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1

Genetics Home Reference: Smith-Lemli-Opitz syndrome  

MedlinePLUS

... gov Research studies 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

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

3

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

Demirdoven, Mehmet; Yazgan, Hamza; Korkmaz, Mevlit; Gebesce, Arzu; Tonbul, Alparslan

2014-01-01

4

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

5

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive condition caused by cholesterol synthesis deficiency which results in a wide phenotypic spectrum which includes multiple malformations, distinctive facial appearance, and intellectual disability. This anthropometric and observational study was carried out to define the key facial characteristics of individuals with SLOS and to evaluate evolution of the facial phenotype with age. Clinical photographs were obtained on 51 subjects with SLOS and standardized facial anthropometry was performed on 42; the ages ranged from 6 months to 20 years. For each individual, 22 standardized cranial and facial measurements were obtained and compared to published age- and sex-matched controls. Craniofacial pattern profiles were compared between sexes, various age groups, plasma cholesterol concentration at the time of diagnosis, and physical severity score. Mean-Z, a measurement of overall facial size, and craniofacial variability index (CVI), a summary anthropometric measure of craniofacial deviation from the norm, were calculated and compared according to methods published previously. A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal ridge, anteverted nares, flat face, normal jaw width, and retrognathia. The facial measurements of subjects with SLOS had higher deviations from the norm with mean CVI of 2.11; SD = 0.47 (controls: Mean = 0.76, SD = 0.19; <0.0001) than age- and sex-matched controls. Their faces were also smaller than controls: 70% of subjects had mean-Z values 2 SD below the mean for controls; average Z-score was -1.64; SD = 0.85 (controls: mean = 0, SD = 0.64; <0.0001). There were no significant differences in the craniofacial pattern profile between the sexes or clinical severity as measured by either plasma cholesterol level at the time of diagnosis or the physical severity score. Patients with a lower weight at the time of assessment and patients with higher physical severity score had higher CVI measures (P < 0.001 and P < 0.002, respectively), suggesting that the degree of deviation from craniofacial norms is a function of the overall physical severity. PMID:22438180

Nowaczyk, Ma?gorzata J M; Tan, Mattea; Hamid, Jemila S; Allanson, Judith E

2012-05-01

6

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

7

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.; Szabo, G.P.; Torok, O.; Hadzsiev, K.; Csabi, G.; Balogh, L.; Dzsudzsak, E.; Ajzner, E.; Szabo, L.; Csakvary, V.; Olah, A.V.

2012-01-01

8

Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic  

Microsoft Academic Search

Summary  Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder. SLOS is caused by the mutations in the gene\\u000a for 3?-hydroxysterol ?7 reductase (DHCR7; EC 1.3.1.21), which maps to chromosome 11q12-13. DHCR7 catalyses the final step in cholesterol biosynthesis—the\\u000a reduction of 7-dehydrocholesterol to cholesterol. Clinical severity ranges from mild dysmorphism to severe congenital malformation\\u000a and intrauterine lethality. Pregnant women are offered

I. Blahakova; E. Makaturova; L. Kotrbova; M. Soukupova; J. Lastuvkova; L. Kozak

2007-01-01

9

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

PubMed

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

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

2014-09-01

10

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

PubMed Central

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.

2013-01-01

11

Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome  

Microsoft Academic Search

Objectives: To design a reliable model in the context of prenatal screening for assigning the risk in an individual pregnancy of Smith-Lemli-Opitz syndrome (SLOS) and assess its performance. Setting: A 2nd trimester screening programme for Down's syndrome that measures unconjugated estriol (uE3) along with other serum markers. Methods: Development of individual risk estimates with a trivariate model incorporating measurements of

G E Palomaki; L A Bradley; G J Knight; W Y Craig; J E Haddow

2002-01-01

12

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

PubMed Central

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

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

2013-01-01

13

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

PubMed Central

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

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

2013-01-01

14

Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome  

Microsoft Academic Search

Dehydrocholesterol accumulates in fetuses af- fected by the Smith-Lemli-Opitz syndrome as a result of a deficit in the ultimate step of cholesterol synthesis catalyzed by D 7 reductase. Rat embryos explanted at gestation day 10 and cultured for 48 h in the presence of the D 7 reductase inhibitor AY 9944 were used as a model to discriminate be- tween

Wassila Gaoua; Françoise Chevy; Charles Roux; Claude Wolf

15

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

PubMed Central

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

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

2013-01-01

16

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

SciTech Connect

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

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

1996-12-30

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

PubMed

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

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

2014-02-01

18

Normal Cognition and Behavior in a Smith-Lemli-Opitz Syndrome Patient Who Presented With Hirschsprung Disease  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol ?7-reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5-year-old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She was born at term following an uncomplicated pregnancy and delivery, and presented at 12 days of age with poor feeding, abdominal distention, and jaundice. Colonic biopsy was consistent with Hirschsprung disease. On physical examination she had mild ptosis, a long philtrum, mild micrognathia, a short, upturned nose, and subtle 2,3 syndactyly. Her 7-dehydrocholesterol (7-DHC) level was markedly elevated at 8.7 mg/dl (normal 0.10 ± 0.05), and her cholesterol level was normal at 61 mg/dl (normal for newborn period 50–80 mg/dl). Karyotype analysis was normal, 46,XX. Breast milk feeding was initiated and continued for 18 months. Cholesterol supplementation was implemented at 100 mg/kg/day at 3 months, which resulted in increased cholesterol levels and reduced dehydrocholesterol levels. Neuropsychological testing has shown functioning in the low average range, between the 14th and 18th centiles when compared to peers. This is markedly higher than most children with SLOS. She has no behavioral problems. MRI and MRS testing of the brain revealed no structural abnormalities. This is in contrast to a recently reported case by Prasad et al. [2002: Am J Med Genet 108:64–68] with a mild phenotype, behavioral problems, and abnormal MRI, who is compound heterozygote for both a null and missense mutation. Our case suggests that patients with severe feeding disorders with or without Hirschprung disease and postnatal onset microcephaly may warrant screening for SLOS. PMID:14556255

Mueller, C.; Patel, S.; Irons, M.; Antshel, K.; Salen, G.; Tint, G.S.; Bay, C.

2005-01-01

19

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol Delta7-reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5-year-old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She was born at term following an uncomplicated pregnancy and delivery, and presented at 12 days of age with poor feeding, abdominal distention, and jaundice. Colonic biopsy was consistent with Hirschsprung disease. On physical examination she had mild ptosis, a long philtrum, mild micrognathia, a short, upturned nose, and subtle 2,3 syndactyly. Her 7-dehydrocholesterol (7-DHC) level was markedly elevated at 8.7 mg/dl (normal 0.10 +/- 0.05), and her cholesterol level was normal at 61 mg/dl (normal for newborn period 50-80 mg/dl). Karyotype analysis was normal, 46,XX. Breast milk feeding was initiated and continued for 18 months. Cholesterol supplementation was implemented at 100 mg/kg/day at 3 months, which resulted in increased cholesterol levels and reduced dehydrocholesterol levels. Neuropsychological testing has shown functioning in the low average range, between the 14th and 18th centiles when compared to peers. This is markedly higher than most children with SLOS. She has no behavioral problems. MRI and MRS testing of the brain revealed no structural abnormalities. This is in contrast to a recently reported case by Prasad et al. [2002: Am J Med Genet 108:64-68] with a mild phenotype, behavioral problems, and abnormal MRI, who is compound heterozygote for both a null and missense mutation. Our case suggests that patients with severe feeding disorders with or without Hirschprung disease and postnatal onset microcephaly may warrant screening for SLOS. PMID:14556255

Mueller, C; Patel, S; Irons, M; Antshel, K; Salen, G; Tint, G S; Bay, C

2003-11-15

20

Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is a recessive disease typified by 7-dehydrocholesterol (7DHC) accumulation and depletion of cholesterol. Because cholesterol is a primary component of detergent-resistant membrane domains (“rafts”), we examined the compatibility of 7DHC with raft formation. Liposomes containing bovine brain phosphatidylcholine, sphingomyelin, cerebrosides, and either cholesterol, 7DHC, or coprostanol (the latter being incompatible with raft formation) were prepared. 7DHC was indistinguishable from cholesterol in its ability to become incorporated into membrane rafts, as judged by physical and chemical criteria, whereas coprostanol did not form rafts. The in vivo compatibility of 7DHC with raft formation was evaluated in brains of rats treated with trans-1,4-bis(2-dichlorobenzylamino-ethyl)cyclohexane dihydrochloride (AY9944), which mimics the SLOS biochemical defect. 7DHC/cholesterol ratios in rafts and whole brains from AY9944-treated rats were similar, indicating comparable efficiency of 7DHC and cholesterol incorporation into brain rafts. In contrast, dolichol (a nonsterol isoprenoid incompatible with raft formation) was greatly depleted in brain rafts relative to whole brain. Although brain raft fractions prepared from AY9944-treated and control rats yielded similar sterol-protein ratios, their gel electrophoresis profiles exhibited multiple differences, suggesting that altered raft sterol composition perturbs raft protein content. These results are discussed in the context of the SLOS phenotype, particularly with regard to the associated central nervous system defects. PMID:14594996

Keller, R. Kennedy; Arnold, Thomas P.; Fliesler, Steven J.

2010-01-01

21

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.

22

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.  

PubMed Central

Pallister-Hall syndrome (PHS) was originally described in 1980 in six sporadic cases of children with structural anomalies including hypothalamic hamartoma, polydactyly, imperforate anus, and renal and pulmonary anomalies. In 1993, the first familial cases were reported, including affected sibs and vertical transmission. Three of these families are sufficiently large to allow initial evaluation by linkage studies to candidate genes or loci. We have evaluated candidate loci for PHS based on three clinical observations. The first is a patient with PHS-like malformations, including a hypothalamic hamartoma, and an unbalanced translocation involving 7q and 3p. The second is a family with familial PHS where the founder's father had an autosomal dominant hand malformation previously mapped to 17q. The third is the phenotypic overlap of PHS and Smith-Lemli-Opitz syndrome. In this report, we exclude these loci as candidates for linkage to the PHS phenotype on the basis of lod scores of less than-2.0. We conclude that hypothalamic hamartoma is not specific to PHS and that the dominant hand malformation in one of the families was a coincidence. To evaluate the relationship of PHS to Smith-Lemli-Opitz syndrome, we analysed levels of cholesterol and intermediate metabolites of the later stages of cholesterol biosynthesis. There is no evidence of a generalised disorder of cholesterol biosynthesis in patients with familial PHS. On genetic and biochemical grounds, we conclude that PHS and Smith-Lemli-Opitz syndrome are not allelic variants of a single locus. PMID:8950676

Biesecker, L G; Kang, S; Schaffer, A A; Abbott, M; Kelley, R I; Allen, J C; Clericuzio, C; Grebe, T; Olney, A; Graham, J M

1996-01-01

23

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies.  

PubMed

The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 13 specimens the following multiple congenital anomalies (MCA) syndromes were diagnosed: acrofacial dysostosis, Apert syndrome, Brachmann-De Lange syndrome, ichthyosis congenita gravis, Jarcho-Levin syndrome, Meckel syndrome, oro-facio-digital syndrome type IV, Roberts syndrome, Smith-Lemli-Opitz syndrome, Treacher Collins syndrome, and trisomy 13. It appeared that the founders of the museum studied and described several of these syndromes many years before they became established as such. In some specimens a reliable diagnosis is still pending. The use of additional diagnostical techniques, such as MRI, CT scanning, and fluorescence in situ hybridization, in these specimens is currently being investigated. PMID:9605284

Oostra, R J; Baljet, B; Dijkstra, P F; Hennekam, R C

1998-05-01

24

75 FR 41501 - Government-Owned Inventions; Availability for Licensing  

Federal Register 2010, 2011, 2012, 2013

...in other diseases, such as autoimmune diseases (e.g., lupus...overcome resistance. Finally, autoimmune diseases known to be caused...Smith-Lemli-Opitz Syndrome and Other Disorders of Cholesterol Biosynthesis...Smith-Lemli-Opitz Syndrome and other disorders of cholesterol...

2010-07-16

25

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

PubMed Central

Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments. PMID:21272302

2011-01-01

26

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

27

7Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: Roles of NADPH oxidase, mitochondria, and lipid rafts  

Microsoft Academic Search

Long wavelength solar UVA radiation stimulates formation of reactive oxygen species (ROS) and prostaglandin E2 (PGE2), which are involved in skin photosensitivity and tumor promotion. High levels of 7-dehydrocholesterol (7-DHC), the precursor to cholesterol, cause exaggerated photosensitivity to UVA in patients with Smith-Lemli-Opitz syndrome (SLOS). Partially replacing cholesterol with 7-DHC in keratinocytes rapidly (<5 min) increased UVA-induced ROS, intracellular calcium, phospholipase

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

2006-01-01

28

Occipital condyle syndrome: self diagnosed  

PubMed Central

We present the case of a 71-year-old man who presented to us with unilateral lower motor neuron hypoglossal palsy along with the characteristic occipital headache. He himself forwarded a paper on occipital condyle syndrome to the clinician who initially reviewed him. Later the patient underwent a series of investigations that confirmed the diagnosis of underlying prostatic carcinoma with widespread metastasis to bones including the base of the skull. Seven months after the diagnosis he is doing well, his headache is much better and the tongue deviation is stable. He was initially treated with tapering doses of dexamethasone and is currently receiving the depo gonadorelin analogue leuprorelin. PMID:21686711

Saraswat, Manoj Kumar; Perera, Ranjit W; Renwick, Ian; Zuromskis, Tadas; Singh, Vijay; Jones, Edward

2009-01-01

29

Sipple's syndrome: A case diagnosed preoperatively  

Microsoft Academic Search

A case of familial Sipple's syndrome diagnosed preoperatively is presented. Clinically, thyroid carcinoma and its metastasis\\u000a to the cervical and upper mediastinal lymph nodes were first noticed. The diagnosis of medullary carcinoma was strongly suspected\\u000a on the physical and roentgenologic evidences unique to this variety of thyroid cancer. Clinically pheochromocytomas were asymptomatic,\\u000a but urinary catecholamine study revealed an increased epinephrine

Takao Obara; Yoshihide Fujimoto; Atsushi Oka; Masayuki Fukumitsu

1974-01-01

30

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

31

How to diagnose a lipodystrophy syndrome.  

PubMed

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

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

2012-06-01

32

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

33

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

PubMed Central

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

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

2010-01-01

34

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

E-print Network

intervention services to individuals diagnosed with autism, behavior and developmental disabilities. 2.1 HumanAnalysis of Speech Properties of Neurotypicals and Individuals Diagnosed with Autism and Down individuals diagnosed with autism and Down syndrome have difficulties producing intelligible speech

35

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

PubMed

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

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

2012-01-01

36

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

37

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 ...

38

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

39

Syndromic Surveillance Using Automated Collection of Computerized Discharge Diagnoses  

Microsoft Academic Search

ABSTRACT The Syndromic,Surveillance Information Collection (SSIC) system,aims,to facilitate early detection of bioterrorism attacks (with such agents as anthrax, brucello- sis, plague, Q fever, tularemia, smallpox, viral encephalitides, hemorrhagic fever, botu- lism toxins, staphylococcal enterotoxin B, etc.) and early detection of naturally occur- ring disease outbreaks, including large foodborne disease outbreaks, emerging infections, and pandemic,influenza. This is accomplished,using automated,data collection of

William B. Lober; Lisa J. Trigg; Bryant T. Karras; David Bliss; Jack Ciliberti; Laurie Stewart; Jeffrey S. Duchin

2003-01-01

40

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

41

Diagnosing carpal tunnel syndrome--clinical criteria and ancillary tests.  

PubMed

Damage to the median nerve within the carpal tunnel gives rise to carpal tunnel syndrome (CTS), which is associated with a wide spectrum of symptoms. The predominant classic symptoms are nocturnal pain of the hand, and sensory disturbances within the distribution of the median nerve, both of which are characteristically relieved by hand movements. Ancillary tests, including nerve conduction studies (NCS) and imaging techniques, are mainly indicated when the classic defining features are absent. NCS are less accurate in the early stages of CTS, and in younger patients. Imaging tests (ultrasound and MRI), while still having a lower diagnostic accuracy than NCS, are proving to be useful for explaining persistence of symptoms following surgical relief. Supplementary tests of small nerve fiber function and measurement of intracarpal pressure might, in the future, improve early recognition of CTS, especially in the absence of well-defined symptoms. PMID:16932587

Wilder-Smith, Einar P; Seet, Raymond C S; Lim, Erle C H

2006-07-01

42

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

PubMed Central

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

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

2010-01-01

43

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

44

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

45

Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups  

PubMed Central

Purpose Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. Materials and Methods From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for fetal anomalies were included. For fetuses that were diagnosed as having Klinefelter syndrome, the patients' medical records were retrospectively reviewed. Both parents' ages, the reason for the chromosomal studies, and karyotypes were investigated. Results We found that 22 of 18,049 (0.12%) fetuses were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 22 of 9,387 (0.23%). Also, 19 of the newborns (86.4%) showed a karyotype of 47,XXY; the other newborns showed karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[6]/45,X[1]/46,XY[95]. The mean age of the mothers was 36.1 years, and 2 women had a past history of a Down syndrome pregnancy. Nine mothers had a normal spontaneous delivery, 9 mothers underwent artificial abortion, and 2 fetuses were spontaneously aborted. Conclusions The incidence of Klinefelter syndrome as reported in this study is higher than in previous studies. Further studies with a broader population should be considered to confirm these results. PMID:23614065

Jo, Dae Gi; Lee, Joong Shik; Park, So Yeon; Kim, Jin Woo

2013-01-01

46

Asperger's syndrome and atypical eating disorder in a man with late diagnosed XYY syndrome  

Microsoft Academic Search

We report the case of a man with Asperger's syndrome and borderline intelligence, atypical eating disorder (food faddiness\\/refusal due to fear of choking) and XYY syndrome. We consider multi-modal management and inter-agency service provision issues in meeting his complex mental health and social needs.

Shaun Gravestock; Dinal Vekaria; Elaine Hurault

2007-01-01

47

Evaluation of a portable device for diagnosing the sleep apnoea\\/hypopnoea syndrome  

Microsoft Academic Search

Waiting times for hospital-based monitoring of the obstructive sleep apnoea\\/hypopnoea syndrome (OSAHS) are rising. This study tested whether Embletta, a new portable device, may accurately diagnose OSAHS at home. A synchronous comparison to polysomnography was performed in 40 patients and a comparison of home Embletta studies with in-laboratory polysomnography was performed in 61 patients. In the synchronous study, the mean

K. Dingli; E. L. Coleman; M. Vennelle; S. P. Finch; P. K. Wraith; T. W. Mackay; N. J. Douglas

2003-01-01

48

Extraocular muscle enlargement leading to the diagnoses of Burkitt lymphoma and acquired immune deficiency syndrome.  

PubMed

Orbital involvement in nonendemic Burkitt lymphoma is rare. The authors report a unique case of a patient who sought treatment for extraocular muscle enlargement without a concurrent orbital mass, which subsequently led to the diagnoses of Burkitt lymphoma and acquired immune deficiency syndrome in an adult patient. The case report adhered to the principles of the Declaration of Helsinki and Health Insurance Portability and Accountability Act compliance. This single case report was institutional review board exempt, given that it does not meet the definition of human subjects' research. PMID:23787959

Chin, Eric K; Granier, Alison; Hunter, Allan A; Dwyre, Denis M; Lin, Lily Koo

2013-01-01

49

Diagnosing the patient with abdominal pain and altered bowel habits: is it irritable bowel syndrome?  

PubMed

Diagnosing a patient who presents with abdominal pain and altered bowel habits can be challenging. Although serious organic illnesses can cause these symptoms, irritable bowel syndrome is commonly responsible. It can be difficult to properly evaluate these patients without overusing diagnostic tests and consultation. A practical approach for diagnosing irritable bowel syndrome is suggested, using the Rome II criteria and the presence of alarm symptoms such as weight loss, gastrointestinal bleeding, anemia, fever, or frequent nocturnal symptoms as starting points. If there are no alarm symptoms and the Rome II criteria are not met, it is acceptable to reevaluate the patient at a later date. If there are no alarm symptoms and the Rome II criteria are met, the patient should be categorized on the basis of age: patients 50 years or younger can be evaluated on the basis of predominant symptoms--constipation, diarrhea, or abdominal pain. Patients older than 50 years should be fully evaluated and considered for gastroenterology referral. If alarm symptoms are present, a full evaluation should be performed (and gastroenterology referral considered), regardless of the patient's age. PMID:12776965

Holten, Keith B; Wetherington, Anthony; Bankston, Laurie

2003-05-15

50

Superior Mesenteric Artery Syndrome Diagnosed with Linear Endoscopic Ultrasound (with Video) in a Patient with Normal Body Mass Index  

PubMed Central

Superior mesenteric artery (SMA) syndrome is an uncommon disease that results from SMA compression of the third portion of the duodenum. Patients with SMA syndrome present with upper gastrointestinal symptoms, such as nausea, vomiting, and abdominal pain. The diagnosis is usually made from an upper barium study or computed tomography. Typically, SMA syndrome is caused by a decreased aortomesenteric angle of 6° to 25°. An underweight body mass index (BMI) is a risk factor for development of SMA syndrome. There are few reports of the role of linear endoscopic ultrasound (EUS) in the diagnosis of SMA syndrome. We report a case of SMA syndrome, with normal BMI, that was diagnosed with the aid of linear EUS. Although SMA syndrome is not typically within the scope of practice of endosonographers, it is useful to get familiar with the findings. PMID:23964342

Wee, Jee Wan; Lee, Joon Seong; Kim, Wan Jung

2013-01-01

51

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

data from natural conversations between neuro-typicals and individuals diagnosed with autism1 Abstract Many individuals diagnosed with autism and Down syndrome have difficulties producing Properties of Neurotypicals and Individuals Diagnosed with Autism and Down Syndrome Mohammed Ehsan Hoque

52

Prognosis of short survival in patients with advanced dementia as diagnosed by aminoff suffering syndrome.  

PubMed

On the first few days after admission to the Geriatric-Internal Medicine department, the suffering level of patients with advanced dementia (Mini-Mental State Examination 0 of 30) was evaluated according to the Mini-Suffering State Examination (MSSE). During hospitalization, 14.8% (27 of 183) of patients with advanced dementia were died with a mean survival rate of 19.86 ± 26.9 days. The MSSE scale score of died patients was 7.56 ± 1.71 during the first few days of admission which indicates high suffering levels. The MSSE scale score of survived patients with advanced dementia was 3.99 ± 2.10 which confirms their low level of suffering. There was a significant difference (P < .001) between the groups. Patients with dementia who died and were diagnosed as having Aminoff suffering syndrome during the first few days of admission had a high suffering level and short-survival time. PMID:24939003

Aminoff, Bechor Zvi

2014-12-01

53

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

ERIC Educational Resources Information Center

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

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

2007-01-01

54

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

55

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

PubMed

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

Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

2011-06-01

56

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

57

Prevalence of Lynch Syndrome among Patients with Newly Diagnosed Endometrial Cancers  

PubMed Central

Background Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population. Methods Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed. Results One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques. Conclusion The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended. PMID:24244552

Egoavil, Cecilia; Alenda, Cristina; Castillejo, Adela; Paya, Artemio; Peiro, Gloria; Sánchez-Heras, Ana-Beatriz; Castillejo, Maria-Isabel; Rojas, Estefanía; Barberá, Víctor-Manuel; Cigüenza, Sonia; Lopez, Jose-Antonio; Piñero, Oscar; Román, Maria-Jose; Martínez-Escoriza, Juan-Carlos; Guarinos, Carla; Perez-Carbonell, Lucia; Aranda, Francisco-Ignacio; Soto, Jose-Luis

2013-01-01

58

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

PubMed

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

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

2014-11-01

59

Detection of Wolbachia DNA in Blood for Diagnosing Filaria-Associated Syndromes in Cats  

PubMed Central

A fundamental role for the endosymbiotic bacteria Wolbachia pipientis in the pathogenesis of Dirofilaria immitis infections has emerged in recent years. Diagnostic opportunities arising from this breakthrough have not yet been fully exploited. This study was aimed at developing conventional and real-time PCR assays to carry out a molecular survey in a convenience sample of cats living in an area where D. immitis is endemic and to evaluate the detection of bacterial DNA in blood as a surrogate assay for diagnosing filaria-associated syndromes in cats. COI and FtsZ loci were used as targets for D. immitis and Wolbachia PCR assays, respectively, and real-time TaqMan PCR assays were used only for Wolbachia. A convenience sample of 307 disease-affected or healthy cats examined at a University facility were PCR tested, and their medical records were investigated. Conventional nested PCR for Wolbachia amplified the endosymbionts of both D. immitis and D. repens, while real-time PCR was highly specific only for the former. Observed prevalences of 0.3 and 10.4% were found using conventional nested PCR assays for D. immitis and real-time PCR for Wolbachia, respectively. Similar prevalences were established using the Wolbachia nested PCR (98% concordance with real-time PCR). The group of Wolbachia-positive samples had a significantly higher proportion of subjects with respiratory signs (29.0% versus 9.7%; P = 0.002). The findings of this study indicate that a highly sensitive PCR assay can be used to detect the Wolbachia organism in the peripheral blood of cats with respiratory signs. PMID:22649020

Turba, Maria Elena; Zambon, Elisa; Zannoni, Augusta; Russo, Samanta

2012-01-01

60

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

61

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

PubMed Central

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

2009-01-01

62

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, Leticia da Silva; Alves, Ursula David; Zanier, Jose Fernando Cardona; Machado, Dequitier Carvalho; Camilo, Gustavo Bittencourt; Lopes, Agnaldo Jose

2014-01-01

63

Frailty syndrome diagnosed according to the Study of Osteoporotic Fractures criteria and mortality in older outpatients suffering from Alzheimer's disease: A one-year prospective cohort study  

Microsoft Academic Search

Objective: The frailty syndrome is associated with adverse clinical outcomes independently of cognitive impairment. The recent easy-to-apply Study of Osteoporotic Fractures (SOF) criteria for frailty could be useful to diagnose such syndrome also in Alzheimer's disease (AD) patients. The aim of this study was to apply these criteria among AD outpatients in order to determine: (i) the prevalence and correlates

Claudio Bilotta; Luigi Bergamaschini; Paola Nicolini; Alessandra Casè; Gloria Pina; Silvia Veronica Rossi; Carlo Vergani

2011-01-01

64

Frailty syndrome diagnosed according to the Study of Osteoporotic Fractures criteria and mortality in older outpatients suffering from Alzheimer's disease: A one-year prospective cohort study  

Microsoft Academic Search

Objective: The frailty syndrome is associated with adverse clinical outcomes independently of cognitive impairment. The recent easy-to-apply Study of Osteoporotic Fractures (SOF) criteria for frailty could be useful to diagnose such syndrome also in Alzheimer's disease (AD) patients. The aim of this study was to apply these criteria among AD outpatients in order to determine: (i) the prevalence and correlates

Claudio Bilotta; Luigi Bergamaschini; Paola Nicolini; Alessandra Casè; Gloria Pina; Silvia Veronica Rossi; Carlo Vergani

2012-01-01

65

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

Microsoft Academic Search

This study used receiver operating characteristic (ROC) methodology and discriminative analyses to examine the correspondence\\u000a of the Child Behavior Checklist (CBCL) rationally-derived DSM-oriented scales and empirically-derived syndrome scales with clinical diagnoses in a clinic-referred sample of children and\\u000a adolescents (N?=?476). Although results demonstrated that the CBCL Anxiety, Affective, Attention Deficit\\/Hyperactivity, Oppositional and\\u000a Conduct Problems DSM-oriented scales corresponded significantly with related

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

2010-01-01

66

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

Microsoft Academic Search

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

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

2007-01-01

67

Solitary osteochondroma of the distal radius: A rare cause of carpal tunnel syndrome diagnosed using ultrasound.  

PubMed

Carpal tunnel syndrome is the most common entrapment neuropathy in the upper extremity. A rare case of carpal tunnel syndrome due to solitary osteochondroma arising from the metaphysis of the distal radius is presented. Preoperative diagnosis was suspected by physical examination and high-resolution sonography and confirmed by radiographs. Surgical treatment consisted of extended open carpal tunnel release and excision of the tumor. © 2014 Wiley Periodicals, Inc. J Clin Ultrasound 42:557-559, 2014. PMID:24706541

Franz, Torsten; Leclère, Franck Marie; Rees, Marcel Gregor

2014-11-12

68

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

Microsoft Academic Search

Investigations of accidents in a number of hazardous domains suggest that a cluster of organisational pathologies—the “vulnerable system syndrome” (VSS)—render some systems more liable to adverse events. This syndrome has three interacting and self-perpetuating elements: blaming front line individuals, denying the existence of systemic error provoking weaknesses, and the blinkered pursuit of productive and financial indicators. VSS is present to

J T Reason; J Carthey; M R de Leval

2001-01-01

69

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

PubMed

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

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

2013-01-01

70

Toxicological evaluation of two children diagnosed as Munchausen syndrome by proxy.  

PubMed

Munchausen syndrome by proxy is a kind of child abuse in which affected children are often hospitalized for long periods and endure repetitive, painful and expensive diagnostic attempts. We present herein two toxicologically confirmed cases of Munchausen syndrome by proxy. Case 1 is a 16-month-old male who had fever, peripheral cyanosis, tremor, and reported cardiac arrest. Symptoms recurred in the hospital when the mother administered fluids. Toxicology detected 3.5 ng/ml mercury (Hg) in the fluid and 9.4 microg Hg/g creatinine in the urine. Case 2 is a 14-year-old female who had irregular blood findings and multiple hospitalizations. Serum analysis detected warfarin. Both mothers were transferred to psychiatric care. Munchausen syndrome by proxy should be suspected when clinical/laboratory findings are negative, illness descriptions are inconsistent, and frequent hospitalization yields no diagnosis. Psychiatric evaluation and toxicological analysis are recommended. PMID:23094539

Türkmen, Zeynep; Ziyalar, Neylan; Tari, Itir; Mercan, Selda; Kayiran, Sinan Mahir; Sener, Dicle; Cengiz, Salih; Akçakaya, Necla

2012-01-01

71

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

PubMed

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

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

1999-08-01

72

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.  

PubMed

Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and adenylosuccinase deficiency), genetic syndromes (e.g., Ritscher-Schinzel, Joubert, and CHARGE syndromes), and brain malformations (primary posterior fossa malformations e.g., Dandy-Walker malformation, pontine tegmental cap dysplasia and rhombencephalosynapsis, or global brain malformations such as tubulinopathies and ?-dystroglycanopathies). Secondary (disruptive) conditions include prenatal infections (e.g., cytomegalovirus), exposure to teratogens, and extreme prematurity. The distinction between malformations and disruptions is important for pathogenesis and genetic counseling. Neuroimaging provides key information to categorize CH based on the pattern of involvement: unilateral CH, CH with mainly vermis involvement, global CH with involvement of both vermis and hemispheres, and pontocerebellar hypoplasia. The category of CH, associated neuroimaging findings and clinical features may suggest a specific disorder or help plan further investigations and interpret their results. Over the past decade, advances in neuroimaging and genetic testing have greatly improved clinical diagnosis, diagnostic testing, recurrence risk counseling, and information about prognosis for patients and their families. In the next decade, these advances will be translated into deeper understanding of these disorders and more specific treatments. PMID:24839100

Poretti, Andrea; Boltshauser, Eugen; Doherty, Dan

2014-06-01

73

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

74

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

75

Nonophthalmologist accuracy in diagnosing retinal hemorrhages in the shaken baby syndrome  

Microsoft Academic Search

Nonophthalmologists did not attempt to (36%) or were “unable to” (19%) examine the fundus in 72 children with shaken baby syndrome. When the retina was examined, nonophthalmologists were accurate in recognizing the absence or presence of retinal hemorrhage in 87%. However, false-negative examinations occurred in 13%. Ophthalmology consultation should be an integral part of the evaluation of children with suspected

Yair Morad; Yuri M. Kim; Marcellina Mian; Dirk Huyer; Louise Capra; Alex V. Levin

2003-01-01

76

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

77

Salience and Context: Interpretation of Metaphorical and Literal Language by Young Adults Diagnosed with Asperger's Syndrome  

Microsoft Academic Search

Asperger's Syndrome (AS) involves difficulties in social communication but no delays in language or cognitive development. According to the received view, individuals with AS are biased toward the literal and are insensitive to contextual cues. According to the graded salience hypothesis (Giora, 1997, 2003), participants with AS and controls would be sensitive to both context and degree of salience rather

Rachel Giora; Oshrat Gazal; Idit Goldstein; Ofer Fein; Argyris Stringaris

2012-01-01

78

Churg-Strauss syndrome in a patient previously diagnosed with multiple sclerosis  

PubMed Central

A lady in her 70s with a background of multiple sclerosis (MS) and late-onset asthma was admitted with a 2-week history of cough and shortness of breath, progressive right-sided weakness and functional decline. Investigation revealed eosinophilia, elevated myeloperoxidase antineutrophil cytoplasmic antibody, CT sinuses showed long-standing inflammatory changes consistent with sinonasal polyposis and MRI head showed lesions consistent with vasculitis. She then developed left-sided weakness and increased wheeze. Review of her case notes demonstrated that, the eosinophilia was long-standing, her asthma was severe and steroid-dependent, and her neurologic syndrome was atypical for MS. Intravenous methylprednisolone then cyclophosphamide were administered. She demonstrated remarkable improvement, becoming more alert, with improvement in left-sided weakness. A diagnosis of Churg–Strauss syndrome was established. She was discharged to a nursing home with outpatient rheumatology follow-up. The diagnosis of MS was revisited. PMID:22679315

Sarkar, Pamela; Ibitoye, Richard Tolulope; Promnitz, Douglas Anthony

2011-01-01

79

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

80

Nonophthalmologist accuracy in diagnosing retinal hemorrhages in the shaken baby syndrome.  

PubMed

Nonophthalmologists did not attempt to (36%) or were "unable to" (19%) examine the fundus in 72 children with shaken baby syndrome. When the retina was examined, nonophthalmologists were accurate in recognizing the absence or presence of retinal hemorrhage in 87%. However, false-negative examinations occurred in 13%. Ophthalmology consultation should be an integral part of the evaluation of children with suspected abuse. PMID:12712063

Morad, Yair; Kim, Yuri M; Mian, Marcellina; Huyer, Dirk; Capra, Louise; Levin, Alex V

2003-04-01

81

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

PubMed Central

Background and Aims Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (?1-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (Progressive Familial Intrahepatic Cholestasis type 1/PFIC1), ABCB11 (PFIC2), and ABCB4 (PFIC3). However, the large gene sizes and lack of mutational hotspots make it difficult to survey for disease-causing mutations in clinical practice. Here, we aimed to develop a technological tool that reads out the nucleotide sequence of these genes rapidly and accurately. Methods 25-mer nucleotide probes were designed to identify each base for all exons, 10 bases of intronic sequence bordering exons, 280–500 bases upstream from the first exon for each gene, and 350 bases of the second intron of the JAG1 gene, and tiled using the Affymetrix resequencing platform. We then developed high-fidelity PCRs to produce amplicons using 1 ml of blood from each subject; amplicons were hybridized to the chip, and nucleotide calls were validated by standard capillary sequencing methods. Results Hybridization of amplicons with the chip produced a high nucleotide sequence readout for all five genes in a single assay, with an automated call rate of 93.5% (range: 90.3–95.7%). The accuracy of nucleotide calls was 99.99% when compared with capillary sequencing. Testing the chip on subjects with cholestatic syndromes identified disease-causing mutations in SERPINA1, JAG1, ATP8B1, ABCB11 or ABCB4. Conclusion The resequencing chip efficiently reads SERPINA1, JAG1, ATP8B1, ABCB11 and ABCB4 with a high call rate and accuracy in one assay, and identifies disease-causing mutations. PMID:17241866

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

2008-01-01

82

Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.  

PubMed

A 52-year-old man was found to have a severely dilated aortic root and a Stanford type A dissection on familial screening echocardiography, following diagnosis of a dilated aorta in his son. The dissection required urgent surgical repair. Clinical examination suggested features of Loeys-Dietz syndrome type II, and subsequent demonstration of a mutation in the TGFBR1 gene in the patient and his son confirmed the diagnosis. This article highlights the high prevalence of inherited conditions in dilated aortic root presentations and the importance of family screening and surveillance to allow early surgical intervention. PMID:24495977

Martin, Claire A; Clowes, Virginia E; Cooper, John P

2014-01-01

83

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

PubMed

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 who published the first case reports and coined the term FAS. However, the nature of the diagnosis and its salient symptoms were determined collectively over time by the medical profession as a whole. The paper traces the natural history of the diagnosis in the U.S. through five stages: introduction, confirmation and corroboration, dissent, expansion, and diffusion. FAS serves as an example of the social construction of clinical diagnosis; moral entrepreneurship plays a key role and the medical literature on FAS is infused with moral rhetoric, including passages from classical mythology, philosophy, and the Bible. FAS is a moral as well as a medical diagnosis, reflecting the broader cultural concerns of the era in which it was discovered, including a greater awareness of environmental threats to health, the development of fetal medicine, an emphasis on "the perfect child," and a growing paradigm of maternal-fetal conflict. PMID:10075244

Armstrong, E M

1998-12-01

84

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

85

Prostate Cancer in Patients with Metabolic Syndrome Is Associated with Low Grade Gleason Score When Diagnosed on Biopsy  

PubMed Central

Purpose Studies on the relationship of metabolic syndrome (MS) and prostate cancer are controversial. We evaluated the association between MS and prostate cancer characteristics in patients who underwent transrectal ultrasound-guided prostate biopsy. Materials and Methods From October 2003 to May 2011, patients with a prostate-specific antigen (PSA) value?4 ng/ml or abnormal digital rectal examination (DRE) result underwent transrectal ultrasound-guided prostate biopsy. MS was diagnosed according to the Adult Treatment Panel III. Clinicopathologic factors including PSA, DRE, prostate volume, age, waist circumference, body mass index (BMI), lipid profiles, fasting blood sugar level, and MS were considered for analysis. Results Three hundred fifty-four patients were enrolled (mean age, 68.86±8.95 years; mean PSA, 13.97±20.42 ng/ml). Seventy-five patients (21.2%) had MS and 90 patients (25.4%) were diagnosed as having prostate cancer, including 27 (30%) with MS and 63 (70%) without MS. Total PSA value and prostate volume were significant predictors for prostate cancer. However, MS and BMI were not significantly related to increased cancer risk. Prostate cancer patients with MS had significantly lower Gleason scores (average, 6.63±1.92) than did prostate cancer patients without MS (average, 7.54±1.71; p=0.029). Conclusions Presence of MS was associated with a significantly decreased risk of high-grade prostate cancer. A larger, prospective, multicenter investigation is mandatory to clarify the relationship between MS and prostate cancer. PMID:23060995

Jeon, Kyoung Pil; Jeong, Tae Yoong; Lee, Seo Yeon; Hwang, Sang Won; Shin, Joong Hui

2012-01-01

86

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

Garcia-Manzanares, Alvaro; Lucendo, Alfredo J; Gonzalez-Castillo, Sonia; Moreno-Fernandez, Jesus

2011-01-01

87

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

88

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

PubMed Central

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

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

2013-01-01

89

Necrolytic migratory erythema associated with glucagonoma syndrome diagnosed by ??Ga-DOTANOC PET-CT.  

PubMed

Necrolytic migratory erythema (NME) is a rare dermatological condition which presents a diagnostic challenge. Repeated negative skin biopsies and non-detection of any pancreatic tumor in conventional imaging modalities like a computed tomography (CT) scan and ultrasonogram (USG) make the diagnosis more difficult. By the time the diagnosis is made, the patient usually presents with metastasis. We present a rare case of difficult to diagnose NME, as repeated skin biopsies and conventional imaging modalities like CT and USG could not detect the underlying glucagonoma. A (68)Ga-DOTANOC positron emission tomography PET-CT was able to detect the underlying cause of NME as glucagonoma of the pancreas and the same investigation confirmed the absence of any metastasis elsewhere in the body. The tumor was excised and patient dramatically improved, and all skin lesions disappeared. PMID:23279825

Sahoo, Manas K; Gupta, Somesh; Singh, Ishita; Pahwa, Shivani; Durgapal, Prashant; Bal, Chandra Sekhar

2014-06-01

90

[Two children with cerebral and retinal hemorrhages: do not diagnose shaken baby syndrome too rapidly].  

PubMed

We report on 2 cases associating retinal (RH) and cerebral hemorrhages (CH), which first suggested the diagnosis of shaken baby syndrome (SBS). After an etiologic search, the diagnosis was corrected: the first case was a late hemorrhagic disease of the newborn and the second case hemophilia A. RH is a major feature of SBS, although not pathognomonic. There is no specific RH of SBS but they usually affect the posterior retinal pole. Typically, RHs of SBS are present in both eyes, although unilateral RHs do not exclude the diagnosis of SBS. The relationship between RH and CH has been reported in SBS but also in other diseases. Thus, one must search for hemostasis abnormalities, even though the clinical presentation suggests SBS. Ignoring SBS as well as coming to the conclusion of SBS too quickly should be avoided. Diagnostic difficulties may be related to the number of physicians involved and their interpretation of the facts. These 2 cases underline the need for working as a team that includes hematologists able to interpret coagulation parameters. PMID:22115729

Botte, A; Mars, A; Wibaut, B; De Foort-Dhellemmes, S; Vinchon, M; Leclerc, F

2012-01-01

91

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

92

Delivery of a full-term pregnancy after TCM treatment in a previously infertile patient diagnosed with polycystic ovary syndrome.  

PubMed

There is a growing body of literature supporting the use of traditional Chinese medicine (TCM) for increasing the likelihood of conception and carrying a pregnancy to term. The use of TCM in fertility treatment is becoming more widely recognized, and several clinical trials are being supported by the National Center for Complementary and Alternative Medicine to assess the efficacy of such treatments, as evidenced by the listings in the National Institutes of Health's Computer Retrieval of Information on Scientific Projects (CRISP) database. In addition to subjecting TCM to the rigors of Western scientific standards, it is important that TCM and other CAM practitioners share their expertise and practical experiences through case reports in the same spirit that their Western medical counterparts do. This dissemination of knowledge is critical in increasing awareness about TCM within the broader scientific community. The clinical case report presented here describes the course of TCM treatment that resulted in a successful pregnancy in a previously infertile woman who had been diagnosed with polycystic ovary syndrome (PCOS). It also illustrates the importance of the need for collaborative efforts between TCM and Western medical practitioners. PMID:19161048

Stone, Jennifer A M; Yoder, Karmen K; Case, Elizabeth A

2009-01-01

93

Intravenous tissue plasminogen activator therapy for an acute ischemic stroke patient with later diagnosed unilateral moyamoya syndrome.  

PubMed

We report the use of intravenous tissue plasminogen activator (t-PA) therapy in a 38-year-old patient who was later diagnosed with unilateral moyamoya syndrome. The patient had a sudden onset of unconsciousness, vomiting, dysarthria, and tetraparesis. A neurologic examination revealed consciousness disturbance, right central facial nerve palsy, dysarthria, and tetraparesis with bilateral exotropia and horizontal gaze palsy. A magnetic resonance imaging scan on admission did not reveal fresh cerebral infarction or hemorrhage, but magnetic resonance angiography revealed severe stenosis at the terminal portion of left internal carotid artery, the anterior cerebral arteries, and the right vertebral artery. We suspected infarction of brain stem. The patient was treated with intravenous t-PA approximately 2.5 hours after onset, and the patient demonstrated a remarkable recovery 1 day after onset and had only a minimal deficit at discharge (12 days after onset). Cerebral angiography 7 days after onset confirmed the diagnosis of moyamoya disease. The present case suggests that therapeutic intravenous t-PA may be applicable for an acute ischemic stroke patient coexisting with moyamoya disease after careful evaluation and discussion with patient and family. PMID:22832175

Yokoyama, Shota; Manabe, Yasuhiro; Fujii, Daiki; Ikeda-Sakai, Yasuko; Narai, Hisashi; Omori, Nobuhiko; Abe, Koji

2013-10-01

94

The significance of intracompartmental pressures in diagnosing chronic exertional compartment syndrome – A metaanalysis of studies monitoring dynamic anterior compartment pressures during exercise  

Microsoft Academic Search

Summary  \\u000a \\u000a \\u000a Introduction: The chronic exertional compartment syndrome of the musculus tibialis anterior is thought to be responsible for a major part\\u000a of complaints of the lower leg among active sportsmen. There is an important role of tissue pressure measurement in diagnosing\\u000a chronic anterior compartment syndrome during muscular activity. However, there is a controversial debate about the relevant\\u000a parameters.\\u000a \\u000a \\u000a \\u000a \\u000a \\u000a Methods: Metaanalysis

C. Willy; J. Sterk; H.-U. Völker; S. Benesch; H. Gerngroß

1999-01-01

95

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

96

Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome in the Index Case or Her Relatives  

PubMed Central

Endometrial cancer is the first malignancy in 50% of women with Lynch syndrome, an autosomal dominant cancer-prone syndrome caused by germline mutations in genes encoding components of the DNA mismatch repair (MMR) pathway. These women (2-4% of all those with endometrial cancer) are at risk of metachronous colorectal cancer and other Lynch syndrome-associated cancers, and their first-degree relatives are at 50% risk of Lynch syndrome. Testing all women newly diagnosed with endometrial cancer for Lynch syndrome may have clinical utility for the index case and her relatives by alerting them to the benefits of surveillance and preventive options, primarily for colorectal cancer. The strategy involves offering germline DNA mutation testing to those whose tumour shows loss-of-function of MMR protein(s) when analysed for microsatellite instability (MSI) and/or by immunohistochemisty (IHC). In endometrial tumours from unselected patients, MSI and IHC have a sensitivity of 80-100% and specificity of 60-80% for detecting a mutation in an MMR gene, though the number of suitable studies for determining clinical validity is small. The clinical validity of strategies to exclude those with false-positive tumour test results due to somatic hypermethylation of the MLH1 gene promoter has not been determined. Options include direct methylation testing, and excluding those over the age of 60 who have no concerning family history or clinical features. The clinical utility of Lynch syndrome testing for the index case depends on her age and the MMR gene mutated: the net benefit is lower for those diagnosed at older ages and with less-penetrant MSH6 mutations. To date, women with these features are the majority of those diagnosed through screening unselected endometrial cancer patients but the number of studies is small. Similarly, clinical utility to relatives of the index case is higher if the family’s mutation is in MLH1 or MSH2 than for MSH6 or PMS2. Gaps in current evidence include a need for large, prospective studies on unselected endometrial cancer patients, and for health-economic analysis based on appropriate assumptions. PMID:24056992

Stewart, Alison

2013-01-01

97

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.  

PubMed

Barth syndrome (BTHS) is an X-linked disorder characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ). Although early diagnosis is critical to prevent the progression of heart failure, this disease remains unrecognized when heart failure is not clinically significant. Here we report on a 13-year-old boy with no family history of BTHS who was diagnosed with the syndrome in the subclinical stage of heart failure. The clues to the diagnosis of BTHS in this patient were the findings of lipid storage myopathy in the skeletal muscle biopsy, elevated plasma brain natriuretic peptide, and the diagnosis of isolated noncompaction of the ventricular myocardium in echocardiography. Genetic studies of TAZ revealed a disease-causing mutation (p.Gly216Arg) in this patient. Physicians should be aware of the possibility of this disease and carry out genetic studies when it is considered. PMID:21932011

Takeda, Atsuhito; Sudo, Akira; Yamada, Masafumi; Yamazawa, Hirokuni; Izumi, Gaku; Nishino, Ichizo; Ariga, Tadashi

2011-11-01

98

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

99

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

100

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

101

4H Syndrome  

MedlinePLUS

... 4H syndrome is a genetic disorder. Its genetic basis is however still not known. How is 4H syndrome diagnosed? 4H syndrome is diagnosed on the basis of the clinical symptoms, especially ataxia and delayed ...

102

Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis are malformation syndromes with cognitive deficits caused by mutations of 7-dehydrocholesterol reductase (DHCR7) and lathosterol 5-desaturase (SC5D), respectively. DHCR7 encodes the last enzyme in the Kandutsch-Russel cholesterol biosynthetic pathway, and impaired DHCR7 activity leads to a deficiency of cholesterol and an accumulation of 7-dehydrocholesterol. SC5D catalyzes the synthesis of 7-dehydrocholesterol from lathosterol. Impaired SC5D activity leads to a similar deficiency of cholesterol but an accumulation of lathosterol. Although the genetic and biochemical causes underlying both syndromes are known, the pathophysiological processes leading to the developmental defects remain unclear. To study the pathophysiological mechanisms underlying SLOS and lathosterolosis neurological symptoms, we performed quantitative proteomics analysis of SLOS and lathosterolosis mouse brain tissue and identified multiple biological pathways affected in Dhcr7?3–5/?3–5 and Sc5d?/? E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Comparison of proteome alterations in both Dhcr7?3–5/?3–5 and Sc5d?/? brain tissues helps elucidate whether perturbed protein expression was due to decreased cholesterol or a toxic effect of sterol precursors. Validation of the proteomics results confirmed increased expression of isoprenoid and cholesterol synthetic enzymes. This alteration of isoprenoid synthesis may underlie the altered posttranslational modification of Rab7, a small GTPase that is functionally dependent on prenylation with geranylgeranyl, that we identified and validated in this study. These data suggested that although cholesterol synthesis is impaired in both Dhcr7?3–5/?3–5 and Sc5d?/? embryonic brain tissues the synthesis of nonsterol isoprenoids may be increased and thus contribute to SLOS and lathosterolosis pathology. This proteomics study has provided insight into the pathophysiological mechanisms of SLOS and lathosterolosis, and understanding these pathophysiological changes will help guide clinical therapy for SLOS and lathosterolosis. PMID:20305089

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

2010-01-01

103

Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type IV.  

PubMed

Ehlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling. We here report the case of a 50 year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture. This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential diagnosis even in adult patients without a known history of connective tissue disease and no prior complications. PMID:22559935

Dohle, C; Baehring, J M

2012-07-15

104

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

105

Evaluations of non-contrast enhanced MR venography with inflow inversion recovery sequence in diagnosing Budd-Chiari syndrome.  

PubMed

Non-contrast-enhanced (NCE) inflow inversion recovery magnetic resonance venography (MRV)and digital subtraction angiography (DSA) examination were carried out in 35 patients who were suspected of having Budd-Chiari syndrome (BCS). With DSA as the reference, NCE MRV got 100% in the diagnostic sensitivity, 67.8% in the specificity, 97.1% in the accuracy, 100% in the negative predictive value, and 96.9% in the positive predictive value. The consistency between NCE MRV and DSA in the depiction of IVC was excellent. NCE MRV is regarded as an alternative method in the diagnosis of BCS. PMID:25043534

Wu, Minghui; Xu, Junling; Shi, Dapeng; Shen, Hao; Wang, Meiyun; Li, Yongli; Han, Xinwei; Zhai, Shuiting

2014-01-01

106

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.

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

107

Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases  

PubMed Central

Dysregulation of cholesterol homeostasis in the brain is increasingly being linked to chronic neurodegenerative disorders, including Alzheimer’s disease (AD), Huntington’s disease (HD), Parkinson’s disease (PD), Niemann-Pick type C (NPC) disease and Smith-Lemli Opitz syndrome (SLOS). However, the molecular mechanisms underlying the correlation between altered cholesterol metabolism and the neurological deficits are, for the most part, not clear. NPC disease and SLOS are caused by mutations in genes involved in the biosynthesis or intracellular trafficking of cholesterol, respectively. However, the types of neurological impairments, and the areas of the brain that are most affected, differ between these diseases. Some, but not all, studies indicate that high levels of plasma cholesterol correlate with increased risk of developing AD. Moreover, inheritance of the E4 isoform of apolipoprotein E (APOE), a cholesterol-carrying protein, markedly increases the risk of developing AD. Whether or not treatment of AD with statins is beneficial remains controversial, and any benefit of statin treatment might be due to anti-inflammatory properties of the drug. Cholesterol balance is also altered in HD and PD, although no causal link between dysregulated cholesterol homeostasis and neurodegeneration has been established. Some important considerations for treatment of neurodegenerative diseases are the impermeability of the blood-brain barrier to many therapeutic agents and difficulties in reversing brain damage that has already occurred. This article focuses on how cholesterol balance in the brain is altered in several neurodegenerative diseases, and discusses some commonalities and differences among the diseases. PMID:23065638

Vance, Jean E.

2012-01-01

108

7-Dehydrocholesterol metabolites produced by sterol 27-hydroxylase (CYP27A1) modulate liver X receptor activity.  

PubMed

7-Dehydrocholesterol (7-DHC) is a common precursor of vitamin D3 and cholesterol. Although various oxysterols, oxygenated cholesterol derivatives, have been implicated in cellular signaling pathways, 7-DHC metabolism and potential functions of its metabolites remain poorly understood. We examined 7-DHC metabolism by various P450 enzymes and detected three metabolites produced by sterol 27-hydroxylase (CYP27A1) using high-performance liquid chromatography. Two were further identified as 25-hydroxy-7-DHC and 26/27-hydroxy-7-DHC. These 7-DHC metabolites were detected in serum of a patient with Smith-Lemli-Opitz syndrome. Luciferase reporter assays showed that 25-hydroxy-7-DHC activates liver X receptor (LXR) ?, LXR? and vitamin D receptor and that 26/27-hydroxy-7-DHC induces activation of LXR? and LXR?, although the activities of both compounds on LXRs were weak. In a mammalian two-hybrid assay, 25-hydroxy-7-DHC and 26/27-hydroxy-7-DHC induced interaction between LXR? and a coactivator fragment less efficiently than a natural LXR agonist, 22(R)-hydroxycholesterol. These 7-DHC metabolites did not oppose agonist-induced LXR activation and interacted directly to LXR? in a manner distinct from a potent agonist. These findings indicate that the 7-DHC metabolites are partial LXR activators. Interestingly, 25-hydroxy-7-DHC and 26/27-hydroxy-7-DHC suppressed mRNA expression of sterol regulatory element-binding protein 1c, an LXR target gene, in HepG2 cells and HaCaT cells, while they weakly increased mRNA levels of ATP-binding cassette transporter A1, another LXR target, in HaCaT cells. Thus, 7-DHC is catabolized by CYP27A1 to metabolites that act as selective LXR modulators. PMID:24269243

Endo-Umeda, Kaori; Yasuda, Kaori; Sugita, Kazuyuki; Honda, Akira; Ohta, Miho; Ishikawa, Minoru; Hashimoto, Yuichi; Sakaki, Toshiyuki; Makishima, Makoto

2014-03-01

109

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.  

PubMed

Prion protein gene mutations have been associated with clinical pictures mimicking neurodegenerative diseases different from inherited prion diseases (IPD). We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients affected by frontotemporal lobar degeneration syndrome, negative for mutations in genes causative of dementia. Neither the first carrier, a 67-year-old male in which the onset was a progressive non-fluent aphasia, nor the second carrier, a 78-year-old male affected by frontotemporal dementia and parkinsonism, showed any clinical or instrumental findings suggestive of IPD. Genetic screening of healthy controls and in silico analysis provide support for the potential pathogenicity of this variant. Patient phenotypes, unclassifiable as prion disease, may depend on the location of the mutation in the N-terminal domain, outside the amyloid core of pathologic prion protein, although further functional studies are required to determine whether and how this mutation exerts its pathogenic effect. However, genetic screening of prion protein gene becomes relevant in familial degenerative dementia, particularly in geographical areas with high IPD prevalence. PMID:25022973

Bernardi, Livia; Cupidi, Chiara; Frangipane, Francesca; Anfossi, Maria; Gallo, Maura; Conidi, Maria Elena; Vasso, Franca; Colao, Rosanna; Puccio, Gianfranco; Curcio, Sabrina A M; Mirabelli, Maria; Clodomiro, Alessandra; Di Lorenzo, Raffaele; Smirne, Nicoletta; Maletta, Raffaele; Bruni, Amalia C

2014-11-01

110

Asperger Syndrome  

MedlinePLUS

... and symptoms of Asperger syndrome is given the diagnosis of Autism Spectrum Disorder (ASD). If a person was diagnosed with Asperger syndrome before May 2013, his or her diagnosis stays the same, but can be considered ASD ...

111

Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971  

PubMed Central

Transient myeloproliferative disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although lethal in some is distinguished by its spontaneous resolution. Later development of acute myeloid leukemia (AML) occurs in some. Prospective enrollment (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the use of uniform monitoring and intervention guidelines. Prevalent at diagnosis were leukocytosis, peripheral blast exceeding marrow blast percentage, and hepatomegaly. Among those with life-threatening symptoms, most (n = 29/38; 76%) received intervention therapy until symptoms abated and then were monitored similarly. Organomegaly with cardiopulmonary compromise most frequently led to intervention (43%). Death occurred in 21% but only 10% were attributable to TMD (intervention vs observation patients: 13/14 vs 1/15 because of TMD). Among those solely observed, peripheral blasts and all other TMD symptoms cleared at a median of 36 and 49 days from diagnosis, respectively. On the basis of the diagnostic clinical findings of hepatomegaly with or without life-threatening symptoms, 3 groups were identified with differing survival: low risk with neither finding (38%), intermediate risk with hepatomegaly alone (40%), and high risk with both (21%; overall survival: 92% ± 8%, 77% ± 12%, and 51% ± 19%, respectively; P ? .001). Among all, AML subsequently occurred in 16% at a median of 441 days (range, 118-1085 days). The trial is registered at http://www.clinicaltrials.gov as NCT00003593. PMID:21849481

Alonzo, Todd A.; Gerbing, Robert B.; Hilden, Joanne M.; Sorrell, April D.; Sharma, Mukta; Loew, Thomas W.; Arceci, Robert J.; Barnard, Dorothy; Doyle, John; Massey, Gita; Perentesis, John; Ravindranath, Yaddanapudi; Taub, Jeffrey; Smith, Franklin O.

2011-01-01

112

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3  

PubMed Central

Background Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis. PMID:22938382

2012-01-01

113

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

114

Diagnosing Deep Venous Thrombosis  

PubMed Central

Patients often present with unexplained lower limb pain and swelling. It is important to exclude deep venous thrombosis in the diagnosis because of the threat of sudden death. Simple clinical diagnosis is unacceptable, and noninvasive tests should be used initially. Serial testing detects proximal extension of isolated calf thrombi. Multiple diagnostic modalities are employed to diagnose a new deep venous thrombosis in patients with postphlebitic syndrome. PMID:21221369

Doyle, D. Lynn

1992-01-01

115

Definition of insulin resistance using the homeostasis model assessment (HOMA-IR) in IVF patients diagnosed with polycystic ovary syndrome (PCOS) according to the Rotterdam criteria.  

PubMed

Polycystic ovary syndrome (PCOS) women are more insulin resistant than general population. Prevalence data on insulin resistance (IR) in PCOS vary depending on population characteristics and methodology used. The objectives of this study were to investigate whether IR in PCOS is exclusively associated with body mass and to assess the prevalence of IR in lean and overweight/obese PCOS. Study included 250 consecutive women who attended a Department of Human Reproduction diagnosed as having PCOS according to the Rotterdam criteria. Control group comprised 500 healthy women referred for male factor infertility evaluation during the same period as the PCOS women. PCOS women (n = 250) were more insulin resistant than controls (n = 500) even after adjustment for age and body mass index (BMI) (P = 0.03). Using logistic regression analysis, BMI ?25 kg/m(2) (OR 6.0; 95 % CI 3.3-11.0), PCOS (OR 2.2; 95 % CI 1.4-3.5) and waist circumference ?80 cm (OR 2.0; 95 % CI 1.1-3.8) were identified as independent determinants of IR (P < 0.001). IR was more prevalent in overweight/obese controls (n = 100) than in lean PCOS women (n = 150), 31 versus 9.3 %, but less prevalent than in overweight/obese PCOS (n = 100), 31 versus 57 %. The prevalence of IR between lean controls (5 %) and lean PCOS (9.3 %) did not significantly differ. Both PCOS-specific and obesity-related IR independently contribute to IR in PCOS. Using HOMA-IR cutoff value of 3.15 specific for Croatian women in our clinical setting, the assessed prevalence of IR in lean and overweight/obese PCOS women was 9.3 and 57 %, respectively. PMID:24522614

Alebi?, Miro Simun; Bulum, Tomislav; Stojanovi?, Nataša; Duvnjak, Lea

2014-11-01

116

How Are Myelodysplastic Syndromes Diagnosed?  

MedlinePLUS

... light. The instrument detects the light, and a computer counts the cells. This test may not be needed for all patients. Cytogenetics This test looks at the chromosomes inside the cells. DNA in human cells is packed into chromosomes. Each cell should ...

117

Newly Diagnosed?  

MedlinePLUS

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

118

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 risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...

119

Tourette Syndrome (For Parents)  

MedlinePLUS

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

120

Mutation characterization in the GATA-1 gene in patients with Down's Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia.  

PubMed

Patients with Down's Syndrome have a higher risk of developing acute megakaryoblastic leukemia (AML). Ten per cent of newborn infants with this syndrome have transient abnormal myelopoiesis (TAM), indistinguishable from AML, which generally remits spontaneously. A high incidence of GATA-1 gene mutations was described in both groups of patients. Fourteen bone marrow DNA samples (10 ATM/4 AML) were analyzed by PCR and sequencing; these samples were obtained from 13 patients with Down's Syndrome to describe the rate and mutation characteristics of the GATA-1 gene in the studied population and its consequences at a protein level. Mutations were detected in 10 out of 10 TAM and in 3 out of 4 AML, which at a protein level would result in an early termination codon (n= 5), alterations in the splicing site (n= 6) or sequence change (n= 3). The high rate of GATA-1 gene mutations was confirmed in newborn infants with Down's Syndrome and MAT or AML. PMID:24196768

Mansini, Adrián P; Rubio, Patricia L; Rossi, Jorge G; Gallego, Marta S; Medina, Adriana; Zubizarreta, Pedro A; Felice, María S; Alonso, Cristina N

2013-12-01

121

HELLP syndrome  

MedlinePLUS

... in 10-20% of pregnant women with severe preeclampsia or eclampsia . Most often HELLP develops before the ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

122

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 ...

123

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

124

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

2014-07-10

125

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

Microsoft Academic Search

BACKGROUND: Chronic exertional compartment syndrome (CECS) is characterized by elevated pressures within a closed space of an extremity muscular compartment, causing pain and\\/or disability by impairing the neuromuscular function of the involved compartment. The diagnosis of CECS is primarily made on careful history and physical exam. The gold standard test to confirm the diagnosis of CECS is invasive intra-compartmental pressure

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

2009-01-01

126

[Prenatal symptoms and diagnosis of inherited metabolic diseases].  

PubMed

Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and the accumulation of a compound upstream from the deficient metabolite(s). Diseases of intoxication by proteins (aminoacidopathies, organic acidurias, urea cycle defects) and by sugars (galactosemia, fructosemia) usually do not give prenatal symptoms since mothers protect their fetuses from pathological metabolite accumulation. A well-known exception is hypoplasia of corpus callosum, as is sometimes observed in nonketotic hyperglycinemia and sulfite oxidase deficiency. Conversely, women with phenylketonuria "poison" their fetus if they are not treated (spontaneous abortions, intrauterine growth restriction [IUGR], cardiac malformations, and brain disease). Amino acid synthesis defects can lead to prenatal symptoms: microcephaly in serine deficiency (detectable by amino acid analysis in fetal cord blood), and brain malformations in glutamine synthetase deficiency. Impaired folate metabolism is involved in a large fraction of neurodevelopmental defects referred to as spina bifida, yet the underlying genetic component(s) are largely unknown. Energy metabolism diseases caused by defects in the synthesis or utilization of relevant metabolites lead to organ dysfunctions or malformations, but prenatal diagnosis is usually impossible unless genetic analysis can rely on a previously affected child in the family. A somewhat intermediate condition is defects of mitochondrial beta-oxidation of fatty acids, as they may sometimes be symptomatic prenatally (notably the HELLP syndrome or other presentations), and in this case, organic acid and acylcarnitine analysis in amniotic fluid can be informative in the absence of an index case. In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome. Although many metabolic disorders show biochemical abnormalities during fetal development that are informative for prenatal diagnosis, only a fraction of them are clinically/sonographically symptomatic before birth, thus allowing for prenatal diagnosis in the absence of an index case, i.e., serine deficiency, some fatty acid beta-oxidation defects, transaldolase deficiency, lysosomal diseases, CDG, Zellweger syndrome, and SLO syndrome. PMID:22884749

Brassier, A; Ottolenghi, C; Boddaert, N; Sonigo, P; Attié-Bitach, T; Millischer-Bellaiche, A-E; Baujat, G; Cormier-Daire, V; Valayannopoulos, V; Seta, N; Piraud, M; Chadefaux-Vekemans, B; Vianey-Saban, C; Froissart, R; de Lonlay, P

2012-09-01

127

Reconstructing the incidence of human immunodeficiency virus (HIV) in Hong Kong by using data from HIV positive tests and diagnoses of acquired immune deficiency syndrome  

Microsoft Academic Search

The human immunodeficiency virus-acquired immune deficiency syndrome (HIV-AIDS) epidemic in Hong Kong has been under surveillance in the form of voluntary reporting since 1984. However, there has been little discussion or research on the reconstruction of the HIV incidence curve. This paper is the first to use a modified back-projection method to estimate the incidence of HIV in Hong Kong

P. H. Chau; Paul S. F. Yip; Jisheng S. Cui

2003-01-01

128

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

2013-12-31

129

Associated malformations in patients with limb reduction deficiencies.  

PubMed

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

2010-01-01

130

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

PubMed

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

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

2012-09-12

131

Interleukin-6 and C-Reactive Protein Are Overexpressed in the Liver of Perinatal Deaths Diagnosed with Fetal Inflammatory Response Syndrome  

PubMed Central

Anatomopathologic studies have failed to define the fetal inflammatory response syndrome (FIRS) as a cause of fetal death. Here, liver fragments of perinatal autopsies were collected at a university hospital from 1990 to 2009 and classified according to the cause of death, perinatal stress, and gestational age (GA) of the fetus. IL-6, TNF-?, and C-reactive protein (CRP) expression were immunostained, respectively, with primary antibody. Cases with congenital malformation, ascending infection, and perinatal anoxia showed increased IL-6, CRP, and TNF-?, respectively. Prematures presented higher expression of IL-6 whereas term births showed higher expression of CRP. Cases classified as acute stress presented higher expression of IL-6 and TNF-? and cases with chronic stress presented higher expression of CRP. GA correlated negatively with IL-6 and positively with CRP and TNF-?. Body weight correlated negatively with IL-6 and positively with CRP and TNF-?. Despite the diagnosis of FIRS being clinical and based on serum parameters, the findings in the current study allow the inference of FIRS diagnosis in the autopsied infants, based on an in situ liver analysis of these markers. PMID:24659848

Pereira, Livia Helena M.; Machado, Juliana R.; Olegario, Janainna G. P.; Rocha, Laura P.; Silva, Marcos V.; Guimaraes, Camila S. O.; Reis, Marlene A.; Castellano, Lucio Roberto; Ramalho, Fernando S.; Correa, Rosana R. M.

2014-01-01

132

Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.  

PubMed

Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives. PMID:22406498

Peraita-Ezcurra, Milena; Martínez-García, Mónica; Ruiz-Pérez, Víctor L; Sánchez-Gutiérrez, María Eugenia; Fenollar-Cortés, María; Vélez-Monsalve, Camilo; Ramos-Corrales, Carmen; Pastor, Ignacio; Santonja, Carlos; Trujillo-Tiebas, María José

2012-05-10

133

[Kabuki syndrome, a congenital syndrome with multiple anomalies  

Microsoft Academic Search

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to

A. M. den Biggelaar; A. M. Kuijpers-Jagtman; S. J. Berge; C. Katsaros

2006-01-01

134

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

PubMed Central

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

2009-01-01

135

CLOVES syndrome.  

PubMed

A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. PMID:24161472

Bloom, Jacob; Upton, Joseph

2013-12-01

136

Cushing Syndrome  

PubMed Central

A variety of diagnostic advances including radioimmunoassay of adrenocorticotropic hormone (ACTH) have increased the number of methods for laboratory investigation of Cushing syndrome.* However, experience with these procedures has led to a recognition of their limitations. We have developed an algorithm which incorporates these newer techniques and minimizes the number of procedures required to diagnose the various causes of Cushing syndrome. At present, we recommend pituitary surgical operations for pituitary-dependent Cushing syndrome because we believe this disease is caused by the development of a pituitary ACTH-secreting tumor. PMID:6992458

Cook, David M.; Kendall, John W.; Jordan, Richard

1980-01-01

137

How Is Atherosclerosis Diagnosed?  

MedlinePLUS

... care, such as: A cardiologist. This is a doctor who specializes in diagnosing and treating heart diseases and ... disease (MVD). A vascular specialist. This is a doctor who specializes in diagnosing and treating blood vessel problems. ...

138

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

139

How Is Long QT Syndrome Diagnosed?  

MedlinePLUS

... of potassium or sodium. These conditions include the eating disorders anorexia nervosa and bulimia, excessive vomiting or diarrhea, and certain thyroid disorders. Genetic Tests Genetic blood tests can detect some forms ...

140

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

141

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

142

[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

143

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

144

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

145

Fibromyalgia syndrome.  

PubMed

Fibromyalgia syndrome (FMS) is a more common a condition than previously estimated. The most recent estimates are that 3 to 6 million patients have been diagnosed with FMS. The ACR criteria, established in 1990, provide the primary care provider with definitive subjective and objective findings that have shown to be 88% accurate in their ability to diagnose patients with the syndrome. There is no cure for FMS. It is a chronic condition, but patients quality of life can be improved when fatigue and pain are reduced. The institution of a plan that is developed collaboratively by the patient and the provider is the essence of successful symptom management. The hallmarks of the management plan include: improving the quality of sleep through the judicious use of medications that boost the body's level of serotonin (therefore reducing fatigue), and reducing pain through complimentary modalities such as exercise, physical therapy, relaxation techniques, massage, and biofeedback. PMID:9769357

Smith, W A

1998-12-01

146

How Is Angina Diagnosed?  

MedlinePLUS

... not enough to diagnose angina or CHD. Coronary Angiography and Cardiac Catheterization Your doctor may recommend coronary ... where your doctor inserts the catheter. Computed Tomography Angiography Computed tomography (to-MOG-rah-fee) angiography (CTA) ...

147

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 ...

148

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

149

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

PubMed Central

Summary Background: The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Case Report: Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features. Conclusions: Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening. PMID:23569502

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

2012-01-01

150

Pfeiffer syndrome.  

PubMed

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia. PMID:16740155

Vogels, Annick; Fryns, Jean-Pierre

2006-01-01

151

Diagnosing and Managing Violence  

PubMed Central

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

2011-01-01

152

Nutrients & Diagnosing Nutrient Needs  

E-print Network

Organic matter decomposition Weathering of soil minerals and rocks Atmosphere & precipitation OrganicNutrients & Diagnosing Nutrient Needs Carrie Laboski Dept. of Soil Science UW-Madison #12;Sources of nutrients available for plant uptake Nutrients in the soil solution are: In ionic form At low

Balser, Teri C.

153

Diagnosing building operational problems  

Microsoft Academic Search

Inefficient operation of HVAC systems wastes valuable resources, can be difficult to track and rarely receives the attention necessary from understaffed building operators. The authors have found that building operators have a need for focused, timely energy information. New techniques that are capable of automatically tracking and diagnosing problems in HVAC systems are beginning to appear. Such techniques have been

J. S. Haberl; J. V. Spadaro; L. K. Norford

1989-01-01

154

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

155

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

156

Diagnoses and interventions in podiatry  

Microsoft Academic Search

In the present study a quantitative description is given of diagnoses and interventions in podiatry. Data are used from a survey on podiatry practice in The Netherlands. Data have been recorded by 36 podiatrists on 897 patients. Information was gathered on patient characteristics, the medical diagnoses, the podiatry diagnoses (impairments and disabilities), treatment goals derived from these diagnoses, and interventions.

Walter M. Zuijderduin; Joost Dekker

1996-01-01

157

Diagnosing building operational problems  

SciTech Connect

Inefficient operation of HVAC systems wastes valuable resources, can be difficult to track and rarely receives the attention necessary from understaffed building operators. The authors have found that building operators have a need for focused, timely energy information. New techniques that are capable of automatically tracking and diagnosing problems in HVAC systems are beginning to appear. Such techniques have been applied to several building complexes with encouraging results. They show that operational problems can be correctly diagnosed using metered data and computerized decision support in the form of expert systems. This article reviews the application of intelligent systems to building HVAC diagnostics, discusses selected applications and presents early results from applications to several buildings.

Haberl, J.S.; Spadaro, J.V.; Norford, L.K.

1989-06-01

158

Diagnosing ADHD in Adolescence  

PubMed Central

Objective This study examines adolescent-specific practical problems associated with current practice parameters for diagnosing ADHD in order to inform recommendations for the diagnosis of ADHD in adolescents. Specifically, issues surrounding the use of self vs. informant ratings, diagnostic threshold, and retrospective reporting of childhood symptoms were addressed. Method Using data from the Pittsburgh ADHD Longitudinal Study (PALS), parent, teacher, and self-reports of symptoms and impairment were examined for 164 adolescents with a childhood diagnosis of ADHD (age M=14.74) and 119 demographically similar non-ADHD controls (total N=283). Results Results indicated that 70% of the well-diagnosed childhood ADHD group continued to meet DSM-IV-TR diagnostic criteria for ADHD in adolescence; however, an additional 17% possessed clinically significant impairment in adolescence, but did not qualify for a current ADHD diagnosis. The optimal source of information was combined reports from the parent and a core academic teacher. Adolescents with ADHD met criteria for very few symptoms of hyperactivity/impulsivity, suggesting a need to revisit the diagnostic threshold for these items. Additionally, emphasis on impairment, rather than symptom threshold improved identification of adolescents with a gold-standard childhood diagnosis of ADHD and persistent ADHD symptoms. Parent retrospective reports of baseline functioning, but not adolescent self-reports, were significantly correlated with reports collected at baseline in childhood. Conclusions We offer recommendations for diagnosing ADHD in adolescence based upon these findings. PMID:22148878

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

2014-01-01

159

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

160

Sensory syndromes.  

PubMed

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

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

2012-01-01

161

[Kabuki syndrome, a congenital syndrome with multiple anomalies].  

PubMed

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described. PMID:17193989

den Biggelaar, A M; Kuijpers-Jagtman, A M; Bergé, S J; Katsaros, C

2006-12-01

162

The DiGeorge syndrome  

Microsoft Academic Search

This study describes clinical signs and symptoms in 16 patients with the DiGeorge syndrome (DGS). Diagnosed on the basis of typical facial stigmata, a broad spectrum of severity is seen with respect to congenital heart disease, hypoparathyroidism and immunologic parameters. A simple index of severity is introduced that clearly differentiates complete forms of the syndrome (cDGS) with poor prognosis from

W. Miiller; H. H. Peter; M. Wilken; H. Jiippner; H. C. Kallfelz; H. P. Krohn; K. Miller; C. H. L. Rieger

1988-01-01

163

Foreign accent syndrome mimicked by Garcin syndrome with spontaneous resolution.  

PubMed

An English speaking women developed a French accent, without any aphasic syndromes, in conjunction with multiple left sided cranial nerve deficits, temporally related to cranial trauma. Extensive testing with multimodality magnetic resonance imaging, cerebrospinal fluid and laboratory analysis was unremarkable. She was followed over a 3 year period during which her French accent resolved as did the majority of her multiple unilateral cranial neuropathies. The neurological diagnoses included a foreign accent syndrome attributed to a reversible Garcin syndrome. PMID:19096143

Hoffmann, Michael

2008-01-01

164

Newly Diagnosed Acute Promyelocytic Leukemia  

PubMed Central

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

Avvisati, Giuseppe

2011-01-01

165

Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood  

PubMed Central

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; n = 135) on measures of autism symptoms, adaptive functioning, behavior problems, and psychological symptoms. Results indicated that individuals dually diagnosed with fragile X syndrome and autism displayed greater communication and social reciprocity impairments than individuals with fragile X syndrome only. Individuals in the dually diagnosed group also exhibited higher levels of repetitive and challenging behaviors than either comparison group, suggesting a unique profile of vulnerability for those diagnosed with both fragile X syndrome and autism. PMID:22264109

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

2012-01-01

166

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 ...

167

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

168

Kabuki syndrome: a case report.  

PubMed

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population. PMID:17142329

Lung, Z H S; Rennie, A

2006-12-01

169

Joint hypermobility syndrome.  

PubMed

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

Fikree, Asma; Aziz, Qasim; Grahame, Rodney

2013-05-01

170

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

171

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

172

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

173

Cerebellar involvement of Griscelli syndrome type 2.  

PubMed

Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the literature. PMID:25315806

I?ikay, Sedat

2014-01-01

174

Diagnosing suffering: a perspective.  

PubMed

The alleviation of suffering is crucial in all of medicine, especially in the care of the dying. Suffering cannot be treated unless it is recognized and diagnosed. Suffering involves some symptom or process that threatens the patient because of fear, the meaning of the symptom, and concerns about the future. The meanings and the fear are personal and individual, so that even if two patients have the same symptoms, their suffering would be different. The complex techniques and methods that physicians usually use to make a diagnosis, however, are aimed at the body rather than the person. The diagnosis of suffering is therefore often missed, even in severe illness and even when it stares physicians in the face. A high index of suspicion must be maintained in the presence of serious disease, and patients must be directly questioned. Concerns over the discomfort of listening to patients' severe distress are usually more than offset by the gratification that follows the intervention. Often, questioning and attentive listening, which take little time, are in themselves ameliorative. The information on which the assessment of suffering is based is subjective; this may pose difficulties for physicians, who tend to value objective findings more highly and see a conflict between the two kinds of information. Recent advances in understanding how physicians increase the utility of information and make inferences allow one to reliably use the subjective information on which the diagnosis and treatment of suffering depend. Knowing patients as individual persons well enough to understand the origin of their suffering and ultimately its best treatment requires methods of empathic attentiveness and nondiscursive thinking that can be learned and taught. The relief of suffering depends on physicians acquiring these skills. PMID:10507963

Cassell, E J

1999-10-01

175

Pilzvergiftungen: Toxidrome, Diagnose und Therapie  

Microsoft Academic Search

\\u000a Summary  The major syndromes of mushroom poisoning can be divided by presentation timing: Early syndromes (symptom onset < 6 hrs after\\u000a ingestion) have little probability to cause organ damage. Epigastric pain, nausea, vomiting and diarrhea occur in most cases\\u000a and treatment includes initial gastrointestinal decontamination with oral activated charcoal and fluid rehydration. In addition,\\u000a an acute gastrointestinal syndrome can be combined

Peter Kaufmann; Innere Medizin

2007-01-01

176

Carpal tunnel syndrome in children.  

PubMed

Carpal tunnel syndrome rarely occurs in children. We retrospectively analyzed clinical data of 11 patients aged 5-17 diagnosed with carpal tunnel syndrome at a single pediatric neuromuscular center. Nerve conduction studies were performed according to the American Association of Electrodiagnostic Medicine recommendations. Additional imaging tests of the wrist were performed in 10 patients. In our group of 11 children, carpal tunnel syndrome was idiopathic in only 1 case. In the remaining subjects, it was secondary to congenital bone anomaly (6), hypothyroidism (2), or myopathic contractures (1). In 1 case, metabolic workup revealed an underlying mucopolysaccharidosis. Our results confirm that idiopathic carpal tunnel syndrome is rare in children. Hand clumsiness and thenar hypoplasia rather than sensory complaints are the presenting symptoms. Whenever carpal tunnel syndrome is diagnosed in a child, a thorough differential diagnosis should be made because of the secondary nature of this disease in most pediatric patients. PMID:24084629

Potulska-Chromik, Anna; Lipowska, Marta; Gawel, Malgorzata; Ryniewicz, Barbara; Maj, Edyta; Kostera-Pruszczyk, Anna

2014-02-01

177

The Greig cephalopolysyndactyly syndrome.  

PubMed

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

Biesecker, Leslie G

2008-01-01

178

How Is Aplastic Anemia Diagnosed?  

MedlinePLUS

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

179

Noonan syndrome.  

PubMed

Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ?50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. PMID:21771153

Turner, Anne M

2014-10-01

180

Tourette Syndrome  

MedlinePLUS

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

181

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 ...

182

Hypoplastic left heart syndrome in PAGOD syndrome.  

PubMed

Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929

Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami

2014-06-01

183

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

184

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 ...

185

Transcultural Nursing and Nursing Diagnoses.  

ERIC Educational Resources Information Center

Points out the inadequacies of the nursing diagnoses officially sanctioned by the North American Nursing Diagnosis Association for use with culturally diverse patients. Looks at the changes needed to make the defining characteristics more congruent with transcultural nursing. (JOW)

Geissler, Elaine M.

1991-01-01

186

How Is Bone Cancer Diagnosed?  

MedlinePLUS

... Topic How is bone cancer staged? How is bone cancer diagnosed? A patient’s symptoms, physical exam, and ... and other imaging tests. Imaging tests to detect bone cancer X-rays Most bone cancers show up ...

187

How Are Genetic Conditions Diagnosed?  

MedlinePLUS

... facial features, can suggest the diagnosis of a genetic disorder. A geneticist will do a thorough physical examination ... and biochemical genetic testing are used to diagnose genetic disorders. Other laboratory tests that measure the levels of ...

188

How Is Cardiogenic Shock Diagnosed?  

MedlinePLUS

... To Diagnose Shock and Its Underlying Causes Blood Pressure Test Medical personnel can use a simple blood pressure ... the most common sign of shock. A blood pressure test can be done before the person goes to ...

189

How Is Waldenstrom Macroglobulinemia Diagnosed?  

MedlinePLUS

... sometimes discuss ways to diagnose non-Hodgkin lymphoma (NHL). This is because WM is a type of ... worse outlook. Biopsies The symptoms of WM and NHL are not distinctive enough for a doctor to ...

190

How Is Polycythemia Vera Diagnosed?  

MedlinePLUS

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

191

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

PubMed

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

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

2014-05-01

192

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

Abstract 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

2014-09-20

193

[Münchausen syndrome by proxy].  

PubMed

Münchausen syndrome by proxy (also known as factitious disorder by proxy) is a psychiatric disorder which consists of fabricating or inducing illness in a child, usually by his mother. The motivation for the perpetrator's behavior is receivng satisfaction from the investigations and treatments that the child receives and from the medical environment, as part of a unique mental disturbance. External incentives for the behavior (such as economic gain) are absent. During the last few years about 20 cases of Münchausen syndrome by proxy were diagnosed in our ward. We describe a few less typical cases of patients with Münchausen syndrome by proxy. In all cases the offender, the mother, had only secondary education and no medical background. The socioeconomic background was variable. Recognition of the syndrome and a high index of clinical suspicion are needed in order to diagnose the disorder. Suspicious signs and symptoms include prolonged and illogical course of disease, odd complications, exacerbation that appear just before discharge from the hospital and symptoms that occur only in the presence of a specific care giver. Münchausen syndrome by proxy is not very rare. It appears in all ethnic groups, socioeconomic status and educational backgrounds. PMID:24416819

Scheuerman, Oded; Grinbaum, Iris; Garty, Ben Zion

2013-11-01

194

Adolescent polycystic ovary syndrome.  

PubMed

Polycystic ovary syndrome (PCOS) can be identified in the adolescent years but is a process with genetic and epigenetic origins. Intrauterine growth retardation and premature adrenarche may precede the presentation of hyperandrogenism and oligo/anovulation. Other causes of hyperandrogenism and ovulatory dysfunction must be ruled out before PCOS is diagnosed. Obesity and insulin resistance often are associated features and greatly increase a girl's risk of developing metabolic syndrome and type 2 diabetes mellitus. Oral contraceptives, metformin, antiandrogens, and lifestyle modifications can have roles in alleviating the symptoms of PCOS and are reviewed in this article. PMID:22764561

Connor, Ellen Lancon

2012-04-01

195

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; Joao, Alexandre

2013-01-01

196

Delayed diagnosis of Alport syndrome without hematuria.  

PubMed

Alport syndrome is a progressive hereditary disease caused by mutations in the genes encoding type IV collagen. Persistent microscopic hematuria is the hallmark of Alport syndrome, occurring in almost all boys according to previous reports. We report the case of a 20-year-old man presented with proteinuria but no hematuria that was initially misdiagnosed with refractory nephrotic syndrome and was eventually diagnosed with Alport syndrome following kidney and skin biopsy. During the follow-up period, he experienced a rapid progression to end-stage renal disease. Timely diagnosis of Alport syndrome is important, because patients may benefit from early intervention and avoid suffering from unnecessary nephrotoxic drug use. PMID:24878952

Yin-Yin, Chen; You-Ming, Peng; Yu-Mei, Liang

2014-05-01

197

Jacobsen syndrome  

PubMed Central

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

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

2009-01-01

198

[Papillon-Lefèvre syndrome: a case report].  

PubMed

Papillon-Lefèvre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by palmoplantar hyperkeratosis and a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. This article reported a boy who was diagnosed as having PLS. PMID:22332586

Chen, Yuanjiao; Ding, Yi; Liu, Minchuan

2011-12-01

199

Cytochrome oxidase deficiency in Lowe syndrome.  

PubMed

We report on a patient with complex IV deficiency who in later clinical course was diagnosed as a Lowe syndrome. Mitochondrial abnormalities can be present in Lowe syndrome and might lead to misdiagnosis, additionally because clinical features can be overlapping. PMID:12408191

Cifelli, P M; Hargreaves, I; Grünewald, S

2002-09-01

200

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

201

Mycoplasma blood infection in chronic fatigue and fibromyalgia syndromes  

Microsoft Academic Search

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

Gerhard K. M. Endresen

2003-01-01

202

Shaken-baby-Syndrom  

Microsoft Academic Search

Zusammenfassung  Das Shaken-baby-Syndrom (SBS) oder Schütteltrauma des Säuglings beschreibt die Koinzidenz subduraler Hämatome, retinaler Blutungen\\u000a und prognostisch ungünstiger, diffuser Hirnschäden durch heftiges Schütteln eines Säuglings. Die klinischen Symptome umfassen\\u000a Irritabilität, Trinkschwierigkeiten, Somnolenz, Apathie, zerebrale Krampfanfälle, Apnoe, Temperaturregulationsstörungen und\\u000a Erbrechen durch Hirndruck. Leichtere Symptome des SBS werden häufig nicht diagnostiziert, die Dunkelziffer ist wahrscheinlich\\u000a viel höher. Die Diagnose des SBS wird durch

W. Reith; T. Rohrer; F. Ahlhelm; P. Papanagiotou

2009-01-01

203

The silent sinus syndrome  

PubMed Central

The silent sinus syndrome (SSS) involves painless facial asymmetry and enophthalmos, which is the result of chronic maxillary sinus atelectasis. In most cases, it is diagnosed clinically, however, using the characteristic imaging features including maxillary sinus outlet obstruction, sinus opacification, and sinus volume loss caused by inward retraction of the sinus walls. Obstruction of the maxillary ostium appears to play a critical role in the development of SSS. Treatment involves functional endoscopic surgery. PMID:23946747

Sheikhi, Mahnaz; Jalalian, Faranak

2013-01-01

204

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

205

The silent sinus syndrome.  

PubMed

The silent sinus syndrome (SSS) involves painless facial asymmetry and enophthalmos, which is the result of chronic maxillary sinus atelectasis. In most cases, it is diagnosed clinically, however, using the characteristic imaging features including maxillary sinus outlet obstruction, sinus opacification, and sinus volume loss caused by inward retraction of the sinus walls. Obstruction of the maxillary ostium appears to play a critical role in the development of SSS. Treatment involves functional endoscopic surgery. PMID:23946747

Sheikhi, Mahnaz; Jalalian, Faranak

2013-03-01

206

CLINICAL SECTION Kabuki syndrome: a case report  

Microsoft Academic Search

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral\\/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese

Z. H. S. Lung; A. Rennie

207

Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome  

E-print Network

age of 45 (35 to 55) years. Diagnosis was based on (1) aborted SCD (6%); (2) syncope, otherwise.9% in patients with syncope, and 0.5% in asymptomatic patients. Symptoms and spontaneous type 1 ECG were

Boyer, Edmond

208

48, XXYY syndrome associated tremor.  

PubMed

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

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

2013-08-01

209

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 ...

210

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 ...

211

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 ...

212

Piriformis Syndrome  

MedlinePLUS

... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder ...

213

How Is Thyroid Cancer Diagnosed?  

MedlinePLUS

... by itself can’t diagnose thyroid cancer. After surgery for thyroid cancer , whole-body radioiodine scans are useful to look for possible spread throughout the body. These scans become even more sensitive if the ... been removed by surgery because more of the radioactive iodine is picked ...

214

Cornelia de Lange syndrome.  

PubMed

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects. PMID:22630109

Noor, Nida; Kazmi, Zehra; Mehnaz, Ayesha

2012-06-01

215

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

216

Apical ballooning syndrome (Takotsubo Syndrome): case report  

PubMed Central

Introduction The apical ballooning syndrome (ABS) is a single reversible cardiomyopathy often triggered by a stressful event. We aimed to present a case report regarding this disorder. Case presentation Here we present the case of a 77-year-old female hypertensive patient, sedentary and non-smoker, diagnosed with apical ballooning syndrome. We describe the clinical signs and symptoms, changes in markers of myocardial necrosis and changes in the electrocardiogram and coronary angiography. Conclusion The course of events patient showed clinical improvement with treatment and support was not necessary to administer specific medications or interventions to reverse the situation. After hemodynamic stabilization coronary angiography showed no obstructive lesions and left ventricle with akinesia of the apex and the middle portion of the left ventricle. PMID:23597307

2013-01-01

217

Coexisting primary Sjögren's syndrome and sarcoidosis: coincidence, mutually exclusive conditions or syndrome?  

PubMed

Herein, we describe a 44-year-old female diagnosed with histologically proven coexistence of primary Sjögren's syndrome and sarcoidosis with pulmonary and muscular involvement. The differential diagnosis may be difficult, but this is not an exceptional case, which highlights the need to critically revise the consideration of sarcoidosis as an exclusion for primary Sjögren's syndrome, as established in current classification criteria. PMID:24770372

Santiago, T; Santiago, M; Rovisco, J; Ferreira, J; Duarte, C; Malcata, A; Da Silva, J A P

2014-11-01

218

Co-Existing Carpal Tunnel Syndrome in Complex Regional Pain Syndrome After Hand Trauma  

Microsoft Academic Search

This study highlights the benefits of carpal tunnel release (CTR) in four patients presenting with complex regional pain syndrome (CRPS) after hand surgery who also had carpal tunnel syndrome (CTS) diagnosed clinically and by nerve conduction studies. Three of the patients underwent pre-and postoperative volumetric, circumference, grip strength and range of motion measurements. The Disabilities of the Arm, Shoulder and

S. M. Koh; F. Moate; D. Grinsell

2010-01-01

219

Diagnosing GORD in Respiratory Medicine  

PubMed Central

Gastroesophageal reflux disease (GORD) is increasing in prevalence and is highly associated with several lung diseases such as asthma and COPD. Current diagnostic methods are imperfect, being insensitive, non-specific, expensive, or invasive. An accurate diagnosis of GORD can aid effective treatment and have significant clinical impact. Novel methods such as exhaled breath condensate analysis and electronic nose technology have the potential to improve the accuracy of diagnosing GORD. PMID:21811465

Timms, Chris J.; Yates, Deborah H.; Thomas, Paul S.

2011-01-01

220

Schimmelpenning syndrome.  

PubMed

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

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

2013-10-01

221

Goldenhar's syndrome.  

PubMed

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

Feingold, M; Baum, J

1978-02-01

222

Guillain-Barré syndrome coexisting with pericarditis or nephrotic syndrome after influenza vaccination.  

PubMed

A 68-year-old woman and a 72-year-old man presented with distal weakness of the limbs and numbness following an influenza vaccination within 2 weeks. Moreover, Guillain-Barré syndrome (GBS) was diagnosed in two patients. Pericarditis was diagnosed in the first patient who also had precordial chest pain with referral to trapezius ridge, and nephrotic syndrome, was observed in the second patient who had leg edema and proteinuria. The relationship among GBS, pericarditis and nephrotic syndrome after an influenza vaccination is discussed. PMID:15003306

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

2004-03-01

223

Poland syndrome: rare presentation in two cases.  

PubMed

Poland syndrome was first described in 1840 by Alfred Poland while still a medical student and the other components of the syndrome were described at London Guy's Hospital following the dissection of a cadaver's hand, which had hypoplasia and syndactyly. The incidence of Poland syndrome has been reported to be 1 in 30,000 live births. In the present case report, two Poland syndrome patients with ipsilateral hypomastia and a reduction in the axillary/pectoral hairs diagnosed during adulthood are presented; one patient was affected on the left side and had widespread cafe au lait spots, and the other patient had respiratory dysfunction due to multiple rib anomalies. PMID:20927162

Gocmen, Hayrettin; Akkas, Yucel; Doganay, Selim

2010-08-27

224

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

225

Juvenile polyposis syndrome.  

PubMed

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

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

2011-11-28

226

Juvenile polyposis syndrome  

PubMed Central

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

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

2011-01-01

227

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

228

How Are Obesity and Overweight Diagnosed?  

MedlinePLUS

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

229

How Is Alpha-1 Antitrypsin Deficiency Diagnosed?  

MedlinePLUS

... from the NHLBI on Twitter. How Is Alpha-1 Antitrypsin Deficiency Diagnosed? Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you ... how severe it is. Rate This Content: Alpha-1 Antitrypsin Deficiency Clinical Trials Clinical trials are research ...

230

Relationship between family communication and comorbid diagnoses in youths diagnosed with a bipolar disorder.  

E-print Network

??Research regarding the relationship between family communication and comorbid diagnoses in youths diagnosed with Bipolar Disorders is scarce. Existing research supports the importance of family… (more)

Caito, Nancy Buccilli

2012-01-01

231

Unsuspected costo-vertebral fractures demonstrated by bone scanning in the child abuse syndrome  

Microsoft Academic Search

Many patterns of injury have been described in the child abuse syndrome. Until recently, all the bone manifestations of this syndrome have been diagnosed radiologically. Four cases of multiple costovertebral fracture diagnosed by bone scan are described and their etiology discussed. The use of bone scanning in identifying fractures which previously would have been missed is advocated.

F. W. Smith; D. L. Gilday; J. M. Ash; M. D. Green

1980-01-01

232

Genetics Home Reference: Megalencephaly-capillary malformation syndrome  

MedlinePLUS

... Registry: Megalencephaly cutis marmorata telangiectatica congenita M-CM Network: How is M-CM Diagnosed? You might also find information on the diagnosis or management of megalencephaly-capillary malformation syndrome in Educational resources ...

233

Handicapping Conditions Associated with the Congenital Rubella Syndrome.  

ERIC Educational Resources Information Center

The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

Vernon, McCay; And Others

1980-01-01

234

[Alariosis--newly diagnosed trematodiasis].  

PubMed

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

Wasiluk, Alicja

2009-01-01

235

Diagnosing dementia: No easy job  

PubMed Central

Background From both clinical experience and research we learned that in complex progressive disorders such as dementia, diagnosis includes multiple steps, each with their own clinical and research characteristics. Discussion Diagnosing starts with a trigger phase in which the GP gradually realizes that dementia may be emerging. This is followed by a disease-oriented diagnosis and subsequently a care -oriented diagnosis. In parallel the GP should consider the consequences of this process for the caregiver and the interaction between both. As soon as a comprehensive diagnosis and care plan are available, monitoring follows. Summary We propose to split the diagnostic process into four diagnostic steps, followed by a monitoring phase. We recommend to include these steps when designing studies on screening, diagnosis and monitoring of patients with dementia and their families. PMID:21707988

2011-01-01

236

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. ...

237

Klinefelter syndrome  

MedlinePLUS

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

238

Sjogren's Syndrome  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations Additional resources from MedlinePlus What is Sjögren's Syndrome? Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce ...

239

Paraneoplastic Syndromes  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations What are Paraneoplastic Syndromes? Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as ...

240

Sjögren's Syndrome  

MedlinePLUS

... syndrome sometimes develops as a complication of another autoimmune disorder. Symptoms vary in type and intensity, but many ... syndrome is not known, but it is an autoimmune disorder. People with this disease have abnormal proteins in ...

241

Asperger Syndrome  

MedlinePLUS

... is Asperger syndrome? Asperger syndrome (AS) is an autism spectrum disorder (ASD), one of a distinct group ... and stereotyped patterns of behavior. Other ASDs include autistic disorder, childhood disintegrative disorder, and pervasive developmental disorder not ...

242

[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

243

[Mallory-Weiss syndrome].  

PubMed

The 18-years experience of the clinic is presented with diagnosis and curative tactics for the Mallory-Weiss syndrome which was observed in 65 (4.7%) of 1392 patients with acute gastroduodenal hemorrhages. Urgent esophagogastroduodenoscopy has improved diagnostics during the recent 5 years which resulted in 10% increased diagnosing of the Mallory-Weiss syndrome in gastroduodenal hemorrhage from the total amount of such patients. Before introducing of endoscopic hemostasis with Ferakryl into clinic 4 of 24 patients were operated on and 20 patients were treated by conservative hemostatic methods. Four patients died: 2 after operations and 2 after the conservative treatment. Complex conservative treatment with curative endoscopy and Ferakryl used in the clinic during the recent 2.5 years resulted in stable hemostasis in all the 41 patients without lethal outcomes. PMID:3727292

Pinski?, S B; Ageenko, V A; Bregel', A I

1986-03-01

244

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

245

Metabolic Syndrome  

MedlinePLUS

... metabolic syndrome fact sheet hOW is the metAbOlic syndrOme treAted? Increasing physical activity and losing weight are the best ways to begin to manage your condition. Medications can also treat risk factors such as ... factors for the metabolic syndrome, talk with your doctor. Your doctor can run ...

246

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 ...

247

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. ...

248

Apert syndrome with omphalocele: A case report.  

PubMed

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. Birth Defects Research (Part A), 100:726-729, 2014. © 2014 Wiley Periodicals, Inc. PMID:25045033

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

2014-09-01

249

Munchausen Syndrome as Dermatitis Simulata  

PubMed Central

Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome. PMID:22661819

Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

2012-01-01

250

Munchausen syndrome as dermatitis simulata.  

PubMed

Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome. PMID:22661819

Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

2012-01-01

251

Primary immunodeficiency diagnosed at autopsy: a case report  

PubMed Central

Background DiGeorge syndrome may manifest as severe immunodeficiency diagnosed at infancy. The diagnosis of primary immunodeficiency is based on characteristic clinical features, immunophenotyping by flow cytometry, molecular diagnostics and functional lymphocyte evaluation. At autopsy, gross evaluation, conventional histology and immunohistochemistry may be useful for the diagnosis of primary immunodeficiency. This case report illustrates the application of autopsy and immunohistochemistry in the diagnosis of DiGeorge syndrome. Case presentation A four-month-old African female infant died while undergoing treatment at Kenyatta National Hospital, a Referral and Teaching Hospital in Nairobi, Kenya. She presented with a month’s history of recurrent respiratory infections, a subsequent decline in the level of consciousness and succumbed to her illness within four days. Her two older siblings died following similar circumstances at ages 3 and 5 months respectively. Autopsy revealed thymic aplasia, bronchopneumonia and invasive brain infection by Aspergillus species. Microbial cultures of cerebrospinal fluid, jejunal contents, spleen and lung tissue revealed multi drug resistant Klebsiella spp, Pseudomonas spp, Serratia spp and Escherichia coli. Immunohistochemistry of splenic tissue obtained from autopsy confirmed reduction of T lymphocytes. Conclusion Use of immunohistochemistry on histological sections of tissues derived from autopsy is a useful adjunct for post mortem diagnosis of DiGeorge syndrome. PMID:24996427

2014-01-01

252

Splenic torsion and the prune belly syndrome  

Microsoft Academic Search

Torsion of the spleen is rare, difficult to diagnose, and potentially life-threatening. The simultaneous occurrence of splenic torsion and the prune belly syndrome has been reported only twice in the literature. We report the clinical findings, treatment, and follow-up in a 9-year-old boy with typical features of the prune belly syndrome in whom surgical exploration of the abdomen revealed torsion

Hossein Aliabadi; John Foker; Ricardo Gonzalez

1987-01-01

253

Cornelia de Lange Syndrome: A Recognizable Fetal Phenotype  

Microsoft Academic Search

We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the second trimester of pregnancy. Postnatal magnetic resonance imaging confirmed the prenatal findings, and the presence of the typical dysmorphic features led to

F. A. Wilmink; D. N. M. Papatsonis; E. W. M. Grijseels; M. W. Wessels

2009-01-01

254

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

255

Discovery Lecturer offers Rett syndrome insights BY: LEIGH MACMILLAN  

E-print Network

, hand use and language skills. A week later, Zoghbi saw another patient, a girl diagnosed with cerebral palsy, who was wringing her hands and had other symptoms of Rett syndrome. "At that time no one had seen Genetics that mutations in the gene methyl-CpG-binding protein 2 gene (MECP2) cause Rett syndrome

Palmeri, Thomas

256

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

257

Cognitive Behaviour Therapy for Children and Adults with Asperger's Syndrome  

Microsoft Academic Search

Asperger's syndrome is a relatively newly diagnosed developmental disorder within the autistic spectrum. Children and adults with Asperger's syndrome have an intellectual ability within the normal range but due to their unusual profile of cognitive, social and emotional abilities are vulnerable to the development of a secondary mood disorder. This paper provides an explanation of the abilities associated with Asperger's

Tony Attwood

2004-01-01

258

A case of autism in a child with Apert's syndrome  

Microsoft Academic Search

.   We present the case of a 7-year-old child with Aspert's syndrome who was diagnosed as suffering from childhood autism. As\\u000a far as we are aware this is the first described association between autism and acrocephalosyndactyly syndromes. We discuss\\u000a issues regarding the diagnosis and co-morbidity of the autistic spectrum disorders.

Jaime Morey-Canellas; U. Sivagamasundari; Hilary Barton

2003-01-01

259

Treatment of Miescher's cheilitis granulomatosa in Melkersson-Rosenthal syndrome.  

PubMed

Cheilitis granulomatosa is the most frequent dermatological sign in the Melkersson-Rosenthal syndrome. We reviewed 27 cases of this syndrome diagnosed and treated in the last 20 years. All the patients were surgically treated and received intralesional corticosteroids during surgery and tetracycline hydrochloride (500 mg, twice daily) after the operation to prevent recurrence. PMID:11843214

Camacho, F; García-Bravo, B; Carrizosa, A

2001-11-01

260

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

261

Quadriceps femoris muscle activity in patellofemoral pain syndrome  

Microsoft Academic Search

To elucidate and attempt to dissociate the two mech anisms, neuromuscular and mechanical, underlying pa tellofemoral pain syndrome, 18 subjects, divided into two groups based on a diagnosis of patellofemoral pain syndrome and the knee Q angle, were studied. The control group was asymptomatic and exhibited a nor mal Q angle (mean, 8.25°), whereas the other group, diagnosed as patellofemoral

Jean P. Boucher; Marjorie A. King; Richard Lefebvre; André Pépin

1992-01-01

262

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

263

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

PubMed Central

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

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

2010-01-01

264

Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study  

Microsoft Academic Search

Context: Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s). There is limited information about long-term mortality in this syn- drome because there have been no large cohort studies. Objective: Our objective was to investigate mortality in men with Klinefelter syndrome. Design and Setting: We obtained data about patients diagnosed with Klinefelter syndrome

Anthony J. Swerdlow; Craig D. Higgins; Minouk J. Schoemaker; Alan F. Wright; Patricia A. Jacobs

2010-01-01

265

Serotonin Syndrome  

PubMed Central

Background Serotonin syndrome is a potentially life-threatening syndrome that is precipitated by the use of serotonergic drugs and overactivation of both the peripheral and central postsynaptic 5HT-1A and, most notably, 5HT-2A receptors. This syndrome consists of a combination of mental status changes, neuromuscular hyperactivity, and autonomic hyperactivity. Serotonin syndrome can occur via the therapeutic use of serotonergic drugs alone, an intentional overdose of serotonergic drugs, or classically, as a result of a complex drug interaction between two serotonergic drugs that work by different mechanisms. A multitude of drug combinations can result in serotonin syndrome. Methods This review describes the presentation and management of serotonin syndrome and discusses the drugs and interactions that can precipitate this syndrome with the goal of making physicians more alert and aware of this potentially fatal yet preventable syndrome. Conclusion Many commonly used medications have proven to be the culprits of serotonin syndrome. Proper education and awareness about serotonin syndrome will improve the accuracy of diagnosis and promote the institution of the appropriate treatment that may prevent significant morbidity and mortality. PMID:24358002

Volpi-Abadie, Jacqueline; Kaye, Adam M.; Kaye, Alan David

2013-01-01

266

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

267

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes  

Microsoft Academic Search

Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases\\u000a and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping\\u000a syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or\\u000a JPS is diagnosed, as early recognition of

Erica D. Poletto; Angela M. Trinh; Terry L. Levin; Anthony M. Loizides

2010-01-01

268

Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.  

PubMed

Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome. PMID:24458945

Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

2014-03-01

269

Colonic diverticulitis in adolescents: an index case and associated syndromes  

Microsoft Academic Search

Diverticular disease of the colon, a common problem among adults, is diagnosed rarely in children. We report an adolescent\\u000a patient with sigmoid diverticulitis who required operative treatment. Pediatric patients with the complications of diverticula\\u000a typically have conditions that result in genetic alterations affecting the components of the colonic wall. Our patient had\\u000a Williams–Beuren syndrome, although Ehlers–Danlos syndrome, Marfan syndrome, and

Brian J. Santin; Vinay Prasad; Donna A. Caniano

2009-01-01

270

Down's syndrome.  

PubMed

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world. PMID:12699967

Roizen, Nancy J; Patterson, David

2003-04-12

271

Apert's syndrome: Report of a rare case  

PubMed Central

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

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

2013-01-01

272

Symptomatic Morgagni Hernia Misdiagnosed As Chilaiditi Syndrome  

PubMed Central

Chilaiditi syndrome, symptomatic interposition of bowel beneath the right hemidiaphragm, is uncommon and usually managed without surgery. Morgagni hernia is an uncommon diaphragmatic hernia that generally requires surgery. In this case a patient with a longstanding diagnosis of bowel interposition (Chilaiditi sign) presented with presumed Chilaiditi syndrome. Abdominal computed tomography was performed and revealed no bowel interposition; instead, a Morgagni hernia was found and surgically repaired. Review of the literature did not reveal similar misdiagnosis or recommendations for advanced imaging in patients with Chilaiditi sign or syndrome to confirm the diagnosis or rule out other potential diagnoses. PMID:21691487

Vallee, Phyllis A.

2011-01-01

273

[Multicystic lung revealing a Sjogren's syndrome].  

PubMed

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

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

2012-08-01

274

[Susac syndrome, retinocochleocerebral microangiopathy: contribution of MRI].  

PubMed

This is a new case of Susac syndrome in a 27-year-old woman with polymorphic neurological disorders, her brain MRI showed multifocal hyperintense signals on T2-weighted images with possible effects on the corpus callosum. However, visualization of an occlusion in the retinal arterial branch of the right eye and hypoacusia on the right side allowed confirmation of the diagnosis. In this case report, we describe the imaging aspects of Susac syndrome and demonstrate that brain MRI allows the syndrome to be diagnosed at an early stage. PMID:19403172

Le Moigne, F; Lamboley, J-L; Vitry, T; El Chehab, H; Guilloton, L; Drouet, A; Salamand, P; Felten, D

2009-12-01

275

Aicardi syndrome.  

PubMed

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

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

2012-07-01

276

Barth syndrome  

PubMed Central

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

2013-01-01

277

Barth syndrome.  

PubMed

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819

Clarke, Sarah L N; Bowron, Ann; Gonzalez, Iris L; Groves, Sarah J; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M; McCurdy, Katherine R; Damin, Michaela K; Spencer, Carolyn T; Toth, Matthew J; Kelley, Richard I; Steward, Colin G

2013-01-01

278

[Kounis syndrome].  

PubMed

Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, insect stings, food, environmental exposures and medical conditions, among other factors. The incidence is not known, as most of the available information comes from case reports or small case series. In this article, the clinical aspects, diagnosis, pathogenesis, related conditions and therapeutic management of the syndrome are discussed. PMID:22154226

Rico Cepeda, P; Palencia Herrejón, E; Rodríguez Aguirregabiria, M M

2012-01-01

279

How Is a Heart Attack Diagnosed?  

MedlinePLUS

... from the NHLBI on Twitter. How Is a Heart Attack Diagnosed? Your doctor will diagnose a heart attack based on your signs and symptoms , your medical ... CHD) and signs of a previous or current heart attack. Blood Tests During a heart attack, heart muscle ...

280

Associations between hemorrhoids and other diagnoses  

Microsoft Academic Search

PURPOSE: The risk factors and mechanisms that contribute to the occurrence of hemorrhoids are not well understood. The study of the comorbid occurrences of hemorrhoids with other diagnoses in identical patients may point to a common underlying pathophysiology. The present study was undertaken to determine which diagnoses are associated with the occurrence of hemorrhoids. METHODS: A case-control study compared the

Fabiola Delcò; Amnon Sonnenberg

1998-01-01

281

Management of cervical carcinoma diagnosed during pregnancy  

Microsoft Academic Search

Pelvic malignancy complicating pregnancy poses a difficult management problem. Survival of the patient is the foremost concern, but fetal viability and well-being are also factors that have to be addressed in these cases. Cervical cancer is rarely diagnosed during pregnancy, but is still the most commonly diagnosed malignancy in pregnancy. Because of the relative infrequency of this condition, guidelines for

Ram Eitan; Nadeem R Abu-Rustum

2003-01-01

282

Mapping the x-linked lymphoproliferative syndrome  

SciTech Connect

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

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

1987-04-01

283

The upper airway in Weaver syndrome.  

PubMed

Weaver syndrome is a rare disorder of unknown etiology characterized by skeletal overgrowth, distinctive craniofacial and digital abnormalities, and advanced bone age. The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and an anterior and cephalad position of the larynx. In this report, the authors describe their experience with two children diagnosed with Weaver syndrome who presented for dental surgery. Contrary to previous reports, tracheal intubation was accomplished with relative ease, suggesting that difficulty in intubation in Weaver syndrome may be age-related, diminishing with advancing age and growth of the mandible, as has been reported for other micrognathic syndromes such as Pierre Robin sequence. PMID:16176320

Crawford, Mark W; Rohan, Denise

2005-10-01

284

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

285

Language Skills of Adolescents with Tourette Syndrome  

ERIC Educational Resources Information Center

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

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

2005-01-01

286

Association of hiatus hernia with asplenia syndrome  

Microsoft Academic Search

During a 13-month period, 13 patients with asplenia syndrome were evaluated with MRI for cardiovascular and visceral anomalies. The MR images were reviewed for the presence of hiatus hernia which was found in three patients. One of the remaining ten patients with no MRI evidence of hiatus hernia was diagnosed as having gastro-oesophageal reflux and hiatus hernia by an oesophagogram

J.-K. Wang; M.-H. Chang; Y.-W. Li; W.-J. Chen; H.-C. Lue

1993-01-01

287

Ehlers Danlos Syndrome - A Case Report  

PubMed Central

Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings. PMID:24783151

Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra

2014-01-01

288

The problem of Gulf War syndrome  

Microsoft Academic Search

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

R. Ferrari; A. S. Russell

2001-01-01

289

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

290

Ehlers danlos syndrome - a case report.  

PubMed

Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings. PMID:24783151

Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra

2014-03-01

291

Treacher Collins syndrome: etiology, pathogenesis and prevention  

Microsoft Academic Search

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and\\/or repair of TCS depends on a profound appreciation of

Paul A Trainor; Jill Dixon; Michael J Dixon; PA Trainor

2009-01-01

292

Hunter's Syndrome: Description and Educational Considerations.  

ERIC Educational Resources Information Center

This paper describes characteristics of and educational implications for children with Hunter's syndrome, a rare, genetic lysomal storage disorder resulting from an absence of the enzyme iduronate-2-sulphatase. Boys born with this sex-linked disease are born with little or no clinical manifestations, but generally are diagnosed by the age of three…

Naggs, Teresa

293

Wolf syndrome  

Microsoft Academic Search

Since the initial description in 1965 of Wolf syndrome, or deletion of the short arm of chromosome number four, over one hundred cases have been reported. Much less, however, has been published on the radiologic findings in this disorder. We report a case with both typical and unusual features of the 4p- syndrome, including “bottle opener” deformity of the clavicles,

D. S. Katz; T. H. Smith

1991-01-01

294

Joubert Syndrome  

MedlinePLUS

... our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting. ...

295

Barth syndrome  

Microsoft Academic Search

Key words Disease name and synonyms Definition\\/diagnostic criteria Epidemiology Abstract Barth syndrome is a metabolic disorder characterized by a cardiomyopathy of the dilated type, more rarely of the hypertrophic type, neutropenia, skeletal myopathy, diminished statural growth and 3-methylglutaconicaciduria. However the clinical presentation can be of variable expression. The disease can be slowly progressive or sudden. In most cases, Barth syndrome

Pascale de Lonlay; Dimitri Schlemmer; Paola Melacini

296

Stroke Syndromes  

Microsoft Academic Search

We gave a short overview of the most important stroke syndromes in the clinical setting. Knowledge of these syndromes helps\\u000a to understand the complex pathophysiology of cerebral ischemia. Combination of clinical findings with the data from the new\\u000a and evolving imaging techniques certainly facilitates and improves care for stroke patients.

Georg Gahn

297

Pfeiffer syndrome  

Microsoft Academic Search

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1

Annick Vogels; Jean-Pierre Fryns

2006-01-01

298

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 Junior, Ismael Alves; Gresta, Leticia Trivellato; Cruz, Rafaela Carolina; Carvalho, Giselly Gomes; Moreira, Melissa Heringer Chamon Barros Quintao

2013-01-01

299

Hepatorenal Syndrome  

Microsoft Academic Search

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

Mónica Guevara; Pere Ginès

2005-01-01

300

KBG syndrome  

Microsoft Academic Search

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and

Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola

2006-01-01

301

Marfan Syndrome  

MedlinePLUS

... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

302

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

303

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

304

Non-epileptic clinical diagnoses in children referred for an outpatient EEG using video monitoring.  

PubMed

Simultaneous video (closed circuit television [CCTV]) and EEG recordings are important in the differentiation of epileptic and non-epileptic paroxysmal episodes and in the classification of epilepsy syndromes. An additional benefit from the observation of the child on CCTV is the possible identification of specific clinical, including genetic, conditions. This three-year prospective study of 2780 consecutive children undergoing routine EEG investigations identified 17 conditions that had not previously been diagnosed by the clinicians who had requested the EEG. PMID:16793578

Apakama, Okwuchi; Appleton, Richard

2006-06-01

305

Pediatric AIDS-Related Discharges in a Sample of U.S. Hospitals: Demographics, Diagnoses, and Resource Use.  

National Technical Information Service (NTIS)

The paper describes care provided to children with acquired immunodeficiency syndrome (AIDS) in U.S. hospitals, based on 196 pediatric discharges with AIDS-related diagnoses in 1986-1987, using data from the Hospital Cost and Utilization Project (HCUP). H...

J. K. Ball, S. Thaul

1992-01-01

306

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

307

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

308

American College of Medical Genetics and Genomics Commentary We are the fathers of two patients with a newly diagnosed  

E-print Network

social media. The very speed with which Need et al.2 and Enns et al.1 were published suggests a new model by tools already created for and by the Internet and social media. To illustrate our point, six with a newly diagnosed syndrome that is highlighted in the study by Enns et al.1 Our children are two among

Might, Matt

309

Papillon- Lefèvre Syndrome: Report of a case and its management.  

PubMed

Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth at a very young age. The cutaneous lesions are usually manifested simultaneously with the intra-oral presentations and include keratotic plaques on the palms and soles varying from mild psoriasiform scaly skin to overt hyperkeratosis. The etiopathogenesis of the syndrome is relatively obscure and immunologic, genetic or possible bacterial etiologies have been proposed. Due to the vast degree of periodontal breakdown involved at such an early age, the dental surgeon is often the first to diagnose the syndrome. This paper presents a clinical presentation a 15 year old male diagnosed with Papillon- Lefèvre Syndrome. Key words:Papillon-Lefèvre Syndrome, palmoplantar keratoderma, rapidly progressing periodontitis. PMID:24558530

Sachdeva, Shabina; Kalra, Namita; Kapoor, Pranav

2012-02-01

310

How Is Sickle Cell Anemia Diagnosed?  

MedlinePLUS

... the NHLBI on Twitter. How Is Sickle Cell Anemia Diagnosed? A simple blood test, done at any ... States, all States mandate testing for sickle cell anemia as part of their newborn screening programs. The ...

311

Neuroblastoma in Children: Just Diagnosed Information  

MedlinePLUS

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

312

Using Neural Networks in Diagnosing Breast Cancer.  

National Technical Information Service (NTIS)

Computational methods can be used to provide a second opinion in medical settings and may improve the sensitivity and specificity of diagnoses. In the current study, evolutionary programming is used to train neural networks and linear discriminant models ...

D. Fogel

1997-01-01

313

How Are Overweight and Obesity Diagnosed?  

MedlinePLUS

... the NHLBI on Twitter. How Are Overweight and Obesity Diagnosed? The most common way to find out ... or stress. Rate This Content: Next >> Featured Video Obesity happens one pound at a time. So does ...

314

Coping When You're Newly Diagnosed  

MedlinePLUS

... International PH News and Projects Let Me Breathe Music Video PATIENTS Patients Newly Diagnosed Request an Envelope ... International PH News and Projects Let Me Breathe Music Video Help spread PH awareness and share PH ...

315

Diagnosing Diabetes and Learning about Prediabetes  

MedlinePLUS

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

316

How Is Chronic Myeloid Leukemia Diagnosed?  

MedlinePLUS

... chronic myeloid leukemia classified? How is chronic myeloid leukemia diagnosed? Many people with CML do not have ... of samples used to test for chronic myeloid leukemia If signs and symptoms suggest you may have ...

317

Hemihyperplasia syndromes  

Microsoft Academic Search

Obective  Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion\\u000a regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia\\u000a syndromes.\\u000a \\u000a \\u000a \\u000a Methods  Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available\\u000a literature and diagnostic criteria.\\u000a \\u000a \\u000a \\u000a Results  Of the 17

Ashwin B. Dalal; Shubha R. Phadke; Mandakini Pradhan; Sheetal Sharda

2006-01-01

318

Hypoplastic left heart syndrome: parent support for early decision making.  

PubMed

Hypoplastic left heart syndrome is a life threatening congenital cardiac anomaly. After a child has been diagnosed with hypoplastic left heart syndrome, parents must make life or death decisions within days of birth. Healthcare providers must provide appropriate education so that parents are able to make informed, timely decisions. Information regarding the diagnosis, treatment options, and parental decision making process for initial decision making for hypoplastic left heart syndrome are provided to guide nurses who work with these families. The challenging decision making process that parents must go through after diagnosis of hypoplastic left heart syndrome will be described. PMID:23246301

Toebbe, Sarah; Yehle, Karen; Kirkpatrick, Jane; Coddington, Jennifer

2013-01-01

319

Hemophagocytic syndrome in severe dengue Fever: a rare presentation.  

PubMed

We describe a 2-year old boy developing virus-associated hemophagocytic syndrome in severe dengue fever. The condition was diagnosed according to the established criteria of the International Histiocyte Society. There was uneventful recovery with corticosteroid therapy. Secondary hemophagocytosis in children can mimic severe sepsis, systemic inflammatory response syndrome, or multi organ dysfunction syndrome and lead to diagnostic difficulties. This report adds to the limited pediatric cases of dengue related hemophagocytic syndrome reported in literature; and underlines the importance of prompt diagnosis and appropriate treatment of this rare but serious complication. PMID:25332549

Mitra, Subhashis; Bhattacharyya, Rajat

2014-09-01

320

Clinical presentation of Churg-Strauss syndrome in children  

PubMed Central

Churg–Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg–Strauss syndrome. The propositus included, 50 cases of childhood Churg–Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg–Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome.

Razenberg, Femke G.E.M.; Heynens, Jan W.C.M.; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C.; de Blic, Jacques; Rosias, Philippe P.R.

2012-01-01

321

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

PubMed

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

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

2013-02-01

322

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

323

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

324

[Munchausen's syndrome: a factitious disorder? A case report].  

PubMed

Munchausen's syndrome is classified as a chronic factitious disorder with predominant physical signs and symptoms. Several symptoms are specific to this disorder, such as travelling and pseudologia fantastica. Others symptoms, such as multiple physical complaints with no organic substrate, are shared with somatoform disorders. We report a case showing how difficult it is to diagnose a Munchausen syndrome. We discuss also the opportunity to classify such a syndrome as a factitious disorder. Indeed, several authors suggest classifying Munchausen syndrome as a subtype of somatoform disorders, as those two disorders share a lot of characteristics. PMID:24505869

Reich, E; Kajosh, H; Verbanck, P; Kornreich, C

2013-01-01

325

Asperger syndrome  

MedlinePLUS

... may also be diagnosed with attention deficit hyperactivity disorder (ADHD). Anxiety or depression may develop during adolescence and young adulthood. Symptoms of obsessive-compulsive disorder and a tic disorder ...

326

[Autoinflammatory syndromes/fever syndromes].  

PubMed

Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

2011-05-01

327

Radiation-induced moyamoya syndrome  

SciTech Connect

Purpose: The moyamoya syndrome is an uncommon late complication after radiotherapy (RT). Methods and Materials: A PubMed search of English-language articles, with radiation, radiotherapy, and moyamoya syndrome used as search key words, yielded 33 articles from 1967 to 2002. Results: The series included 54 patients with a median age at initial RT of 3.8 years (range, 0.4 to 47). Age at RT was less than 5 years in 56.3%, 5 to 10 years in 22.9%, 11 to 20 years in 8.3%, 21 to 30 years in 6.3%, 31 to 40 years in 2.1%, and 41 to 50 years in 4.2%. Fourteen of 54 patients (25.9%) were diagnosed with neurofibromatosis type 1 (NF-1). The most common tumor treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were optic-pathway glioma. The average RT dose was 46.5 Gy (range, 22-120 Gy). For NF-1-positive patients, the average RT dose was 46.5 Gy, and for NF-1-negative patients, it was 58.1 Gy. The median latent period for development of moyamoya syndrome was 40 months after RT (range, 4-240). Radiation-induced moyamoya syndrome occurred in 27.7% of patients by 2 years, 53.2% of patients by 4 years, 74.5% of patients by 6 years, and 95.7% of patients by 12 years after RT. Conclusions: Patients who received RT to the parasellar region at a young age (<5 years) are the most susceptible to moyamoya syndrome. The incidence for moyamoya syndrome continues to increase with time, with half of cases occurring within 4 years of RT and 95% of cases occurring within 12 years. Patients with NF-1 have a lower radiation-dose threshold for development of moyamoya syndrome.

Desai, Snehal S. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States); Paulino, Arnold C. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States)]. E-mail: apaulino@tmh.tmc.edu; Mai, Wei Y. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States); Teh, Bin S. [Department of Radiology, Division of Radiation Oncology, Baylor College of Medicine, Methodist Hospital, Houston, TX (United States)

2006-07-15

328

Serotonin syndrome  

MedlinePLUS

... medicine). Drugs of abuse, such as ecstasy and LSD have also been associated with serotonin syndrome. ... Always tell all of your healthcare providers what medicines you take. ... especially right after starting a medicine or increasing ...

329

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. ...

330

Bloom's Syndrome  

MedlinePLUS

... a high incidence of breaks in an individual’s chromosomes. The most serious manifestations of this condition are ... the symptoms of this disorder may recommend specialized chromosome testing or testing of the Bloom’s syndrome gene. ...

331

Down Syndrome  

MedlinePLUS

... the key to healthier, happier, more independent lives. Chromosomes Are the Cause To understand why Down syndrome happens, you need to understand a little about chromosomes. What are chromosomes? They're thread-like structures ...

332

Hunter syndrome  

MedlinePLUS

Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.

333

Aicardi Syndrome  

MedlinePLUS

... encephalopathy that affects newborn infants. ) Is there any treatment? There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and ...

334

Apert syndrome  

MedlinePLUS

... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... face Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

335

Levator Syndrome  

MedlinePLUS

... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse Merck ... exclude other painful rectal conditions (such as thrombosed hemorrhoids, fissures, or abscesses). The physical examination is often ...

336

Ohtahara Syndrome  

MedlinePLUS

... Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first ... first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also ...

337

Williams Syndrome  

MedlinePLUS

... cognitive, personality, and neurological characteristics of WS. NIH Patient Recruitment for Williams Syndrome Clinical Trials At NIH ... on the treatment or care of an individual patient should be obtained through consultation with a physician ...

338

Marfan syndrome.  

PubMed

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

Jain, Eesha; Pandey, Ramesh Kumar

2013-01-01

339

Isaac's Syndrome  

MedlinePLUS

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

340

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 ...

341

Sheehan syndrome  

MedlinePLUS

... occur in a woman who bleeds severely during childbirth. Sheehan syndrome is a type of hypopituitarism . ... Severe bleeding during childbirth can result in tissue death in the pituitary gland. This causes the gland to lose its ability to work ...

342

Down Syndrome  

MedlinePLUS

... help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

343

CHARGE syndrome  

Microsoft Academic Search

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

Kim D Blake; Chitra Prasad

2006-01-01

344

[Kabuki syndrome].  

PubMed

Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome. PMID:7651720

Stankovics, J

1995-08-20

345

Metabolic Syndrome  

Microsoft Academic Search

“Metabolic syndrome” refers to the phenomenon of risk factor clustering and is presumed to reflect a unifying underlying pathophysiology.\\u000a Clustering commonly occurs in the setting of obesity, insulin resistance and a sedentary lifestyle. Currently there are five\\u000a different criteria for metabolic syndrome, all of which are associated with increased risk of diabetes or cardiovascular disease.\\u000a Therapeutic lifestyle change that focuses

James B. Meigs

346

Jacobsen syndrome  

Microsoft Academic Search

Jacobsen syndrome is a MCA\\/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1\\/100,000 births, with a female\\/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities,

Teresa Mattina; Concetta Simona Perrotta; Paul Grossfeld

2009-01-01

347

Neuroleptic Malignant Syndrome  

PubMed Central

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

Berman, Brian D.

2011-01-01

348

Obesity hypoventilation syndrome  

PubMed Central

Obesity is becoming a major medical concern in several parts of the world, with huge economic impacts on health- care systems, resulting mainly from increased cardiovascular risks. At the same time, obesity leads to a number of sleep-disordered breathing patterns like obstructive sleep apnea and obesity hypoventilation syndrome (OHS), leading to increased morbidity and mortality with reduced quality of life. OHS is distinct from other sleep- related breathing disorders although overlap may exist. OHS patients may have obstructive sleep apnea/hypopnea with hypercapnia and sleep hypoventilation, or an isolated sleep hypoventilation. Despite its major impact on health, this disorder is under-recognized and under-diagnosed. Available management options include aggressive weight reduction, oxygen therapy and using positive airway pressure techniques. In this review, we will go over the epidemiology, pathophysiology, presentation and diagnosis and management of OHS. PMID:19561923

Al Dabal, Laila; BaHammam, Ahmed S.

2009-01-01

349

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

350

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 ...

351

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 ...

352

Angelman Syndrome Foundation  

MedlinePLUS

... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment 50% of individuals with Angelman syndrome are originally ... Syndrome Clinics Newsletter Privacy Policy Transparency Honoring Your Investment Angelman Syndrome Foundation, Inc. (800-432-6435) 75 ...

353

Features of ovarian cancer in Lynch syndrome (Review)  

PubMed Central

Lynch syndrome is a hereditary ovarian cancer with a prevalence of 0.9–2.7%. Lynch syndrome accounts for 10–15% of hereditary ovarian cancers, while hereditary breast and ovarian cancer syndrome accounts for 65–75% of these cancers. The lifetime risk for ovarian cancer in families with Lynch syndrome is ~8%, which is lower than colorectal and endometrial cancers, and ovarian cancer is not listed in the Amsterdam Criteria II. More than half of sporadic ovarian cancers are diagnosed in stage III or IV, but ?80% of ovarian cancers in Lynch syndrome are diagnosed in stage I or II. Ovarian cancers in Lynch syndrome mostly have non-serous histology and different properties from those of sporadic ovarian cancers. A screening method for ovarian cancers in Lynch syndrome has yet to be established and clinical studies of prophylactic administration of oral contraceptives are not available. However, molecular profiles at the genetic level indicate that ovarian cancer in Lynch syndrome has a more favorable prognosis than sporadic ovarian cancer. Inhibitors of the phosphatidylinositol 3-kinase/mammalian target of the rapamycin pathway and anti-epidermal growth factor antibodies may have efficacy for the disease. To the best of our knowledge, this is the first review focusing on ovarian cancer in Lynch syndrome.

NAKAMURA, KANAKO; BANNO, KOUJI; YANOKURA, MEGUMI; IIDA, MIHO; ADACHI, MASATAKA; MASUDA, KENTA; UEKI, ARISA; KOBAYASHI, YUSUKE; NOMURA, HIROYUKI; HIRASAWA, AKIRA; TOMINAGA, EIICHIRO; AOKI, DAISUKE

2014-01-01

354

[Normotensive HELLP syndrome: report of one case].  

PubMed

HELLP syndrome (hemolysis, elevated liver enzymes and low platelets) represents a severe form of preeclampsia associated with serious maternal and fetal morbidities and even death. Usually HELLP syndrome appears during the evolution of a severe preeclampsia; however HELLP syndrome can have atypical clinical manifestations. We report a 22-year-old female who consulted at 20 weeks of pregnancy for lumbar pain, dysuria and fever. A urinalysis revealed the presence of white blood cells. The patient was admitted to hospital and treated with antimicrobials. Forty eight hours after admission a proteinuria of 440 mg/24 h was detected. A severe pre eclampsia-HELLP syndrome was diagnosed. However the patient remained with normal blood pressure. An elevation of liver enzymes and creatinine were observed. Five days later fetal death was confirmed and an abortion was induced. The patient required a platelet transfusion. Four days after the abortion, the patient was discharged in good conditions. PMID:24718475

Garrido, María Fernanda; Carvajal, Jorge Andrés

2013-11-01

355

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

356

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

357

Hyperventilation and exhaustion syndrome.  

PubMed

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 (R(2)  = 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

2014-12-01

358

The trisomy 18 syndrome.  

PubMed

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

Cereda, Anna; Carey, John C

2012-01-01

359

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 oral as an occupational disorder and ended the occupational of exposure. The evolution is favourable, except

Paris-Sud XI, Université de

360

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

361

Papillon-Lefévre syndrome.  

PubMed

The goal of periodontal therapy has always been regeneration of the lost tissues. However, conventional periodontal therapy has not always been successful in achieving regeneration, especially when it is part of a syndrome. This case report involves a 13-year old male patient with the chief complaint of mobile teeth for over 3 months. His dental history revealed early loss of primary dentition, around 3-4 years of age and that he noticed mobility of permanent incisors and molars at 9-10 years. Keratotic skin lesions on the palms and soles were present since the age of 3 years. Full mouth intra-oral periapical radiographs showed extensive bone loss upto apical thirds of the teeth and an orthopantamograph showed "floating in air" appearance. Further, a lateral cephalogram was taken to rule out any calcifications of the duramater. The case was provisionally diagnosed to be Papillon Lefévre syndrome. A conventional polymerase chain reaction assay was also done to assess the virulence genes in aggressive periodontitis. Though the management of PLS involves the regular phases of periodontal therapy, namely, etiotropic, surgical, restorative and maintenance phases, the complete esthetic and functional rehabilitation also involves other specialities especially prosthodontic and dermatologic and later an implantologist. After appropriate periodontal and prosthodontic management, the patient has been followed up for over a year and is maintaining in a stable condition. PMID:22144846

Veerabahu, Bagavad Gita; Chandrasekaran, Sc; Alam, Mohammed Nazish; Krishnan, Mahalakshmi

2011-09-01

362

Cowden syndrome.  

PubMed

Cowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. It is inherited in an autosomal dominant manner with ?80% of patients having a germ-line mutation of the PTEN tumour suppressor gene. Presenting signs and symptoms are highly non-specific. Nevertheless clinicians should be able to recognise this syndrome so that patients may be screened for cancerous growths and afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. We present a review of this unusual but important condition with particular emphasis on the diagnostic criteria, clinical features, genetics, management and surveillance. PMID:20580873

Farooq, A; Walker, L J; Bowling, J; Audisio, R A

2010-12-01

363

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

364

Medullary Thyroid Carcinoma with Ectopic Adrenocorticotropic Hormone Syndrome  

PubMed Central

Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea. PMID:24741461

Choi, Hong Seok; Kim, Min Joo; Moon, Chae Ho; Yoon, Jong Ho; Ku, Ha Ra; Kang, Geon Wook; Na, Im Il; Lee, Seung-Sook; Lee, Byung-Chul; Park, Young Joo; Kim, Hong Il

2014-01-01

365

Vasoplegic syndrome during liver transplantation.  

PubMed

A 56-yr-old woman with chronic hepatitis B and decompensated hepatic cirrhosis was treated with liver transplantation. At the beginning of the neohepatic phase, her arterial blood pressure remained at 60/40 mm Hg for approximately 40 min and did not respond to vasoconstrictive drugs. Her other clinical and laboratory values remained normal, apart from a high cardiac output and low systemic vascular resistance. This patient was diagnosed with vasoplegic syndrome and was treated with i.v. infusion of methylene blue (0.5 mg/kg) and norepinephrine. This report has potential significance to treatment in patients who undergo orthotopic liver transplantation. PMID:19448226

Cao, Zhongping; Gao, Yuqi; Tao, Guocai

2009-06-01

366

Molecular genetics of Liddle's syndrome.  

PubMed

Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel (ENaC) blockers but not spironolactone therapy. Our understanding of ENaCs and Na(+) transport defects has expanded greatly over the past two decades and provides detailed insight into the molecular basis of Liddle's syndrome. In this review, we offer an overview of recent advances in understanding the molecular genetics of Liddle's syndrome, involving mutation analysis, molecular mechanisms and genetic testing. The ENaC in the distal nephron is composed of ?, ? and ? subunits that share similar structures. Mutations associated with Liddle's syndrome are positioned in either ? or ? subunits and disturb or truncate a conserved proline-rich sequence (i.e., PY motif), leading to constitutive activation of the ENaC. Genetic testing has made it possible to make accurate diagnoses and develop tailored therapies for mutation carriers. PMID:24882431

Yang, Kun-Qi; Xiao, Yan; Tian, Tao; Gao, Ling-Gen; Zhou, Xian-Liang

2014-09-25

367

A Case of Blau Syndrome  

PubMed Central

We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist. PMID:24876985

Chauhan, Krati; Michet, Clement

2014-01-01

368

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.  

PubMed

Sotos syndrome (OMIM #117550) is a congenital syndrome characterized by overgrowth with advanced bone age, macrocephaly, and learning difficulties. Endocrine complications of this syndrome have not yet been fully described in previous reports. We here investigated the clinical manifestations of Sotos syndrome in Japanese patients who presented with hyperinsulinemic hypoglycemia of infancy. We recruited patients diagnosed as having Sotos syndrome who presented with the complication of hyperinsulinemia during the neonatal period using a survey of the abstracts of Pediatric Meetings in domestic areas of Japan from 2007 to 2011. As a result, five patients (four females and one male) were recruited to evaluate the clinical presentation of Sotos syndrome by reference to the clinical record of each patient. A 5q35 deletion including the NSD1 gene was detected in all patients. Major anomalies in the central nervous, cardiovascular, and genito-urinary systems were frequently found. Hypoglycemia occurred between 0.5 and 3?hr after birth and high levels of insulin were initially found within 3 days of birth. The patients were treated with intravenous glucose infusion at a maximum rate of 4.6-11.0?mg/kg/min for 12-49 days. Three of the five patients required nasal tube feeding. One patient received medical treatment with diazoxide. This study shows that patients with Sotos syndrome may present with transient hyperinsulinemic hypoglycemia in the neonatal period. PMID:23239432

Matsuo, Terumichi; Ihara, Kenji; Ochiai, Masayuki; Kinjo, Tadamune; Yoshikawa, Yoko; Kojima-Ishii, Kanako; Noda, Marie; Mizumoto, Hiroshi; Misaki, Maiko; Minagawa, Kyoko; Tominaga, Koji; Hara, Toshiro

2013-01-01

369

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

370

Neurocutaneous Syndromes  

Microsoft Academic Search

\\u000a Synonym. Also known as phakomatoses, a term derived from the Greek root phakos (birthmark) pointing out the common, visible dermatologic\\u000a manifestations characteristic of these syndromes.\\u000a \\u000a \\u000a Definition. The neurocutaneous syndromes consist of several heterogeneous disorders, grouped together because of their common manifestation\\u000a with neurologic, cutaneous and ocular signs. Disorders classified in this group of pathologies include neurofibromatosis (types\\u000a 1 and 2),

Gianpiero Tamburrini; Concezio Di Rocco

371

Morbihan syndrome  

PubMed Central

We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks). PMID:23741671

Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

2013-01-01

372

Diagnosing Specific Learning Difficulties in Multilingual Children.  

ERIC Educational Resources Information Center

Presents three case studies that highlight the complexity of diagnosing dyslexia in multilingual learners, defining dyslexia, presenting a framework for testing, and describing the need for testing in languages other than English. Highlights how the framework could be used with the three cases. Concludes with implications for research and…

Smythe, Ian

2001-01-01

373

BYU Manager's Toolbox Diagnose the Employee's Need  

E-print Network

BYU Manager's Toolbox 1 Diagnose the Employee's Need Traditional managers assume that the harder you work, the better you perform. This is why when managers encounter employees who are poor performers they often attribute their poor performance to a lack of motivation or commit- ment to the task

Martinez, Tony R.

374

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

375

NEURAL NETWORKS IN PSYCHOLOGY: CLASSICAL EXPLICIT DIAGNOSES  

E-print Network

Questionnaire of Bekhterev Institute) psychological technique [6) widely used in clinical practice. CLANAssNEURAL NETWORKS IN PSYCHOLOGY: CLASSICAL EXPLICIT DIAGNOSES M.G.Dorrer', A.N. Gorban2, V.I. Zenkin3 the designers and users of computer psychological tests: Culturail, national and social adaptation of tests

Gorban, Alexander N.

376

Updated Diagnoses and Evidence-based Treatments  

E-print Network

Updated Diagnoses and Evidence-based Treatments for Addiction Carlton Erickson, Ph for diagnosis by computer (e.g., SCID) · oen used by untrained personnel Recommended: · trained assessment counselor/technician · not given by computer w/o other criteria

Hofmann, Hans A.

377

Truth-telling and patient diagnoses  

Microsoft Academic Search

How do physicians handle informing patients of their diagnoses and how much information do patients really want? How do registered nurses view both sides of this question?Three questionnaires were constructed and administered in a mid-size hospital in New York state. Physicians and nurses underestimate the number of patients who want detailed information. Patients who earn more than average, have a

Robert J Sullivan; Lawrence W Menapace; Royce M White

2001-01-01

378

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

379

How Is Peripheral Arterial Disease Diagnosed?  

MedlinePLUS

... A simple test called an ankle-brachial index (ABI) often is used to diagnose P.A.D. The ABI compares blood pressure in your ankle to blood ... how well blood is flowing in your limbs. ABI can show whether P.A.D. is affecting ...

380

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.  

PubMed

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. PMID:21667913

Banerjee, Purnajyoti; McLean, Christopher

2011-06-01

381

Coexistence of Ankylosing Spondylitis and Löfgren's Syndrome.  

PubMed

A 46-year-old male patient diagnosed with ankylosing spondylitis presented to our polyclinic with complaints of pain, swelling, and limitation in joint mobility in both ankles and erythema nodosum skin lesions in both pretibial sites. The sacroiliac joint graphy and the MRI taken revealed active and chronic sacroiliitis. On the thorax CT, multiple mediastinal and hilar lymphadenopathies were reported. Mediastinoscopic excisional lymph node biopsy was taken and noncalcified granulomatous structures, lymphocytes, and histiocytes were determined on histopathological examination. The patients were diagnosed with ankylosing spondylitis, sarcoidosis, and Löfgren's syndrome. NSAIDs, sulfasalazine, and low dose corticosteroid were started. Significant regression was seen in the patient's subjective and laboratory assessments. PMID:24741443

Kobak, Senol; Sever, Fidan; Sivrikoz, Oya; Karaarslan, Ahmet

2014-01-01

382

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

383

A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.  

PubMed

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones. PMID:23575236

Lee, Min Jae; Chang, Yoon Hwan; Kang, Seung Hwa; Mun, Se Kwon; Kim, Heyjin; Han, Chul Ju; Kim, Jin; Kang, Hye Jin

2013-03-25

384

Piriformis syndrome: a case with non-discogenic sciatalgia.  

PubMed

Piriformis syndrome is a clinical picture of non-discogenic sciatica caused by compression of the sciatic nerve by the piriformis muscle. It has variable etiologies and the patho-physiology is not fully understood. The major etiology was known to be the spasm, edema and inflammation of the piriformis muscle and sciatic nerve compression of the muscle later on. Patients can be diagnosed immediately with a comprehensive clinical examination and early diagnosis makes the treatment much easier. Diagnosis of the piriformis syndrome, a very rare cause of low back pain, first requires that this syndrome is remembered, and then a differential diagnosis should be performed. A case of piriformis syndrome diagnosed in a patient who presented with low back pain is reported in this study. PMID:24535806

Parlak, Adem; Aytekin, Aykut; Develi, Sedat; Ekinci, Safak

2014-01-01

385

Nicolau Syndrome after Intramuscular Benzathine Penicillin Injection  

PubMed Central

A 3-year-old boy was admitted to the emergency department with right lower limb pain, edema, and livedoid discoloration that occurred immediately after intramuscular injection of benzathine penicillin. The patient was diagnosed with Nicolau syndrome, a rare complication of intramuscular injection presumed to be related to the inadvertent intravascular injection. It was first reported following intramuscular injection of bismuth salt, but it can occur as a complication of various other drugs. Fasciotomy was carried out due to the resultant compartment syndrome and medical therapy with heparin, corticosteroid, and pentoxifyllin was initiated.

Noaparast, Morteza; Mirsharifi, Rasoul; Elyasinia, Fezzeh; Parsaei, Reza; Kondori, Hessam; Farifteh, Sara

2014-01-01

386

Diagnostic difficulties in periodic Cushing's syndrome.  

PubMed Central

A 22-year-old black woman presented with symptoms suggestive of Cushing's syndrome three years after chemotherapy for a presumed teratoma with cervical lymphadenopathy. Initially, the absence of clinical signs and the demonstration of two normal 24 h urinary free cortisols appeared to exclude the diagnosis, but an ectopic adrenocorticotropin-producing thymic carcinoid was subsequently removed surgically. Cushing's syndrome due to ectopic adrenocorticotropin production can be difficult to diagnose, particularly if there is periodic hormonogenesis. Images Figure 1 Figure 2 PMID:9338031

Walker, A. B.; Leese, G. P.; Vora, J. P.

1997-01-01

387

Progressive language impairments: Definitions, diagnoses, and prognoses  

Microsoft Academic Search

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

Karen Croot

2009-01-01

388

Population-based consultation patterns in patients with shoulder pain diagnoses  

PubMed Central

Background To assess the annual consultation prevalence and new onset consultation rate for doctor-diagnosed shoulder pain conditions. Methods We identified all residents in the southernmost county in Sweden who received a shoulder pain diagnosis during 2006 (ICD-10 code M75). In subjects who did not consult due to such disorders during 2004 and 2005, we estimated the new onset consultation rate. The distribution of specific shoulder conditions and the length of the period of repeated consultation were calculated. Results Annual consultation prevalence was 103/10 000 women and 98/10 000 men. New onset consultation rate was 80/10 000 women (peak in age 50–59 at 129/10 000) and 74/10 000 men (peak in age 60–69 at 116/10 000). About one fifth of both genders continued to consult more than three months after initial presentation, but only a few percent beyond two years. Rotator cuff - and impingement syndromes were the most frequent diagnoses. Conclusion The annual consultation prevalence for shoulder pain conditions (1%) was similar in women and men, and about two thirds of patients consulted a doctor only once. Impingement and rotator cuff syndromes were the most frequent diagnoses. PMID:23190941

2012-01-01

389

Papillon-Lefèvre syndrome: a report of two cases.  

PubMed

Papillon-Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one-third of cases. This paper describes two preschool children who presented at the Paediatric Dentistry Department, Sheffield, UK, with progressively loosening teeth and discomfort during eating. The medical history revealed scaling on the hands and feet, which had been medically diagnosed as eczema. Papillon-Lefèvre syndrome was diagnosed in both cases. PMID:15242386

Patel, S; Davidson, L E

2004-07-01

390

Cushing's syndrome in a case of thymic carcinoma  

PubMed Central

A 29-year-old gentleman presented with episodic features suggestive of Cushing's syndrome. He was evaluated and diagnosed with ectopic Adrenocorticotropic hormone (ACTH)–dependent Cushing's syndrome due to a thymic tumor. The thymic lesion was excised and histopathology confirmed thymic carcinoma with neuroendocrine differentiation, with local, perineural, and vascular invasion. The postoperative problems and further treatment options have been discussed in this case report. PMID:22029011

Asha, H. S.; Sudeep, K.; Alexander, Manika; Korula, Anila; Gnanamuthu, Birla Roy; Thomas, Nihal

2011-01-01

391

Cushing's syndrome in a case of thymic carcinoma.  

PubMed

A 29-year-old gentleman presented with episodic features suggestive of Cushing's syndrome. He was evaluated and diagnosed with ectopic Adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome due to a thymic tumor. The thymic lesion was excised and histopathology confirmed thymic carcinoma with neuroendocrine differentiation, with local, perineural, and vascular invasion. The postoperative problems and further treatment options have been discussed in this case report. PMID:22029011

Asha, H S; Sudeep, K; Alexander, Manika; Korula, Anila; Gnanamuthu, Birla Roy; Thomas, Nihal

2011-10-01

392

The pituitary stalk transection syndrome: multifaceted presentation in adulthood  

Microsoft Academic Search

The pituitary stalk transection syndrome was characterized after introducing the MRI scan in the evaluation of children with\\u000a hypopituitarism. Its prevalence and natural history into adulthood have not been clearly established. We present 4 cases of\\u000a stalk transection syndrome diagnosed by the adult endocrinologist that reflect its pleiotropic manifestations. In all cases,\\u000a MRI showed pathognomonic findings with small anterior pituitary,

Adriana Gabriela Ioachimescu; Amir H. Hamrahian; Mariam Stevens; Robert S. Zimmerman

393

Moyamoya syndrome associated with sickle cell trait in a child.  

PubMed

Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyamoya syndrome associated with sickle cell trait. To date, two such cases have been reported in the literature. As far as we know, this patient is the first child reported. PMID:23953970

Komur, Mustafa; Unal, Selma; Okuyaz, Cetin; Ozgur, Anil

2014-06-01

394

[Vulvar lichen sclerosus in a girl with Turner syndrome].  

PubMed

Dermatological complications in Turner syndrome are infrequent but occasionally cause significant morbidity. Lichen sclerosus (LS) is a chronic inflammatory mucocutaneous affection characterized by pruritus in the anogenital area. It is yet not clear its pathophysiology but it's linked with genetic factors and autoimmunity. This is a case report of a girl with Turner syndrome with growth hormone treatment that started with vulvar pruritus and was diagnosed as lichen sclerosus. PMID:24955917

Ocampo, Dolores; González, Verónica

2014-08-01

395

[Sneddon's syndrome vasculopathy with antiphospholipid antibodies in a child].  

PubMed

We studied a ten-year old girl with livedo reticularis and multiple central nervous system ischemic attacks beginning when she was five. Blood tests were positive for cryoglobulins and antiphospholipid antibodies; superior limb angiography showed occlusion and irregularities of the vessel walls and temporal artery biopsy revealed concentric thickening of the vessel wall due to fibrotic subendothelial proliferation. Sneddon's syndrome was diagnosed. Onset of this syndrome during early childhood has not been previously reported. PMID:7893511

Villaizán, C; Ferrada, M J; Legarda, I; Iriarte, J; Narbona, J; Martínez-Lage, J M

1995-01-01

396

Diarrhea and constipation-predominant irritable bowel syndrome  

Microsoft Academic Search

Opinion statement  Irritable bowel syndrome (IBS) has a reputation for being hard to treat, trivial, and often psychologic in origin. Furthermore,\\u000a there currently appears to be almost more of a stigma attached to being diagnosed as having IBS than a depressive illness.\\u000a Thus, it is not surprising that patients with this syndrome become distressed by the attitudes they encounter, particularly\\u000a as

Richard Lea; Peter J. Whorwell

2001-01-01

397

Meckel-Gruber syndrome: Report of two cases.  

PubMed

Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy. PMID:22346195

Panduranga, C; Kangle, Ranjit; Badami, Rajshree; Patil, Prakash V

2012-01-01

398

[SAPHO syndrome].  

PubMed

The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary. PMID:25260820

Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

2014-10-01

399

Turcot Syndrome  

MedlinePLUS

... of colorectal cancer , and an increased risk of brain cancer . The type of brain cancer generally depends on whether the Turcot syndrome is ... or FAP , with the addition of screening for brain cancer . See those conditions’ sections for a summary of ...

400

Patellofemoral syndrome  

Microsoft Academic Search

This paper examines the condition of anterior knee pain known as patellofemoral pain syndrome. It describes the functional anatomy and biomechanics of the knee including normal movement, and factors which may destabilize the knee, and predispose it to injury. The controversial “Q” angle is discussed, as is its relationship to patellofemoral pain. The importance of balanced musculature to the integrity

S. T. Green

2005-01-01

401

Aicardi syndrome  

Microsoft Academic Search

Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal ‘lacunae’. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the spectrum of AS seems broader than previously defined with a

Jean Aicardi

2005-01-01

402

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

403

High Frequency of Chronic Bacterial and Non-Inflammatory Prostatitis in Infertile Patients with Prostatitis Syndrome Plus Irritable Bowel Syndrome  

Microsoft Academic Search

BackgroundAlthough prostatitis syndrome (PS) and irritable bowel syndrome (IBS) are common disorders, information on the prevalence of IBS in infertile patients with PS is relatively scanty. Therefore, this study was undertaken to estimate the frequency of PS and IBS and to evaluate the prevalence of the various diagnostic categories of prostatitis.Methodology\\/Principal FindingsThis study enrolled 152 patients with PS, diagnosed by

Enzo Vicari; Sandro La Vignera; Domenico Arcoria; Rosita Condorelli; Lucia O. Vicari; Roberto Castiglione; Andrea Mangiameli; Aldo E. Calogero; Irina Agoulnik

2011-01-01

404

Commentary: The federal 'Prenatally and Postnatally Diagnosed Conditions Awareness Act'.  

PubMed

The recently enacted federal law, the 'Prenatally and Postnatally Diagnosed Conditions Awareness Act' (United States Public Law 110-374) seeks to improve opportunities for parents and pregnant women to anticipate and understand the likely life course of children born with Down syndrome and other (unspecified) conditions. The law is in part a response to the continued growth of prenatal screening and testing. For example, the American College of Obstetricians and Gynecologists' Practice Bulletin 77 recommends that 'Screening and invasive diagnostic testing for aneuploidies be available to all women who present for prenatal care before 20 weeks of gestation regardless of maternal age.' Emerging technologies anticipate an era in which the scope of prenatal screening and testing will be much larger than it is today. Inevitably, more women will find themselves facing the hard question of whether to continue or end a pregnancy in which a fetus has been found to have a significant abnormality. While the new federal law is not likely to have a major impact on obstetric practice, it may be a harbinger of renewed wide-scale public debate concerning the ethics of prenatal screening. PMID:19548258

Reilly, Philip R

2009-09-01

405

[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

406

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

407

Dangerous drug interactions leading to hemolytic uremic syndrome following lung transplantation  

Microsoft Academic Search

BACKGROUND: To report our experience of a rather uncommon drug interaction, resulting in hemolytic uremic syndrome (HUS). METHODS: Two consecutive cases of hemolytic uremic syndrome were diagnosed in our service. In both patients the use of macrolides in patients taking Tacrolimus, resulted in high levels of Tacrolimus. RESULTS: The first patient was a 48 years old female with Bilateral emphysema.

Haralabos Parissis; Kate Gould; John Dark

2010-01-01

408

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

409

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

410

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

411

McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding  

PubMed Central

McKusick-Kaufman syndrome is a rare autosomal recessive disease diagnosed by polydactyly, hydrometrocolpos, and congenital heart disease. We present an unusual laparotomy confirmed urogenital MRI finding (atretic vaginal pouch) in a 3-month-old girl with McKusick-Kaufman syndrome. Up to our knowledge, this MR finding has not been reported in the literature yet. PMID:22470656

Mostafavi, Seyed-Hassan; Hooman, Nakysa; Hallaji, Farideh

2009-01-01

412

Retinal Hemorrhages and Shaken Baby Syndrome: An Evidence-Based Review  

Microsoft Academic Search

Background: Among the causes of non-accidental head injury (NAHI), shaken baby syndrome (SBS) is difficult to diagnose and is associated with retinal hemorrhages (RH). Description: To identify findings and patterns of RH specific to SBS, a PubMed search using the keywords “shaken baby syndrome” or “child abuse” and “retinal hemorrhage” was conducted; 66 articles met the inclusion criteria. The published

Brandon M. Togioka; Meghan A. Arnold; Melinda A. Bathurst; Susan M. Ziegfeld; Rosemary Nabaweesi; Paul M. Colombani; David C. Chang; Fizan Abdullah

2009-01-01

413

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

414

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

415

Persistent Intraocular Rubella Infection in a Patient with Fuchs' Uveitis and Congenital Rubella Syndrome  

PubMed Central

There is growing evidence for the role of rubella virus in Fuchs' uveitis syndrome (FUS). This report is the first to show persistent intraocular rubella virus in a 28-year-old man with congenital rubella syndrome (CRS), who presented with blurred vision and was diagnosed with FUS. PMID:23426927

Varga, Zsolt; Parmar, Dipak; Brown, Kevin E.

2013-01-01

416

Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome  

Microsoft Academic Search

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed.

C O Gøtzsche; B Krag-Olsen; J Nielsen; K E Sørensen; B O Kristensen

1994-01-01

417

Mortality of Women with Polycystic Ovary Syndrome at Long-term Follow-up  

Microsoft Academic Search

Metabolic disturbances associated with insulin resistance are present in most women with polycystic ovary syndrome. This has led to suggestions that women with polycystic ovary syndrome may be at increased risk of cardiovascular disease in later life. We undertook a long-term follow-up study to test whether cardiovascular mortality is increased in these women. A total of 786 women diagnosed with

T. Pierpoint; P. M. McKeigue; A. J. Isaacs; S. H. Wild; H. S. Jacobs

1998-01-01

418

A case report of hairy cell leukemia presenting concomitantly with sweet syndrome.  

PubMed

Hairy cell leukemia and Sweet syndrome are both uncommon hematological diagnoses. We present a patient who was admitted with fevers, pancytopenia, pneumonia, and rash. Diagnostic bone marrow biopsy demonstrates Hairy cell Leukemia and skin biopsy demonstrates neutrophils infiltration consistent with Sweet syndrome. The patient was treated with purine analogs with resolution of the cytopenias, infection, and rash. PMID:24715920

Alkayem, Mohammad; Cheng, Waina

2014-01-01

419

Progressive resistance training in patients with shoulder impingement syndrome: A randomized controlled trial  

Microsoft Academic Search

Objective. To assess pain, function, quality of life, and muscle strength in patients with shoulder impingement syndrome who participated in muscle strengthening exercises. Methods. A total of 60 patients diagnosed with shoulder impingement syndrome were selected from the clinics of the Federal University of Sao Paulo and randomly distributed into experimental and control groups. Patients were evaluated regarding pain, function,

Império Lombardi; Ângela Guarnieri Magri; Anna Maria Fleury; Antonio Carlos Da Silva; Jamil Natour

2008-01-01

420

Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors  

PubMed Central

Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome. PMID:23050938

2012-01-01

421

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.

422

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

423

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

PubMed Central

Summary: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient’s life under threat. PMID:23837959

FINI, G.; BELLI, E.; MICI, E.; VIRCIGLIO, P.; MORICCA, L.M.; D'ITRI, L.; LEONARDI, A.; MALAVENDA, M.S.; KRIZZUK, D.; MEROLA, R.; MATURO, A.; PASTA, V.

2013-01-01

424

[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)].  

PubMed

The first case of Niikawa-Kuroki-syndrome (so called Kabuki-make up-syndrome) in Europe and the second one out of Japan has been reported. It concerns a male child with retardation of growth, mental and motoric development. The syndrome can be diagnosed through the typical dysmorphia of the face, epicanthus, arched eyebrows, broad and depressed nasal tip, large malformed ears and stubby fingers. Anomalies of the dermatoglyphic patterns of the fingers observed in the Japanese patients could not be confirmed in our case. There was a normal chromosomal pattern. No further cases in the family could be found. The etiology of this new syndrome is not yet elucidated. PMID:3959492

Braun, O H; Schmid, E

1986-01-01

425

Infection control consequences - early Staphylococcal Scalded Skin Syndrome or Kawasaki Syndrome?  

PubMed Central

Childhood exanthemata are caused by a broad spectrum of common pathogens. Many exanthemata initially present very similarly, even though caused by different organisms, ranging from virus to bacteria and their respective toxins. In the majority of cases the diagnosis is only of academic value, since therapy does hardly differ. However, in some cases accurate and prompt diagnosis is paramount, since therapy and appropriate hygiene measures prevent morbidity and mortality. We present a case with two differential diagnoses, Staphylococcal Scalded Skin Syndrome and Kawasaki Syndrome, which demonstrates the importance of considering relatively rare conditions as the cause of a childhood exanthema and discuss differences in therapeutic and infection control management. From an infection control point of view, Staphylococcal Scalded Skin Syndrome is, in contrast to Kawasaki Syndrome, highly transmittable to other paediatric patients via the hands of the staff. Therefore maintaining correct hand hygiene as well as other infection control measures are of importance until the final diagnosis is established. PMID:20204087

Assadian, Afshin; Assadian, Ojan; Simon, Arne; Kramer, Axel

2009-01-01

426

Missed opportunities for diagnosing primary HIV infection  

Microsoft Academic Search

Objective:To investigate the extent to which primary HIV infection (PHI) presents to healthcare providers and the degree to which it is unrecognised.Methods:All individuals diagnosed with having recent HIV infection between 2003 and 2005 were identified (based on the following criteria: an evolving antibody response, negative HIV test within 18 months or a serological testing algorithm for recent HIV seroconversion). Symptoms

D Sudarshi; D Pao; G Murphy; J Parry; G Dean; M Fisher

2008-01-01

427

Diagnosing configuration errors in virtual private networks  

Microsoft Academic Search

Traditional network fault management systems diagnose hard, localized errors such as fiber cuts or hardware\\/software component failures. It is quite possible, however, that network components work correctly yet end-to-end services do not. This happens if there are configuration errors, i.e., configuration parameters of components are set to incorrect values. Configuration is a fundamental operation for integrating components to implement end-to-end

Sanjai Narain; M. Rangadurai; A. Shareef

2001-01-01

428

Pharmacologic therapies for complex regional pain syndrome  

Microsoft Academic Search

Complex regional pain syndrome (CRPS) remains a challenging condition to diagnose and treat. There are few large-scale, randomized\\u000a trials of pharmacologic agents, and most published studies are small, uncontrolled, or presented only in abstract form at\\u000a meetings. The most commonly used agents, such as anticonvulsants, antidepressants, and opiates, have been found to be useful\\u000a for other neuropathic pain conditions in

Sean Mackey; Steven Feinberg

2007-01-01

429

Proteus syndrome and hypothyroidism. An unusual association.  

PubMed

We present a case of a 3½-year-old girl diagnosed as Proteus syndrome with severe cosmetic disfigurement-macrodactyly, hemi-hypertrophy of the face and limbs, megalencephaly, lymph edema of both hands and feet along with severe global developmental delay. She was found to have severe recalcitrant epilepsy and also primary hypothyroidism; the association of which is not mentioned in the previous literature.  PMID:25228186

Ali, Manzoor A; Yaseen, Hakam A; Muhammed, Muhammed A

2014-09-01

430

Primary omental torsion diagnosed during hysterectomy  

PubMed Central

Omental torsion is a rare cause of acute abdominal pain. It presents with nonspecific symptoms and signs of an acute abdomen, making it difficult to diagnose preoperatively, because symptoms mimic those caused by other conditions such as appendicitis, cholecystitis, diverticulitis, and other gynecologic diseases. Computed tomography is an effective and useful method to diagnose and exclude other acute abdominal conditions. Our case presented with sudden right upper abdominal pain with tenderness, rebound tenderness, mild fever (37.2?), increased erythrocyte sedimentation rate (37 mm/hr), increased high-sensitivity C-reactive protein level (5.97 mg/dL). Computed tomography showed a large, well-circumscribed heterogeneous fatty mass and a 7.3 cm subserosal myoma. We could not exclude the myoma as the cause of acute abdominal pain, so we performed an emergency operation with suspicion of omental torsion or necrotic degeneration of the myoma. During the operation, we diagnosed primary omental torsion with infarction and subserosal myoma without secondary degeneration.

Park, Chul Min

2014-01-01

431

Primary omental torsion diagnosed during hysterectomy.  

PubMed

Omental torsion is a rare cause of acute abdominal pain. It presents with nonspecific symptoms and signs of an acute abdomen, making it difficult to diagnose preoperatively, because symptoms mimic those caused by other conditions such as appendicitis, cholecystitis, diverticulitis, and other gynecologic diseases. Computed tomography is an effective and useful method to diagnose and exclude other acute abdominal conditions. Our case presented with sudden right upper abdominal pain with tenderness, rebound tenderness, mild fever (37.2?), increased erythrocyte sedimentation rate (37 mm/hr), increased high-sensitivity C-reactive protein level (5.97 mg/dL). Computed tomography showed a large, well-circumscribed heterogeneous fatty mass and a 7.3 cm subserosal myoma. We could not exclude the myoma as the cause of acute abdominal pain, so we performed an emergency operation with suspicion of omental torsion or necrotic degeneration of the myoma. During the operation, we diagnosed primary omental torsion with infarction and subserosal myoma without secondary degeneration. PMID:25264536

Park, Chul Min; Kim, Sung Yob

2014-09-01

432

Pulmonary Artery Leiomyosarcoma Diagnosed without Delay  

PubMed Central

A 63-year-old female presented with abnormal lung shadows but had, apart from this, few symptoms. Computed tomography (CT) revealed multiple nodules and blockage of the pulmonary artery. She was immediately diagnosed with pulmonary artery sarcoma based on a careful differential diagnosis and underwent surgery. Her tumor was pathologically diagnosed as leiomyosarcoma (i.e. intimal sarcoma). Pulmonary artery sarcoma can be easily confounded with thromboembolism in a clinical setting and some cases are diagnosed post mortem only. In our case, clinical prediction scores (Wells score, Geneva score, and revised Geneva score) for the pulmonary embolism showed low probability. Moreover, chest CT showed uncommon findings for pulmonary thromboembolism, as the nodules were too big for thrombi. Because surgical resection can provide the only hope of long-term survival in cases of pulmonary artery sarcoma, clinicians should consider this possibility in the differential diagnosis of pulmonary embolism. Clinical prediction scores and CT findings might help to reach the correct diagnosis of pulmonary artery sarcoma. PMID:21734884

Yamasaki, Motohisa; Sumi, Yuki; Sakakibara, Yumi; Tamaoka, Meiyo; Miyazaki, Yasunari; Arai, Hirokumi; Kojima, Katsuo; Itoh, Fusahiko; Amano, Tomonari; Yoshizawa, Yasuyuki; Inase, Naohiko

2011-01-01

433

Diagnosing the prostatitis patient: The dilemma continues  

Microsoft Academic Search

National Institutes of Health Category III prostatitis\\/ chronic pelvic pain syndrome continues to pose a diagnostic and treatment\\u000a challenge to most urologists. While this form of so-called prostatitis is the most prevalent and frustrating, little progress\\u000a has been made in proving an etiology and consequently, in finding an effective remedy. The diagnostic dilemma is illustrated\\u000a by the conflicting data employed

Jeannette M. Potts

2002-01-01

434

Delay in diagnosis of acute on chronic exertional compartment syndrome of the leg  

Microsoft Academic Search

Exertional compartment syndrome is most commonly described in its chronic form in the young sportive patient. The acute form\\u000a is a lot rarer and usually only unilateral. We report a case in which a chronic compartment syndrome became acute after intense\\u000a effort. This was diagnosed rather late due to the lack of knowledge about this syndrome. The necrosis noticed during

André-Pierre Uzel; Guillaume Lebreton; Medhi Lionel Socrier

2009-01-01

435

Malignant acanthosis nigricans, florid cutaneous papillomatosis and tripe palms syndrome associated with gastric adenocarcinoma  

PubMed Central

Malignant acanthosis nigricans is a rare paraneoplastic skin syndrome mostly associated with gastric adenocarcinoma. Florid cutaneous papillomatosis and tripe palms syndrome are considered to be abortive clinical variants of acanthosis nigricans. Clinical manifestations include pruritic, hyperkeratotic and hyperpigmented plaques with a subsequent formation of velvety papillomas in the involved areas. This case report describes an unusual case of the patient diagnosed with a combination of malignant acanthosis nigricans, florid cutaneous papillomatosis and tripe palms syndrome associated with gastric adenocarcinoma. PMID:24683401

Stawczyk-Macieja, Marta; Szczerkowska-Dobosz, Aneta; Nowicki, Roman; Majewska, Hanna; Dubowik, Michal

2014-01-01

436

ROHHADNET syndrome presenting as major behavioral changes in a 5-year-old obese girl.  

PubMed

Behavioral issues are a frequent problem in the pediatric population. Often, these are evaluated and considered to be psychiatric in origin. We report on a pediatric patient who presented with severe behavioral disturbance and developed organic symptoms including hypoventilation and dysautonomia and who was ultimately diagnosed with ROHHADNET syndrome, a syndrome of rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with a neuroendocrine tumor. Autopsy findings revealed novel findings of the syndrome, including hypothalamic encephalitis. PMID:25049346

Sethi, Karen; Lee, Yi-Horng; Daugherty, L Eugene; Hinkle, Andrea; Johnson, Mahlon D; Katzman, Philip J; Sullivan, John S

2014-08-01

437

Beckwith-Wiedemann Syndrome Presenting with an Elevated Triple Screen in the Second Trimester of Pregnancy  

Microsoft Academic Search

Background: Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. Case: A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilical cord and prominent maternal ovaries. The patient developed HELLP syndrome at 28 weeks and delivered a viable

Kjersti M. Aagaard-Tillery; Alan Buchbinder; Mathew P. Boente; Kirk D. Ramin

2007-01-01

438

Magnetic resonance imaging findings in apical ballooning syndrome or takotsubo cardiomyopathy  

PubMed Central

Cardiac magnetic resonance imaging (CMRI) plays an important role in the diagnosis and follow-up of apical ballooning syndrome (takotsubo syndrome), a recently described cardiac condition characterised by transient dyskinesia of the left ventricle secondary to an acute emotional event. We present the CMRI findings in a 53-year-old female diagnosed with apical ballooning syndrome and discuss its value in the diagnosis and follow-up of this condition. PMID:22572438

Kedar, Jambhekar; Pandey, Tarun; Kaushik, Chhavi; Viswamitra, Sanjaya; Molavi, Behzad

2012-01-01

439

Ellis-van Creveld syndrome.  

PubMed

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict. PMID:17547743

Baujat, Geneviève; Le Merrer, Martine

2007-01-01

440

Nodding syndrome - South Sudan, 2011.  

PubMed

In November 2010, the Ministry of Health of the proposed nation of South Sudan requested CDC assistance in investigating a recent increase and geographic clustering of an illness resulting in head nodding and seizures. The outbreak was suspected to be nodding syndrome, an unexplained neurologic condition characterized by episodes of repetitive dropping forward of the head, often accompanied by other seizure-like activity, such as convulsions or staring spells. The condition predominantly affects children aged 5-15 years and has been reported in South Sudan from the states of Western and Central Equatoria and in Northern Uganda and southern Tanzania. Because of visa and security concerns, CDC investigators did not travel to South Sudan until May 2011. On arrival, a case-control study was conducted that included collecting exposure information and biologic specimens to assess the association of nodding syndrome with suspected risk factors. A total of 38 matched case-control pairs were enrolled from two different communities: Maridi and Witto. Overall, current infection with Onchocerca volvulus diagnosed by skin snip was more prevalent among the 38 case-patients (76.3%) than the controls (47.4%) (matched odds ratio [mOR] = 3.2). This difference was driven by the 25 pairs in Maridi (88.0% among case-patients, 44.0% among controls, mOR=9.3); among the 13 pairs in Witto, no significant association with onchocerciasis (known as river blindness) was observed. Although onchocerciasis was more prevalent among case-patients, whether infection preceded or followed nodding syndrome onset was unknown. Priorities for nodding syndrome investigations include improving surveillance to monitor the number of cases and their geographic distribution and continued work to determine the etiology of the syndrome. PMID:22278159

2012-01-27

441

Ellis-Van Creveld syndrome  

PubMed Central

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict. PMID:17547743

Baujat, Genevieve; Le Merrer, Martine

2007-01-01

442

Celiac disease and diabetes mellitus diagnosed in a pediatric patient with Hirschsprung disease.  

PubMed

Hirschsprung disease is a disorder of neural crest migration characterized by intestinal aganglionosis along a variable segment of the gastrointestinal tract. It is a complex disorder associated with several syndromes. Celiac disease is an autoimmune enteropathy characterized by dietary intolerance to gluten proteins and can be associated with autoimmune conditions such as diabetes mellitus. Celiac disease can mimic Hirschsprung disease when presenting with constipation and abdominal distention. We present the case of celiac disease diagnosed in a patient with Hirschsprung disease who subsequently developed type one diabetes mellitus. PMID:22475248

Menchise, Alexandra Nicole; Condino, Adria A; Levitt, Marc A; Hebra, Andre; Wilsey, Michael J

2013-02-01

443

Poland syndrome.  

PubMed

Poland syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilages or ribs 2, 3, and 4 or 3, 4, and 5. The chest wall defect is often associated with a lung hernia. Clinical manifestations are extremely variable and rarely are all the features recognized in 1 individual. Fortunately it is invariably unilateral, allowing for an easier reconstruction. Single-stage reconstruction of the chest wall combined with simultaneous augmentation mammoplasty and transfer of an island pedicle myocutaneous flap of latissimus dorsi muscle are major improvements over previous multiple-stage procedures that provide less satisfactory cosmetic results in management of patients with Poland syndrome. PMID:19632568

Urschel, Harold C

2009-01-01

444

Marfan's syndrome  

PubMed Central

Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor ? (TGF?), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF ? antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype. PMID:16325700

Judge, Daniel P; Dietz, Harry C

2006-01-01

445

[Autoinflammatory syndromes].  

PubMed

Autoinflammatory syndromes are characterised by recurrent or persistent inflammation with no increase in the antibody titers or antigen-specific T lymphocytes, and absence of infection. Initially, they included the hereditary periodic fever syndromes, a group of innate immune system monogenic diseases characterised by recurrent febrile episodes, with different characteristics, duration and interval, accompanied by other symptoms. Secondary amyloidosis is a complication in this group. The advances in the last few years has led to the identification of susceptible genes, new proteins, and characterising mechanisms and pathogenic routes that have led to an improvement in the diagnosis and establishing more effective treatments. Among these routes, are the changes in the inflammasome components, a group of cytoplasmic proteins that regulate the production of several inflammatory response mediators. The initial group of monogenic autoinflammatory diseases have increased in the last few years, due to including several polygenic hereditary diseases. PMID:21596180

Antón, Jordi

2011-01-01

446

Fluency Disorders in Genetic Syndromes  

ERIC Educational Resources Information Center

The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

Van Borsel, John; Tetnowski, John A.

2007-01-01

447

Arachnodactyly--a key to diagnosing heritable disorders of connective tissue.  

PubMed

Arachnodactyly literally means spidery fingers, and describes the long, slender fingers typical of patients with Marfan syndrome (MFS). Many clinicians regard arachnodactyly as pathognomonic of MFS; however, this view is misleading as arachnodactyly is a key element of the marfanoid habitus, which is present in several heritable disorders of connective tissue (HDCTs). Other features of the marfanoid habitus include long hands and feet, increased skin stretch, joint hypermobility and characteristic changes in the physiology of the pectum. Here, we focus on the differential diagnosis of diseases with features of the marfanoid habitus. Ectopia lentis (lens dislocation) and aortic root dilation or dissection are cardinal features of MFS. Distinguishing MFS from other HCDTs has important implications for treatment, as cardiovascular and ocular complications commonly seen in patients with MFS are not seen in all HDCTs. Joint hypermobility syndrome and Ehlers-Danlos syndrome are also HDCTs, neither of which is associated with ectopia lentis or aortic changes. Some of the rarer forms of Ehlers-Danlos syndrome are associated with severe vascular, dental and skin pathologies. This Review serves as a guide for correctly diagnosing members of the HDCT family. PMID:23478494

Grahame, Rodney; Hakim, Alan J

2013-06-01

448

Hepatorenal Syndrome  

PubMed Central

Hepatorenal syndrome (HRS) is a serious complication of liver cirrhosis with critically poor prognosis. The pathophysiological hallmark is severe renal vasoconstriction, resulting from complex changes in splanchnic and general circulations as well as systemic and renal vasoconstrictors and vasodilators. Rapid diagnosis and management are important, since recent treatment modalities including vasoconstrictor therapy can improve short-term outcome and buy time for liver transplantation, which can result in complete recovery. PMID:17603637

Ng, Charles KF; Chan, Michael HM; Tai, Morris HL; Lam, Christopher WK

2007-01-01

449

Metabolic syndrome  

Microsoft Academic Search

The metabolic syndrome is like an elephant, and any literary review of its importance is shamefully reduced to an examination\\u000a of tusks, trunk, and tail. Evidence continues to mount that this diminutive approach is an incorrect management strategy for\\u000a such a large problem. Diet and lifestyle are effective strategies, but they must effectively compete with behaviors that have\\u000a instant gratification.

Margo A. Denke

2002-01-01

450

[Sjögren's syndrome].  

PubMed

This paper consists the theorical review and the current concepts of the subject and the second includes the casuistry of the Stomatology Department of the Pulido Valente Hospital. From April 1989 to 1991 (2 years), a study was made on Sjögren Syndrome (Primary and Secondary) of multiple character with the particular co-operation of the Portuguese Institute of Rheumatology. With this paper we wish to point out the importance of the oral evaluation of the study of the plurisystemic diseases as well as to establish criterions of diagnosis for the Portuguese population. Eighty cases of suspected Sjögren's Syndrome have been assessed, 66 of which have been fully. The reason for the consultation was dry mouth, dry eyes and enlargement of parotid glands. The symptoms were isolated or in association with other pathologies after other causes had been excluded. We had to establish the salivary reference values for the Portuguese population in 22 healthy volunteers. The xerostomia was evaluated by the Sialochemistry, Sialography, Cintigraphy and biopsies of the lower lip and of the sublingual gland. The ophthalmologic examination took place in the Ophthalmology Department of Santo António dos Capuchos Hospital by means of Shirmer test, Rosa Bengala and B.U.T. In spite of Sjögren's Syndrome being, up to now, so remotely determined in connection with the treatment, these patients need medical care and Stomatology plays a fundamental role as far as the diagnosis and the therapeutic points of view are concerned. We maintain the notion that the Syndrome is not as infrequent as one would believe and the evaluation of the oral field is important to establish the degree of the disease and its treatment. PMID:7856465

Brito, A; Figueirinhas, J; Ramos, M; Soares, A L; Neves, L R; Lobo, J; Faro, L S

1994-10-01

451

Masquerade Syndromes  

Microsoft Academic Search

The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis [1]. Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an

Shouvik Saha; Elizabeth M. Graham

452

Parkinsonian syndromes  

Microsoft Academic Search

\\u000a A variety of conditions may cause parkinsonian syndromes independent of the idiopathic loss of substantia nigra neurons and\\u000a deafferentation of the striatum; these include degenerative conditions, infections, drugs, toxins and structural lesions (Figure\\u000a 2.1). The clinical pictures of these degenerative conditions overlap but are usually recognized by the presence of subtle\\u000a “red flags” in the earlier stage of the illness.

K Ray Chaudhuri; Prashanth Reddy

453

Proteus Syndrome  

Microsoft Academic Search

\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and

Martino Ruggieri; Ignacio Pascual-Castroviejo

454

Noonan Syndrome  

PubMed Central

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available. PMID:24444506

BHAMBHANI, VIKAS; MUENKE, MAXIMILIAN

2014-01-01

455

Acrodysostosis syndromes  

PubMed Central

Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gs?, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gs?–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

2012-01-01

456

Trousseau's syndrome.  

PubMed Central

We report 4 cases of Trousseau's syndrome, in which spontaneous recurrent or migratory venous thromboses, arterial emboli caused by nonbacterial thrombotic endocarditis, or both, develop in a patient with a recognized or occult malignant tumor. The clinical course of 3 of the patients emphasizes a key point: The occurrence for no known reason of thromboses preventable by anticoagulation therapy with heparin but not with warfarin sodium should alert a physician to focus diagnostic efforts on uncovering an underlying malignant lesion. Thromboses may occur months to years before the tumor is discovered, and a thorough negative initial examination does not obviate the need for a continuing search. Patients with Trousseau's syndrome have persistent low-grade intravascular coagulation, and therapy with heparin should be continued indefinitely. Stopping heparin therapy for even a day may permit a new thrombosis to develop. Immunostaining a biopsy specimen from 1 patient provided evidence that 2 properties of a neoplastic lesion are required for the syndrome to develop: The malignant cells express surface membrane tissue factor, and structural features of the tumor permit the malignant cells or vesicles it sheds to be exposed to circulating blood. Images PMID:8317122

Callander, N; Rapaport, S I

1993-01-01

457

Syndrome E.  

PubMed

The transformation of groups of previously nonviolent individuals into repetitive killers of defenceless members of society has been a recurring phenomenon throughout history. This transformation is characterised by a set of symptoms and signs suggesting a common syndrome--Syndrome E. Affected individuals show obsessive ideation, compulsive repetition, rapid desensitisation to violence, diminished affective reactivity, hyperarousal, environmental dependency, group contagion, and failure to adapt to changing stimulus-reinforcement associations. Yet memory, language, planning, and problem-solving skills remain intact. The main risk factors are male sex and age between 15 and 50. A pathophysiological model--"cognitive fracture"--is hypothesised, where hyperaroused orbitofrontal and medial prefrontal cortices tonically inhibit the amygdala and are no longer regulated by visceral and somatic homoeostatic controls ordinarily supplied by subcortical systems. It is proposed that the syndrome is a product of neocortical development rather than the manifestation of a disinhibited primitive brain. Early recognition of symptoms and signs could lead to prevention through education and isolation of affected individuals. PMID:9428268

Fried, I

458

Roberts syndrome  

PubMed Central

All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function. PMID:25054091

Xu, Baoshan; Lu, Shuai; Gerton, Jennifer L

2014-01-01

459

Down Syndrome: Eye Problems  

MedlinePLUS

... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

460

Learning about Down Syndrome  

MedlinePLUS

... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome. MUMS ...

461

Tics and Tourette Syndrome  

MedlinePLUS

... of people who have Tourette syndrome have this symptom. What else should I know? Many children who have Tourette syndrome also have attention-deficit hyperactivity disorder (also called ADHD). Children who have Tourette syndrome ...

462

Heart and Down Syndrome  

MedlinePLUS

... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

463

Dental Issues & Down Syndrome  

MedlinePLUS

... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

464

Anesthesia & Down Syndrome  

MedlinePLUS

... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...

465

Craniofacial Syndrome Descriptions  

MedlinePLUS

... with hemifacial microsomia. If both ears are affected Treacher Collins Syndrome may be involved. Moebius Syndrome is characterized by ... be fused. There may be a low hairline. Treacher Collins syndrome 13140 Coit Road • Suite 517 • Dallas, TX 75240 | ...

466

Multiple imaging findings in SAPHO syndrome.  

PubMed

SAPHO syndrome is an acronym for a clinical entity characterized by synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome, even though not all components always coexist. We report a case of a 62-year-old female presenting with a lytic manubrial lesion. Diagnoses of metastasis or infection were initially entertained but excluded on open biopsy, and SAPHO syndrome was confirmed on additional investigation and follow-up. Striking imaging findings included intense uptake on bone scintigraphy, photopenia on white blood cell imaging, and dramatically elevated lumbar spine bone density on dual energy x-ray absorptiometry (DXA). PMID:19033808

Pahlavan, Payam S; Leslie, William D

2008-12-01

467

Recurrent unilateral headache associated with SAPHO syndrome.  

PubMed

A 57-year-old woman was admitted with recurrent episodes of right frontal headache. Head magnetic resonance imaging (MRI) revealed extensive thickening and enhancement of the right frontal dura, muscle and fascia, as well as abnormal signal intensity and enhancement of bone marrow at the lesions. Synovitis-acne-pustulosis-hyperostosis osteomyelitis (SAPHO) syndrome was diagnosed based on the patient's 8-year history of treatment of palmoplantar pustulosis and abnormal accumulations in the right temporal, sternum, and left medial clavicula on bone scintigraphy. SAPHO syndrome may be associated with skull lesions, which can contribute to the onset of repeated headache or dural thickening, thus these symptoms should be recognized as manifestations of this syndrome. PMID:25030573

Tsugawa, Jun; Ouma, Shinji; Fukae, Jiro; Tsuboi, Yoshio

2014-01-01

468

Congenital myasthenic syndrome with episodic apnea.  

PubMed

Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in her first 6 months who underwent a prolonged evaluation before ptosis was evident, leading to a diagnosis of choline acetyltransferase deficiency, a form of congenital myasthenic syndrome. Midazolam appeared to resolve the apnea on five occasions. The diagnosis was supported by edrophonium testing and repetitive nerve stimulation. Mutation analysis demonstrated compound heterozygous p.T354M and p.A557T mutations, the latter of which is novel. The patient's respiratory status stabilized on pyridostigmine, and she is ambulatory at age 3 years. Pyridostigmine is the primary therapy for choline acetyltransferase deficiency, but the efficacy of midazolam during this patient's episodes of apnea is interesting, and warrants further study. PMID:19520274

Mallory, Leah A; Shaw, James G; Burgess, Stephanie L; Estrella, Elicia; Nurko, Samuel; Burpee, Tyler M; Agus, Michael S; Darras, Basil T; Kunkel, Louis M; Kang, Peter B

2009-07-01

469

Vernet Syndrome by Varicella-Zoster Virus  

PubMed Central

Vernet syndrome involves the IX, X, and XI cranial nerves and is most often attributable to malignancy, aneurysm or skull base fracture. Although there have been several reports on Vernet's syndrome caused by fracture and inflammation, cases related to varicella-zoster virus are rare and have not yet been reported in South Korea. A 32-year-old man, who complained of left ear pain, hoarse voice and swallowing difficulty for 5 days, presented at the emergency room. He showed vesicular skin lesions on the left auricle. On neurologic examination, his uvula was deviated to the right side, and weakness was detected in his left shoulder. Left vocal cord palsy was noted on laryngoscopy. Antibody levels to varicella-zoster virus were elevated in the serum. Electrodiagnostic studies showed findings compatible with left spinal accessory neuropathy. Based on these findings, he was diagnosed with Vernet syndrome, involving left cranial nerves, attributable to varicella-zoster virus. PMID:23869347

Jo, Yil Ryun; Chung, Chin Wook; Lee, Jung Soo

2013-01-01

470

Intraocular Lens Subluxation in Marfan Syndrome  

PubMed Central

Purpose : Ectopia lentis (EL) is a major criteria for the diagnosis of Marfan syndrome, it may vary from an asymptomatic mild displacement to a significant subluxation that places the equator of the lens in the pupillary axis. The purpose of this work is to present the case of a patient with Marfan syndrome who received treatment for subluxation at our institution. Case Report : A 51-year-old female diagnosed with Marfan syndrome presented to the emergency department with bilateral eye redness, foreign body sensation and crusting around the eyes on awakening. She had the following history of cardiac and ophthalmologic complications, including: 1. Lens subluxation 2. High myopia 3. Aortic root dilation, 4. Mitral valve prolapse and 5. Tricuspid insufficiency. Conclusion : The ophthalmological management of Marfan patients is challenging and periodical follow-up is needed. Surgical versus conservative management is controversial, each case needs to be evaluated individually to analyze the risks and benefits of the procedures. PMID:25279020

Rodrigo, Bolanos-Jimenez; Paulina, Lopez-Lizarraga E; Francesc, March de R; Eduardo, Telich-Tarriba J; Alejandro, Navas

2014-01-01

471

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.  

PubMed

Several umbilical abnormalities have been linked to and utilized to aid in the clinical diagnosis of certain syndromes. For instance, umbilical skin redundancy has long been recognized as a core feature of Rieger syndrome although its association with other disorders is unknown. In this article, we report for the first time the occurrence of this distinct clinical sign in association with two other syndromes: Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome (EDS). Our observation is clinically significant because patients with Morquio syndrome are often diagnosed only after they develop typical skeletal manifestations, which reduces the efficacy of available enzyme replacement therapy, so the umbilical sign we report here can facilitate a much earlier diagnosis. In addition, the extreme rarity of FKBP14-related Ehlers-Danlos syndrome (EDS) can greatly delay the diagnosis of this condition unless it is recognized in the differential diagnosis of redundant umbilical skin as we argue in this report. PMID:24773188

Aldeeri, A A; Alazami, A M; Hijazi, H; Alzahrani, F; Alkuraya, F S

2014-11-01

472

Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.  

PubMed

Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's