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1

Genetics Home Reference: Smith-Lemli-Opitz syndrome  

MedlinePLUS

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

2

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. PMID:21777499

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

2012-01-01

3

The Smith-Lemli-Opitz syndrome  

PubMed Central

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

Kelley, R.; Hennekam, R.

2000-01-01

4

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

PubMed Central

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

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

2014-01-01

5

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.  

PubMed

Since the discovery in 1993 that Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol biosynthesis, human disorders associated with additional enzymes involved in the conversion of lanosterol to cholesterol have been identified. This review will focus primarily on the clinical aspects of these disorders, highlighting newly described syndromes, such as SC4MOL deficiency and CK syndrome. We will also provide clinical descriptions of additional cases for extremely rare disorders, such as desmosterolosis. We will compare and contrast the findings with those found in SLOS and briefly discuss possible mechanisms of disease pathogenesis. PMID:23042573

Herman, Gail E; Kratz, Lisa

2012-11-15

6

Mutational spectrum of Smith-Lemli-Opitz syndrome.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies. SLOS is caused by mutations in the DHCR7 gene, which encodes 7-dehydrocholesterol reductase, the enzyme that catalyzes the final step in cholesterol biosynthesis. We report on 154 currently known mutations in DHCR7 identified in patients affected with SLOS and discuss their coding consequences. These 154 mutations include 130 missense, 8 nonsense, 8 deletions, 2 insertions, 1 indel, and 5 splice site mutations. Using information available from published case reports and from patients identified in our clinical diagnostic laboratory, we analyzed correlations between genotype, clinical presentation and 7-dehydrocholesterol level. PMID:23042628

Waterham, Hans R; Hennekam, Raoul C M

2012-11-15

7

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.  

PubMed

The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder. PMID:23042585

Diaz-Stransky, Andrea; Tierney, Elaine

2012-11-15

8

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. SLOS is inherited in an autosomal recessive pattern. It is characterized by prenatal and postnatal growth retardation, microcephaly, a variable degree of intellectual disability that encompasses normal intelligence to severe intellectual deficiency, and multiple major and minor malformations. External malformations include distinctive facial features, cleft palate, postaxial polydactyly, 2-3 syndactyly of the toes, and underdeveloped external genitalia in males, while internal anomalies may affect every organ system. The clinical spectrum is wide, and rare individuals have been described with normal development and only minor malformations. The clinical diagnosis of SLOS is confirmed by demonstrating an abnormally elevated concentration of the cholesterol precursor, 7DHC, in serum or other tissues, or by the presence of two DHCR7 mutations. The enzymatic deficiency results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the physical and behavioral phenotype of SLOS, the diagnostic approaches, the natural history from the prenatal period to adulthood, and current understanding of the pathophysiology of SLOS. PMID:23059950

Nowaczyk, Ma?gorzata J M; Irons, Mira B

2012-11-15

9

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: johannes.berger@meduniwien.ac.at

2006-06-23

10

Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, and intellectual disability. It is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol-delta-7-reductase, which results in increased serum levels of 7-dehydrocholesterol (7-DHC), and decreased levels of cholesterol. This study assesses the prevalence of sleep problems in patients with SLOS. The study group comprised 18 subjects with SLOS, ages 2-31 years (median 10.7 ± 8.5 years). Parents completed several questionnaires (Intake Demographic Form; Pediatric Sleep Questionnaire; Pediatric Daytime Sleepiness Scale). The SLOS subjects had symptoms of sleep-disordered breathing (50% snoring; 66.7% mouth breathing), problems with sleep onset [difficulty falling asleep (61.1%) sleep onset time >30 min (62%)], sleep maintenance [wake up screaming (61.1%), waking up more than twice (44.4%), having trouble falling back to sleep (66.7%), waking up early in the morning (61.1%), and restless sleep (50%)]. The subjects with SLOS needed parents in the room to fall asleep (50%), watch TV or listen to music to fall asleep (44.4%), and described bed sharing (33.3%), indicating sleep-anxiety and sleep-associations. Symptoms of excessive-daytime-sleepiness were frequently reported [un-refreshed in the morning (38.9%), daytime sleepiness (44.4%), and daytime naps (55.6%)]. Parents frequently observed difficulty of organizing tasks (66.7%), and easy distractibility (88.9%). Sleep problems such as sleep-disordered breathing, sleep-related anxiety and sleep associations, disturbed sleep patterns at night, and excessive daytime sleepiness are frequent in children with SLOS. PMID:21626671

Zarowski, Marcin; Vendrame, Martina; Irons, Mira; Kothare, Sanjeev V

2011-07-01

11

Adrenal function in Smith-Lemli-Opitz Syndrome  

PubMed Central

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

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

2012-01-01

12

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation  

Microsoft Academic Search

SMITH-LEMLI-OPITZ SYNDROME, a syndrome of multiple malformations and mental re- tardation that for years was relegated to the atlases of genetic esoterica, was re- cently found to be a relatively common inborn error of metabolism. The underly- ing defect is absent or deficient activity of 7-dehydrocholesterol- ? 7 -reductase, the enzyme catalysing the final step of cholesterol synthesis. The discovery

Malgorzata J. M. Nowaczyk; Donald T. Whelan; Timothy W. Heshka; Robert E. Hill

13

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

PubMed

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

2010-12-01

14

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

2006-01-01

15

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. PMID:9683613

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

1998-01-01

16

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

PubMed Central

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

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

2012-01-01

17

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.  

PubMed

This issue of Seminars of Medical Genetics features a series of articles on Smith-Lemli-Opitz syndrome and other disorders of endogenous cholesterol synthesis. Clinically, many of these disorders have been known for decades, but only in the last 20 years have the molecular genetic and enzymatic defects underlying these disorders been delineated. As a group, disorders of cholesterol synthesis are relatively common and contribute significantly to the burden of human disease. Leading experts in their fields present clinical, behavioral, molecular, and therapeutic aspects of these disorders. PMID:23042602

Nowaczyk, Ma?gorzata J M; Cunniff, Christopher

2012-11-15

18

The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.  

PubMed

Thirty years after its clinical delineation in humans and its teratologic simulation in rats, a Garrodian error of metabolism was discovered in the autosomal recessive RSH/SLO syndrome, namely defective conversion of 7-dehydrocholesterol to cholesterol due to the mutant 7-dehydrocholesterol reductase. This opened the door to the study of several other defects of sterol biosynthesis in humans and the creation of animal "models." The gross discrepancy between expected and observed birth prevalence suggests high embryolethality. The discovery of the role of cholesterol in the synthesis of the morphogen sonic hedgehog has greatly advanced our understanding of mammalian development. PMID:23059855

Opitz, John M; Furtado, Larissa V

2012-11-15

19

Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.  

PubMed

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

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

2012-11-15

20

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography\\/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts  

Microsoft Academic Search

A method is described for quantification of 7-dehydrocholesterol (7DHC) and other neutral sterols by gas chromatography\\/mass spectrometry for diagnosis of Smith-Lemli-Opitz syndrome, an apparent primary defect of cholesterol biosynthesis associated with low plasma levels of cholesterol and high levels of its precursor, 7DHC. Results are summarized for specimens from normal controls and from 40 patients with Smith-Lemli-Opitz syndrome (SLOS). Whereas

Richard I. Kelley

1995-01-01

21

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography\\/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts  

Microsoft Academic Search

A method is described for quantification of 7-dehydrocholesterol (7DHC) and other neutral sterols by gas chromatography\\/mass spectrometry for diagnosis of Smith-Lemli-Opitz syn- drome, an apparent primary defect of cholesterol biosynthesis associated with low plasma levels of cholesterol and high levels of its precursor, 7DHC. Results are summarized for specimens from normal controls and from 40 patients with Smith-Lemli-Opitz syndrome (SLOS).

Richard I. Kelley

22

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. PMID:20635399

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

2011-01-01

23

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

1994-09-01

24

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. PMID:17197219

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

2007-01-01

25

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

PubMed Central

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

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

2013-01-01

26

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study  

Microsoft Academic Search

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume

1991-01-01

27

Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.  

PubMed

During the evolution of multicellularity and attendant processes of development, cholesterol played a key role in the formation of the plasma membrane and outer mitochondrial membrane of every cell in the organism. Later functions include pivotal involvement in steroid, bile acid, and vitamin D metabolism and myelination of the nervous system. In the CNS myelination does not begin until the third trimester, and subcortical myelination not until after birth. The cholesterol of the cell membrane of the ovum is maternally derived. It is not known when the zygote begins making its own cholesterol during morphogenesis and histogenesis, but it must occur early to keep up with the dramatic rate of cell division in the embryo. Thus, it is a startling surprise that human embryos and fetuses apparently able to synthesize little cholesterol (because of a presumed defect of the delta 5,7-sterol, delta 7-reductase that converts 7-dehydrocholesterol (7-DHC) into cholesterol) frequently live to term and, rarely, may be so mildly affected as to attend school with only mild MR. The discovery by G. Stephen Tint and his co-workers of the apparent 7-DHC reductase deficiency makes the RSH (Smith-Lemli-Opitz) syndrome the first true metabolic malformation syndrome. A teratological animal model which has been known for 30 years now appears applicable to the RSH/SLO syndrome. A multidisciplinary NICHD conference held on September 20-21, 1993 reviewed the numerous implications of this discovery and agreed unanimously that research in this field be given highest priority in order to better understand cholesterol synthesis in the mammalian brain, cholesterol transport from mother to embryo and fetus, pre- and postnatal metabolic compensation in structure and function for a profound block in cholesterol synthesis, the nature of the blood-brain barrier for cholesterol, treatment of affected infants, children, and adults, structure and genetic specification of a 7-DHC reductase enzyme (which has never been purified!) and its evolution, the variability of the syndrome and whether it is genetically homo- or heterogeneous, the population genetics of the RSH syndrome, possible selective advantages (or disadvantages) of heterozygotes, and means of newborn screening, carrier detection, and prenatal diagnosis. PMID:7632194

Opitz, J M; de la Cruz, F

1994-05-01

28

Retinal Degeneration in a Rodent Model of Smith-Lemli-Opitz Syndrome  

PubMed Central

Objective To assess the electrophysiologic, histologic, and biochemical features of an animal model of Smith-Lemli-Opitz syndrome (SLOS). Methods Sprague-Dawley rats were treated with AY9944, a selective inhibitor of 3?-hydroxysterol-?7-reductase (the affected enzyme in SLOS). Dark- and light-adapted electroretinograms were obtained from treated and control animals. From each animal, 1 retina was analyzed by microscopy, and the contralateral retina plus serum samples were analyzed for sterol composition. The main outcome measures were rod and cone electroretinographic amplitudes and implicit times, outer nuclear layer (ONL) thickness, rod outer segment length, pyknotic ONL nucleus counts, and the 7-dehydrocholesterol/ cholesterol mole ratio in the retina and serum. Results By 10 weeks’ postnatal age, rod and cone electroretinographic wave amplitudes in AY9944-treated animals were significantly reduced and implicit times were significantly increased relative to controls. Maximal rod photoresponse and gain values were reduced approximately 2-fold in treated animals relative to controls. The ONL thickness and average rod outer segment length were reduced by approximately 18% and 33%, respectively, and ONL pyknotic nucleus counts were approximately 4.5-fold greater in treated animals relative to controls. The retinal pigment epithelium of treated animals contained massive amounts of membranous/lipid inclusions not routinely observed in controls. The 7-dehydrocholesterol/cholesterol mole ratios in treated retinas and serum samples were approximately 5:1 and 9:1, respectively, whereas the ratios in control tissues were essentially zero. Conclusions This rodent model exhibits the key biochemical hallmarks associated with SLOS and displays electrophysiologic deficits comparable to or greater than those observed in the human disease. Clinical Relevance These results predict retinal degeneration in patients with SLOS, particularly those with the more severe (type II) form of the disease, and may be more broadly relevant to other inborn errors of cholesterol biosynthesis. This animal model may also be of use in evaluating therapeutic treatments for SLOS and in understanding the slow phototransduction kinetics observed in patients with SLOS. PMID:15302661

Fliesler, Steven J.; Peachey, Neal S.; Richards, Michael J.; Nagel, Barbara A.; Vaughan, Dana K.

2010-01-01

29

Potential of sterol analysis by liquid chromatography - tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome  

PubMed Central

Background Smith-Lemli-Opitz syndrome (SLOS) is a severe disorder of cholesterol synthesis classically diagnosed prenatally by GC-MS analysis of sterols in amniotic fluid. In recognition of the current move towards tandem mass spectrometry (MS/MS) methodologies we present prototype LC-MS/MS methods for the accurate diagnosis of the disorder Methods 3?-Hydroxysterols in amniotic fluid are oxidised with cholesterol oxidase to their corresponding 3-ketones, which are then derivatised with Girard P (GP) hydrazine in a “one-pot” reaction. The resulting GP-hydrazones give an improved response in electrospray (ES)-MS/MS due to the presence of a charged quaternary nitrogen and are analysed by reversed-phase LC-ES-MS/MS. Both capillary LC-MS/MS and conventional LC-MS/MS formats are suitable, and the method is also applicable to paper absorbed blood spots. Results In a double blind analysis of 18 amniotic fluid samples comprising 6 SLOS and 12 controls, the 7+8-dehydrocholesterol (7+8-DHC) to cholesterol ratio was found to lie below 0.02 (range, 0.00 - 0.02: mean ± SD, 0.01 ± 0.007) in all control samples (intra assay variation 5.91%), and above 0.20 (range, 0.20 - 1.13: mean ± SD, 0.79 ± 0.35) in SLOS (intra assay variation 4.56%), corresponding to a difference in ratios between the two groups of a factor of at least 10. The limit of quantification was equivalent to 2 nL of amniotic fluid injected on-column. Conclusion Here we describe a “proof-of-concept” study for the prenatal diagnosis of SLOS. However, further developments will be necessary to automate sample handling and reduce chromatographic time in order to allow the methodology to be used for pre- and postnatal diagnosis. PMID:18556335

Griffiths, William J.; Wang, Yuqin; Karu, Kersti; Samuel, Emmanuel; McDonnell, Shane; Hornshaw, Martin; Shackleton, Cedric

2008-01-01

30

Smith-Lemli-Opitz Syndrome and Inborn Errors of Cholesterol Synthesis: Summary of the 2007 SLOS/RSH Foundation Scientific Conference Sponsored by the National Institutes of Health  

PubMed Central

In June 2007, the Smith-Lemli-Opitz/RSH Foundation held a scientific conference hosted jointly by Dr. Robert Steiner from Oregon Health & Science University (OHSU) and Dr. Forbes D. Porter from The Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD), National Institutes of Health. The main goal of this meeting was to promote interaction between scientists with expertise in cholesterol homeostasis, brain cholesterol metabolism, developmental biology, and oxysterol and neurosteroid biochemistry, clinicians researching and treating patients with Smith-Lemli-Opitz syndrome (SLOS), the patient support organization and families. This report summarizes the presentation and discussions at the conference, represents the conference proceedings, and is intended to foster collaborative research and ultimately improve understanding and treatment of SLOS and other inborn errors of cholesterol synthesis. PMID:19452638

Merkens, Louise S.; Wassif, Christopher; RN, Kristy Healy; Pappu, Anuradha S.; DeBarber, Andrea E.; Penfield, Jennifer A.; Lindsay, Rebecca A.; Roullet, Jean-Baptiste; Porter, Forbes D.; Steiner, Robert D.

2010-01-01

31

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

PubMed

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

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

2014-05-01

32

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. PMID:17714750

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

2007-01-01

33

Alterations in Membrane Caveolae and BKCa Channel Activity in Skin Fibroblasts in Smith-Lemli-Opitz Syndrome  

PubMed Central

The Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol synthesis caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthesis pathway. The immediate precursor to cholesterol synthesis, 7-dehydrocholesterol (7-DHC) accumulates in the plasma and cells of SLOS patients which has led to the idea that the accumulation of abnormal sterols and/or reduction in cholesterol underlies the phenotypic abnormalities of SLOS. We tested the hypothesis that 7-DHC accumulates in membrane caveolae where it disturbs caveolar bilayer structure-function. Membrane caveolae from skin fibroblasts obtained from SLOS patients were isolated and found to accumulate 7-DHC. In caveolar-like model membranes containing 7-DHC, subtle, but complex alterations in intermolecular packing, lipid order and membrane width were observed. In addition, the BKCa K+ channel, which co-migrates with caveolin-1 in a membrane fraction enriched with cholesterol, was impaired in SLOS cells as reflected by reduced single channel conductance and a 50 mV rightward shift in the channel activation voltage. In addition, a marked decrease in BKCa protein but not mRNA expression levels were seen suggesting post-translational alterations. Accompanying these changes was a reduction in caveolin-1 protein and mRNA levels, but membrane caveolar structure was not altered. These results are consistent with the hypothesis that 7-DHC accumulation in the caveolar membrane results in defective caveolar signaling. However, additional cellular alterations beyond mere changes associated with abnormal sterols in the membrane likely contribute to the pathogenesis of SLOS. PMID:21724437

Ren, Gongyi; Jacob, Robert F.; Kaulin, Yuri; DiMuzio, Paul; Xie, Yi; Mason, R. Preston; Tint, G. Stephen; Steiner, Robert D.; Roulett, Jean-Baptiste; Merkens, Louise; Whitaker-Mendez, Diana; Frank, Phillipe G.; Lisanti, Michael; Cox, Robert H.; Tulenko, Thomas N.

2011-01-01

34

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

PubMed Central

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

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

2013-01-01

35

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. PMID:22425966

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

2012-01-01

36

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

1995-06-01

37

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)

1994-05-01

38

Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.  

PubMed Central

The Smith-Lemli-Opitz syndrome is a recessive inherited disorder characterized by neurologic developmental defects and dysmorphic features in many organs. Recently, abnormal cholesterol biosynthesis with impaired conversion of 7-dehydrocholesterol to cholesterol has been discovered in homozygotes. To reproduce the biochemical abnormality, BM 15.766, a competitive inhibitor of 7-dehydrocholesterol-delta 7-reductase, the enzyme that catalyzes the conversion of 7-dehydrocholesterol into cholesterol was fed by gavage to rats. After 14 d, plasma cholesterol concentrations declined from 48 mg/dl to 16 mg/dl and 7-dehydro-cholesterol levels rose from trace to 17 mg/dl. Hepatocytes surrounding the central vein developed balloon necrosis. Stimulating cholesterol synthesis with cholestyramine followed by BM 15.766 produced an additional 40% decline (P < 0.05) in plasma cholesterol and 34% increase in 7-dehydrocholesterol levels compared to the inhibitor alone. Adding 2% cholesterol to the diet during the second week of BM 15.766 treatment increased plasma cholesterol threefold and decreased 7-dehydrocholesterol concentrations 55%. Hepatic 3-hydroxy-3-methylglutaryl co-enzyme A (HMG-CoA) reductase activity increased 73% with a 3.9-fold rise in mRNA levels but cholesterol 7 alpha-hydroxylase activity decreased slightly though mRNA levels increased 1.4 times with BM 15.766 treatment. These results demonstrate that BM 15.766 is a potent inhibitor of 7-dehydrocholesterol-delta 7-reductase. The model reproduces abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome and is useful to test different treatment strategies. Stimulating early steps of cholesterol synthesis worsens the biochemical abnormalities while feeding cholesterol inhibits abnormal synthesis, improves the biochemical abnormalities and prevents liver damage. Images PMID:7814648

Xu, G; Salen, G; Shefer, S; Ness, G C; Chen, T S; Zhao, Z; Tint, G S

1995-01-01

39

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?  

PubMed

RSH/Smith-Lemli-Opitz (SLOS) is an inborn error of metabolism with protean manifestations. Its exact incidence and prevalence are not known; however, the carrier rate for the most frequently occurring mutation, the null mutation IVS8-1G > C, is approximately 1 in 100 for the Caucasian population in North America (1%) and possibly as high as 1 in 50 to 1 in 30 in Central European populations (2-3.3%). Based on the allele frequencies and the proportion of this mutation observed in various patient populations, the expected incidence of RSH/SLOS in those populations was calculated and reported to be between 1 in 1,590 and 1 in 17,000. However, around the world the observed prevalence and incidence are much lower than those calculated from the individual mutation carrier rates observed in any given population. The discrepancy between the expected incidence and prevalence can be explained only in part by the neonatal and infancy deaths of the most severely affected children with RSH/SLOS and the under ascertainment of mild and atypical cases at the mild end of the spectrum. RSH/SLOS may be responsible for a high number of miscarriages. Recent observations estimate the prevalence of SLOS at 16 weeks of gestation as similar to that observed at birth (approximately 1 in 60,000) suggesting that either reduced fertility of carrier couples or losses of affected embryos or fetuses in the first trimester play a significant role in reducing the second trimester prevalence of RSH/SLOS. It is possible that the estimates of carrier rates based on population screening for the most commonly occurring mutations may not reflect the true carrier rates in the population. In order to reconcile the above-mentioned paradoxes, we propose a model based on a higher than observed carrier frequency of the most common mutation and on very high fetal loss of homozygotes for that mutation. PMID:16906538

Nowaczyk, Ma?gorzata J M; Waye, John S; Douketis, James D

2006-10-01

40

Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome[S  

PubMed Central

The phase behavior of egg sphingomyelin (ESM) mixtures with cholesterol or 7-dehydrocholesterol (7-DHC) has been investigated by independent methods: fluorescence microscopy, X-ray diffraction, and electron spin resonance spectroscopy. In giant vesicles, cholesterol-enriched domains appeared as large and clearly delineated domains assigned to a liquid-ordered (Lo) phase. The domains containing 7-DHC were smaller and had more diffuse boundaries. Separation of a gel phase assigned by X-ray examination to pure sphingomyelin domains coexisting with sterol-enriched domains was observed at temperatures less than 38°C in binary mixtures containing 10-mol% sterol. At higher sterol concentrations, the coexistence of liquid-ordered and liquid-disordered phases was evidenced in the temperature range 20°–50°C. Calculated electron density profiles indicated the location of 7-DHC was more loosely defined than cholesterol, which is localized precisely at a particular depth along the bilayer normal. ESR spectra of spin-labeled fatty acid partitioned in the liquid-ordered component showed a similar, high degree of order for both sterols in the center of the bilayer, but it was higher in the coexisting disordered phase for 7-DHC. The differences detected in the models of the lipid membrane matrix are said to initiate the deleterious consequences of the Smith-Lemli-Opitz syndrome. PMID:20147702

Staneva, Galya; Chachaty, Claude; Wolf, Claude; Quinn, Peter J.

2010-01-01

41

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism and moderate mental retardation to severe congenital malformation and intrauterine lethality. Mutations in the gene for Delta7-sterol reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis in the endoplasmic reticulum (ER), cause SLOS. We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene. Forty different SLOS mutations, some frequent, were identified. On the basis of mutation type and expression studies in the HEK293-derived cell line tsA-201, we grouped mutations into four classes: nonsense and splice-site mutations resulting in putative null alleles, missense mutations in the transmembrane domains (TM), mutations in the 4th cytoplasmic loop (4L), and mutations in the C-terminal ER domain (CT). All but one of the tested missense mutations reduced protein stability. Concentrations of the cholesterol precursor 7-dehydrocholesterol and clinical severity scores correlated with mutation classes. The mildest clinical phenotypes were associated with TM and CT mutations, and the most severe types were associated with 0 and 4L mutations. Most homozygotes for null alleles had severe SLOS; one patient had a moderate phenotype. Homozygosity for 0 mutations in DHCR7 appears compatible with life, suggesting that cholesterol may be synthesized in the absence of this enzyme or that exogenous sources of cholesterol can be used. PMID:10677299

Witsch-Baumgartner, M; Fitzky, B U; Ogorelkova, M; Kraft, H G; Moebius, F F; Glossmann, H; Seedorf, U; Gillessen-Kaesbach, G; Hoffmann, G F; Clayton, P; Kelley, R I; Utermann, G

2000-02-01

42

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

PubMed Central

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

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

2014-01-01

43

Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.  

PubMed

The Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder associated with multiple developmental malformations, is caused by a large spectrum of mutations in the DHCR7 gene. Mutations in the DHCR7 gene lead to a 7-dehydrocholesterol reductase deficiency, which is the final enzyme in the pathway of the cholesterol biosynthesis. Reduced cholesterol levels and elevated concentrations of its precursor 7-dehydrocholesterol in plasma and tissues are the major biochemical hallmarks of this disorder. In all patients a biochemical analysis of blood sterols using the gas chromatography/mass spectrometry was performed to confirm the clinical diagnosis of SLOS. We have also determined the mutational spectrum of DHCR7 gene in 17 Slovak patients. We identified six different mutations: nonsense mutation W151X and missense mutations V326L, L109P, G410S, R352Q, Y432C. Mutations W151X and V326L accounted for 76% of the SLOS alleles in Slovak population. The Slovak mutational spectrum is similar to that observed in other Central European countries. We also report simple polymerase chain reaction (PCR)-based assays that allow efficient and rapid mutation analysis. PMID:19390132

Kolejáková, Katarína; Petrovic, Robert; Futas, Ján; Turcáni, Peter; Durovcíková, Darina; Chandoga, Ján

2009-03-01

44

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

PubMed

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

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

2014-01-01

45

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

PubMed Central

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

2013-01-01

46

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

PubMed

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

2013-03-01

47

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

PubMed

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

2001-01-01

48

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

PubMed Central

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

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

2014-01-01

49

Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies syndrome caused by an abnormality in cholesterol metabolism. The clinical severity may vary from very mild to lethality in utero, making diagnosis difficult at both ends of the spectrum. Patients with severe SLOS might often escape diagnosis because they die before the correct diagnosis is made. We describe an Austrian family whose first child died neonatally with multiple congenital anomalies. The second pregnancy was terminated because the fetus showed similar severe anomalies ultrasonographically. A further pregnancy ended in a spontaneous first trimester abortion. Clinical diagnosis of SLOS was not considered until the autopsy of the fetus of the terminated pregnancy. Because no material for biochemical testing was available we performed mutational analysis of the DHCR7 gene from paraffin-embedded tissue and a Guthrie card focusing on mutations known to cause a severe SLOS phenotype. This demonstrated homozygosity for the mutation W151X, which has been demonstrated to be a functional null mutation. Our data confirm the concept that homozygosity for functional null alleles of the DHCR7 locus results in intrauterine or perinatal lethality. Furthermore, our findings suggest the usefulness of molecular studies of stored material in similarly affected cases where no material for biochemical analysis is available. PMID:11078571

Löffler, J; Trojovsky, A; Casati, B; Kroisel, P M; Utermann, G

2000-11-13

50

Treatments for Smith-Lemli-Opitz Syndrome and Other Disorders of Cholesterol Biosynthesis  

Cancer.gov

The National Institute of Child Health and Human Development, Section Molecular Dysmorphology is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize therapeutics that inhibit sphingolipid biosynthesis.

51

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients  

PubMed Central

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

2009-01-01

52

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

53

EFFECT OF DIETARY CHOLESTEROL ON BRAIN CHOLESTEROL IN DEVELOPING RATS  

E-print Network

., administered 4- 14 C cholesterol by intravenous injection for an average of 226 days to terminally ill patients and did not find any traces of labeled cholesterol in their brains and other nervous tissue after their natural death (31). Morell and Jurevics... differentiation. Clinical significance: Smith-Lemli-Opitz Syndrome Defects in cholesterol synthesis cause neurological disorder such as Smith-Lemli-Opitz syndrome (1, 68). This syndrome is present from birth but the symptoms do not become evident until...

Gottipati, Bhavana Sindhu

2008-04-29

54

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. PMID:20929975

Porter, Forbes D.; Herman, Gail E.

2011-01-01

55

Methods of diagnosing alagille syndrome  

DOEpatents

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

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

2004-03-09

56

Toxic Shock Syndrome: Diagnosing Recurrence  

PubMed Central

Toxic shock syndrome (TSS) is not easily recognized, despite explicit criteria for diagnosis. These include fever, rash, desquamation of palms and soles, and hypotension, plus involvement of up to seven other organ systems. The disease is associated with tampon use; Staphylococcus aureus is the most likely causative organism. Recurrence with menstruation is unique to this disease, although recurrences have been reported without the use of tampons and efforts to isolate Staphylococcus aureus from cultures may prove fruitless. In this case, a 27-year-old woman experienced recurrences which could be diagnosed only by hindsight. All suspected cases should be reported to the Laboratory Centre for Disease Control in Ottawa so that a true picture of this disease may be obtained. PMID:21283290

Hollingworth, Gary R.

1983-01-01

57

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

PubMed

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

2007-08-01

58

How Do Health Care Providers Diagnose Cushing's Syndrome?  

MedlinePLUS

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

59

How Do Health Care Providers Diagnose Fragile X Syndrome?  

MedlinePLUS

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

60

How Do Health Care Providers Diagnose Rett Syndrome?  

MedlinePLUS

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

61

How Do Health Care Providers Diagnose Down Syndrome?  

MedlinePLUS

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

62

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification  

Microsoft Academic Search

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

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

2005-01-01

63

How Do Health Care Providers Diagnose Turner Syndrome?  

MedlinePLUS

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

64

How Do Health Care Providers Diagnose Klinefelter Syndrome?  

MedlinePLUS

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

65

How Do Health Care Providers Diagnose Prader-Willi Syndrome?  

MedlinePLUS

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

66

[Primary hypogonadism associated with neuropsychiatric disorders].  

PubMed

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

Fehlow, P; Walther, F

1991-01-01

67

The Proteus syndrome: the Elephant Man diagnosed.  

PubMed Central

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 commonly seen in neurofibromatosis. Evidence indicates that Merrick suffered from the Proteus syndrome and had the following features compatible with this diagnosis: macrocephaly; hyperostosis of the skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses. Images FIG 1 FIG 2 FIG 3 FIG 4 PMID:3092979

Tibbles, J A; Cohen, M M

1986-01-01

68

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

E-print Network

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

69

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

2010-01-01

70

Shoulder Internal Rotation Elbow Flexion Test for Diagnosing Cubital Tunnel Syndrome  

Microsoft Academic Search

BackgroundShoulder internal rotation enhances symptom provocation attributed to cubital tunnel syndrome. We present a modified elbow flexion test—the shoulder internal rotation elbow flexion test—for diagnosing cubital tunnel syndrome.

Kensuke Ochi; Yukio Horiuchi; Aya Tanabe; Makoto Waseda; Yasuhito Kaneko; Takahiro Koyanagi

71

A novel mathematical approach to diagnose premenstrual syndrome.  

PubMed

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

Chattopadhyay, Subhagata; Acharya, U Rajendra

2012-08-01

72

Abnormalities of Cholesterol Metabolism in Autism Spectrum Disorders  

PubMed Central

Although Smith-Lemli-Opitz Syndrome (SLOS), a genetic condition of impaired cholesterol biosynthesis, is associated with autism [Tierney et al., 2001], the incidence of SLOS and other sterol disorders among individuals with autism spectrum disorders (ASD) is unknown. This study investigated 1) the incidence of biochemically diagnosed SLOS in blood samples from a cohort of subjects with ASD from families in which more than one individual had ASD and 2) the type and incidence of other sterol disorders in the same group. Using gas chromatography/mass spectrometry, cholesterol and its precursor sterols were quantified in one hundred samples from subjects with ASD obtained from the Autism Genetic Resource Exchange (AGRE) specimen repository. Although no sample had sterol levels consistent with SLOS, 19 samples had total cholesterol levels lower than 100 mg/dL, which is below the 5th centile for children over age 2 years. These findings suggest that, in addition to SLOS, there may be other disorders of sterol metabolism or homeostasis associated with ASD. PMID:16874769

Tierney, Elaine; Bukelis, Irena; Thompson, Richard E.; Ahmed, Khalid; Aneja, Alka; Kratz, Lisa; Kelley, Richard I.

2008-01-01

73

Autism spectrum disorder: an omics perspective.  

PubMed

Current directions in autism spectrum disorder (ASD) research may require moving beyond genetic analysis alone, based on the complexity of the disorder, heterogeneity and convergence of genetic alterations at the cellular/functional level. Mass spectrometry (MS) has been increasingly used to study CNS disorders, including ASDs. Proteomic research using MS is directed at understanding endogenous protein changes that occur in ASD. This review focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using MS, including fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS), genetic syndromes highly associated with ASD comorbidity. PMID:25311756

Woods, Alisa G; Wormwood, Kelly L; Wetie, Armand G Ngounou; Aslebagh, Roshanak; Crimmins, Bernard S; Holsen, Thomas M; Darie, Costel C

2015-02-01

74

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

ERIC Educational Resources Information Center

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

Vernon, McCay

1982-01-01

75

If I Had - An Irregular Heartbeat and Was Diagnosed with Long QT Syndrome  

MedlinePLUS Videos and Cool Tools

... significant that you have inherited this problem. What test are used to diagnose long QT syndrome? Dr. ... bloods to be sent off for the genetic tests that could confirm that I did indeed have ...

76

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

MedlinePLUS

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

77

Exhaled breath profiling for diagnosing acute respiratory distress syndrome  

PubMed Central

Background The acute respiratory distress syndrome (ARDS) is a common, devastating complication of critical illness that is characterized by pulmonary injury and inflammation. The clinical diagnosis may be improved by means of objective biological markers. Electronic nose (eNose) technology can rapidly and non–invasively provide breath prints, which are profiles of volatile metabolites in the exhaled breath. We hypothesized that breath prints could facilitate accurate diagnosis of ARDS in intubated and ventilated intensive care unit (ICU) patients. Methods Prospective single-center cohort study with training and temporal external validation cohort. Breath of newly intubated and mechanically ventilated ICU-patients was analyzed using an electronic nose within 24 hours after admission. ARDS was diagnosed and classified by the Berlin clinical consensus definition. The eNose was trained to recognize ARDS in a training cohort and the diagnostic performance was evaluated in a temporal external validation cohort. Results In the training cohort (40 patients with ARDS versus 66 controls) the diagnostic model for ARDS showed a moderate discrimination, with an area under the receiver–operator characteristic curve (AUC–ROC) of 0.72 (95%–confidence interval (CI): 0.63-0.82). In the external validation cohort (18 patients with ARDS versus 26 controls) the AUC–ROC was 0.71 [95%–CI: 0.54 – 0.87]. Restricting discrimination to patients with moderate or severe ARDS versus controls resulted in an AUC–ROC of 0.80 [95%–CI: 0.70 – 0.90]. The exhaled breath profile from patients with cardiopulmonary edema and pneumonia was different from that of patients with moderate/severe ARDS. Conclusions An electronic nose can rapidly and non–invasively discriminate between patients with and without ARDS with modest accuracy. Diagnostic accuracy increased when only moderate and severe ARDS patients were considered. This implicates that breath analysis may allow for rapid, bedside detection of ARDS, especially if our findings are reproduced using continuous exhaled breath profiling. Trial registration NTR2750, registered 11 February 2011. PMID:24767549

2014-01-01

78

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

ERIC Educational Resources Information Center

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

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

2014-01-01

79

Sonography as an aid to neurophysiological studies in diagnosing tarsal tunnel syndrome.  

PubMed

Diagnosing tarsal tunnel syndrome can be difficult because of varying clinical diagnostic criteria and equivocal physical signs. We present a case of tarsal tunnel syndrome where nerve conduction identified distal tibial neuropathy and high-resolution sonography was able to show nerve swelling within the tarsal tunnel. PMID:19454856

Vijayan, Joy; Therimadasamy, A K; Teoh, H L; Chan, Y C; Wilder-Smith, E P

2009-06-01

80

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

MedlinePLUS

... En Español How do health care providers diagnose PCOS? Skip sharing on social media links Share this: Page Content Your health care provider may suspect PCOS if you have eight or fewer periods per ...

81

LEOPARD syndrome: you could be the first one to diagnose!  

PubMed

Leopard syndrome is a rare genetic disease complex associated with multiple anomalies. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to mnemonic for the major features of this disorder:multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensory neural Deafness. A Four year old male patient reported with the chief complaint of decayed anterior tooth without any relevant past medical history. Based on the clinical features; the child was subjected to genetic and general physical appraisal which helped in identifying Leopard syndrome. A multidisciplinary approach by the pedodontist and medical consultants aided in the identification and management of this rare syndrome. LEOPARD syndrome has been rarely reported in the diseases associated with oro-dental or craniofacial anomalies. In this case report we describe these anomalies and discuss the relationship between them and the proposed etiology of the disease. PMID:25572376

Urs, Pallavi; Konde, Sapna; Chouta, Nidhi; Raj, Sunil

2015-01-01

82

Swyer-James syndrome diagnosed in a trauma patient  

Microsoft Academic Search

Background: Swyer-James syndrome is a relatively rare pulmonary manifestation of prior childhood lung infection that results in hypoplastic lung with small-caliber bronchi and pulmonary vasculature. It appears as increased opacity on chest X-ray study and can be confused for other thoracic disease processes. Case Report\\/Objectives: We present the confusing case of Swyer-James syndrome presenting in a trauma patient after a

Matthew R. Smeds; John B. Fortune

2008-01-01

83

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.

2010-01-01

84

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

2007-01-01

85

POEMS Syndrome Diagnosed 10?Years after Disabling Peripheral Neuropathy.  

PubMed

Peripheral neuropathy is characterized as a generalized, relatively homogeneous process affecting many peripheral nerves and predominantly affecting distal nerves. The epidemiology of peripheral neuropathy is limited since the disease presents with varying etiology, pathology, and severity. Toxic, inflammatory, hereditary, and infectious factors can cause damage to the peripheral nerves resulting in peripheral neuropathy. Peripheral neuropathy is most commonly caused by diabetes, alcohol, HIV infection, and malignancy. We report a case of a 42-year-old female with 10-year history of progressively worsening peripheral neuropathy, hypothyroidism, and skin changes who presents with dyspnea secondary to recurrent pleural and pericardial effusions. Prior to her arrival, her peripheral neuropathy was believed to be secondary to chronic demyelinating inflammatory polyneuropathy (CDIP) given elevated protein in the cerebral spinal fluid (CSF) which was treated with intravenous immunoglobulin (IVIG) and corticosteroids. Unfortunately, her peripheral neuropathy did not have any improvement. Incidentally, patient was found to have splenomegaly and papilledema on physical exam. Serum protein electrophoresis showed a monoclonal pattern of IgA lambda. Patient met the diagnostic criteria for POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome. An underlying diagnosis of POEMS syndrome should be considered in patients with chronic debilitating neuropathy and an elevated protein in the CSF. PMID:22013451

Nguyen, Viet H

2011-01-01

86

POEMS Syndrome Diagnosed 10?Years after Disabling Peripheral Neuropathy  

PubMed Central

Peripheral neuropathy is characterized as a generalized, relatively homogeneous process affecting many peripheral nerves and predominantly affecting distal nerves. The epidemiology of peripheral neuropathy is limited since the disease presents with varying etiology, pathology, and severity. Toxic, inflammatory, hereditary, and infectious factors can cause damage to the peripheral nerves resulting in peripheral neuropathy. Peripheral neuropathy is most commonly caused by diabetes, alcohol, HIV infection, and malignancy. We report a case of a 42-year-old female with 10-year history of progressively worsening peripheral neuropathy, hypothyroidism, and skin changes who presents with dyspnea secondary to recurrent pleural and pericardial effusions. Prior to her arrival, her peripheral neuropathy was believed to be secondary to chronic demyelinating inflammatory polyneuropathy (CDIP) given elevated protein in the cerebral spinal fluid (CSF) which was treated with intravenous immunoglobulin (IVIG) and corticosteroids. Unfortunately, her peripheral neuropathy did not have any improvement. Incidentally, patient was found to have splenomegaly and papilledema on physical exam. Serum protein electrophoresis showed a monoclonal pattern of IgA lambda. Patient met the diagnostic criteria for POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome. An underlying diagnosis of POEMS syndrome should be considered in patients with chronic debilitating neuropathy and an elevated protein in the CSF. PMID:22013451

Nguyen, Viet H.

2011-01-01

87

Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.  

PubMed

Prenatal ultrasound can often reliably distinguish fetal anatomic anomalies, particularly in the hands of an experienced ultrasonographer. Given the large number of existing syndromes and the significant overlap in prenatal findings, antenatal differentiation for syndrome diagnosis is difficult. We constructed a hierarchic tree of 1140 sonographic markers and submarkers, organized per organ system. Subsequently, a database of prenatally diagnosable syndromes was built. An internet-based search engine was then designed to search the syndrome database based on a single or multiple sonographic markers. Future developments will include a database with magnetic resonance imaging findings as well as further refinements in the search engine to allow prioritization based on incidence of syndromes and markers. PMID:25492042

Porat, Shay; de Rham, Maud; Giamboni, Davide; Van Mieghem, Tim; Baud, David

2014-12-10

88

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 related…

Szentmiklosi, Jillian M.

2009-01-01

89

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

ERIC Educational Resources Information Center

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

Prasher, V. P.

1995-01-01

90

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

1984-01-01

91

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

2011-01-01

92

Carpal tunnel syndrome diagnosed by general practitioners: an observational study.  

PubMed

The aim of this study was to investigate the results of both clinical testing and standardised nerve conduction studies performed on patients with Carpal tunnel syndrome (CTS) complaints, who had been referred to the neurologist by their general practitioners. Analysis of the data of neurological examination and electrodiagnostic tests (EDX) were performed on patients that had been referred by general practitioners. A total of 232 patients with clinically defined CTS, who had been referred by general practitioners, were seen by a neurologist and subsequently underwent electrodiagnostic testing. The diagnosis of CTS made by general practitioners was clinically confirmed by the neurologist in 187 of 232 (81%) patients. In these 187 patients, EDX confirmed CTS clinical diagnosis in 180. In 40 (17%), the neurologists disagreed with the clinical diagnosis of CTS because signs and symptoms were not those of clinical CTS. We showed that general practitioners are very well capable of making a clinical diagnosis of CTS. Therefore, direct referral of patients by general practitioners for nerve conduction studies to have their diagnosis of CTS confirmed is a desirable and time-saving procedure. PMID:22198648

Claes, F; Bernsen, H; Meulstee, J; Verhagen, W I M

2012-10-01

93

MicroRNAs: a connection between cholesterol metabolism and neurodegeneration.  

PubMed

Dysregulation of cholesterol metabolism in the brain has been associated with many neurodegenerative disorders such as Alzheimer's disease, Niemann-Pick type C disease, Smith-Lemli-Opitz syndrome, Hungtington's disease and Parkinson's disease. Specifically, genes involved in cholesterol biosynthesis (24-dehydrocholesterol reductase, DHCR24) and cholesterol efflux (ATP-binding cassete transporter, ABCA1, and apolipoprotein E, APOE) have been associated with developing Alzheimer's disease. Indeed, APOE was the first gene variation found to increase the risk of Alzheimer's disease and remains the risk gene with the greatest known impact. Mutations in another cholesterol biosynthetic gene, 7-dehydrocholesterol reductase (DHCR7), cause Smith-Lemli-Opitz syndrome and impairment in cellular cholesterol trafficking caused by mutations in the NPC1 protein results in Niemann-Pick type C disease. Taken together, these findings provide strong evidence that cholesterol metabolism needs to be controlled at very tight levels in the brain. Recent studies have implicated microRNAs (miRNAs) as novel regulators of cholesterol metabolism in several tissues. These small non-coding RNAs regulate gene expression at the post-transcriptional level by either suppressing translation or inducing mRNA degradation. This review article focuses on how cholesterol homeostasis is regulated by miRNAs and their potential implication in several neurodegenerative disorders, such as Alzheimer's disease. Finally, we also discuss how antagonizing miRNA expression could be a potential therapy for treating cholesterol related diseases. PMID:24907491

Goedeke, Leigh; Fernández-Hernando, Carlos

2014-12-01

94

Does metabolic syndrome or its components associate with prostate cancer when diagnosed on biopsy?  

PubMed Central

Purpose: To investigate the association between metabolic syndrome and prostate cancer risk in Turkish men. Methods: We examined data from 220 patients with prostate cancer and 234 men in a control group with benign biopsy results, who had a serum prostate-specific antigen (PSA) level ? 4 ng/ml, or an abnormal digital rectal examination finding and who underwent transrectal ultrasound-guided prostate biopsy at two main training and research hospitals between February 2009 and April 2013. Metabolic syndrome was diagnosed according to The Society of Endocrinology and Metabolism of Turkey metabolic-syndrome criteria. Age, total PSA, waist circumference, body mass index, lipid profiles, fasting blood sugar level, blood pressure level and metabolic syndrome were considered for analysis. Results: A total of 454 patients were enrolled: 85 cases in group 1 (38.6% of 220 prostate cancer cases) and 104 control subjects in group 2 (40.4% of 234 controls) were diagnosed with metabolic syndrome. Higher ages and lower high-density lipoprotein-cholesterol were two parameters that were significant only in the prostate cancer group with metabolic syndrome. There was no significant predictor factor for prostate cancer alone; however, higher triglycerides (odds ratio [OR], 1.286; 95% confidence interval [CI] 1.09–1.82 and 1.142; 95% CI 1.06–1.62) and fasting glucose levels (OR, 1.222; 95% CI 1.08–1.61 and 1.024; 95% CI 1.07–1.82) were significant predictors in both the prostate cancer group and control group. Conclusions: We found little evidence to support the hypothesis that increased incidence of metabolic syndrome (or its components) contributes to increased incidence of prostate cancer. A larger, prospective, multicentre investigation is mandatory to confirm if there is any relationship between metabolic syndrome and prostate cancer. PMID:25755679

Sarici, Hasmet; Ekici, Musa; Ozgur, Berat Cem; Doluoglu, Omer Gokhan; Eroglu, Muzaffer; Telli, Tugba Akin

2015-01-01

95

Validity of hospital discharge diagnoses for public health surveillance of the Guillain-Barrè syndrome  

Microsoft Academic Search

.   We assessed the validity of hospital discharge diagnoses (HDDs) as a tracer of the Guillain-Barrè syndrome (GBS) in Lombardy\\u000a Region, Northern Italy. The total number of HDDs with the ICD-9 code 357.0 as primary or any secondary diagnosis for the year\\u000a 1996 was obtained from the Lombardy Region archives and matched to three sources of cases (an active GBS

G. Bogliun; E. Beghi

2002-01-01

96

A Metabolomics Approach to Stratify Patients Diagnosed with Diabetes Mellitus into Excess or Deficiency Syndromes  

PubMed Central

The prevalence of type 2 diabetes continuously increases globally. The traditional Chinese medicine (TCM) can stratify the diabetic patients based on their different TCM syndromes and, thus, allow a personalized treatment. Metabolomics is able to provide metabolite biomarkers for disease subtypes. In this study, we applied a metabolomics approach using an ultraperformance liquid chromatography (UPLC) coupled with quadruple-time-of-flight (QTOF) mass spectrometry system to characterize the metabolic alterations of different TCM syndromes including excess and deficiency in patients diagnosed with diabetes mellitus (DM). We obtained a snapshot of the distinct metabolic changes of DM patients with different TCM syndromes. DM patients with excess syndrome have higher serum 2-indolecarboxylic acid, hypotaurine, pipecolic acid, and progesterone in comparison to those patients with deficiency syndrome. The excess patients have more oxidative stress as demonstrated by unique metabolite signatures than the deficiency subjects. The results provide an improved understanding of the systemic alteration of metabolites in different syndromes of DM. The identified serum metabolites may be of clinical relevance for subtyping of diabetic patients, leading to a personalized DM treatment. PMID:25667595

Wu, Tao; Yang, Ming; Liu, Tao

2015-01-01

97

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. PMID:23579693

Sawicka, Nadia; Gryczy?ska, Maria; Sowi?ski, Jerzy; Tamborska-Zedlewska, Monika; Rucha?a, Marek

2013-01-01

98

Kocher-Debré-Sémélaigne syndrome diagnosed by autopsy associated with disseminated intravascular coagulation.  

PubMed

Kocher-Debré-Sémélaigne syndrome is a rare disease with little literature, which develops with myopathy in infancy associated with neuromuscular alterations, polymyositis with symmetrical proximal muscle weakness, pseudohypertrophy, muscular rigidity and spasms, exercise intolerance, myxoedema, short stature, and cretinism. Male patient aged 18 years old, 1.52 m in height, admitted in the General Hospital of Triângulo Mineiro Federal University on November 11, 2003, complaining of intense diffuse abdominal pain like severe cramps, without triggering factors, associated with asthenia and hyporexia. This seems to be one of the few reports of KDS syndrome diagnoses by autopsy, where alterations in the thyroid gland connected with hypotrophy and probable congenital hypothyroidism were described and resulted in complications such as disseminated intravascular coagulation and hemophagocytic syndrome with fast progression to death of an 18-year-old patient. PMID:21316996

Guimarães, Natália Dias B; Espindula, Ana Paula; Rocha, Laura Penna; Olegário, Janaínna Grazielle Pacheco; Abate, Débora Tavares Resende Silva; e Silva, Renata Calciolari Rossi; Cavellani, Camila Lourencini; dos Reis, Marlene Antônia; Teixeira, Vicente de Paula Antunes; da Cunha Castro, Eumenia Costa; Corrêa, Rosana Rosa Miranda

2012-01-01

99

Ambiguous genitalia: what prenatal genetic testing is practical?  

PubMed

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

2012-06-01

100

Androgen Insensitivity Syndrome Diagnosed in an Elderly Patient During a Strangulated Inguinal Hernia Repair???  

PubMed Central

Androgen Insensitivity Syndrome Diagnosed in an Elderly Patient during a Strangulated Inguinal Hernia Repair INTRODUCTION A strangulated inguinal hernia is a common indication for emergency surgery. In comparison, complete testicular feminization is a rare genetic disease that can present with an inguinal hernia because of ectopically positioned testicles. PRESENTATION OF CASE A 70-year-old female was admitted to the emergency service complaining of a painful swelling in the right inguinal region for 1 day. The physical examination indicated a strangulated inguinal hernia and surgery was performed. On exploring the inguinal region, a strangulated indirect inguinal hernia and hard 2 × 3-cm mass were detected. The histopathological examination of the excised mass showed testicular tissue, and complete testicular feminization (CTF) was diagnosed after further examinations. DISCUSSION Androgen insensitivity syndrome (AIS), the most frequent cause of male pseudohermaphroditism. The diagnosis of patients with AIS is usually made at the beginning of the second decade when a healthy person with a female phenotype complains of no menarche. Making a first diagnosis after the 5th decade is extremely rare. CONCLUSION While AIS can be diagnosed in early adulthood, cases might not bediagnosed until the patient is of advanced age. PMID:24240122

Arslan, Yusuf; Altintoprak, Fatih; Ozkan, Orhan Veli; Yalk?n, Omer; Gunduz, Yasemin; Kahyaoglu, Zeynep

2013-01-01

101

Liver Disease Among Children in Hawai‘i Diagnosed with Metabolic Syndrome  

PubMed Central

The purpose of this study was to evaluate the prevalence of and factors related to liver disease among children in Hawai‘i with metabolic syndrome. The medical charts of children diagnosed with metabolic syndrome by an outpatient endocrinologist between January 2000 and December 2010 were reviewed. Liver disease prevalence was estimated based on serum alanine aminotransferase (ALT) levels, which were then assessed for associations with demographic (age, gender, ethnicity), anthropometric (body mass index), biochemical (fasting blood glucose, hemoglobin A1c, triglycerides, and total, LDL- and HDL-cholesterol), and clinical (blood pressure) characteristics of subjects. Serum ALT was available for 167 of the 195 subjects. The proportion of subjects with liver disease (105/167 [63%]) was greater than many traditional features of metabolic syndrome including hypertriglyceridemia (73/177 [41%]), hypertension (37/194 [19%]) and hyperglycemia (37/170 [22%]). Serum ALT values were positively associated with age (P=.030), and liver disease was more common among boys than girls (62/91 [68%] vs 43/76 [57%]), although this difference was not statistically significant (P=.123). There was a significant difference in liver disease across ethnicities (P=.029), and appeared to be more common in children with Pacific Islander surnames (14/16 [88%]), and less common in children with Hispanic surnames (7/20 [35%]). Diastolic blood pressure was the only obesity-related disease parameter associated with serum ALT after adjusting for age and gender (P=.018). In conclusion, liver disease was common among children diagnosed with metabolic syndrome in Hawai‘i. Age, gender, and ethnicity may be important determinants of liver disease risk, and should be investigated further. PMID:23795321

St-Jules, David E; Davis, James; Waxman, Sorrell H

2013-01-01

102

Clinical utility of portable versus traditional electrodiagnostic testing for diagnosing, evaluating, and treating carpal tunnel syndrome.  

PubMed

Data indicate that a portable electrodiagnostic device (NC-Stat; Neurometrix, Inc, Cambridge, Mass) provides objective preoperative evidence of the severity of median nerve dysfunction as well as useful objective postoperative data. With traditional electrodiagnostic studies for comparison, we studied the utility of this device as a diagnostic tool, evaluated patient satisfaction with the instrument, and found statistically significant improvement in recorded distal motor latency at 6-month follow-up. Such data can be of great value in treating a patient who does not exhibit subjective symptom improvement. This portable electrodiagnostic device provides a reliable, convenient, and relatively inexpensive way to obtain objective data that can be used in diagnosing, evaluating, and treating carpal tunnel syndrome. PMID:16187725

Elkowitz, Stuart J; Dubin, Norman H; Richards, Brett E; Wilgis, E F Shaw

2005-08-01

103

Psychophysiological response to a laboratory challenge in women with and without diagnosed irritable bowel syndrome.  

PubMed

The purpose of this study was to describe and compare physiological variables at baseline and in response to laboratory stress among women diagnosed with irritable bowel syndrome (IBS, n = 26), women with undiagnosed chronic gastrointestinal symptoms consistent with IBS (IBS-NP, n = 24), and asymptomatic women (n = 22). Urine catecholamine levels were measured in the first voided specimen on the morning of testing. Cardiovascular variables were measured at baseline and repeatedly during the Stroop Color-Word Conflict Test (Stroop). Women in the IBS group had higher baseline systolic blood pressure (SBP) than the control group and higher basal urine norepinephrine (NE) levels than the IBS-NP group. Control for activity or body mass reduced the group difference in SBP to nonsignificance but did not affect the observed difference in urine NE. There were no significant differences among the groups in other baseline values or in response to the Stroop. These results suggest that, despite higher basal urine catecholamine levels, cardiovascular reactivity to a cognitive challenge in a laboratory setting is not elevated in women with diagnosed IBS. PMID:9334797

Levine, B S; Jarrett, M; Cain, K C; Heitkemper, M M

1997-10-01

104

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

PubMed

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

Saxe, Johnathan L; Perdue, Christopher L

2015-01-01

105

Asperger's Syndrome: A Comparison of Clinical Diagnoses and Those Made According to the ICD-10 and DSM-IV  

ERIC Educational Resources Information Center

The diagnostic criteria for Asperger Syndrome (AS) according to ICD-10 and DSM-IV have been criticized as being too narrow in view of the rules of onset and precedence, whereby autism takes precedence over AS in a diagnostic hierarchy. In order to investigate this further, cases from the DSM-IV multicenter study who had been diagnosed clinically…

Woodbury-Smith, Marc; Klin, Ami; Volkmar, Fred

2005-01-01

106

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

2005-01-01

107

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.  

PubMed Central

Three unrelated, mentally retarded boys with typical blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) were found to have chromosomal aberrations. One of them had a del(3)(p25), another patient had a de novo translocation t(2; 3), which after high resolution banding combined with chromosome painting was interpreted to be unbalanced with a loss of band q23. The third patient had a del(7)(q34). The phenotypes of the two patients with chromosome 3 related syndromes were similar, but the third also had genital malformations resembling the Smith-Lemli-Opitz syndrome. This patient had a palatal ridge, and a single mesial maxillary tooth suggesting the holoprosencephaly sequence, but CT scans of the brain were normal. Images PMID:7897621

Warburg, M; Bugge, M; Brøndum-Nielsen, K

1995-01-01

108

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

PubMed Central

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.

2013-01-01

109

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

PubMed Central

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

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

2015-01-01

110

Salivary anti-Ro60 and anti-Ro52 antibody profiles to diagnose Sjogren's Syndrome.  

PubMed

Simple and non-invasive saliva-based diagnostics may be useful for the identification, understanding, and monitoring of autoimmune and infectious diseases. Previously, Luciferase Immunoprecipitation Systems (LIPS) were used for sensitive detection of patient serum autoantibodies in Sjögren's Syndrome (SjS), a chronic autoimmune disease affecting the salivary and lacrimal glands. Here we explored the ability of LIPS to diagnose SjS based on IgG autoantibodies in patient saliva. From LIPS testing, anti-Ro60 autoantibodies were detected in the saliva of 70% (19/27) of SjS patients with 96% specificity. Positive anti-Ro60 autoantibodies were also found in 70% of the matched serum samples (96% specificity). LIPS detected Ro52 autoantibodies in the saliva and serum of 67% of SjS patients with 100% specificity. Overall, the autoantibody titers in saliva were approximately 4000-fold lower by volume than serum, but still distinguished seropositive patients from controls. These results suggest that LIPS salivary-based testing for SjS autoantibodies is a practical alternative to serum and compatible with point-of-care testing. PMID:21212317

Ching, K H; Burbelo, P D; Gonzalez-Begne, M; Roberts, M E P; Coca, A; Sanz, I; Iadarola, M J

2011-04-01

111

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

PubMed

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

2011-11-01

112

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

E-print Network

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

113

The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.  

PubMed

Metabotropic glutamate receptors (GRMs), which constitute a family of genes, are neurotransmitter receptors that respond to glutamate stimulations by activating GTP-binding proteins and modulating second-messenger cascades. Pharmacological and expression studies of the rodent Grm8 gene suggest it could be a presynaptic receptor modulating glutamate release at the axon terminals. To study human GRM8, we have determined its nucleotide sequence and genomic organization. While the coding region of the gene spans only 2.3 kb, the gene encompasses approximately 1000 kb of DNA at the boundary of the q31.3-q32.1 bands of chromosome 7. This observation is relevant to the study of Smith-Lemli-Opitz syndrome and an autosomal dominant form of retinitis pigmentosa (RP10), since they map to the same region. PMID:9299241

Scherer, S W; Soder, S; Duvoisin, R M; Huizenga, J J; Tsui, L C

1997-09-01

114

The effects of 7-dehydrocholesterol on the structural properties of membranes  

NASA Astrophysics Data System (ADS)

Smith-Lemli-Opitz syndrome, a congenital and developmental malformation disease, is typified by abnormal accumulation of 7-dehydrocholesterol (7DHC), the immediate precursor of cholesterol (CHOL), and depletion thereof. Knowledge of the effect of 7DHC on the biological membrane is, however, still fragmentary. In this study, large-scale atomistic molecular dynamics simulations, employing two distinct force fields, have been conducted to elucidate differences in the structural properties of a hydrated dimyristoylphosphatidylcholine bilayer due to CHOL and 7DHC. The present series of results indicate that CHOL and 7DHC possess virtually the same ability to condense and order membranes. Furthermore, the condensing and ordering effects are shown to be strengthened at increasing sterol concentrations.

Liu, Yingzhe; Chipot, Christophe; Shao, Xueguang; Cai, Wensheng

2011-10-01

115

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

SciTech Connect

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

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

1997-01-31

116

Lynch Syndrome Screening Should Be Considered for All Patients With Newly Diagnosed Endometrial Cancer  

PubMed Central

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

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

2015-01-01

117

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

PubMed

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

2013-02-01

118

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

2009-01-01

119

Prevalence, severity and correlates of fatigue in newly diagnosed patients with myelodysplastic syndromes.  

PubMed

The primary objective of this study was to investigate factors associated with fatigue severity in newly diagnosed patients with higher-risk myelodysplastic syndromes (MDS). The secondary objectives were to assess symptom prevalence and to examine the relationships between fatigue, quality of life (QoL) and overall symptom burden in these patients. The analyses were conducted in 280 higher-risk MDS patients. Pre-treatment patient-reported fatigue was evaluated with the Functional Assessment of Chronic Illness Therapy (FACIT)-Fatigue scale and QoL was assessed with the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 (EORTC QLQ-C30). Female gender (P = 0·018), poor performance status (i.e., ECOG of 2-4) (P < 0·001) and lower levels of haemoglobin (Hb) (P = 0·026) were independently associated with higher fatigue severity. The three most prevalent symptoms were as follows: fatigue (92%), dyspnoea (63%) and pain (55%). Patients with higher levels of fatigue also had greater overall symptom burdens. The mean global QoL scores of patients with the highest versus those with the lowest levels of fatigue were 29·2 [standard deviation (SD), 18·3] and 69·0 (SD, 18·8), respectively and this difference was four times the magnitude of a clinically meaningful difference. Patient-reported fatigue severity revealed the effects of disease burden on overall QoL more accurately than did degree of anaemia. Special attention should be given to the female patients in the management of fatigue. PMID:25272332

Efficace, Fabio; Gaidano, Gianluca; Breccia, Massimo; Criscuolo, Marianna; Cottone, Francesco; Caocci, Giovanni; Bowen, David; Lübbert, Michael; Angelucci, Emanuele; Stauder, Reinhard; Selleslag, Dominik; Platzbecker, Uwe; Sanpaolo, Grazia; Jonasova, Anna; Buccisano, Francesco; Specchia, Giorgina; Palumbo, Giuseppe A; Niscola, Pasquale; Wan, Chonghua; Zhang, Huiyong; Fenu, Susanna; Klimek, Virginia; Beyne-Rauzy, Odile; Nguyen, Khanh; Mandelli, Franco

2015-02-01

120

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

PubMed

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

2009-01-01

121

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

SciTech Connect

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

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

1996-01-02

122

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

PubMed Central

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

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

2014-01-01

123

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

1998-01-01

124

Tarsal tunnel syndrome associated with a pulsating artery: effectiveness of high-resolution ultrasound in diagnosing tarsal tunnel syndrome.  

PubMed

We describe a patient with tarsal tunnel syndrome in whom ultrasound imaging revealed compression of the posterior tibial nerve by a pulsating artery. High-resolution ultrasound showed a round pulsating hypoechoic lesion in contact with the posterior tibial nerve. Ultrasound-guided injection of 0.5% lidocaine temporarily resolved the paresthesia. These findings suggest an arterial etiology of tarsal tunnel syndrome. PMID:20479452

Kim, Eunkuk; Childers, Martin K

2010-01-01

125

Utility of gallium imaging of the kidneys in diagnosing primary amyloid nephrotic syndrome  

SciTech Connect

We undertook a study to determine the value of gallium imaging of the kidneys in patients who had primary amyloidosis that was manifest clinically by nephrotic syndrome. We studied 28 patients with gallium-67 (67Ga) citrate scans performed 48 hr after injection. Intense (3+ to 4+) uptake was noted in both kidneys in 25 of 28 patients. Renal amyloidosis should be considered in the differential diagnosis when diffuse bilateral renal uptake of (67Ga)citrate is seen in the setting of nephrotic syndrome. Gallium uptake did not differentiate amyloid nephrotic syndrome from other causes of nephrotic syndrome. Renal gallium uptake showed a weak correlation with 24-hr urine protein excretion (p = 0.06).

Gertz, M.A.; Brown, M.L.; Hauser, M.F.; Kyle, R.A. (Mayo Clinic, Rochester, MN (USA))

1990-03-01

126

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

2010-01-01

127

Idarubicin, Cytarabine, and Tipifarnib in Treating Patients With Newly Diagnosed Myelodysplastic Syndromes or Acute Myeloid Leukemia  

ClinicalTrials.gov

Adult Acute Basophilic Leukemia; Adult Acute Eosinophilic Leukemia; 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 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); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

2014-05-09

128

Crowned dens syndrome diagnosed on ¹?F-FDG PET/CT.  

PubMed

An 87-year-old woman with corticosteroid-resistant polymyalgia rheumatica underwent ¹?F-FDG PET/CT for suspected giant cell arteritis or neoplastic disease. FDG uptake in the immediate vicinity of the odontoid process, with a crownlike calcification, was identified on the CT scan on the posterior side of the dens, thus confirming the diagnosis of crowned dens syndrome. Because this rare syndrome is frequently misdiagnosed, nuclear physicians should be aware of the signs and symptoms of this condition, which may call for the use of PET/CT imagery. PMID:25243939

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

2014-12-01

129

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

ERIC Educational Resources Information Center

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

Rosqvist, Hanna Bertilsdotter

2012-01-01

130

The role of tissue pressure measurement in diagnosing chronic anterior compartment syndrome  

Microsoft Academic Search

Pressure studies were performed in 55 patients (24 with chronic anterior leg pain and 31 asymptomatic recreational athletes). Pressure measurements were recorded at rest, during, and after exercise, using the slit catheter system. Seventeen of the twenty-four pa tients with symptomatic anterior leg pain were diag nosed on the basis of tissue pressure studies as having chronic exertional compartment syndrome.

C. H. Rorabeck; R. B. Bourne; P. J. Fowler; J. B. Finlay; Linda Nott

1988-01-01

131

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

132

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

ERIC Educational Resources Information Center

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

Centers for Disease Control and Prevention, 2009

2009-01-01

133

Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome  

PubMed Central

Purpose To investigate the efficacy of topiramate monotherapy in West syndrome prospectively. Methods The study population included 28 patients (15 male and 13 female children aged 2 to 18 months) diagnosed with West syndrome. After a 2-week baseline period for documentation of the frequency of spasms, topiramate was initiated at 2 mg/kg/day. The dose was increased by 2 mg/kg every week to a maximum of 12 mg/kg/day. Clinical assessment was based on the parents' report and a neurological examination every 2 weeks for the first 2 months of treatment. The baseline electroencephalograms (EEGs) were compared with the post-treatment EEGs at 2 weeks and 1 month. Results West syndrome was considered to be cryptogenic in 7 of the 28 patients and symptomatic in 21 patients. After treatment, 11 patients (39%) became spasm-free, 6 (21%) had more than 50% spasmsreduction, 3 (11%) showed less than 50% reduction, and 8 (29%) did not respond. The effective daily dose for achieving more than 50% reduction in spasm frequency, including becoming spasm-free, was found to be 5.8±1.1 mg/kg/day. Nine patients (32%) showed complete disappearance of spasms and hypsarrhythmia, and 11 (39%) showed improved EEG results. Despite adverse events (4 instances of irritability, 3 of drowsiness, and 1 of decreased feeding), no patients discontinued the medication. Conclusion Topiramate monotherapy seems to be effective and well tolerated as a first line therapy for West syndrome and is not associated with serious adverse effects. PMID:22232631

Lee, Gyu Min; Lee, Kyung Suk; Lee, Eun Hye

2011-01-01

134

Chronic prostatitis/chronic pelvic pain syndrome and pelvic floor spasm: can we diagnose and treat?  

PubMed

National Institutes of Health category III prostatitis, also known as chronic prostatitis/chronic pelvic pain syndrome, is a common condition with significant impact on quality of life. This clinically defined syndrome has a multifactorial etiology and seems to respond best to multimodal therapy. At least half of these patients have pelvic floor spasm. There are several approaches to therapy including biofeedback, acupuncture, and myofascial release physical therapy. However, the only multicenter study of pelvic floor physical therapy for pelvic floor spasm in men failed to show an advantage over conventional Western massage. We have proposed a clinical phenotyping system called UPOINT to classify patients with urologic chronic pelvic pain and subsequently direct appropriate therapy. Here, we review the current approach to category III prostatitis and describe how clinical phenotyping with UPOINT may improve therapy outcomes. PMID:20490725

Westesson, Karin E; Shoskes, Daniel A

2010-07-01

135

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

NASA Astrophysics Data System (ADS)

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

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

2005-01-01

136

Ventilation-perfusion SPECT\\/CT in Diagnosing Swyer-James (MacLeod) Syndrome  

Microsoft Academic Search

We present the characteristics of a ventilation-perfusion scan correlating to both planar and single photon emission computed tomography and computed tomography (SPECT\\/CT) images of the lungs in a patient with Swyer-James (MacLeod) syndrome. A Tc-99m MAA lung perfusion scan was recorded with multiple projections and SPECT\\/CT. In the ventilation scan, initially dynamic acquisition of aerosol Tc-99m DTPA was obtained with

Tzyy-Ling Chuang; Yuh-Feng Wang; Chun-Liang Lai

2010-01-01

137

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

2003-01-01

138

How Is Heart Disease Diagnosed?  

MedlinePLUS

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

139

Multimodal Chiropractic Care of Pain and Disability for a Patient Diagnosed With Benign Joint Hypermobility Syndrome: A Case Report  

PubMed Central

Objective The purpose of this case report is to describe multimodal chiropractic care of a female patient diagnosed with benign joint hypermobility syndrome (BJHS) and a history of chronic spine pain. Clinical features A 23-year-old white female presented for chiropractic care with chronic low back pain, neck pain, and headaches. The patient was diagnosed with BJHS, including joint hypermobility of her thumbs, elbows, right knee, and lumbopelvic region. A 6-year history of low back pain and varicose veins in her posterior thighs and knees were additional significant diagnostic findings of BJHS. Interventions and outcomes The treatment consisted of spinal and extremity manipulation, Graston technique, and postisometric relaxation combined with sensory motor stimulation and scapular stabilization exercises. The patient was seen 15 times over an 18-week period. After 18 weeks of care, the Revised Oswestry Low Back Questionnaire and Headache Disability Index demonstrated clinically important improvements with her low back pain and headache; but little change was noted in her neck pain as measured by the Neck Disability Index. Conclusion This patient with BJHS who had decreased disability and spine pain improved after a course of multimodal chiropractic care. PMID:24711783

Strunk, Richard G.; Pfefer, Mark T.; Dube, Derrick

2014-01-01

140

Predictive Value of Sympathetic Skin Response in Diagnosing Complex Regional Pain Syndrome: A Case-Control Study  

PubMed Central

Objective To investigate the predictive value of the sympathetic skin response (SSR) in diagnosing complex regional pain syndrome (CRPS) by comparing three diagnostic modalities-SSR, three-phasic bone scans (TPBS), and thermography. Methods Thirteen patients with severe limb pain were recruited. Among them, 6 were diagnosed with CRPS according to the proposed revised CRPS clinical diagnostic criteria described by the International Association for the Study of Pain. SSR was measured in either the hands or feet bilaterally and was considered abnormal when the latency was prolonged. A positive TPBS finding was defined as diffuse increased tracer uptake on the delayed image. Thermographic findings were considered positive if a temperature asymmetry greater than 1.00? was detected between the extremities. Results Five of 6 CRPS patients showed prolonged latency on SSR (83% sensitivity). TPBS was positive in the 5 CRPS patients who underwent TPBS (100% sensitivity). Thermography was positive in 4 of 5 CRPS patients who underwent the procedure (80% sensitivity). The remaining 7 non-CRPS patients differed on examination. SSR latencies within normal limit were noted in 4 of 7 non-CRPS patients (57% specificity). Results were negative in 4 of 5 non-CRPS patients who underwent TPBS (80% specificity), and negative in 3 of 5 non-CRPS patients who underwent thermography (60% specificity). Conclusion SSR may be helpful in detecting CRPS.

Kim, Hyun Jung; Yang, Hea Eun; Kim, Dae Hyun

2015-01-01

141

Resolution of metabolic syndrome after following a gluten free diet in an adult woman diagnosed with celiac disease  

PubMed Central

Adult celiac disease (CD) presents with very diverse symptoms that are clearly different from those typically seen in pediatric patients, including ferropenic anemia, dyspepsia, endocrine alterations and elevated transaminase concentration. We present the case of a 51-year-old overweight woman with altered basal blood glucose, hypercholesterolemia, hypertriglyceridemia and persisting elevated transaminase levels, who showed all the symptoms for a diagnosis of metabolic syndrome. Because she presented iron deficiency anemia, she was referred to the gastroenterology department and subsequently diagnosed with celiac disease after duodenal biopsies and detection of a compatible HLA haplotype. Gluten-free diet (GFD) was prescribed and after 6 mo the patient showed resolution of laboratory abnormalities (including recovering anemia and iron reserves, normalization of altered lipid and liver function parameters and decrease of glucose blood levels). No changes in weight or waist circumference were observed and no significant changes in diet were documented apart from the GFD. The present case study is the first reported description of an association between CD and metabolic syndrome, and invites investigation of the metabolic changes induced by gluten in celiac patients. PMID:21860836

García-Manzanares, Álvaro; Lucendo, Alfredo J; González-Castillo, Sonia; Moreno-Fernández, Jesús

2011-01-01

142

Genetic Testing for Lynch Syndrome in Individuals Newly Diagnosed with Colorectal Cancer to Reduce Morbidity and Mortality from Colorectal Cancer in Their Relatives  

PubMed Central

Individuals with Lynch syndrome, sometimes referred to as hereditary non-polyposis colorectal cancer (HNPCC), have an increased risk of developing colorectal cancer (CRC) as well as other cancers. The increased risk is due to inherited mutations in mismatch repair (MMR) genes, which reduce the ability of cells to repair DNA damage. Screening for Lynch syndrome in individuals newly diagnosed with colorectal cancer has been proposed as part of a strategy that combines tests and interventions to reduce the risk of colorectal cancer in the relatives of the colorectal cancer patients with Lynch Syndrome. PMID:21743847

Coates, Ralph; Williams, Marc; Melillo, Stephanie; Gudgeon, Jim

2011-01-01

143

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. PMID:21769216

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

2011-01-01

144

A sensitive new median-ulnar technique for diagnosing mild Carpal Tunnel Syndrome.  

PubMed

Carpal Tunnel Syndrome (CTS) is easily the most common focal peripheral nerve compression. The primary diagnostic tool is electrodiagnosis, although 13-27% of patients with symptoms and signs of CTS have normal electrodiagnostic results. The goal of this study was to create a more sensitive and specific latency difference criteria without any additional testing beyond the minimum. Statistical theory indicates that this would occur by comparing the latency most sensitive to CTS to the least sensitive latency. Data was evaluated from 68 normal hands, 23 hands of patients with symptoms and signs of CTS but normal standard results, and 88 hands of patients with CTS symptoms and signs of CTS with the diagnosis confirmed with standard criteria. The Median Sensory latency was the most sensitive parameter, while the Ulnar Motor Latency varied least in the presence of CTS, making the (Median Sensory-Ulnar Motor) latency difference the criteria of choice. Setting a cutoff value of 0.8 msecs for this difference correctly classified all normals, and all hands with CTS by standard criteria, and classified as abnormal 19/23 (82%) of hands with symptoms and signs of CTS but negative results by standard criteria. Overall the (Median Sensory-Ulnar Motor) Latency difference is a simple, easy, sensitive and specific test for CTS. PMID:15981684

Bodofsky, E B; Wu, K D; Campellone, J V; Greenberg, W M; Tomaio, A C

2005-01-01

145

Surgical lung biopsy to diagnose Behcet's vasculitis with adult respiratory distress syndrome.  

PubMed

A 34-year-old female presented with fever and abdominal pain. Past medical history includes Crohn's and Behcet's disease. Examination revealed multiple skin ulcerations, oral aphthae, and bilateral coarse rales. She developed respiratory distress with diffuse bilateral alveolar infiltrates on chest radiograph requiring intubation. PaO2/FiO2 ratio was 132. The chest computed tomography revealed extensive nodular and patchy ground-glass opacities. Bronchoalveolar lavage demonstrated a predominance of neutrophils. Methylprednisolone 60 mg every 6 h and broad-spectrum antimicrobials were initiated. No infectious etiologies were identified. Surgical lung biopsy demonstrated diffuse alveolar damage (DAD) mixed with lymphocytic and necrotizing vasculitis with multiple small infarcts and thrombi consistent with Behcet's vasculitis. As she improved, steroids were tapered and discharged home on oral cyclophosphamide. Pulmonary involvement in Behcet's is unusual and commonly manifests as pulmonary artery aneurysms, thrombosis, infarction, and hemorrhage. Lung biopsy findings demonstrating DAD are consistent with the clinical diagnosis of adult respiratory distress syndrome. The additional findings of necrotizing vasculitis and infarcts may have led to DAD. PMID:25378849

Vydyula, Ravikanth; Allred, Charles; Huartado, Mariana; Mina, Bushra

2014-10-01

146

Improved Diagnoses and Quantification of Fusarium virguliforme, Causal Agent of Soybean Sudden Death Syndrome.  

PubMed

Fusarium virguliforme (syn. F. solani f. sp. glycines) is the primary causal pathogen responsible for soybean sudden death syndrome (SDS) in North America. Diagnosis of SDS is difficult because symptoms can be inconsistent or similar to several soybean diseases and disorders. Additionally, quantification and identification of F. virguliforme by traditional dilution plating of soil or ground plant tissue is problematic due to the slow growth rate and plastic morphology of F. virguliforme. Although several real-time quantitative polymerase chain reaction (qPCR)-based assays have been developed for F. virguliforme, the performance of those assays does not allow for accurate quantification of F. virguliforme due to the reclassification of the F. solani species complex. In this study, we developed a TaqMan qPCR assay based on the ribosomal DNA (rDNA) intergenic spacer (IGS) region of F. virguliforme. Specificity of the assay was demonstrated by challenging it with genomic DNA of closely related Fusarium spp. and commonly encountered soilborne fungal pathogens. The detection limit of this assay was determined to be 100 fg of pure F. virguliforme genomic DNA or 100 macroconidia in 0.5 g of soil. An exogenous control was multiplexed with the assay to evaluate for PCR inhibition. Target locus copy number variation had minimal impact, with a range of rDNA copy number from 138 to 233 copies per haploid genome, resulting in a minor variation of up to 0.76 cycle threshold values between strains. The qPCR assay is transferable across platforms, as validated on the primary real-time PCR platform used in the Northcentral region of the National Plant Diagnostic Network. A conventional PCR assay for F. virguliforme detection was also developed and validated for use in situations where qPCR is not possible. PMID:25302524

Wang, Jie; Jacobs, Janette L; Byrne, Jan M; Chilvers, Martin I

2015-03-01

147

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

PubMed Central

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

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

2015-01-01

148

Salivary anti-Ro60 and anti-Ro52 Antibody Profiles to Diagnose Sjögren’s Syndrome  

PubMed Central

Simple and non-invasive saliva-based diagnostics may be useful for the identification, understanding, and monitoring of autoimmune and infectious diseases. Previously, Luciferase Immunoprecipitation Systems (LIPS) were used for sensitive detection of patient serum autoantibodies in Sjögren’s Syndrome (SjS), a chronic autoimmune disease affecting the salivary and lacrimal glands. Here we explored the ability of LIPS to diagnose SjS based on IgG autoantibodies in patient saliva. From LIPS testing, anti-Ro60 autoantibodies were detected in the saliva of 70% (19/27) of SjS patients with 96% specificity. Positive anti-Ro60 autoantibodies were also found in 70% of the matched serum samples (96% specificity). LIPS detected Ro52 autoantibodies in the saliva and serum of 67% of SjS patients with 100% specificity. Overall, the autoantibody titers in saliva were approximately 4000-fold lower by volume than serum, but still distinguished seropositive patients from controls. These results suggest that LIPS salivary-based testing for SjS autoantibodies is a practical alternative to serum and compatible with point-of-care testing. PMID:21212317

Ching, K.H.; Burbelo, P.D.; Gonzalez-Begne, M.; Roberts, M.E.P.; Coca, A.; Sanz, I.; Iadarola, M.J.

2011-01-01

149

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

PubMed Central

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

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

2013-01-01

150

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

PubMed Central

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

2014-01-01

151

Metabolic Syndrome  

MedlinePLUS

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

152

Accuracy of automatic syndromic classification of coded emergency department diagnoses in identifying mental health-related presentations for public health surveillance  

PubMed Central

Background Syndromic surveillance in emergency departments (EDs) may be used to deliver early warnings of increases in disease activity, to provide situational awareness during events of public health significance, to supplement other information on trends in acute disease and injury, and to support the development and monitoring of prevention or response strategies. Changes in mental health related ED presentations may be relevant to these goals, provided they can be identified accurately and efficiently. This study aimed to measure the accuracy of using diagnostic codes in electronic ED presentation records to identify mental health-related visits. Methods We selected a random sample of 500 records from a total of 1,815,588 ED electronic presentation records from 59 NSW public hospitals during 2010. ED diagnoses were recorded using any of ICD-9, ICD-10 or SNOMED CT classifications. Three clinicians, blinded to the automatically generated syndromic grouping and each other’s classification, reviewed the triage notes and classified each of the 500 visits as mental health-related or not. A “mental health problem presentation” for the purposes of this study was defined as any ED presentation where either a mental disorder or a mental health problem was the reason for the ED visit. The combined clinicians’ assessment of the records was used as reference standard to measure the sensitivity, specificity, and positive and negative predictive values of the automatic classification of coded emergency department diagnoses. Agreement between the reference standard and the automated coded classification was estimated using the Kappa statistic. Results Agreement between clinician’s classification and automated coded classification was substantial (Kappa =?0.73. 95% CI: 0.58 - 0.87). The automatic syndromic grouping of coded ED diagnoses for mental health-related visits was found to be moderately sensitive (68% 95% CI: 46%-84%) and highly specific at 99% (95% CI: 98%-99.7%) when compared with the reference standard in identifying mental health related ED visits. Positive predictive value was 81% (95% CI: 0.57 – 0.94) and negative predictive value was 98% (95% CI: 0.97-0.99). Conclusions Mental health presentations identified using diagnoses coded with various classifications in electronic ED presentation records offers sufficient accuracy for application in near real-time syndromic surveillance. PMID:25245567

2014-01-01

153

Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case.  

PubMed

Sneddon syndrome is defined by the association of livedo racemosa and recurrent cerebrovascular ischemic lesions. The annual incidence is 4/1,000,000. This syndrome particularly affects young women, some reports suggesting a family predisposition. It is a chronic, progressive, arterio-occlusive disease of unknown etiology that involves small and medium-sized arteries. It is usually associated with antiphospholipid antibodies. We report the case of a female patient with Sneddon syndrome with significant family history, personal history of stroke, epilepsy, migraine, cardiovascular involvement, three miscarriages, cognitive decline, noncompliant to therapy, in the absence of antiphospholipid antibodies. This paper aims to analyze the main characteristic features and management of Sneddon syndrome by conducting a literature review related to a clinical case. PMID:25341280

Orac, Amalia; Artenie, Anca; Toader, Mihaela Paula; Harnagea, Raluca; Dinu-Mitrofan, Diana; Grigorovici, Mirela; Ungureanu, G

2014-01-01

154

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

ClinicalTrials.gov

Adult Acute Megakaryoblastic Leukemia; Adult Acute Monoblastic Leukemia; Adult Acute Monocytic Leukemia; Adult Acute Myeloid Leukemia With Minimal Differentiation; Adult Acute Myeloid Leukemia With t(9;11)(p22;q23); MLLT3-MLL; Adult Acute Myeloid Leukemia Without Maturation; Adult Acute Myelomonocytic Leukemia; Adult Erythroleukemia; Adult Pure Erythroid Leukemia; Alkylating Agent-Related Acute Myeloid Leukemia; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Untreated Adult Acute Myeloid Leukemia

2015-03-10

155

Decitabine and Cytarabine in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia, High Risk Myelodysplastic Syndrome, or Myeloproliferative Neoplasm  

ClinicalTrials.gov

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; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

2014-09-29

156

Diuretic loading test and use of Bartter's Normogram in diagnosing a case of Gitelman's syndrome: Relook into pathophysiology  

PubMed Central

Gitelman's syndrome is a rare autosomal recessive, renal tubular disorder, characterized by chronic hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and normal blood pressure. Patients usually present at a later age with episodic mild muscle weakness. Unexplained hypokalemia arouses suspicion. The diuretic loading test with furosemide and thiazide and the use of Bartter's normogram provides a practical and simple tool in comparison to the complex and costly genetic analysis, to confirm the diagnosis. Here we report a case of Gitelman's syndrome to show the utility of these simple techniques to explain the pathophysiology of the disease, as well as to localize the site of the renal tubular defect, to confirm the diagnosis. PMID:22022094

Goswami, R. P.; Mandal, S.; Karmakar, P. S.; Ghosh, A.

2011-01-01

157

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

PubMed

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

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

2014-10-01

158

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

2009-01-01

159

Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin  

PubMed Central

Insig-1 and Insig-2 are regulatory proteins that restrict the cholesterol biosynthetic pathway by preventing proteolytic activation of SREBPs and by enhancing degradation of HMG-CoA reductase. Here, we created Insig–double-knockout (Insig-DKO) mice that are homozygous for null mutations in Insig-1 and Insig-2. After 18.5 days of development, 96% of Insig-DKO embryos had defects in midline facial development, ranging from cleft palate (52%) to complete cleft face (44%). Middle and inner ear structures were abnormal, but teeth and skeletons were normal. The animals were lethargic and runted; they died within 1 day of birth. The livers and heads of Insig-DKO embryos overproduced sterols, causing a marked buildup of sterol intermediates. Treatment of pregnant mice with the HMG-CoA reductase inhibitor lovastatin reduced sterol synthesis in Insig-DKO embryos and reduced the pre-cholesterol intermediates. This treatment ameliorated the clefting syndrome so that 54% of Insig-DKO mice had normal faces, and only 7% had cleft faces. We conclude that buildup of pre-cholesterol sterol intermediates interferes with midline fusion of facial structures in mice. These findings have implications for the pathogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation syndromes in which mutations in enzymes catalyzing steps in cholesterol biosynthesis produce a buildup of sterol intermediates. PMID:16955138

Engelking, Luke J.; Evers, Bret M.; Richardson, James A.; Goldstein, Joseph L.; Brown, Michael S.; Liang, Guosheng

2006-01-01

160

A Case of Blind Loop Syndrome Caused by Infection with Giardia duodenalis Diagnosed with Double Balloon Enteroscopy  

PubMed Central

A 75-year-old man who had undergone partial gastrectomy was referred to our hospital due to worsening leg edema, loose stools and malnutrition. Double balloon enteroscopy followed by insertion of an indwelling ileus tube was performed to investigate the microbial flora and for washing inside the blind loop. Trophozoites of Giardia were detected in the sampled fluid from the blind loop and DNA analysis disclosed an assemblage of genotype A-II of Giardia duodenalis. Treatment with oral metronidazole was effective. This case emphasizes the importance of a correct diagnosis when treating patients with blind loop syndrome in the digestive tract. PMID:25408630

Nakagawa, Tomoo; Katsuno, Tatsuro; Mandai, Yasushi; Saito, Masaya; Yoshihama, Sayuri; Saito, Keiko; Minemura, Shoko; Maruoka, Daisuke; Matsumura, Tomoaki; Arai, Makoto; Yokosuka, Osamu

2014-01-01

161

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

PubMed

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

2011-03-01

162

A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH  

PubMed Central

Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men. Most of these patients show the 47,XXY karyotype, whereas approximately 15% of them are mosaics with variable phenotype. A 39-year-old male investigated for primary infertility, was clinically normal with small firm testes and elevated levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed on semen analysis. Testicular histopathology revealed no spermatogenesis and absence of germ cells. Karyotype from whole blood culture showed cells with 47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY (83.67%). This was confirmed by fluorescence in situ hybridization (FISH). Also the presence of a small population of cells with the 48,XXXY and 45,X karyotypes was detected by FISH. This case illustrates the utility of FISH as an adjunct to conventional cytogenetics in assess the chromosome copy number in each cell line of a mosaic. PMID:25083188

Karimi, Hamideh; Sabbaghian, Marjan; Haratian, Kaveh; Vaziri Nasab, Hamed; Farrahi, Faramarz; Moradi, Shabnam Zari; Tavakolzadeh, Tayebeh; Beheshti, Zahra; Gourabi, Hamid; Meybodi, Anahita Mohseni

2014-01-01

163

Cholesterol: Its Regulation and Role in Central Nervous System Disorders  

PubMed Central

Cholesterol is a major constituent of the human brain, and the brain is the most cholesterol-rich organ. Numerous lipoprotein receptors and apolipoproteins are expressed in the brain. Cholesterol is tightly regulated between the major brain cells and is essential for normal brain development. The metabolism of brain cholesterol differs markedly from that of other tissues. Brain cholesterol is primarily derived by de novo synthesis and the blood brain barrier prevents the uptake of lipoprotein cholesterol from the circulation. Defects in cholesterol metabolism lead to structural and functional central nervous system diseases such as Smith-Lemli-Opitz syndrome, Niemann-Pick type C disease, and Alzheimer's disease. These diseases affect different metabolic pathways (cholesterol biosynthesis, lipid transport and lipoprotein assembly, apolipoproteins, lipoprotein receptors, and signaling molecules). We review the metabolic pathways of cholesterol in the CNS and its cell-specific and microdomain-specific interaction with other pathways such as the amyloid precursor protein and discuss potential treatment strategies as well as the effects of the widespread use of LDL cholesterol-lowering drugs on brain functions. PMID:23119149

Orth, Matthias; Bellosta, Stefano

2012-01-01

164

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

PubMed

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

2006-01-01

165

Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.  

PubMed

Cytochrome P450 (P450 or CYP) 46A1 is expressed in brain and has been characterized by its ability to oxidize cholesterol to 24S-hydroxycholesterol. In addition, the same enzyme is known to further oxidize 24S-hydroxycholesterol to the 24,25- and 24,27-dihydroxy products, as well as to catalyze side-chain oxidations of 7?-hydroxycholesterol and cholestanol. As precursors in the biosynthesis of cholesterol, 7-dehydrocholesterol has not been found to be a substrate of P450 46A1 and desmosterol has not been previously tested. However, 24-hydroxy-7-dehydrocholesterol was recently identified in brain tissues, which prompted us to reexamine this enzyme and its potential substrates. Here we report that P450 46A1 oxidizes 7-dehydrocholesterol to 24-hydroxy-7-dehydrocholesterol and 25-hydroxy-7-dehydrocholesterol, as confirmed by LC-MS and GC-MS. Overall, the catalytic rates of formation increased in the order of 24-hydroxy-7-dehydrocholesterol < 24-hydroxycholesterol < 25-hydroxy-7-dehydrocholesterol from their respective precursors, with a ratio of 1:2.5:5. In the case of desmosterol, epoxidation to 24S,25-epoxycholesterol and 27-hydroxylation was observed, at roughly equal rates. The formation of these oxysterols in the brain may be of relevance in Smith-Lemli-Opitz syndrome, desmosterolosis, and other relevant diseases, as well as in signal transduction by lipids. PMID:25017465

Goyal, Sandeep; Xiao, Yi; Porter, Ned A; Xu, Libin; Guengerich, F Peter

2014-09-01

166

Tosedostat in Combination With Cytarabine or Decitabine in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome  

ClinicalTrials.gov

Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

2014-06-09

167

An evaluation of the International Diabetes Federation definition of metabolic syndrome in Chinese patients older than 30 years and diagnosed with type 2 diabetes mellitus.  

PubMed

The objective of the study was to determine the most accurate metabolic syndrome (MS) definition among the definitions proposed by the International Diabetes Federation (IDF), the Third Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III [ATPIII]), and the World Health Organization (WHO) and to evaluate the cutoff point of waist circumference using the IDF definition for optimally defining MS in the Chinese population. One thousand thirty-nine Chinese patients older than 30 years and diagnosed with type 2 diabetes mellitus were investigated by randomized cluster sampling in the Shanghai downtown, and 1008 patients were analyzed in this study. Body mass measurements, resting blood pressure, fasting blood measures, and carotid atherosclerotic measurements including common carotid artery intima-media thickness (IMT) and carotid plaque were investigated. The IDF definition was compared with the other 2 definitions, and the carotid atherosclerosis was evaluated among the patients according to these definitions. (1) The MS prevalence was 50.0%, 55.7%, and 70.0% under the IDF, ATPIII, and WHO definitions, respectively. (2) The percentage of all the participants categorized as either having or not having the MS was 69.9% (under the IDF and ATPIII definitions) and 70.2% (under the IDF and WHO definitions). (3) Common carotid artery IMT of patients with MS determined by the IDF definition was thicker than those determined by the WHO and ATPIII definitions, and the percentage of carotid plaque of patients with MS determined by the IDF definition was greater than those determined by the WHO and ATPIII definitions. (4) When the cutoff point of waist circumference in men determined by the IDF definition was modified from 90 to 85 cm, common carotid artery IMT of the emerging male patients with MS was thicker than that of the male patients with MS determined by the original IDF definition. In conclusion, the prevalence of MS was 50.0%, 55.7%, and 70.0% under the IDF, ATPIII, and WHO definitions, respectively. The preferable IDF definition served as a better predictor of cardiovascular disease risk in the Chinese patients diagnosed with type 2 diabetes mellitus compared with the ATPIII and WHO definitions. The modified cutoff point of waist circumference in men under the IDF definition specific for the Chinese population (from 90 to 85 cm) might be more suitable for predicting atherosclerosis. PMID:16839846

Lu, Bin; Yang, Yehong; Song, Xiaoyan; Dong, Xuehong; Zhang, Zhaoyun; Zhou, Linuo; Li, Yiming; Zhao, Naiqing; Zhu, XiXing; Hu, Renming

2006-08-01

168

Polycystic Ovary Syndrome  

MedlinePLUS

... condition called polycystic ovary sydrome (PCOS) . What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ... having PCOS later on. Back Continue How Is Polycystic Ovary Syndrome Diagnosed? If you've taken your concerns about ...

169

Williams Syndrome What causes Williams syndrome?  

E-print Network

Williams Syndrome What causes Williams syndrome? Individuals with Williams syndrome usually in 1961, Williams syndrome affects males and females at equal rates and has been diagnosed in all ethnicities and socioeconomic backgrounds. What are the effects of Williams syndrome? While every individual

Palmeri, Thomas

170

How Is Marfan Syndrome Diagnosed?  

MedlinePLUS

... a dislocated lens, cataracts, or a detached retina. Genetic Testing In general, genetic testing involves blood tests to detect changes in genes. ... divided into major criteria and minor criteria. Sometimes genetic testing is part of this evaluation. Major criteria include ...

171

Why Metabolic Syndrome Matters  

MedlinePLUS

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

172

Thalassemia syndrome.  

PubMed

A 16 years old female patient diagnosed to have thalassemia syndrome in Black lion Hospital based on clinical presentation, complete blood count, peripheral morphology and bone marrow findings. PMID:25069213

Sherif, Abdulaziz A; G/Medhin, Amha; Tadesse, Fisihatsion; Tsegaye, Tewodros

2014-01-01

173

Noonan syndrome  

MedlinePLUS

... EKG , chest x-ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height ...

174

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. PMID:16926948

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

2005-01-01

175

How Do Health Care Providers Diagnose Adrenal Gland Disorders?  

MedlinePLUS

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

176

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. PMID:22690292

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

2012-01-01

177

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

ClinicalTrials.gov

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

2015-02-18

178

Fragile X syndrome  

MedlinePLUS

... may be the only sign of the disorder. Genetic testing can diagnose this disease. ... Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.

179

The severity of coronary atherosclerosis in diabetic and non-diabetic metabolic syndrome patients diagnosed according to different criteria and undergoing elective angiography  

Microsoft Academic Search

Our aim in this study was to evaluate the relationship between metabolic syndrome (MS) as defined by different criteria and\\u000a the severity of coronary lesions in a sample of diabetic and non-diabetic patients undergoing elective coronary angiography.\\u000a All patients had blood and urine tests, physical examinations were performed before angiography, and finally they were classified\\u000a based on three criteria (World

S. Ertek; A. F. Cicero; M. Cesur; M. Akcil; T. Altuner Kayhan; U. Avcioglu; M. E. Korkmaz

2011-01-01

180

The outcome in children with childhood autism and Asperger syndrome originally diagnosed as psychotic. A 30-year follow-up study of subjects hospitalized as children  

Microsoft Academic Search

This follow-up study reports data on 18 children fulfilling the ICD-10 criteria for childhood autism (n=9) and Asperger syndrome (n=9). In connection with the present study the original child psychiatric records were reassessed according to the ICD-10 criteria. The children were followed over a period of 30 years. The mean age at the time of study was 38 years. The

F. W. Larsen; S. E. Mouridsen

1997-01-01

181

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

PubMed Central

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

2013-01-01

182

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

SciTech Connect

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

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

1996-10-16

183

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

ClinicalTrials.gov

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

2014-12-29

184

Molecular Consequences of Altered Neuronal Cholesterol Biosynthesis  

PubMed Central

The first dedicated step in de novo cholesterol biosynthesis begins with formation of squalene and ends with the reduction of 7-dehydrocholesterol by 7-dehydrocholesterol reductase (Dhcr7) into cholesterol, which is an essential structural and signaling molecule. Mutations in the Dhcr7 gene lead to Smith-Lemli-Opitz syndrome (SLOS), which is characterized by developmental deformities, incomplete myelination, and mental retardation. To understand better the molecular consequences of Dhcr7 deficiency in neuronal tissue, we analyzed the effect of cholesterol deficiency on the transcriptome in Neuro2a cells. Transient down-regulation of Dhcr7 by siRNA led to altered expression of multiple molecules that play critical roles in intracellular signaling or vesicular transport or are inserted into membrane rafts (e.g. Egr1, Snx, and Adam19). A similar down-regulation was also observed in stable Dhrc7-shRNA-transfected cell lines, and the findings were verified by qPCR. Furthermore, we investigated the Dhcr7-deficient and control cells for the expression of several critical genes involved in lipid biosynthesis. Among these, fatty acid synthase, sterol-regulatory element binding protein 2, SREBF chaperone, site-1 protease, and squalene synthase showed a significant down-regulation, suggesting that, in a neuronal cell line, Dhcr7 is a potent regulator of lipid biosynthesis. Importantly, the gene expression changes were present in both lipid-containing and cholesterol-deficient media, suggesting that intrinsic cholesterol biosynthesis is necessary for normal neuronal function and cannot be supplemented from extrinsic sources. PMID:18951487

Korade, Željka; Kenworthy, Anne K.; Mirnics, Károly

2015-01-01

185

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. PMID:20800683

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

2010-01-01

186

Conversion of 7-Dehydrocholesterol to 7-Ketocholesterol Is Catalyzed by Human Cytochrome P450 7A1 and Occurs by Direct Oxidation without an Epoxide Intermediate  

PubMed Central

7-Ketocholesterol is a bioactive sterol, a potent competitive inhibitor of cytochrome P450 7A1, and toxic in liver cells. Multiple origins of this compound have been identified, with cholesterol being the presumed precursor. Although routes for formation of the 7-keto compound from cholesterol have been established, we found that 7-dehydrocholesterol (the immediate precursor of cholesterol) is oxidized by P450 7A1 to 7-ketocholesterol (kcat/Km = 3 × 104 m?1 s?1). P450 7A1 converted lathosterol (?5-dihydro-7-dehydrocholesterol) to a mixture of the 7-keto and 7?,8?-epoxide products (?1:2 ratio), with the epoxide not rearranging to the ketone. The oxidation of 7-dehydrocholesterol occured with predominant formation of 7-ketocholesterol and with the 7?,8?-epoxide as only a minor product; the synthesized epoxide was stable in the presence of P450 7A1. The mechanism of 7-dehydrocholesterol oxidation to 7-ketocholesterol is proposed to involve a FeIII-O-C-C+ intermediate and a 7,8-hydride shift or an alternative closing to yield the epoxide (Liebler, D. C., and Guengerich, F. P. (1983) Biochemistry 22, 5482–5489). Accordingly, reaction of P450 7A1 with 7-[2H1]dehydrocholesterol yielded complete migration of deuterium in the product 7-ketocholesterol. The finding that 7-dehydrocholesterol is a precursor of 7-ketocholesterol has relevance to an inborn error of metabolism known as Smith-Lemli-Opitz syndrome (SLOS) caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase, the last enzyme in the pathway, lead to the accumulation of 7-dehydrocholesterol in tissues and fluids of SLOS patients. Our findings suggest that 7-ketocholesterol levels may also be elevated in SLOS tissue and fluids as a result of P450 7A1 oxidation of 7-dehydrocholesterol. PMID:21813643

Shinkyo, Raku; Xu, Libin; Tallman, Keri A.; Cheng, Qian; Porter, Ned A.; Guengerich, F. Peter

2011-01-01

187

How Is Asthma Diagnosed?  

MedlinePLUS

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

188

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

PubMed

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

2011-12-01

189

Chronic Fatigue Syndrome (CFS): Diagnosis  

MedlinePLUS

... please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome (CFS) can be complicated by a number ...

190

Diagnosing mucopolysaccharidosis IVA.  

PubMed

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process. PMID:23371450

Wood, Timothy C; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J; D'Almeida, Vânia; van Diggelen, Otto P; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J

2013-03-01

191

How Are Thalassemias Diagnosed?  

MedlinePLUS

... page from the NHLBI on Twitter. How Are Thalassemias Diagnosed? Doctors diagnose thalassemias using blood tests , including a complete blood count ( ... in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less ...

192

How Is Sarcoidosis Diagnosed?  

MedlinePLUS

... page from the NHLBI on Twitter. How Is Sarcoidosis Diagnosed? Your doctor will diagnose sarcoidosis based on ... Content: Next >> Featured Video Living With and Managing Sarcoidosis 10/15/2014 June 14, 2013 Sarcoidosis Clinical ...

193

Ulnar tunnel syndrome.  

PubMed

Ulnar neuropathy at or distal to the wrist, the so-called ulnar tunnel syndrome, is an uncommon but well-described condition. However, diagnosis of ulnar tunnel syndrome can be difficult. Paresthesias may be nonspecific or related to coexisting pathologies, such as carpal tunnel syndrome, cubital tunnel syndrome, thoracic outlet syndrome, C8-T1 radiculopathy, or peripheral neuropathy, which makes accurate diagnosis challenging. The advances in electrodiagnosis, ultrasonography, computed tomography, and magnetic resonance imaging have improved the diagnostic accuracy. This article offers an updated view of ulnar tunnel syndrome as well as its etiologies, diagnoses, and treatments. PMID:24559635

Chen, Shih-Heng; Tsai, Tsu-Min

2014-03-01

194

Down syndrome masked by Marfan syndrome in a neonate  

PubMed Central

A male neonate with maternally inherited Marfan syndrome was also diagnosed with Down syndrome at 3?weeks of age. To our knowledge this is the first described case in the literature of the co-occurrence of Down syndrome and Marfan syndrome in a neonate. The diagnosis of Down syndrome was delayed and we hypothesise that Marfan syndrome had masked the usual phenotypic features of Down syndrome. The phenotype of this child is intriguing and has lead to speculation of the possible interaction of the two syndromes. PMID:23483062

Eayrs, Katie; Shettihalli, Naveen; Adwani, Satish

2013-01-01

195

Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS)  

MedlinePLUS

... Materials and Media Publications and Links Outbreaks Yosemite National Park Case Count Maps Epi Curves FAQ: U.S. Visitors to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS File Formats ... Content source: Centers for Disease Control and Prevention National Center for Emerging and Zoonotic Infectious Diseases (NCEZID) ...

196

How Is Long QT Syndrome Diagnosed?  

MedlinePLUS

... Medical history and the results from a physical exam Genetic test results EKG (Electrocardiogram) An EKG is a simple test ... increase your heart rate. Medical History and Physical Exam Your doctor ... your chest, which is the result of your heart beating too fast Loud gasping ...

197

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

1986-01-01

198

Another case of prenatally diagnosed 48,XYY,+21  

SciTech Connect

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

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

1995-02-13

199

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. PMID:6990627

Stolinsky, David C.

1980-01-01

200

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 syndrome;…

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

2012-01-01

201

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

2009-01-01

202

Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.  

PubMed

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS. PMID:24215131

Ferianec, Vladimír; Bartova, Michaela

2014-10-01

203

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. PMID:23661916

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

2013-01-01

204

Cauda equina syndrome  

Microsoft Academic Search

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

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

2001-01-01

205

Cubital tunnel syndrome  

Microsoft Academic Search

Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital

Steven Cutts

2007-01-01

206

[Differential diagnoses of Raynaud's phenomenon].  

PubMed

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

Ahrazoglu, M; Moinzadeh, P; Hunzelmann, N

2014-05-01

207

Cubital tunnel syndrome  

PubMed Central

Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital tunnel syndrome was reviewed, and key papers on upper limb and hand surgery were discussed with colleagues. PMID:17267675

Cutts, Steven

2007-01-01

208

One of the Rarest Syndromes in Dentistry: Gardner Syndrome  

PubMed Central

Gardner syndrome is a rare, autosomal dominant syndrome. It will follow a positive course with diagnosis and treatment by medical and dental specialists. Orthodontists or general dental physicians can easily diagnose the syndrome through radiological images taken in addition to dental and skeletal findings. The aim of this study was therefore to report two cases of this syndrome and to evaluate it from an orthodontic perspective in order to attract the attention of orthodontists to this rare anomaly. PMID:19212549

Basaran, Guvenc; Erkan, Mustafa

2008-01-01

209

How Are Arrhythmias Diagnosed?  

MedlinePLUS

... cardiologists who specialize in arrhythmias. Medical and Family Histories To diagnose an arrhythmia, your doctor may ask ... you have other health problems, such as a history of heart disease, high blood pressure , diabetes, or ...

210

Ultrasonic diagnosing apparatus  

SciTech Connect

An ultrasonic diagnosing apparatus displays a modified c-mode image of the target of an object to be diagnosed by mechanically moving an ultrasonic probe around the target portion while electronically driving the probe to scan the target. The ultrasonic diagnosing apparatus comprises a circuit for setting a desired cross-section to be diagnosed in the b-mode image of the target while observing said b-mode image, a memory for storing the data of the cross-section set by the cross-section setting circuit, a function generator for converting the position data into a function signal for controlling the scanning of the target and the processing of an ultrasonic echo signal reflected therefrom, a signal processing device for processing the ultrasonic echo signal under control of the function signal, and a display means for displaying a modified c-mode image of the target.

Uranishi, M.

1980-12-23

211

How Is Endocarditis Diagnosed?  

MedlinePLUS

... system and to check for inflammation. Echocardiography Echocardiography (echo) is a painless test that uses sound waves ... create pictures of your heart. Two types of echo are useful in diagnosing IE. Transthoracic (tranz-thor- ...

212

How Is Atherosclerosis Diagnosed?  

MedlinePLUS

... can help diagnose P.A.D. Echocardiography Echocardiography (echo) uses sound waves to create a moving picture ... well your heart chambers and valves are working. Echo also can identify areas of poor blood flow ...

213

How Is Cardiomyopathy Diagnosed?  

MedlinePLUS

... is useful for diagnosing some types of cardiomyopathy. Genetic Testing Some types of cardiomyopathy run in families. Thus, your doctor may suggest genetic testing to look for the disease in your parents, ...

214

How Is Lymphocytopenia Diagnosed?  

MedlinePLUS

... types of lymphocytes—T cells, B cells, and natural killer cells. The test can help diagnose the underlying ... may cause low levels of B cells or natural killer cells. Tests for Underlying Conditions Many diseases and ...

215

Diagnosing Abiotic Degradation  

EPA Science Inventory

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

216

Diagnosing and Managing IBD  

MedlinePLUS

... biomarkers include calprotectin and lactoferrin. Blood biomarkers include CRP & ESR. Research has shown that these biomarkers are ... Stool Tests* Test Descriptive Name Helps to Diagnose CRP C-reactive protein Inflammation (non-specific) ESR Erythrocyte ...

217

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. PMID:22027213

2011-01-01

218

Congenital Syndromes and Mildly Handicapped Students: Implications for Special Educators.  

ERIC Educational Resources Information Center

Many learning disabilities or cases of mild retardation are due to medically diagnosable, congenital syndromes, such as fetal alcohol syndrome, sex chromosome abnormalities, multiple anomaly syndromes, phenylketonuria, and Tourette Syndrome. These syndromes are discussed, and suggestions are given for special education management. (Author/JDD)

Smith, Sandra M.

1989-01-01

219

Understanding Prostate Cancer: Newly Diagnosed  

MedlinePLUS

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

220

Cushing's syndrome in pregnancy.  

PubMed

Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation. PMID:25430821

Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

2015-02-01

221

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

2009-01-01

222

Genotype-based databases for variants causing rare diseases.  

PubMed

Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which may be predicted by the genotype. Additional effects may be triggered by environmental factors, as well as genetic modifiers which could be nucleotide polymorphisms in related genes, e.g. maternal ApoE or ABCA1 genotypes which may have an influence on the phenotype of SLOS individuals. Here we report the establishment of genotype variation databases for various rare diseases which provide individual clinical phenotypes associated with genotypes and include data about possible genetic modifiers. These databases aim to be an easy public access to information on rare and private variants with clinical data, which will facilitate the interpretation of genetic variants. The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome). These genes have been selected because of our specific research interests in these rare and metabolic diseases. The aim of the database was to include all identified individuals with variants in these specific genes. Identical genotypes are listed multiple times if they were found in several patients, phenotypic descriptions and biochemical data are included as detailed as possible in view also of validating the proposed pathogenicity of these genotypes. For DHCR7 genetic modifier data (maternal APOE and ABCA1 genotypes) is also included. Databases are available at http://databases.lovd.nl/shared/genes and will be updated based on periodic literature reviews and submitted reports. PMID:25111118

Lanthaler, Barbara; Wieser, Stefanie; Deutschmann, Andrea; Schossig, Anna; Fauth, Christine; Zschocke, Johannes; Witsch-Baumgartner, Martina

2014-10-15

223

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.

2012-01-01

224

Bloom syndrome.  

PubMed

Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. PMID:24602044

Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

2014-07-01

225

Gorlin-Goltz syndrome  

PubMed Central

Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

2009-01-01

226

Gorlin-Goltz syndrome.  

PubMed

Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

2009-07-01

227

[Renal amyloidosis revealing a Kartagener's syndrome].  

PubMed

Kartagener's syndrome is a rare disease. It is a clinical variant of primary ciliary dyskinesia. It combines a situs inversus, chronic sinusitis and bronchiectasis. Glomerulopathies associated with this syndrome are rarely reported. We report the case of Kartagener's syndrome in a patient diagnosed at the age of 37 years with renal amyloidosis. PMID:25444585

El Houssni, S; Laine, M; Bziz, A; Alhamany, Z; Eddine Bourkadi, J; Bayahia, R

2015-02-01

228

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

1997-01-01

229

Alien limb syndrome and moya-moya disease.  

PubMed

We present the case of a 29-year-old woman with an alien limb and callosal disconnection syndrome who was diagnosed with moya-moya disease. We discuss the potential mechanisms responsible for the alien limb syndrome. PMID:15390006

Rabbani, Omid; Bowen, Lennon E; Watson, Robert T; Valenstein, Edward; Okun, Michael S

2004-11-01

230

An easily diagnosable PLA  

E-print Network

of these product lines. They are: 1. Sequence of consecutive 0. 2. Sequence of consecutive 1. 3. Isolated 0. 4 Isolated 1. Observation 6 The diagnosis I' or case 1 is that there exist product lines with a multiple s-a. -0 fault, or there exist multiple lines.... The following objectives [9] serve as diagnosability design goals: 1. Tests must remain valid in the presence of undetectable faults. 2. The size of the test set must be small. 3. Test vectors must be easily derived. 4. The cost of the hardware must be low...

Kao, Chung Min

1989-01-01

231

How Is Cystic Fibrosis Diagnosed?  

MedlinePLUS

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

232

Diagnosing Dementia—Positive Signs  

MedlinePLUS

... Navigation Bar Home Current Issue Past Issues Diagnosing Dementia—Positive Signs Past Issues / Fall 2007 Table of ... easy, affordable blood test that could accurately diagnose Alzheimer's disease (AD)—even before symptoms began to show? Researchers ...

233

Carpal tunnel syndrome diagnosis.  

PubMed

Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ultrasound imaging of the carpal tunnel provides supportive diagnostic information by revealing pathologic nerve swelling in CTS, and other anatomic anomalies that compress the median nerve. These tests cannot be used to make the diagnosis in the absence of history that includes CTS symptom criteria and excludes other causes. PMID:24787330

Sucher, Benjamin M; Schreiber, Adam L

2014-05-01

234

Prenatally diagnosed fetal ventriculomegaly; prognosis and outcome.  

PubMed

The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined fetal ventriculomegaly at 20-38 weeks' gestation were reviewed, together with follow-up data on postnatal outcome at a mean of 29 months after delivery. Sonographic measurements included head circumference, cerebral lateral ventricular diameter at the anterior and posterior horn level, and hemisphere diameter. Classification of psycho-motor development consisted of assessment of motoric behaviour, speech, communication and social skills ('Van Wiechen' classification). Perinatal mortality rate was 38 per cent, of which half were directly associated with cephalocentesis. Only the ventricle/hemisphere ratio for the anterior and posterior horn of the lateral cerebral ventricles was significantly higher among perinatal deaths than amongst the survivors. Within the subset of survivors (n = 26), psycho-motor development was normal in 46 per cent. Postnatal examination revealed syndrome anomalies in five infants, of which four were associated with psycho-motor retardation. Prenatally diagnosed ventriculomegaly has a poor postnatal outcome with more than 50 per cent of the live-born infants demonstrating abnormal psycho-motor development. The predictive value of fetal biometric measurements is poor. The presence of syndromal anomalies emphasizes the need for genetic counselling in future pregnancies. PMID:9664600

den Hollander, N S; Vinkesteijn, A; Schmitz-van Splunder, P; Catsman-Berrevoets, C E; Wladimiroff, J W

1998-06-01

235

How Is Pulmonary Embolism Diagnosed?  

MedlinePLUS

... diagnosed based on your medical history, a physical exam, and test results. Doctors who treat patients in the emergency room often are the ones to diagnose PE with the help of a radiologist. A radiologist is ... History and Physical Exam To diagnose PE, the doctor will ask about ...

236

Radial, renal and craniofacial anomalies: Baller-Gerold syndrome.  

PubMed

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases. PMID:19753208

Murthy, Jyotsna; Babu, Ramesh; Ramanan, Padmasani Venkat

2008-01-01

237

Fetal Conditions, Abnormalities and Diagnoses  

MedlinePLUS

... Surgery Sacrococcygeal Teratoma / SCT TRAP Sequence Fetal Surgery Twin-Twin Transfusion Syndrome Services For Patients and Families Our ... Amniotic Band Syndrome / ABS Gastroschisis Anomalies in Monochorionic Twins Hydrocephalus Aortic Stenosis Hydronephrosis Arachnoid Cyst Hypoplastic Left ...

238

Gorlin-Goltz Syndrome  

PubMed Central

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

2014-01-01

239

Gorlin-goltz syndrome.  

PubMed

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

2014-03-01

240

Diagnosable structured logic array  

NASA Technical Reports Server (NTRS)

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

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

2009-01-01

241

Diagnosing a PDS microdensitometer  

NASA Technical Reports Server (NTRS)

A number of diagnostic tests are developed for the Photometric Data System PDS 2020G microdensitometer to monitor its performance and to isolate various electromechanical problems. A number of tests which help to diagnose problems with the photometer, positional accuracy and data collection are described. The tests include: (1) scanning a razor blade edge to study the response of the photometer and zero point losses in the coordinate system, (2) scanning a long straight line to evaluate the drunkness of the stage motions, (3) scanning photometric step wedge calibrations to study the response of the photometer, and (4) measurement of a series of high signal to noise plates of the same region of the sky to evaluate the overall performance of the microdensitometer. A variety of electronic tests to isolate electromechanical problems are also performed.

Vanaltena, W.; Lee, J. F.; Wandersee, A.

1984-01-01

242

Nutcracker syndrome  

PubMed Central

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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-01-01

243

Nutcracker syndrome.  

PubMed

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

Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

2014-11-01

244

Anserine syndrome.  

PubMed

Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder. PMID:21125167

Helfenstein, Milton; Kuromoto, Jorge

2010-01-01

245

Brugada Syndrome  

PubMed Central

First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

ANTZELEVITCH, CHARLES

2007-01-01

246

Sotos syndrome  

PubMed Central

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

2007-01-01

247

Patient pain drawing in diagnosing the cause of exercise-induced leg pain  

Microsoft Academic Search

IntroductionClassifying symptoms by patient pain drawing (PPD) may be helpful in diagnosing chronic anterior compartment syndrome (CACS). We have investigated the sensitivity and interobserver reliability of the PPD to diagnose CACS among patients with exercise-induced leg pain (EILP).MethodsThis study included 88 consecutive patients (48 men, 40 women; mean age 33, range 13–66, years). Two observers independently diagnosed the causes of

K Rennerfelt; Q Zhang; J Styf

2011-01-01

248

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. PMID:15192162

Riedel, M

2004-01-01

249

Neuroblastoma in Children: Just Diagnosed Information  

MedlinePLUS

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

250

Antiphospholipid syndrome.  

PubMed

The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

George, Diane; Erkan, Doruk

2009-01-01

251

Genetics Home Reference: Fragile XE syndrome  

MedlinePLUS

... and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function ... not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, ...

252

Genetics Home Reference: Beckwith-Wiedemann syndrome  

MedlinePLUS

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

253

Fanconi syndrome  

MedlinePLUS

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

254

Aicardi Syndrome  

MedlinePLUS

NINDS Aicardi Syndrome Information Page Table of Contents (click to jump to sections) What is Aicardi Syndrome? Is there any treatment? ... being done? Clinical Trials Organizations What is Aicardi Syndrome? Aicardi syndrome is a rare genetic disorder that ...

255

Isaac's Syndrome  

MedlinePLUS

NINDS Isaacs' Syndrome Information Page Synonym(s): Neuromyotonia Table of Contents (click to jump to sections) What is Isaacs' Syndrome? ... is being done? Clinical Trials Organizations What is Isaacs' Syndrome? Issacs' syndrome (also known as neuromyotonia, Isaacs- ...

256

Tourette Syndrome  

MedlinePLUS

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

257

Parkinsonian Syndromes  

PubMed Central

Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

Williams, David R.; Litvan, Irene

2013-01-01

258

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

PubMed

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

2012-10-01

259

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)  

PubMed Central

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.

2012-01-01

260

Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes.  

PubMed

We describe a 13-year-old male with multiple endocrine neoplasia syndrome type 2B with medullary thyroid carcinoma who was diagnosed with ectopic adrenocorticotropin-dependent Cushing syndrome. This report highlights the importance of monitoring for paraneoplastic syndrome in MEN and clues to the diagnosis of this complication provided by growth patterns. PMID:24859505

Singer, Kanakadurga; Heiniger, Nicholas; Thomas, Inas; Worden, Francis P; Menon, Ram K; Chen, Ming

2014-09-01

261

Do you know this syndrome?*  

PubMed Central

POEMS syndrome is a unique clinical entity, the diagnosis of which is made when polyneuropathy and monoclonal gammopathy occur together, associated with other changes such as organomegaly, endocrinopathy, skin changes and papilledema. Cutaneous manifestations are heterogeneous, with diffuse cutaneous hyperpigmentation, hemangiomas and hypertrichosis occurring more frequently. We report the case of a 65- year-old female patient with this syndrome, diagnosed after 15 years of disabling peripheral neuropathy. PMID:24474120

Santos, Guida; Lestre, Sara; João, Alexandre

2013-01-01

262

How Is Polycythemia Vera Diagnosed?  

MedlinePLUS

... from the NHLBI on Twitter. How Is Polycythemia Vera Diagnosed? Polycythemia vera (PV) may not cause signs or symptoms for ... find out whether you have primary polycythemia (polycythemia vera) or secondary polycythemia. Your medical history and physical ...

263

Ankle Fractures Often Not Diagnosed  

MedlinePLUS

... Articles » Text Size Print Bookmark Ankle Fractures Often Not Diagnosed Long-term Complications Result from Poor Recovery ... sprain has serious consequences when the foot does not heal correctly. The American College of Foot and ...

264

How Is an Aneurysm Diagnosed?  

MedlinePLUS

... Is an Aneurysm Diagnosed? If you have an aortic aneurysm but no symptoms, your doctor may find it ... or abdominal pain. If you have an abdominal aortic aneurysm (AAA), your doctor may feel a throbbing mass ...

265

How Is Lactose Intolerance Diagnosed?  

MedlinePLUS

... following tests also can help diagnose lactose intolerance: Hydrogen breath test. For this test, a person drinks ... beverage that has lactose in it. Then, the hydrogen level in the breath is measured at set ...

266

[Polycystic ovary syndrome and insulin resistance].  

PubMed

Polycystic ovary syndrome is the most common endocrinopathy in women of reproductive age. Insulin resistance is frequently found in affected patients, and probably plays an important physiopathological role. In this paper, we will review the well recognized association between polycystic ovary syndrome and insulin resistance, and discuss the increased risk of glucose intolerance, type 2 diabetes and metabolic syndrome carried by patients diagnosed with this syndrome. We will also suggest a practical strategy for the screening and follow up of the various metabolic complications associated with polycystic ovary syndrome, in light of the rare existing recommendations of the current literature. PMID:19418980

Puder, Jardena; Pralong, François

2009-04-01

267

Nursing diagnoses: a Dutch perspective.  

PubMed

In this article, the authors adopt a position with respect to the definition of 'nursing diagnosis'. Two central functions of a classification system for nursing diagnoses are distinguished: domain and communication. Seven issues related to the development of such a classification system are discussed. These issues are of a methodological, philosophical and practical nature. A proposal is made for further study and development of a Dutch classification system for nursing diagnoses, preferably in collaboration with NANDA. PMID:7834142

Leih, P; Salentijn, C

1994-09-01

268

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

2007-01-01

269

Swyer-James-MacLeod Syndrome.  

PubMed

This case report describes a patient with Swyer-James-MacLeod Syndrome (SJMS) in an adult male diagnosed on the basis of findings on X-ray chest, high resolution CT (HRCT) of chest and radionuclide perfusion lung scan. This rare syndrome is considered to be an acquired disease due to repeated pneumonias in early childhood. PMID:18460255

Khalil, Kanwal Fatima; Saeed, Waseem

2008-03-01

270

Nontraumatic fat embolism syndrome in sickle cell anemia  

Microsoft Academic Search

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

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

1995-01-01

271

Atypical Presentations of Leigh Syndrome: A Case Series and Review  

Microsoft Academic Search

Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brain- stem dysfunction. However, the clinical presentation can be highly variable. This report presents five cases of Leigh syndrome with atypical presentations. The first patient is a 17-month-old female who presented with progressive limb weakness diagnosed as Guillain- Barré syndrome. Postmortem

Richard J. Huntsman; D. Barry Sinclair; Ravi Bhargava; Alicia Chan; Huntsman RJ; Sinclair DB; Chan A. Atypical

272

Treatment Options for Childhood Acute Myeloid Leukemia, Myelodysplastic Syndromes, and Juvenile Myelomonocytic Leukemia  

MedlinePLUS

Treatment Options for Childhood Acute Myeloid Leukemia, Childhood Chronic Myelogenous Leukemia, Juvenile Myelomonocytic Leukemia, and Myelodysplastic Syndromes Newly Diagnosed Childhood Acute Myeloid Leukemia Treatment of newly diagnosed childhood acute ...

273

Tarsal tunnel syndrome.  

PubMed

Tarsal tunnel syndrome, unlike its similar sounding counterpart in the hand, is a significantly misunderstood clinical entity. Confusion concerning the anatomy involved, the presenting symptomatology, the appropriateness and significance of various diagnostic tests, conservative and surgical management, and, finally, the variability of reported results of surgical intervention attests to the lack of consensus surrounding this condition. The terminology involved in various diagnoses for chronic heel pain is also a hodgepodge of poorly understood entities. PMID:21600447

Gould, John S

2011-06-01

274

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

275

Usher syndrome  

Microsoft Academic Search

Keywords Included diseases Excluded diseases History Definition Frequency of the various Usher syndromes Usher Syndrome Type 1 (USH1) Usher syndrome Type 2 (USH2) Usher syndrome Type 3 (USH3) Sensorineural Deafness with RP Diagnosis methods Management including treatment Genetic counseling Unresolved questions References Annex Abstract Usher syndrome is defined as a genetically heterogeneous condition comprising 12 independent loci with nine known

Birgit Lorenz; John Marshall

276

The Association of Psychiatric Diagnoses, Health Service Use, and Expenditures in Children with Obesity-related Health Conditions  

Microsoft Academic Search

Objective To examine the association of psychiatric diagnoses and use of health care services in children with obesity-related health conditions. Method A retrospective, longitudinal design was used to examine Medicaid claims data. The data set consisted of 13,688 youth diagnosed with type 2 diabetes, metabolic syndrome, dyslipidemia, or obesity. Results The presence of any type of psychiatric diagnosis was associated

David M. Janicke; Jeffrey S. Harman; Kelly J. Kelleher; Jianyi Zhang

2007-01-01

277

Baboon syndrome induced by ketoconazole.  

PubMed

A 27-year-old male patient presented with a maculopapular eruption on the flexural areas and buttocks after using oral ketoconazole. The patient was diagnosed with drug-induced baboon syndrome based on his history, which included prior sensitivity to topical ketoconazole, a physical examination, and histopathological findings. Baboon syndrome is a drug- or contact allergen-related maculopapular eruption that typically involves the flexural and gluteal areas. To the best of our knowledge, this is the first reported case of ketoconazole-induced baboon syndrome in the English literature. PMID:24641119

Gulec, Ali Ihsan; Uslu, Esma; Ba?kan, Elife; Yavuzcan, Gizem; Aliagaoglu, Cihangir

2014-12-01

278

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

DOEpatents

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)

2000-01-01

279

Williams syndrome  

MedlinePLUS

Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

280

Dravet Syndrome  

MedlinePLUS

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

281

Down Syndrome  

MedlinePLUS

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

282

Dumping Syndrome  

MedlinePLUS

... Disease Organizations?? (PDF, 341 KB)????? Alternate Language URL Dumping Syndrome Page Content DUE TO UNFORESEEN CIRCUMSTANCES, PUBLICATION ... through Research For More Information Acknowledgments What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

283

Brown Syndrome  

MedlinePLUS

... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

284

Adult Presentation of PHACES Syndrome  

PubMed Central

Summary A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome. PMID:21696650

Arora, S.S.; Plato, B.M.; Sattenberg, R.J.; Downs, R.K.; Remmel, K.S.; Heidenreich, J.O.

2011-01-01

285

Immunological methods for diagnosing neurocysticercosis  

SciTech Connect

A method is described for diagnosing active human neurocysticercosis by detecting the presence of at least one Taenia solium larval antigen in cerebrospinal fluid, which comprises: contacting cerebrospinal fluid from a human to be diagnosed with a solid support, wherein the support binds with a Taenia solium larval antigen if present, contacting the support with a first antibody, wherein the first antibody binds with a larval Taenia solium antigen if present in the cerebrospinal fluid, contacting the solid support with a detectable second antibody which will bind with the first antibody, and detecting the second antibody bound to the support.

Kuhn, R.E.; Estrada, J.J.; Grogl, M.

1989-01-31

286

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.  

PubMed

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

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

2015-03-01

287

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome  

PubMed Central

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

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

2015-01-01

288

Hyperlipidaemia diagnosed at lumbar puncture.  

PubMed Central

A patient presenting with subarachnoid haemorrhage and high lipid concentrations in the cerebrospinal fluid (taken at lumbar puncture), who has later shown to have type V hyperlipidaemia is described. This case, so far as can be ascertained by the authors, is the first report of hyperlipidaemia being diagnosed from CSF examination. Images Fig. 1 PMID:7267506

Burke, B. J.; McKee, J. I.; Hargreaves, T.

1981-01-01

289

Diagnosable Systems for Intermittent Faults  

Microsoft Academic Search

Diagnosable systems composed of interconnected units which are capable of testing each other have been studied primarily from the point of view of permanent faults. Along such lines, designs have been proposed, and necessary and sufficient conditions for the diagnosis of such faults have been established. In this paper, we study the intermittent fault diagnosis capabilities of such systems. Necessary

Sivanarayana Mallela; Gerald M. Masson

1978-01-01

290

Psychosomatic syndromes and anorexia nervosa  

PubMed Central

Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN), few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR) to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP) were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63%) and alexithymia (54.6%) resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%), somatization group (26%), and severe psychosomatic group (25%). The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments. PMID:23302180

2013-01-01

291

Metabolic Syndrome  

MedlinePLUS

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

292

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. PMID:21544770

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

2013-01-01

293

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. PMID:11190026

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

2000-01-01

294

Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC.  

PubMed

The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT) system to study alpha-thalassemia and beta-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of alpha-thalassemia and beta-thalassemia disorders, including Hb H, EA Bart's disease, and EF Bart's disease, in adults, newborns, and fetuses. The system cannot quantify accurately certain Hb molecules, such as Hb H and Hb Bart's. The alpha-thalassemia short program was therefore developed and used to quantify Hb Bart's to detect alpha-thalassemia genotypes in cord blood. This automated HPLC system is an alternative approach to the diagnosis of complicated thalassemia syndromes in Thailand and Southeast Asia. PMID:9554484

Fucharoen, S; Winichagoon, P; Wisedpanichkij, R; Sae-Ngow, B; Sriphanich, R; Oncoung, W; Muangsapaya, W; Chowthaworn, J; Kanokpongsakdi, S; Bunyaratvej, A; Piankijagum, A; Dewaele, C

1998-04-01

295

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

E-print Network

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

Nguyen, Danh

296

Non-Hodgkin’s lymphoma among the gamut of differential diagnoses for shoulder pain  

Microsoft Academic Search

To the editor, For most adult patients with shoulder pain, complaints are related to degenerative or inflammatory joint disease, instability, impingement syndrome and trauma. A neoplasm is a rare cause of shoulder pain, but should always be considered in the differential diagnosis. Herein, we report a patient with shoulder pain who was later diagnosed to have a rare primary bone

Gulay Sain Guven; Yalç?n Solak; Oya Ünal; Levent Özçakar

2005-01-01

297

[Hypothenar hammer syndrome as a rare cause of Raynaud syndrome].  

PubMed

A 25-year-old carpenter with severe localised Raynaud syndrome of the lateral three fingers of his right hand is described. The patient reported digital ischaemia caused by cold or vibration, and especially when both were present simultaneously. He was initially diagnosed with thrombangitis obliterans, but failed to respond to intravenous prostaglandin therapy, pentoxifyllin or aspirin. Diagnostic procedures performed in our hospital, especially angiography, confirmed our suspicion of hypothenar hammer syndrome. Radiological examination revealed severe anatomical and functional changes of the distal ulnar artery and, digital arteries of the affected digits. The differential diagnosis of Raynaud syndrome should include the hypothenar hammer syndrome as a possible cause. Early diagnosis and prevention of hand trauma is the only possible way to stop progression of this disease, which leads to invalidity. PMID:8707586

Klyscz, T; Jünger, M; Duda, S; Rassner, G

1996-05-01

298

Davidoff-Dyke-Masson Syndrome Presenting as Childhood Schizophrenia.  

ERIC Educational Resources Information Center

The article presents a case history of a child displaying symptoms of schizophrenia, seizures, and retardation without neurological abnormalities, which were eventually diagnosed as being due to Davidoff-Dyke-Masson syndrome, a condition involving gross anatomical brain pathology. (DLS)

White, James H.; Rust, John B.

1979-01-01

299

Genetics Home Reference: 1p36 deletion syndrome  

MedlinePLUS

... individuals are likely never diagnosed. What are the genetic changes related to 1p36 deletion syndrome? 1p36 deletion ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...

300

How Do Health Care Providers Diagnose Vulvodynia?  

MedlinePLUS

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

301

[Greater trochanteric pain syndrome].  

PubMed

Greater trochanteric pain is one of the common complaints in orthopedics. Frequent diagnoses include myofascial pain, trochanteric bursitis, tendinosis and rupture of the gluteus medius and minimus tendon, and external snapping hip. Furthermore, nerve entrapment like the piriformis syndrome must be considered in the differential diagnosis. This article summarizes essential diagnostic and therapeutic steps in greater trochanteric pain syndrome. Careful clinical evaluation, complemented with specific imaging studies and diagnostic infiltrations allows determination of the underlying pathology in most cases. Thereafter, specific nonsurgical treatment is indicated, with success rates of more than 90?%. Resistant cases and tendon ruptures may require surgical intervention, which can provide significant pain relief and functional improvement in most cases. PMID:24414233

Gollwitzer, H; Opitz, G; Gerdesmeyer, L; Hauschild, M

2014-01-01

302

Marfan Syndrome  

MedlinePLUS

... doctors discovered a connective tissue disorder known as Loeys-Dietz syndrome, which has several characteristics that overlap with those ... the two is different. A diagnostic test for Loeys-Dietz syndrome is available. What Types of Doctors Treat Marfan ...

303

Morquio syndrome  

MedlinePLUS

Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn't have ... Morquio syndrome is an autosomal recessive trait. If both parents carry the defective gene related to this condition, ...

304

Reye Syndrome  

MedlinePLUS

... What to Expect Reye Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > Reye Syndrome Print A A A ... include: frequent vomiting tiredness or sleepiness in babies, diarrhea and rapid breathing irritability or aggressive behavior Other ...

305

Myelodysplastic Syndromes  

MedlinePLUS

... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

306

Down Syndrome  

MedlinePLUS

... Digestive System How the Body Works Main Page Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

307

Klinefelter Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

308

Tourette Syndrome  

MedlinePLUS

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

309

Sotos Syndrome  

MedlinePLUS

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 ...

310

Antiphospholipid antibody syndrome.  

PubMed

Antiphospholipid antibodies (aPLs) are acquired antibodies directed against negatively charged phospholipids. Obstetric antiphospholipid antibody syndrome (APS) is diagnosed in the presence of certain clinical features in conjunction with positive laboratory findings. Obstetric APS is one of the most commonly identified causes of recurrent pregnancy loss. Thus, obstetric APS is distinguished from APS in other organ systems where the most common manifestation is thrombosis. Several pathophysiologic mechanisms of action of aPLs have been described. This article discusses the diagnostic and obstetric challenges of obstetric APS, proposed pathophysiologic mechanisms of APS during pregnancy, and the management of women during and after pregnancy. PMID:24491987

Kutteh, William H; Hinote, Candace D

2014-03-01

311

The irritable bowel syndrome.  

PubMed Central

Irritable bowel syndrome is a common disorder varying in severity from trivial to incapacitating. The pathophysiology and epidemiology are gradually being unravelled and it is now becoming apparent just how poor the quality of life of some of these patients can be. It is no longer acceptable practice to diagnose the condition and discharge the patient on a high fibre diet, particularly as the latter can often make the situation worse. Although hard to treat, worthwhile responses can be achieved by careful targeting of therapy to the many different facets of the disorder. PMID:9039402

Francis, C. Y.; Whorwell, P. J.

1997-01-01

312

Tics and tourette syndrome.  

PubMed

Gilles de la Tourette syndrome is a common neuropsychiatric disorder spectrum with tics as the defining feature. Comorbidities such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder often complicate clinical presentation. Their recognition is paramount for the introduction of efficient treatment strategies to promote healthy development and good quality of life. Here, knowledge on the movement disorder of tics, the spectrum of associated comorbidities, and the list of differential diagnoses of tic disorders are summarized. Also, an account of the prevailing pathophysiologic models of tic generation is provided, and a concise update on contemporary treatment strategies is presented. PMID:25432726

Ganos, Christos; Martino, Davide

2015-02-01

313

Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome  

PubMed Central

Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome. PMID:25489577

Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju

2014-01-01

314

Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.  

PubMed

Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome. PMID:25489577

Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

2014-11-01

315

Down syndrome  

MedlinePLUS

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

316

Aase syndrome  

MedlinePLUS

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

317

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

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

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

2009-01-01

318

Rowell syndrome  

PubMed Central

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-01-01

319

An exome sequencing strategy to diagnose lethal autosomal recessive disorders  

PubMed Central

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

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

2015-01-01

320

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

2004-01-01

321

Diagnosis and Management of the Hepatorenal Syndrome  

Microsoft Academic Search

The hepatorenal syndrome (HRS) is defined as the development of renal failure in patients with severe liver disease in the\\u000a absence of any other identifiable cause of renal pathology. Although classically associated with cirrhosis, it is now recognized\\u000a that a similar syndrome occurs in patients with acute liver failure (1). It is diagnosed following the exclusion of other causes of

Kevin Moore

322

Congenital cataracts, facial dysmorphism, and neuropathy syndrome.  

PubMed

Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. We present the second case of this syndrome in a Greek Roma family, diagnosed in early infancy, along with the prenatal diagnosis in a subsequent pregnancy. PMID:21824574

Tzifi, Flora; Pons, Roser; Athanassaki, Corina; Poulou, Myrto; Kanavakis, Emmanuel

2011-09-01

323

Misdiagnosis of Alcohol-Related Organic Brain Syndromes  

Microsoft Academic Search

In this article the authors present historical evidence that Black patients with organic brain syndromes (OBS) associated with alcoholism are often incorrectly diagnosed as schizophrenic. Case histories of patients with OBS associated with alcoholism who have been diagnosed as schizophrenic are presented. Factors responsible for the misdiagnosis of Blacks with OBS associated with alcoholism are then discussed. Neurochemical evidence is

Carl C. Bell; Jay Paul Thompson; Darnell Lewis; Juanita Redd; Mary Shears; Belinda Thompson

1985-01-01

324

Prolapse of all cardiac valves in Noonan syndrome.  

PubMed

Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with prolapse of all four cardiac valves after 22?years of uneventful survival. PMID:25716036

Otikunta, Adikesava Naidu; Subbareddy, Y V; Polamuri, Praneeth; Thakkar, Ashok

2015-01-01

325

Radiological features of familial Gorlin-Goltz syndrome  

PubMed Central

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

Shetty, Shishir Ram

2012-01-01

326

Radiological features of familial Gorlin-Goltz syndrome.  

PubMed

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

2012-03-01

327

Velocardiofacial Syndrome and Early Intervention Providers: Recommendations for Intervention  

ERIC Educational Resources Information Center

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

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

2012-01-01

328

The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.  

ERIC Educational Resources Information Center

The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

McCauley, Elizabeth; And Others

1987-01-01

329

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.

2008-01-01

330

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. PMID:17078254

Krysak, Dorothy E.

2006-01-01

331

Evaluation of tumour markers in patients with burning mouth syndrome  

Microsoft Academic Search

Burning mouth syndrome (BMS) is an enigmatous condition both for the patient and the clinician, and is diagnosed on the basis of the patient's symptoms when they have on examination an apparently healthy looking oral mucosa. A variety of local and systemic factors are known to contribute to burning mouth syndrome. Some authors reported that underlying malignancy could be a

V Vu?i?evi?-Boras; L. J Lukinac; A Ceki?-Arambašin

2003-01-01

332

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema  

PubMed Central

Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient. PMID:25032053

Mahgoub, Linda; Aziz, Khalid; Davies, Dawn; Leonard, Norma

2014-01-01

333

Theory of Mind, Causal Attribution and Paranoia in Asperger Syndrome  

Microsoft Academic Search

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

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

2001-01-01

334

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

Microsoft Academic Search

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

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

2010-01-01

335

Is the intersection syndrome is an occupational disease? Descatha Alexis 1 2 *  

E-print Network

and the dorsal compartment of the right wrist. A hand surgeon diagnosed an intersection syndrome and gave oralIs the intersection syndrome is an occupational disease? Descatha Alexis 1 2 * , Leproust H l neé è: Alexis Descatha Abstract Summary The intersection syndrome, described since

Paris-Sud XI, Université de

336

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

PubMed Central

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

2014-01-01

337

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

338

Extrapyramidal syndromes: PET and SPECT.  

PubMed

Extrapyramidal syndromes (ES) belong to the most common neurologic illnesses. Because new and promising therapeutic options are currently under development, there is a substantial demand for molecular imaging procedures with the potential to identify the pathologic changes of those illnesses. This article gives an overview of the current positron emission tomography and single photon emission computed tomography applications for diagnosing ES and focuses on their use in clinical practice. PMID:19959018

Tatsch, Klaus

2010-02-01

339

Costello syndrome: clinical diagnosis in the first year of life  

Microsoft Academic Search

We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and try to outline the clinical\\u000a characteristics facilitating early recognition of this syndrome, which can now be corroborated by testing the HRAS gene. Phenotypical overlap of CS with Noonan (NS) and cardiofaciocutaneous syndrome (CFCS), particularly in neonatal age,\\u000a is well known. Diagnostic features useful

M. Cristina Digilio; Anna Sarkozy; Rossella Capolino; M. Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola

2008-01-01

340

Uncommon variants of the scimitar syndrome in two siblings  

PubMed Central

The Scimitar syndrome is a complex association of cardiovascular and bronchopulmonary abnormalities, with the main feature a partial or total anomalous right pulmonary venous drainage to the inferior vena cava. A number of cases that lack of all the features of the typical syndrome have been described as Scimitar variant, but the incidence is rare. Familial occurrence is exceptional and limited to few cases in literature. We report two sibling diagnosed with an uncommon variant of the Scimitar syndrome. PMID:25684890

Bo, Ilaria; Daubeney, Piers E F; Rigby, Michael L

2015-01-01

341

Intussusception of the rectum and the solitary ulcer syndrome.  

PubMed

A general review is given of the intussusception of the rectum, the paradoxical contraction of the pelvic floor syndrome and of the solitary ulcer syndrome. The latter is in most cases a symptom of the other two as is the descending perineum syndrome. The conditions are diagnosed by defecography, proctosigmoidoscopy and EMG. The etiologies are unknown. The treatment is either conservative or operative. PMID:2076274

Ihre, T

1990-12-01

342

Acute Idiopathic Compartment Syndrome of the Forearm in an Adolescent  

PubMed Central

Acute compartment syndrome (ACS) is a condition typically associated with long bone fractures or severe trauma; however, non-traumatic etiologies also occur. We describe a case of an otherwise healthy female pediatric patient presenting with unilateral forearm pain without an inciting injury. Intracompartmental pressures of the forearm were measured and she was diagnosed with idiopathic compartment syndrome. Our goal is to encourage clinicians to consider acute compartment syndrome even in the absence of trauma. PMID:25671029

Smith, Kelley; Wolford, Robert W.

2015-01-01

343

Cuboid Syndrome: a Review of the Literature  

PubMed Central

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

Patterson, Stephen M.

2006-01-01

344

047. Endobronchial hamartoma diagnosed incidentally  

PubMed Central

Background Hamartoma, the most common benign lung tumor is often located peripherally in the lung parenchyma and rarely endobronchially: in this case it is diagnosed because of complications secondary to bronchial obstruction or because of chronic cough, hemoptysis and wheezing. We present a case of endobronchial hamartoma, discovered by chance. Case report We present the case of a 62-year-old man with a history of arterial hypertension, diabetes mellitus and anxiety disorder, who was hospitalized because of acute respiratory failure and persistent fever despite receiving cefuroxime. The radiological examination showed opacities of the right lower lobe which progressed to lung consolidation and right pleural effusion. The chest CT scan revealed peribronchial infiltration in the right lower lobe with concomitant parapneumonic effusion, as well as an endobronchial nodule in the left main bronchus. The characters of the pleural fluid after thoracocentesis were: pH =7.48, ADA =16 U/L, glu =143 gr/dL, total protein =3.54 gr/dL, albumin =2.16 gr/dL, 3,800 cells, 80% neutrophils. The cytological examination of the pleural fluid was negative for malignancy. The patient underwent bronchoscopy, which revealed a lesion of significant size in the left main bronchus before its division into upper and lower left bronchus, while no abnormal findings were found in the right bronchial tree. The cytological examination of bronchial brushing and bronchial washings were negative for malignancy, and the pathologic examination of the lesion revealed findings of hamartoma. The patient was treated with oxygen therapy and administration of moxifloxacin. Fever resolved within two days, respiratory failure was gradually restored, and radiographic findings resolved in ten days. The patient refused any intervention and is monitored regularly with a stable clinical and radiographic picture. Conclusions The reported case is rare because of the localization of endobronchial hamartoma, which was diagnosed incidentally, without being accompanied by characteristic clinical and radiological findings. The likelihood of hamartoma should be included in the differential diagnosis of endobronchial lesions.

Moulara, Evdokia; Siopi, Dimitra; Tryfon, Stavros; Ampelidou, Varvara; Cheva, Angelliki; Palladas, Panagiotis; Chloros, Diamantis; Tsara, Venetia

2015-01-01

345

[Nicolau syndrome after intramuscular injection].  

PubMed

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

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

2014-04-01

346

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. PMID:23723494

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

2013-01-01

347

T-cell lymphoma with POEMS syndrome  

PubMed Central

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

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

2015-01-01

348

Novel approaches in diagnosing tuberculosis  

NASA Astrophysics Data System (ADS)

The WHO declared tuberculosis (TB) a global emergency. An estimated 8-9 million new cases occur each year with 2-3 million deaths. Currently, TB is diagnosed mostly by chest-X ray and staining of the mycobacteria in sputum with a detection limit of 1x104 bacteria /ml. There is an urgent need for better diagnostic tools for TB especially for developing countries. We have validated the electronic nose from TD Technology for the detection of Mycobacterium tuberculosis by headspace analysis of 284 sputum samples from TB patients. We used linear discriminant function analysis resulting in a sensitivity of 75% a specificity of 67% and an accuracy of 69%. Further research is still required to improve the results by choosing more selective sensors and sampling techniques. We used a fast gas chromatography- mass spectrometry method (GC-MS). The automated procedure is based on the injection of sputum samples which are methylated inside the GC injector using thermally assisted hydrolysis and methylation (THM-GC-MS). Hexacosanoic acid in combination with tuberculostearic acid was found to be specific for the presence of M. tuberculosis. The detection limit was similar to microscopy. We found no false positives, all microscopy and culture positive samples were also found positive with the THM-GC-MS method. The detection of ribosomal RNA from the infecting organism offers great potential since rRNA molecules outnumber chromosomal DNA by a factor 1000. It thus may possible to detect the organism without amplification of the nucleic acids (NA). We used a capture and a tagged detector probe for the direct detection of M. tuberculosis in sputum. So far the detection limit is 1x106 bacteria / ml. Currently we are testing a Lab-On-A-Chip Interferometer detection system.

Kolk, Arend H. J.; Dang, Ngoc A.; Kuijper, Sjoukje; Gibson, Tim; Anthony, Richard; Claassens, Mareli M.; Kaal, Erwin; Janssen, Hans-Gerd

2011-06-01

349

Cushing syndrome  

MedlinePLUS

... Tumors elsewhere in the body that produce ACTH ( ectopic Cushing syndrome ) ... the condition will return. Survival for people with ectopic tumors depends on the tumor type. Untreated, Cushing ...

350

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 become…

Bert, Cynthia R. Greene; Bert, Minnie

351

Metastatic Angiosarcoma and Kasabach-Merritt Syndrome  

PubMed Central

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

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

2014-01-01

352

Neovascular Glaucoma in Ocular Ischemic Syndrome  

E-print Network

We report a case of ocular ischemic syndrome accompanied by neovascular glaucoma that was successfully treated with Bevacizumab. A 70-year-old male patient diagnosed with neovascular glaucoma of the left eye 3-4 years prior complained of continuous left eye pain and declining visual acuity despite

unknown authors

353

Aging in Rare Intellectual Disability Syndromes  

ERIC Educational Resources Information Center

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

Dykens, Elisabeth M.

2013-01-01

354

Ophthalmic midline dysgenesis in Kallmann syndrome.  

PubMed

Partial coloboma, observed only with transillumination techniques, occur in 16% of male patients diagnosed with Kallmann syndrome. This sign represents an additional midline defect in this multisystem disorder noted for midline dysgenesis. Its high incidence may be helpful in the diagnosis of this disorder although it does not appear to be the harbinger of any other ocular abnormality. PMID:3438056

Jaffe, M J; Currie, J; Schwankhaus, J D; Sherins, R J

1987-11-01

355

XX male syndrome in a cryptorchid stallion.  

PubMed

A bilateral cryptorchid stallion with mild development of mammary glands was identified as an XX male by karyotyping. Necropsy revealed underdeveloped accessory sex organs and hypoplastic, inguinally located testes that were deficient of spermatogonia. Evaluation of routine hormonal profiles (without karyotyping) would have failed to diagnose this syndrome. PMID:7928556

Constant, S B; Larsen, R E; Asbury, A C; Buoen, L C; Mayo, M

1994-07-01

356

Acute compartment syndrome  

PubMed Central

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

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

2015-01-01

357

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. PMID:19032739

Lo Muzio, Lorenzo

2008-01-01

358

Down Syndrome What causes Down syndrome?  

E-print Network

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

Palmeri, Thomas

359

Clinical management of hereditary colorectal cancer syndromes.  

PubMed

Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects. PMID:25582351

Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

2015-02-01

360

Diagnosing network-wide traffic anomalies  

Microsoft Academic Search

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

Anukool Lakhina; Mark Crovella; Christophe Diot

2004-01-01

361

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

1999-01-01

362

Angelman syndrome  

MedlinePLUS

... Genet. 2003;40(2):87-95. Dagli A, Williams CA. Angelman Syndrome. In: Pagon RA, Bird TD, Dolan CR, et ... Med Genet A. 2006;140(5):413-8. Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385-95.

363

Poland syndrome  

PubMed Central

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

2014-01-01

364

Winchester syndrome  

Microsoft Academic Search

Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is

G. Matthiesen; V. Faurholt Pedersen; P. Helin; G. Krag Jacobsen; N. Søe Nielsen

2001-01-01

365

HELLP Syndrome  

MedlinePLUS

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

366

[Cotard syndrome].  

PubMed

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

1996-01-01

367

Bazex Syndrome*  

PubMed Central

Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922

Rodrigues Júnior, Ismael Alves; Gresta, Letícia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintão

2013-01-01

368

Turner syndrome  

MedlinePLUS

Growth hormone may help a child with Turner syndrome grow taller. Estrogen replacement therapy is often started when the girl is 12 or 13 years old. This helps trigger the growth of breasts, ... Women with Turner syndrome who wish to become pregnant ...

369

Metabolic Syndrome  

MedlinePLUS

... syndrome can lead to. Back Continue Changing Your Course In the case of metabolic syndrome, making a couple of lifestyle changes is the best way to keep yourself on a track to good health. Here are the top ones: Drop excess pounds. If you're overweight, ...

370

[Hypereosinophilic syndrome].  

PubMed

In light of a case of hypereosinophilic syndrome with no revealing underlying disease, the diagnosis and treatment of idiopathic hypereosinophilic syndrome (HES) are discussed. The recent evidence that there are two variants of HES, myeloproliferative and lymphocytic, is considered. PMID:16336860

Troelsen, Lone N; Boisen, Lotte W; Andersen, Ove

2005-12-01

371

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. PMID:23633933

Derderian, Christopher; Seaward, James

2012-01-01

372

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

2013-01-01

373

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

ERIC Educational Resources Information Center

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

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

2013-01-01

374

Technology for Just-In-Time In-Situ Learning of Facial Affect for Persons Diagnosed with an Autism Spectrum  

E-print Network

); Asperger syndrome (AS); and Pervasive Developmental Disorder ­ Not Otherwise Specified (PDD-NOS). Figure 1. INTRODUCTION Autism spectrum disorder (ASD) encompasses a wide range of developmental issues that typically@media.mit.edu ABSTRACT Many first-hand accounts from individuals diagnosed with autism spectrum disorders (ASD) highlight

375

Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome  

PubMed Central

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

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

2014-01-01

376

Metastatic Basal cell carcinoma accompanying gorlin syndrome.  

PubMed

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

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

2014-01-01

377

Inherited bone marrow failure syndromes in adolescents and young adults.  

PubMed

The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed. PMID:24888387

Wilson, David B; Link, Daniel C; Mason, Philip J; Bessler, Monica

2014-09-01

378

Coping with the diagnostic complexities of the compartment syndrome  

NASA Technical Reports Server (NTRS)

This review recognizes that, given the various complexities associated with the condition, no pat answers can be given to fit every patient with the compartment syndrome. The authors first give a definition of the syndrome, together with a brief account of how this self-perpetuating pathologic cycle is triggered. Next, they delineate specific anatomical features of compartments that are likely to be involved, and follow this with an inventory of symptoms and signs to look for in suspected cases. After sorting out the entities that can mimic the compartment syndrome, the authors describe three essential techniques of measuring tissue pressure, which can prove invaluable in diagnosing the compartment syndrome.

Mubarak, S. J.; Hargens, A. R.; Karkal, S. S.

1988-01-01

379

Gorlin-Goltz syndrome: a rare case report.  

PubMed

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

2013-01-01

380

CHARGE syndrome  

PubMed Central

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions. PMID:16959034

Blake, Kim D; Prasad, Chitra

2006-01-01

381

Goldenhar syndrome.  

PubMed

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

Sharma, Neeraj; Passi, Sidhi

2013-01-01

382

Olmsted Syndrome  

PubMed Central

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood. The disease has a slow but progressive and extremely disabling course. Treatment of Olmsted syndrome is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. The present paper describes a case of Olmsted syndrome and its treatment. PMID:23320205

Elise Tonoli, Renata; De Villa, Damiê; Hübner Frainer, Renata; Pizzarro Meneghello, Luana; Ricachnevsky, Nelson; de Quadros, Maurício

2012-01-01

383

Diagnosing Asthma in Very Young Children  

MedlinePLUS

... Asthma in Babies & Toddlers Health Issues Listen Diagnosing Asthma in Babies & Toddlers Article Body One of the ... family with recurrent bronchitis or sinus problems. When Asthma is Not the Cause Your pediatrician will listen ...

384

Updated Diagnoses and Evidence-based Treatments  

E-print Network

-IV Diagnosis of Drug Problems · drug abuse is diagnosed by 1 (or more) out month period #12;Drug abuse is voluntary, the user has control over drug use and is making bad choices. (We could say that drug abusers

Hofmann, Hans A.

385

How Is Sickle Cell Anemia Diagnosed?  

MedlinePLUS

... from the NHLBI on Twitter. How Is Sickle Cell Anemia Diagnosed? A simple blood test, done at ... Next >> Featured Video Living With and Managing Sickle Cell Disease (Nicholas) 10/14/2014 Living With and ...

386

How Do Health Care Providers Diagnose Pheochromocytoma?  

MedlinePLUS

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

387

How Do Health Care Providers Diagnose Endometriosis?  

MedlinePLUS

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

388

How Do Health Care Providers Diagnose Hypoparathyroidism?  

MedlinePLUS

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

389

How Is Chronic Lymphocytic Leukemia Diagnosed?  

MedlinePLUS

... show many abnormal looking lymphocytes called smudge cells . Flow cytometry This test is important in diagnosing CLL. ... a computer into an image on a computer screen. Ultrasound can be used to look at lymph ...

390

How Is a Heart Murmur Diagnosed?  

MedlinePLUS

... Is a Heart Murmur Diagnosed? Doctors use a stethoscope to listen to heart sounds and hear heart ... your heart or your child's heart with a stethoscope to find out whether a murmur is innocent ...

391

How Is Peripheral Arterial Disease Diagnosed?  

MedlinePLUS

... page from the NHLBI on Twitter. How Is Peripheral Arterial Disease Diagnosed? Peripheral arterial disease (P.A. ... test, dye is injected through a needle or catheter (tube) into one of your arteries. This may ...

392

Diagnosis of carpal tunnel syndrome.  

PubMed

This clinical practice guideline was created to improve patient care by outlining the appropriate information-gathering and decision-making processes involved in managing the diagnosis of carpal tunnel syndrome. The methods used to develop this clinical practice guideline were designed to combat bias, enhance transparency, and promote reproducibility. The guideline's recommendations are as follows: The physician should obtain an accurate patient history. The physician should perform a physical examination of the patient that may include personal characteristics as well as performing a sensory examination, manual muscle testing of the upper extremity, and provocative and/or discriminatory tests for alternative diagnoses. The physician may obtain electrodiagnostic tests to differentiate among diagnoses. This may be done in the presence of thenar atrophy and/or persistent numbness. The physician should obtain electrodiagnostic tests when clinical and/or provocative tests are positive and surgical management is being considered. If the physician orders electrodiagnostic tests, the testing protocol should follow the American Academy of Neurology/American Association of Neuromuscular and Electrodiagnostic Medicine/American Academy of Physical Medicine and Rehabilitation guidelines for diagnosis of carpal tunnel syndrome. In addition, the physician should not routinely evaluate patients suspected of having carpal tunnel syndrome with new technology, such as magnetic resonance imaging, computed tomography, and pressure-specified sensorimotor devices in the wrist and hand. This decision was based on an additional nonsystematic literature review following the face-to-face meeting of the work group. PMID:19474448

Keith, Michael Warren; Masear, Victoria; Chung, Kevin; Maupin, Kent; Andary, Michael; Amadio, Peter C; Barth, Richard W; Watters, William C; Goldberg, Michael J; Haralson, Robert H; Turkelson, Charles M; Wies, Janet L

2009-06-01

393

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

PubMed

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

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

2015-03-01

394

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. PMID:23248357

Lev-Tov, Hadar; Maibach, Howard I

2012-01-01

395

The sensitive skin syndrome.  

PubMed

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. PMID:23248357

Lev-Tov, Hadar; Maibach, Howard I

2012-11-01

396

Snapping pes anserine syndrome.  

PubMed

The patient was a 25-year-old man who was serving in the military. He was referred to a physical therapist for a progressively worsening painful snapping sensation in the posteromedial left knee region. Prior magnetic resonance imaging for the left knee was interpreted as normal, except for a mild fluid signal about the left pes anserine bursa. The patient was diagnosed with snapping pes anserine syndrome. However, despite 6 weeks of physical therapist intervention, the patient did not improve. A dynamic real-time ultrasound examination was then ordered, which demonstrated that the pes anserine tendons changed position as the knee moved from flexion to extension, sliding across a heterogeneous rounded mass in the posteromedial knee. PMID:24380407

Rainey, Charles E; Taysom, Danielle A; Rosenthal, Michael D

2014-01-01

397

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. PMID:3276378

Collins, S M

1988-01-01

398

Nephrotic Syndrome  

MedlinePLUS

... syndrome comes back after going away. In that case, treatment would begin again until the child outgrows the condition or it improves on its own. Reviewed by: Robert S. ... Reflux (VUR) Your Urinary System Your Kidneys ...

399

Klinefelter Syndrome  

MedlinePLUS

... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... can affect things like penis and testicle growth. Boys with Klinefelter syndrome may also have problems with ...

400

Cushing Syndrome  

MedlinePLUS

... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: ... mutation linked to severe form of Cushing’s syndrome Two copies of mutant gene may trigger rare ...

401

Behcet's Syndrome  

MedlinePLUS

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

402

Cushing's Syndrome  

MedlinePLUS

... cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, ... can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper ...

403

Fahr's Syndrome  

MedlinePLUS

... Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like ... a CT scan could be negative in a gene carrier who is younger than the age of ...

404

Caplan syndrome  

MedlinePLUS

... 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. ...

405

Aicardi syndrome  

MedlinePLUS

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

406

Down Syndrome  

MedlinePLUS

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

407

Asperger syndrome  

MedlinePLUS

... is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat ... syndrome is a pervasive developmental disorder (PDD) or autism spectrum disorder (ASD). The main difference between Asperger ...

408

Asperger Syndrome  

MedlinePLUS

... AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group ... of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental ...

409

Hurler syndrome  

MedlinePLUS

Enzyme replacement therapy for Hurler syndrome adds a working form of the missing enzyme to the body. The medication, called laronidase (Aldurazyme), is given through a vein (intravenously). Talk to your ...

410

Usher Syndrome  

MedlinePLUS

... the loss of hearing and vision. Top Is genetic testing for Usher syndrome available? So far, 11 genetic ... usually performed through hearing, balance, and vision tests. Genetic testing for a few of the identified genes is ...

411

Premenstrual syndrome  

MedlinePLUS

... feeling gassy Breast tenderness Clumsiness Constipation or diarrhea Food cravings Headache Less tolerance for noises and lights ... Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and premenstrual ...

412

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

ERIC Educational Resources Information Center

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

Richardson, Lolita Lisa

2010-01-01

413

[Netherton syndrome].  

PubMed

Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome. PMID:16956571

Serra-Guillén, Carlos; Torrelo, Antonio; Drake, Marta; Armesto, Susana; Fernández-Llaca, Héctor; Zambrano, Antonio

2006-06-01

414

Hyperventilation syndrome  

Microsoft Academic Search

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

Richard E. Brashear

1983-01-01

415

Alagille syndrome.  

PubMed Central

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

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

1997-01-01

416

[Diencephalic syndrome].  

PubMed

Diencephalic structures are thalamus, hypothalamus, epithalamus, subthalamus and hypophysis. Diencephalic structures injury lead to several syndromes: diencephalic dysthermia, hypothalamic obesity, pediatric diencephalic syndrome, Cushing's disease, etc. Diencephalic syndrome manifests in 15-33% of patients with TBI. The goal of our study was to describe diencepalic syndrome in patients in neurointensive care unit. 76 patients took part in the study, 43 women and 33 men among them. The age of patients ranged from 19 to 77 years. All patients had consciousness disorders (CD) and dysnatremia. The patients were divided into 6 groups according to the number of somatic organ dysfunctions (SOD). 12 patients had only dysnatremia and CD without SOD (91.7% of them with benign outcome; 7.3% of them with poor outcome (GOS-3)). 11 patients in the second group had CD, dysnatremia and 1 SOD (45.5% of them had benign outcome; 54.5%--poor outcome). In the third group patients had 2 SOD (42% of them had poor outcome (GOS-3) and 33%--lethal outcome (GOS-1)). The worst outcome was in the 6th group, where patients had 5 SOD. All the patients in that group died. So, in patients with neurosurgical pathology in chiasmal area dienchephalic syndrome manifests by combination of CD, dysnatremia and at least 1 SOD. The number of SOD determines the outcome and severity of diencephalic syndrome. PMID:23082645

2012-01-01

417

FAILURE OF A MONOTHERAPY STRATEGY FOR DIFFICULT CHRONIC PROSTATITIS\\/CHRONIC PELVIC PAIN SYNDROME  

Microsoft Academic Search

Purpose:We determined the effect of a best evidence based monotherapeutic strategy for patients diagnosed with chronic prostatitis\\/chronic pelvic pain syndrome (CP\\/CPPS) referred to a specialized prostatitis clinic.

J. CURTIS NICKEL; JOE DOWNEY; DALE ARDERN; JANET CLARK; KYLE NICKEL

2004-01-01

418

Ultrasonography of subcoracoid bursal impingement syndrome.  

PubMed

Subcoracoid impingement syndrome with bursitis is an underrecognized cause of anterior shoulder pain. It usually presents with pain around the coracoid process and a positive impingement test with shoulder adduction, forward flexion, and internal rotation. The pain is mediated by impingement of soft tissues such as the subcoracoid bursa or subscapularis tendon between the coracoid process and humerus. Ultrasonography (US) can be useful in the evaluation of subcoracoid bursal impingement syndrome because of its high resolution capacity and the use of dynamic maneuvers. In this case series, we present 3 patients with subcoracoid impingement syndrome with bursitis diagnosed with in-office US. This case series illustrates the application of US in the evaluation of anterior shoulder pain with subcoracoid bursal impingement syndrome. PMID:25289838

Drakes, Shane; Thomas, Sunil; Kim, Sooyeon; Guerrero, Luis; Lee, Se Won

2015-03-01

419

Polycystic ovary syndrome: challenges in adolescence.  

PubMed

Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women of reproductive age. PCOS typically develops during adolescence and is a heterogeneous syndrome classically characterized by features of anovulation combined with signs of androgen excess (hirsutism, acne). Increasing obesity in adolescents probably exacerbates signs of PCOS, contributing to its earlier recognition. Recognizing the features of this syndrome can be very challenging in adolescence. Although adolescents' concerns are often cosmetic, if left untreated these girls are at risk for diabetes, metabolic syndrome, and infertility as they mature. Efforts should be made to diagnose and treat PCOS to minimize the development of symptoms and prevent the onset of cardiovascular and metabolic disturbances. PMID:20708160

Oliveira, Ana; Sampaio, Bernarda; Teixeira, Ana; Castro-Correia, Cíntia; Fontoura, Manuel; Luís Medina, José

2010-01-01

420

Chronic Fatigue Syndrome  

MedlinePLUS

... she had chronic fatigue syndrome. What Is Chronic Fatigue Syndrome? Chronic fatigue syndrome (CFS) is a complicated disease for doctors ... this and CFS. Continue Who Gets CFS? Chronic fatigue syndrome can affect people of all ages and ...

421

Williams Syndrome: Neuroimaging,  

E-print Network

Williams Syndrome: Genetics, Neuroimaging, Cognition, and Clinical Issues Williams Syndrome Conference on Williams Syndrome Proceedings of the 12 International Professional Conference on Williams by: The Williams Syndrome Association and Hosted by: The Salk Institute Orange County, CA July 13

422

Tethered Spinal Cord Syndrome  

MedlinePLUS

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

423

Central Pain Syndrome  

MedlinePLUS

NINDS Central Pain Syndrome Information Page Table of Contents (click to jump to sections) What is Central Pain Syndrome? Is there ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

424

Craniofacial Syndrome Descriptions  

MedlinePLUS

... rapidly growing endothel or vascular cells. Hemifacial Microsomia/Goldenhar syndrome Microtia/Atresia CCA's A Guide to Understanding ... palsy • Fibrous dysplasia • Frontonasal dysplasia • Hemangioma • Hemifacial Microsomia / Goldenhar syndrome • Microtia/Atresia • Miller syndrome • Moebius syndrome • Nager ...

425

Down Syndrome (For Parents)  

MedlinePLUS

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

426

Hyperimmunoglobulin E syndrome  

MedlinePLUS

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

427

Tics and Tourette Syndrome  

MedlinePLUS

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

428

Androgen insensitivity syndrome  

MedlinePLUS

... of the penis Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... HM, Schlomo M, Polansky KS, Larsen PR, eds. Williams Textbook of Endocrinology . 11th ed. St. Louis, Mo: ...

429

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. PMID:23634949

2013-01-01

430

Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome  

PubMed Central

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

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

2015-01-01

431

Surface EMG signal alterations in Carpal Tunnel syndrome: a pilot study  

Microsoft Academic Search

Carpal Tunnel syndrome (CTS) is one of the most common compartmental syndromes and nerve conduction studies are widely considered\\u000a as the standard to diagnose the pathology. The purpose of this pilot study was to investigate whether multichannel surface\\u000a electromyography can detect muscle alterations in patients diagnosed with severe CTS. Surface EMG signals were recorded at\\u000a 10, 20, 30, and 80%

A. Rainoldi; M. Gazzoni; R. Casale

2008-01-01

432

Hyperventilation and exhaustion syndrome  

PubMed Central

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

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

2014-01-01

433

The trisomy 18 syndrome  

PubMed Central

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. PMID:23088440

2012-01-01

434

Hamartomatous polyposis syndromes  

Microsoft Academic Search

The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract. These syndromes include juvenile polyposis syndrome, Peutz–Jeghers syndrome and the PTEN hamartoma tumor syndrome. The frequency and location of the polyps vary considerably among syndromes, as does the affected patient's predisposition to the

Kevin M Zbuk; Charis Eng

2007-01-01

435

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

PubMed Central

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

Barnum, Richard

2014-01-01

436

Association of Adrenocortical Carcinoma with Familial Cancer Susceptibility Syndromes  

PubMed Central

Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost exclusively stems from experiences with familial cancer susceptibility syndromes, which are caused by single gene mutations (e.g. Li-Fraumeni syndrome (LFS)). Population-based studies are largely unavailable. ACC diagnosed during childhood is known to be commonly part of hereditary cancer syndromes. Childhood ACC is part of the classical tumor spectrum of LFS and Beckwith-Wiedemann syndrome (BWS). In adults ACC has been reported in patients with multiple endocrine neoplasia (MEN1), familial adenomatous polyposis coli (FAP) and neurofibromatosis type 1 (NF1). However, the evidence associating ACC with these syndromes is less well substantiated. Here, we will review the evidence for genetic predisposition in general and the association with known familial cancer susceptibility syndromes in particular. We will also review current recommendations regarding screening and surveillance of these patients as they apply to a specialized ACC or endocrine cancer clinic. PMID:22209747

Else, Tobias

2012-01-01

437

Cotard's syndrome and delayed diagnosis in Kashmir, India  

PubMed Central

Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric problems in primary care physicians resulting in undue suffering, loss of precious time and resources for the patient. Besides highlighting the rare combination of pregnancy and Cotard's syndrome this report delineates the difficulties faced by patients with such symptoms in a low resource setting. PMID:18271948

Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

2008-01-01

438

Fisher syndrome with taste impairment.  

PubMed

A 60-year-old woman was admitted to our hospital with a two day history of truncal ataxia and diplopia. Three days after admission, complete paresis of eye movements, left ptosis, taste impairment and absence of deep tendon reflexes appeared. The patient displayed normal facial movements; however, she reported decreased sensations of sweet and salty tastes. Anti-GQ1b antibodies were detected in the serum, and Fisher syndrome was therefore diagnosed. Intravenous immunoglobulin was administered starting five days after admission, with limitations of eye movements, areflexia and taste impairment showing improvements by 12 days after onset. Taste disturbance is rare in patients with Fisher syndrome. In this case, we hypothesize that autoantibodies may have targeted antigens in the chorda tympani, glossopharyngeal nerve or taste buds. PMID:23064580

Ohe, Yasuko; Shintani, Daisuke; Kato, Yuji; Tanahashi, Norio

2012-01-01

439

[De Sanctis-Cacchione syndrome].  

PubMed

We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas, some showing clinical atypia, which increased in number over time. Molecular biology studies detected an alteration in DNA repair ability, so xeroderma pigmentosum was diagnosed. Shortly after birth, low weight, microcephaly and psychomotor retardation had been observed, but the cause was not established. The patient progressively showed neurological disorders that included perceptive deafness, hyporeflexia and areflexia, as well as choreoathetotic movements. Therefore, we felt that the patient's symptoms fit De Sanctis-Cacchione syndrome. PMID:16476302

Rosón, Elena; García-Doval, Ignacio; de la Torre, Carlos; Feal, Carlos; Cruces, Manuel

2005-11-01

440

Farmer-observed health data around calving-Genetic parameters and association with veterinarian diagnoses in Austrian Fleckvieh cows.  

PubMed

The objective of this study was to investigate if farmer-observed health data around calving can be used together with veterinarian diagnoses for genetic evaluations. Four diseases are recorded by farmers: retained placenta, downer cow syndrome, mastitis, and lameness. Mean disease frequencies were 4.7, 3.8, and 1.8% for retained placenta, downer cow syndrome, and mastitis, respectively. Lameness had a very low frequency (0.7%) and a preliminary analysis revealed a heritability close to zero for this trait. Therefore, lameness was not considered in the analysis. For genetic analyses, univariate and bivariate linear animal models were fitted. Heritabilities for retained placenta, downer cow syndrome, and mastitis were 0.01, 0.03, and 0.003, respectively. Genetic correlations among the investigated disease traits were low to moderate and not significantly different from zero. Pearson correlations between estimated breeding values for disease traits and other routinely evaluated traits were computed, which revealed mostly favorable relationships to fertility, maternal calving ease, muscling, and longevity. In addition, a moderate favorable association was found between mastitis and somatic cell score. Heritability estimates of farmer-observed health traits were comparable to estimates based on veterinarian diagnoses. Genetic correlations between the investigated diseases based on farmer observations and veterinarian diagnoses were almost 1, with estimates ranging from 0.98 to 0.99. These results suggest that farmer recorded health data could be used together with veterinarian diagnoses for genetic evaluations. PMID:25648813

Koeck, A; Fuerst, C; Egger-Danner, C

2015-04-01

441

Eye Development Genes and Known Syndromes  

PubMed Central

Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6. PMID:22005280

Slavotinek, Anne M.

2011-01-01

442

[Cryopyrin-associated periodic syndrome].  

PubMed

The cryopyrin-associated periodic syndrome is a very rare disease. It is estimated that there are 1-2 cases out of 1 million inhabitants in the USA and 1/360,000 in France. However, many patients are diagnosed very late or not at all. Therefore the real prevalence is likely to be higher. CAPS encompasses the three entities familial cold autoinflammatory syndrome (FCAS), the Muckle-Wells syndrome and the neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome. They have in common a causative mutation in the NLRP3-gene. The altered gene product cryopyrin leads to activation of the inflammasome which in turn is responsible for excessive production of IL-1?. IL-1? causes the inflammatory manifestations in CAPS. These appear as systemic inflammation including fever, headache or fatigue, rash, eye disease, progressive sensorineural hearing loss, musculoskeletal manifestations and CNS symptoms (NOMID/CINCA only). With the advent of the IL-1 inhibitors anakinra, rilonacept and canakinumab for the first time safe and effective therapeutic options are available for this devastating disease. To prevent severe and possible life-threatening disease sequelae, early and correct diagnosis and immediate initiation of therapy are mandatory. PMID:22527214

Kümmerle-Deschner, J B

2012-04-01

443

Case report on SHORT syndrome.  

PubMed

The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal Hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome. PMID:10457859

Joo, S H; Raygada, M; Gibney, S; Farzaneh, I; Rennert, O M

1999-07-01

444

The ICD diagnoses of fetishism and sadomasochism.  

PubMed

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

2006-01-01

445

Improving Multiple Fault Diagnosability using Possible Conflicts  

NASA Technical Reports Server (NTRS)

Multiple fault diagnosis is a difficult problem for dynamic systems. Due to fault masking, compensation, and relative time of fault occurrence, multiple faults can manifest in many different ways as observable fault signature sequences. This decreases diagnosability of multiple faults, and therefore leads to a loss in effectiveness of the fault isolation step. We develop a qualitative, event-based, multiple fault isolation framework, and derive several notions of multiple fault diagnosability. We show that using Possible Conflicts, a model decomposition technique that decouples faults from residuals, we can significantly improve the diagnosability of multiple faults compared to an approach using a single global model. We demonstrate these concepts and provide results using a multi-tank system as a case study.

Daigle, Matthew J.; Bregon, Anibal; Biswas, Gautam; Koutsoukos, Xenofon; Pulido, Belarmino

2012-01-01

446

Budd–Chiari Syndrome Following Laparoscopic Cholecystectomy  

PubMed Central

Patients with thrombophilic disorder while undergoing intra-abdominal surgery may develop splanchnic vein thrombosis which can have dire consequences. Here we report a case of a 38-year-old female who developed acute Budd–Chiari syndrome after a laparoscopic cholecystectomy. She had polycythemia vera which was not diagnosed before surgery. In this report we want to highlight presurgical evaluation of routine biochemical tests and ultrasonography suggestive of myeloproliferative disorders were missed which led to the Budd–Chiari syndrome. We recommend a meticulous look at the routine evaluation done prior to cholecystectomy is essential.

Amarapurkar, Pooja D.; Parekh, Sunil J.; Sundeep, Punamiya; Amarapurkar, Deepak N.

2013-01-01

447

Celiprolol-induced lupus-like syndrome.  

PubMed

Systemic lupus erythematosus can be idiopathic or drug-induced. Although a number of beta-blockers have been reported to induce a lupus-like syndrome, to the best of our knowledge, no such case has been described following celiprolol therapy. We diagnosed a lupus-like syndrome in a 67-year-old female patient who developed febrile polyarthritis, percarditis, antinuclear and anti-histone antibodies after taking celiprolol for 2 years. Despite drug withdrawal, prolonged corticotherapy was needed to obtain clinical and biological remission. PMID:17205925

Charniot, Jean-Christophe; Genereau, Thierry; Mouthon, Luc

2006-12-01

448

Sotos syndrome: An interesting disorder with gigantism  

PubMed Central

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. PMID:19893668

Nalini, A.; Biswas, Arundhati

2008-01-01

449

Gordon syndrome: literature review and a report of two cases.  

PubMed

The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and talipes equinovarus. We report two exceptional cases of GS where both patients were also diagnosed with congenital myopathy, and one developed malignant hyperthermia. These are the first two cases reported where patients were diagnosed with both GS and congenital myopathy or where GS is associated with malignant hyperthermia. PMID:24878349

Botha, Sarel J P; Bütow, Kurt-W

2015-01-01

450

Compartment syndromes  

NASA Technical Reports Server (NTRS)

The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

1989-01-01

451

Cardiorenal syndromes  

PubMed Central

Cardiorenal syndromes (CRS) have been subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. Both blood and urine biomarkers are reviewed in this paper and offer a considerable opportunity to enhance the understanding of the pathophysiology and known epidemiology of these recently defined syndromes. PMID:21286212

McCullough, Peter A; Ahmad, Aftab

2011-01-01

452

Crush syndrome.  

PubMed

The assessment, management, and treatment of the entrapped victim are critical skills needed to ensure a successful outcome. Individuals have been trapped in the "rubble" for even short periods of time only to succumb to predictable consequences of muscle compression injury. The clinician should be prepared to address issues of crush syndrome (including compartment syndrome) proactively and aggressively. The history of this disease is clear and well documented both in the military literature and in the earthquake rescue reviews. The key to management is managing and predicting clinical conditions before they present themselves. The potential exists in the urban environment (with the potential of building collapses) to have patients with crush syndrome that far exceed local medical capabilities should be part of modern disaster planning. This article reviews the various body systems and presents management and assessment strategies for the clinician. PMID:15640677

Gonzalez, Dario

2005-01-01

453

Flammer syndrome  

PubMed Central

The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

2014-01-01

454

Adolescent with Tourette Syndrome and Bipolar Disorder: A Case Report  

PubMed Central

Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

Kwon, Young-Joon

2014-01-01

455

Adolescent with tourette syndrome and bipolar disorder: a case report.  

PubMed

Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue. PMID:25598829

Shim, Se-Hoon; Kwon, Young-Joon

2014-12-01

456

Stewart-Bluefarb syndrome: a case report with angiographic findings.  

PubMed

Acroangiodermatitis is a group of benign, angioproliferative cutaneous disease caused by chronic venous insufficiency, acquired or congenital arteriovenous shunts and limb paralysis. Stewart-Bluefarb syndrome is the type of acroangiodermatitis which is associated with a congenital arteriovenous malformation. This is a rare syndrome characterized by cutaneous kaposiform lesions that usually onset at the second decade. In this report, a case of acroangiodermatitis associated with a congenital arteriovenous malformation, which has been diagnosed after 40 years, is described. PMID:19583690

Turk, Bengu Gerceker; Turk, Ugur Onsel; Alioglu, Emin; Akalin, Taner; Dereli, Tugrul

2009-07-01

457

Bilateral Swyer-James (Macleod’s) syndrome  

Microsoft Academic Search

Swyer James syndrome (SJS) is a rare disorder. It is generally discovered on a chest radiograph as increased translucency\\u000a involving one hemithorax with diminished vascular markings. We present a 5-year-old girl admitted for the treatment of recurrent\\u000a bronchiolitis. She was diagnosed as having Swyer James syndrome from the results of CT scan and ventilation perfusion scintigraphy,\\u000a which revealed unsuspected bilateral

Çitak Funda Erkasar; Çitak Elvan Çaglar; Demirel Koray; Karabacak Nese Ilgin

2002-01-01

458

An unusual otological manifestation of Usher's syndrome in four siblings.  

PubMed

A family in which four out of ten siblings affected by Usher's syndrome, with progressive hearing loss, is described. Two of the siblings had hearing loss while of school age, but two others first exhibited otological symptoms in their thirties. One of the siblings had retinitis pigmentosa, diagnosed before the hearing impairment became evident. The family seems to exhibit type III Usher's syndrome with unusual manifestations. PMID:6641004

Karjalainen, S; Teräsvirta, M; Kärjä, J; Kääriäinen, H

1983-10-01

459

Microdeletion syndromes.  

PubMed

The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability. The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes. PMID:23664828

Carvill, Gemma L; Mefford, Heather C

2013-06-01

460

Validation of the Children's Interview for Psychiatric Syndromes (ChIPS) with Psychiatrically Hospitalized Adolescents  

ERIC Educational Resources Information Center

A study was conducted to examine the concurrent validity of the Children's Interview for Psychiatric Syndromes (ChIPS) for adolescent inpatients aged 12 to 18. The results reveal moderate agreement between ChIPS diagnoses and Schedule for Affective Disorder sand Schizophrenia for School-Age Children-Present and Lifetime version diagnoses.

Swenson, Lance P.; Esposito-Smythers, Christianne; Hunt, Jeffrey I.; Hollander, Beth L. G.; Dyl, Jennifer; Rizzo, Christie J.; Steinley, Douglas L.; Spirito, Anthony

2007-01-01

461

Nonlethal multiple pterygium syndrome: Escobar syndrome.  

PubMed

Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis. The etiologies from maternal causes were excluded prior to birth. Subsequent workup after birth led to a highly suspected diagnosis of nonlethal Escobar by the geneticist. The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge. The infant demonstrated contractures and bilateral hip subluxation but was feeding well and was discharged home with outpatient follow-up. Treatment after discharge has been extensive secondary to difficulties associated with this disease. The clinical presentation of nonlethal Escobar, as well as diagnosis and treatment strategies, is provided with caregiving strategies. PMID:24472885

Bissinger, Robin L; Koch, Frances R

2014-02-01

462

CP or not CP? A review of diagnoses in a cerebral palsy register.  

PubMed

The purpose of this study was to document the inaccuracy rate of diagnosis of cerebral palsy recorded on the South Australian Cerebral Palsy Register. A total of 402 children born in South Australia from 1993 to 2002 and notified to the Register as having cerebral palsy were identified through the Register database, and 21 children (5.2%) were later identified to have a noncerebral palsy diagnosis. Of these, 5 had either a metabolic or a neurodegenerative disorder and 2 had a syndromic disorder (1 Joubert syndrome and 1 Sotos syndrome); the remaining 14 children had one of the following final diagnoses: developmental delay, gross motor delay, perinatal myositis, spinal subdural and subarachnoid arteriovenous malformation, and Erb's palsy. In 16 of 21 children (76%), the diagnosis was changed at 5 years of age or older. Studies based on population registers may need to take into account the possibility of misclassification, estimated to be at least 5.2% in this study. A complete clinical assessment at the time of diagnosis followed by regular reassessment would enable the clinician to exclude children with alternative diagnoses, which has important implications for clinical management and research based on cerebral palsy registers. PMID:20159426

Zarrinkalam, Rosa; Russo, Remo N; Gibson, Catherine S; van Essen, Phillipa; Peek, Ann K; Haan, Eric A

2010-03-01

463

Association between Fatigue and Autistic Symptoms in Children with Cri du Chat Syndrome  

ERIC Educational Resources Information Center

In the current study, the authors examined whether the fatigue level of children diagnosed with cri du chat syndrome was associated with the expression of autistic symptoms. Sixty-nine children with cri du chat syndrome were compared with 47 children with moderate to severe intellectual disabilities who did not differ on intellectual severity.…

Claro, Anthony; Cornish, Kim; Gruber, Reut

2011-01-01

464

Implementing Syndromic Surveillance: A Practical Guide Informed by the Early Experience  

Microsoft Academic Search

Syndromic surveillance refers to methods relying on detection of individual and population health indicators that are discernible before confirmed diagnoses are made. In particular, prior to the laboratory confirmation of an infectious disease, ill persons may exhibit behavioral patterns, symptoms, signs, or laboratory findings that can be tracked through a variety of data sources. Syndromic surveillance systems are being developed

Kenneth D Mandl; J Marc Overhage; Michael M Wagner; William B Lober; Paola Sebastiani; Farzad Mostashari; Julie A Pavlin; Per H Gesteland; Tracee Treadwell; Eileen Koski; Lori Hutwagner; David L Buckeridge; Raymond D Aller; Shaun Grannis

2004-01-01

465

IRRITABLE BOWEL SYNDROME (IBS) Approved by Patient Education Committee: 02/2012  

E-print Network

IRRITABLE BOWEL SYNDROME (IBS) Approved by Patient Education Committee: 02/2012 Revised 02/08/12 Page 1 of 3 OVERVIEW -- Irritable bowel syndrome (IBS) is a chronic condition of the digestive system no identifiable cause. IBS is the most commonly diagnosed gastrointestinal condition. Several treatments

466

Living with Lowe's Syndrome. A Guide for Families, Friends, and Professionals.  

ERIC Educational Resources Information Center

The document describes Lowe's syndrome, a hereditary condition that affects only males and is typically diagnosed during the first year of life. Effects of Lowe's syndrome on the eyes (cataracts, glaucoma, corneal degeneration, and strabismus) are discussed, as well as related problems with the central nervous system, muscles, kidneys, bones, and…

Lowe's Syndrome Association, Inc., West Lafayette, IN.

467

Modified criteria for the objective diagnosis of chronic compartment syndrome of the leg  

Microsoft Academic Search

One hundred fifty-nine patients were referred to the authors for evaluation of chronic exertional leg pain from 1978 to 1987. The records of 131 patients were complete and available for retrospective review. Forty- five patients were diagnosed as having a chronic com partment syndrome (CCS) and seventy-five patients had the syndrome ruled out by intramuscular pressure recordings. The only significant

Robert A. Pedowitz; Alan R. Hargens; Scott J. Mubarak; David H. Gershuni

1990-01-01

468

Referral Pattern and Special Interests in Children and Adolescents with Asperger Syndrome: A Turkish Referred Sample  

ERIC Educational Resources Information Center

Objectives: To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey. Methods: This study includes 61 children and adolescents diagnosed with Asperger syndrome using…

Tanidir, Canan; Mukaddes, Nahit M.

2014-01-01

469

Tourette Syndrome: A Collaborative Approach Focused on Empowering Students, Families and Teachers  

ERIC Educational Resources Information Center

Tourette syndrome (TS) is a neurobiological disorder marked by a wide range of involuntary motor and vocal movements and sounds called "tics" (American Psychiatric Association, APA, 2000). This syndrome is frequently misunderstood and difficult to diagnose (Chamberlain, 2003). Recent television shows featuring the topic of TS such as "The Oprah…

Christner, Beth; Dieker, Lisa A.

2008-01-01

470

Tardive or Atypical Tourette's Disorder in a Population with Down Syndrome?  

ERIC Educational Resources Information Center

In a population of 425 individuals with Down's syndrome, 5 persons (1.2%) were identified as having Tourette's disorder. The lack of interrelationship between Down's syndrome and Tourette's disorder argues against an atypical Tourette's disorder. Diagnoses of tardive Tourette's disorder were based on absence of family history of Tourette's, late…

Myers, Beverly; Pueschel, Siegfried M.

1995-01-01

471

Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome  

Microsoft Academic Search

A 12-year-old Japanese boy who underwent kidney transplantation with a kidney from his mother developed severe proteinuria immediately after the operation. Because his original disease was nephrotic syndrome (focal segmental glomerulosclerosis, or FSGS) and electron microscopic examination of the renal biopsy showed foot process fusion, we diagnosed this as a recurrence of nephrotic syndrome to the transplanted kidney. Four months

Kandai Nozu; Kazumoto Iijima; Masato Fujisawa; Atsuko Nakagawa; Norishige Yoshikawa; Masafumi Matsuo

2005-01-01

472

[Fatigue syndromes--an overview of terminology, definitions and classificatory concepts].  

PubMed

This article aims at giving a general view of fatigue syndromes, their description, and their differentiation. The syndromes neurasthenia, chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME), and burnout are discussed. First, the historical background of fatigue classification is shortly reviewed. Each syndrome is introduced in terms of definition and classification as well as differentiation from each other. The article discusses the differentiation of the syndromes from each other as well as differentiation of CFS/ME and burnout from depression. We conclude that it is difficult to differentiate criteria due to insufficient empirical evidence. More research is needed concerning integration of the diagnoses in classification systems as well as differentiation between syndromes. High comorbidity of depression with CFS and Burnout can be shown, but diagnoses also comprise distinct symptoms. PMID:23408301

Dörr, Johanna; Nater, Urs

2013-02-01

473

[Fetal Escobar syndrome--a case report].  

PubMed

The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal recessive disorder which may lead to many serious or even lethal fetal abnormalities. MPS is characterized by pterygia, arthrogryposis (joint contractures), and intrauterine growth restriction (IUGR). In the case described below, increased fetal nuchal translucency was the first abnormality diagnosed already in the first trimester of pregnancy. Other symptoms of the disease were found during the second trimester of pregnancy using ultrasonography examination. Also, genetic amniocentesis revealed no genetic disorders and the Escobar syndrome was diagnosed post mortem. Parental and maternal genetic examinations were performed and allowed for early prenatal diagnostics in the next pregnancy resulting in the birth of a healthy newborn. PMID:25219146

Olejniczak, Tomasz; Niepsuj-Binia?, Joanna; Rabiega-Gmyrek, Dorota; Guglas-Bochy?ska, Bogna; Opala, Tomasz

2014-08-01

474

Kabuki syndrome: diagnostic and treatment considerations.  

PubMed

Kabuki syndrome (KS) is a rare genetic disorder first diagnosed in 1981. Unknown by most primary care physicians and clinicians in the mental health fields, children with KS present with unique facial characteristics, mental retardation, health problems and socio-emotional delays that are often mistaken for other diagnostic problems. Literature detailing the psychological and psychosocial features of this disorder is scant, and psychotherapeutic approaches have not been described. In this article, we present a case description and treatment of a child with KS and her family. A brief review of KS is then provided, highlighting its signs and symptoms. Factors related to differential diagnoses are identified to aid primary care and mental health clinicians in better understanding this unique syndrome. Interventions with similar populations are discussed from which a psychological approach to KS is suggested. Finally, implications for primary care physicians are described and suggestions for further research indicated. PMID:23997823

Kasdon, Bethany D; Fox, Judith E

2012-09-01

475

Kabuki syndrome: diagnostic and treatment considerations  

PubMed Central

Kabuki syndrome (KS) is a rare genetic disorder first diagnosed in 1981. Unknown by most primary care physicians and clinicians in the mental health fields, children with KS present with unique facial characteristics, mental retardation, health problems and socio-emotional delays that are often mistaken for other diagnostic problems. Literature detailing the psychological and psychosocial features of this disorder is scant, and psychotherapeutic approaches have not been described. In this article, we present a case description and treatment of a child with KS and her family. A brief review of KS is then provided, highlighting its signs and symptoms. Factors related to differential diagnoses are identified to aid primary care and mental health clinicians in better understanding this unique syndrome. Interventions with similar populations are discussed from which a psychological approach to KS is suggested. Finally, implications for primary care physicians are described and suggestions for further research indicated. PMID:23997823

2012-01-01

476

Immunodiffusion test for diagnosing human pythiosis  

Microsoft Academic Search

An immunodiffusion test was developed for diagnosing subcutaneous and systemic pythiosis in humans. When culture filtrate antigen (CFA) from P. insidiosum was reacted against patient and rabbit antisera, 1–5 precipitin bands occured both in patient and rabbit antisera, and a line of identity also occured between patient and rabbit sera. When control P. insidiosum CFA was reacted with 30 apparently

P. Imwidthaya; S. Srimuang

1989-01-01

477

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

2004-01-01

478

NEURAL NETWORKS IN PSYCHOLOGY: CLASSICAL EXPLICIT DIAGNOSES  

E-print Network

NEURAL NETWORKS IN PSYCHOLOGY: CLASSICAL EXPLICIT DIAGNOSES M.G.Dorrer', A.N. Gorban2, V.I. Zenkin3. The purpose of this work is to employ trainable neural networks to start solving the problem facing to be reckoned with in adapting foreign techniques. Neural networks were successfully used for classical explicit

Gorban, Alexander N.

479

Diagnosing Diabetes and Learning about Prediabetes  

MedlinePLUS

... Prediabetes 100 mg/dl to 125 mg/dl Diabetes 126 mg/dl or higher Oral Glucose Tolerance Test (also called the OGTT) The OGTT is a ... tells the doctor how your body processes glucose. Diabetes is diagnosed at 2 hour blood glucose of ... Tolerance Test (OGTT) Normal less than 140 mg/dl Prediabetes ...

480

DIAGNOSING CAUSES OF IMPAIRMENT IN COASTAL ECOSYSTEMS  

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...

481

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.

2007-01-01

482

Leopard syndrome  

Microsoft Academic Search

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence

Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola

2008-01-01

483

Wells syndrome  

PubMed Central

Wells syndrome or eosinophilic cellulitis is characterized clinically by an acute dermatitis resembling cellulitis and histopathologically by dermal eosinophilic infiltration. Various morphological presentations have been described. We report a 32-year-old female with recurrent, erythematous plaques on left forearm of 8 months duration, associated with mild itching that resolved leaving mild hyperpigmentation. PMID:23189251

Bansal, Manish; Rai, Tulika; Pandey, Shyam S.

2012-01-01

484

Rett Syndrome.  

ERIC Educational Resources Information Center

This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

Culbert, Linda A.

485

[Metabolic syndrome].  

PubMed

The metabolic syndrome consists of a cluster of metabolic diseases which often coexist: abdominal obesity, glucoseintolerance, diabetes mellitus type II, dyslipidemia, hypertension and impaired fibrinolysis. The common pathophysiologic link of these diseases in insulin resistance. All clinical disorders of the metabolic syndrome are risk factors for the vascular system. Since several diseases are present at the same time the risk for atherosclerotic complications such as coronary artery disease and apoplexy is potentiated. As a consequence the costs for direct and indirect health care are high. Besides a genetic predisposition the metabolic syndrome is mainly caused by the typical life style in industrialized countries with high energy and fat intake, physical inactivity, alcohol consumption, smoking, and stress. Therefore, prophylaxis and therapy imply the removal of these factors. In order to be successful experienced physicians and motivated patients are prerequisites. Even more affective than therapy is prophylaxis which is, however, not established in Germany. The metabolic syndrome is up to now not identified as a major health problem neither by the medical profession nor by health insurances and politicians. An effective therapy and prophylaxis would induce far-reaching changes in our health system and diminish health costs. PMID:9082643

Wirth, A; Rothenfelde, B

1996-12-01

486

Premenstrual syndrome  

Microsoft Academic Search

Premenstrual syndrome (PMS) is a serious condition that is still poorly understood and accepted. It is a psychological and somatic disorder of unknown aetiology. It is quoted that 95% of women suffer from premenstrual symptoms and 5% of these suffer from PMS. Symptoms of PMS must arise in the luteal phase of a woman’s cycle, be relieved by menstruation, and

Serena Salamat; Khaled M. K. Ismail; Shaughn O’ Brien

2008-01-01

487

Alport Syndrome  

MedlinePLUS

... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

488

Metabolic Syndrome  

MedlinePLUS

... your waist Not all doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help you turn sugar from food into energy for your body. If you are insulin resistant, ...

489

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

2007-02-12

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