitivity has been recognized as part of SLOS with maximal response

Colin F. Chignell; Barbara M. Kukielczak; Robert H. Sik; Piotr J. Bilski; Yu-Ying He



Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of ?7-sterol reductase in Italy and report of three novel mutations  

Microsoft Academic Search

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human ?7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we

D De Brasi; T Esposito; M Rossi; G Parenti; MP Sperandeo; A Zuppaldi; T Bardaro; MA Ambruzzi; L Zelante; A Ciccodicola; G Sebastio; M D'Urso; G Andria



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

Microsoft Academic Search

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

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



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

PubMed Central

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.

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



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

PubMed Central

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.

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



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


Smith-Lemli-Opitz syndrome (SLOS) is an inherited autosomal recessive cholesterol deficiency disorder. Our studies have shown that in SLOS children, urinary mevalonate 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 diversion of mevalonate to nonsterol isoprenoid synthesis. To test our hypothesis, we measured urinary dolichol and ubiquinone, two nonsterol isoprenoids, in 16 children with SLOS and 15 controls, all fed a low-cholesterol diet. The urinary excretion of both dolichol (P < 0.002) and ubiquinone (P < 0.02) in SLOS children was 7-fold higher than in control children, whereas mevalonate excretion was comparable. In a subset of 12 SLOS children, a high-cholesterol diet decreased urinary mevalonate excretion by 61% (P < 0.001), dolichol by 70% (P < 0.001), and ubiquinone by 67% (P < 0.03). Our hypothesis that in SLOS children, normal urinary mevalonate excretion results from increased diversion of mevalonate into the production of nonsterol isoprenoids is supported. Dietary cholesterol supplementation reduced urinary mevalonate and nonsterol isoprenoid excretion but did not change the relative ratios of their excretion. Therefore, in SLOS, a secondary peripheral regulation of isoprenoid synthesis may be stimulated. PMID:16983147

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



DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.  


Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Thirty-seven ethnic Polish patients with SLOS underwent mutation analysis. The mutation frequencies in Polish patients were significantly different from those observed in Western European populations. Two mutations, W151X (22/68 alleles, 32%) and V326L (19/68 alleles, 28%), accounted for 60% of all observed in our cohort. Two missense mutations L68P and L360P have not been reported previously. In total, we report 15 DHCR7 mutations identified in Polish patients. By comparing clinical severity scores and the biochemical and molecular data, a genotype-phenotype correlation was attempted. In compound heterozygotes with one null mutation, the phenotype severity depends on the localization and type of the second mutation: mild phenotypes are correlated with mutations affecting the putative transmembrane domains TM1-TM6 or CT regions and severe phenotypes with mutations localized in TM7 and 4L region. The phenotypic differences of patients with the same genotype suggest that severity of the disease may be affected by other factors. PMID:15521979

Ciara, E; Nowaczyk, M J M; Witsch-Baumgartner, M; Malunowicz, E; Popowska, E; Jezela-Stanek, A; Piotrowicz, M; Waye, J S; Utermann, G; Krajewska-Walasek, M



Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome)  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency in the terminal step of cholesterol biosynthesis, which is catalyzed by 7-dehydrocholesterol reductase (DHCR7). The disorder exhibits several phenotypic traits including dysmorphia and mental retardation with a broad range of severity. Pathogenesis of SLOS is complex due to multiple roles of cholesterol and may be further complicated by unknown effects of aberrant metabolites that arise when 7-dehydrocholesterol (7-DHC), the substrate for DHCR7, accumulates. A viable mouse model for SLOS has recently been developed, and here we characterize cholesterol metabolism in this model with emphasis on changes during the first few weeks of postnatal development. Cholesterol and 7-DHC were measured in “SLOS” mice and compared with measurements in normal mice. SLOS mice had measurable levels of 7-DHC at all ages tested (up to one year), while 7-DHC was below the threshold for detection in normal mice. In perinatal to weaning age SLOS mice, cholesterol and 7-DHC levels changed dramatically. Changes in brain and liver were independent; in brain cholesterol increased several fold while 7-DHC remained relatively constant, but in liver cholesterol first increased then decreased again while 7-DHC first decreased then increased. In older SLOS animals the ratio of 7-DHC/cholesterol, which is an index of biochemical severity, tended to approach, but not reach, normal. While these mice provide the best available genetic animal model for the study of SLOS pathogenesis and treatment, they probably will be most useful at early ages when the metabolic effects of the mutations are most dramatic. To correlate any experimental treatment with improved sterol metabolism will require age-matched controls. Finally, determining the mechanism by which these “SLOS” mice tend to normalize may provide insight into the future development of therapy.

Marcos, Josep; Shackleton, Cedric H.L.; Buddhikot, Madhavee M.; Porter, Forbes D.; Watson, Gordon L.



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

PubMed Central

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.

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



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

SciTech Connect

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.

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



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

SciTech Connect

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.

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)



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


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 reductase, 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 very low cholesterol diet, mean mevalonate excretion did not differ between controls and SLOS children, indicating that SLOS subjects have normal HMG-CoA reductase activity. In a short term feeding study, the effects of a high cholesterol diet in SLOS subjects include a significant 55% increase in plasma cholesterol levels and 39% decrease in mevalonate excretion and no change in plasma 7-DHC levels. However, in four SLOS subjects, fed a high cholesterol diet for 2-3 years, plasma cholesterol levels continued to increase, urinary mevalonate excretion remained low and total 7-DHC decreased significantly, likely from decreased total sterol synthesis. Thus, in SLOS subjects, HMG-CoA reductase activity was normal and was subject to normal cholesterol induced feedback inhibition. However, total sterol synthesis in SLOS may still be decreased because of increased diversion of mevalonate into the shunt pathway away from sterol synthesis. PMID:12364550

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



Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome[S  

PubMed Central

Treatment of Sprague-Dawley rats with AY9944, an inhibitor of 3?-hydroxysterol-?7-reductase (Dhcr7), leads to elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in all biological tissues, mimicking the key biochemical hallmark of Smith-Lemli-Opitz syndrome (SLOS). Fourteen 7-DHC-derived oxysterols previously have been identified as products of free radical oxidation in vitro; one of these oxysterols, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), was recently identified in Dhcr7-deficient cells and in brain tissues of Dhcr7-null mouse. We report here the isolation and characterization of three novel 7-DHC-derived oxysterols (4?- and 4?-hydroxy-7-DHC and 24-hydroxy-7-DHC) in addition to DHCEO and 7-ketocholesterol (7-kChol) from the brain tissues of AY9944-treated rats. The identities of these five oxysterols were elucidated by HPLC-ultraviolet (UV), HPLC-MS, and 1D- and 2D-NMR. Quantification of 4?- and 4?-hydroxy-7-DHC, DHCEO, and 7-kChol in rat brain, liver, and serum were carried out by HPLC-MS using d7-DHCEO as an internal standard. With the exception of 7-kChol, these oxysterols were present only in tissues of AY9944-treated, but not control rats, and 7-kChol levels were markedly (>10-fold) higher in treated versus control rats. These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the pathogenesis of SLOS.—.

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



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


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

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



Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.  


Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testing. Diagnostic studies included DHCR7 mutation analysis in chorionic villus samples, amniotic fluid sterol analysis and serial measurements of oestriol (E3), pregnanetriol (PT), 7-dehydropregnanetriol (7DHPT) and 8-dehydroesteriol (8DHE3) concentrations in maternal urine samples obtained between 9 and 20 weeks of gestation. All tests were diagnostic and revealed nine unaffected foetuses (two normal homozygotes and seven DHCR7 heterozygotes) and one affected foetus. In the affected pregnancy, 7DHC and 8DHC in amniotic fluid were 9.87 and 3.7 microg/ml, respectively [reference range (RR) 0.0026 +/- 0.0015 microg/ml and not detectable, respectively] and maternal urinary steroid analyses showed increased ratios of 7DHPT/PT and 8DHE3/E3 of 0.74 and 1.7, respectively (RR 0-0.0147 and 0-0.019). In the heterozygous foetuses, 7DHPT/PT and 8DHE3/E3 ratios did not exceed those found in 48 normal controls. This is the first series of prenatal diagnostic testing for SLOS where non-invasive biochemical testing was performed in tandem with invasive diagnostic testing. We conclude that steroid measurements in maternal urine are a reliable means of prenatal diagnosis for SLOS. PMID:16451140

Jezela-Stanek, A; Ma?unowicz, E M; Ciara, E; Popowska, E; Goryluk-Kozakiewicz, B; Spodar, K; Czerwiecka, M; Jezuita, J; Nowaczyk, M J M; Krajewska-Walasek, M



Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.  


Smith-Lemli-Opitz syndrome/RSH (SLOS) is a multiple congenital anomaly syndrome caused by mutations in the gene for Delta7-sterol reductase (DHCR7) which catalyses the last step in the biosynthesis of cholesterol. SLOS is among the common recessive disorders in Europeans but almost absent in most other populations. More than 40 mutations in the DHCR7 gene some of which are frequent have been described in SLOS patients of various origins. Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22). Altogether 35 different mutations were identified and the two null mutations IVS8-1G > C and W151X were the most frequent in the total sample. In all three populations three mutations accounted for >0.5 of SLOS chromosomes. The mutational spectra were, however, significantly different across these populations with each of the common mutations showing an east-west gradient (W151X, V326L) or vice versa (IVS8-1G > C). W151X is the most frequent (0.33) mutation in Polish SLOS patients. It has an intermediate frequency in German/Austrian patients (0.18) and is rare among British patients (0.02). V326L shows the same distribution pattern (Poland 0.23, Germany/Austria 0.18, Britain 0.02). In contrast IVS8-1G > C is most frequent in Britain (0.34) intermediate in Germany/Austria (0.20) and rare in Poland (0.03). All analysed IVS8-1G > C and V326L alleles shared the same DHCR7 haplotype, whereas the W151X mutation occurred on different haplotypes. There is evidence for both recurrent mutations and founder effects. Together this suggests that the common SLOS mutations in Europe have different geographic and historic origins and spread across the continent in opposite directions. PMID:11175299

Witsch-Baumgartner, M; Ciara, E; Löffler, J; Menzel, H J; Seedorf, U; Burn, J; Gillessen-Kaesbach, G; Hoffmann, G F; Fitzky, B U; Mundy, H; Clayton, P; Kelley, R I; Krajewska-Walasek, M; Utermann, G



Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.  


We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 +/- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint. PMID:12717589

Rakheja, Dinesh; Wilson, Golder N; Rogers, Beverly B



Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.  

PubMed Central

We investigated the enzyme defect in late cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome, a recessively inherited developmental disorder characterized by facial dysmorphism, mental retardation, and multiple organ congenital anomalies. Reduced plasma and tissue cholesterol with increased 7-dehydrocholesterol concentrations are biochemical features diagnostic of the inherited enzyme defect. Using isotope incorporation assays, we measured the transformation of the precursors, [3 alpha- 3H]lathosterol and [1,2-3H]7-dehydrocholesterol into cholesterol by liver microsomes from seven controls and four Smith-Lemli-Opitz homozygous subjects. The introduction of the double bond in lathosterol at C-5[6] to form 7-dehydrocholesterol that is catalyzed by lathosterol-5-dehydrogenase was equally rapid in controls and homozygotes liver microsomes (120 +/- 8 vs 100 +/- 7 pmol/mg protein per min, P = NS). In distinction, the reduction of the double bond at C-7 [8] in 7-dehydrocholesterol to yield cholesterol catalyzed by 7-dehydrocholesterol-delta 7-reductase was nine times greater in controls than homozygotes microsomes (365 +/- 23 vs 40 +/- 4 pmol/mg protein per min, P < 0.0001). These results demonstrate that the pathway of lathosterol to cholesterol in human liver includes 7-dehydrocholesterol as a key intermediate. In Smith-Lemli-Opitz homozygotes, the transformation of 7-dehydrocholesterol to cholesterol by hepatic microsomes was blocked although 7-dehydrocholesterol was produced abundantly from lathosterol. Thus, lathosterol 5-dehydrogenase is equally active which indicates that homozygotes liver microsomes are viable. Accordingly, microsomal 7-dehydrocholesterol-delta 7-reductase is inherited abnormally in Smith-Lemli-Opitz homozygotes.

Shefer, S; Salen, G; Batta, A K; Honda, A; Tint, G S; Irons, M; Elias, E R; Chen, T C; Holick, M F



Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.  


Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes. PMID:9742573

Lalatta, F; Salmona, S; Fogliani, R; Rizzuti, T; Nicolini, U



Abnormal cholesterol biosynthesis as in Smith-Lemliopitz syndrome disrupts normal skeletal development in the rat  

Microsoft Academic Search

Smith-Lemli-Opitz syndrome (SLOS) in human infants is a common autosomal recessive malformation syndrome (estimated incidence, 1:20,000). It is characterized clinically by congenital anomalies, especially craniofacial and limb defects, and biochemically by a defect in 7-dehydrocholesterol-?7-reductase activity (7DHC- reductase), the final enzyme in cholesterol biosynthesis. In previous studies, early administration of the 7DHC-reductase inhibitor AY9944 to pregnant rats resulted in a

Martine Kolf-Clauw; Francoise Chevy; Claire Ponsart



Syndrome identification based on 2D analysis software.  


Clinical evaluation of children with developmental delay continues to present a challenge to the clinicians. In many cases, the face provides important information to diagnose a condition. However, database support with respect to facial traits is limited at present. Computer-based analyses of 2D and 3D representations of faces have been developed, but it is unclear how well a larger number of conditions can be handled by such systems. We have therefore analysed 2D pictures of patients each being affected with one of 10 syndromes (fragile X syndrome; Cornelia de Lange syndrome; Williams-Beuren syndrome; Prader-Willi syndrome; Mucopolysaccharidosis type III; Cri-du-chat syndrome; Smith-Lemli-Opitz syndrome; Sotos syndrome; Microdeletion 22q11.2; Noonan syndrome). We can show that a classification accuracy of >75% can be achieved for a computer-based diagnosis among the 10 syndromes, which is about the same accuracy achieved for five syndromes in a previous study. Pairwise discrimination of syndromes ranges from 80 to 99%. Furthermore, we can demonstrate that the criteria used by the computer decisions match clinical observations in many cases. These findings indicate that computer-based picture analysis might be a helpful addition to existing database systems, which are meant to assist in syndrome diagnosis, especially as data acquisition is straightforward and involves off-the-shelf digital camera equipment. PMID:16773127

Boehringer, Stefan; Vollmar, Tobias; Tasse, Christiane; Wurtz, Rolf P; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar



Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.  


Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with "pseudo"-autosomal dominant transmission showing incomplete penetrance and variable expressivity. Clinical suspicion of HPE is typically based upon compatible craniofacial findings, the presence of developmental delay or seizures, or specific endocrinological abnormalities, and is then followed up by confirmation with brain imaging. Once a clinical diagnosis is made, a thorough genetic evaluation is necessary. This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3). In this review, we provide current step-by-step recommendations that are medically indicated for the genetic evaluation of patients with newly diagnosed HPE. Moreover, we provide a brief review of several available methods used in molecular diagnostics of HPE and describe the advantages and limitations of both currently available and future tests as they relate to high throughput screening, cost, and the results that they may provide. PMID:20104604

Pineda-Alvarez, Daniel E; Dubourg, Christèle; David, Véronique; Roessler, Erich; Muenke, Maximilian



ldentif ication of 8-de hydroc holesterol (c holesta-5,8-d ien30 -01) i n patients with S m it h- Lem I i-0 p i t z syndrome  

Microsoft Academic Search

Cholesta-5,8-dien-3fl-o1 (8-dehydrocholesterol) and cholesta-5,7-dien-3~-ol(7-dehydrocholesterol) were isolated from the fecal neutral sterol fraction from homozygotes with Smith- Lemli-Opitz syndrome. The structures of the sterols were con- clusively established from their mass spectra and 1H and *3C nuclear magnetic resonance spectra. It is probable that 8-dehydro- cholesterol arises from 7-dehydrocholesterol and is not a direct precursor of cholesterol.-Batta, A. K., G. S.

Ashok K. Batta; G. Stephen Tint; Sarah Shefer; Dianne Abuelo; Gerald Salen


Rare Diseases Clinical Research Network  


... ACC) Adenocarcinoma salivary duct carcinoma (AC) [ go to web site ] [ Study Information ] [+] STAIR: Sterol and Isoprenoid Research Consortium Smith-Lemli-Opitz Syndrome Sjögren-Larsson Syndrome Niemann-Pick ...


Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report  

PubMed Central

Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.



Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome.

Porter, Forbes D.; Herman, Gail E.



Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.  


Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e., nonsyndromic) HSCR, in conjunction with other autosomal susceptibility loci under a multiplicative model. HSCR susceptibility alleles can harbor either heterozygous coding sequence mutations or, more frequently, a polymorphism within intron 1, leading to a hypomorphic RET allele. On the other hand, about 30% of HSCR are syndromic. Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (CCHS), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), cartilage-hair-hypoplasia (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and hydrocephalus due to congenital stenosis of the aqueduct of sylvius (HSAS). According to the HSCR syndrome, the penetrance of HSCR trait varies from 5 to 70%. Trisomy 21 (T21) also predisposes to HSCR. We were able to collect a series of 393 patients affected by CCHS (n = 173), WS4 (n = 24), BBS (n = 51), MWS (n = 71), T21 (n = 46), and mental retardation (MR) with HSCR (n = 28). For each syndrome, we studied the RET locus in two subgroups of patients; i.e., with or without HSCR. We genotyped the RET locus in 393 patients among whom 195 had HSCR, and compared the distribution of alleles and genotypes within the two groups for each syndrome. RET acts as a modifier gene for the HSCR phenotype in patients with CCHS, BBS, and Down syndrome, but not in patients with MWS and WS4. The frequent, low penetrant, predisposing allele of the RET gene can be regarded as a risk factor for the HSCR phenotype in CCHS, BBS, and Down syndrome, while its role is not significant in MWS and WS4. These data highlight the pivotal role of the RET gene in both isolated and syndromic HSCR. PMID:17397038

de Pontual, L; Pelet, A; Clement-Ziza, M; Trochet, D; Antonarakis, S E; Attie-Bitach, T; Beales, P L; Blouin, J-L; Dastot-Le Moal, F; Dollfus, H; Goossens, M; Katsanis, N; Touraine, R; Feingold, J; Munnich, A; Lyonnet, S; Amiel, J



[Hirschsprung-Galant infantilism].  


Report about a 17 1/2 year-old girl with severe mental retardation, dwarfism, hypogenitalism and short segment type of HIRSCHSPRUNG's disease, abortive SMITH-LEMLI-OPITZ syndrome is supposed. Literature about etiology and genetics of HIRSCHSPRUNG's disease is reviewed. PMID:2067874

Fehlow, P; Walther, F



Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS)  


... FAQ: Non-U.S. Visitors to Yosemite Outbreak of Hantavirus Infection in Yosemite National Park As of November ... Favorites Delicious Digg Google Bookmarks Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS) Diagnosing HPS Diagnosing HPS in ...


Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency  

Microsoft Academic Search

Lathosterol 5-desaturase catalyzes the conversion of lathosterol to 7-dehydrocholesterol in the next to last step of cholesterol synthesis. Inborn errors of cholesterol synthesis underlie a group of human malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndrome, CDPX2 and lathosterolosis. We disrupted the lathosterol 5-desaturase gene (Sc5d ) in order to further our understanding of the pathophysiological processes underlying these disorders

Patrycja A. Krakowiak; Christopher A. Wassif; Lisa Kratz; Diana Cozma; Martina Kovarova ´; Ginny Harris; Alexander Grinberg; Yinzi Yang; Alasdair G. W. Hunter; Maria Tsokos; Richard I. Kelley; Forbes D. Porter




Microsoft Academic Search

Smith-Lemli-Opitz syndrome (SLOS) is a heredi- tary disorder in which a defective gene encoding 7-dehydro- cholesterol reductase causes the accumulation of noncho- lesterol sterols, such as 7- and 8-dehydrocholesterol. Using rigorous analytical methods in conjunction with a large collection of authentic standards, we unequivocally identi- fied numerous noncholesterol sterols in 6 normal and 17 SLOS blood samples. Plasma or erythrocytes

Benfang Ruan; William K. Wilson; Jihai Pang; Nicolas Gerst; Frederick D. Pinkerton; James Tsai; Richard I. Kelley; Frank G. Whitby; Dianna M. Milewicz; James Garbern; George J. Schroepfer


232. Gene Therapy for Deficient Cholesterol Synthesis in a Mouse Model of SLOS  

Microsoft Academic Search

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder, characterized by dysmorphology and mental retardation. It is a relatively high frequency inherited disease (1:20,000-1:40,000). The cause is a relative inactivity of 7-dehydrocholesterol-?7 -reductase (DHCR7), the terminal enzyme in cholesterol (C) synthesis. Affected individuals have low levels of C in blood and tissues and an accumulation of 7-dehydrocholesterol (7-DHC) and its isomer

Madhavee Buddhikot; Josep Marcos; Dorothy Tabron; Forbes Porter; Cedric Shackleton; Gordon Watson



Diagnosing the tight building syndrome.  

PubMed Central

Formaldehyde is but one of many chemicals capable of causing the tight building syndrome or environmentally induced illness (EI). The spectrum of symptoms it may induce includes attacks of headache, flushing, laryngitis, dizziness, nausea, extreme weakness, arthralgia, unwarranted depression, dysphonia, exhaustion, inability to think clearly, arrhythmia or muscle spasms. The nonspecificity of such symptoms can baffle physicians from many specialties. Presented herein is a simple office method for demonstrating that formaldehyde is among the etiologic agents triggering these symptoms. The very symptoms that patients complain of can be provoked within minutes, and subsequently abolished, with an intradermal injection of the appropriate strength of formaldehyde. This injection aids in convincing the patient of the cause of the symptoms so he can initiate measures to bring his disease under control.

Rogers, S A



How Do Health Care Providers Diagnose Turner Syndrome?  


... and Publications How do health care providers diagnose Turner syndrome? Page Content Health care providers use a combination ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...


How Do Health Care Providers Diagnose Cushing's Syndrome?  


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


Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.  

PubMed Central

A male child with multiple congenital anomalies initially was clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS). Subsequent cytogenetic studies revealed an interstitial deletion of 17p11.2, which is associated with Smith-Magenis syndrome (SMS). Biochemical studies were not supportive of a diagnosis of SLOS, and the child did not display the typical SMS phenotype. The father's karyotype showed a paracentric inversion of 17p, with breakpoints in p11.2 and p13.3, and the same inversion was also found in two of the father's sisters. FISH analyses of the deleted and inverted 17p chromosomes indicated that the deletion was similar to that typically seen in SMS patients and was found to bracket the proximal inversion breakpoint. Available family members were genotyped at 33 polymorphic DNA loci in 17p. These studies determined that the deletion was of paternal origin and that the inversion was of grandpaternal origin. Haplotype analysis demonstrated that the 17p11.2 deletion arose following a recombination event involving the father's normal and inverted chromosome 17 homologues. A mechanism is proposed to explain the simultaneous deletion and apparent "reinversion" of the recombinant paternal chromosome. These findings have implications for prenatal counseling of carriers of paracentric inversions, who typically are considered to bear minimal reproductive risk. Images Figure 1 Figure 2 Figure 3

Yang, S P; Bidichandani, S I; Figuera, L E; Juyal, R C; Saxon, P J; Baldini, A; Patel, P I



How Do Health Care Providers Diagnose Rett Syndrome?  


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


How Do Health Care Providers Diagnose Asperger Syndrome?  


... Information Clinical Trials Resources and Publications How do health care providers diagnose Asperger syndrome? Page Content If you ... concerns about your child's development, talk the child's health care provider right away. The provider can examine the ...


How Do Health Care Providers Diagnose Klinefelter Syndrome?  


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


How Do Health Care Providers Diagnose Prader-Willi Syndrome?  


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


Schnitzler syndrome: an under-diagnosed clinical entity  

PubMed Central

Schnitzler syndrome is considered to be a rare disorder characterized by a monoclonal IgM protein and chronic urticaria that is associated with considerable morbidity. We hypothesized that the syndrome may be under-recognized and patients may be deprived of highly effective therapy in the form of anakinra. We performed a retrospective search of the dysproteinemia database at Mayo Clinic as well as the medical records of all patients with chronic urticaria to determine the true incidence of the disease. We compared patients with the diagnosis of Schnitzler syndrome and those who met the criteria but in whom the syndrome was not recognized. Comparisons between groups were performed and survival curves determined. We identified 16 patients with diagnosed Schnitzler syndrome and an additional 46 patients who met diagnostic criteria. The monoclonal protein was IgM? in 94% of patients. Therapy with anakinra in 4 patients led to rapid and complete resolution of symptoms. The median overall survival for this syndrome is over 12.8 years. Progression to lymphoma was only observed in 8% of patients; this is lower than previous reports. Schnitzler syndrome may be present in up to 1.5% of patients with a monoclonal IgM in their serum and likely under-recognized as a clinical syndrome.

Jain, Tania; Offord, Chetan P.; Kyle, Robert A.; Dingli, David



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).  


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

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



Ambiguous genitalia: what prenatal genetic testing is practical?  


Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield. PMID:22581420

Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett



Specific genetic disorders and autism: clinical contribution towards their identification.  


Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies. Regarding psychiatric nosography, the concept of "syndromal autism"--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation. PMID:15796126

Cohen, David; Pichard, Nadège; Tordjman, Sylvie; Baumann, Clarisse; Burglen, Lydie; Excoffier, Elsa; Lazar, Gabriela; Mazet, Philippe; Pinquier, Clément; Verloes, Alain; Héron, Delphine



Screening, Diagnosing and Prevention of Fetal Alcohol Syndrome: Is This Syndrome Treatable?  

Microsoft Academic Search

Prenatal alcohol exposure can lead to a wide range of adverse effects on a developing fetus. As a whole, these teratogenic outcomes are generally known as fetal alcohol spectrum disorders, the most severe of which is fetal alcohol syndrome (FAS). Clinically, children diagnosed with FAS vary greatly in their presentation of symptoms, likely due to the amount of alcohol and

Sahar Ismail; Stephanie Buckley; Ross Budacki; Ahmad Jabbar; G. Ian Gallicano



[A case of malignant psoas syndrome diagnosed while treating sciatica].  


While attempting to treat a 71-year-old male patient who had been diagnosed with sciatica from spinal canal stenosis, we discovered his prior cancer metastasizing to the psoas. We initially administered epidural block to him after confirming his prior rectal cancer had not metastasized to lumbar vertebral bones, but the block did not satisfactorily alleviate his pain, and he had difficulty stretching his lower limbs. CT scan to re-examine the cause revealed a metastasized cancer in the psoas. From this experience, we believe malignant psoas syndrome should be considered in addition to metastasis to lumbar vertebral bones, when evaluating lower back to lower limb pain in patients with previous cancer history. PMID:23905413

Komatsu, Shuji; Iseki, Masako; Morita, Yoshihito; Inada, Eiichi



Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.  


In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients. PMID:23509885

Cardoso, Ml; Barbosa, M; Serra, D; Martins, E; Fortuna, A; Reis-Lima, M; Bandeira, A; Balreira, A; Marques, F



Reliability of clinical assessment in diagnosing cauda equina syndrome.  


Cauda equina syndrome (CES) is a neurological syndrome presenting with non-specific symptoms and signs that often leads to diagnostic confusion and delay. Acute onset CES is a surgical emergency. The common aetiology is a prolapsed lumbar disc. If the diagnosis is missed, it can have devastating consequences for the patient and a high financial cost to healthcare providers. The objective of this study was to evaluate the efficacy of clinical assessment in clinching the diagnosis. Eighty patients who underwent urgent clinical assessment and magnetic resonance imaging (MRI) for suspected CES over a 1-year period (from January 1st 2008 to 31 December 2008) were included in the study. Fifteen of these patients had a CES and underwent urgent lumbar discectomy and decompression. Medical notes and MRI scans of all these patients were reviewed. The presenting symptoms and signs were analysed against a positive MRI scan. Chi-square test with Yates correction was used to test association of each clinical symptom and sign for a positive MRI. In this study, only 18.8% of assessed patients had a CES producing compression seen on the MRI. Presence of saddle sensory deficit was the only clinical feature with a statistically significant association with MRI positive CES (p = 0.03). This series shows that saddle sensory deficit has a higher predictive value than other clinical features in diagnosing a CES. However, as there is no symptom or sign which has an absolute predictive value in establishing the diagnosis of CES, any patient in whom a reasonable suspicion of CES arises must undergo urgent MRI to exclude this diagnosis. PMID:20726746

Balasubramanian, Karthikeyan; Kalsi, Pratipal; Greenough, Charles G; Kuskoor Seetharam, Manjunath Prasad



Behavioral Approaches to Training Developmentally Disabled Children for an Overnight EEG Procedure  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome associated with multiple congenital malformations, mental retardation, and autism spectrum behaviors. This clinical protocol was part of a larger study investigating the effects of a cholesterol-lowering medication for SLOS patients. Behavioral therapists were consulted to facilitate participants’ cooperation with an overnight electroencephalogram (EEG). Seventeen children participated in one 1-hour training session of a mock EEG. Behavioral methods included task analysis, differential reinforcement, and escape extinction. Descriptive data reveal low cognitive and adaptive functioning. Fifty three percent of children tolerated all steps of the training procedure and 88% of participants tolerated all of the actual EEG procedure. Behavioral methods of training children may be an effective preparation for EEG procedures for children with SLOS. This study indicates that sedation, anesthesia, or restraints are not necessary to accomplish EEG testing of children with SLOS. Results may generalize to children with a range of disabilities.

Cataldo, Marilyn; Tierney, Elaine; Slifer, Keith



[Moebius syndrome with facial-dental impairments - rare or rather seldom diagnosed syndrome?].  


As publications on craniofacial anomalies, malocclusions and dental complications recognised in patients suffering from Moebius syndrome are scarce, the authors of this paper decided to discuss the above aspects in broader terms along with the possibilities offered by orthodontic treatment. The etiology of Moebius syndrome has not hitherto been discovered, however the opinion prevails that it is brought on by multiple factors and conditions. In the analysed case, Moebius syndrome was diagnosed only when the patient was 6 years old. Based on the clinical examination, typical characteristics of the syndrome were observed: craniofacial dysmorphism as well as foot development disorder in the form of talipes equinovarus (club foot). Moreover, Type II Angle's classification of malocclusion was detected - crowded teeth in the mandible and maxilla and hypoplastic enamel. Cephalometric analysis identified retruded position of the mandible against the cranial base, protruded position of the maxilla, shortening of posterior face height, protrusion of incisors in the maxilla. The orthopantomogram showed the presence of all permanent teeth. At the beginning of the orthodontic treatment removable appliances were used, but despite good cooperation on the part of the patient, only a slight improvement was observed. Further orthodontic treatment envisaged extraction of permanent teeth and use of fixed appliances while waiting for the improvement of occlusion. PMID:23378405

Cudzi?o, Dorota; Ob?oj, Barbara; Obersztyn, Ewa; Bocian, Ewa; Matthews-Brzozowska, Teresa


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


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


How Do Health Care Providers Diagnose Fragile X Syndrome?  


... provider can perform developmental screening to determine the nature of delays in a child. If a health care provider suspects the child has Fragile X syndrome, he/she can refer parents to a clinical geneticist, who can perform a genetic test for Fragile X syndrome. 2 National Fragile ...


Motor Abilities of Children Diagnosed with Fragile X Syndrome with and without Autism  

ERIC Educational Resources Information Center

|Background: Previous studies suggested that children diagnosed with fragile X syndrome (FXS) often meet criteria for autism or PDD. This study describes the fine motor abilities of children diagnosed with FXS with and without autism spectrum disorder, and compares the motor scores of those groups controlling for cognitive level. Method:…

Zingerevich, C.; Greiss-Hess, L.; Lemons-Chitwood, K.; Harris, S. W.; Hessl, D.; Cook, K.; Hagerman, Randi J.



Ascertainment Bias in Turner Syndrome: New Insights From Girls Who Were Diagnosed Incidentally in Prenatal Life  

Microsoft Academic Search

ABSTRACT. Objective. To evaluate differences in phenotype and other clinical features between patients who have Turner syndrome diagnosed incidentally (on the basis of a prenatal karyotype performed for reasons unrelated to suspicion of Turner syndrome, eg, advanced maternal age) or traditionally (on the basis of either a prenatal karyotype performed for abnormal ultrasound findings or a postnatal karyotype performed for

Daniel F. Gunther; Erica Eugster; Anthony J. Zagar; Constance G. Bryant; Marsha L. Davenport; Charmian A. Quigley


Diagnoses, Syndromes, and Diseases: A Knowledge Representation Problem  

PubMed Central

Despite their widespread use, the terms “syndrome”, “disease” and “diagnosis” are sometimes utilized improperly and ambiguously, compounding the complexities of medical knowledge representation. The definitions and illustrative examples provided here will be useful for developers of diagnostic expert systems.

Calvo, Franz; Karras, Bryant T; Phillips, Richard; Kimball, Ann Marie; Wolf, Fred



Screening, diagnosing and prevention of fetal alcohol syndrome: is this syndrome treatable?  


Prenatal alcohol exposure can lead to a wide range of adverse effects on a developing fetus. As a whole, these teratogenic outcomes are generally known as fetal alcohol spectrum disorders, the most severe of which is fetal alcohol syndrome (FAS). Clinically, children diagnosed with FAS vary greatly in their presentation of symptoms, likely due to the amount of alcohol and timing of exposure, as well as maternal and genetic influences. All these factors play a role in determining the mechanisms through which alcohol damages a developing brain, the details of which are still largely unknown. However, continuing research and recent developments have provided promising results that may lead to screening mechanisms and treatment therapies for children with FAS. Here we review the teratogenic effects of alcohol, strategies for detecting maternal alcohol consumption, identification of fetal biological markers, and prevention methods for FAS. PMID:20551645

Ismail, Sahar; Buckley, Stephanie; Budacki, Ross; Jabbar, Ahmad; Gallicano, G Ian



Diagnosing Alzheimer's dementia in Down syndrome: Problems and possible solutions  

Microsoft Academic Search

It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and methodological procedures used in the field and the difficulty in

Ruth E. Nieuwenhuis-Mark



Diagnosing Alzheimer's Dementia in Down Syndrome: Problems and Possible Solutions  

ERIC Educational Resources Information Center

|It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and…

Nieuwenhuis-Mark, Ruth E.



Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses  

ERIC Educational Resources Information Center

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…

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



Psychiatric Diagnoses and Psychotropic Medications in CHARGE Syndrome: A Pediatric Survey  

Microsoft Academic Search

Many children diagnosed with CHARGE syndrome demonstrate behavioral difficulties in addition to visual, hearing and other\\u000a systemic impairments. Previous research has reported that children with CHARGE have increased rates of self-injury and aggression,\\u000a as well as increased frequency of obsessive compulsive and autism spectrum disorders. This study asked parents to report not\\u000a only the diagnoses given for their child’s behavior

Lee E. Wachtel; Timothy S. Hartshorne; A. Nichole Dailor



Echokardiographische Diagnose einer partiellen Lungenvenenfehleinmündung bei 2 Patientinnen mit Ullrich-Turner-Syndrom  

Microsoft Academic Search

Zusammenfassung Wir berichten über zwei Patientinnen mit Ullrich-Turner-Syndrom bei denen mit Hilfe der Farbdopplersonographie eine partielle Lungenvenenfehleinmündung diagnostiziert wurde. In der Literatur wurde die Kombination einer Fehleinmündung von einer oder mehreren Lungenvenen und einem Ullrich-Turner-Syndrom mehrfach beschrieben. Bei den bisher publizierten Fallberichten wurde die Diagnose jedoch angiographisch im Rahmen einer Herzkatheteruntersuchung gestellt, die wegen zusätzlich vorliegender kardiovaskulärer Fehlbildungen durchgeführt wurde.

A. Koch; M. Hofbeck; H. G. Dörr; H. Singer



Compartment syndrome diagnosed in due time by breakthrough pain despite continuous peripheral nerve block.  


We here present a paediatric case with development of acute compartment syndrome in the lower leg secondary to a tibial shaft fracture. The patient was diagnosed in time because of breakthrough pain, despite a well-functioning continuous peripheral nerve block with ropivacaine infusion. Compartment syndrome is a potentially devastating complication to trauma, typically fractures of the tibial shaft and the forearm because of the relatively tight facias and small volume of these compartments. PMID:24020485

Munk-Andersen, H; Laustrup, T K



Thrombocytopenia is not mandatory to diagnose haemolytic and uremic syndrome  

PubMed Central

Background Hemolytic and uremic syndrome (HUS) diagnosis involves association of non immune hemolytic anemia, thrombocytopenia, and renal failure. HUS without thrombocytopenia has been observed, we call it partial HUS. Its real frequency and outcome are unknown. The aim of this study was to determine the prevalence of patients with normal platelets count in two HUS cohorts and to compare their outcome to patients with thrombocytopenia. Methods We retrospectively identified HUS diagnosis in two different cohorts. The first cohort was from a single center and consisted of all cases of HUS whatever the aetiology, the second was multicentric and consisted of atypical HUS patients. These cohorts were divided into two groups depending on the presence or absence of thrombocytopenia. Clinical and biological data were compared between thrombopenic and non thrombopenic group. Results We identified 13% (20/150) of patients with normal platelets count: 10 episodes (18%) of HUS in six patients (14%) in the monocentric cohort and 14 patients (13%) with 17 episodes (12%) in the multicentric cohort of atypical HUS. Groups differed in platelets count and LDH level. In both cohorts, renal outcome was similar to patient presenting with thrombocytopenia. Conclusion HUS with normal platelets count is not infrequent. Relative to classical clinical presentation of HUS, partial HUS has similar characteristics and identical poor renal outcome and so must be treated in the same way.



Diagnostic Drawing Series: Research with Older People Diagnosed with Organic Mental Syndromes and Disorders.  

ERIC Educational Resources Information Center

|Used standardized three-picture art interview, Diagnostic Drawing Series (DDS), with older people. Collected artwork from 24 patients diagnosed with Organic Mental Syndromes and Disorders (OMS/D). Structural qualities found in art were identified using DDS. Observations of these qualities may aid in early diagnosis of OMS/D and help educate…

Couch, Janet Beaujon



Difficulties diagnosing the multiple personality syndrome in a death penalty case  

Microsoft Academic Search

The problems involved in diagnosing the multiple personality syndrome in a rape-murder suspect are illustrated by the case of Kenneth Bianchi and the Hillside Stranglings. Hypnotic investigations of his amnesia revealed “Steve,” who admitted guilt for the rape-murders. “Billy” later emerged, claiming responsibility for thefts and forgeries. Attempts to evaluate Kenneth Bianchi with methods used in therapy yielded an original

Ralph B. Allison



Self-Determination among Community College Students Diagnosed with Asperger's Syndrome: A Qualitative Study  

ERIC Educational Resources Information Center

|This qualitative research study investigated the self-determination of community college students diagnosed with Asperger's syndrome (AS). Varying levels of self-determination were displayed within each of the five participants. However, despite the unique characteristics and experiences of the participants, five major and two minor themes…

Szentmiklosi, Jillian M.



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

ERIC Educational Resources Information Center

|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…

Holdnack, James; Goldstein, Gerald; Drozdick, Lisa



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

Microsoft Academic Search

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

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



Acute Respiratory Distress Syndrome Caused by Mycoplasma Pneumoniae Diagnosed by Polymerase Chain Reaction  

PubMed Central

Mycoplasma pneumoniae (M. pneumoniae) is a common pathogen in cases of atypical pneumonia. Most individuals with Mycoplasma pneumonia run a benign course, with non-specific symptoms of malaise, fever and non-productive cough that usually resolve with no long-term sequelae. Acute lung injury is not commonly seen in Mycoplasma pneumonia. We report a case of acute respiratory distress syndrome cause by M. pneumoniae diagnosed by quantitative real-time polymerase chain reaction (RT-PCR).

Yew, Peter; Farren, David; Curran, Tanya; Coyle, Peter V; McCaughey, Conall; McGarvey, Lorcan



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

Microsoft Academic Search

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

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



Two diagnoses become one? Rare case report of anorexia nervosa and Cushing's syndrome  

PubMed Central

Hypothalamic-pituitary-adrenal axis impairment in anorexia nervosa is marked by hypercortisolemia, and psychiatric disorders occur in the majority of patients with Cushing’s syndrome. Here we report a patient diagnosed with anorexia nervosa who also developed Cushing’s syndrome. A 26-year-old female had been treated for anorexia nervosa since she was 17 years old, and also developed depression and paranoid schizophrenia. She was admitted to the Department of Endocrinology, Metabolism, and Internal Medicine with a preliminary diagnosis of Cushing’s syndrome. Computed tomography revealed a 27 mm left adrenal tumor, and she underwent laparoscopic adrenalectomy. She was admitted to hospital 6 months after this procedure, at which time she did not report any eating or mood disorder. This is a rare case report of a patient with anorexia nervosa in whom Cushing’s syndrome was subsequently diagnosed. Diagnostic difficulties were caused by the signs and symptoms presenting in the course of both disorders, ie, hypercortisolemia, osteoporosis, secondary amenorrhea, striae, hypokalemia, muscle weakness, and depression.

Sawicka, Nadia; Gryczynska, Maria; Sowinski, Jerzy; Tamborska-Zedlewska, Monika; Ruchala, Marek



Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.  


We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. PMID:22178801

Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar



PBSC mobilization in newly diagnosed patients with POEMS syndrome: outcomes and prognostic factors.  


Autologous PBSC transplantation is a preferred treatment for patients with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS syndrome). However, data on stem cell mobilization in POEMS syndrome are limited. We retrospectively reviewed outcomes and factors prognostic of mobilization in newly diagnosed patients with POEMS syndrome. A total of 56 patients (41 men and 15 women) were included and the median age was 45 years (range, 24-62). All patients underwent mobilization with CY plus granulocyte CSF (G-CSF) (n=38) or G-CSF alone (n=18). The median total number of harvested CD34+ cells was 2.01 × 10(6)/kg (range, 0.18-9.0 × 10(6)/kg). In all, 29 (51.8%) patients failed to yield more than 2 × 10(6)/kg CD34+ cells, and among them, 7 (12.5%) patients yielded <1 × 10(6)/kg CD34+ cells. The overall mobilization-related morbidity was 23.3% and acute renal failure was the most common complication during mobilization. Multivariate analysis showed that hepatomegaly (odds ratio 0.06, 95% confidence interval (CI) 0.01-0.43) and mobilization regimen of G-CSF alone (odds ratio 0.08, 95% CI 0.01-0.70) were independent prognostic factors for successful mobilization in POEMS syndrome. In conclusion, mobilization in newly diagnosed patients with POEMS syndrome is challenging with low yield of CD34+ cells and high morbidity. Induction therapy before mobilization might improve the efficacy and safety of mobilization. PMID:22825426

Li, J; Zhang, W; Duan, M H; Jiao, L; Zhu, T N; Han, B; Zhang, L; Gan, J; Zhou, D B



The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.  


The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and this detected high levels of mosaicism for the isochromosome. We review one previously reported case [Woodman et al. (1995) Genet Couns 6:33-36] and report a further seven clinically suspected cases in which the diagnoses were confirmed by FISH on buccal mucosa, and recommend that this tissue be used routinely for laboratory confirmation. The presence of the isochromosome 12p at levels as low as 1% is acceptable. PMID:10955474

Manasse, B F; Lekgate, N; Pfaffenzeller, W M; de Ravel, T J



Natural history of wolff-Parkinson-white syndrome diagnosed in childhood.  


Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ?3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p <0.0001). There were 6 sudden deaths (1.3%), with an incidence of 2.8 per 1,000 patient-years. Two of these patients had structurally normal hearts (incidence 1.1 per 1,000 patient-years). Four of these patients had associated heart disease (incidence 27 per 1,000 patient-years) (p <0.01). In conclusion, in a large population of patients with Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. PMID:23827401

Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav



Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.  


The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unleashed ferritin translation. This paper reviews all 31 mutations (27 single nucleotide transitions and four deletions) that have been described since 1995. Laboratory test showing hyperferritinaemia, normal serum iron and normal transferrin saturation are indicative for HHCS after exclusion of other causes of increased ferritin levels (inflammation, malignancy, alcoholic liver disease) and should prompt an ophthalmological consultation for diagnostic confirmation. Invasive diagnostics such as liver biopsy are not indicated. HHCS is an important differential diagnosis of hyperferritinaemia. Haematologists, gastroenterologists and ophthalmologists should be aware of this syndrome to spare patients from further invasive diagnosis (liver biopsy), and also from a false diagnosis of hereditary haemochromatosis followed by venesections. Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence. PMID:20511138

Millonig, Gunda; Muckenthaler, Martina U; Mueller, Sebastian



Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder  

PubMed Central

The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unleashed ferritin translation. This paper reviews all 31 mutations (27 single nucleotide transitions and four deletions) that have been described since 1995. Laboratory test showing hyperferritinaemia, normal serum iron and normal transferrin saturation are indicative for HHCS after exclusion of other causes of increased ferritin levels (inflammation, malignancy, alcoholic liver disease) and should prompt an ophthalmological consultation for diagnostic confirmation. Invasive diagnostics such as liver biopsy are not indicated. HHCS is an important differential diagnosis of hyperferritinaemia. Haematologists, gastroenterologists and ophthalmologists should be aware of this syndrome to spare patients from further invasive diagnosis (liver biopsy), and also from a false diagnosis of hereditary haemochromatosis followed by venesections. Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence.



Concurrent Validity of the Child Behavior Checklist DSM-Oriented Scales: Correspondence with DSM Diagnoses and Comparison to Syndrome Scales  

PubMed Central

This study used receiver operating characteristic (ROC) methodology and discriminative analyses to examine the correspondence of the Child Behavior Checklist (CBCL) rationally-derived DSM-oriented scales and empirically-derived syndrome scales with clinical diagnoses in a clinic-referred sample of children and adolescents (N?=?476). Although results demonstrated that the CBCL Anxiety, Affective, Attention Deficit/Hyperactivity, Oppositional and Conduct Problems DSM-oriented scales corresponded significantly with related clinical diagnoses derived from parent-based structured interviews, these DSM-oriented scales did not evidence significantly greater correspondence with clinical diagnoses than the syndrome scales in all cases but one. The DSM-oriented Anxiety Problems scale was the only scale that evidenced significantly greater correspondence with diagnoses above its syndrome scale counterpart —the Anxious/Depressed scale. The recently developed and rationally-derived DSM-oriented scales thus generally do not add incremental clinical utility above that already afforded by the syndrome scales with respect to corresponding with diagnoses. Implications of these findings are discussed.

Bernstein, Adam; Nakamura, Brad J.; Chorpita, Bruce F.; Higa-McMillan, Charmaine K.; Weisz, John R.



Prevalence and characteristics of the metabolic syndrome among newly diagnosed hypertensive patients  

PubMed Central

Background: Cardiovascular disease risk factors have a tendency to cluster. The presence of such a cluster in an individual has been designated the metabolic syndrome (MetS). There is a paucity of reports of the prevalence of MetS in hypertensive patients in south east Nigeria. This study was undertaken to determine the prevalence of the metabolic syndrome (MetS) among newly diagnosed hypertensive patients using the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) criteria in a tertiary healthcare centre in South East Nigeria. Materials and Methods: A population of 250 consecutive newly diagnosed adult hypertensive patients (126 males and 124 females) was evaluated. Blood pressure and anthropometric measurements were done using standardized techniques. After an overnight fast, blood samples were taken for glucose and lipid profile assays. The NCEP ATP III criteria were then applied for the diagnosis of MetS. Results: The prevalence of the MetS among the study population was 31.2%. The sex-specific prevalences were 15.1% and 47.6% among male and female patients respectively. A large number of the patients (40.4%) were at a high potential risk of developing the MetS as they already met 2 of the criteria. The MetS prevalence increased progressively from 14.3% through 23.8%, in the patients aged 24-33years and 34-43 years, respectively to a peak (40.4%) among those aged 44-53 years before declining in those aged 54-63 years (31.8%), 64-73 years (33.3%) and 74 years and above (20.6%). Central obesity was the most common component of the MetS being present in 50.4% of patients (28.6% of males and 72.6% of females). Of the other components, low HDL-C was present in 38.8% (26.2% of males and 51.6% of females), elevated FBS in 12.8% (6.3% of males and 19.4% of females) and elevated triglycerides in 8.8% (11.9% of males and 5.6% of females). Conclusion: The prevalence of the MetS is high among newly diagnosed hypertensive patients in Nnewi South East Nigeria. This underscores the importance of routine screening of hypertensive patients for other cardiovascular disease risk factors.

Osuji, Charles U.; Omejua, Emeka G.



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

ERIC Educational Resources Information Center

|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…

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



Case Study: Using a Virtual Reality Computer Game to Teach Fire Safety Skills to Children Diagnosed with Fetal Alcohol Syndrome  

Microsoft Academic Search

Objective To assess the effectiveness of a computer-based virtual reality (VR) game in teach- ing five children diagnosed with fetal alcohol syndrome (FAS) fire safety skills and to generalize these skills to a real world simulation. Method Children participated in a study by using a multiple baseline, multiple probe design. Before the game, no child could correctly describe what actions

Lynne S. Padgett; Dorothy Strickland; Claire D. Coles



Hedgehog signaling update.  


In vertebrate hedgehog signaling, hedgehog ligands are processed to become bilipidated and then multimerize, which allows them to leave the signaling cell via Dispatched 1 and become transported via glypicans and megalin to the responding cells. Hedgehog then interacts with a complex of Patched 1 and Cdo/Boc, which activates endocytic Smoothened to the cilium. Patched 1 regulates the activity of Smoothened (1) via Vitamin D3, which inhibits Smoothened in the absence of hedgehog ligand or (2) via oxysterols, which activate Smoothened in the presence of hedgehog ligand. Hedgehog ligands also interact with Hip1, Patched 2, and Gas1, which regulate the range as well as the level of hedgehog signaling. In vertebrates, Smoothened is shortened at its C-terminal end and lacks most of the phosphorylation sites of importance in Drosophila. Cos2, also of importance in Drosophila, plays no role in mammalian transduction, nor do its homologs Kif7 and Kif27. The cilium may provide a function analogous to that of Cos2 by linking Smoothened to the modulation of Gli transcription factors. Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, Smith-Lemli-Opitz syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Carpenter syndrome, and Rubinstein-Taybi syndrome. PMID:20635334

Cohen, M Michael



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


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

Holdnack, James; Goldstein, Gerald; Drozdick, Lisa



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


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

Clark, Kevin B



A novel method of diagnosing autonomic dysfunction in carpal tunnel syndrome: measuring skin capacitance.  


Carpal Tunnel Syndrome (CTS) is normally diagnosed via its sensory and motor manifestations. The associated autonomic dysfunction has not been exploited to its full potential as a diagnostic tool due to the difficulties in quantifying it. We aim to demonstrate that autonomic dysfunction of CTS can be quantified by measuring skin capacitance. Fifty-one patients with clinical signs and electrophysiological evidence of CTS in 89 hands were recruited. Skin capacitance was measured using Corneometer CM825 (C&K Electronic, GmbH) from the palmar aspect of the distal phalanx of the index and little finger of the affected hand. Healthy gender- and age-matched individuals were recruited as controls. The mean ratio of hydration of the index to the little finger was 0.82. The mean difference was 10.98 arbitrary units. The control group consisted of 151 subjects (80 Male & 71 Female) and 302 hands with an average age of 40.1 years (18-81 years). The mean ratio of hydration of the index to the little finger was 0.87. The mean difference was 8.67 arbitrary units. The measurement ratios (index to little finger skin hydration) between the two groups was compared directly and gave a significant mean difference of 0.05 arbitrary units. Statistically significant differences in skin capacitance between CTS patients and controls have been demonstrated and quantified using a rapid and simple method. This can be used in clinic to reduce the reliance on Nerve Conduction Studies for diagnosing CTS. PMID:23208934

Ibrahim, Inji; Khan, Wasim Sardar; Dheerendra, Sujay; Smitham, Peter; Goddard, Nicholas


Cholesterol metabolism deficiency.  


Genetic defects in enzymes responsible for cholesterol biosynthesis have emerged as important causes of congenital dysmorphology and retardation syndromes. Cholesterol is an important constituent of the cell membrane of most eukaryotic cells, in myelin formation in the brain, spinal cord, and peripheral nervous system, and acts as the precursor for steroid hormones and bile acids. Finally, cholesterol has important interactions with proteins, which control embryonic development. To date, eight distinct inherited disorders have been linked to different defects in cholesterol biosynthesis. Two result from an enzyme defect in the pre-squalene segment of the pathway: the classical form of mevalonic aciduria and the hyperimmunoglobulinemia D syndrome, also known as Dutch-type periodic fever. Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal disorders, Conradi-Hünermann-Happle syndrome and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD), and at least three extremely rare autosomal recessive disorders, Greenberg skeletal dysplasia, lathosterolosis, and desmosterolosis. All these inborn errors known to date have been linked to deficiency of specific enzymes on the basis of elevated levels of specific sterol intermediates in tissues of affected patients followed by demonstrating disease-causing mutations in the encoding genes. These cholesterol deficiency multiple malformation-retardation syndromes have clinical overlap. Besides psychomotor retardation, developmental delay, structural brain malformations, multiple congenital anomalies, microcephaly, and cataract, impaired cholesterol biosynthesis is associated with autism and other behavioral disorders. PMID:23622407

Jira, Petr



One elevated bladder pressure measurement may not be enough to diagnose abdominal compartment syndrome.  


Bladder pressure measurements (BPMs) are considered a key component in the diagnosis of abdominal compartment syndrome (ACS). The purpose of this observational review was to determine risk factors of ACS and associated mortality with particular focus on the role of BPM. A retrospective trauma registry and chart review was performed on trauma patients from January 2003 through December 2010. Comparisons were made between patients with and without ACS. There were 3172 patients included in the study of whom 46 had ACS. Patients with ACS were younger, more severely injured, with longer lengths of stay. Logistic regression determined Injury Severity Score (ISS) and urinary catheter days as independent predictors of ACS, whereas independent predictors of mortality included age, ISS, and ACS. Subset analysis demonstrated no association between BPM 20 mmHg or greater and diagnosis of ACS versus no ACS. Logistic regression indicated independent predictors of mortality were number of BPM 20 mmHg or greater and age. Patients with ACS are more severely injured with worse outcomes. An isolated BPM 20 mmHg or greater was not associated with ACS and may be inadequate to independently diagnose ACS. These findings suggest the need for repeat measurements with early intervention if they remain elevated in an effort to decrease mortality associated with ACS. PMID:23336652

Young, Andrew Joseph; Weber, William; Wolfe, Luke; Ivatury, Rao R; Duane, Therese Marie



Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens.  


Currarino syndrome (CS) is an autosomal dominant disorder of embryonic development characterized by the triad of anorectal abnormalities, partial sacral agenesis, and presacral mass. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. We report the clinical case of a 44-year-old Caucasian woman with malignant neuroendocrine transformation of a pre-sacrococcygeal mass combined with bicornuate uterus, dermoid cyst of the ovaries, and chronic constipation. After the patient died, a sacrococcygeal malformation and anterior meningocele were diagnosed in her 22-year-old son. CS diagnosis was then retrospectively confirmed by molecular analysis of normal and pathological tissue specimens of the mother, with identification of a HLXB9 mutation (c.727C>T; p.R243W). CS should be considered, and genetic counseling recommended, to all patients with presacral masses. Since malignant neuroendocrine transformation of presacral mass in CS is a possible complication, even thought rare, close follow up in these patients is advisable. PMID:21915987

Ciotti, Paola; Mandich, Paola; Bellone, Emilia; Ceppa, Paola; Bovio, Marta; Ameri, Pietro; Torre, Giancarlo; Fiocca, Roberto; Murialdo, Giovanni



A Case Report of AA Amyloidosis Associated With Familial Periodic Fever Syndrome Diagnosed After Kidney Transplantation: Never Say Never.  


Recurrent or "de novo" AA amyloidosis in the renal allograft is rarely described. We describe a case of severe nephrotic syndrome in a recipient of a kidney graft with a previous diagnosis of polycystic nephropathy caused by AA amyloidosis diagnosed only after the renal transplantation. The disease was possibly a tumor necrosis factor receptor-associated periodic syndrome (TRAPS). TRAPS is a rare hereditary inflammatory disease never reported to the best of our knowledge, as a de novo diagnosis in the transplantation setting. Biopsy of the renal graft, indicated for the onset of heavy proteinuria, and genetic investigation provided the clues for diagnosis. PMID:24034047

Messina, M; Daidola, G; Restagno, G; Lavacca, A; Ranghino, A; Biancone, L; Segoloni, G P



Impact of metabolic syndrome criteria on cardiovascular disease risk in people with newly diagnosed type 2 diabetes  

Microsoft Academic Search

Aims\\/hypothesis  We investigated the prognostic implication of metabolic syndrome according to modified National Cholesterol Education Program\\u000a criteria and the implication of individual features of metabolic syndrome on cardiovascular disease (CVD) and CHD in a 5-year\\u000a community-based study of people with newly diagnosed type 2 diabetes.\\u000a \\u000a \\u000a \\u000a Methods  We entered 562 participants, aged 30–74 years, into a cross-sectional analysis and 428 participants (comprising those who

R. N. Guzder; W. Gatling; M. A. Mullee; C. D. Byrne



Functional analysis of cholesterol biosynthesis by RNA interference.  


Inborn errors of cholesterol biosynthesis caused by dysfunctionality of single enzymes are known to cause severe malformation syndromes like X-linked chondrodysplasia punctata (CDPX2), CHILD syndrome or Smith-Lemli-Opitz-syndrome (SLOS). In this study we established the method of RNA interference (RNAi) for analyzing the molecular mechanisms underlying disrupted cholesterol biosynthesis. For different genes involved in the cholesterol biosynthesis pathway-NAD(P) dependent steroid dehydrogenase-like (NSDHL), 17-beta hydroxysteroid dehydrogenase type 7 (HSD17B7) and emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness. For a better comparability of the experiments and to avoid different transfection efficiencies, examined shRNA sequences which reached a knock down of at least 80% were stably transfected in a HeLa cell line with a tetracycline-regulated expression (HeLa T-REx). These stable transfected cell lines represent novel tools for the analysis of cholesterol biosynthesis. PMID:17498944

Guggenberger, Christina; Ilgen, Denise; Adamski, Jerzy



[Myelodisplasic syndromes diagnosed in a geriatric hospital: morphological profile in 100 patients].  


Myelodysplastic syndrome (MDS) is particularly common in geriatric practice. As few data are available in very elderly patients, we conducted a 54-month retrospective study in patients over 70 years with MDS diagnosed at Hôpital Charles Foix. Patients with cobalamine, folate or iron deficiency were excluded. Regarding biological and morphologic approaches, MDS patients were classified according to the FAB criteria. We then tempted to reclassify the patients according to the WHO criteria. The Bournemouth scoring system was used as a prognostic tool. During the study period, 100 patients were included, 29 males and 71 females, median age 86 +/- 7 years (70-103). At the time of bone marrow sampling, a peripheral blood cytopenia was documented in 64 patients, a bicytopenia in 27 patients and a pancytopenia in 9 patients. Isolated anaemia (Hb < 12 g/dL) was found in 60 patients and isolated thrombocytopenia (< 150 x 10(9)/L) in 4. Macrocytosis (MCV > 100 fL) was observed in 21 % of the cases. According to the FAB criteria, the 100 patients were classified as follows: refractory anaemia (RA): 79%; RA with ringed sideroblasts (RARS): 8%; RA with excess of blasts (RAEB): 8%; RAEB in transformation: 1%; chronic myelomonocytic leukaemia: 4%. According to the WHO classification, the patients were reclassified as follows: RA (unilineage) (with or without ringed sideroblasts): 10%; refractory cytopenia with multilineage dysplasia with or without ringed sideroblasts (RCMD): 73%; RAEB: 7% (RAEB-1 6%, RAEB-21%); MDS/Myeloproliferative disorder: 4%; unclassified (hypocellularity): 5%; acute leukaemia: 1%. In order to estimate prognosis at the time of the bone marrow aspirate, we calculated the Bournemouth'score: 8 patients scored 0,57 scored 1,25 scored 2,8 scored 3 and 2 scored 4. In this geriatric population, 83% cases of MDS are RA or RCMD (with or without sideroblasts); MDS with excess of blasts are uncommon. Thus, elderly patients under study with MDS were diagnosed at an earlier stage of the disease than younger ones from series published in the literature. Due to frequent comorbidities, geriatric patients may be symptomatic for a slight decrease of haemoglobin level. Therefore, elderly patients are investigated as soon as they present with moderate anaemia that may explain the early MDS diagnosis. PMID:15047472

Dewulf, G; Gouin, I; Pautas, E; Gaussem, P; Chaïbi, P; Andreux, J-P; Siguret, V


Suicidal Ideation and Comorbid Disorders in Adolescents and Young Adults Diagnosed with Asperger's Syndrome: A Population at Risk  

Microsoft Academic Search

The purpose of this study was to examine the level of suicidal ideation and comorbid disorders (major depressive disorder, generalized anxiety disorder) among adolescents and young adults with diagnosed Asperger's syndrome (AS). A cross-sectional study using a self-administrated mail questionnaire and a Web-based questionnaire were used. Two samples were selected for this study. The first sample used snowball sampling, starting

Oren Shtayermman



An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.  


Usher syndrome type 1 (USH1) appears to have only profound non-syndromic hearing loss in childhood and retinitis pigmentosa develops in later years. This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. We report the case of 6-year-old male with profound hearing loss, who did not have visual symptoms. The frequency of MYO7A mutations in profound hearing loss children is also discussed. We sequenced all exons of the MYO7A gene in 80 Japanese children with severe to profound non-syndromic HL not due to mutations of the GJB2 gene (ages 0-14 years). A total of nine DNA variants were found and six of them were presumed to be non-pathogenic variants. In addition, three variants of them were found in two patients (2.5%) with deafness and were classified as possible pathogenic variants. Among them, at least one nonsense mutation and one missense mutation from the patient were confirmed to be responsible for deafness. After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1. This is the first case report to show the advantage of MYO7A mutation analysis to diagnose USH1 before the appearance of visual symptoms. We believed that MYO7A mutation analysis is valid for the early diagnosis of USH1. PMID:23237960

Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi



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


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

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



Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.  


Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis. These findings have not been reported previously in the lethal type Larsen syndrome. PMID:19014058

Orhan, Diclehan; Balci, Sevim; Deren, Ozgür; Utine, Eda Gülen; Ba?aran, Ahmet; Kale, Gülsev


Munchausen syndrome in the emergency department mostly difficult, sometimes easy to diagnose: a case report and review of the literature.  


Munchausen syndrome is a rare psychiatric disorder in which patients inflict on themselves an illness or injury for the primary purpose of assuming the sick role. Because these patients can present with many different complaints and clinical symptoms, diagnosis is often made at a later stage of hospitalisation. In contrast we report a case of a 40-year old woman very easy to diagnose with Munchausen syndrome.This trained nurse presented at our emergency department (ED) complaining of abdominal pain. Interviewed by the medical trainee, she immediately confessed having put a knitting needle into her urethra four days earlier. She was not able to remove it anymore because it was beyond her reach. Abdominal X-ray confirmed the presence of the needle and a median laparotomy was performed to remove it. The diagnosis of Munchausen syndrome seemed immediately obvious in this case. PMID:19909508

Lauwers, Rinaldo; Van De Winkel, Nele; Vanderbruggen, Nathalie; Hubloue, Ives



Trends in Down’s syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register  

Microsoft Academic Search

Objectives To describe trends in the numbers of Down’s syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008.Design and setting The National Down Syndrome Cytogenetic Register holds details of 26488 antenatal and postnatal diagnoses of Down’s syndrome made by all cytogenetic laboratories in England and Wales since 1989.Interventions Antenatal screening, diagnosis, and subsequent termination of

Joan K Morris; Eva Alberman



SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.  


Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Previous studies estimated the prevalence of SLOS between 1 in 10,000 to 1 in 70,358 based on case frequency surveys. Although panethnic, SLOS appears to be most frequent in Central European populations (Czech Republic 1 in 10,000, Slovakia 1 in 15,000 - 1 in 20,000). In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations. We analyzed 2169 samples for the p.Trp151X mutation and 2087 for the p.Val326Leu mutation. The combined carrier frequency of these two mutations of was 2.40+/-0.32%, yielding a calculated incidence of SLOS in Poland of 2.5 4x10(-4)-4.3 5x10(-4) (1 in 2,300 to 1 in 3,937) placing SLOS among the most common recessive genetic disorders in Poland. PMID:16497572

Ciara, E; Popowska, E; Piekutowska-Abramczuk, D; Jurkiewicz, D; Borucka-Mankiewicz, M; Kowalski, Pawe?; Goryluk-Kozakiewicz, B; Nowaczyk, M J M; Krajewska-Walasek, M



7-Dehydrocholesterol Enhances Ultraviolet A-Induced Oxidative Stress in Keratinocytes: Roles of Nadph Oxidase, Mitochondria and Lipid Rafts  

PubMed Central

Long wavelength solar UVA radiation stimulates formation of reactive oxygen species (ROS) and prostaglandin E2 (PGE2), which are involved in skin photosensitivity and tumor promotion. High levels of 7-dehydrocholesterol (7-DHC), the precursor to cholesterol, cause exaggerated photosensitivity to UVA in patients with Smith-Lemli-Opitz syndrome (SLOS). Partially replacing cholesterol with 7-DHC in keratinocytes rapidly (<5 min) increased UVA-induced ROS, intracellular calcium, phospholipase A2 activity, PGE2, and NADPH oxidase activity. UVA-induced ROS and PGE2 production were inhibited in these cells by depleting the Nox1 subunit of NADPH oxidase using siRNA or using a mitochondrial radical quencher, MitoQ. Partial replacement of cholesterol with 7-DHC also disrupted membrane lipid raft domains, although depletion of cholesterol, which also disrupts lipid rafts, did not affect UVA-induced increases in ROS and PGE2. Phospholipid liposomes containing 7-DHC were more rapidly oxidized by a free radical mechanism than those containing cholesterol. These results indicate that 7-DHC enhances rapid UVA-induced ROS and PGE2 formation by enhancing free radical-mediated membrane lipid oxidation and suggests that this mechanism might underlie the UVA-photosensitivity in SLOS.

Valencia, Antonio; Rajadurai, Anpuchchelvi; Carle, A. Bjorn; Kochevar, Irene E.



Autism: the role of cholesterol in treatment.  


Cholesterol is essential for neuroactive steroid production, growth of myelin membranes, and normal embryonic and fetal development. It also modulates the oxytocin receptor, ligand activity and G-protein coupling of the serotonin-1A receptor. A deficit of cholesterol may perturb these biological mechanisms and thereby contribute to autism spectrum disorders (ASDs), as observed in Smith-Lemli-Opitz syndrome (SLOS) and some subjects with ASDs in the Autism Genetic Resource Exchange (AGRE). A clinical diagnosis of SLOS can be confirmed by laboratory testing with an elevated plasma 7DHC level relative to the cholesterol level and is treatable by dietary cholesterol supplementation. Individuals with SLOS who have such cholesterol treatment display fewer autistic behaviours, infections, and symptoms of irritability and hyperactivity, with improvements in physical growth, sleep and social interactions. Other behaviours shown to improve with cholesterol supplementation include aggressive behaviours, self-injury, temper outbursts and trichotillomania. Cholesterol ought to be considered as a helpful treatment approach while awaiting an improved understanding of cholesterol metabolism and ASD. There is an increasing recognition that this single-gene disorder of abnormal cholesterol synthesis may be a model for understanding genetic causes of autism and the role of cholesterol in ASD. PMID:18386207

Aneja, Alka; Tierney, Elaine



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


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 (d(7)-7-DHC). The observation of matching d(0)- and d(7) 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

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



Psychiatric diagnoses in patients with burning mouth syndrome and atypical odontalgia referred from psychiatric to dental facilities  

PubMed Central

Background Burning mouth syndrome (BMS) and atypical odontalgia (AO) are two conditions involving chronic oral pain in the absence of any organic cause. Psychiatrically they can both be considered as “somatoform disorder”. From the dental point of view, however, the two disorders are quite distinct. BMS is a burning or stinging sensation in the mouth in association with a normal mucosa whereas AO is most frequently associated with a continuous pain in the teeth or in a tooth socket after extraction in the absence of any identifiable cause. Because of the absence of organic causes, BMS and AO are often regarded as psychogenic conditions, although the relationship between oral pain and psychologic factors is still unclear. Some studies have analyzed the psychiatric diagnoses of patients with chronic oral pain who have been referred from dental facilities to psychiatric facilities. No study to date has investigated patients referred from psychiatric facilities to dental facilities. Objective To analyze the psychiatric diagnoses of chronic oral pain patients, diagnosed with BMS and AO, and referred from psychiatric facilities to dental facilities. Study design Psychiatric diagnoses and disease conditions of BMS or AO were investigated in 162 patients by reviewing patients’ medical records and referral forms. Psychiatric diagnoses were categorized according to the International Statistical Classification of Disease and Related Health Problems, Tenth Revision. Results The proportion of F4 classification (neurotic, stress-related, and somatoform disorders) in AO patients was significantly higher than in BMS patients. BMS patients were more frequently given a F3 classification (mood/affective disorders). However, 50.8% of BMS patients and 33.3% of AO patients had no specific psychiatric diagnoses. Conclusion Although BMS and AO are both chronic pain disorders occurring in the absence of any organic cause, the psychiatric diagnoses of patients with BMS and AO differ substantially.

Takenoshita, Miho; Sato, Tomoko; Kato, Yuichi; Katagiri, Ayano; Yoshikawa, Tatsuya; Sato, Yusuke; Matsushima, Eisuke; Sasaki, Yoshiyuki; Toyofuku, Akira



Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.  


We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. PMID:19839044

Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino



Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals  

Microsoft Academic Search

Objective: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007. Methods: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated

Asude Alpman; Ozgur Cogulu; Mehmet Akgul; Burak Durmaz; Emin Karaca; Cihangir Ozkinay; Ferda Ozkinay



Diagnosing moral disorder: the discovery and evolution of fetal alcohol syndrome  

Microsoft Academic Search

The diagnosis of fetal alcohol syndrome (FAS) was invented in 1973. This paper investigates the process by which a cluster of birth defects associated with exposure to alcohol in utero came to be a distinct medical diagnosis, focusing on the first ten years of the medical literature on FAS. Fetal alcohol syndrome was “discovered” by a group of American dysmorphologists

Elizabeth M. Armstrong



Making sense of the cytokine storm: a conceptual framework for understanding, diagnosing, and treating hemophagocytic syndromes.  


Cytokine storm syndromes (CSS) are a group of disorders representing a variety of inflammatory causes. The clinical presentations of all CSS can be strikingly similar, creating diagnostic uncertainty. However, clinicians should avoid the temptation to treat all CSS equally, because their inciting inflammatory insults vary widely. Failure to identify and address this underlying trigger results in delayed, inoptimal, or potentially harmful consequences. This review places the hemophagocytic syndromes hemophagocytic lymphohistiocytosis and macrophage activation syndrome within a conceptual model of CSS and provides a logical framework for diagnosis and treatment of CSS of suspected rheumatic origin. PMID:22560573

Canna, Scott W; Behrens, Edward M



Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses  

Microsoft Academic Search

Background  Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown.\\u000a \\u000a \\u000a \\u000a Objective  To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital\\u000a heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support.\\u000a \\u000a \\u000a \\u000a Materials and methods  A review of the CT examinations of 25 children with Down syndrome

David M. Biko; Michael Schwartz; Sudha A. Anupindi; Talissa A. Altes



Syndrome Comorbidity in Patients Diagnosed With a DSM–III–R Anxiety Disorder  

Microsoft Academic Search

One hundred thirty patients presenting at an anxiety disorders research clinic were administered a structured interview (i.e., Anxiety Disorders Interview Schedule-Revised). Diagnoses were made in accordance with Diagnostic and Statistical Manual (rev. 3rd ed.) criteria. Seventy percent of patients received at least one additional but secondary Axis I diagnosis. The most common additional diagnoses were simple and social phobia, which

William C. Sanderson; Peter A. DiNardo; Ronald M. Rapee; David H. Barlow



Characterization of babies discharged from Cabell Huntington Hospital during the calendar year 2005 with the diagnoses of neonatal abstinence syndrome.  


Recent concern regarding the impact of maternal drug abuse on neonatal well being was the impetus for this retrospective cohort study of newborns diagnosed with neonatal abstinence syndrome that were discharged from Cabell Huntington Hospital during the calendar year 2005. Medical records of the neonates and their mothers were analyzed for a variety of health related outcomes and healthcare cost. Forty-eight neonates were diagnosed with Neonatal Abstinence Syndrome in 2005, forty of which required NICU assistance. The average maternal age at delivery was 26; gravity was 3.1 and most were single, separated or divorced. The majority had poor or inconsistent prenatal care. Twenty-one delivered by cesarean section most often for fetal distress. Most delivered prematurely with an average gestation of 35.9 weeks. Half of the mothers went into preterm labor with half of those having premature ruptured membranes. Opiates were the most common maternal substance found, while neonates most often tested positive for methadone. Nearly 90% of the mothers smoked. Thirty-four of the mothers were found to continue illicit drug abuse while pregnant, while another eight were seen in a methadone clinic for a history of abuse. Most of the neonates required weaning with methadone. The majority of our study cases were funded by Medicaid, mostly by West Virginia with total hospital costs exceeding 1.7 million dollars. Direct cost attributed to detoxification was in excess of $180,000. The number of neonates diagnosed with Neonatal Abstinence Syndrome has nearly tripled from 2003 to 2007. The problem of maternal drug abuse and addiction during pregnancy has dramatic effects on both their unborn children and our local healthcare system. Increased awareness of this growing problem is needed so that earlier interventions can be implemented. It is our opinion that all obstetrical patients at risk should be screened early and often so that those affected individuals can be managed more aggressively to improve neonatal outcomes. PMID:19271694

Baxter, F Ross; Nerhood, Robert; Chaffin, David


Making Sense of the Cytokine Storm: a conceptual framework for understanding, diagnosing and treating hemophagocytic syndromes  

PubMed Central

SYNOPSIS Cytokine Storm Syndromes (CSS) are a group of disorders representing a variety of inflammatory etiologies with the final common result of overwhelming systemic inflammation, hemodynamic instability, multiple organ dysfunction, and potentially death. The hemophagocytic syndromes hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) represent two clinically similar CSS with an unknown degree of pathoetiologic overlap. The clinical presentations of all CSS can be strikingly similar, creating diagnostic uncertainty. However, clinicians should avoid the temptation to treat all CSS equally, as their inciting inflammatory insults vary widely. Failure to identify and address this underlying trigger will result in delayed, inoptimal, or potentially harmful consequences. This review endeavors to place the hemophagocytic syndromes HLH and MAS within a conceptual model of CSS, and thus provide a logical framework for diagnosis and treatment of CSS of suspected rheumatic origin.

Canna, Scott W.



Novel Resequencing Chip Customized to Diagnose Mutations in Patients With Inherited Syndromes of Intrahepatic Cholestasis  

Microsoft Academic Search

Background & Aims: Inherited syndromes of in- trahepatic cholestasis commonly result from mu- tations in the genes SERPINA1 (1-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 (PFIC1)), ABCB11 (PFIC2), and ABCB4 (PFIC3). However, the large gene sizes and lack of muta- tional hotspots make it difficult to survey for dis- ease-causing mutations in clinical practice. Here,

Cong Liu; Bruce J. Aronow; Anil G. Jegga; Ning Wang; Alex Miethke; Reena Mourya; Jorge A. Bezerra



A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome  

Microsoft Academic Search

Keratitis–ichthyosis–deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene. This finding expands the spectrum of disorders caused by defects in connexin 26 and implies

Maurice A. M. van Steensel; Michel van Geel; Marc Nahuys; J. Henk Sillevis Smitt; Peter M. Steijlen



Chronic Prostatitis\\/Chronic Pelvic Pain Syndrome and Pelvic Floor Spasm: Can We Diagnose and Treat?  

Microsoft Academic Search

National Institutes of Health category III prostatitis, also known as chronic prostatitis\\/chronic pelvic pain syndrome, is\\u000a a common condition with significant impact on quality of life. This clinically defined syndrome has a multifactorial etiology\\u000a and seems to respond best to multimodal therapy. At least half of these patients have pelvic floor spasm. There are several\\u000a approaches to therapy including biofeedback,

Karin E. Westesson; Daniel A. Shoskes



Detecting multiple autoantibodies to diagnose autoimmune co-morbidity (multiple autoimmune syndromes and overlap syndromes): a challenge for the autoimmunologist.  


In the last 15 years, the estimated prevalence of autoimmune diseases increased from about 4 to 9.4%. Autoimmune co-morbidity (i.e., the association between two or more autoimmune diseases in the same patient) is present in 0.4-0.5% of the worldwide population, more frequently in patients with multiple sclerosis, rheumatoid arthritis, autoimmune thyroid disease, type 1 diabetes, inflammatory bowel disease and vitiligo. The most common associations between autoimmune diseases define two clusters: the multiple autoimmune syndromes and overlap syndromes. This review highlights the importance of multiple antibody assays in the diagnosis of multiple autoimmune and overlap syndromes and summarizes the general conditions of autoantibody detection using the model of the five W's: why, who, what, when and where. These conditions represent a new challenge for clinical and laboratory autoimmunologists, who, in a multidisciplinary arena, cooperate in investigating and treating multiple autoimmune disorders. PMID:23606120

Tozzoli, Renato; Sorrentino, Maria Concetta; Bizzaro, Nicola



Diagnosing "vulnerable system syndrome": an essential prerequisite to effective risk management  

PubMed Central

Investigations of accidents in a number of hazardous domains suggest that a cluster of organisational pathologies—the "vulnerable system syndrome" (VSS)—render some systems more liable to adverse events. This syndrome has three interacting and self-perpetuating elements: blaming front line individuals, denying the existence of systemic error provoking weaknesses, and the blinkered pursuit of productive and financial indicators. VSS is present to some degree in all organisations, and the ability to recognise its symptoms is an essential skill in the progress towards improved patient safety. Two kinds of organisational learning are discussed: "single loop" learning that fuels and sustains VSS and "double loop" learning that is necessary to start breaking free from it. Key Words: vulnerable system syndrome; risk management; patient safety; learning

Reason, J; Carthey, J; de Leval, M R



[Pathophysiological analysis of dropped head syndrome caused by various diagnoses - based on surface EMG findings and responses to physiotherapy].  


Dropped head syndrome is seen in various diseases. We investigated its pathophysiological mechanisms with physical and radiological examination, surface EMG and responses to physiotherapy. Subjects had dropped head as a complaint, but their primary diagnoses were various. We investigated 16 cases: 5 cases of Parkinson disease, 5 cases of multiple system atrophy predominant parkinsonism, 3 cases of cervical spondylosis and 3 cases with other diagnoses. We found that patients had common findings such as bulging of cervical muscles, and tonic EMG activities mainly in the extensors in the sitting and standing position, but in the flexors of the neck only in the supine position. Of the 16 cases, 14 were treated with physiotherapy to improve the alignment of the pelvis and whole vertebral column; 6 of the 14 cases (63%) showed remarkable improvement. We conclude that the primary reason of dropped head syndrome is unknown in Parkinson disease and cervical spondylosis, but also that many of the patients have secondary changes in alignment of the skeletomuscular system which could be treated with physiotherapy. PMID:23782820

Lin, Hsin-Ni; Nagaoka, Masanori; Hayashi, Yasuko; Yonezawa, Ikuho



Diagnosing and management of iatrogenic moderate and severe ovarian hyperstymulation syndrome (OHSS) in clinical material.  


Severe ovarian hyperstymulation syndrome is a rare but potentially life-threatening complication in patients undergoing assisted reproductive techniques (ART). The pathogenesis of this condition is likely to be multifactorial. The aim of the retrospective study was to present management in moderate and severe iatrogenic ovarian hyperstymulation syndrome (OHSS) in clinical material. The study group was 19 women, admitted to the Department of Obstetrics and Gynecology in Central Clinical Hospital of Ministry of Interior and Administration in Warsaw from large outpatient infertility center "Novum" in Warsaw with moderate and severe OHSS between 14.07.2004 and 8.11.2005. Laboratory tests and ultrasound examination of the ovarian size and ascites were performed, abdominal circumference was measured. Patients were treated with rehydration with intravenous crystalloids and colloids, diuretics, antibiotics, anticoagulants and ultrasound-guided paracentesis if symptoms of ascites become severe (ascites causes pain and compromised pulmonary function). Oral intake of water was restricted, monitoring of fluid intake and output, and daily monitoring of body weight was performed. During treatment controlled laboratory tests were done. In one patient occurred intra-abdominal hemorrhage from ovarian rupture and laparotomy with oophorectomy was performed. The ovarian hyperstimulation syndrome is still a difficult diagnostic and therapeutic problem and more studies are required to elucidate pathophysiology of OHSS. Because of still unknown etiology treatment is empirical and in most of cases bases on experience of medical team. Thus, the management in individual patients varies according to the severity of ovarian hyperstymulation syndrome and its complications. PMID:18292845

Jakimiuk, Artur J; Fritz, Anna; Grzybowski, Wojciech; Walecka, Irena; Lewandowski, Piotr



Small intestinal bacterial overgrowth is diagnosed in some cases of irritable bowel syndrome  

Microsoft Academic Search

Introduction: Irritable bowel syndrome (IBS) is a chronic gastrointestinal tract disfunction characterized by abdominal pain (or discomfort) and alteration in bowel movements. The etiology of presented symptoms despite numerous studies is unclear. Small intestinal bacterial overgrowth (SIBO) is one of potential factors causing symptoms of some gastrointe- stinal functional disorders. The aim of the study was to check whether SIBO

Agnieszka Meder


The head-up tilt test with haemodynamic instability score in diagnosing chronic fatigue syndrome  

Microsoft Academic Search

Summary Background: Studying patients with chronic fatigue syndrome (CFS), we have developed a method that uses a head-up tilt test (HUTT) to estimate BP and HR instability during tilt, expressed as a 'haemodynamic instability score' (HIS). Aim: To assess HIS sensitivity and specificity in the diagnosis of CFS. Design: Prospective controlled study. Methods: Patients with CFS (n= 40), non-CFS chronic




Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.  


Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. While hematopoietic stem cell transplantation is life saving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, only 2 patients with type 3 and about 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. However, none of these patients' clinical progresses were reported. We described here our two new type 1 and two type 3 patients along with the progresses of our previously diagnosed patients with GS types 1 and 3. Our previous patient with GS type I is alive at age 21 without any other problems except severe mental and motor retardation, patients with type 3 are healthy at ages 21 and 24 years having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS. PMID:22711375

Ca?da?, Deniz; Ozgür, Tuba Turul; Asal, Gülten Türkkan?; Tezcan, Ilhan; Metin, Ay?e; Lambert, Nathalie; de Saint Basile, Geneiveve; Sanal, Ozden



Eye feature extraction for diagnosing the facial phenotype associated with fetal alcohol syndrome  

Microsoft Academic Search

Victims of fetal alcohol syndrome (FAS) exhibit a unique facial phenotype that is emphasised in diagnosis. Among the characteristic\\u000a facial features, several occurring in the region of the orbits can be evaluated quantitatively using distance measurements.\\u000a An algorithm is described for automatic extraction and measurement of eye features from stereo photographs. The algorithm\\u000a was applied to photographs of 46 six-seven-year-old

T. S. Douglas; F. Martinez; E. M. Meintjes; C. L. Vaughan; D. L. Viljoen



Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis  

PubMed Central

Background and Aims Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (?1-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (Progressive Familial Intrahepatic Cholestasis type 1/PFIC1), ABCB11 (PFIC2), and ABCB4 (PFIC3). However, the large gene sizes and lack of mutational hotspots make it difficult to survey for disease-causing mutations in clinical practice. Here, we aimed to develop a technological tool that reads out the nucleotide sequence of these genes rapidly and accurately. Methods 25-mer nucleotide probes were designed to identify each base for all exons, 10 bases of intronic sequence bordering exons, 280–500 bases upstream from the first exon for each gene, and 350 bases of the second intron of the JAG1 gene, and tiled using the Affymetrix resequencing platform. We then developed high-fidelity PCRs to produce amplicons using 1 ml of blood from each subject; amplicons were hybridized to the chip, and nucleotide calls were validated by standard capillary sequencing methods. Results Hybridization of amplicons with the chip produced a high nucleotide sequence readout for all five genes in a single assay, with an automated call rate of 93.5% (range: 90.3–95.7%). The accuracy of nucleotide calls was 99.99% when compared with capillary sequencing. Testing the chip on subjects with cholestatic syndromes identified disease-causing mutations in SERPINA1, JAG1, ATP8B1, ABCB11 or ABCB4. Conclusion The resequencing chip efficiently reads SERPINA1, JAG1, ATP8B1, ABCB11 and ABCB4 with a high call rate and accuracy in one assay, and identifies disease-causing mutations.

Liu, Cong; Aronow, Bruce J.; Jegga, Anil G.; Wang, Ning; Miethke, Alex; Mourya, Reena; Bezerra, Jorge A.



Bortezomib-induced posterior reversible encephalopathy syndrome in a patient with newly diagnosed multiple myeloma.  


Posterior reversible encephalopathy syndrome (PRES) is a known but extremely rare side effect of bortezomib therapy. An unusual case of PRES possibly caused by bortezomib during induction treatment in a patient with multiple myeloma is reported. The patient experienced neither hypertensive crisis nor uremic encephalopathy at the onset of PRES, which are both well-known etiologies of PRES. The patient's PRES-related symptoms resolved completely after discontinuation of bortezomib and administration of a bulk dose of corticosteroids. The importance of early recognition of this potential neurological complication must be emphasized because this new drug is being increasingly prescribed. PMID:23291684

Oshikawa, Gaku; Kojima, Akira; Doki, Noriko; Kobayashi, Takeshi; Kakihana, Kazuhiko; Tsuda, Hiromasa; Endo, Ikuyo; Kamata, Noriko; Ohashi, Kazuteru; Sakamaki, Hisashi



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

PubMed Central

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.

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



Abdominal compartment syndrome - Intra-abdominal hypertension: Defining, diagnosing, and managing  

PubMed Central

Abdominal compartment syndrome (ACS) and intra-abdominal hypertension (IAH) are increasingly recognized as potential complications in intensive care unit (ICU) patients. ACS and IAH affect all body systems, most notably the cardiac, respiratory, renal, and neurologic systems. ACS/IAH affects blood flow to various organs and plays a significant role in the prognosis of the patients. Recognition of ACS/IAH, its risk factors and clinical signs can reduce the morbidity and mortality associated. Moreover, knowledge of the pathophysiology may help rationalize the therapeutic approach. We start this article with a brief historic review on ACS/IAH. Then, we present the definitions concerning parameters necessary in understanding ACS/IAH. Finally, pathophysiology aspects of both phenomena are presented, prior to exploring the various facets of ACS/IAH management.

Papavramidis, Theodossis S; Marinis, Athanasios D; Pliakos, Ioannis; Kesisoglou, Isaak; Papavramidou, Nicki



Chemotherapy in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or Advanced Myelodysplastic Syndrome

Adult Acute Megakaryoblastic Leukemia (M7); Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Erythroleukemia (M6a); Adult Pure Erythroid Leukemia (M6b); de Novo Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia



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

PubMed Central

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.

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



Sudden infant death syndrome in Korea: a retrospective analysis of autopsy-diagnosed cases.  


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

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



Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.  


Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes can be distinguished by intermediate metabolite levels, and a definitive diagnosis relies on the presence of deleterious mutations in the causative genes. Mutations and unclassified variants were identified in 41 unrelated patients, and 22 of these mutations were novel. Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay. Furthermore, the urine creatine:creatinine ratio is an effective screening test with 100% specificity in males suspected of having creatine transporter deficiency. This test has a high false-positive rate due to dietary factors or dilute urine samples and lacks sensitivity in females. We conclude that biochemical screening for plasma GAA and measuring of the urine creatine:creatinine ratio should be performed for suspected CCDS patients prior to sequencing. Also, based on the results of this study, we feel that sequencing should only be considered if a patient has abnormal biochemical results on repeat testing. PMID:23660394

Comeaux, Matthew S; Wang, Jing; Wang, Guoli; Kleppe, Soledad; Zhang, Victor Wei; Schmitt, Eric S; Craigen, William J; Renaud, Deborah; Sun, Qin; Wong, Lee-Jun



Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics.  


POTS (postural tachycardia syndrome) is characterized by an increased heart rate (?HR) of ?30 bpm (beats/min) with symptoms related to upright posture. Active stand (STAND) and passive head-up tilt (TILT) produce different physiological responses. We hypothesized these different responses would affect the ability of individuals to achieve the POTS HR increase criterion. Patients with POTS (n=15) and healthy controls (n=15) underwent 30 min of tilt and stand testing. ?HR values were analysed at 5 min intervals. ROC (receiver operating characteristic) analysis was performed to determine optimal cut point values of ?HR for both tilt and stand. Tilt produced larger ?HR than stand for all 5 min intervals from 5 min (38±3 bpm compared with 33±3 bpm; P=0.03) to 30 min (51±3 bpm compared with 38±3 bpm; P<0.001). Sn (sensitivity) of the 30 bpm criterion was similar for all tests (TILT10=93%, STAND10=87%, TILT30=100%, and STAND30=93%). Sp (specificity) of the 30 bpm criterion was less at both 10 and 30 min for tilt (TILT10=40%, TILT30=20%) than stand (STAND10=67%, STAND30=53%). The optimal ?HR to discriminate POTS at 10 min were 38 bpm (TILT) and 29 bpm (STAND), and at 30 min were 47 bpm (TILT) and 34 bpm (STAND). Orthostatic tachycardia was greater for tilt (with lower Sp for POTS diagnosis) than stand at 10 and 30 min. The 30 bpm ?HR criterion is not suitable for 30 min tilt. Diagnosis of POTS should consider orthostatic intolerance criteria and not be based solely on orthostatic tachycardia regardless of test used. PMID:22931296

Plash, Walker B; Diedrich, André; Biaggioni, Italo; Garland, Emily M; Paranjape, Sachin Y; Black, Bonnie K; Dupont, William D; Raj, Satish R



Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies.  


Over the past 9 years we counseled 55 couples whose unborn child was found to carry a sex chromosome polysomy. We performed a survey of postcounseling parental decisions about continuation or termination of these pregnancies. Of the 55 embryos or fetuses, 23 had the karyotype 47,XXY, 10 had 47,XYY, and 12 had 47,XXX. In addition, there were 10 instances of true mosaicism, i.e. 47,XXY/46,XY (n = 5), 47,XYY/46,XY (n = 2), or 47,XXX/46,XX (n = 3). Mean gestational age (+/-standard deviation) at diagnosis was 18.3+/-3.0 weeks. After comprehensive genetic counseling 48 (87.3%) of these pregnancies were carried to term. In seven cases (12.7%) the parents elected a pregnancy termination. Two of 31 pregnancies (6.5%) primarily ascertained at our center were aborted, whereas amongst the 24 referred cases, 5 couples (20.8%) opted for a termination. The mean gestational age of the terminated pregnancies was 19.7 weeks. The overall termination rate of 12.7% appears low in comparison with literature data. Most reports from other institutions present termination rates between 32 and 66%. The reason for the low rate of induced abortions in our study cohort is not clear. Cultural differences in parental perception of sex chromosomal polysomies may be of importance, and peculiarities of genetic counseling at our institution could also play a role. Although counseling was nondirective, we did put emphasis on providing prospective parents with information from unbiased follow-up studies of children with Klinefelter syndrome and other sex chromosome polysomies. PMID:9856559

Meschede, D; Louwen, F; Nippert, I; Holzgreve, W; Miny, P; Horst, J



[What to improve in approach to diagnose and treat pediatric myelodysplastic syndromes and juvenile myelomonocytic leukemia in Poland?].  


Group of heterogeneous clonal hematopoietic disorders usually associated with other genetic disorders called for myelodysplastic syndromes (MDS) are occurring less common in children. The WHO classification based on French-American-British (FAB) MDS morphology is widely accepted in adults but does substantially differe from the one applicable in children. The differencies have recently been published. In our national retrospective study we analyzed 99 children with MDS and JMML diagnosed between 1989 and 2003 in Poland. Chemotherapy is generally, not useful in childhood MDS. With a few exceptions hematopoieitic stem cell transplantation (HSCT) is the only curative treatment for children with MDS. In this nationalexperience use of a relative or an unrelated donor results are almost comparable to the internationally published ones. Successful management of the disease needs to be run on a basis of cooperative efforts between clinicians and scientists involved in pediatric MDS. This includes need for centralized update and morphologic re-evaluation of all patients in the country as well as appointments on a regular basis for all individuals involved in treatment of MDS for quality control. PMID:16892896

Wójcik, Dorota; Pietras, Wojciech; Ussowicz, Marek; Chybicka, Alicja



Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis are malformation syndromes with cognitive deficits caused by mutations of 7-dehydrocholesterol reductase (DHCR7) and lathosterol 5-desaturase (SC5D), respectively. DHCR7 encodes the last enzyme in the Kandutsch-Russel cholesterol biosynthetic pathway, and impaired DHCR7 activity leads to a deficiency of cholesterol and an accumulation of 7-dehydrocholesterol. SC5D catalyzes the synthesis of 7-dehydrocholesterol from lathosterol. Impaired SC5D activity leads to a similar deficiency of cholesterol but an accumulation of lathosterol. Although the genetic and biochemical causes underlying both syndromes are known, the pathophysiological processes leading to the developmental defects remain unclear. To study the pathophysiological mechanisms underlying SLOS and lathosterolosis neurological symptoms, we performed quantitative proteomics analysis of SLOS and lathosterolosis mouse brain tissue and identified multiple biological pathways affected in Dhcr7?3–5/?3–5 and Sc5d?/? E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Comparison of proteome alterations in both Dhcr7?3–5/?3–5 and Sc5d?/? brain tissues helps elucidate whether perturbed protein expression was due to decreased cholesterol or a toxic effect of sterol precursors. Validation of the proteomics results confirmed increased expression of isoprenoid and cholesterol synthetic enzymes. This alteration of isoprenoid synthesis may underlie the altered posttranslational modification of Rab7, a small GTPase that is functionally dependent on prenylation with geranylgeranyl, that we identified and validated in this study. These data suggested that although cholesterol synthesis is impaired in both Dhcr7?3–5/?3–5 and Sc5d?/? embryonic brain tissues the synthesis of nonsterol isoprenoids may be increased and thus contribute to SLOS and lathosterolosis pathology. This proteomics study has provided insight into the pathophysiological mechanisms of SLOS and lathosterolosis, and understanding these pathophysiological changes will help guide clinical therapy for SLOS and lathosterolosis.

Jiang, Xiao-Sheng; Backlund, Peter S.; Wassif, Christopher A.; Yergey, Alfred L.; Porter, Forbes D.



Scimitar syndrome and azygos continuation of the inferior vena cava diagnosed in an adult--an unusual association.  


Anormal drainage of the pulmonary veins into the inferior vena cava is known as scimitar syndrome. Scimitar syndrome often presents during infancy and rarely during adulthood, and the adult patients are mostly asymptomatic. It is usually in association with dextrocardia, hypoplasia of right lung, and congenital heart defects. However, interruption of inferior vena cava with azygous continuation is rarely associated with this syndrome. PMID:22469461

Celik, Murat; Celik, Turgay; Iyisoy, Atila; Ayten, Omer



Photo-conversion of two epimers (20R and 20S) of pregna-5,7-diene-3?,17?,20-triol and their bioactivity in melanoma cells  

PubMed Central

Pregna-5,7-dienes and their hydroxylated derivatives can be formed in vivo when there is a deficiency in 7-dehydrocholesterol (7-DHC) ?-reductase function, e.g., Smith-Lemli-Opitz syndrome (SLOS). Ultraviolet B (UVB) radiation induces photoconversion of 7-DHC to vitamin D3, lumisterol3 and tachysterol3. Two epimers (20R and 20S) of pregna-5,7-diene-3?,17?,20-triol (4R and 4S, respectively) were synthesized and their UVB photo-conversion products identified as corresponding 9,10-secosteroids with vitamin D-like and tachysterol-like structures, and 5,7-dienes with inverted configuration at C-9 and C-10 (lumisterol-like). The number and character of the products and the dynamics of the process were dependent on the UVB dose. At high UVB doses, the formation of multiple oxidized derivatives of the primary products, and the formation of 5,7,9(11)-triene, were observed. The production of vitamin D-like, tachysterol-like and luminosterol-like derivatives was also observed in human skin treated with 4R and 4S, and subjected to UV irradiation, as shown by RP-HPLC. Newly synthesized compounds inhibited melanoma growth in dose dependent manner, and some of them showed equal or higher potency than 1,25(OH)2D3. In summary, we have characterized for the first time the products of UV induced conversion of pregna-5,7-diene-3?,17?,20-triols and documented that the newly synthesized compounds have antiproliferative properties against melanoma cells.

Zmijewski, Michal A.; Li, Wei; Zjawiony, Jordan K.; Sweatman, Trevor W.; Chen, Jianjun; Miller, Duane D.; Slominski, Andrzej T.



Oxysterols from Free Radical Chain Oxidation of 7-Dehydrocholesterol: Product and Mechanistic Studies  

PubMed Central

Free radical chain oxidation of highly oxidizable 7-dehydrocholesterol (7-DHC) initiated by 2,2?-azobis(4-methoxy-2,4-dimethylvaleronitrile) was carried out at 37°C in benzene for 24 hours. Fifteen oxysterols derived from 7-DHC were isolated and characterized with 1D- and 2D-NMR spectroscopy and mass spectrometry. A mechanism that involves abstraction of hydrogen atoms at C-9 and/or C-14 is proposed to account for the formation of all of the oxysterols and the reaction progress profile. In either the H-9 or H-14 mechanism, a pentadienyl radical intermediate is formed after abstraction of H-9 or H-14 by a peroxyl radical. This step is followed by the well-precedented transformations observed in peroxidation reactions of polyunsaturated fatty acids such as oxygen addition, peroxyl radical 5-exo cyclization, and SHi carbon radical attack on the peroxide bond. The mechanism for peroxidation of 7-DHC also accounts for the formation of numerous oxysterol natural products isolated from fungal species, marine sponges, and cactaceous species. In a cell viability test, the oxysterol mixture from 7-DHC peroxidation was found to be cytotoxic to Neuro2a neuroblastoma cells in the micromolar concentration range. We propose that the high reactivity of 7-DHC and the oxysterols generated from its peroxidation may play important roles in the pathogenesis of Smith-Lemli-Opitz syndrome (SLOS), X-linked dominant chondrodysplasia punctata (CDPX2), and cerebrotendinous xanthomatosis (CTX), all of these being metabolic disorders having an elevated level of 7-DHC.

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



Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency in the terminal step of cholesterol biosynthesis: the conversion of 7-dehydrocholesterol (7DHC) to cholesterol (C), catalyzed by 7-dehydrocholesterol reductase (DHCR7). This disorder exhibits several phenotypic traits including dysmorphia and mental retardation with a broad range of severity. There are few proven treatment options. That most commonly used is a high cholesterol diet that seems to enhance the quality of life and improve behavioral characteristics of patients, although these positive effects are controversial. The goal of our study was to investigate the possibility of restoring DHCR7 activity by gene transfer. We constructed an adeno-associated virus (AAV) vector containing the DHCR7 gene. After we infused this vector into affected mice, the introduced DHCR7 gene could be identified in liver, mRNA was expressed and a functional enzyme was produced. Evidence of functionality came from the ability to partially normalize the serum ratio of 7DHC/C in treated animals, apparently by increasing cholesterol production with concomitant decrease in 7DHC precursor. By five weeks after treatment the mean ratio (for 7 animals) had fallen to 0.05 while the ratio for untreated littermate controls had risen to 0.14. This provides proof of principle that gene transfer can ameliorate the genetic defect causing SLOS and provides a new experimental tool for studying the pathogenesis of this disease. If effective in humans, it might also offer a possible alternative to exogenous cholesterol therapy. However, it would not offer a complete cure for the disorder as many of the negative implications of defective synthesis are already established during prenatal development.

Matabosch, Xavier; Ying, Lee; Serra, Montserrat; Wassif, Christopher A.; Porter, Forbes D.; Shackleton, Cedric; Watson, Gordon



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

PubMed Central

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.

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



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

PubMed Central

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 could be abrogated by selective transgenic complementation with DHCR7 expression in the liver. Results We generated mice that carried a liver-specific human DHCR7 transgene whose expression was driven by the human apolipoprotein E (ApoE) promoter and its associated liver-specific enhancer. These mice were then crossed with Dhcr7+/- mutants to generate Dhcr7-/- mice bearing a human DHCR7 transgene. Robust hepatic transgene expression resulted in significant improvement of cholesterol homeostasis with cholesterol concentrations increasing to 80~90 % of normal levels in liver and lung. Significantly, cholesterol deficiency in brain was not altered. Although late gestational lung sacculation defect reported previously was significantly improved, there was no parallel increase in postnatal survival in the transgenic mutant mice. Conclusion The reconstitution of DHCR7 function selectively in liver induced a significant improvement of cholesterol homeostasis in non-brain tissues, but failed to rescue the neonatal lethality of Dhcr7 null mice. These results provided further evidence that CNS defects caused by Dhcr7 null likely play a major role in the lethal pathogenesis of Dhcr7-/- mice, with the peripheral organs contributing the morbidity.

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



Peer victimization in adolescents and young adults diagnosed with Asperger's Syndrome: a link to depressive symptomatology, anxiety symptomatology and suicidal ideation.  


The present exploratory study examined the level of peer victimization, depressive symptomatology, anxiety symptomatology, and level of suicidal ideation among adolescents and young adults diagnosed with Asperger's Syndrome (AS). This cross-sectional study used a self-administrated mail questionnaire and a Web-based questionnaire. The study included two samples. The first sample used snowball sampling, beginning with parents of adolescents and young adults diagnosed with AS who participated in a qualitative study conducted in 2002. The second sample consisted of a volunteer sample of parents who accessed Web sites for parents and individuals diagnosed with Autism Spectrum Disorder. A total sample of 10 adolescents and young adults diagnosed with AS was obtained. The high proportion of respondents with scores above the cutoff point on the overt victimization and relational victimization scales suggests that these adolescents and young adults experienced high levels of victimization. Of the sample, 20 percent met criteria for a diagnosis of Major Depressive Disorder, 30 percent met criteria for Generalized Anxiety Disorder and 50 percent had clinically significant level of suicidal ideation. PMID:17885828

Shtayermman, Oren


Management of Men Diagnosed With Chronic Prostatitis/Chronic Pelvic Pain Syndrome Who Have Failed Traditional Management  

PubMed Central

For many patients, the traditional biomedical model that physicians have used to manage chronic prostatitis does not work. This article describes innovative treatment strategies for chronic prostatitis/chronic pelvic pain syndrome, with an emphasis on novel biomedical physical therapy and biopsychosocial approaches to the management of individualized patient symptoms.

Curtis Nickel, J; Baranowski, Andrew P; Pontari, Michel; Berger, Richard E; Tripp, Dean A



Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature  

PubMed Central

Introduction Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms. Only one case of Burkitt's lymphoma presenting with toothache, paresthesia, and Horner's syndrome has been described and no case reports of diffuse large B-cell lymphoma as the etiology of Horner's syndrome currently exist in the literature. In addition, lymphoid neoplasms have rarely been reported to occur in patients with neurofibromatosis type 1 despite an increased risk of many types of cancer in such cases. Case presentation A 28-year-old Thai man presented with a progressively enlarged left supraclavicular mass together with a significant weight loss and night sweating for four months. He also noticed hoarseness and ptosis of his left eye associated with double vision for two months. Physical examination revealed large supraclavicular lymphadenopathy and Horner's syndrome (ptosis, miosis, and anhydrosis) on the left side of his face. A large mediastinal mass was clearly detected by chest X-ray and computed tomography and subsequent lymph node biopsy provided a diagnosis of diffuse large B-cell lymphoma. Interestingly, the patient was also definitely diagnosed with neurofibromatosis type 1 from multiple café au lait macules, axillary freckles, three neurofibromas, multiple Lisch nodules, and a history of affected family members. He subsequently received chemotherapy with a good response. Twenty-seven cases of various types of lymphoid neoplasms previously reported to occur in neurofibromatosis type 1 patients were also extracted from the literature. All cases were non-Hodgkin lymphoma and the major subtype was T-cell. Only nine cases were B-cell lymphoma. The majority of cases were young with a median age at lymphoma diagnosis of 9.4 years (range 1.1 to 77 years). Two-thirds of the cases were boys or men. Other concomitant malignancies were brain tumor, colorectal cancer, pheochromocytoma, and acute lymphoblastic leukemia. Conclusions We describe for the first time a case of diffuse large B-cell lymphoma that occurred in a neurofibromatosis type 1 patient with Horner's syndrome. Horner's syndrome can be an initial manifestation of diffuse large B-cell lymphoma. Patients who present with a classical triad of Horner's syndrome should always be fully investigated for lymphomatous involvement, especially in the thorax. The exact molecular mechanism for diffuse large B-cell lymphoma development in neurofibromatosis type 1 cases remains to be elucidated.



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

PubMed Central

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.

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



An inflection point in gene discovery efforts for neurodegenerative diseases: from syndromic diagnoses toward endophenotypes and the epigenome.  


We are at an inflection point in our study of the human genome as it relates to neurodegenerative disease. The sequencing of the human genome, and its associated cataloging of human genetic variation and technological as well as methodological development, introduced a period of rapid gene discovery over the past decade. These efforts have yielded many new insights and will continue to uncover the genetic architecture of syndromically defined neurodegenerative diseases in the coming decades. More recently, these successful study designs have been applied to the investigation of intermediate traits that relate to and inform our understanding of clinical syndromes and to exploration of the epigenome, the higher-order structure of DNA that dictates the expression of a given genetic risk factor. While still nascent, given the challenges of accumulating large numbers of subjects with detailed phenotypes and technological hurdles in characterizing the state of chromatin, these efforts represent key investments that will enable the study of the functional consequences of a genetic risk factor and, eventually, its contribution to the clinical manifestations of a given disease. As a community of investigators, we are therefore at an exciting inflection point at which gene discovery efforts are transitioning toward the functional characterization of implicated genetic variation; this transition is crucial for understanding the molecular, cellular, and systemic events that lead to a syndromic diagnosis for a neurodegenerative disease. PMID:23571780

De Jager, Philip L; Bennett, David A



An Exploratory Study of the Stigma Associated With a Diagnosis of Asperger's Syndrome: The Mental Health Impact on the Adolescents and Young Adults Diagnosed With a Disability With a Social Nature  

Microsoft Academic Search

The purpose of this exploratory study was to examine how adolescents and young adults diagnosed with Asperger's syndrome (AS) perceived their diagnosis and whether they feel stigmatized. The study also examined how stigma is related to mental health diagnoses (major depressive disorder, generalized anxiety disorder). A cross-sectional study using a self-administrated mail questionnaire and a Web-based questionnaire were used to

Oren Shtayermman



Mental Health Diagnoses In Patients with Interstitial Cystitis/ Painful Bladder Syndrome and Chronic Prostatitis/ Chronic Pelvic Pain Syndrome: A Case/Control Study  

PubMed Central

Purpose To compare the rate of mental health disorders in male and female pelvic pain patients and control subjects. Materials and Methods Male patients with chronic prostatitis/ chronic pelvic pain syndrome (CP/CPPS) (n=174) and female patients with interstitial cystitis/ painful bladder syndrome (IC/PBS) (n=111) were identified from a urology tertiary care clinic population. A control group consisting of 72 men and 175 women was also recruited. Subjects completed self-administered questionnaires that included items about demographics, medical history, medication use, and urologic symptoms. The Patient Health Questionnaire was used to identify depression and panic disorder. Multiple logistic regression was used to determine odds ratios (OR) for the presence of a mental health diagnosis. Results Mental health disorders were identified in 13% of the CP/CPPS cases and 4% of male controls (OR 2.0, p = 0.04), and in 23% of IC/PBS cases and 3% of female controls (OR 8.2, p<.0001). Disease status (case vs. control) (OR 10.4, p=0.001) and income > $50,000 (OR 0.34, p=0.008) were the only two variables independently predictive of the presence of a mental health diagnosis. Age, gender, race/ethnicity, and education were not predictive. Medications for anxiety, depression or stress were being taken by 18% of CP/CPPS patients, 37% of IC/PBS patients, 7% of male controls, and 13% of female controls. Conclusions Depression and panic disorder are significantly more common in men and women with pelvic pain conditions than in controls. Medication use data suggest that anxiety and depression may be more difficult to treat in patients with urologic pain syndromes than in controls.

Clemens, J. Quentin; Brown, Sheila O.; Calhoun, Elizabeth A.



Getting Diagnosed  


... in some cases. For individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule ... that you or a family member may have Marfan syndrome or a related disorder, we recommend that ... a health history Reach out for information and support


Discrepancy between clinical criteria for diagnosing acute respiratory distress syndrome secondary to community acquired pneumonia with autopsy findings of diffuse alveolar damage.  


Diffuse alveolar damage (DAD) is the underlying pathological finding in most cases of acute respiratory distress syndrome (ARDS). The objective of this study was to compare clinical criteria for ARDS secondary to community acquired pneumonia with autopsy findings of DAD and to determine the discrepancy rate between the two. We compared prospectively obtained clinical diagnosis of ARDS secondary to community acquired pneumonia with autopsy findings of DAD and pneumonia. Forty nine patients dead with a clinical diagnosis of ARDS secondary to pneumonia who underwent autopsy between 1986 and 2004 in our ICU were included with systematic histopathological analysis of all lung lobes. The discrepancy rate between the premortem clinical diagnosis of ARDS secondary to pneumonia and DAD at autopsy was determined. Seven patients were found to have neither infection nor DAD at autopsy. Six patients showed pathologic signs of DAD without evidence of infection. Out of 38 patients meeting clinical criteria for ARDS secondary to pneumonia and proven pneumonia at autopsy, 25 met criteria for DAD at autopsy. Therefore, 18 out of 49 patients who were clinically diagnosed with ARDS did not actually show pathological signs of DAD, resulting in a discrepancy rate of 37%. Despite an acceptable correspondence between clinical criteria for ARDS secondary to pneumonia and autopsy findings of DAD a significant number of patients had neither signs of DAD nor infection. PMID:21570273

Sarmiento, Xavier; Guardiola, Juan J; Almirall, Jordi; Mesalles, Eduard; Mate, Jose Luis; Soler, Manuel; Klamburg, Jordi



A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analyses of various cells obtained from the patient.  


A pregnant woman was referred to our hospital at the 29th week of gestation with the symptom of polyhydramnios; diaphragmatic herniation of the fetus was suspected. Fetal chromosome anlaysis was performed using fibroblasts obtained by aminocentesis, and mosaicism of 46,XX and isochromosome of 12p were diagnosed. Out of 50 karyotyped cells, 19 (38.0%) showed the tetrasomy of the isochromosome of 12p. The mother vaginally delivered a baby girl who died just after delivery. The analysis of cord blood lymphocytes revealed only 0.5% incidence of tetrasomy of 12p. The incidence of tetrasomy was 8.0% for the placental chorionic villi, 48.0% for the fibroblasts obtained from the umbilical cord, and 70.0% for the skin fibroblasts. Thus, the diagnosis of Pallister-Killian Syndrome (PKS) is confirmed by mosaicism of i(12p), that is, the affected patients exhibit tissue-specific mosaicism, with the abnormal karyotype expression in limited lymphocytes, but marked in fibroblasts. PMID:9605253

Takakuwa, K; Hataya, I; Arakawa, M; Tamura, M; Sekizuka, N; Tanaka, K



Fatal Nocardia farcinica Bacteremia Diagnosed by Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry in a Patient with Myelodysplastic Syndrome Treated with Corticosteroids  

PubMed Central

Nocardia farcinica is a Gram-positive weakly acid-fast filamentous saprophytic bacterium, an uncommon cause of human infections, acquired usually through the respiratory tract, often life-threatening, and associated with different clinical presentations. Predisposing conditions for N. farcinica infections include hematologic malignancies, treatment with corticosteroids, and any other condition of immunosuppression. Clinical and microbiological diagnoses of N. farcinica infections are troublesome, and the isolation and identification of the etiologic agent are difficult and time-consuming processes. We describe a case of fatal disseminated infection in a patient with myelodysplastic syndrome, treated with corticosteroids, in which N. farcinica has been isolated from blood culture and identified by Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry. The patient died after 18 days of hospitalization in spite of triple antimicrobial therapy. Nocardia farcinica infection should be suspected in patients with history of malignancy, under corticosteroid therapy, suffering from subacute pulmonary infection,and who do not respond to conventional antimicrobial therapy. Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry can be a valuable tool for rapid diagnosis of nocardiosis.

Moretti, Amedeo; Guercini, Francesco; Cardaccia, Angela; Furbetta, Leone; Agnelli, Giancarlo; Bistoni, Francesco; Mencacci, Antonella



Carcinoid syndrome diagnosed by echocardiography.  


Right heart failure is a common presentation to both general physicians and cardiologists. Echocardiography is a useful investigation, and usually imaging of the liver is confined to helping estimate the right atrial pressure. We report a case of right heart failure where incidental imaging of the liver architecture during transoesophageal echocardiography helped in establishing the final diagnosis. PMID:19217173

Garg, Scot; Bourantas, Christos V; Nair, Rajesh K; Alamgir, Farqad



Diffuse large B-cell lymphoma (Richter syndrome) in patients with chronic lymphocytic leukaemia (CLL): a cohort study of newly diagnosed patients.  


Nearly all information about patients with chronic lymphocytic leukaemia (CLL) who develop diffuse large B-cell lymphoma [Richter syndrome (RS)] is derived from retrospective case series or patients treated on clinical trials. We used the Mayo Clinic CLL Database to identify patients with newly diagnosed CLL between January 2000 and July 2011. Individuals who developed biopsy-proven RS during follow-up were identified. After a median follow-up of 4 years, 37/1641 (2·3%) CLL patients developed RS. The rate of RS was approximately 0·5%/year. Risk of RS was associated with advanced Rai stage at diagnosis (P < 0·001), high-risk genetic abnormalitites on fluorescence in situ hybridization (P < 0·0001), unmutated IGHV (P = 0·003), and expression of ZAP70 (P = 0·02) and CD38 (P = 0·001). The rate of RS doubled in patients after treatment for CLL (1%/year). Stereotyped B-cell receptors (odds-ratio = 4·2; P = 0·01) but not IGHV4-39 family usage was associated with increased risk of RS. Treatment with combination of purine analogues and alkylating agents increased the risk of RS three-fold (odds-ratio = 3·26, P = 0·0003). Median survival after RS diagnosis was 2·1 years. The RS prognosis score stratified patients into three risk groups with median survivals of 0·5 years, 2·1 years and not reached. Both underlying characteristics of the CLL clone and subsequent CLL therapy influence the risk of RS. Survival after RS remains poor and new therapies are needed. PMID:23841899

Parikh, Sameer A; Rabe, Kari G; Call, Timothy G; Zent, Clive S; Habermann, Thomas M; Ding, Wei; Leis, Jose F; Schwager, Susan M; Hanson, Curtis A; Macon, William R; Kay, Neil E; Slager, Susan L; Shanafelt, Tait D



Turcot Syndrome  


... with Turcot syndrome have multiple adenomatous colon polyps (polyps in the colon made up of cells that form mucous), an ... Turcot syndrome diagnosed? A person with multiple adenomatous colon polyps and/or colorectal cancer , along with either glioblastoma ...


Diagnosing depression  

PubMed Central

OBJECTIVE To explore and describe primary care physicians’ experiences in providing care to depressed patients and to increase understanding of the possibilities and constraints around diagnosing and treating depression in primary care. DESIGN Qualitative study using personal interviews. SETTING A hospital region in eastern Canada. PARTICIPANTS A purposely diverse sample of 20 physicians chosen from among all 100 practising family physicians in the region. METHOD Invitations were mailed to all physicians practising in the region. Twenty physicians were chosen from among the 39 physicians responding positively to the invitation. Location of practice, sex, and year of graduation from medical school were used as sampling criteria. The 20 physicians were then interviewed, and the interviews were audiotaped and transcribed verbatim. Data were analyzed using a constant comparative approach involving handwritten notes on transcripts and themes created using qualitative data analysis software. MAIN FINDINGS Three themes related to diagnosis emerged. The first concerns use of checklists. Physicians said they needed an efficient but effective means of diagnosing depression and often used diagnostic aids, such as checklists. Some physicians, however, were reluctant to use such aids. The second theme, interpersonal processes, involved the investment of time needed for diagnosing depression and the importance of establishing rapport. The final theme, intuition, revealed how some physicians relied on “gut sense” and years of experience to make a diagnosis. CONCLUSION Diagnosis of depression by primary care physicians involves a series of often complicated negotiations with patients. Such negotiations require expertise gained through experience, yet prior research has not recognized the intricacies of this diagnostic process. Our findings suggest that future research must recognize the complex and multidisciplinary nature of physicians’ approaches to diagnosis of depression in order to better reflect how they practise.

Thomas-MacLean, Roanne; Stoppard, Janet; Miedema, Baukje (Bo); Tatemichi, Sue



Effective induction therapy with subcutaneous administration of bortezomib for newly diagnosed POEMS syndrome: a case report and a review of the literature.  


POEMS syndrome is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. Bortezomib is an important component of the chemotherapy regimen associated with multiple myeloma, and has been previously applied to POEMS syndrome. We present a 56-year-old Chinese man who was given subcutaneous administration of bortezomib as part of the BDex (bortezomib-dexamethasone) regimen for his POEMS syndrome. The peripheral neuropathy and laboratory-test results of the patient improved dramatically with 4 cycles of treatment, resulting in a complete response. In addition, the treatment was well tolerated and adequate peripheral blood hematopoietic stem cells were collected for an ensuing autologous stem cell transplant. PMID:23171959

Zeng, Ke; Yang, Jin-rong; Li, Jun; Wei, Qing; Yang, Yi-ming; Liu, Ting; Niu, Ting



[Mannequin syndrome].  


Describe since the beginning of the fifties, the mannequin syndrome consists of anorexia, amenorrhea and swelling of the parotid glands. This variety of symptoms is usually found in young female patients who want to remain thin. In fact, this syndrome has been several times diagnosed in fashion models or airhostesses;hence the term "mannequin syndrome". PMID:3799184

Cosins, J M; Frederickx, Y; Yousif, A; Hamoir, M; Van den Eeckhaut, J



A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.  


During infancy, this 50-year-old man with a previously undiagnosed multiple congenital anomalies/intellectual disability (MCA/MR) syndrome had grossly symptomatic hypercalcemia and was (briefly) thought to have Williams syndrome. Results of studies with the cytogenetic methods of the 1960s and 1970s were apparently normal. He matured late, but is high-functioning and healthy. Over 50 years he remained a diagnostic enigma. Thus, it came as a surprise when recent high-resolution banding methods showed an abnormality of the terminal portion of 13q, determined on array-comparative genomic hybridization to constitute an unbalanced chromosome rearrangement with a 0.35?Mb loss of 13q34-ter and 7.67?Mb gain of 14q32.2q32.33 translocated to 13q34. This apparently de novo genomic abnormality must be presumed as the cause of this previously undescribed MCA/MR syndrome which, however, may remain a private syndrome in this family. Williams syndrome was ruled out, and presently it is not possible to ascribe this patient's severely symptomatic infantile hypercalcemia to any gene on the deleted or duplicated chromosome segments. This "case" does underscore the importance of re-studying previously obscure but evidently genetic conditions, of long-term follow-up and documentation of natural history, and of providing, at last, a causal explanation to the family. PMID:21595000

Pallister, Philip D; Pallister, Adam B; South, Sarah; Toydemir, Reha; Johnson, John P; Beischel, Linda; Opitz, John M



Mayer-Rokitansky-Kuster-Hauser Syndrome diagnosed by Magnetic Resonance Imaging. Role of Imaging to identify and evaluate the uncommon variation in development of the female genital tract  

PubMed Central

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a spectrum of Müllerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting otherwise with normal endocrine status. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women. Its penetrance varies, as does the involvement of other organ systems and itcan be isolated (type I) or associated with other malformations (type II). The MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal development of secondary sexual characteristics, so imaging evaluation can demonstrate in one setting, non invasively, the anomalies in development of genital tract. We report a case of MRKH syndrome in a 16-year-old woman who presented with primary amenorrhea, stressing the role and benefit of imaging in the differential diagnosis.

Fiaschetti, Valeria; Taglieri, Amedeo; Gisone, Vito; Coco, Irene; Simonetti, Giovanni



Spontaneous posterior fossa hemorrhage associated with low-molecular weight heparin in an adolescent recently diagnosed with posterior reversible encephalopathy syndrome: case report and review of the literature  

Microsoft Academic Search

Background  Posterior reversible encephalopathy syndrome (PRES) constitutes a well-described clinical entity, classically entailing characteristic edematous lesions on imaging studies in a patient with altered mental status, visual disturbances, headache, and seizures. PRES is reversible in the vast majority of cases, although progression to ischemia and hemorrhage has been documented.Methods  We report a case of a 16-year-old male with chronic renal failure who

Theofilos G. Machinis; Kostas N. Fountas; Vassilios G. Dimopoulos; E. Christopher Troup



Clofarabine, Cytarabine, and Filgrastim in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia, Advanced Myelodysplastic Syndrome, and/or Advanced Myeloproliferative Neoplasm

Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia With Excess Blasts; Untreated Adult Acute Myeloid Leukemia; Myeloproliferative Neoplasm With 10% Blasts or Higher



Another case of "European hantavirus pulmonary syndrome" with severe lung, prior to kidney, involvement, and diagnosed by viral inclusions in lung macrophages.  


Puumala virus (PUUV) is considered a classic Old World etiologic agent of nephropathia epidemica (NE), or hemorrhagic fever with renal syndrome (HFRS). HFRS is considered to be distinct from hantavirus (cardio-)pulmonary syndrome (HPS or HCPS), described in the New World. Here, we report a severe case, which fulfilled most, if not all, Centers for Disease Control and Prevention (CDC) criteria for HPS, needing non-invasive ventilation and subsequent acute hemodialysis. However, the etiological agent was PUUV, as proved by serological testing, real-time polymerase chain reaction (PCR), and sequencing. Viral antigen was detected by specific anti-PUUV immunostaining, showing, for the first time, greenish intracytoplasmic inclusions in bronchoalveolar lavage (BAL) macrophages. This case definitely confirms that HPS can be encountered during PUUV infections. Interestingly, special findings could render the diagnosis easier, such as greenish homogeneous cytoplasmic inclusions, surrounded by a fine clear halo in BAL macrophages. Therefore, although the diagnosis remains difficult before the onset of renal involvement, the occurrence of severe respiratory failure mimicking community-acquired pneumonia must alert the clinician for possible HPS, especially in endemic areas. PMID:23670277

Gizzi, M; Delaere, B; Weynand, B; Clement, J; Maes, P; Vergote, V; Laenen, L; Hjelle, B; Verroken, A; Dive, A; Michaux, I; Evrard, P; Creytens, D; Bulpa, P



Gardner Syndrome  


... in many different organs, such as: Multiple adenomatous colon polyps. An adenomatous polyp is an area where the ... Gardner syndrome diagnosed? A person with multiple adenomatous colon polyps and/or colorectal cancer along with some of ...


Diagnosing Lung Cancer  


... and Giving Support For Health Professionals Get Involved Lung HelpLine Questions about your lung health? Ask an ... More About Lung Cancer > Diagnosing Lung Cancer Diagnosing Lung Cancer The method to diagnose lung cancer is ...


How Is Asthma Diagnosed?  


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


Early detection (9+6 weeks) of cardiac failure in a fetus diagnosed as Turner syndrome by 2D transvaginal ultrasound-guided coelocentesis.  


A 28-year-old woman was diagnosed by transvaginal ultrasound at 9+6 weeks with early fetal cardiac failure (hydrothorax and bradycardia). Doppler analysis of ductus venosus showed a negative A-wave pattern. The follow-up sonogram obtained at 11+6 weeks documented a missed abortion. A transvaginal ultrasound-guided coelocentesis was performed under local cervical anesthesia before uterine suction and 8 mL of clear extracoelomic fluid were successfully aspirated. Cytogenetic analysis demonstrated a 45,X karyotype. Ultrasound and Doppler waveform analysis of ductus venosus allowed early diagnosis of fetal cardiac failure. Coelocentesis may be the method of choice for early fetal karyotyping and may be used in the future to induce immunologic tolerance. PMID:19337987

Tonni, Gabriele; Azzoni, Daniela; Ventura, Alessandro; De Felice, Claudio; Marinelli, Maria



Miliary tuberculosis with no pulmonary involvement in myelodysplastic syndromes: a curable, yet rarely diagnosed, disease: case report and review of the literature  

PubMed Central

Background Although tuberculosis is not uncommon among patients with myelodysplastic syndrome (MDS), only a few reports of such patients suffering from miliary tuberculosis (MT) exist. MT often presents as a fever of unknown origin and it is a curable disease, yet fatal if left untreated. Case presentation We report a case of MT with no clinical or laboratory indications of pulmonary involvement in a patient with MDS, and review the relevant literature. Mycobacterium tuberculosis was isolated from the liquid culture of a bone marrow aspirate. Conclusion Even if the initial diagnostic investigation for a fever of obscure etiology is negative, MT should not be excluded from the differential diagnosis list. Since it is a curable disease, persistent and vigorous diagnostic efforts are warranted. In suspected cases, mycobacterial blood cultures should be collected as soon as possible after hospital admission and early bone marrow aspirate with mycobacterial cultures is advocated.

Neonakis, Ioannis K; Alexandrakis, Michael G; Gitti, Zoe; Tsirakis, George; Krambovitis, Elias; Spandidos, Demetrios A



Urolithins are the main urinary microbial-derived phenolic metabolites discriminating a moderate consumption of nuts in free-living subjects with diagnosed metabolic syndrome.  


Walnuts ( Juglans regia L.), hazelnuts ( Corylus avellana L.), and almonds ( Prunus dulcis Mill.) are rich sources of ellagitannins and proanthocyanidins. Gut microbiota plays a crucial role in modulating the bioavailability of these high molecular weight polyphenols. However, to date there are no studies evaluating the capacity to produce nut phenolic metabolites in subjects with metabolic syndrome (MetS), a pathology associated with an altered gut bacterial diversity. This study applied a LC-MS targeted approach to analyze the urinary excretion of nut phenolic metabolites in MetS subjects following 12 weeks of nut consumption, compared to sex- and age-matched individuals given a nut-free control diet. Metabolites were targeted in both hydrolyzed and nonhydrolyzed urine by LC-PDA-QqQ-MS/MS analysis, and identification of metabolites lacking available standards was confirmed by LC-ESI-ITD-FT-MS. Ellagitannin-derived urolithins A and B significantly increased after the nut-enriched-diet, urolithins C and D were also detected, and a complex combination of urolithin-conjugated forms was observed in nonhydrolyzed urine, confirming an extensive phase II metabolism after absorption. In contrast, no significant increases in proanthocyanidin microbial metabolites were observed in urine following nut consumption. Because the intestinal microbiota of the subjects in this study could catabolize ellagitannins into a wide range of urolithins, further research is strongly warranted on the in vivo potential of these microbial metabolites in reducing cardiometabolic risk. PMID:22631214

Tulipani, Sara; Urpi-Sarda, Mireia; García-Villalba, Rocío; Rabassa, Montserrat; López-Uriarte, Patricia; Bulló, Mònica; Jáuregui, Olga; Tomás-Barberán, Francisco; Salas-Salvadó, Jordi; Espín, Juan Carlos; Andrés-Lacueva, Cristina



Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'  

PubMed Central

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

Arora, Vipul; Kim, Usha R; Khazei, Hadi M



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

PubMed Central

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.

Williams, Eric H; Detmer, Don E; Guyton, Gregory P; Dellon, A Lee



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.  


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

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



Lemierre syndrome.  


Lemierre syndrome is an uncommon disease which commonly arise from acute bacterial oropharyngeal infection. This disease was first described in 1900 by Courmont and Cade Lemierre. It is commonly caused by Fusobacterium necrophorum. Lemierre syndrome has been reported to be serious and potentially fatal in the preantibiotic era. It is characterized by an oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein with embolization to the lungs and other organs. The incidence has become relatively rare at present and is usually only diagnosed when unsuspected culture results are available. We report a case of Lemierre syndrome which was recently diagnosed in our centre. PMID:23082433

Lim, Ai Lee; Pua, Kin Choo



TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: an autopsied case report and a review of the literature.  


We report an autopsy case of a 48-year-old female clinically diagnosed with facial-onset sensory and motor neuronopathy (FOSMN) syndrome with TAR DNA-binding protein 43 (TDP-43) pathology. She developed paresthesia involving her whole face, right upper extremity and the right side of her upper trunk, followed by dysphagia, dysarthria, muscle atrophy and weakness with fasciculation in both upper extremities. Her symptoms showed a marked cranial and right-sided dominancy. She had anti-sulfoglucuronyl paragloboside (SGPG) IgG and anti-myelin-associated glycoprotein (MAG) IgG, and repeatedly showed limited response to immunotherapies. Her disease was essentially progressive, culminating in death due to respiratory failure three and a half years after onset. The autopsy revealed severe degeneration of the nuclei of the right trigeminal nerve and right facial nerve and widespread TDP-43-positive glial inclusions in the brainstem tegmentum. Neurons in the hypoglossal nerve nuclei were also shrunken and lost, with TDP-43-positive neuronal inclusions. Neuronal loss and gliosis in the anterior horn, predominantly in the cervical cord, were prominent with TDP-43-positive skein-like inclusions. Bilateral ventral roots were obviously atrophic. Spinal tract degeneration was also prominent in the ventral columns, essentially sparing the anterior corticospinal tracts at the cervical cord level. Additionally there was severe myelin pallor in the right spinal trigeminal tract and right fasciculus cuneatus of the cervical cord. The right spinal root ganglion showed numerous Nageotte's nodules and focal lymphocytic infiltration. The present case manifested FOSMN syndrome clinically, while the pathological findings suggested a motor neuron disease like TDP-43 proteinopathy and a possible involvement of immune-mediated neuropathy. PMID:23849263

Sonoda, Keita; Sasaki, Kensuke; Tateishi, Takahisa; Yamasaki, Ryo; Hayashi, Shintaro; Sakae, Nobutaka; Ohyagi, Yasumasa; Iwaki, Toru; Kira, Jun-ichi



The Proteus syndrome: the Elephant Man diagnosed  

Microsoft Academic Search

Sir Frederick Treves first showed Joseph Merrick, the famous Elephant Man, to the Pathological Society of London in 1884. A diagnosis of neurofibromatosis was suggested in 1909 and was widely accepted. There is no evidence, however, of café au lait spots or histological proof of neurofibromas. It is also clear that Joseph Merrick's manifestations were much more bizarre than those

J A Tibbles; M M Cohen



Cerebro-Oculo-Facio-Skeletal Syndrome  


... COFS) Information Page Synonym(s): Pena Shokeir II Syndrome, Cockayne Syndrome Type II Table of Contents (click to jump ... gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have ...


Schmidt's syndrome - Case report  

PubMed Central

When immune dysfunction affects two or more endocrine glands and other non-endocrine immune disorders are present, the polyglandular autoimmune (PGA) syndromes should be considered. The PGA syndromes are classified as two main types: PGA type I and PGA type II. We are reporting this case in which a patient had primary adrenal insufficiency, autoimmune hypothyroidism and insulin dependent diabetes mellitus and was diagnosed as "Schmidt's syndrome" (PGA type II). This syndrome is a very rare autoimmune disorder and difficult to diagnose because the symptoms of this syndrome depends on the gland which gets involved first. Our patient was treated and improved with corticosteroid, thyroxine and insulin therapy.

Gupta, Amit Narayan; Nagri, Shivashankara Kaniyoor



Triple A syndrome.  


Triple A syndrome (Allgrove syndrome) is an autosomal recessive disorder consisting of achalasia, alacrima and Addison insufficiency. We report an 11-year-old girl with predominant symptom of achalasia who was diagnosed as Triple A syndrome almost 3 years after initial presentation. PMID:16361769

Bharadia, Lalit; Kalla, Mukesh; Sharma, S K; Charan, Rohit; Gupta, J B; Khan, Firoz


Allgrove syndrome.  


Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome. PMID:22584989

Kilicli, Fatih; Acibucu, Fettah; Senel, Soner; Dokmetas, Hatice Sebila



Hypothetico-deductive diagnoses  

Microsoft Academic Search

A diagnostic is inference to the state of a system from its observed and its expected behaviors. When no complete description is available--and this is not out of the ordinary in real-world applications--diagnosing a system cannot be done in a pure deductive way. To be more specific, deduction allows us to derive only partial diagnoses that must be completed to

Pierre Marquis



Scimitar syndrome.  


Scimitar syndrome, a rare anomaly of partial pulmonary venous drainage into the hepatic portion of the inferior vena cava, detected in a ten-day-old neonate who presented clinically with respiratory distress and diagnosed on ultrasound of the thorax is being reported here. PMID:15812122

Rokade, Muktachand L; Rananavare, R V; Shetty, Devdas S; Saifi, Shenaz



Understanding Prostate Cancer: Newly Diagnosed  


... Wellness PCF Spotlight Glossary African American Men Understanding Prostate Cancer Newly Diagnosed Newly Diagnosed Staging the Disease Issues ... you care about has recently been diagnosed with prostate cancer, this section will help guide you through the ...


How Is Pulmonary Embolism Diagnosed?  


... 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 ...


Diagnosing and managing violence.  


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

Fetter, Jeffrey C



How Is COPD Diagnosed?  


... recommend one or more tests to diagnose COPD. Lung Function Tests Lung function tests measure how much air you can breathe in ... COPD is spirometry (spi-ROM-eh-tre). Other lung function tests, such as a lung diffusion capacity test, also ...


Diagnosing ADHD in Adolescence  

ERIC Educational Resources Information Center

|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…

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.



Guillain-Barre Syndrome  


Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...


Learning about Klinefelter Syndrome  


... How is Klinefelter syndrome diagnosed? A chromosomal analysis (karyotype) is used to confirm the diagnosis. In this ... Development. Karyotyping [] From Medline Plus. Karyotype NHGRI's Talking Glossary of Genetics Terms. American Association ...


Paraneoplastic Syndromes  

PubMed Central

Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself.

Stolinsky, David C.



Popliteal artery entrapment syndrome  

PubMed Central

Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

O'Leary, D.P.; O'Brien, G.; Fulton, G.



Diagnoses and interventions in podiatry  

Microsoft Academic Search

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.

Walter M. Zuijderduin; Joost Dekker



Diagnosing ADHD in Adolescence  

Microsoft Academic Search

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 retrospective reporting of childhood symptoms were addressed. Method: Using data from the Pittsburgh ADHD Longitudinal Study (PALS), parent, teacher, and

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



Newly Diagnosed Acute Promyelocytic Leukemia  

PubMed Central

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.

Avvisati, Giuseppe



SAPHO syndrome.  


SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms. PMID:23597971

Carneiro, Sueli; Sampaio-Barros, Percival D



The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography  

PubMed Central

Summary Background: The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Case Report: Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features. Conclusions: Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening.

Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat



Trends in Autism Spectrum Disorder Diagnoses: 1994–2007  

Microsoft Academic Search

We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not\\u000a otherwise specified [PDD-NOS], pervasive developmental disorder [‘PDD’] and autism spectrum disorder [‘ASD’], and Asperger\\u000a syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007. Overall, distribution\\u000a of diagnoses was influenced by a secular time trend factor; other significant factors included ethnicity, white race,

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



Pre-Menstrual Syndrome in Women with Down Syndrome  

ERIC Educational Resources Information Center

|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…

Mason, Linda; Cunningham, Cliff



Hypothetico-deductive diagnoses  

NASA Astrophysics Data System (ADS)

A diagnostic is inference to the state of a system from its observed and its expected behaviors. When no complete description is available--and this is not out of the ordinary in real-world applications--diagnosing a system cannot be done in a pure deductive way. To be more specific, deduction allows us to derive only partial diagnoses that must be completed to get closer to the actual one. Subsequently, searching for better diagnoses requires hypothetical reasoning, where the assumptions to be generated aim at reflecting the diagnostician beliefs. In the frame of hypothetico-deductive diagnostic, several approaches have been pointed out so far. The consistency-based method is the simplest one. It sanctions the lack of evidence that a component of a system fails by jumping to the conclusion that this component behaves correctly. In contrast to the consistency-based approach, the circumscription-based and the deductive/abductive methods take into account how components behave to complete what is deductively generated. This paper is devoted to a comparison of the consistency-based, the circumscription-based, and the deductive/abductive approaches to diagnostic. Its expected purpose is to provide a deeper understanding of both techniques. It is organized as follows: problem formulation and terminology are introduced in Section 2; Section 3 proposes a brief overview of the consistency-based, the circumscription-based, and the deductive/abductive methods; Section 4 details and compares the preference criteria each approach supports; Section 5 illustrates this comparison on a simple example; and Section 6 concludes this paper.

Marquis, Pierre



Fat embolism syndrome  

PubMed Central

Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good.

George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.



Fat embolism syndrome.  


Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

George, Jacob; George, Reeba; Dixit, R; Gupta, R C; Gupta, N



Diagnosis of Hurler's Syndrome With Chest Roentgenogram  

PubMed Central

Hurler's syndrome is usually diagnosed by chemical means; however, characteristic roentgenographic findings of “hook-shaped” vertebral bodies or “oar-shaped” ribs may be helpful in diagnosing the disorder. ImagesFigure 1Figure 2

Kabnick, Earl M.; Adler, Leon; Berner, Todd P.; Estrin, Edward H.; Serchuk, Leon; Alexander, Leslie L.



Metabolic Syndrome  

Microsoft Academic Search

\\u000a Two separate statements published in the autumn of 2005 expressed diametrically opposed views as to the clinical utility of\\u000a “diagnosing” the metabolic syndrome (MetS). On the one hand (1), the American Heart Association (AHA) and the National Heart, Lung, and Blood Institute (NHLBI) firmly endorsed the need\\u000a to establish such a diagnostic category, and, with some minor modifications, utilized the

Gerald M. Reaven


Ocular and Oculomotor Signs in Joubert Syndrome  

Microsoft Academic Search

A number of oculomotor defects have been described in Joubert syndrome. This study systematically examined the oculomotor systems of 13 individuals previously diagnosed with Joubert syndrome. Twelve had the characteristic \\

Ronald J. Tusa; Martin T. Hove



Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.  


Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated with two clinical disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS), characterized by fetal overgrowth and a high risk of tumors, and Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth restriction. Until recently, we have been using Southern blotting for the diagnosis of RSS and BWS. We describe here a powerful quantitative technique, allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), for the diagnosis of these two complex disorders. We first checked the specificity of the probes and primers used for ASMM RTQ-PCR. We then carried out statistical validation for this method, on both retrospective and prospective populations of patients. This analysis demonstrated that ASMM RTQ-PCR is more sensitive than Southern blotting for detecting low degree of LOI. Moreover, ASMM RTQ-PCR is a very rapid, reliable, simple, safe, and cost effective method. PMID:21280150

Azzi, Salah; Steunou, Virginie; Rousseau, Alexandra; Rossignol, Sylvie; Thibaud, Nathalie; Danton, Fabienne; Le Jule, Marilyne; Gicquel, Christine; Le Bouc, Yves; Netchine, Irène



Trends in Autism Spectrum Disorder Diagnoses: 1994-2007  

ERIC Educational Resources Information Center

|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…

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



Neuroacanthocytosis Syndromes  

PubMed Central

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.



Diagnosing pulmonary embolism  

PubMed Central

Objective testing for pulmonary embolism is necessary, because clinical assessment alone is unreliable and the consequences of misdiagnosis are serious. No single test has ideal properties (100% sensitivity and specificity, no risk, low cost). Pulmonary angiography is regarded as the final arbiter but is ill suited for diagnosing a disease present in only a third of patients in whom it is suspected. Some tests are good for confirmation and some for exclusion of embolism; others are able to do both but are often non-diagnostic. For optimal efficiency, choice of the initial test should be guided by clinical assessment of the likelihood of embolism and by patient characteristics that may influence test accuracy. Standardised clinical estimates can be used to give a pre-test probability to assess, after appropriate objective testing, the post-test probability of embolism. Multidetector computed tomography can replace both scintigraphy and angiography for the exclusion and diagnosis of this disease and should now be considered the central imaging investigation in suspected pulmonary embolism.

Riedel, M



Congenital and Infantile Nephrotic Syndrome in Thai Infants  

Microsoft Academic Search

Congenital and infantile nephrotic syndrome reported from the Eastern world is rare and might be a different entity from that in the West. In a retrospective review of 10 nephrotic syndrome in Thai infants (5 girls and 5 boys), 7 were diagnosed with congenital nephrotic syndrome and 3 with infantile nephrotic syndrome. Two had congenital nephrotic syndrome secondary to congenital

Prayong Vachvanichsanong; Winyou Mitarnun; Kobkul Tungsinmunkong; Pornsak Dissaneewate



Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood  

ERIC Educational Resources Information Center

|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…

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



Medical treatment of newly diagnosed epilepsy.  


The first step in the treatment of epilepsy is the confirmation of the diagnosis. A correct diagnosis not only includes the epileptic origin of the event, but also the diagnosis of the seizure type and the epileptic syndrome. The second step is to try to find the aetiology of the seizures. Some papers have shown that the prognosis of epilepsy is better if the seizures are treated earlier, but other papers did not find any difference in the long-term prognosis between patients treated after the first seizure or after several seizures. Therefore, one of the most difficult points, after confirmation of the diagnosis, with a first or few seizures will be to identify the risks of relapse in some patients and to immediately treat them and to avoid treating the others who will have only one or rare seizures during their lives without any damage. In most cases, the first treatment will be the prescription of an antiepileptic drug (AED) in monotherapy. If the cause is treatable, it will be treated concomitantly. In generalised epilepsies, especially in idiopathic syndromes, valproate will be the first choice, most of the classic AEDs may worsen some seizure types in these syndromes. In partial epilepsies, there are no statistically significant differences in efficacy between the 4 classic major AEDs (carbamazepine, phenytoin, phenobarbitone and valproate) in pooled data. The choice of the drug should be more influenced by considerations of safety profile, dosing frequency, and costs for equivalent advantages. Accordingly, valproate is a good first choice in patients in whom the epilepsy syndrome is not clearly defined. Efficacy of newer AEDs is similar to old AEDs but most are better tolerated. However, some studies including seizure control, side effects, medical consultation, inpatient, accidental injuries, and laboratory investigations showed that newer AEDs are more expensive in newly diagnosed patients, compared to classic major AEDs and this notion should be taken into account for the prescription. PMID:10674139

van Rijckevorsel, K



Olanzapine induced neuroleptic malignant syndrome  

PubMed Central

An 18 year old male diagnosed as a case of bipolar affective disorder (BPAD), developed neuroleptic malignant syndrome (NMS) following treatment with olanzapine (20 mg per day), an atypical antipsychotic drug. NMS is usually seen with typical antipsychotic drugs. The patient was diagnosed as a case of NMS, offending agent was immediately withdrawn and prompt treatment with bromocriptine and levodopa produced a good recovery. The various features of the case are discussed in view of the potential mortality of the syndrome.

Patra, Bichitra Nanda; Khandelwal, Sudhir K.; Sood, Mamta



Sensory syndromes.  


Somatosensory deficit syndromes represent a common impairment following stroke and have a prevalence rate of around 80% in stroke survivors. These deficits restrict the ability of survivors to explore and manipulate their environment and are generally associated with a negative impact on quality of life and personal safety. Sensory impairments affect different sensory modalities in diverse locations at varying degrees, ranging from complete hemianesthesia of multiple modalities to dissociated impairment of somatosensory submodalities within a particular region of the body. Sensory impairments induce typical syndromal patterns which can be differentiated by means of a careful neurological examination, allowing the investigator to deduce location and size of the underlying stroke. In particular, a stroke located in the brainstem, thalamus, and the corticoparietal cortex result in well-differentiable sensory syndromes. Sensory function following stroke can be regained during rehabilitation even without specific sensory training. However, there is emerging evidence that specialized sensory interventions can result in improvement of somatosensory and motor function. Herein, we summarize the clinical presentations, examination, differential diagnoses, and therapy of sensory syndromes in stroke. PMID:22377851

Klingner, Carsten M; Witte, Otto W; Günther, Albrecht



Inherited thrombocytopenias frequently diagnosed in adults.  


The diagnosis of inherited thrombocytopenias is difficult, for many reasons. First, as they are all rare diseases, they are little known by clinicians, who therefore tend to suspect the most common forms. Second, making a definite diagnosis often requires complex laboratory techniques that are available in only a few centers. Finally, half of the patients have forms that have not yet been described. As a consequence, many patients with inherited thrombocytopenias are misdiagnosed with immune thrombocytopenia, and are at risk of receiving futile treatments. Misdiagnosis is particularly frequent in patients whose low platelet count is discovered in adult life, because, in these cases, even the inherited origin of thrombocytopenia may be missed. Making the correct diagnosis promptly is important, as we recently learned that some forms of inherited thrombocytopenia predispose to other illnesses, such as leukemia or kidney failure, and affected subjects therefore require close surveillance and, if necessary, prompt treatments. Moreover, medical treatment can increase platelet counts in specific disorders, and affected subjects can therefore receive drugs instead of platelet transfusions when selective surgery is required. In this review, we will discuss how to suspect, diagnose and manage inherited thrombocytopenias, with particular attention to the forms that frequently present in adults. Moreover, we describe four recently identified disorders that belong to this group of disorders that are often diagnosed in adults: MYH9-related disease, monoallelic Bernard-Soulier syndrome, ANKRD26-related thrombocytopenia, and familial platelet disorder with predisposition to acute leukemia. PMID:23510089

Balduini, C L; Savoia, A; Seri, M



Ankle Fractures Often Not Diagnosed  


... Videos & Podcasts » Articles » Text Size Print Bookmark Ankle Fractures Often Not Diagnosed Long-term Complications Result from Poor Recovery Mistaking an ankle fracture for an ankle sprain has serious consequences when ...


Methods of Diagnosing Essential Thrombocythemia.  

National Technical Information Service (NTIS)

This invention relates to diagnosis of essential thrombocythemia. More specifically, this invention provides methods of diagnosing essential thrombocythemia by detecting a decrease in gene expression or protein levels of type 3 17 beta-hyrdroxysteroid deh...

D. V. Gnatenko W. F. Bahou



How Is Bone Cancer Diagnosed?  


... be recognized from needle biopsy samples, but larger samples (from a surgical biopsy) are often needed to diagnose other types. Whether the surgeon plans to remove the entire tumor at the time ...


MR imaging of Joubert's syndrome  

Microsoft Academic Search

Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs), and describes MR imaging findings in seven of

R. Nuri Sener



How many functional somatic syndromes?  

Microsoft Academic Search

Objective: Patients with medically unexplained symptoms are given diagnoses dependent upon the particular medical specialty consulted — irritable bowel syndrome in gastroenterology, fibromyalgia in rheumatology and others. The purpose of this paper is to establish whether these 13 different syndromes are discrete entities. Methods: Consecutive new patients in seven outpatient clinics at two general hospitals were recruited. Patients completed questionnaires

Chaichana Nimnuan; Sophia Rabe-Hesketh; Simon Wessely; Matthew Hotopf



Bloom's syndrome. XX. The first 100 cancers  

Microsoft Academic Search

As of 1996 the 100th cancer was diagnosed in Bloom's syndrome. The cancers have been regularly documented since 1960 in a program of surveillance referred to as the Bloom's Syndrome Registry. Tabulated here are their types and ages of onset. The 100 cancers arose in 71 of the 168 registered individuals. Represented in Bloom's syndrome are both the cancers that

James German



Chronic Fatigue Syndrome: A Working Case Definition  

Microsoft Academic Search

The chronic Epstein-Barr virus syndrome is a poorly defined symptom complex characterized primarily by chronic or recurrent debilitating fatigue and various combinations of other symptoms, including sore throat, lymph node pain and tenderness, headache, myalgia, and arthralgias. Although the syndrome has received recent attention, and has been diagnosed in many patients, the chronic Epstein-Barr virus syndrome has not been defined




Fertility and pregnancy aspects in Turner syndrome  

Microsoft Academic Search

In Turner syndrome, about a third of the diagnosed girls undergoes at least some pubertal development, and up to 5% are fertile. About 50% of Turner syndrome girls have follicles in their ovaries. The likelihood to have them is highest among mosaic Turner syndrome girls who have signs of spontaneous puberty, but also 25% of the non-mosaic Turner girls have

Outi Hovatta; Julius Hreinsson; Margareta Fridström; Birgit Borgström


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.  


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

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



Sheehan's syndrome.  


Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The ?rst most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account. PMID:23245206

Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah



Premenstrual syndrome.  


Premenstrual syndrome, a common cyclic disorder of young and middle-aged women, is characterized by emotional and physical symptoms that consistently occur during the luteal phase of the menstrual cycle. Women with more severe affective symptoms are classified as having premenstrual dysphoric disorder. Although the etiology of these disorders remains uncertain, research suggests that altered regulation of neurohormones and neurotransmitters is involved. Premenstrual syndrome and premenstrual dysphoric disorder are diagnoses of exclusion; therefore, alternative explanations for symptoms must be considered before either diagnosis is made. The disorders can manifest with a wide variety of symptoms, including depression, mood lability, abdominal pain, breast tenderness, headache, and fatigue. Women with mild symptoms should be instructed about lifestyle changes, including healthy diet, sodium and caffeine restriction, exercise, and stress reduction. Supportive strategies, such as use of a symptom diary, may be helpful in diagnosing and managing the disorders. In women with moderate symptoms, treatment includes both medication and lifestyle modifications. Dietary supplements, such as calcium and evening primrose oil, may offer modest benefit. Selective serotonin reuptake inhibitors such as fluoxetine and sertraline are the most effective pharmacologic agents. Prostaglandin inhibitors and diuretics may provide some relief of symptoms. Only weak evidence supports the effectiveness of gonadotropin-releasing hormone agonists, androgenic agents, estrogen, progesterone, or other psychotropics, and side effects limit their use. PMID:12725453

Dickerson, Lori M; Mazyck, Pamela J; Hunter, Melissa H



Sandifer syndrome: an overlooked diagnosis?  


Three retarded children are described who had marked irritability and abnormal movements of the body and contortions of the neck. These movements were diagnosed as epilepsy and the children were treated with numerous anticonvulsants, without success. Subsequently severe gastro-oesophageal reflux was diagnosed, and treatment of the reflux completely eliminated the abnormal movements. Sandifer syndrome was diagnosed, consisting of abnormal body-movements and contortions of the neck, associated with gastro-oesophageal reflux. Suggestions are made to enable early diagnosis of this syndrome. PMID:4092855

Nanayakkara, C S; Paton, J Y



Wells Syndrome (Eosinophilic Cellulitis)  

PubMed Central

Objective: To report a case of Wells syndrome (eosinophilic cellulitis) in a patient who was previously hospitalized twice and received several antibiotic treatments. Setting: Inpatient hospital consultation. Participant: One patient diagnosed with Wells Syndrome based on supporting clinical history, histopathological examination, and other laboratory data. Measurement: Change in signs and symptoms over time. Results: Improvement of skin lesions after administration of corticosteroids. Conclusion: Wells syndrome is a clinical condition that mimics bacterial cellulitis. It is characterized as an erythematous, edematous tender plaque with predilection for the lower extremity. The authors report this case to warn clinicians about other primary dermatological disorders that resemble infectious cellulitis in order to avoid misdiagnoses and delayed treatment.

Coloe, Jacquelyn; Peters, Sara; Zirwas, Matthew; Darabi, Kamruz



Joint hypermobility syndrome.  


Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement. PMID:23597972

Fikree, Asma; Aziz, Qasim; Grahame, Rodney



Ischemic Bilateral Opercular Syndrome  

PubMed Central

Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

Milanlioglu, Aysel; Ayd?n, Mehmet Nuri; Gokgul, Alper; Hamamc?, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel



[Schizophrenia or Asperger syndrome?].  


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

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



Scheie syndrome  


... also: MPS I H (Hurler syndrome) MPS II, Hunter syndrome MPS IV Morquio syndrome MPS III (Sanfilippo ... syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive ...


Psychiatric diagnoses, trauma, and suicidiality  

PubMed Central

Background This study aimed to examine the associations between psychiatric diagnoses, trauma and suicidiality in psychiatric patients at intake. Methods During two months, all consecutive patients (n = 139) in a psychiatric hospital in Western Norway were interviewed (response rate 72%). Results Ninety-one percent had been exposed to at least one trauma; 69 percent had been repeatedly exposed to trauma for longer periods of time. Only 7% acquired a PTSD diagnosis. The comorbidity of PTSD and other psychiatric diagnoses were 78%. A number of diagnoses were associated with specific traumas. Sixty-seven percent of the patients reported suicidal thoughts in the month prior to intake; thirty-one percent had attempted suicide in the preceding week. Suicidal ideation, self-harming behaviour, and suicide attempts were associated with specific traumas. Conclusion Traumatised patients appear to be under- or misdiagnosed which could have an impact on the efficiency of treatment.

Floen, Silje K; Elklit, Ask



Sandifer syndrome reconsidered.  


Three children with Sandifer syndrome are described. One patient was at first erroneously diagnosed as having neurological disease; the two others had true neurological damage, which led initially to misinterpretation of their bizarre dystonic features. Awareness of this entity will spare such children needless investigations and suffering, while giving them the benefit of proper treatment. PMID:2596289

Mandel, H; Tirosh, E; Berant, M



Sotos syndrome.  


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

Baujat, Geneviève; Cormier-Daire, Valérie



Psychiatric diagnoses, trauma, and suicidiality  

Microsoft Academic Search

BACKGROUND: This study aimed to examine the associations between psychiatric diagnoses, trauma and suicidiality in psychiatric patients at intake. METHODS: During two months, all consecutive patients (n = 139) in a psychiatric hospital in Western Norway were interviewed (response rate 72%). RESULTS: Ninety-one percent had been exposed to at least one trauma; 69 percent had been repeatedly exposed to trauma

Silje K Floen; Ask Elklit



The Greig cephalopolysyndactyly syndrome.  


The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States. PMID:18435847

Biesecker, Leslie G



Popliteal entrapment syndrome and age.  


On the occasion of diagnosing a popliteal entrapment syndrome in a 59-year old man with no cardiovascular risk factors, who developed acute ischemic leg pain during long distance running, we give an overview on this entity with emphasis on patients' age. The different types of the popliteal artery compression syndrome are summarized. The diagnostic and therapeutic approaches are discussed. The most important clinical sign of a popliteal entrapment syndrome is the lack of atherosclerotic risk factors in patients with limited walking distance. Not only in young athletes but also in patients more than 50 years old the popliteal entrapment syndrome has to be taken into account. PMID:22825859

Schweizer, M; Hügli, R; Koella, C; Jeanneret, C



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


... activities, research & planning reports, strategic planning Scientific Resources Scientific databases, models, datasets & repositories Research Research networks, center programs, career development programs Grants & ...


How Do Health Care Providers Diagnose Down Syndrome?  


... 115. [top] ACOG. (2007). ACOG Practice bulletin: Invasive prenatal testing for aneuploidy . Retrieved June 11, 2012, from (PDF - 160 KB) [top] Hanna, K. E. (2006). Reproductive genetic testing . Retrieved June 11, 2012, from the National Human ...


Distal arthrogryposis syndrome.  


A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome. PMID:20300297

Kulkarni, K P; Panigrahi, I; Ray, M; Marwaha, R K



Atypical Presentation of West Nile Virus in a Newly Diagnosed Human Immunodeficiency Virus Patient in New York City  

PubMed Central

Central nervous system manifestations of West Nile virus (WNV) infection include meningitis, encephalitis, and poliomyelitis-like syndrome. We describe a 44-year-old man with no past medical history who presented with a meningoencephalitic syndrome and spastic paralysis bilaterally in the upper and lower extremities, hyperreflexia, and myoclonus and was ultimately diagnosed as being infected with HIV and WNV.

Josekutty, Joby; Yeh, Richard; Mathew, Sheena; Ramessar, Nina; Trinidad, Jennilee



Asherman's syndrome.  


Asherman's syndrome is being diagnosed with increasing frequency. Although it usually occurs following curettage of the pregnant or recently pregnant uterus, any uterine surgery can lead to intrauterine adhesions (IUA). Most women with IUA have amenorrhea or hypomenorrhea, but up to a fourth have painless menses of normal flow and duration. Those who have amenorrhea may also have cyclic pelvic pain caused by outflow obstruction. The accompanying retrograde menstruation may lead to endometriosis. In addition to abnormal menses, infertility and recurrent spontaneous abortion are common complaints. Hysteroscopy is the standard method to both diagnose and treat this condition. Various techniques for adhesiolysis and for prevention of scar reformation have been advocated. The most efficacious appears to be the use of miniature scissors for adhesiolysis and the placement of a balloon stent inside the uterus immediately after surgery. Postoperative estrogen therapy is prescribed to stimulate endometrial regrowth. Follow-up studies to assure resolution of the scarring are mandatory before the patient attempts to conceive as is careful monitoring of pregnancies for cervical incompetence, placenta accreta, and intrauterine growth retardation. PMID:21437822

March, Charles M



Myelodysplastic syndromes.  


Session 4 of the 2007 Workshop of the Society for Hematopathology/European Association for Haematopathology was devoted to myelodysplastic syndromes (MDSs). Submitted cases highlighted important issues and difficulties in relation to the diagnosis and classification of MDS. Much of the discussion focused on the correlation, or lack of it, between morphologic examination and other diagnostic techniques, cytogenetics in particular. The cases included examples of isolated del(5q) chromosomal abnormality, including the "classical" 5q- syndrome and other myeloid neoplasms. Other cytogenetic abnormalities in MDSs and the role of cytogenetics in diagnosing MDSs were addressed. Particularly challenging is the correct identification of fibrotic subtypes of MDSs and their separation from subsets of acute myeloid leukemia with myelofibrosis such as acute panmyelosis with myelofibrosis. The association and eventual relation of MDSs (hypoplastic in particular) with aplastic anemia, paroxysmal nocturnal hemoglobinuria, and other nonneoplastic disorders were illustrated. Novel cytogenetic and molecular genetic approaches are likely to revolutionize the classification of MDSs. However, it is unlikely that these new techniques will be capable, on their own, of adequately stratifying patients for treatment purposes. At least for the foreseeable future, the diagnosis of MDS requires integration of morphologic, immunophenotypic, and genetic features in the light of patient history and clinical manifestations. PMID:19605823

Orazi, Attilio; Czader, Magdalena B



Diagnosing dementia: No easy job  

Microsoft Academic Search

Background  From both clinical experience and research we learned that in complex progressive disorders such as dementia, diagnosis includes\\u000a multiple steps, each with their own clinical and research characteristics.\\u000a \\u000a \\u000a \\u000a \\u000a Discussion  Diagnosing starts with a trigger phase in which the GP gradually realizes that dementia may be emerging. This is followed\\u000a by a disease-oriented diagnosis and subsequently a care -oriented diagnosis. In parallel

Frank Buntinx; Jan De Lepeleire; Louis Paquay; Steve Iliffe; Birgitte Schoenmakers



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


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

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



Perinatal Outcome in the Liveborn Infant with Prenatally Diagnosed Omphalocele  

PubMed Central

Objective To compare perinatal outcomes between liveborn non-isolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Study Design Fetuses (n=86) with omphalocele were identified between 1995–2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks gestation, available fetal and/or neonatal karyotype, and a liveborn infant (n=46). Perinatal outcomes were compared in non-isolated (n=23) and isolated omphaloceles (n=23). Results For all omphaloceles, the majority delivered after 34 weeks by cesarean. Mean birth weight (2782 vs. 2704g), median length of stay (27 vs. 25 days), and mortality (2 in each group) was not different between the non-isolated and isolated groups, P>0.05. In the non-isolated group, 7 major anomalies were not confirmed postnatally. Of the prenatally diagnosed isolated omphaloceles, 8(35%) were diagnosed with a syndrome or other anomalies after birth. Conclusion The outcomes were similar in non-isolated and isolated prenatally diagnosed omphaloceles, but ultrasound did not always accurately determine the presence or absence of associated anomalies.

KOMINIAREK, Michelle A.; ZORK, Noelia; PIERCE, Sara Michelle; ZOLLINGER, Terrell



How to diagnose the cause of sudden cardiac arrest.  


Sudden cardiac death or sudden cardiac arrest (SCA) is defined as natural death that occurs within an hour of the onset of acute symptoms or during sleep due to a primary cardiac cause. Most cases of SCA are attributable to coronary artery disease, with occult cardiomyopathy or inheritable arrhythmic syndromes accounting for a minority of SCA. Diagnosing the cause of SCA has potential implications for the patient and the family, and demands a comprehensive approach. This review summarizes the potential causes of SCA and outlines a systematic diagnostic approach to the SCA survivor. PMID:21432834

Lim, Hoong Sern; Subbiah, Rajesh N; Leong-Sit, Peter; Gula, Lorne J; Skanes, Allan C; Yee, Raymond; Klein, George J; Krahn, Andrew D



Lemierre's Syndrome Complicating Pregnancy  

PubMed Central

Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.

Thompson, M.; Awonuga, A. O.; Bell, J.; Ray, C.; Awonuga, M. T.; Helfgott, A.



Hypersensitivity in muscle pain syndromes  

Microsoft Academic Search

The aim of this review is to present research that has a bearing on the pathogenesis of hypersensitivity in muscle pain syndromes.\\u000a Allodynia and hyperalgesia in these syndromes can be segmental or generalized and temporary or permanent. Hypersensitivity\\u000a in muscle pain conditions in the clinic is best diagnosed by determining the pressure pain threshold. In a disorder such as\\u000a fibromyalgia,

Karl G. Henriksson



[Differential congenital myasthenia syndrome diagnosis].  


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

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



Dorfman-chanarin syndrome: a case report.  


An 8-year-old male child, diagnosed case of congenital ichthyosis presented with abdominal distension, hepatomegaly and pancytopenia. His peripheral blood and bone marrow showed clear punched out intracytoplasmic vacuolations in leucocytes (Jordans' anomaly). He had convergent strabismus, ectropion, blepharitis and genu valgum. He was diagnosed as a case of Dorfman-Chanarin syndrome. PMID:23450106

Methre, Seema T; Godbole, Ravibhushan R; Nayar, Priyanka S; Manchanda, Rumma V



Screening and Diagnosing Children with Autism  


... Summary forPARENTS andCAREGIVERS SCREENING AND DIAGNOSING CHILDREN WITH AUTISM Autism is a disability that affects the skills ... have many questions about screening for and diagnosing autism such as: • What regular screening tests should your ...


[Alariosis--newly diagnosed trematodiasis].  


The aim of this work was to present alariosis--a newly diagnosed parasitic disease caused by a trematode Alaria alata. A. alata requires two intermediate hosts: a snail and a frog. Carnivorous mammals are definitive hosts. Humans and a number vertebrates can be paratenic hosts. The pathological consequences of the presence of A. alata in the connective- and muscle tissues, relevant symptoms, and its diagnostic methods have been described. Importance of multiorgans changes inflicted by the parasite have been emphasized. Alariosis may also exist as an ophthalmic disease. As yet no pathognomonic symptoms of this disease have been described. Alariosis is an emerging parasitic disease, difficult in diagnosis and requiring exclusion of other diseases. No serological test for diagnosis of alariosis are available. PMID:20209807

Wasiluk, Alicja



Genetics Home Reference: Coffin-Siris syndrome  


... abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. How common is Coffin-Siris syndrome? Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 80 cases have been reported in the ...


Autistic Disorder Symptoms in Rett Syndrome  

ERIC Educational Resources Information Center

|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…

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



Marfan syndrome: clinical diagnosis and management  

Microsoft Academic Search

Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of

John C S Dean; John CS Dean



Association of Tspyl Polymorphisms with SIDDT Syndrome.  

National Technical Information Service (NTIS)

The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis an...

D. A. Stephan E. G. Puffenberger



Recognition of Down syndromes using image analysis  

Microsoft Academic Search

In the present study, image processing algorithms have been applied to face photos of the patients diagnosed by down syndrome for development of a pre-diagnostic tool. The data sets evaluated in this study are collected from children whose ages range from 5 to 6. In each of normal syndrome groups; 18 photos of the children are analyzed. The critical points

O. Erogul; M. E. Sipahi; Y. Tunca; S. Vurucu



Mycoplasma blood infection in chronic fatigue and fibromyalgia syndromes  

Microsoft Academic Search

Chronic fatigue syndrome (CFS) and fibromyalgia syndrome (FMS) are characterised by a lack of consistent laboratory and clinical abnormalities. Although they are distinguishable as separate syndromes based on established criteria, a great number of patients are diagnosed with both. In studies using polymerase chain reaction methods, mycoplasma blood infection has been detected in about 50% of patients with CFS and\\/or

Gerhard K. M. Endresen



Artificial Intelligence in Pediatrics: Important Clinical Signs in Newborn Syndromes  

Microsoft Academic Search

New methods are warranted in the field of syndromology. This study is an exploration into whether an artificial intelligence method (ID3) could provide a new angle for approaching syndromes. Diagnosing syndromes in the newborn is difficult. The accepted approach is to look for individual clinical signs that add up to a syndrome diagnosis. Of all possible clinical signs, one would

Øivind Braaten



Jacobsen syndrome  

PubMed Central

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.

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



Li–Fraumeni Syndrome  

Microsoft Academic Search

\\u000a In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni. Using a classical epidemiologic approach,\\u000a they retrospectively evaluated 280 medical charts and 418 death certificates of children diagnosed with rhabdomyosarcoma in\\u000a the United States from 1960 to 1964 [1,2]. Five families were identified in whom a second child had developed a soft tissue\\u000a sarcoma. In addition, a

David Malkin


Validity of the Asperger Syndrome Diagnostic Scale  

Microsoft Academic Search

Until publication of the Asperger Syndrome Diagnostic Scale (ASDS) in 2001, no standardized and nationally-normed instrument existed specifically for the purpose of diagnosing Asperger syndrome (AS) [Myles et al., 2001. Asperger Syndrome Diagnostic Scale ASDS), PRO-ED, Austin]. This study sought to augment the existing psychometric data on the ASDS through examination of its divergent, convergent, and discriminative validity. Measures of AS,

Koren M. Boggs; Alan M. Gross; Carol L. Gohm



Recognition and management of perioperative serotonin syndrome.  


Mild forms of serotonin syndrome can potentially be fatal, if not recognized. The increased use of serotonergic agents makes the awareness of its prevalence, various presentations, diagnostic evaluation, and treatment a clinical imperative. It is important to note that serotonin syndrome can only be diagnosed clinically in the presence of 3 clinical criteria: mental status changes, autonomic manifestations, and neuromuscular abnormalities. This case report describes a patient who underwent an uncomplicated closed nasal fracture reduction and subsequently developed serotonin syndrome. PMID:22133969

Wilson, Lisa; Rooney, Thomas; Baugh, Reginald F; Millington, Belinda



Piecing together the problems in diagnosing low-level chromosomal mosaicism  

PubMed Central

Low-level somatic chromosomal mosaicism, which usually arises from post-zygotic errors, is a known cause of several well defined genetic syndromes and has been implicated in various multifactorial diseases. It is, however, not easy to diagnose, as various physical and technical factors complicate its identification.



Anatomical Brain Images Alone Can Accurately Diagnose Chronic Neuropsychiatric Illnesses  

PubMed Central

Objective Diagnoses using imaging-based measures alone offer the hope of improving the accuracy of clinical diagnosis, thereby reducing the costs associated with incorrect treatments. Previous attempts to use brain imaging for diagnosis, however, have had only limited success in diagnosing patients who are independent of the samples used to derive the diagnostic algorithms. We aimed to develop a classification algorithm that can accurately diagnose chronic, well-characterized neuropsychiatric illness in single individuals, given the availability of sufficiently precise delineations of brain regions across several neural systems in anatomical MR images of the brain. Methods We have developed an automated method to diagnose individuals as having one of various neuropsychiatric illnesses using only anatomical MRI scans. The method employs a semi-supervised learning algorithm that discovers natural groupings of brains based on the spatial patterns of variation in the morphology of the cerebral cortex and other brain regions. We used split-half and leave-one-out cross-validation analyses in large MRI datasets to assess the reproducibility and diagnostic accuracy of those groupings. Results In MRI datasets from persons with Attention-Deficit/Hyperactivity Disorder, Schizophrenia, Tourette Syndrome, Bipolar Disorder, or persons at high or low familial risk for Major Depressive Disorder, our method discriminated with high specificity and nearly perfect sensitivity the brains of persons who had one specific neuropsychiatric disorder from the brains of healthy participants and the brains of persons who had a different neuropsychiatric disorder. Conclusions Although the classification algorithm presupposes the availability of precisely delineated brain regions, our findings suggest that patterns of morphological variation across brain surfaces, extracted from MRI scans alone, can successfully diagnose the presence of chronic neuropsychiatric disorders. Extensions of these methods are likely to provide biomarkers that will aid in identifying biological subtypes of those disorders, predicting disease course, and individualizing treatments for a wide range of neuropsychiatric illnesses.

Bansal, Ravi; Staib, Lawrence H.; Laine, Andrew F.; Hao, Xuejun; Xu, Dongrong; Liu, Jun; Weissman, Myrna; Peterson, Bradley S.



Guillain–Barré syndrome coexisting with pericarditis or nephrotic syndrome after influenza vaccination  

Microsoft Academic Search

A 68-year-old woman and a 72-year-old man presented with distal weakness of the limbs and numbness following an influenza vaccination within 2 weeks. Moreover, Guillain–Barré syndrome (GBS) was diagnosed in two patients. Pericarditis was diagnosed in the first patient who also had precordial chest pain with referral to trapezius ridge, and nephrotic syndrome, was observed in the second patient who

Chuen-Der Kao; Jen-Tse Chen; Kon-Ping Lin; Din-E Shan; Zin-An Wu; Kwong-Kum Liao



Lemierre's syndrome: the forgotten disease.  


Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome. PMID:23686643

Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole



48, XXYY syndrome associated tremor.  


48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. However, patients with 48, XXYY syndrome also commonly have dental problems, tremor, attention deficit disorder, learning difficulties, allergies and asthma. The tremor is typically reported as an intention tremor (in 71% of patients XXYY aged >20 years with 48), which becomes more common with age and worsens over time. PMID:23487807

Lote, Hazel; Fuller, Geraint N; Bain, Peter G



Paraphilic Diagnoses in DSM-5.  


Background: The DSM-5 has been under revision since 1999 and is scheduled for publication in 2013. This article will review the major proposed modifications of the Paraphilias. Method: The information reviewed was obtained from PubMed, PsychInfo, the website and other sources and reviewed. Results: Pedohebephilia, Hypersexual Disorder and Paraphilic Coercive Disorder are new proposed diagnoses. Paraphilias have been assigned their own chapter in DSM- 5 and a distinction has been made between Paraphilias and Paraphilic Disorders. Victim numbers have been included in diagnosis of paraphilias that involve victims and remission and severity measures have been added to all paraphilias. Transvestic Disorder can apply to males or females, Fetishistic Disorder now includes partialism, and Sexual Masochism Disorder has Asphyxiophilia as a specifier. Limitations: This study is based on a literature review and influenced by the knowledge and biases of the authors. Conclusions: The Paraphilic Disorders Section of the DSM-5 represents a significant departure from DSMIV-TR. PMID:23585461

Krueger, Richard B; Kaplan, Meg S



Challenges in diagnosing mesenteric ischemia.  


Early identification of acute mesenteric ischemia (AMI) is challenging. The wide variability in clinical presentation challenges providers to make an early accurate diagnosis. Despite major diagnostic and treatment advances over the past decades, mortality remains high. Arterial embolus and superior mesenteric artery thrombosis are common causes of AMI. Non-occlusive causes are less common, but vasculitis may be important, especially in younger people. Because of the unclear clinical presentation and non-specific laboratory findings, low clinical suspicion may lead to loss of valuable time. During this diagnostic delay, progression of ischemia to transmural bowel infarction with peritonitis and septicemia may further worsen patient outcomes. Several diagnostic modalities are used to assess possible AMI. Multi-detector row computed tomographic angiography is the current gold standard. Although computed tomographic angiography leads to an accurate diagnosis in many cases, early detection is a persistent problem. Because early diagnosis is vital to commence treatment, new diagnostic strategies are needed. A non-invasive simple biochemical test would be ideal to increase clinical suspicion of AMI and would improve patient selection for radiographic evaluation. Thus, AMI could be diagnosed earlier with follow-up computed tomographic angiography or high spatial magnetic resonance imaging. Experimental in vitro and in vivo studies show promise for alpha glutathione S transferase and intestinal fatty acid binding protein as markers for AMI. Future research must confirm the clinical utility of these biochemical markers in the diagnosis of mesenteric ischemia. PMID:23538325

van den Heijkant, Teun C; Aerts, Bart A C; Teijink, Joep A; Buurman, Wim A; Luyer, Misha D P



Lemierre's syndrome (necrobacillosis)  

PubMed Central

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

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



Inherited Colorectal Cancer Syndromes  

PubMed Central

Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events but up to 5% are attributed to known monogenic disorders including Lynch syndrome, Familial Adenomatous Polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.

Kastrinos, Fay; Syngal, Sapna



Pediatric Complex Regional Pain Syndrome  

Microsoft Academic Search

Complex regional pain syndrome (CRPS) is a relatively new diagnostic entity in pediatrics. There is debate as to what constitutes the most effective treatment for pediatric CRPS. This study presents the patient characteristics, clinical course, a~d treatment outcome of 20 children diagnosed with CRPS at a major children's hospital during a 4·year period. The results showed that pediatric CRPS occurs

Adrian K. Low; Kate Ward; Andrew P. Wines


Sezary syndrome in a dog  

Microsoft Academic Search

Sézary syndrome was diagnosed in a dog with epidermotropic lymphosarcoma and a leukaemic blood picture wherein 73.5% of the leucocytes (15582 of 21200 leucocytes \\/µl of blood) were large mononuclear cells with markedly convoluted nuclei. The dog had a history of multiple skin tumours progressing to hepatosplenomegaly and lymphadenopathy. Alpha-naphthyl acetate esterase staining of blood smears and splenic imprints revealed

K. S. Latimer; P. M. Rakich



Unique presentation of Twiddler's syndrome  

PubMed Central

We present a rare case of Twiddler’s syndrome diagnosed in an asymptomatic patient on a routine follow up. This case reiterates the need for frequent monitoring of the implanted device. In addition, it was detected 4 years after implantation of an automatic implantable cardioverter defibrillator. This late representation is extremely uncommon.

Parikh, Valay; Barsoum, Emad A; Morcus, Rewais; Azab, Basem; Lafferty, James; Kohn, Jeffrey



Unique presentation of Twiddler's syndrome.  


We present a rare case of Twiddler's syndrome diagnosed in an asymptomatic patient on a routine follow up. This case reiterates the need for frequent monitoring of the implanted device. In addition, it was detected 4 years after implantation of an automatic implantable cardioverter defibrillator. This late representation is extremely uncommon. PMID:23802049

Parikh, Valay; Barsoum, Emad A; Morcus, Rewais; Azab, Basem; Lafferty, James; Kohn, Jeffrey



Schimmelpenning syndrome.  


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

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



Craniofacial Syndrome Descriptions  


... thumbs and occasional absence of the radial limb. Pfeiffer syndrome Pierre Robin Sequence Saethre-Chotzen Saethre-Chotzen ... syndrome • Moebius syndrome • Nager syndrome • Pierre Robin Sequence • Pfeiffer syndrome • Saethre-Chotzen syndrome • Treacher Collins syndrome Children's ...


Pendred Syndrome  


... Pendred syndrome never develop a goiter. Top How common is Pendred syndrome? The SLC26A4 gene, which causes Pendred syndrome, accounts for about five to ten percent of hereditary hearing loss. As researchers gain more knowledge about the syndrome and its features, they hope ...


Alagille syndrome  

Microsoft Academic Search

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

I D Krantz; D A Piccoli; N B Spinner



Isolated clubfoot diagnosed prenatally: is karyotyping indicated?  

Microsoft Academic Search

Objective: To evaluate the appropriateness of fetal karyotyping after prenatal sonographic diagnosis of isolated unilateral or bilateral clubfoot.Methods: We retrospectively reviewed a database of fetal abnormalities diagnosed by ultrasound at a single tertiary referral center from July 1994 to March 1999 for cases of unilateral or bilateral clubfoot. Fetuses who had additional anomalies diagnosed prenatally, after targeted sonographic fetal anatomy

Fergal D Malone; Teresa Marino; Diana W Bianchi; Kim Johnston; Mary E D’Alton



Early diagnosis of Usher syndrome in children.  

PubMed Central

PURPOSE: To screen severe to profound, preverbal hearing-impaired children for Usher syndrome by ophthalmologic examinations, including electroretinographic testing. These patients are especially good candidates for early cochlear implants, which will improve listening and spoken language skills. METHODS: Consecutive patients over 2 years of age, given a diagnosis of severe to profound, preverbal hearing loss, were screened for Usher syndrome by a complete ophthalmologic examination including an electroretinogram. RESULTS: Five of 48 patients screened (10.4%) were diagnosed with Usher syndrome and received cochlear implants. CONCLUSION: All children with severe to profound, preverbal sensorineural hearing loss should be screened for Usher syndrome by ophthalmologic examination including electroretinogram.

Mets, M B; Young, N M; Pass, A; Lasky, J B



Goldenhar's syndrome.  


We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate. PMID:626178

Feingold, M; Baum, J



Juvenile polyposis syndrome  

PubMed Central

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.

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



Risk of endometrial cancer forwomen diagnosed with HNPCC-related colorectal carcinoma  

PubMed Central

The risk of endometrial cancer (EC) subsequent to a diagnosis of colorectal cancer in women with a germline mutation in a mismatch repair gene (Lynch syndrome or HNPCC) is unknown. We estimated the risk of EC following a diagnosis of CRC for women with Lynch syndrome. A retrospective cohort study was performed on women diagnosed with CRC with a germline mutation in a mismatch repair gene (Lynch Syndrome cases), and women with microsatellite stable CRC who were not known to carry a germline mutation (non-Lynch cases), identified from the Colon Cancer Family Registry. The incidence of EC following CRC was estimated and compared for women with and without Lynch syndrome, using adjusted hazards ratios calculated for time at risk among each group. One hundred and twelve women with Lynch syndrome and a previous diagnosis of CRC were compared with 908 women without Lynch and with a microsatellite stable CRC diagnosis. The estimated ten year cumulative risk of EC subsequent to CRC was 23.4% (95% CI: 15–36%) for Lynch syndrome women compared to 1.6% (95% CI: 0.7–3.8%) for non-Lynch women. After adjusting for ascertainment, age at diagnosis and diagnosis of other cancers, risk of subsequent diagnosis with EC was elevated 6-fold in women with Lynch syndrome compared to non-Lynch women (HR 6.2; 95% CI 2.2–17.3; p=0.001). Approximately one quarter of women diagnosed with Lynch syndrome-associated CRC developed EC within 10 years. This supports the sentinel cancer concept and suggests that active and early management is important for these women.

Obermair, Andreas; Youlden, Danny R.; Young, Joanne P.; Lindor, Noralane M.; Baron, John A.; Newcomb, Polly; Parry, Susan; Hopper, John L.; Haile, Robert; Jenkins, Mark A.



[Joubert syndrome: findings at conventional magnetic resonance image and at diffusion tensor imaging].  


We present the case of a 20-year-old man previously diagnosed with cerebral palsy in whom a developmental disorder was detected at physical examination. After cranial CT and conventional cranial MRI, we diagnosed Joubert syndrome. We completed the study with diffusion tensor imaging and tractography. This article reviews the imaging findings for Joubert syndrome and the relevant literature. PMID:21641625

Burguete Moriones, A; Cabada Giadás, T; Bacaicoa Saralegui, M C; Annicherico Sánchez, F J



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


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.

Smith, Desmond J. (Oakland, CA); Rubin, Edward M. (Berkeley, CA)



Prescribing patterns in premenstrual syndrome.  


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

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



Child abuse, sudden infant death syndrome, and unexpected infant death.  


There is now evidence, from a variety of approaches, that indicate that between one tenth and one fifth of children currently diagnosed as cases of sudden infant death syndrome are not natural deaths. There is also equally strong evidence, where the possibility of filicide has been explored, that the majority of children diagnosed as cases of sudden infant death syndrome do die of natural causes. PMID:8213682

Emery, J L



Psychiatric diagnoses aboard an aircraft carrier.  


A descriptive study was conducted for 150 consecutive patients with a psychiatric diagnosis evaluated over 11 months by the medical staff onboard an aircraft carrier. Patients with sole diagnosis of alcohol abuse or dependence were excluded. Axis II diagnoses, or personality disorders, were more common (N = 120) than Axis I diagnoses (N = 46). The most common Axis I diagnoses were adjustment disorder and major depression. Axis II diagnoses were significantly more likely (OR = 7.33, 95% CI 4.45-12.16, p = 0.000) in sailors less than 23 years of age compared to ship's population. Suicide behavior was demonstrated in 68% (102/150) of the patient population. This study emphasized the requirement for extensive psychiatric training for the clinical aerospace medicine specialists providing operational support to aircraft carrier crews. PMID:1445152

Bohnker, B; McEwen, G; Blanco, J; Feeks, E



Diagnosing Students' Misconceptions in Causal Models.  

National Technical Information Service (NTIS)

Tutorial dialogues can be analyzed as an interaction in which a tutor 'debugs' a student's knowledge representation by diagnosing and correcting conceptual misunderstandings. In this paper some tentative steps toward a theory which describes tutorial inte...

A. L. Stevens A. Collins S. Goldin



Neuroblastoma in Children: Just Diagnosed Information  


... mistake that happens during cell division. Symptoms of Neuroblastoma There are no symptoms of neuroblastoma that are ... High blood pressure Rapid heartbeat Persistent diarrhea Diagnosing Neuroblastoma There are many procedures and tests that might ...


How Do Health Care Providers Diagnose Pheochromocytoma?  


... or their metabolites to diagnose pheochromocytoma. Metabolites are biochemical substances that form when another is broken down ... the body. Higher than normal amounts of these biochemical substances in the blood and/or urine can ...


Vertebral Artery Dissection Diagnosed with CT  

Microsoft Academic Search

Summary: Vertebral artery dissection after neck manipulation has been well described. A case of bilateral vertebral artery dissection diagnosed with dynamic CT scanning of the neck is reported. The CT appearances and correlative angiographic and MR findings are presented.

J. R. Soper; G. D. Parker; J. M. Hallinan


Diagnosing Computational Difficulty in the Classroom  

ERIC Educational Resources Information Center

How teachers can diagnose difficulties with computation is discussed, with emphasis on how to develop diagnostic tests. How to use such tests to plan remediation is considered in terms of several types of errors. (MN)

Inskeep, James E., Jr.



How Do Health Care Providers Diagnose Endometriosis?  


... Information Clinical Trials Resources and Publications How do health care providers diagnose endometriosis? Page Content Surgery is currently ... under a microscope, to confirm the diagnosis. 1 Health care providers may also use imaging methods to produce ...


Moebius Syndrome  


... children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, characterized by loss and ...


Hurler syndrome  


... called mucopolysaccharidoses, or MPS. See also: MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo ... For more information and support, contact one of the following ... Society for MPS and Related Diseases -- Society ...


Duane's syndrome.  


Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development. PMID:10809934

Gutowski, N J



Rett Syndrome  


... in different stages of the disease over a lifetime. The NICHD has supported research on Rett syndrome ... Rett disorder RTT Medical or Scientific Names 1 Autism-dementia-ataxia-loss of purposeful hand use syndrome ...


Marfan Syndrome  


... can cause many complications. Sometimes the complications are life threatening. Overview Marfan syndrome is a genetic disorder. ... live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are ...


Asherman syndrome  


Asherman syndrome is the formation of intrauterine adhesions (scar tissue), which typically develop after uterine surgery. ... Asherman syndrome is a rare condition. In most cases, it occurs in women who have had several dilatation ...


Fanconi syndrome  


... Fanconi syndrome is unknown. Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as: Cystine (cystinosis) Fructose ( fructose ...


Sotos Syndrome  


NINDS Sotos Syndrome Information Page Synonym(s): Cerebral Gigantism Table of Contents (click to jump to sections) What is Sotos Syndrome? Is there any treatment? What is the prognosis? What research is ...


Angelman Syndrome  


You are here: Home » Disorders A - Z » Angelman Syndrome » Skip secondary menu Home Disorders A - Z Angelman Syndrome Information Page Publications Organizations News Research literature Other related groups Organizations Professional Societies ...


Troyer Syndrome  


You are here: Home » Disorders A - Z » Troyer Syndrome » Skip secondary menu Home Disorders A - Z Troyer Syndrome Information Page Publications Organizations News Research literature Other related groups Organizations Professional Societies ...


Piriformis Syndrome  


You are here: Home » Disorders A - Z » Piriformis Syndrome » Skip secondary menu Home Disorders A - Z Piriformis Syndrome Information Page Publications Organizations News Research literature Other related groups Organizations Professional Societies ...


The Sensitive Skin Syndrome  

PubMed Central

Sensitive skin syndrome (SSS) is a common and challenging condition, yet little is known about its underlying pathophysiology. Patients with SSS often present with subjective complaints of severe facial irritation, burning, and/or stinging after application of cosmetic products. These complaints are out of proportion to the objective clinical findings. Defined as a self-diagnosed condition lacking any specific objective findings, SSS is by definition difficult to quantify and, therefore, the scientific community has yet to identify an acceptable objective screening test. In this overview we review recent epidemiological studies, present current thinking on the pathophysiology leading to SSS, discuss the challenges SSS presents, and recommend a commonsense approach to management.

Lev-Tov, Hadar; Maibach, Howard I



Cowden syndrome.  

PubMed Central

Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas. Images

Hanssen, A M; Fryns, J P



Klinefelter Syndrome  


What is Klinefelter syndrome? Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra ... Y chromosome (XY) is male. Most males with Klinefelter syndrome, also called XXY males, have two X ...


Gardner's syndrome  

Microsoft Academic Search

In recent years, a number of comprehensive reviews have been written on inherited intestinal polyposis syndromes (1–7), but none has dealt specifically with Gardner's syndrome and none has focused on basic research being carried out in an attempt to under-stand this syndrome and to improve the medical management of affected patients. A better understanding of this rare genetic disorder is

Edwin W. Naylor; Emanuel Lebenthal



Oculocerebrocutaneous Syndrome (Delleman Syndrome)  

Microsoft Academic Search

Oculocerebrocutaneous syndrome (OCCS) is a rare disease (OMIM # 164180) with only around 35 patients reported so far (Hunter 2008, Tambe et al. 2003) characterized by bilateral anophthalmia and orbital cysts, typical skin lesions consisting in skin appendages, focal dermal\\u000a hypoplasia\\/aplasia and punch-like defects, complex brain malformations (mostly of the Dandy-Walker type) associated to mental\\u000a retardation and seizures, and cleft

Ignacio Pascual-Castroviejo


Clinical outcome of Fitz-Hugh-Curtis syndrome mimicking acute biliary disease  

Microsoft Academic Search

AIM: To analyze the clinical characteristics of patients diagnosed with Fitz-Hugh-Curtis syndrome. METHODS: The clinical courses of patients that visited St. Mary's Hospital with abdominal pain from January 2005 to December 2006 and were diagnosed with Fitz-Hugh-Curtis syndrome were examined. RESULTS: Fitz-Hugh-Curtis syndrome was identified in 22 female patients of childbearing age; their mean age was 31.0 ± 8.1 years.

Seong Yong Woo; Jin Il Kim; Dae Young Cheung; Se Hyun


Stiff skin syndrome--case report.  


Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild hypertrichosis and limited joint mobility. No effective treatment has yet been found. Exercises and rehabilitative therapy are important in maintaining the patient's quality of life. The authors present a case of a two-year-old boy with progressive skin hardening since he was eight-month old and secondary restricted joint mobility, diagnosed as Stiff skin syndrome. PMID:22068804

Amorim, Adriana Gutstein da Fonseca; Aidé, Marcia Kalil; Durães, Sandra Maria Barbosa; Rochael, Mayra Carrijo


The Wisconsin Fetal Alcohol Syndrome Screening Project  

Microsoft Academic Search

Problem: Fetal Alcohol Syndrome (FAS) is preventa- ble, under-diagnosed, and under-reported. Wisconsin rates for alcohol use and binge drinking in childbear- ing-age women exceed the national average. FAS preva- lence in Wisconsin has not previously been systemati- cally evaluated. Methods: The Wisconsin Fetal Alcohol Syndrome Screening Project (WFASSP) used a multi-stage, multi- source prospective population-based screening meth- odology to identify

Marianne Weiss; Christine E. Cronk; Sandra Mahkorn; Randall Glysch; Sara Zirbel



Radiological features of familial Gorlin-Goltz syndrome.  


Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail. PMID:22474649

Hegde, Shruthi; Shetty, Shishir Ram



Autism spectrum disorder diagnoses in Stockholm preschoolers.  


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, habilitation and follow-up. Records of 142 of a total of 147 (123 boys and 24 girls) identified children with ASD diagnoses were scrutinised with respect to type of diagnosis, cognitive level, other developmental disorders and medical/neurological disorders. The overall prevalence of such disorders was 6.2/1000 (95% confidence interval 5.2-7.2/1000). The rates of learning disability/mental retardation, developmental delay without a specified cognitive level and normal intelligence constituted about one third, respectively. AS and atypical autism tended to be diagnosed more often at age 5-6 years while AD with learning disability/mental retardation was more often diagnosed at age 3-4 years. The awareness of ASDs has resulted in increasing numbers of children being diagnosed at young ages. We conclude that it is important to take into account these children's broader developmental profiles, need for repeated assessment of cognitive functions and follow-up over time and also the requirement for medical/neurological consideration and work-up. PMID:20149593

Fernell, Elisabeth; Gillberg, Christopher



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

ERIC Educational Resources Information Center

|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…

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



Report of seven neurological patients with misidentification syndrome  

Microsoft Academic Search

Objective: To present clinical, neuropsychological and laboratory data on 7 patients with misidentification syndrome and to discuss its possible etiologies and pathophysiology. Methods: Seven patients presenting misidentification syndrome, 6 female and 1 male, aged 64-78 years were studied. All had a brain disease diagnosed by clinical and laboratory data. All patients were submitted to general clinical examination, neurological and neuropsychological

Edson José Amâncio; Paula Reolon; Amadil Sanches



Chronic pneumonia and polyarthritis syndrome in a feedlot calf  

PubMed Central

A feedlot heifer was diagnosed with chronic pneumonia and polyarthritis syndrome (CPPS), which was confirmed on postmortem examination. The syndrome is caused by Mycoplasma bovis; however, available data support the theory that other pathogens play a role in predisposing to this disease. Continued research on CPPS focuses on pathogenesis, treatment, and prevention.

Krysak, Dorothy E.



Behavioral and Emotional Disturbance in Individuals with Williams Syndrome.  

ERIC Educational Resources Information Center

Comparison of behavioral and emotional disturbance in 70 children and adolescents with Williams Syndrome (characterized by mental retardation and short stature) and a control group, found Williams Syndrome subjects were more likely to be diagnosed with a psychiatric disorder characterized by anxiety, hyperactivity, preoccupations, and…

Einfeld, Stewart L.; Tonge, Bruce J.; Florio, Tony



Adolescents With Asperger Syndrome and Perceptions of Friendship  

Microsoft Academic Search

This qualitative study investigated the perceptions of friendship faced by teenagers diagnosed With Asperger syndrome. This research aimed to provide teachers With an insight into the social World of Asperger syndrome from a student perspective. A multiple—case study approach Was used to collect data from 5 secondary school students in Australia. Data Were collected through the use of semistructured intervieWs.

Suzanne Carrington; Elizabeth Templeton; Tracey Papinczak



Peripheral nerve involvement in Churg-Strauss syndrome  

Microsoft Academic Search

Peripheral neuropathy associated with bronchial asthma, multisystem organ dysfunction and idiopathic hypereosinophilia may be found in Churg-Strauss syndrome, hypereosinophilic syndrome and polyarteritis nodosa. Some authors have diagnosed their patients according to the presence in tissue biopsies of the three histological criteria of Churg and Strauss (necrotizing vasculitis, tissue eosinophilic infiltration, extravascular granulomas). We have observed three patients with a common

Raffaella Marazzi; Davide Pareyson; Amerigo Boiardi; Massimo Corbo; Vidmer Scaioli; Angelo Sghirlanzoni



Polycystic Ovary Syndrome: A Review of Current Knowledge  

Microsoft Academic Search

Polycystic ovarian syndrome (PCOS) is the most common endocrine disease of women of reproductive age, yet it remains undiagnosed for many women. The reason the syndrome is often not diagnosed or is misdiagnosed is because PCOS can present with a variety of abnormalities that can be present in other endocrine dysfunctions and problems. Concerns about abnormal menses, an inability to

Elizabeth DuRant; Nan S. Leslie



Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report  

Microsoft Academic Search

INTRODUCTION: Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been

Laura Saad; Luiz FAL Silva; Claudio EM Banzato; Clarissa R Dantas; Celso Garcia Jr



Autism Profiles of Males With Fragile X Syndrome  

ERIC Educational Resources Information Center

|Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria…

Harris, Susan W.; Hessl, David; Goodlin-Jones, Beth; Ferranti, Jessica; Bacalman, Susan; Barbato, Ingrid; Tassone, Flora; Hagerman, Paul J.; Herman, Kristin; Hagerman, Randi J.



Fragile X syndrome is less common than previously estimated  

Microsoft Academic Search

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

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



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

Microsoft Academic Search

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

Melanie Ehrlich; Kelly Jackson; Corry Weemaes



Patients with Ehlers Danlos syndrome and CRPS: A possible association?  

Microsoft Academic Search

Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disorders of connective tissue. These

Joan M. Stoler; Anne Louise Oaklander



Multiple supernumerary teeth not associated with complex syndromes: A retrospective study  

Microsoft Academic Search

Objectives: To determine the epidemiology and describe the clinical and radiographic characteristics, the type of treatment, and the possible delayed appearance of new supernumerary teeth in patients with non-syndromic multiple hyperdontia. Patients and Methods: We conducted a small retrospective observational study of 8 patients diagnosed with non- syndromic multiple hyperdontia. Multiple hyperdontia not associated to complex syndromes was defined as

José Yagüe-García; Leonardo Berini-Aytés; Cosme Gay-Escoda


Post-radiation Piriformis Syndrome in a Cervical Cancer Patient -A Case Report-.  


The piriformis syndrome is a condition allegedly attributable to compression of the sciatic nerve by the piriformis muscle. Recently, magnetic resonance neurography and electrophysiologic study have helped to diagnose piriformis syndrome. High dose radiotherapy could induce acute and delayed muscle damage. We had experienced piriformis syndrome with fatty atrophy of piriformis muscle after radiotherapy for recurrent cervical cancer. PMID:20552082

Jeon, Sang Yoon; Moon, Ho Sik; Han, Yun Jung; Sung, Choon Ho



Chilaiditi syndrome in a patient with urological problems: Incidental diagnosis on computed tomography  

PubMed Central

A rare syndrome, Chilaiditi’s syndrome is interposition of the colon only or with the small intestine in hepatodiaphragmatic area. It may be asymptomatic, but it may also present with symptoms, such as abdominal pain, nausea, vomiting, constipation and respiratory distress. We present a patient who was admitted with urological problems; he was incidentally diagnosed with Chilaiditi’s syndrome.

Ozer, Cevahir; Zenger, Seda



Aetiological study of the presumed ocular histoplasmosis syndrome in the Netherlands  

Microsoft Academic Search

AIMTo investigate whether presumed ocular histoplasmosis syndrome in the Netherlands is caused by Histoplasma capsulatum and whether other risk factors might play a role in the pathogenesis of this syndrome.METHODS23 patients were clinically diagnosed as having presumed ocular histoplasmosis syndrome based on the following criteria: peripapillary atrophy, punched out lesions, a macular disciform lesion or scar in one eye without

J. V. Ongkosuwito; L. M. Kortbeek; A. van der Lelij; E. W. Molicka; A. Kijlstra; M D de Smet; M. S. A. van Suttorp-Schulten



Post-radiation Piriformis Syndrome in a Cervical Cancer Patient -A Case Report-  

PubMed Central

The piriformis syndrome is a condition allegedly attributable to compression of the sciatic nerve by the piriformis muscle. Recently, magnetic resonance neurography and electrophysiologic study have helped to diagnose piriformis syndrome. High dose radiotherapy could induce acute and delayed muscle damage. We had experienced piriformis syndrome with fatty atrophy of piriformis muscle after radiotherapy for recurrent cervical cancer.

Jeon, Sang Yoon; Moon, Ho Sik; Han, Yun Jung



Historical facts of screening and diagnosing diabetes in pregnancy.  


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

Negrato, Carlos Antonio; Gomes, Marilia Brito



Historical facts of screening and diagnosing diabetes in pregnancy  

PubMed Central

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.



The ICD diagnoses of fetishism and sadomasochism.  


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

Reiersøl, Odd; Skeid, Svein



Insufficient cholecystectomy diagnosed by endoscopic ultrasonography.  


Recurrent attacks of upper right quadrant pain after cholecystectomy are not infrequent. In most of these cases, the cause of the pain remains undiagnosed. Insufficient cholecystectomy has been described as a rare cause of post-cholecystectomy pain, although the true incidence is unknown. It is difficult to diagnose a residual gallbladder or a large cystic duct with residual stones, due to the size of the remaining structures. This report presents three patients who had experienced a long period of agonizing biliary-type pain after cholecystectomy. Abdominal ultrasound examinations, and magnetic resonance cholangiopancreatography (MRCP) in one patient, were normal. Endoscopic ultrasonography (EUS) demonstrated the presence of a small cystic structure with echogenic foci compatible with a residual gallbladder containing small gallstones. Two of the three diagnoses were confirmed by repeat surgery. EUS thus appears to be a valuable method for diagnosing insufficient cholecystectomy, and should be considered in patients with persistent pain attacks after cholecystectomy. PMID:14986224

Hassan, H; Vilmann, P



[Nursing diagnoses for diabetic patients using insulin].  


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

Becker, Tânia Alves Canata; Teixeira, Carla Regina de Souza; Zanetti, Maria Lúcia


Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.  


Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome. PMID:21948575

Korkmaz, U?ur; Duman, Ali Erkan; O?ütmen Koç, Deniz; Gürbüz, Ye?im; D?ndar, Gökhan; Ensaro?lu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin



Pediatric obstructive sleep apnea syndrome.  


Pediatric obstructive sleep apnea syndrome (OSAS) is a common health problem diagnosed and managed by various medical specialists, including family practice physicians, pediatricians, pulmonologists, and general and pediatric otolaryngologists. If left untreated, the sequelae can be severe. Over the last decade, significant advancements have been made in the evidence-based management of pediatric OSAS. This article focuses on the current understanding of this disease, its management, and related clinical practice guidelines. PMID:23905822

Alexander, Nathan S; Schroeder, James W



Apparent mineralocorticoid excess (AME) syndrome.  


Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but treatable disorder. We present clinical and molecular studies on two sisters diagnosed as AME. PMID:23665601

Parvez, Yusuf; Sayed, Ola El



Hereditary Adenomatous Colorectal Cancer Syndromes  

Microsoft Academic Search

\\u000a Colorectal cancer (CRC) is one of the most common cancer diagnoses that a digestive disease specialist or primary care physician\\u000a will encounter in a patient in their practice [1]. While fewer than 10% of the cases occur within the setting of a hereditary\\u000a colorectal cancer syndrome (HCCS), the burden of the disease to the patient, family, and provider is greater

Maqsood Khan; Carol A. Burke


Pancreatic hamartoma diagnosed after surgical resection  

PubMed Central

A pancreatic hamartoma is a rare benign lesion that may be mistaken for malignancy. A pancreatic hamartoma can present with vague, non-specific symptoms, which can be difficult to diagnose despite modern diagnostic tools. We report here a pancreatic hamartoma diagnosed after surgical resection. A 52-year-old female presented with postprandial abdominal discomfort. Abdominal computed tomography and pancreatic magnetic resonance imaging revealed a 2.2 × 2.5-cm cystic mass in the pancreatic head. The patient underwent a pylorus-preserving pancreaticoduodenectomy. The histopathological and immunohistochemical studies helped make the diagnosis of pancreatic hamartoma. Here, we report a case of pancreatic hamartoma and review the relevant medical literature.

Kim, Ho-Hyun; Hur, Young-Hoe; Koh, Yang-Seok; Kim, Jung-Chul; Kim, Hyun-Jong; Kim, Jin-Woong; Kim, Young; Lee, Jae-Hyuk



Novel mutation in a child with Goltz syndrome.  


Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2?+?1G?>?A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation. PMID:21732017

Kapoor, Seema; Ghosh, Vidyabrata; McGrath, John A; Kochar, Atul Mohan; Kapoor, Harit; Malik, Reetika



Löfgren’s syndrome revisited: a study of 186 patients  

Microsoft Academic Search

PURPOSE: To evaluate the clinical features, the results of noninvasive tests and biopsies, and the outcome of patients with Löfgren’s syndrome.SUBJECTS AND METHODS: Patients diagnosed as having Löfgren’s syndrome at a university hospital in Barcelona, Spain, from 1974 to 1996, were prospectively followed. Löfgren’s syndrome was defined as the association of erythema nodosum or periarticular ankle inflammation with unilateral or

Juan Mañá; Carmen Gómez-Vaquero; Abelardo Montero; Albert Salazar; Joaquim Marcoval; José Valverde; Frederic Manresa; Ramón Pujol



Fragile X syndrome among children with mental retardation  

Microsoft Academic Search

Prospective screening for fragile X syndrome was carried out among 1,111 patients with mental retardation who attended the\\u000a Genetic clinic. Using defined clinical criteria, 55 patients were selected for cytogenetic studies to detect folate sensitive\\u000a fragile sites. Twenty patients were diagnosed to have the fragile X syndrome. The prevalence of fragile X (A) syndrome was\\u000a 18 per 1,000 patients of

Ramu Elango; Ishwar C. Verma



Symptomatic Morgagni Hernia Misdiagnosed As Chilaiditi Syndrome  

PubMed Central

Chilaiditi syndrome, symptomatic interposition of bowel beneath the right hemidiaphragm, is uncommon and usually managed without surgery. Morgagni hernia is an uncommon diaphragmatic hernia that generally requires surgery. In this case a patient with a longstanding diagnosis of bowel interposition (Chilaiditi sign) presented with presumed Chilaiditi syndrome. Abdominal computed tomography was performed and revealed no bowel interposition; instead, a Morgagni hernia was found and surgically repaired. Review of the literature did not reveal similar misdiagnosis or recommendations for advanced imaging in patients with Chilaiditi sign or syndrome to confirm the diagnosis or rule out other potential diagnoses.

Vallee, Phyllis A.



Silver-Russell Syndrome: A Case Report  

PubMed Central

A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Silver-Russell Syndrome occurs mostly in isolated cases because of sporadic genetic changes (mutations) for no apparent reason. For lack of facilities we were not able to do genetic study.

Kumar, Sunil; Jain, AP; Agrawal, Sachin; Chandran, Sindu



Transsexualism or the gender dysphoria syndromes.  


Professional, patient and media forces tend to oversimplify the complexity of the gender dysphoria syndrome. Because sex reassignment surgery may be helpful to some patients with the syndrome and harmful to others, mental health professionals need to competently perform differential diagnoses of both the gender disorder and the associated psychopathologies. This frequently involves distinctions between subtle forms of psychosis, character pathologies of varying severity, and major developmental problems. Surgery should not be considered the only, or the best, treatment for the syndrome. Contrary to popular belief, psychotherapy can help many patients, especially those with secondary gender dysphoria. PMID:7345156

Levine, S B; Lothstein, L



[Multicystic lung revealing a Sjogren's syndrome].  


The Sjogren's syndrome is a chronic inflammatory autoimmune disease that affects primarily the exocrine glands, but can affect other organs particularly the lungs. Cystic lung disease is very significant but exceptionally recounted in the literature. We report the case of a patient, 54 years old, whose disease was discovered incidentally after a routine chest radiograph. The diagnosis of cystic lung revealing a primary Sjogren's syndrome was held before a group of radio-clinical, immunological and histological arguments. Through our observation, the diagnosis of Sjogren's syndrome should be included in the list of diagnoses to raise in a multicystic lung. PMID:22240069

Berrada, Z; El Khattabi, W; Aichane, A; Afif, H; Bouayad, Z



Goodpasture's syndrome associated with pulmonary eosinophilic vasculitis.  


Lung hemorrhage and antiglomerular basement membrane (anti-GBM) antibody mediated nephritis define Goodpasture's syndrome. We present the case of a 19-year-old Caucasian woman with unique clinical findings of Goodpasture's syndrome. Our patient initially presented with leukocytoclastic vasculitis of the skin followed by the development of nephritis and lung hemorrhage. An open lung biopsy done prior to diagnosing anti-GBM antibody disease demonstrated an intense eosinophilic vasculitis. Skin vasculitis has only been rarely reported, and to our knowledge this is the first reported case of pulmonary eosinophilic vasculitis associated with Goodpasture's syndrome. PMID:3184080

Komadina, K H; Houk, R W; Vicks, S L; Desrosier, K F; Ridley, D J; Boswell, R N



Autism Spectrum Disorder Diagnoses in Stockholm Preschoolers  

ERIC Educational Resources Information Center

|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,…

Fernell, Elisabeth; Gillberg, Christopher



Eating Disorder Diagnoses: Empirical Approaches to Classification  

ERIC Educational Resources Information Center

|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…

Wonderlich, Stephen A.; Joiner, Thomas E., Jr.; Keel, Pamela K.; Williamson, Donald A.; Crosby, Ross D.



Pregnancies diagnosed during Depo-Provera use  

Microsoft Academic Search

We conducted a review of contraceptive failures among women using Depo-Provera (depot medroxyprogesterone acetate), using reports to the Insurance Division of Planned Parenthood Federation of America, Inc. Cases were included if the Depo-Provera had been given at a Planned Parenthood center and pregnancy had either been diagnosed by, or reported to, a Planned Parenthood center. There were 402 reports of

Lynn Borgatta; Amitasrigowri Murthy; Cynthia Chuang; Leah Beardsley; Michael S. Burnhill



Psychiatric Diagnoses and Suicide: Revisiting the Evidence  

Microsoft Academic Search

Background: The key role of prevention and treatment of mental disorders in the prevention of suicide is widely acknowledged. Which specific disorders need to be targeted remains to be conclusively demonstrated. Aims: To re-examine the presence of psychiatric diagnosis in cases of completed suicide from a global perspective. Method: A review of studies reporting diagnoses of mental disorders in cases

José Manoel Bertolote; Alexandra Fleischmann; Diego De Leo; Danuta Wasserman




EPA Science Inventory

Engle, Virginia D. and Stephen J. Jordan. In press. Diagnosing Causes of Impairment in Coastal Ecosystems (Abstract). To be presented at the SETAC Fourth World Congress, 14-18 November 2004, Portland, OR. 1 p. (ERL,GB R1008). Estuarine and coastal ecosystems are challenge...


Multimodality imaging to diagnose takotsubo cardiomyopathy  

Microsoft Academic Search

Acute myocardial stunning is usually related to ischemia and obstructive coronary artery disease. We present a patient who had acute myocardial stunning and normal coronary arteries in whom multimodality imaging was used to diagnose takotsubo cardiomyopathy. Case report. A 64-year-old woman was referred to the hospital because of severe chest pain precipitated after sudden emotional stress. On physical examination, she

Arthur J. H. A. Scholte; Jeroen J. Bax; M. P. Stokkel; T. Plokker; T. A. M. Kaandorp; H. J. Lamb; A. de Roos; E. E. van der Wall



Diagnosing Gas Dispersal Processes in Protoplanetary Disks  

NASA Astrophysics Data System (ADS)

ALMA observations with high spatial resolution and high sensitivity will reveal detailed structure of planet forming regions in protoplanetary disks. In advance of this ALMA era, we have modelled physical and chemical structure and line emission from disks to study how molecular lines can be useful for diagnosing gas dispersal processes such as magnetorotational instability and photoevaporation.

Nomura, H.; Walsh, C.; Millar, T. J.; Aikawa, Y.



Eating Disorder Diagnoses: Empirical Approaches to Classification  

ERIC Educational Resources Information Center

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…

Wonderlich, Stephen A.; Joiner, Thomas E., Jr.; Keel, Pamela K.; Williamson, Donald A.; Crosby, Ross D.



Eating Disorder Diagnoses: Empirical Approaches to Classification  

Microsoft Academic Search

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 empirical studies and do not capture the disorders of eating experienced by

Stephen A. Wonderlich; Thomas E. Joiner; Pamela K. Keel; Donald A. Williamson; Ross D. Crosby



A Fast Test to Diagnose Flu  

SciTech Connect

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

Hazi, A U



Neurobehavioral syndromes.  


Dysfunction of higher cortical function and neurobehavioral syndromes may be present in up to 87% of stroke patients. These symptoms may occur less often in patients with transient ischemic attacks (36%). Approximately 22% of stroke patients may present only with cognitive and neurobehavioral symptoms without elementary neurological deficits. In this chapter we concentrate on delusions, hallucinations, misidentification syndromes, anosognosia of hemiplegia, aggressive behavior and also extended self syndrome. PMID:22377864

Piechowski-Jozwiak, Bartlomiej; Bogousslavsky, Julien



Gorlin Syndrome  

PubMed Central

Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R



Gorlin syndrome.  


Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis. PMID:23723494

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R



Aicardi syndrome.  


Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome. PMID:22815034

Singh, Paramdeep; Goraya, Jatinder Singh; Saggar, Kavita; Ahluwalia, Archana



Fisher Syndrome  

Microsoft Academic Search

Opinion statement  Fisher syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. It is considered a variant\\u000a form of Guillain-Barré syndrome, which is associated with anti-GQ1b antibodies. During initial examinations of patients, physicians\\u000a must rule out other neurologic disorders or conditions that resemble Fisher syndrome, such as vitamin B1 deficiency (Wernicke’s\\u000a encephalopathy), vascular disease, multiple sclerosis, collagen disease,

Masahiro Mori; Satoshi Kuwabara



Recurrent short rib polydactyly syndrome.  


We present three consecutive cases of skeletal dysplasias of a non-consanguineous couple with five pregnancies. The diagnosis of short-rib polydactyly syndrome (SRPS) was feasible by ultrasound during the 1st trimester of pregnancy. SRPS represents a heterogeneous group of lethal skeletal dysplasias. It is characterised by short limb dwarfism complicated by thoracic hypoplasia, polydactyly and different anomalies of major organs such as congenital heart defects and renal dysplasia. Four major types of the SRPS have been described: type I (Saldino-Noonan); type II (Majewski); type III (Verma-Naumoff) and type IV (Beemar-Langer). However, there is phenotypic overlapping between four types and with those of non-lethal skeletal dysplasias (i.e. Ellis-van Creveld syndrome and Jeune syndrome). Our cases show the importance of the nuchal translucency (NT) scan that offers the opportunity to examine fetal anatomy in the 1st trimester and diagnose rare skeletal abnormalities early in pregnancy. PMID:23259870

Eleftheriades, M; Iavazzo, C; Manolakos, E; Hassiakos, D; Botsis, D; Petersen, M; Konstantinidou, A



ARC syndrome in preterm baby.  


A preterm female infant born of 32 weeks gestational age was presenting with musculoskeletal abnormalities, and cholestasis that later on resolved. Later on, she developed renal tubular acidosis (RTA), poor weight gain, unexplained intermittent fever and recurrent spontaneous bleeding episodes. ARC is an acronym that stands for arthrogryposis, renal dysfunction and cholestasis. ARC syndrome is a rare disorder that is difficult to diagnose and is associated with poor outcomes. We present a case of ARC syndrome in an infant with a history of failure to thrive, early cholestasis and RTA. There are many unique features about this case that should add to our understanding of this genetic condition. To our knowledge this is the first identified case of ARC syndrome in a preterm infant. Although the specific mutation found in our patient has not been reported previously, the type and location of this mutation is consistent with our genetic understanding of this disorder. PMID:24071963

Elmeery, A; Lanka, K; Cummings, J



Turner Syndrome  


... Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development


Progressive language impairments: Definitions, diagnoses, and prognoses  

Microsoft Academic Search

Background: Speech pathologists have much to contribute to diagnosis of, intervention in, and education about the clinical syndromes that present with selective and progressive impairments in spoken or receptive language processing, reading, writing, and semantic knowledge. However, there is no single agreed classification system for these disorders, with the result that different research and clinical groups may use the same

Karen Croot



Cancer problem in Peutz-Jeghers syndrome  

PubMed Central

Peutz–Jeghers syndrome is a rare autosomal dominantly inherited condition, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome can be associated with other neoplasms such as ovarian neoplasms known as sex-cord tumor with annular tubules that are associated in one third of the cases with this syndrome and other types of malignancies. We report a 42-year-old woman with a history of Peutz–Jeghers Syndrome and bilateral breast cancer that presented with abnormal uterine bleeding. Total abdominal hysterectomy with bilateral salpino-oophorectomy was done and an ovarian sex cord tumor with annular tubules was incidentally diagnosed. By reviewing literatures and in agreement with previous studies we suggest routine screening for malignancies in patients with Peutz–Jeghers syndrome.

Taheri, Diana; Afshar-Moghadam, Noushin; Mahzoni, Parvin; Eftekhari, Amin; Hashemi, Seyed Mozafar; Emami, Mohammad Hasan; Fesharakizadeh, Mehdi; Ghasemi-basir, Hamid Reza



Mapping the x-linked lymphoproliferative syndrome  

SciTech Connect

The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.



Fetal Alcohol Syndrome in Adolescents and Adults.  

ERIC Educational Resources Information Center

|Persons with fetal alcohol syndrome (FAS) may be diagnosed at birth based on specific symptoms and anomalies. These are history of prenatal alcohol exposure, mental retardation, central nervous system dysfunctions, growth deficiency, particular physical anomalies, and speech and language anomalies. With aging, cranial and skeletal anomalies…

Bert, Cynthia R. Greene; Bert, Minnie


Results of operative treatment of Fraley's syndrome  

Microsoft Academic Search

Relying on their own observations, the authors describe nine patients in whom Fraley's syndrome was diagnosed and treated operatively. In six of them, calycopyeloneostomy was performed. In three of the patients, because of complications, the upper pole of the kidney was excised together with the changed calyx. In noncomplicated cases the calycopyeloneostomy with a transposition of the artery beyond the

M. Fryczkowski; K. Zaluczkowski; A. Kobierska-Szczepa?ska; W. Rawski



Employees' Knowledge of Carpal Tunnel Syndrome.  

ERIC Educational Resources Information Center

|A study examined employees' knowledge of the causes of carpal tunnel syndrome (CTS), its prevention, and their legal rights after being diagnosed with CTS. A 24-item questionnaire was administered to a random sample of 30 Chicago-area employees who had been afflicted with CTS. Of those surveyed, 99% considered their CTS injury related to their…

Gandy-Goldston, Terrie M.


Multiple recurrence of trisomy 21 Down syndrome  

Microsoft Academic Search

A young family with four chromosomally documented cases of trisomy 21, at least two, further cases of Down syndrome diagnosed only clinically, and no healthy children among their offspring is reported. No sign of mosaicism was found in studies of lymphocytes and skin fibroblasts from the parents. In a biopsy from the mother's ovary a trisomic cell line was found,

Kim Gjerum Nielsen; Hanne Poulsen; Margareta Mikkelsen; Elke Steuber



Management of the Irritable Bowel Syndrome  

Microsoft Academic Search

Irritable bowel syndrome (IBS) is the most common disorder diagnosed by gastroenterologists and one of the more common ones encountered in general practice. The overall prevalence rate is similar (approximately 10%) in most industrialized countries; the illness has a large economic impact on health care use and indirect costs, chiefly through absenteeism. IBS is a biopsychosocial disorder in which 3

Michael Camilleri



Scimitar syndrome in an older adult  

Microsoft Academic Search

Scimitar syndrome is a rare congenital heart disease. It is divided into subgroups of infantile, adult, and multiple cardiac and extracardiac malformation. Most patients are diagnosed during infancy and occasionally in adolescence, but very few patients are older than 20 years of age, and only some cases have severe symptoms that require surgical correction. We report a case of a

Shiang-Fen Huang; Wen-Chung Yu; Jia-Haur Chern; Yu-Chin Lee


The problem of Gulf War syndrome  

Microsoft Academic Search

Following a war with widespread attention to and concern over the potential for numerous biological and chemical warfare exposures, some Gulf War veterans returned home and developed various illnesses. Although some of these illnesses are readily diagnosable, the so-called Gulf War syndrome has remained a controversial and nebulous diagnosis. It is characterized by multiple, subjective symptoms, and by a lack

R. Ferrari; A. S. Russell



Puberty in 24 patients with Klinefelter syndrome  

Microsoft Academic Search

Twenty four boys with Klinefelter syndrome, 18 of whom were diagnosed prepubertally, were observed until adulthood. Onset of puberty, as judged from testicular enlargement and pubic hair development, occurred between 11 to 14 years in the above 18 patients. By the age of 17 pubic hair, penile length and height had reached the adult stage in all patients, but arrest

E. Topper; Z. Dickerman; R. Prager-Lewin; H. Kaufman; Z. Maimon; Z. Laron



Nevoid basal cell carcinoma syndrome (Gorlin syndrome)  

PubMed Central

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure.

Lo Muzio, Lorenzo



Direct to consumer and physician promotion of tegaserod correlated with physician visits, diagnoses, and prescriptions  

PubMed Central

Background & Aims Direct to consumer advertisement (DTCA) and physician promotion of drugs can influence patient and physician behaviors. We sought to determine the relationship between promotion of tegaserod and the number of office visits for abdominal pain, constipation, and bloating; diagnoses of irritable bowel syndrome (IBS); and tegaserod prescriptions. Methods We used an Integrated Promotional Services database to estimate tegaserod DTCA and promotion expenditures, The National Ambulatory/Hospital Medical Care Surveys (1997–2005) to estimate the number of ambulatory care visits for abdominal pain, constipation, and bloating and diagnoses of IBS, and IMS Health's National Prescription Audit Plus to estimate the number of prescriptions. We constructed segmented and multivariate regression models to analyze the data. Results In the 3 months immediately following the start of tegaserod DTCA, there was a significant increase in physician visits (by 1 million; 95% CI 0.5–1.6 million) and IBS diagnoses (by 397,025; 95% CI 3,909–790,141). Subsequently, the trend of visits and IBS diagnoses reduced. In multivariate analyses that examined the overall relationship of promotion with visits, diagnoses, and prescriptions, only the relationship between physician promotion and tegaserod prescribing was significant; every $1 million spent on physician promotion resulted in an additional 4,108 prescriptions (95% CI: 2,526–5,691). Conclusions The initial DTCA of tegaserod was associated with a significant, immediate increase in physician visits and IBS diagnoses. This trend reversed and in multivariate models, neither DTCA nor physician promotion correlated with visits or diagnoses. Physician promotion (though not DTCA) correlated with tegaserod prescription volume.

Dorn, Spencer D.; Farley, Joel F.; Hansen, Richard A.; D. Shah, Nilay; Sandler, Robert S.



Brown's syndrome: diagnosis and management.  

PubMed Central

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

Wright, K W



Diagnosing patients with longstanding shoulder joint pain  

PubMed Central

Methods: Eighty six patients with longstanding shoulder joint pain were "blindly" examined by two trained doctors using several clinical tests. In all patients an ultrasonographic examination was performed, and in 42 (49%) an arthroscopy. Results: Tests for impingement showed poor to moderate agreement. Tenderness of muscles, muscle weakness, and tests for labral lesion also showed poor agreement. Pain during muscle contraction showed moderate agreement. The agreement of clinical diagnoses was poor and the accuracy was low in comparison with arthroscopy. Ultrasonography was accurate in full thickness supraspinatus tendon tears, but inaccurate for partial tears and labral lesions. Conclusions: Most clinical tests showed poor agreement. Clinical and ultrasonographic diagnoses had low accuracy in comparison with arthroscopy.

Norregaard, J; Krogsgaard, M; Lorenzen, T; Jensen, E



[The art of diagnosing bone tumors].  


Bone tumors are infrequent and at times difficult to diagnose, especially when the medical team is not familiar enough with this type of pathology. A close relationship between the surgeon, the radiologist and the pathologist is necessary to diagnose bone neoplasias. A thorough case history and physical exam are mandatory to get the first clinical impression. After the former aspects, conventional radiology offers a powerful tool for the characterization and differential diagnosis of bone tumors and seudotumor lesions. Patient age and radiologic findings are very important to reach a diagnosis. Supplementary studies contribute to stage the lesion and guide the biopsy and they are necessary to plan the definitive surgery. Biopsy is a very important procedure that should be performed at the hospital by the surgeon who will later perform the definitive surgery. When the pathologist gets the tissue specimen, regardless of the type of biopsy, the entire patient history should be considered before making the final diagnosis. PMID:23320343

Sánchez-Torres, L J; Santos-Hernández, M


Acquired haemophilia A initially diagnosed as angioedema.  


Acquired haemophilia (AH) is a bleeding diathesis caused by inhibitors to factor VIII. Patients developing AH may present with catastrophic bleeding episodes despite having no prior history of bleeding disorder. The authors report a patient with AH who presented with tongue swelling and was diagnosed with angioedema on presentation. However, the patient started bleeding spontaneously after presentation and was diagnosed with AH and the workup revealed haematoma of the tongue, which was the cause of tongue swelling. As previously reported in the literature, AH in this patient might have been precipitated secondary to exposure to an ear infection or exposure to the penicillin group of antibiotics. Laboratory examination was confirmatory for AH, which was appropriately treated with recombinant activated factor VIIa and immunosuppressive therapy with good outcomes. Understanding the pathophysiology of AH and appropriate management is important to prevent life-threatening bleeding. PMID:23921693

Demissie, Asmeret; Shahani, Lokesh; Khan, Aziz; Desai, Meghna



Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period  

PubMed Central

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.

Yetman, Anji T.; Beroukhim, Rebecca S.; Ivy, Dunbar D.; Manchester, David



[Cotard syndrome].  


We describe a schizophrenic paranoid patient, who developed a unique clinical state that fits the Cotard syndrome. The article deals with the course of the disease, the clinical characteristics, the difficulties of treatment. The process of diagnosis and its difficulties, and the rareness of the symptoms are emphasized. Various etiological causes of the syndrome are discussed. PMID:8682373

Simovici, G; Bauer, A



Hepatorenal Syndrome  

Microsoft Academic Search

Hepatorenal syndrome (HRS) is a serious event during the course of decompensated cirrhosis. Although the most characteristic feature of the syndrome is a functional renal failure due to intense renal vasoconstriction, it is a more generalized process affecting the heart, brain and splanchnic organs. There are two types of HRS. Type 1 HRS is characterized by a rapidly progressive impairment

Mónica Guevara; Pere Ginès



Cockayne's syndrome  

Microsoft Academic Search

The patient discussed is a seven year old boy with Cockayne's syndrome, deafness, retinal “salt and pepper”-like abnormalities, microcephaly, retarded growth and abnormal appearance, but normal intelligence. This suggests that mental retardation is not inevitably associated with Cockayne's syndrome.

M. Lanning; S. Similä



Lemierre syndrome  

Microsoft Academic Search

Lemierre syndrome is a disease that presents with oropharyngeal infection, sepsis, internal jugular vein thrombosis, and septic emboli with the Gram-negative organism Fusobacterium necrophorum cultured as the etiologic agent. Clindamycin, metronidazole and ampicillin-sulbactam are effective antibiotic treatments, although the length of treatment has not been firmly established. The syndrome is seen less frequently in the current age of antibiotics. It

Milan D. Nadkarni; Julie Verchick; James C. O’Neill



Proteus Syndrome  

Microsoft Academic Search

A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. Up to 22.6 kg of tumorous tissue was excised. This syndrome was first described in 1983. The name Proteus comes from a Greek mythical sea god who was able to change his

Hiroshi Yasuda; Osamu Yamamoto; Hisatada Hirokawa; Masakazu Asahi; Masamichi Kashimura; Akinori Sakai



The ICD Diagnoses of Fetishism and Sadomasochism  

Microsoft Academic Search

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

Odd Reiersøl; Svein Skeid



Blood Pressure, Heart Tones, and Diagnoses  

Microsoft Academic Search

\\u000a The primary purpose of this chapter is to familiarize the reader with the basic concepts of blood pressure, heart tones, and\\u000a some common diagnoses. It remains the general consensus that even the most sophisticated electronic monitors cannot fully\\u000a reduce the need for sound clinical skills like proper patient inspection, palpation, percussion, and auscultation. Furthermore,\\u000a it is important to reinforce the

George Bojanov


Measurement environment for diagnosing the Parkinson's disease  

Microsoft Academic Search

Movement disorders indicate several diseases before other diagnostic methods could reveal them. This is true also in the case of Parkinson's disease, PD. A measurement technique (the movement patterns to be analysed, the necessary measurement set-up and evaluation algorithms) is described that ran be used to diagnose PD. Both simple (e.g. turn over) and complex (e.g. band waving during gait)

A. Jobbagy; P. Harcos; M. Tarczy



God Diagnosed with Narcissistic Personality Disorder  

Microsoft Academic Search

This article endorses the contention that God suffers from a mental disorder, but challenges J. Henry Jurgens’ diagnosis of\\u000a bipolar disorder as reported in The Onion (“God diagnosed with bipolar disorder”, 2001) and proposes narcissistic personality disorder instead. It uses the diagnostic criteria for narcissistic personality disorder\\u000a from The Diagnostic and Statistical Manual of Mental Disorders—DSM-IV (American Psychiatric Association, Washington,

Donald Capps



Test Differences in Diagnosing Reading Comprehension Deficits  

PubMed Central

We examined the implications of test differences for defining and diagnosing comprehension deficits using reading comprehension tests. We had 995 children complete the Gray Oral Reading Test-3, the Qualitative Reading Inventory-3, the Woodcock-Johnson Passage Comprehension-3, and the Peabody Individual Achievement Test, and compared which children were identified by each test as being in the lowest 10%. Although a child who performs so poorly might be expected to do poorly on all tests, we found that the average overlap between tests in diagnosing comprehension difficulties was only 43%. Consistency in diagnosis was greater for younger children, when comprehension deficits are due to weaker decoding skills, than for older children. Inconsistencies between tests were just as evident when identifying the top performers. The different children identified as having a comprehension deficit by each test were compared on four profile variables - word decoding skill, IQ, ADHD symptoms, and working memory skill – to understand the nature of the different deficits assessed by each test. Theoretical and practical implications of these test differences in defining and diagnosing comprehension deficits are discussed.

Keenan, Janice M.; Meenan, Chelsea E.



Test Differences in Diagnosing Reading Comprehension Deficits.  


The authors examined the implications of test differences for defining and diagnosing comprehension deficits using reading comprehension tests. They had 995 children complete the Gray Oral Reading Test-3, the Qualitative Reading Inventory-3, the Woodcock-Johnson Passage Comprehension-3, and the Peabody Individual Achievement Test and compared which children were identified by each test as being in the lowest 10%. Although a child who performs so poorly might be expected to do poorly on all tests, the authors found that the average overlap between tests in diagnosing comprehension difficulties was only 43%. Consistency in diagnosis was greater for younger children, when comprehension deficits are the result of weaker decoding skills, than for older children. Inconsistencies between tests were just as evident when identifying the top performers. The different children identified as having a comprehension deficit by each test were compared on four profile variables-word decoding skill, IQ, ADHD symptoms, and working memory skill-to understand the nature of the different deficits assessed by each test. Theoretical and practical implications of these test differences in defining and diagnosing comprehension deficits are discussed. PMID:22442251

Keenan, Janice; Meenan, Chelsea E



Diagnosing and managing hip problems in childhood.  


The hip and proximate tissues are implicated in a variety of childhood conditions, and in the differential diagnosis of many more. To a large extent the possible diagnoses are limited by the child's age, an accurate history and thorough examination. Developmental dysplasia of the hip (DDH) is a spectrum disorder of joint development and/or instability. It is a major cause of morbidity in children and adults. It can be classified into three types: neuromuscular; teratological; and idiopathic (the most common type). Examination of the hips is carried out neonatally using Ortolani and Barlow manoeuvres to look for dislocation. These tests have high sensitivity but low specificity, and this is one reason why DDH is still picked up late. When a limping child presents it is important that the less common diagnoses, including infection, neoplasia and slipped femoral epiphysis are kept in mind and urgent referral made if necessary. In one study, where a diagnosis was made, the hip joint was the culprit in the majority of cases. Of these, 40% were diagnosed as irritable hip or transient synovitis. Other inflammatory arthritides/tendinoses accounted for 3.2%, Perthes' disease 2%, and infection 3.6%. Any age group is vulnerable to infection such as septic arthritis, osteomyelitis and pelvic pyomyositis. Early diagnosis and treatment, comprising antibiotics with or without surgery, is critical. In the limping child, fever with focal tenderness or restricted range of movement is indicative of infection unless investigations show otherwise. PMID:23905285

Huntley, James S



Syndromic Craniosynostosis  

PubMed Central

Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.

Derderian, Christopher; Seaward, James



[Rheumatoid arthritis--clinical picture and important differential diagnoses].  


Rheumatoid Arthritis is a chronic disease of unknown origin. It affects the joints, but also virtually every other organ. Its cause remains still unknown. The prevalence rate is approximately 1% worldwide, with some racial differences. Women are affected three times more often than men. Symmetric swelling of the joints and a substantial morning stiffness are the typical signs of the disease. Most often the wrists, MCP and PIP joints, and the ankle and MTP joints are affected. The arthritis is usually progressive, leading to destructive changes of the affected joints. Neurological symptoms can occur following destruction of the atlantoaxial joint. Diagnosis and classification of the disease follows the 1987 revised American Rheumatism Association criteria, but for practical purposes the approach described by Visser et al. seems more useful, calculating odds ratios for persisting and erosive disease. Effective treatment can start earlier with this approach. Conventional radiology and serum markers, especially the newer antibodies against CCP are important aids in diagnosing rheumatoid arthritis. Diseases to be separated from rheumatoid are other arthritides of autoimmune origin, the cristal arthropathies, vasculitides, septic and parainfectious arthritides, osteoarthritis, and paraneoplastic syndromes. PMID:15945214

Vogt, Thomas



Difficult Diagnoses in Hyperkinetic Disorders - A Focused Review  

PubMed Central

Hyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena. In this focused review there is a discussion of difficult issues in hyperkinesias. The first one is the differential diagnosis between essential tremor (ET) and Parkinson’s disease (PD). They are readily distinguishable in the majority of patients but in a few subjects ET coexist with parkinsonian features whose underlying mechanism remains to be determined. The second topic of the review is dystonic tremor. Although increasingly diagnosed and reported as accounting for the majority of scans without evidence of dopaminergic deficits, its diagnostic criteria are ill-defined and differentiation from PD and ET can be challenging. In the last section, there is a discussion of the differential diagnosis of Sydenham’s chorea (SC), the most common cause of chorea in children. In a few patients, vascular disease, systemic lupus erythematosus, and primary antiphospholipid antibody syndrome can mimic SC.

Cardoso, Francisco



Co-occurring diagnoses among FMR1 premutation allele carriers  

PubMed Central

Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18–50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.

Hunter, JE; Rohr, JK; Sherman, SL



Sudden Clinical Development Of Ectopic Cushing's Syndrome Due To A Non-Catecholamine Producing Pheochromocytoma Sudden Clinical Development Of Ectopic Cushing's Syndrome Due To A Non-Catecholamine Producing Pheochromocytoma  

Microsoft Academic Search

To our knowledge, there is only one previous report of a patient with Cushing's syndrome caused by a non- secreting adrenal pheochromocytoma. We now present a 54 year old female who developed sudden ectopic Cushing's syndrome in a previously diagnosed but apparently nonfunctioning adrenal incidentaloma. The incidentaloma was noted one year prior to her presentation with Cushing's syndrome. She was

Shannon Comley Sood; Matthew Leinung; Ming-Tseh Lin; Timothy Jennings; Daniel W. Lee



Down's syndrome and early cataract  

PubMed Central

Aims To estimate the occurrence of early cataract among patients with Down's syndrome and to evaluate the clinical characteristics of the cases. Methods Cases with Down's syndrome were ascertained from a cohort of all Danish children between 0 and 17?years of age, who were diagnosed with cataract during the period 1977–2001 (n?=?1027). Information on the patients was obtained from the medical records. Results Of the total of 1027 cases with non?traumatic, non?acquired cataract there were 29 cases (13 males, 16 females) with Down's syndrome (2.8%). This corresponds to an occurrence of early cataract among patients with Down's syndrome of 1.4%; 27 had bilateral cataract and two had unilateral cataract. Half of the patients (n?=?14) underwent cataract surgery, of whom two had bilateral primary lens implantation. 10 patients had bilateral cataract observed soon after birth, and five of these underwent cataract surgery within the first 6?months of life. Conclusion The frequency of early cataract among children with Down's syndrome is estimated to be 1.4%, with cataracts requiring surgery during childhood being even rarer. In one third of the 29 cases, bilateral cataract was detected in the neonatal period.

Haargaard, B; Fledelius, H C



The critical monosomic segment involved in 4p- syndrome: A high-resolution banding study on five inherited cases  

Microsoft Academic Search

Summary In an attempt to determine the critical monosomic segment involved in 4p- syndrome, we studied the precise breakpoints of five inherited cases with the syndrome using a high-resolution banding technique. The 5 patients ranged in age at diagnosis from newborn to 15 months, 4 of whom could be clinically diagnosed as having 4p- syndrome. Common clinical features included mental

Kouji Narahara; Yusuke Himoto; Yuji Yokoyama; Ryozo Kasai; Akira Hata; Kiyoshi Kikkawa; Yukio Takahashi; Yoshiharu Wakita; Shunsuke Kimura; Hiroshi Kimoto



A Case Report of Reiter's Syndrome with Progressive Myelopathy  

PubMed Central

Reiter's syndrome belongs to the family of spondyloarthropathies that usually present with a triad of arthritis, urethritis, and uveitis. The diagnostic criteria include clinical, radiological, and genetic findings, and the response to treatment. Nervous system involvement in Reiter's syndrome is extremely rare. We report here on a 36-year-old man who initially presented with progressive cervical myelopathy and was diagnosed as Reiter's syndrome 2 years later. The myelopathy was stable after treatment with methotrexate and sulfasalazine. This case suggests that Reiter's syndrome can present as progressive myelopathy and should be considered in the differential diagnosis of treatable myelopathies.

Kim, Soo Kyoung; An, Jae Young; Park, Min Soo



Gorlin-Goltz syndrome: a rare case report.  


Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographical examinations in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article describes an 11-year-old boy with GS. PMID:23814215

Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita



A rare cause of dyspnoea: the LEOPARD syndrome.  


The LEOPARD syndrome is a rare hereditary disorder in Asian countries. This syndrome involves complex malformations and other features. Though the LEOPARD syndrome is rare, diagnosis is important since it can be related with serious cardiac ailments. Patients must be followed up regularly in order to reduce the risk of sudden death which is the most severe complication. The study presents the case of a 23-year-old woman who had dyspnoea on daily exercises. She had multiple lentigines, cardiac anomalies (apical hypertrophic cardiomyopathy, left ventricular hypertrophy and pulmonary stenosis), ocular hypertelorism and abnormal electrocardiographic findings. Based on the findings, the patient was diagnosed with the LEOPARD syndrome. PMID:23905457

Demir, Serafettin; Karakaya, Zeynep; Sagay, Serkan



Brugada Syndrome  


... Adult men are more frequently diagnosed than are women. In young children and adolescents, however, boys and girls ... a> Guidelines for sites linking to Advertisement ... heart health in just 10 minutes a day Heartburn, ulcers, IBS? ...


Velocardiofacial syndrome.  

PubMed Central

Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6

Pike, A. C.; Super, M.



Trisomy 9 Mosaicism Diagnosed In Utero  

PubMed Central

We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR), each of which resulted in an intrauterine fetal demise (IUFD) in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

Takahashi, Hironori; Hayashi, Satoshi; Miura, Yumiko; Tsukamoto, Keiko; Kosaki, Rika; Itoh, Yushi; Sago, Haruhiko



Definition, Klassifikation und Diagnose des Fibromyalgiesyndroms  

Microsoft Academic Search

Zusammenfassung\\u000a Hintergrund  Eine interdisziplinäre Leitlinie auf Entwicklungsstufe S3 der Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften\\u000a (AWMF – systematische Literatursuche und -bewertung, Logikanalyse, formaler Konsensusprozess) zu Definition, Klassifikation,\\u000a Diagnose, Verlauf und Prognose chronischer Schmerzen in mehreren Körperregionen („chronic widespread pain“, CWP) und des Fibromyalgiesyndroms\\u000a (FMS) wurde in Kooperation von 10 medizinischen bzw. psychologischen Fachgesellschaften und 2 Patientenselbsthilfeorganisationen\\u000a erstellt.\\u000a \\u000a \\u000a \\u000a Methodik  Eine Literatursuche wurde unter Benutzung

W. Eich; W. Häuser; E. Friedel; A. Klement; M. Herrmann; F. Petzke; M. Offenbächer; M. Schiltenwolf; C. Sommer; T. Tölle; P. Henningsen



Radiation-induced moyamoya syndrome  

SciTech Connect

Purpose: The moyamoya syndrome is an uncommon late complication after radiotherapy (RT). Methods and Materials: A PubMed search of English-language articles, with radiation, radiotherapy, and moyamoya syndrome used as search key words, yielded 33 articles from 1967 to 2002. Results: The series included 54 patients with a median age at initial RT of 3.8 years (range, 0.4 to 47). Age at RT was less than 5 years in 56.3%, 5 to 10 years in 22.9%, 11 to 20 years in 8.3%, 21 to 30 years in 6.3%, 31 to 40 years in 2.1%, and 41 to 50 years in 4.2%. Fourteen of 54 patients (25.9%) were diagnosed with neurofibromatosis type 1 (NF-1). The most common tumor treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were optic-pathway glioma. The average RT dose was 46.5 Gy (range, 22-120 Gy). For NF-1-positive patients, the average RT dose was 46.5 Gy, and for NF-1-negative patients, it was 58.1 Gy. The median latent period for development of moyamoya syndrome was 40 months after RT (range, 4-240). Radiation-induced moyamoya syndrome occurred in 27.7% of patients by 2 years, 53.2% of patients by 4 years, 74.5% of patients by 6 years, and 95.7% of patients by 12 years after RT. Conclusions: Patients who received RT to the parasellar region at a young age (<5 years) are the most susceptible to moyamoya syndrome. The incidence for moyamoya syndrome continues to increase with time, with half of cases occurring within 4 years of RT and 95% of cases occurring within 12 years. Patients with NF-1 have a lower radiation-dose threshold for development of moyamoya syndrome.

Desai, Snehal S. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States); Paulino, Arnold C. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States)]. E-mail:; Mai, Wei Y. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States); Teh, Bin S. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States)



Still's disease, lupus-like syndrome, and silicone breast implants. A case of 'ASIA' (Shoenfeld's syndrome).  


In recent years, four conditions, siliconosis, Gulf War syndrome (GWS), macrophagic myofasciitis syndrome (MMF) and post-vaccination phenomena, were linked to a previous exposure to an adjuvant, suggesting a common denominator, and it has been proposed to incorporate comparable conditions under a common syndrome entitled Autoimmune/inflammatory Syndrome Induced by Adjuvants (ASIA). We report a case of a female who at the age of 11 years was diagnosed with Still's disease. At the age of 22 she underwent silicone breast implants and presented with a transient lupus-like syndrome. Then, at 25 years old she had a severe activation of Still's disease in association with rupture of silicone breast implants. When the prostheses were removed, the clinical picture improved. This case fulfills the criteria for ASIA and complements seven previous reports of Still's disease in association with silicone breast implants. PMID:22235044

Jara, L J; Medina, G; Gómez-Bañuelos, E; Saavedra, M A; Vera-Lastra, O



A case of Pallister-Killian syndrome associated with West syndrome.  


We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome. PMID:17765815

Yamamoto, Hitoshi; Fukuda, Miho; Murakami, Hiroshi; Kamiyama, Noriko; Miyamoto, Yusaku



A clinical investigation of obstructive sleep apnea syndrome (OSAS) and upper airway resistance syndrome (UARS) patients  

Microsoft Academic Search

Objective: (i) Evaluation of the clinical differences and similarities presented by patients diagnosed as OSAS and UARS subjects. (ii) Evaluation of the ability of a sleep disorders specialist to dissociate the two syndromes based upon clinical evaluation.Population: 314 subjects were included. They were referred to a sleep disorders clinic with complaints of loud snoring during a 3 month period.Method: The

Christian Guilleminault; Jed E Black; Luciana Palombini; Maurice Ohayon



Parent Report of Community Psychiatric Comorbid Diagnoses in Autism Spectrum Disorders  

PubMed Central

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.

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



Parent report of community psychiatric comorbid diagnoses in autism spectrum disorders.  


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

Rosenberg, Rebecca E; Kaufmann, Walter E; Law, J Kiely; Law, Paul A



The irritable bowel syndrome.  

PubMed Central

The irritable bowel syndrome (IBS) is an extremely common disorder. It is believed to occur usually after emotional stress and perhaps because of behavioural and dietary factors. There is definite evidence of disturbed gastrointestinal function associated with IBS; however, a diagnostic marker remains elusive. The current trend is to diagnose IBS on the basis of the patient's history and the findings at physical examination and after minimal investigation. The physician-patient relationship remains the most important factor in the management of IBS. Long-term benefit may be achieved with the use of dietary fibre supplements or stool-bulking agents. The evaluation of currently available drugs is difficult because of the placebo effect. Drug therapy should be aimed at specific symptoms and used mainly during the initial phase of treatment.

Collins, S M



Sturge-Weber syndrome.  


Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) is a rather uncommon congenital condition characterized by the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions of the face, and sometimes the skull, jaws, and oral soft tissues. A case of portwine stain with intraoral gingival hemangioma is presented. There were no other systemic manifestations. Patient reported with a complaint of localized tumor-like swelling in gums. Based on the presence of sharply demarcated vascular lesion unilaterally on the face and with ipsilateral intraoral vascular hyperplasia in the lip and gingiva, a variant of encephalotrigeminal angiomatosis was diagnosed. Ultrasound Doppler flowmetry was used to determine the blood flow. Dental management included plaque control instructions, scaling, root planning, and excision of the lesion done under general anesthesia. Close follow-up and meticulous plaque control have kept the oral condition under fairly good control. PMID:23066288

Manivannan, Natarajan; Gokulanathan, Subramanium; Ahathya, Ramakrishnan Swamy; Gubernath; Daniel, Rajkumar; Shanmugasundaram



Caudal duplication syndrome.  


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

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



Caudal Duplication Syndrome  

PubMed Central

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.

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



Keyhole aqueduct syndrome.  


Communicating syringes confined to the brain stem are extraordinarily rare. Two patients, presenting with signs and symptoms of cerebellar dysfunction, later developed evidence of brain-stem disease with dysarthria, nystagmus, deafness, and internuclear ophthalmoplegia. The condition of both patients had been diagnosed clinically as multiple sclerosis, but at autopsy they had a striking keyhole-shaped syrinx in the midbrain and upper pons, which communicated with the aqueduct and fourth ventricle without associated syringomyelia. In addition, both patients had marked atrophy and gliosis of the cerebellum, one with extension of the syrinx into cerebellar folia. The unique character of these lesions coupled with the similarity of the clinical features of the cases prompted us to name this disorder--"keyhole aqueduct syndrome." PMID:3741209

de la Monte, S M; Horowitz, S A; Larocque, A A; Richardson, E P



Noonan syndrome  


... about 25% of cases) Sagging eyelids ( ptosis ) Short stature Small penis Undescended testicles Unusual chest shape (usually ... hormone has been used successfully to treat short stature in some persons with Noonan syndrome.


Klinefelter syndrome  


... syndrome is the presence of an extra X chromosome in a male. ... Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two sex chromosomes determine if you ...


Caplan syndrome  


... who have been exposed to mining dust containing coal. The lung disease is called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... small lung lumps (nodules) and mild asthma-like airway disease. ...


[Sandifer syndrome].  


Authors report a Sandifer's Syndrome: dystonic postures as a pseudoneurologic symptoms, associated to disorders of the hiatus. Its consideration is of importance taking it into account in order to avoid diagnostic errors unnecesary investigations and wrong treatments. PMID:6712022

Gutiérrez Macías, A; Rodríguez Peñalver, M; Márquez Contreras, M C; Martínez Infante, J; Torralba Gascón, A; Rodríguez López, F



Levator Syndrome  


... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome