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1

Genetics Home Reference: Smith-Lemli-Opitz syndrome  

MedlinePLUS

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

2

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

School in photodermatology: Smith-Lemli-Opitz syndrome.  

PubMed

The Smith-Lemli-Opitz syndrome has only recently been added to the small number of congenital disorders characterized by photosensitivity. The clinical features of this disorder are distinct from other photosensitivity syndromes. Details on the patho-mechanism of photosensitivity in the Smith-Lemli-Opitz syndrome have yet to be fully determined. However, preliminary evidence points to the deranged cholesterol metabolism that characterizes the syndrome as causal in this UVA-mediated photosensitivity disorder. PMID:16869869

Anstey, Alex

2006-08-01

4

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management  

Microsoft Academic Search

Smith–Lemli–Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these

Forbes D Porter

2008-01-01

5

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

6

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

PubMed

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

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

2014-05-01

7

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

PubMed Central

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

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

2013-01-01

8

Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome (SLOS)  

PubMed Central

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

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

2009-01-01

9

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

PubMed Central

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

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

2014-01-01

10

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

PubMed

The Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic defect in cholesterol biosynthesis; mutations in the enzyme 3ss-hydroxysterol Delta7 reductase (Dhcr7) lead to a failure of cholesterol (and desmosterol) synthesis, with an accumulation of precursor sterols, such as 7-dehydrocholesterol. Extensive genotype-phenotype analyses have indicated that there is considerable variation in the severity of the disease, much of which is not explained by defects in the Dhcr7 gene alone. Factors ranging from variations in maternal-fetal cholesterol transfer during pregnancy, to other genetic factors have been proposed to account for this variability. Variations at the APOE locus affect plasma cholesterol levels in humans and this polymorphic gene has been found to be associated with cardiovascular as well as neurological disorders. This locus has recently been implicated in accounting for some of the variations in SLOS. To address whether maternal hypercholesterolemia can affect fetal outcome, we tested the ability of maternal hypercholesterolemia to rescue the neonatal lethality in a mouse model of SLOS. Maternal hypercholesterolemia, induced by ApoE or Ldl-r deficiency not only failed to ameliorate the postnatal lethality, it increased the prenatal mortality of Dhcr7 deficient pups. Thus the murine data suggest that maternal loss of ApoE or Ldl-r function further exacerbates the neonatal lethality, suggesting they may play a role in maternal transfer of cholesterol to the embryo. PMID:17197219

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

2007-05-01

11

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

12

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

PubMed Central

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

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

2013-01-01

13

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

PubMed Central

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

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

2010-01-01

14

Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of Smith-Lemli-Opitz Syndrome  

PubMed Central

The Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with a spectrum of serious abnormalities, including multiple dysmorphologies, failure to thrive, cognitive and behavioral impairments, and retinopathy. Using a pharmacologically induced rat model of SLOS that exhibits key hallmarks of the disease, including progressive retinal degeneration and dysfunction, we show that a high-cholesterol diet can substantially correct abnormalities in retinal sterol composition, with concomitant improvement of visual function, particularly within the cone pathway. Although histologic degeneration still occurred, a high-cholesterol diet reduced the number of pyknotic photoreceptor nuclei, relative to animals on a cholesterol-free diet. These findings demonstrate that cholesterol readily crosses the blood-retina barrier (unlike the blood-brain barrier) and suggest that cholesterol supplementation may be efficacious in treating SLOS-associated retinopathy. PMID:17314682

FLIESLER, STEVEN J.; VAUGHAN, DANA K.; JENEWEIN, ERIN C.; RICHARDS, MICHAEL J.; NAGEL, BARBARA A.; PEACHEY, NEAL S.

2007-01-01

15

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

PubMed Central

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

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

2010-01-01

16

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

17

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

PubMed Central

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

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

2013-01-01

18

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

SciTech Connect

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

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

1995-06-01

19

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome  

PubMed Central

Our recent studies have focused on cholesterol synthesis in mouse models for 7-dehydrosterolreductase (DHCR7) deficiency, also known as Smith-Lemli-Opitz syndrome. Investigations of such mutants have relied on tissue and blood levels of the cholesterol precursor 7-dehydrocholesterol (7DHC) and its 8-dehydro isomer. In this investigation by gas chromatography/mass spectrometry (GC/MS) we have identified and quantified cholesterol and its precursors (7DHC, desmosterol, lathosterol, lanosterol and cholest-7,24-dien-3?-ol) in mouse hair. The components were characterized and their concentrations were compared to those found in mouse skin and serum. Hair appeared unique in that desmosterol was a major sterol component, almost matching in concentration cholesterol itself. In DHCR7 deficient mice, dehydrodesmosterol (DHD) was the dominant hair ?7 sterol. Mutant mouse hair had much higher concentrations of 7-dehydrosterols relative to cholesterol than did serum or tissue at all ages studied. The 7DHC/C ratio in hair was typically about sevenfold the value in serum or skin and the DHD/D ratio was 100X that of the serum 7DHC/C ratio. Mutant mice compensate for their DHCR7 deficiency with maturity, and the tissue and blood 7DHC/C become close to normal. That hair retains high relative concentrations of the dehydro precursors suggests that the apparent up-regulation of Dhcr7 seen in liver is slower to develop at the site of hair cholesterol synthesis. PMID:20804844

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

2010-01-01

20

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

PubMed Central

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

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

2014-01-01

21

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

PubMed Central

Treatment of Sprague-Dawley rats with AY9944, an inhibitor of 3?-hydroxysterol-?7-reductase (Dhcr7), leads to elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in all biological tissues, mimicking the key biochemical hallmark of Smith-Lemli-Opitz syndrome (SLOS). Fourteen 7-DHC-derived oxysterols previously have been identified as products of free radical oxidation in vitro; one of these oxysterols, 3?,5?-dihydroxycholest-7-en-6-one (DHCEO), was recently identified in Dhcr7-deficient cells and in brain tissues of Dhcr7-null mouse. We report here the isolation and characterization of three novel 7-DHC-derived oxysterols (4?- and 4?-hydroxy-7-DHC and 24-hydroxy-7-DHC) in addition to DHCEO and 7-ketocholesterol (7-kChol) from the brain tissues of AY9944-treated rats. The identities of these five oxysterols were elucidated by HPLC-ultraviolet (UV), HPLC-MS, and 1D- and 2D-NMR. Quantification of 4?- and 4?-hydroxy-7-DHC, DHCEO, and 7-kChol in rat brain, liver, and serum were carried out by HPLC-MS using d7-DHCEO as an internal standard. With the exception of 7-kChol, these oxysterols were present only in tissues of AY9944-treated, but not control rats, and 7-kChol levels were markedly (>10-fold) higher in treated versus control rats. These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the pathogenesis of SLOS.—. PMID:21817059

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

2011-01-01

22

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome  

PubMed Central

Patients with Smith–Lemli–Opitz syndrome (SLOS) are born with multiple congenital abnormalities. Postnatal cholesterol supplementation is provided; however, it cannot correct developmental malformations due to in utero cholesterol deficit. Increased transport of cholesterol from maternal to fetal circulation might attenuate congenital malformations. The cholesterol transporters Abca1, Abcg1, and Sr-b1 are present in placenta; however, their potential role in placental transport remains undetermined. In mice, expression analyses showed that Abca1 and Abcg1 transcripts increased 2–3-fold between embryonic days 13.5 and 18.5 in placental tissue; whereas, Sr-b1 expression decreased. To examine the functional role of Abca1, Abcg1 and Sr-b1 we measured the maternal–fetal transfer of 14C-cholesterol in corresponding mutant embryos. Disruption of either Abca1 or Sr-b1 decreased cholesterol transfer by ?30%. In contrast, disruption of the Abcg1 had no effect. Treatment of pregnant C57Bl/6 female mice with TO901317, an LXR-agonist, increased both Abca1 expression and maternal–fetal cholesterol transfer to the fetus. In an SLOS mouse model (Dhcr7?/?), which is incapable of de novo synthesis of cholesterol, in utero treatment with TO901317 resulted in increased cholesterol content in Dhcr7?/? embryos. Our data support the hypothesis that Abca1, and possibly Sr-b1, contributes to transport maternal cholesterol to the developing fetus. Furthermore, we show, as a proof of principle, that modulating maternal–fetal cholesterol transport has potential for in utero therapy of SLOS. PMID:18775956

Lindegaard, Marie L.; Wassif, Christopher A.; Vaisman, Boris; Amar, Marcelo; Wasmuth, Elizabeth V.; Shamburek, Robert; Nielsen, Lars B.; Remaley, Alan T.; Porter, Forbes D.

2008-01-01

23

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

PubMed Central

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

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

2014-01-01

24

Steroid production and Excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in ?7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome  

PubMed Central

This study has shown that the mouse has a great increase in steroid production during pregnancy in similar fashion to the human. Many steroids were provisionally identified in maternal urine of the wild-type mouse. The major progesterone metabolites appear to be hydroxylated pregnanolones, particularly with hydroxyl groups in the 16? position. Rather than estriol being the major end-product of feto-placental steroid synthesis as in the human, the pregnant mouse produces and excretes large amounts of androgen metabolites, ranging in polarity from androstanetriols to androstanepentols. These steroids have 15?- or 18-hydroxyl groups with additional hydroxylation at uncharacterized positions. From metabolite data the peak of pregnancy progesterone production appears to be between 7.5-14.5 gestational days, while for C19 metabolites peak excretion is later. The starting-point of the studies was to study pregnancy steroid production by a mouse model for Smith-Lemli-Opitz syndrome, 7-dehydrosterol reductase (DHCR7) deficiency. In human pregnancies with DHCR7 deficient fetuses large amounts of 7- and 8-dehydrosteroids are excreted, products secondary to high fetal 7- and 8-dehydrocholesterol (DHC) accumulation. This agrees with existing evidence that human feto-placental steroid synthesis utilizes little maternal cholesterol as precursor. In contrast, this study has shown that pregnant mice carrying dhcr7 deficient fetuses with relatively high DHC production had essentially undetectable maternal excretions of steroids with ?7- and ?8- unsaturation. As mutant mouse mothers have essentially normal cholesterol production (little or no DHC build-up), this suggests maternal cholesterol is primarily utilized for pregnancy steroid synthesis in the mouse. PMID:19406241

Matabosch, Xavier; Rahman, Mahbuba; Hughes, Beverly; Patel, Shailendra B.; Watson, Gordon; Shackleton, Cedric

2010-01-01

25

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.

26

Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. PMID:20929975

Porter, Forbes D.; Herman, Gail E.

2011-01-01

27

Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS)  

MedlinePLUS

... CDC.gov . Hantavirus Share Compartir Diagnosing and Treating Hantavirus Pulmonary Syndrome (HPS) Diagnosing HPS Diagnosing HPS in ... is no specific treatment, cure, or vaccine for hantavirus infection. However, we do know that if infected ...

28

Diagnosing and treating metabolic syndrome  

Microsoft Academic Search

Recent studies have shown that approximately 22% of adults in the United States have metabolic syndrome, a loosely defined clustering of cardiovascular risk factors, including abdominal obesity, hypertriglyceridemia, low levels of high-density lipoprotein cholesterol (HDL-C), hypertension, and insulin resistance. With this syndrome looming as one of the most prevalent diseases of mankind (as well as one of the most preventable),

Richard F. Kutschman; Sue Hadley

2004-01-01

29

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

Microsoft Academic Search

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

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

2003-01-01

30

How Do Health Care Providers Diagnose Fragile X Syndrome?  

MedlinePLUS

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

31

How Do Health Care Providers Diagnose Cushing's Syndrome?  

MedlinePLUS

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

32

How Do Health Care Providers Diagnose Down Syndrome?  

MedlinePLUS

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

33

How Do Health Care Providers Diagnose Rett Syndrome?  

MedlinePLUS

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

34

How Do Health Care Providers Diagnose Prader-Willi Syndrome?  

MedlinePLUS

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

35

How Do Health Care Providers Diagnose Klinefelter Syndrome?  

MedlinePLUS

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

36

How Do Health Care Providers Diagnose Turner Syndrome?  

MedlinePLUS

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

37

Schnitzler syndrome: an under-diagnosed clinical entity  

PubMed Central

Schnitzler syndrome is considered to be a rare disorder characterized by a monoclonal IgM protein and chronic urticaria that is associated with considerable morbidity. We hypothesized that the syndrome may be under-recognized and patients may be deprived of highly effective therapy in the form of anakinra. We performed a retrospective search of the dysproteinemia database at Mayo Clinic as well as the medical records of all patients with chronic urticaria to determine the true incidence of the disease. We compared patients with the diagnosis of Schnitzler syndrome and those who met the criteria but in whom the syndrome was not recognized. Comparisons between groups were performed and survival curves determined. We identified 16 patients with diagnosed Schnitzler syndrome and an additional 46 patients who met diagnostic criteria. The monoclonal protein was IgM? in 94% of patients. Therapy with anakinra in 4 patients led to rapid and complete resolution of symptoms. The median overall survival for this syndrome is over 12.8 years. Progression to lymphoma was only observed in 8% of patients; this is lower than previous reports. Schnitzler syndrome may be present in up to 1.5% of patients with a monoclonal IgM in their serum and likely under-recognized as a clinical syndrome. PMID:23812931

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

2013-01-01

38

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

PubMed Central

A male child with multiple congenital anomalies initially was clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS). Subsequent cytogenetic studies revealed an interstitial deletion of 17p11.2, which is associated with Smith-Magenis syndrome (SMS). Biochemical studies were not supportive of a diagnosis of SLOS, and the child did not display the typical SMS phenotype. The father's karyotype showed a paracentric inversion of 17p, with breakpoints in p11.2 and p13.3, and the same inversion was also found in two of the father's sisters. FISH analyses of the deleted and inverted 17p chromosomes indicated that the deletion was similar to that typically seen in SMS patients and was found to bracket the proximal inversion breakpoint. Available family members were genotyped at 33 polymorphic DNA loci in 17p. These studies determined that the deletion was of paternal origin and that the inversion was of grandpaternal origin. Haplotype analysis demonstrated that the 17p11.2 deletion arose following a recombination event involving the father's normal and inverted chromosome 17 homologues. A mechanism is proposed to explain the simultaneous deletion and apparent "reinversion" of the recombinant paternal chromosome. These findings have implications for prenatal counseling of carriers of paracentric inversions, who typically are considered to bear minimal reproductive risk. Images Figure 1 Figure 2 Figure 3 PMID:9150166

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

1997-01-01

39

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

PubMed

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

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

2014-11-01

40

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

E-print Network

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

41

Asperger's syndrome: differences between parents' understanding and those diagnosed.  

PubMed

This paper reports on a content analysis of blogs written by people with Asperger's syndrome (AS), as well as people who are parents and caretakers of people with AS. The paper documents that the views of the two groups, based on 30 blogs from each perspective, are frequently oppositional to one another. Whereas the parents and caretakers usually accept the medical definition of the situation and seek assistance and a cure for their children, the Aspies argue against this pathologizing and medicalizing perspective. Those diagnosed with AS say they are happy with who they are and that any suffering they may have undergone has been the result of society and not inherent in their condition. The paper concludes with a discussion of the theoretical, methodological, substantive, and practical implications of these findings. PMID:18551831

Clarke, Juanne; van Amerom, Gudrun

2008-01-01

42

Hidden treasure in an endoscopically retrieved oesophageal trichobezoar  

PubMed Central

A 12-year-old girl with Smith-Lemli-Opitz syndrome and gastrostomy dependency presented with multiple episodes of coffee ground vomits. An upper gastrointestinal endoscopy revealed a trichobezoar in the lower oesophagus, with a ‘hidden treasure’—a retained end of a G tube at the core. Endoscopic retrieval led to resolution of symptoms. Literature is scant with only one previous report of an oesophageal trichobezoar. Techniques of removal of percutaneous endoscopic gastrostomy in children are reviewed. The pathogenesis, preventative measures and management for oesophageal trichobezoars are discussed. PMID:23334492

Renji, Elizabeth; Nathan, Anand K; Dalzell, Mark A

2013-01-01

43

Prader-Willi syndrome can be diagnosed prenatally.  

PubMed

The aim of this study was to characterize the fetal phenotype of a cohort of individuals with confirmed diagnoses of Prader-Willi syndrome (PWS), a severe multi-system genetic disorder, diagnosed by a specific methylation test. We interviewed mothers of 106 individuals with PWS to obtain information about the pregnancy of their affected child. For 47 pregnancies of children younger than 10 years, we also reviewed the obstetric ultrasound and detailed obstetric history from medical records. We compared the PWS pregnancies with those of the sibling closest in age and with the general population. McNemars, Chi-square and Fisher exact tests were used for statistical analyses. Decreased fetal movements, small for gestational age (SGA), asymmetrical intrauterine growth (increased head/abdomen circumferences ratio) and polyhydramnios were found in 88%, 65%, 43%, and 34%, respectively (P?

Gross, Noa; Rabinowitz, Ron; Gross-Tsur, Varda; Hirsch, Harry J; Eldar-Geva, Talia

2015-01-01

44

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

ERIC Educational Resources Information Center

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

Vernon, McCay

1982-01-01

45

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

MedlinePLUS

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

46

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

47

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

ERIC Educational Resources Information Center

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

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

2009-01-01

48

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

ERIC Educational Resources Information Center

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

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

2014-01-01

49

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

Microsoft Academic Search

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

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

2001-01-01

50

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

MedlinePLUS

... Trials Resources and Publications 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 ...

51

microRNAs: A connection between cholesterol metabolism and neurodegeneration.  

PubMed

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

Goedeke, Leigh; Fernández-Hernando, Carlos

2014-12-01

52

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

ERIC Educational Resources Information Center

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

Nieuwenhuis-Mark, Ruth E.

2009-01-01

53

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

54

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

Microsoft Academic Search

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

Ruth E. Nieuwenhuis-Mark

2009-01-01

55

The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.  

PubMed

Prenatal detection of fetal anomalies is one of the major goals of obstetrical ultrasound. The primary reason is the options that are often offered to the family and caregivers from therapy in selected cases to special care at delivery to termination of the pregnancy. An important aspect of the diagnosis is to determine whether the anomaly is expected to be lethal or associated with severe physical or mental impediments. This goal is often difficult to accomplish without a clear diagnosis. A systematic approach is essential when an abnormality is first identified sonographically to help the practitioner discover certain patterns of associated defects. The use of this logical and stepwise strategy facilitates arriving at the correct diagnosis of specific syndrome by taking all anatomic findings into account. This process focuses on first pinpointing a key or sentinel feature specific to each syndrome and which can anchor the diagnosis. PMID:22343241

Benacerraf, Beryl B

2012-03-01

56

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

Microsoft Academic Search

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

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

1998-01-01

57

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

PubMed

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

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

2014-12-10

58

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

59

Difficulties diagnosing the multiple personality syndrome in a death penalty case  

Microsoft Academic Search

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

Ralph B. Allison

1984-01-01

60

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

61

Ambiguous genitalia: what prenatal genetic testing is practical?  

PubMed

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

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

2012-06-01

62

Fuchs' syndrome (stevens-johnson syndrome without skin involvement) in an adult male - a case report and general characteristics of the sporadically diagnosed disease.  

PubMed

Fuchs' syndrome (Stevens-Johnson syndrome without skin involvement) is a sporadically diagnosed disease. Most authors consider it to be a pure mucosal variant of Stevens-Johnson syndrome; however, some consider the syndrome a separate entity. The complete absence of cutaneous symptoms may be the reason that not all cases of Fuchs' syndrome are diagnosed and properly classified. The authors describe a case of a 22-year-old patient suffering only from mucosal symptoms, diagnosed as Fuchs' syndrome from the context of the tests performed. A Mycoplasma pneumoniae infection triggered the disease onset. Mycoplasma infection, as a trigger factor of Fuchs' syndrome in adults, has so far been described in only a few isolated cases worldwide. PMID:25580788

Šternberský, Jan; Tichý, Martin

2014-12-01

63

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

64

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

65

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

PubMed Central

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

Wu, Tao; Yang, Ming; Liu, Tao

2015-01-01

66

Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.  

PubMed

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene. PMID:24754368

Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

2014-08-01

67

Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing  

PubMed Central

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene. PMID:24754368

Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina

2014-01-01

68

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

Microsoft Academic Search

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

James Holdnack; Gerald Goldstein; Lisa Drozdick

2011-01-01

69

Syndromic Surveillance for Bioterrorism Using Automated Collection of Computerized Discharge Diagnoses  

PubMed Central

The Syndromic Surveillance Information Collection (SSIC) system aims to facilitate early detection of bioterrorism (BT) attacks through automated data collection of visit level discharge diagnoses from heterogeneous clinical information systems, integration of those data into a common XML (Extensible Markup Language) format, and monitoring of the results to detect unusual patterns of illness in the population. The system, operational since January 2001, collects, integrates, and displays data from three emergency and urgent care (ED/UC) departments and nine primary care clinics, by automatically gathering data from the information systems of those facilities.

Lober, WB; Trigg, LJ; Karras, BT; Bliss, D; Ciliberti, J; Stewart, L; Duchin, JS

2002-01-01

70

[Is bioptic assurance reasonable in patients with Sjögren's syndrome? From focus score to diagnosing vasculitides].  

PubMed

Sjögren's syndrome is an autoimmune disease which targets the salivary and lacrimal glands in particular, causing sicca syndrome. Extraglandular manifestations are often seen. Chronic sialadenitis of the parotid gland is the most common symptom to be assessed for differential diagnosis. Common HE and Giemsa slices are histopathologically examined and graduated for lymphocyte infiltration (focus): grade 0: absent, grade 1: slight, grade 2: moderate non-focal infiltration, grade 3: 1 focus (> or =50 lymphocytes) per 4 mm2, grade 4: >1 focus. Grade 3 infiltrates correspond to a focus score of 1, which is one of four disease-classifying criteria acknowledged for diagnosis. Bioptic examination is also performed to rule out different (non-) immunologic sialadenitises, such as the necrotizing or epithelioid-like form (in sarcoidosis), and the extranodal marginal-zone lymphoma. Extraglandular manifestations of Sjögren's syndrome can also be safely diagnosed by histopathological examination. Emphases lie on vasculitides and myositides. Bioptic work-up, therefore, is not only reasonable but also an essential tool for diagnostics in Sjögren's syndrome. PMID:19997922

Krenn, V; Jakobs, M; Kriegsmann, J; Krukemeyer, M G; Rieger, A

2010-02-01

71

Progressing subglottic and tracheobronchial stenosis in a patient with CHARGE syndrome diagnosed in adulthood  

PubMed Central

A 33-year-old woman was admitted for a pseudocroup-like cough and wheezing after general anesthesia. Several months ago, she had undergone cardiac re-operation and turbinectomy, both of which had involved difficult intubations. Bronchoscopy indicated a pin-hall-like subglottic stenosis; therefore, emergency tracheotomy was performed. Six years later, a computed tomography scan demonstrated progressive stenosis of the entire circumference of the trachea and main bronchi. She died at 40 years. Her autopsy revealed marked tracheobronchial stenosis. She had many medical histories that had gone undiagnosed and had been clinically ill with only heart defects. She did not have coloboma but had microphthalmos, atresia choanae, retarded growth development, and deafness; thus, we diagnosed CHARGE syndrome that refers to multiple congenital anomalies, including airway abnormalities, which can lead to secondary complications such as traumatic stenosis after intubation. Physicians should have knowledge of this rare disease and should pay special attention to potential airway problems.

Komatsuzaki, Keiko Mitaka; Shimomura, Shinichi; Tomishima, Yutaka; Honda, Takayuki; Fukasawa, Kazuhiro; Oyama, Toshio; Miyashita, Yoshihiro

2014-01-01

72

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

SciTech Connect

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

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

1997-01-31

73

Lipid rafts, cholesterol, and the brain  

PubMed Central

Summary Lipid rafts are specialized membrane microdomains that serve as organizing centers for assembly of signaling molecules, influence membrane fluidity and trafficking of membrane proteins, and regulate different cellular processes such as neurotransmission and receptor trafficking. In this article, we provide an overview of current methods for studying lipid rafts and models for how lipid rafts might form and function. Next, we propose a potential mechanism for regulating lipid rafts in the brain via local control of cholesterol biosynthesis by neurotrophins and their receptors. Finally, we discuss evidence that altered cholesterol metabolism and/or lipid rafts play a critical role in the pathophysiology of multiple CNS disorders, including Smith-Lemli-Opitz syndrome, Huntington, Alzheimer's, and Niemman-Pick Type C diseases. PMID:18402986

Korade, Zeljka; Kenworthy, Anne K.

2008-01-01

74

Alcohol withdrawal syndrome: how to predict, prevent, diagnose and treat it.  

PubMed

(1) When people who are physically dependent on alcohol stop drinking, they experience an alcohol withdrawal syndrome. The symptoms generally resolve spontaneously within a week, but more severe forms may be associated with generalised seizures, hallucinations and delirium tremens, which can be fatal. (2) We carried out a literature review in order to obtain answers to the following questions: how to predict or rapidly diagnose a severe alcohol withdrawal syndrome; how to prevent and treat this syndrome; how to manage severe forms; and how to deal with the risk of vitamin B1 deficiency. (3) The main risk factors for severe withdrawal syndrome are: chronic heavy drinking; a history of generalised seizures; and a history of delirium tremens. (4) Anxiety, agitation, tremor, excessive sweating, altered consciousness and hallucinations are signs of a severe withdrawal syndrome. (5) Individual support and effective communication seem to reduce the risk of severe withdrawal syndrome. (6) Oral benzodiazepines are the best-assessed drugs for preventing a severe alcohol withdrawal syndrome, particularly the risk of seizures. When given for a maximum of 7 days, the adverse effects are usually mild. (7) Clinical trials of other antiepileptics suggest they are less effective than benzodiazepines, and their addition to benzodiazepine therapy offers no tangible advantage. (8) Betablockers increase the risk of hallucinations, and clonidine increases the risk of nightmares, and the efficacy of these two drugs is not well documented. Neuroleptics increase the risk of seizures. There are no convincing data to support the use of magnesium sulphate or meprobamate (the latter carries a risk of serious adverse effects). Acamprosate, naltrexone and disulfiram are not beneficial in alcohol withdrawal. (9) Gradual withdrawal, i.e. ingestion of decreasing amounts of alcohol, has not been compared with other methods but is generally not recommended. (10) There are no specific recommendations on hydration. Note that excessive water-sodium intake carries a risk of pulmonary oedema in patients with heart disease. (11) As vitamin B1 deficiency is frequent and can lead to serious complications in alcohol-dependent patients, oral vitamin B1 supplementation is widely recommended, despite the absence of comparative trials. High doses must be used to compensate for poor absorption. Intravenous administration is best if patients have very poor nutritional status or severe complications such as Gayet-Wernicke encephalopathy (a medical emergency), even though rare anaphylactic reactions have been reported after vitamin B1 injection. (12) Planned alcohol withdrawal in specialised hospital units has been extensively studied. Outpatient withdrawal may be more appropriate for patients who are at low risk of developing severe withdrawal syndrome. (13) A large proportion of alcohol-dependent patients were excluded from trials of withdrawal strategies. These include elderly patients, patients with serious psychiatric or somatic disorders, and patients who are also dependent on other substances. (14) An oral benzodiazepine is the best-assessed treatment for a single episode of generalised seizures or hallucinations during alcohol withdrawal. (15) In randomised comparative trials benzodiazepines were more effective than neuroleptics in preventing delirium-related mortality. Currently, with appropriate fluid-electrolyte support, continuous monitoring of vital signs, and respiratory support if necessary, the mortality rate for delirium tremens is under 3%. (16) In practice, patients who are attempting to stop drinking alcohol need close personal support and communication, and a reassuring environment, as well as regular monitoring for early signs of a withdrawal syndrome; the latter may require benzodiazepine therapy. PMID:17323538

2007-02-01

75

Rapid or Normal Gastric Emptying as New Supportive Criteria for Diagnosing Cyclic Vomiting Syndrome in Adults  

PubMed Central

Background Cyclic vomiting syndrome (CVS) in adults is a disorder characterized by recurrent and stereotypic episodes of severe nausea, vomiting and abdominal pain separated by symptom-free intervals. Our goal was to investigate gastric emptying (GE) in CVS patients. Material/Methods This was a retrospective study of 30 adult patients who met Rome III diagnostic criteria for CVS. Rapid GE was defined using two different predefined criteria as either <50% isotope retention or <65% isotope retention at 1st hour and/or <20% at 2nd hour. Results Of the 30 patients (25 had 4-hr GE) diagnosed with CVS, 22 were females and 8 males with a mean age of 39 years. Overall, 20 (80%) of the 25 CVS patients met the predefined criteria of <50% retention for rapid GE in the first hour. Fifteen (60%) met the 2-hour criteria for rapid emptying of <20% retention. Five (16.6%) patients of the 25 had a normal GE with a mean retention at the first hour of 65% (52–78%). Nine (36%) also met another predefined criteria of <35% retention for rapid GE in the first hour. Sixteen (64%) met criteria for normal GE. Conclusions (1) In adult CVS patients, GE is either rapid or normal, clearly distinguishing this entity from gastroparesis. (2) Cyclic vomiting syndrome is an important new etiology to explain the finding of rapid GE on a radionuclide test. (3) We suggest that rapid gastric emptying should be added as supportive criteria for diagnosing CVS in adults. PMID:25145650

Cooper, Chad J.; Said, Sarmad; Bizet, Jorge; Alkhateeb, Haider; Sarosiek, Irene; McCallum, Richard W.

2014-01-01

76

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

ERIC Educational Resources Information Center

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

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

2006-01-01

77

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

Microsoft Academic Search

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

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

2005-01-01

78

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

79

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

80

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

81

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

E-print Network

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

82

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

83

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

Microsoft Academic Search

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

Oren Shtayermman

2008-01-01

84

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

PubMed

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

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

2015-02-01

85

POEMS Syndrome in a 20-year-old Patient Diagnosed Following a Complaint of Reduced Visual Acuity.  

PubMed

We report a case of POEMS syndrome in a 20-year-old patient diagnosed after visiting an eye clinic with a chief complaint of reduced visual acuity. A male university student aged 20 years was referred to our department complaining of blurred vision in both eyes that had persisted for 1 month. He also noted headache, nausea, and paresthesia in the lower extremities around the same time. The visual acuity of his right and left eye was 20/40 and 20/20, respectively. Optic disc edema and serous retinal detachment were present. Brain magnetic resonance imaging showed no intracranial abnormalities, while elevated cerebrospinal fluid pressure, reduced nerve conduction velocity in both lower extremities, hepatosplenomegaly, M proteinemia, high blood VEGF levels, osteoblastic and osteolytic changes in the spine, and atypical plasma cells in bone lesions were noted. From the above findings, the patient was diagnosed with POEMS syndrome. He received high-dose dexamethasone, thalidomide, and radiotherapy on the sacral mass, followed by high-dose melphalan with autologous stem-cell support, and showed subsequent systemic and ophthalmologic improvement. Here, we report the youngest case ever of POEMS syndrome with ocular manifestation. If patients have optic disc edema in both eyes with no intracranial space-occupying lesion, POEMS syndrome should be considered in differential diagnosis, regardless of age. PMID:25519033

Doi, Shinichiro; Kimura, Shuhei; Morizane, Yuki; Hosogi, Mika; Hosokawa, Mio; Shiode, Yusuke; Kawata, Tetsuhiro; Kondo, Eisei; Shiraga, Fumio

2014-12-01

86

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

87

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

SciTech Connect

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

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

1996-01-02

88

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

PubMed Central

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

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

2014-01-01

89

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

Microsoft Academic Search

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

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

2009-01-01

90

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

Microsoft Academic Search

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

Elizabeth M. Armstrong

1998-01-01

91

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

PubMed Central

SYNOPSIS Cytokine Storm Syndromes (CSS) are a group of disorders representing a variety of inflammatory etiologies with the final common result of overwhelming systemic inflammation, hemodynamic instability, multiple organ dysfunction, and potentially death. The hemophagocytic syndromes hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) represent two clinically similar CSS with an unknown degree of pathoetiologic overlap. The clinical presentations of all CSS can be strikingly similar, creating diagnostic uncertainty. However, clinicians should avoid the temptation to treat all CSS equally, as their inciting inflammatory insults vary widely. Failure to identify and address this underlying trigger will result in delayed, inoptimal, or potentially harmful consequences. This review endeavors to place the hemophagocytic syndromes HLH and MAS within a conceptual model of CSS, and thus provide a logical framework for diagnosis and treatment of CSS of suspected rheumatic origin. PMID:22560573

Canna, Scott W.

2012-01-01

92

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

SciTech Connect

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

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

1990-03-01

93

[Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies].  

PubMed

We describe a simple procedure to use skin biopsies for the diagnosis of Alport syndrome. The technique is based on the co-detection of alpha5 and alpha2 chains of collagen IV along the basal lamina of epidermis through an immunfluorescence technique. Eighty-five per cent of the cases of Alport syndrome are due to a mutation in the gene COL4A5, located on chromosome X, encoding the alpha5 chain of collagen IV. In this situation, the tissue expression of alpha5 chain is abnormal; in males, the absence of expression of alpha5 chain is pathognomonic for Alport syndrome; in females, the expression of alpha5 chain may be discontinuous because of X inactivation. The alpha2 chain is used as a positive control. We have studied skin biopsies from 55 patients (35 females, 20 males) with a suspicion of Alport syndrome, along with five controls. Immunofluorescence was performed on frozen tissue samples; for lecture, epifluorescence and confocal microscopy were compared. In controls, both chains were co-detected. In nine males out of 20, the expression of alpha5 was undetectable; it was preserved in the remaining cases. In female patients, the expression was discontinuous in 16 cases and undetectable in one. There was no difference in sensitivity between the two microscopic techniques. The co-detection of alpha5 and alpha2 chains of collagen IV in frozen skin biopsies is therefore proposed as a simple technique to diagnose Alport syndrome, but requires a good knowledge of the conditions of interpretation. PMID:18706356

Patey-Mariaud de Serre, Natacha; Noël, Laure-Hélène

2008-06-01

94

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

ClinicalTrials.gov

Adult Acute Basophilic Leukemia; Adult Acute Eosinophilic Leukemia; Adult Acute Megakaryoblastic Leukemia (M7); Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Erythroleukemia (M6a); Adult Pure Erythroid Leukemia (M6b); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

2014-05-09

95

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

PubMed

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

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

2014-12-01

96

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

PubMed

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

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

2012-10-01

97

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

98

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

99

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

100

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children  

Microsoft Academic Search

Steroid-resistant nephrotic syndrome (NS) remains one of the most intractable causes of end-stage renal disease in the first\\u000a two decades of life. Several genes have been involved including NPHS1, NPHS2, WT1, PLCE1, and LAMB2. Our aim was to identify causative mutations in these genes, in 24 children belonging to 13 families with NS manifesting\\u000a with various ages of onset. We

Ibtihel Benhaj Mbarek; Saoussen Abroug; Asma Omezzine; Audrey Pawtowski; Marie Claire Gubler; Ali Bouslama; Abdelaziz Harbi; Corinne Antignac

2011-01-01

101

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

Microsoft Academic Search

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

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

2003-01-01

102

Irreversible Horner's syndrome diagnosed by aproclonidine test due to benign thyroid nodule.  

PubMed

We are reporting an irreversible Horner Syndrome (HS) in a patient with benign thyroid gland nodule in which thyroidectomy was performed for treatment. A 37-year-old female was admitted to our clinic with a swelling in the left lobe of the thyroid gland and ptosis at the left eyelid. The clinical diagnosis of HS was confirmed pharmacologically by aproclonidine. Histopathologic examination of thyroidectomy specimen was reported as benign nodule. To the best of our knowledge, this is a very rare report in terms of thyroid benign nodule associated with irreversible HS due to cervical sympathetic chain compression. PMID:24353546

M, Coskun; A, Aydogan; C, Gokce; O, Ilhan; Ov, Ozkan; H, Gokce; H, Oksuz

2013-01-01

103

Irreversible Horner’s syndrome diagnosed by aproclonidine test due to benign thyroid nodule  

PubMed Central

We are reporting an irreversible Horner Syndrome (HS) in a patient with benign thyroid gland nodule in which thyroidectomy was performed for treatment. A 37-year-old female was admitted to our clinic with a swelling in the left lobe of the thyroid gland and ptosis at the left eyelid. The clinical diagnosis of HS was confirmed pharmacologically by aproclonidine. Histopathologic examination of thyroidectomy specimen was reported as benign nodule. To the best of our knowledge, this is a very rare report in terms of thyroid benign nodule associated with irreversible HS due to cervical sympathetic chain compression. PMID:24353546

M, Coskun; A, Aydogan; C, Gokce; O, Ilhan; OV, Ozkan; H, Gokce; H, Oksuz

2013-01-01

104

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

105

Two Cases of Chromosome 22q11.2 Deletion Syndrome Diagnosed in 12-Year-Old Boys with Hypocalcemic Seizures  

PubMed Central

Chromosome 22q11.2 deletion syndrome is the most common interstitial deletion syndrome. Major clinical manifestation includes hypocalcemia secondary to hypoparathyroidim. At least 10% of the patients with this syndrome had hypocalcemic seizures which are generally improved over the first year of life because of the increase of parathyroid gland hypertrophy and dietary calcium intake. We present two cases of this syndrome diagnosed in 12-year-old boys with new onset hypocalcemic seizures. This case report hopes to call attention to this syndrome as a potential cause of hypocalcemic seizures even after the neonatal period. Furthermore, our first patient showed inheritance from a paternal deletion which is not as common as maternal deletions. This is the first case report of hypocalcemic seizure with a paternally inherited 22q11.2 deletion in Korea. PMID:24649462

Hyun, Jae Won; Chung, Hwa Kyoung; Kim, Sung-Hee; Choi, Ye Ji; Kim, Sung Jin; Kim, Hae Soon; Lee, Hyang Woon

2012-01-01

106

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

107

Septal cartilage plug technique in spontaneous cerebrospinal fluid rhinorrhea postoperatively diagnosed with partial empty sella syndrome.  

PubMed

The otolaryngologist should consider empty sella syndrome for diagnostic guidance when evaluating patients with nontraumatic spontaneous cerebrospinal fluid (CSF) rhinorrhea. The radiographic finding of empty sella is frequently reported in patients with benign intracranial hypertension (BIH). Patients who have a spontaneous CSF leak in the absence of florid symptoms of BIH may have a disrupted pattern of CSF flow, and because they are actively leaking CSF before surgical repair, they may be at risk for developing elevated intracranial pressure and BIH after the CSF leaks have been successfully closed. We describe a patient with CSF rhinorrhea who developed headache, papilledema, and visual disturbance after surgical repair of the CSF leak. The leak was repaired by the placement of a septal cartilage plug with a free mucosal suture graft. This technique provides fundamental biomechanical stability, reduces the complexity of the multilayer packing method, and promotes an effective seal. PMID:24911604

Chang, Chul

2014-07-01

108

Catastrophic antiphospholipid syndrome: how to diagnose a rare but highly fatal disease  

PubMed Central

Antiphospholipid syndrome (APS) is a multisystem autoimmune condition characterized by vascular thromboses and/or pregnancy loss associated with persistently positive antiphospholipid antibodies (aPL). Catastrophic APS (CAPS) is the most severe form of APS with multiple organ involvement developing over a short period of time, usually associated with microthrombosis. ‘Definite’ and ‘probable’ CAPS have been defined based on the preliminary classification criteria; however, in a real-world setting, aPL-positive patients with multiple organ thromboses and/or thrombotic microangiopathies exist who do not fulfill these criteria. Previous APS diagnosis and/or persistent clinically significant aPL positivity is of great importance for the CAPS diagnosis; however, almost half of the patients who develop CAPS do not have a history of aPL positivity. The purpose of this paper is to summarize the diagnostic challenges and the recently updated diagnostic algorithms for CAPS providing a ‘step-by-step’ approach for clinicians (and researchers) in the assessment of patients with multiple organ thromboses. PMID:24294304

Erkan, Doruk

2013-01-01

109

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

PubMed Central

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

2014-01-01

110

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

111

Bronchoalveolar Lavage as a Tool to Predict, Diagnose, and Understand Bronchiolitis Obliterans Syndrome  

PubMed Central

Bronchiolitis obliterans syndrome (BOS), a condition of irreversible small airway fibrosis, is the principal factor limiting long-term survival after lung transplantation. Bronchoscopy and bronchoalveolar lavage (BAL), techniques central to lung transplant clinical practice, provide a unique opportunity to interrogate the lung allograft during BOS development and identify potential disease mechanisms or biomarkers. Over the past twenty years, numerous studies have evaluated the BAL cellular composition, cytokine profiles, and protein constituents in lung transplant recipients with BOS. To date, however, no summative evaluation of this literature has been reported. We developed and applied objective criteria to qualitatively rank the strength of associations between BAL parameters and BOS in order to provide a comprehensive and systematic assessment of the literature. Our analysis indicates that several BAL parameters, including neutrophil count, interleukin-8, alpha defensins, and MMP-9, demonstrate highly replicable associations with BOS. Additionally, we suggest that considerable opportunity exists to increase the knowledge gained from BAL analyses in BOS through increased sample sizes, covariant adjustment, and standardization of BAL technique. Further efforts to leverage analysis of BAL constituents in BOS may offer great potential to provide additional in-depth and mechanistic insights into the pathogenesis of this complex disease. PMID:23356456

Kennedy, Vanessa E.; Todd, Jamie L.; Palmer, Scott M.

2012-01-01

112

Improved diagnoses and quantification of Fusarium virguliforme, causal agent of soybean sudden death syndrome.  

PubMed

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

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

2014-10-10

113

Severe case of peripheral leukocytosis initially diagnosed as myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, but possibly prefibrotic primary myelofibrosis.  

PubMed

Leukocytosis is occasionally seen in patients with presumptive but undiagnosed myeloproliferative disorders (MPD). A 74-year-old woman was admitted to our hospital for tarry stools, anemia, and marked peripheral leukocytosis of 1.4×105/?L. Gastroenteroscopy revealed an acute gastric and duodenal mucosal lesion that was treated successfully via endoscopic hemoclipping. Bone marrow aspiration revealed marked megakaryocyte proliferation with atypia of naked nuclei and marrow hypercellularity (90% cellularity). A fluorescence in situ hybridization test could not detect the BCR-ABL fusion gene. Bone marrow aspiration later revealed further abnormalities of megakaryocytes. The patient died from cerebral bleeding. The present case fulfilled 2 of the 3 major criteria of primary myelofibrosis according to the World Health Organization 2008 classification:namely, megakaryocytic hyperplasia with hypercellular marrow and granulocytic hyperplasia. However, the megakaryocytic abnormality was not strictly compatible with the criteria. Instead, we considered prefibrotic primary myelofibrosis as a possibility, although myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U) was technically the correct diagnosis. The present case shows that MPN diagnosis remains difficult and suggests that other cases of peripheral leukocytosis with diagnosed MDS/MPN-U might include similar findings. PMID:25519030

Ota, Seisuke; Hiramatsu, Yasushi; Kondo, Eisei; Kasahara, Akinori; Takada, Saimon; Umeda, Sachio; Noguchi, Toshio; Tanimoto, Mitsune; Matsumura, Tadashi

2014-12-01

114

High insulin levels in newly diagnosed breast cancer patients reflect underlying insulin resistance and are associated with components of the insulin resistance syndrome  

Microsoft Academic Search

Background High insulin levels have been associated with poor outcomes in breast cancer. Our goal was to investigate whether hyperinsulinemia\\u000a was associated with insulin resistance in a cohort of newly diagnosed locoregional breast cancer patients and to examine associations\\u000a of hyperinsulinemia with the broader insulin resistance syndrome (IRS). Methods Five hundred and four women with T1-3, N0-1, M0 breast cancer

Pamela J. Goodwin; Marguerite Ennis; Mala Bahl; I. George Fantus; Kathleen I. Pritchard; Maureen E. Trudeau; Jarley Koo; Nicky Hood

2009-01-01

115

The Oklahoma thrombotic thrombocytopenic Purpura-Hemolytic uremic syndrome (TTP-HUS) registry: a community perspective of patients with clinically diagnosed TTP-HUS  

Microsoft Academic Search

The Oklahoma Thrombotic Thrombocytopenic Purpura-Hemolytic Uremic Syndrome (TTP-HUS) Registry enrolls all consecutive patients for whom plasma exchange treatment is requested for clinically diagnosed TTP-HUS within a defined geographic region. During 14.5 years, from January 1, 1989 until June 30, 2003, 301 patients have been enrolled; follow-up is complete on 300 patients. Clinical categories have been designated based on associated conditions

James N George; Sara K Vesely; Deirdra R Terrell

2004-01-01

116

'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome.  

PubMed

There is no formal association between premature coronary artery disease (CAD) and Prader-Willi syndrome despite its association with hyperlipidaemia, diabetes mellitus and hypertension. A 36-year-old man with Prader-Willi syndrome presented with acute breathlessness. Inflammatory markers were borderline elevated and chest radiography demonstrated unilateral diffuse alveolar shadowing. Bronchopneumonia was diagnosed and despite treatment with multiple courses of antimicrobial therapy, there was minimal symptomatic and radiographical improvement. A diagnosis of unilateral pulmonary oedema was suspected. Echocardiography was non-diagnostic due to body habitus and coronary angiography was deemed inappropriate due to uncertainty in diagnosis, invasiveness and pre-existing chronic kidney disease. Therefore, cardiac magnetic resonance was performed, confirming severe triple-vessel CAD. This case demonstrates a presentation of heart failure with unilateral chest radiograph changes in a young patient with Prader-Willi syndrome and severe premature CAD detected by multiparametric cardiac magnetic resonance imaging. PMID:23704427

Jabbar, Avais; Khan, Jamal N; Singh, Anvesha; McCann, Gerry P

2013-01-01

117

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

118

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

PubMed Central

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

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

2006-01-01

119

Metabolic Syndrome  

MedlinePLUS

... is a signal that someone could be on the road to serious health problems. Diagnosing metabolic syndrome helps ... like heart disease or type 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is ...

120

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

ClinicalTrials.gov

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

2014-12-12

121

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

122

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

123

Cholesterol: Its Regulation and Role in Central Nervous System Disorders  

PubMed Central

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

Orth, Matthias; Bellosta, Stefano

2012-01-01

124

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO.  

PubMed

A new mechanism for formation of 7-ketocholesterol was recently described involving cytochrome P-450 (CYP)7A1-catalyzed conversion of 7-dehydrocholesterol into 7-ketocholesterol with cholesterol-7,8-epoxide as a side product. Some patients with cerebrotendinous xanthomatosis (CTX) and all patients with Smith-Lemli-Opitz syndrome (SLO) have markedly increased levels of 7-dehydrocholesterol in plasma and tissues. In addition, the former patients have markedly upregulated CYP7A1. We hypothesized that these patients may produce 7-ketocholesterol from 7-dehydrocholesterol with formation of cholesterol-7,8-epoxide as a side product. In accord with this hypothesis, two patients with CTX were found to have increased levels of 7-ketocholesterol and 7-dehydrocholesterol, as well as a significant level of cholesterol-7,8-epoxide. The latter steroid was not detectable in plasma from healthy volunteers. Downregulation of CYP7A1 activity by treatment with chenodeoxycholic acid reduced the levels of 7-ketocholesterol in parallel with decreased levels of 7-dehydrocholesterol and cholesterol-7,8-epoxide. Three patients with SLO were found to have markedly elevated levels of 7-ketocholesterol as well as high levels of cholesterol-7,8-epoxide. The results support the hypothesis that 7-dehydrocholesterol is a precursor to 7-ketocholesterol in SLO and some patients with CTX. PMID:24771866

Björkhem, Ingemar; Diczfalusy, Ulf; Lövgren-Sandblom, Anita; Starck, Lena; Jonsson, Monica; Tallman, Keri; Schirmer, Henrik; Ousager, Lilian Bomme; Crick, Peter J; Wang, Yuqin; Griffiths, William J; Guengerich, F Peter

2014-04-25

125

Clinical potential of in vitro measured red cell deformability, a myth?  

PubMed

For many years the study of Red Blood Cell (RBC) deformability has been limited to specialised hematological research institutes and this has hampered a widespread clinical testing of this dynamic RBC property. Consequently, the clinical relevance of such in vitro measurements has remained questionable now for a considerable time. The recent availability of the LORCA, a routinely applicable and computer assisted instrument for this purpose, opens now the possibility to evaluate RBC deformability on a large scale in various pathological situations associated with impaired microcirculatory flow. In this communication we present our clinical experience obtained thusfar with this instrument. Besides the effect of physiological aging of normal RBC, the results of a clinical study on malaria tropica, case studies of hereditary elliptocytosis, Smith-Lemli-Opitz syndrome (a cholesterol biosynthesis defect), the treatment of sickle cell crisis with hydroxy-urea as well as the clinical intervention with Cyclosporin, are collected. In conclusion, it can be stated that the limited clinical experience with the LORCA as is reported here, yields sufficient evidence about the clinical potential of this technique. PMID:10711755

Hardeman, M R; Ince, C

1999-01-01

126

[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].  

PubMed

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required. PMID:23868653

Amrhein, P; Sittel, C; Spaich, C; Kohlhase, J; Boppert, R; Kohlhof, P; Koitschev, A

2014-05-01

127

Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome.  

PubMed

Spontaneous pneumothorax in the elderly commonly occurs due to underlying pulmonary diseases, such as chronic obstructive pulmonary disease, interstitial lung disease, lung cancer, etc. A 73-year-old woman developed pneumothorax for the first time that was a clinical clue to a diagnosis of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition characterized by fibrofolliculomas of the skin, renal tumors and multiple lung cysts predisposing to pneumothorax. Although BHDS patients frequently develop pneumothorax during their twenties to forties, the present case indicates that BHDS should be considered as an underlying cause of pneumothorax in the elderly with undisclosed BHDS. PMID:24190151

Kunogi Okura, Makiko; Yae, Toshifumi; Nagashima, Osamu; Hirai, Shu; Kumasaka, Toshio; Iwase, Akihiko

2013-01-01

128

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

PubMed

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

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

2014-07-01

129

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

PubMed Central

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

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

2014-01-01

130

Diagnosing ALS  

MedlinePLUS

... About ALS Share Print Diagnosing ALS En español ALS is a very difficult disease to diagnose. To date, there is no one ... series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. A comprehensive ...

131

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

132

Broken Heart Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What is Broken Heart Syndrome Broken heart syndrome is a condition in ... disorder and how to diagnose and treat it. Broken Heart Syndrome Versus Heart Attack Symptoms of broken heart ...

133

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 ...

134

Polycystic Ovary Syndrome  

MedlinePLUS

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

135

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 ...

136

How Are Myelodysplastic Syndromes Diagnosed?  

MedlinePLUS

... and blood cell examination The complete blood count (CBC) is a test that measures the different cells ... the white blood cells, and the platelets. The CBC is often done with a differential count (or “ ...

137

Metabolic Syndrome  

MedlinePLUS

... to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome. A large ... syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or ... Metabolic Syndrome Clinical Trials Clinical trials are ...

138

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

Microsoft Academic Search

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

Rachel Hall; Neil Hopkinson; Terry Hamblin

2000-01-01

139

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

140

Reye syndrome  

MedlinePLUS

... may be used to diagnose Reye syndrome: Blood chemistry tests Head CT or head MRI scan Liver ... RM, Behrman RE,Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia ,Pa: Saunders ...

141

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 ...

142

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

PubMed

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

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

2011-04-01

143

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

144

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

ClinicalTrials.gov

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

2014-12-17

145

Metabolic Syndrome  

MedlinePLUS

Having three or more risk factors is a sign that the body is resistant to insulin, an important hormone produced by the pancreas. ... diagnosed with the metabolic syndrome if you have three or more risk factors (see table below). FAcT SHeeT the metabolic syndrome ...

146

Non-surgical therapy for bilateral glossopharyngeal neuralgia caused by Eagle's syndrome, diagnosed by three-dimensional computed tomography: a case report.  

PubMed

Eagle's syndrome is an uncommon sequela of elongation of the styloid process. Symptoms include recurrent throat pain and anterolateral neck pain, with referred pain to the ear. We report a 65-year-old man who presented with bilateral glossopharyngeal neuralgia. We performed three-dimensional computed tomography which revealed that the right styloid process was 35.1 mm and the left process was 29.6 mm, leading to diagnosis of an elongated styloid process, i.e. Eagle's syndrome. Because the patient refused surgical treatment, conservative therapy was selected. Oral gabapentin, stellate ganglion block, and 8 % lidocaine spray on the tonsillar branches of the glossopharyngeal nerve resulted in complete resolution of the paroxysms of pain in approximately 3 weeks. PMID:22760524

Kawasaki, Masanori; Hatashima, Sunao; Matsuda, Tomio

2012-12-01

147

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

SciTech Connect

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

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

1996-10-16

148

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

ClinicalTrials.gov

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

2014-12-29

149

How Is Asthma Diagnosed?  

MedlinePLUS

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

150

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

151

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.  

PubMed

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244 k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84 Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016-34,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the RUNX1 gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11. PMID:23894067

Carrascosa-Romero, María Carmen; Suela, Javier; Pardal-Fernández, José Manuel; Bermejo-Sánchez, Eva; Vidal-Company, Alberto; MacDonald, Alexandra; Tébar-Gil, Roque; Martínez-Fernández, María Luisa; Martínez-Frías, María Luisa

2013-09-01

152

Learning about Turner Syndrome  

MedlinePLUS

... hormone replacement therapy. Top of page How is Turner syndrome diagnosed? A diagnosis of Turner syndrome may be suspected when there are a number ... slow growth rate and other features are identified. Diagnosis sometimes takes place later ... syndrome may be suspected in pregnancy during an ultrasound ...

153

Diagnosing mucopolysaccharidosis IVA.  

PubMed

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

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

2013-03-01

154

Diagnosing Tic Disorders  

MedlinePLUS

... Other Websites Information For... Media Policy Makers Diagnosing Tic Disorders Language: English Español (Spanish) Share Compartir The ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder For a person to be diagnosed with ...

155

How Is COPD Diagnosed?  

MedlinePLUS

... page from the NHLBI on Twitter. How Is COPD Diagnosed? Your doctor will diagnose COPD based on ... Rate This Content: Next >> Featured Video What is COPD? 10/15/2014 The NHLBI "Grand Opportunity" Exome ...

156

How Is Sarcoidosis Diagnosed?  

MedlinePLUS

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

157

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

158

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

159

Guillain-Barre Syndrome  

MedlinePLUS

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

160

Diagnosability and sensor reduction  

Microsoft Academic Search

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

E. Scarl

1991-01-01

161

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

162

Eagle syndrome.  

PubMed

Eagle syndrome, also known as elongated styloid process, is a condition first described by Watt Eagle in 1937. It occurs when an elongated styloid process or calcified stylohyoid ligament causes recurrent throat pain or foreign body sensation, dysphagia, or facial pain. Additional symptoms may include neck or throat pain with radiation to the ipsilateral ear. It is usually hard to diagnose because the symptoms related to this condition can be confused with those attributed to a wide variety of facial neuralgias. In this article, a case of Eagle syndrome exhibiting unilateral symptoms with bilateral elongation of styloid process is reported. PMID:24406612

Ferreira, Pedro Costa; Mendanha, Mário; Frada, Tiago; Carvalho, Jorge; Silva, Alvaro; Amarante, José

2014-01-01

163

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

164

Turner Syndrome 2008  

Microsoft Academic Search

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

Carolyn A. Bondy

2009-01-01

165

Genotype-based databases for variants causing rare diseases.  

PubMed

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

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

2014-10-15

166

The accuracy of bedside neurological diagnoses.  

PubMed

The accuracy of bedside diagnoses was prospectively studied in 100 consecutive patients admitted to the neurology service at New England Medical Center, Boston. Each patient was evaluated independently by a junior resident, a senior resident, and a staff neurologist, who were required to make an anatomical and etiological diagnosis based solely on the history and physical examination. Fourteen patients were excluded because their diagnoses were known before admission. Of the remaining 86 patients, it was possible to confirm anatomical and etiological diagnoses in 40 by matching the clinical syndromes with highly specific laboratory findings. In the other 46 patients, the diagnoses could not be confirmed because the laboratory studies (including magnetic resonance imaging) were negative or nondiagnostic. In the 40 patients with laboratory confirmed final diagnoses, the clinical diagnoses of the junior residents, senior residents, and staff neurologists were correct in 26 (65%), 30 (75%), and 31 (77%), respectively. There was a trend for error rates to be higher among junior residents than staff (p = 0.06). The errors by the junior residents, [senior residents], (staff) were attributed to incomplete history and examination in 4 [1] (0), inadequate fund of knowledge in 4 [3] (3), and poor diagnostic reasoning in 6 [6] (6). These results indicate that technology is not a panacea for our diagnostic difficulties and that there is room for improvement in our clinical skills, especially diagnostic reasoning. PMID:2375637

Chimowitz, M I; Logigian, E L; Caplan, L R

1990-07-01

167

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

168

How Is Hypotension Diagnosed?  

MedlinePLUS

... a sign of coronary heart disease (also called coronary artery disease). Stress Test Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing , you exercise (or are given medicine if you' ...

169

How Is Anemia Diagnosed?  

MedlinePLUS

... to diagnose anemia is a complete blood count (CBC). The CBC measures many parts of your blood. The test ... can explain your test results to you. The CBC also checks the number of red blood cells, ...

170

Congenital and Infantile Nephrotic Syndrome in Thai Infants  

Microsoft Academic Search

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

Prayong Vachvanichsanong; Winyou Mitarnun; Kobkul Tungsinmunkong; Pornsak Dissaneewate

2005-01-01

171

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

ERIC Educational Resources Information Center

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

Smith, Sandra M.

1989-01-01

172

Cushing's syndrome in pregnancy.  

PubMed

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

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

2015-02-01

173

Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome & Congenital Myasthenic Syndromes  

MedlinePLUS

... Myasthenic Syndromes Updated December 2009 2 MG • ©2011 MDA Dear Friends: S everal years ago, I started to ... this process in many ways. Doctors at an MDA clinic near my home diagnosed my MG and ...

174

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

175

Cerebral Fat Embolism Diagnosed by Cognitive Disorder  

PubMed Central

Fat embolism syndrome is a rarely seen complication of skeletal trauma, and it is seen at a rate of 2–5% after fractures of the long bones of the lower extremities. Its classic triad-+consists of hypoxemia, petechial bleedings on the skin and neurological findings. These neurological findings are highly variable and non-specific, and they can present with lethargy, irritability, delirium, stupor, convulsion or coma. In this report, a male case is presented who was diagnosed with cerebral embolism due to acute cognitive disorder after a segmental tibial fracture. PMID:25610313

Kotan, Dilcan; Ayas, Zeynep Ozozen; Sayan, Saadet; Inanmaz, Mustafa Erkan; Acar, Bilgehan Atilgan

2014-01-01

176

Antiphospholipid syndrome  

PubMed Central

Antiphospholipid syndrome is diagnosed when arterial or venous thrombosis or recurrent miscarriages occur in a person in whom laboratory tests for antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant and/or anti-beta 2-glycoprotein I) are positive. Despite the strong association between antiphospho-lipid antibodies and thrombosis, their pathogenic role in the development of thrombosis has not been fully elucidated. Novel mechanisms involving both the complement pathway and micro-particles have been described. The knowledge of these new pathogenic approaches might identify novel therapeutic targets and therefore may improve the management of these patients. PMID:19090981

Espinosa, Gerard; Cervera, Ricard

2008-01-01

177

Living with Asperger Syndrome  

Microsoft Academic Search

\\u000a This chapter has two purposes. The first is to explore several issues of importance for families with members diagnosed with\\u000a Asperger Syndrome (AS). The practical advice contained within comes from the experience Sherry Moyer gained in parenting a\\u000a child with AS and in helping others through her position as executive director of the Asperger Syndrome Coalition of the United\\u000a States.

Sherry Moyer; Sheryl Breetz

178

Parsonage–Turner syndrome  

Microsoft Academic Search

Magnetic resonance imaging is a useful tool in the diagnosis of Parsonage–Turner syndrome. The acute–subacute findings of increased signal intensity primarily within the supraspinatus muscle on fat-saturated proton density and T2-weighted images are characteristic of the syndrome. Chronic findings include focal increased T1 signal within the involved musculature consistent with atrophy. The exclusion of other possible diagnoses such as a

Geoffrey Brett Marshall; Eugene McKenna; Houman Mahallati

2005-01-01

179

How many functional somatic syndromes?  

Microsoft Academic Search

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

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

2001-01-01

180

Chronic Fatigue Syndrome: A Working Case Definition  

Microsoft Academic Search

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

GARY P. HOLMES; JONATHAN E. KAPLAN; NELSON M. GANTZ; ANTHONY L KOMAROFF; LAWRENCE B. SCHONBERGER; STEPHEN E. STRAUS; JAMES F. JONES; RICHARD E. DUBOIS; CHARLOTTE CUNNINGHAM-RUNDLES; SAVITA PAHWA; GIOVANNA TOSATO; LEONARD S. ZEGANS; DAVID T. PURTILO; NATHANIEL BROWN; ROBERT T. SCHOOLEY; IRENA BRUS; Georgia Atlanta

1988-01-01

181

Klinefelter syndrome in clinical practice.  

PubMed

Klinefelter syndrome is the most common sex-chromosome disorder; it affects approximately one in every 660 men. This syndrome is characterized by the presence of one or more extra X chromosomes, and the karyotype 47,XXY is the most prevalent type. The 'prototypic' man with Klinefelter syndrome has traditionally been described as tall, with narrow shoulders, broad hips, sparse body hair, gynecomastia, small testicles, androgen deficiency, azoospermia and decreased verbal intelligence. A less distinct phenotype has, however, been described. Klinefelter syndrome is an underdiagnosed condition; only 25% of the expected number of patients are diagnosed, and of these only a minority are diagnosed before puberty. Patients with Klinefelter syndrome should be treated with lifelong testosterone supplementation that begins at puberty, to secure proper masculine development of sexual characteristics, muscle bulk and bone structure, and to prevent the long-term deleterious consequences of hypogonadism; however, the optimal testosterone regimen for patients with Klinefelter syndrome remains to be established. PMID:17415352

Bojesen, Anders; Gravholt, Claus H

2007-04-01

182

Hypothetico-deductive diagnoses  

NASA Astrophysics Data System (ADS)

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

Marquis, Pierre

1992-03-01

183

An easily diagnosable PLA  

E-print Network

than the common stuck-at faults [4). Existing testing algorithms, such as the D-algorithm [6]. , PODE1VI 7] and FAN [8', , cannot efficiently test or localize faults inside s. PLA. Vote that the testing and diagnosing problems are quite different..., s); begin for ii = 1, :3, 5, p ? 1 do begin /" diagnosis of product line"/ /s initiate shift register'/ end; 25 Shift in S and record product line output v=0; if f=0 and s=0 then begin for ii = 1 to p do begin /* Apply test vectors/ /* v...

Kao, Chung Min

1989-01-01

184

How Is Cystic Fibrosis Diagnosed?  

MedlinePLUS

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

185

How Are Uterine Fibroids Diagnosed?  

MedlinePLUS

... it? How is it diagnosed? What are the treatments for it? Other FAQs NICHD Research Information Clinical Trials Resources and Publications En Español How are uterine fibroids diagnosed? Skip sharing on social media links Share ...

186

Diagnosing Dementia—Positive Signs  

MedlinePLUS

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

187

Ischemic Bilateral Opercular Syndrome  

PubMed Central

Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

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

2013-01-01

188

Diagnosable structured logic array  

NASA Technical Reports Server (NTRS)

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

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

2009-01-01

189

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.  

PubMed

Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of developmental delay and congenital anomalies, including characteristic facial, cardiac, and ectodermal abnormalities. It is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. In, however, approximately 10%-30% of individuals with a clinical diagnosis of CFCS, no mutation of the causative gene is found. Therefore, clinical studies in patients with the CFCS spectrum are valuable. To investigate the phenotypic spectrum and molecular diversity of germline mutations affecting genes encoding serine/threonine kinases, a group of 15 children and young adults with a diagnosis of CFCS was screened. We documented three novel mutations in the BRAF gene and correlated clinical findings with causative mutations in the BRAF or MEK1/MEK2 genes. PMID:25463315

Ciara, El?bieta; Pelc, Magdalena; Jurkiewicz, Dorota; Kugaudo, Monika; Gieruszczak-Bia?ek, Dorota; Skórka, Agata; Posmyk, Renata; Jakubiuk-Tomaszuk, Anna; Cie?likowska, Agata; Chrzanowska, Krystyna H; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Ma?gorzata

2014-11-11

190

Brugada Syndrome  

PubMed Central

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

ANTZELEVITCH, CHARLES

2007-01-01

191

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

192

Dry eye and Meige's syndrome  

PubMed Central

AIMS—To determine the relation between dry eye and Meige's syndrome.?METHODS—325 patients with dry eye were divided into those responsive to topical and other forms of treatment (n=276) and those who were not (n=49). A neuropsychiatric examination was performed to check for Meige's syndrome in the latter group.?RESULTS—Twenty eight (57%) of the treatment unresponsive patients were diagnosed with Meige's syndrome.?CONCLUSIONS—There is a subgroup of patients with dry eye who do not respond to simple therapy. More than half of these patients have Meige's syndrome and need psychiatric, as well as ophthalmic, care.?? PMID:9274405

Tsubota, K.; Fujihara, T.; Kaido, M.; Mori, A.; Mimura, M.; Kato, M.

1997-01-01

193

[An apparent life threatening secondary to long Qt syndrome].  

PubMed

We report the case of an infant with an episode of loss of consciousness, in whom ventricular fibrillation was diagnosed. He was successfully defibrillated and long QT syndrome was diagnosed as his baseline disease. This case constitutes a documented example of this entity as a cause of the sudden infant death syndrome. PMID:23570766

Moltedo, José M; Benjamín, Mónica N; Olmedo, Julián; Abello, Mauricio S; Giménez, Pedro

2013-01-01

194

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

195

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 ...

196

Tourette Syndrome  

MedlinePLUS

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

197

Wallenberg's Syndrome  

MedlinePLUS

NINDS Wallenberg's Syndrome Information Page Synonym(s): Lateral Medullary Syndrome Table of Contents (click to jump to sections) What is ... is being done? Clinical Trials Organizations What is Wallenberg's Syndrome? Wallenberg’s syndrome is a neurological condition caused ...

198

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome  

Microsoft Academic Search

We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate\\/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was

J. Herrmann; P. D. Pallister; E. F. Gilbert; C. Viseskul; E. Bersu; J. C. Pettersen; J. M. Opitz

1976-01-01

199

Asherman's syndrome.  

PubMed

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

March, Charles M

2011-03-01

200

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

PubMed

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

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

2013-01-01

201

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 ...

202

How Is Polycythemia Vera Diagnosed?  

MedlinePLUS

... PV. These tests include a complete blood count (CBC) and other tests, if necessary. Complete Blood Count ... first test used to diagnose PV is a CBC. The CBC measures many parts of your blood. ...

203

How Is an Aneurysm Diagnosed?  

MedlinePLUS

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

204

Miliary tuberculosis and adult respiratory distress syndrome  

Microsoft Academic Search

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

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

1987-01-01

205

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

206

[Secondary myelodysplastic syndrome].  

PubMed

Secondary or therapy related myelodysplastic syndrome may develop following treatment with alkylating agents and radiotherapy. The condition may also follow high dose therapy for malignant lymphomas. We describe two patients who developed secondary myelodysplasia. The first is a 76-year old female with a low grade lymphoma who developed pancytopenia with monosomy 7. Secondary myelodysplasia was diagnosed 24 months after treatment with chlorambucil (total dose of 900 mg) and 12 months after treatment with trophosphamide (total dose of 24 g). The second patient was a 48-year old male who underwent autologous bone marrow transplantation for a relapsed low grade lymphoma. Following autografting he had persistent anemia and trombocytopenia. Secondary myelodysplastic syndrome with complex karyotype was diagnosed 54 months after high dose therapy. He died nine months later of bone marrow failure. PMID:9441464

Shammas, F V; Heikkilä, R

1997-11-30

207

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

208

Polycystic Ovary Syndrome  

Microsoft Academic Search

Polycystic ovary syndrome (PCOS) is a common but poorly understood endocrinopathy diagnosed by the combination of oligomenorrhea,\\u000a hyperandrogenism, and polycystic ovaries. Many of the women with PCOS are also uniquely and variably insulin-resistant. This\\u000a can manifest as hyperinsulinemia, glucose intolerance, and frank diabetes. Affected women are plagued by infertility, menstrual\\u000a disorders, dysfunctional uterine bleeding, and peripheral skin disorders including acne

Romana Dmitrovic; Richard S. Legro

209

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

210

Ogilvie's syndrome following caesarean section.  

PubMed

Acute colonic pseudo-obstruction syndrome, also known as Ogilvie's syndrome, is a rare condition associated with significant morbidity and mortality. We report a case that developed very rapidly after emergency caesarean section. A 20-year-old woman underwent an emergency caesarean section for failure to progress in the first stage of labour and a healthy male infant was delivered without incident. However, soon afterwards the patient developed significant abdominal distension and pain. Ogilvie's syndrome was diagnosed following an abdominal x-ray which revealed a gross large bowel obstruction without mechanical cause. To prevent caecal rupture, the patient underwent successful emergency colonic decompression. PMID:23784768

Latunde-Dada, Adeyinka Oluseun; Alleemudder, Djavid I; Webster, Daniel P

2013-01-01

211

Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl.  

PubMed

Michelin tire baby syndrome is a rare syndrome, diagnosed clinically by multiple circumferential skin folds. Multiple noncutaneous anomalies have been described with this syndrome. We report a case of Michelin tire baby syndrome with congenital panhypopituitarism. To date, there is no report of association between these two disorders. PMID:25065283

Haghshenas, Zahra; Tajziehchi, Leila; Ghavami, Fakhredin

2014-08-01

212

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

213

Gaucher's disease diagnosed by splenectomy  

PubMed Central

Context: Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease. Cases: Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. Conclusions: For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation. PMID:22666685

Adas, Mine; Adas, Gokhan; Karatepe, Oguzhan; Altiok, Merih; Ozcan, Deniz

2009-01-01

214

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 ...

215

Brown Syndrome  

MedlinePLUS

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

216

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 ...

217

Angelman Syndrome  

MedlinePLUS

... being done? Clinical Trials Organizations What is Angelman Syndrome? Angelman syndrome is a genetic disorder that causes developmental ... and ultimately cure them. NIH Patient Recruitment for Angelman Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

218

Diagnosis of cracked tooth syndrome  

PubMed Central

The incidences of cracks in teeth seem to have increased during the past decade. Dental practitioners need to be aware of cracked tooth syndrome (CTS) in order to be successful at diagnosing CTS. Early diagnosis has been linked with successful restorative management and predictably good prognosis. The purpose of this article is to highlight factors that contribute to detecting cracked teeth. PMID:23066261

Mathew, Sebeena; Thangavel, Boopathi; Mathew, Chalakuzhiyil Abraham; Kailasam, SivaKumar; Kumaravadivel, Karthick; Das, Arjun

2012-01-01

219

How Is Atrial Fibrillation Diagnosed?  

MedlinePLUS

... test for diagnosing AF. An EKG shows how fast your heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through your heart. A standard EKG only records the heartbeat for a few seconds. It won't detect AF that doesn't ...

220

Psychiatric diagnoses, trauma, and suicidiality  

Microsoft Academic Search

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

Silje K Floen; Ask Elklit

2007-01-01

221

[Identification and clinical use of the Metabolic Syndrome].  

PubMed

The Metabolic Syndrome is characterised by the following components: atherogenic dyslipidemia, elevated blood pressure, elevated glucose and abdominal obesity. 22% of 415 patients of an outpatient clinic in internal medicine fulfilled the criteria of a Metabolic Syndrome. The most common components were abdominal obesity, elevated blood pressure and elevated triglyceride. Only one in five treating physicians diagnosed a Metabolic Syndrome. Our data show that the concept of the Metabolic Syndrome has limited utility in clinical practice. PMID:22618695

Baumgartner, A; Gschwend, S; Stöckli, R; Battegay, E; Zimmerli, L

2012-05-23

222

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

223

Perinatal Outcome in the Liveborn Infant with Prenatally Diagnosed Omphalocele  

PubMed Central

Objective To compare perinatal outcomes between liveborn non-isolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Study Design Fetuses (n=86) with omphalocele were identified between 1995–2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks gestation, available fetal and/or neonatal karyotype, and a liveborn infant (n=46). Perinatal outcomes were compared in non-isolated (n=23) and isolated omphaloceles (n=23). Results For all omphaloceles, the majority delivered after 34 weeks by cesarean. Mean birth weight (2782 vs. 2704g), median length of stay (27 vs. 25 days), and mortality (2 in each group) was not different between the non-isolated and isolated groups, P>0.05. In the non-isolated group, 7 major anomalies were not confirmed postnatally. Of the prenatally diagnosed isolated omphaloceles, 8(35%) were diagnosed with a syndrome or other anomalies after birth. Conclusion The outcomes were similar in non-isolated and isolated prenatally diagnosed omphaloceles, but ultrasound did not always accurately determine the presence or absence of associated anomalies. PMID:21544770

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

2013-01-01

224

[Corynebacterium pseudodiphtheriticum pneumonia in a patient diagnosed with HIV infection].  

PubMed

Corynebacterium pseudodiphteriticum is a diphteromorphic bacterium, previously described as pathogenic in very few cases. We present the case of a patient diagnosed of infection by the human immunodeficiency virus (HIV), who developed pneumonia probably caused by Corynebacterium pseudodiphtheriticum and who had a good response to the initial empirical therapy with cephotaxime. We reviewed the literature on patients with diagnosis of HIV infection, acquired immunodeficiency syndrome (AIDS) and AIDS-related complex and we found just one case of this corynebacterium acting as pathogenic and causing a pulmonary abscess. PMID:8136430

Roig, P; López, M M; Arriero, J M; Cuadrado, J M; Martín, C

1993-10-01

225

Severe Chlamydophila psittaci pneumonia rapidly diagnosed by detection of antigen in sputum with an immunochromatography assay  

Microsoft Academic Search

We report a case of severe Chlamydophila (Chlamydia) psittaci pneumonia rapidly diagnosed by detection of antigen in sputum with an immunochromatography assay. The patient was admitted to our hospital because of shock, disturbance of consciousness, accidental hypothermia, and multiple organ dysfunction syndrome, and he recovered after administration of intravenous erythromycin and high-dose methylpredonisolone therapy. Psittacosis was confirmed by detection of

Masahiro Toyokawa; Toshio Kishimoto; Yan Cai; Motohiko Ogawa; Sadashi Shiga; Isao Nishi; Hideo Hosotsubo; Masayuki Horikawa; Seishi Asari

2004-01-01

226

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

227

MidTerm Neurodevelopmental Outcome in Isolated Mild Ventriculomegaly Diagnosed in Fetal Life  

Microsoft Academic Search

Objective: To analyze mid-term neurodevelopment outcome in children with isolated mild ventriculomegaly (VM) ?12 mm diagnosed in fetal life, using the Battelle Developmental Inventory Screening Test (BDIST). Methods: 86 cases of mild VM were identified. 68 were excluded due to: other cerebral anomalies (n = 40), extra-cerebral anomalies (n = 3), chromosomal defects (n = 4), dysmorphic syndromes (n =

Paula Gómez-Arriaga; Ignacio Herraiz; Jose Manuel Puente; Berta Zamora-Crespo; Noemi Núñez-Enamorado; Alberto Galindo

2012-01-01

228

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

229

Genetics Home Reference: 1p36 deletion syndrome  

MedlinePLUS

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

230

Chondroectodermal Dysplasia: A Rare Syndrome  

PubMed Central

Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

Tahririan, Dana; Eshghi, Alireza; Givehchian, Pirooz; Tahririan, Mohammad Ali

2014-01-01

231

Diagnosing foetal atrioventricular heart blocks.  

PubMed

Foetal echocardiographic ultrasound techniques still remain the dominating modality for diagnosing foetal atrioventricular block (AVB). Foetal electrocardiography might become a valuable tool to measure time intervals, but magnetocardiography is unlikely to get a place in clinical practice. Assuming that AVB is a gradually progressing and preventable disease, starting during a critical period in mid-gestation with a less abnormal atrioventricular conduction before progressing to a complete irreversible AVB (CAVB), echocardiographic methods to detect first-degree AVB have been developed. The time intervals obtained with these techniques are all based on the identification of mechanical or hemodynamic events as markers of atrial (A) and ventricular (V) depolarizations and will accordingly include both electrical and mechanical components. Prospective observational studies have demonstrated a transient prolongation of AV time intervals in anti-Ro/SSA antibody-exposed foetuses, but it has not succeeded to identify a degree of AV time prolongation predicting irreversible cardiac damage and progression to CAVB. Causes of sustained bradycardia include CAVB, 2:1 AVB, sinus bradycardia and blocked atrial bigeminy (BAB). Using foetal echocardiographic techniques and a systematic approach, a correct diagnosis can be made in almost every case. Sinus bradycardia and CAVB are usually easy to diagnose, but BAB has a tendency to be sustained and shows a high degree of resemblance with 2:1 AVB when diagnosed during mid-gestational. As BAB resolves without treatment and 2:1 AVB may respond to treatment with fluorinated steroids, a correct diagnosis becomes an issue of major importance to avoid unnecessary treatment of harmless and spontaneously reversing conditions. PMID:20696017

Sonesson, S-E

2010-09-01

232

Diagnosing dementia: No easy job  

Microsoft Academic Search

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

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

2011-01-01

233

Olanzapine-associated neuroleptic malignant syndrome: Is there an overlap with the serotonin syndrome?  

PubMed Central

Background The neuroleptic malignant syndrome is a rare but serious condition mainly associated with antipsychotic medication. There are controversies as to whether "classical" forms of neuroleptic malignant syndrome can occur in patients given atypical antipsychotics. The serotonin syndrome is caused by drug-induced excess of intrasynaptic 5-hydroxytryptamine. The possible relationship between neuroleptic malignant syndrome and serotonin syndrome is at present in the focus of scientific interest. Methods This retrospective phenomenological study aims to examine the seventeen reported olanzapine – induced neuroleptic malignant syndrome cases under the light of possible overlap between neuroleptic malignant syndrome and serotonin syndrome clinical features. Results The serotonin syndrome clinical features most often reported in cases initially diagnosed as neuroleptic malignant syndrome are: fever (82%), mental status changes (82%) and diaphoresis (47%). Three out of the ten classical serotonin syndrome clinical features were concurrently observed in eleven (65%) patients and four clinical features were observed in seven (41%) patients. Conclusion The results of this study show that the clinical symptoms of olanzapine-induced neuroleptic malignant syndrome and serotonin syndrome are overlapping suggesting similarities in underlying pathophysiological mechanisms. PMID:14613516

Kontaxakis, Vassilis P; Havaki-kontaxaki, Beata J; Christodoulou, Nikolaos G; Paplos, Konstantinos G; Christodoulou, George N

2003-01-01

234

How Is Alpha-1 Antitrypsin Deficiency Diagnosed?  

MedlinePLUS

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

235

How Do Health Care Providers Diagnose Vulvodynia?  

MedlinePLUS

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

236

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. ...

237

Anatomical Brain Images Alone Can Accurately Diagnose Chronic Neuropsychiatric Illnesses  

PubMed Central

Objective Diagnoses using imaging-based measures alone offer the hope of improving the accuracy of clinical diagnosis, thereby reducing the costs associated with incorrect treatments. Previous attempts to use brain imaging for diagnosis, however, have had only limited success in diagnosing patients who are independent of the samples used to derive the diagnostic algorithms. We aimed to develop a classification algorithm that can accurately diagnose chronic, well-characterized neuropsychiatric illness in single individuals, given the availability of sufficiently precise delineations of brain regions across several neural systems in anatomical MR images of the brain. Methods We have developed an automated method to diagnose individuals as having one of various neuropsychiatric illnesses using only anatomical MRI scans. The method employs a semi-supervised learning algorithm that discovers natural groupings of brains based on the spatial patterns of variation in the morphology of the cerebral cortex and other brain regions. We used split-half and leave-one-out cross-validation analyses in large MRI datasets to assess the reproducibility and diagnostic accuracy of those groupings. Results In MRI datasets from persons with Attention-Deficit/Hyperactivity Disorder, Schizophrenia, Tourette Syndrome, Bipolar Disorder, or persons at high or low familial risk for Major Depressive Disorder, our method discriminated with high specificity and nearly perfect sensitivity the brains of persons who had one specific neuropsychiatric disorder from the brains of healthy participants and the brains of persons who had a different neuropsychiatric disorder. Conclusions Although the classification algorithm presupposes the availability of precisely delineated brain regions, our findings suggest that patterns of morphological variation across brain surfaces, extracted from MRI scans alone, can successfully diagnose the presence of chronic neuropsychiatric disorders. Extensions of these methods are likely to provide biomarkers that will aid in identifying biological subtypes of those disorders, predicting disease course, and individualizing treatments for a wide range of neuropsychiatric illnesses. PMID:23236384

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

2012-01-01

238

Prescribing patterns in premenstrual syndrome  

PubMed Central

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

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

2002-01-01

239

Congestive myeloradiculopathy in a patient with Cowden syndrome.  

PubMed

We present a patient with newly diagnosed Cowden syndrome and congestive myeloradiculopathy secondary to spinal dural arteriovenous fistula (SDAVF). This patient illustrates the difficulties that can be encountered in diagnosing SDAVF and emphasises the need to pursue the diagnosis in the appropriate clinical setting, as treatment can lead to significant neurological improvement. To our knowledge this is also the first reported case of an association between Cowden syndrome and SDAVF. PMID:25304432

Wu, Teddy Y; Willoughby, Ernest; Hutchinson, David O; Brew, Stefan; McGuinness, Ben; Lopes, Rebecca; Love, Donald R; Roxburgh, Richard H

2015-02-01

240

Diagnosing Diabetes and Learning about Prediabetes  

MedlinePLUS

... positive test, your doctor may not require a second test to diagnose diabetes. A1C The A1C test measures your average blood glucose for the past 2 to 3 months. The advantages of being diagnosed this way are that you don't have to fast or drink anything. Diabetes is diagnosed at an ...

241

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. PMID:25045033

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

2014-09-01

242

Learning about Down Syndrome  

MedlinePLUS

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

243

Aicardi Syndrome  

MedlinePLUS

... males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of ...

244

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. ...

245

Marfan Syndrome  

MedlinePLUS

... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

246

Down Syndrome  

MedlinePLUS

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

247

Turner Syndrome  

MedlinePLUS

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

248

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 ...

249

[Styloid syndrome; Sluder's syndrome; Charlin's syndrome].  

PubMed

The styloid syndrome is caused by an irritation of the glossopharyngeal nerve from an excessive development of the styloid apophysis. Treatment consists of the resection of the same. The Sluder syndrome represents a nevralgy with origin in the sphenopalatine ganglion and a dysfunction of the parasympathetic system. The Charlin syndrome, much less frequent, manifests itself by pains in the territory of the nasociliar nerve and the ciliar ganglion. PMID:293019

Strupler, W

1979-02-01

250

Tics and tourette syndrome.  

PubMed

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

Ganos, Christos; Martino, Davide

2015-02-01

251

Myofascial pain syndrome treatments.  

PubMed

Myofascial pain syndrome (MPS) is a regional pain disorder caused by taut bands of muscle fibers in skeletal muscles called myofascial trigger points. MPS is a common disorder, often diagnosed and treated by physiatrists. Treatment strategies for MPS include exercises, patient education, and trigger point injection. Pharmacologic interventions are also common, and a variety of analgesics, antiinflammatories, antidepressants, and other medications are used in clinical practice. This review explores the various treatment options for MPS, including those therapies that target myofascial trigger points and common secondary symptoms. PMID:24787338

Borg-Stein, Joanne; Iaccarino, Mary Alexis

2014-05-01

252

Morning glory syndrome.  

PubMed

A 20 years young boy came from Sherpur was admitted in the Department of Ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 10th December 2011 with the complaints of dimness of vision of right eye since childhood. His best corrected visual acuity right eye was 6/60 and left eye was 6/6. He has no strabismus or nystagmus. Fundus examination showed right eye - large disc with funnel shaped excavation surrounded by chorioretinal disturbance, white tuft of glial tissue on central part of disc, blood vessels emerge from rim of excavation in radial pattern. By clinical examination the patient was diagnosed as morning glory syndrome. PMID:23134929

Hossain, M M; Akhanda, A H; Islam, M F; Akonjee, A R; Khan, N; Ali, M

2012-10-01

253

Complex regional pain syndrome  

PubMed Central

Complex regional pain syndrome (CRPS) previously known as reflex sympathetic dystrophy is a chronic neurological disorder involving the limbs characterized by disabling pain, swelling, vasomotor instability, sudomotor abnormality, and impairment of motor function. CRPS is not uncommon after hand surgery and may complicate post-operative care. There is no specific diagnostic test for CRPS and the diagnosis is based on history, clinical examination, and supportive laboratory findings. Recent modifications to diagnostic criteria have enabled clinicians to diagnose this disease more consistently. This review gives a synopsis of CRPS and discusses the diagnosis, pathophysiology, and treatment options based on the limited evidence in the literature. PMID:22022040

Sebastin, Sandeep J

2011-01-01

254

Nephrotic syndrome.  

PubMed

Nephrotic syndrome refers to excessive proteinuria, with associated hypoalbuminemia, edema, and hyperlipidemia. A diverse spectrum of disorders has been associated with nephrotic syndrome and related neurologic complications, although the relative infrequency of these cases limits conclusive associations. Neurologic manifestations of nephrotic syndrome may result from hypoproteinemia, hypercoagulability, hyperlipidemia, hypertension, amyloid deposition, hormonal changes, or electrolyte disorders. Neurologic diagnosis hinges on prompt recognition of this syndrome and rational therapeutic strategies are aimed at the underlying systemic disorder. PMID:24365309

Liebeskind, David S

2014-01-01

255

[Familial Wolfram syndrome].  

PubMed

Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. PMID:25282462

Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

2014-11-01

256

Chest pain syndromes in pregnancy.  

PubMed

Chest pain syndromes in pregnancy include numerous catastrophic cardiovascular events. Acute myocardial infarction, aortic dissection, pulmonary embolism, and amniotic fluid embolism are the most important causes of nonobstetric mortality and morbidity in pregnancy. Each of these could result in poor maternal and fetal outcomes if not diagnosed and treated in a timely fashion. However, their diagnosis and management is limited by fetal risks of diagnostic procedures, dangers of pharmacotherapy and interventions that have neither been widely studied nor validated. This article reviews the current literature on epidemiology, risk factors, pathogenesis, diagnosis, and management of 4 potentially lethal chest pain syndromes in pregnancy. PMID:22813362

Sahni, Gagan

2012-08-01

257

Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome  

PubMed Central

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

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

2014-01-01

258

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.  

PubMed

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

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

2015-03-01

259

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

PubMed Central

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

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

2014-01-01

260

HELLP syndrome  

MedlinePLUS

HELLP syndrome is a group of symptoms that occur in pregnant women who have: H -- hemolysis (the breakdown ... The cause of HELLP syndrome has not been found. HELLP syndrome occurs in about 1 to 2 out of 1,000 pregnancies, and in ...

261

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. ...

262

Usher Syndrome  

MedlinePLUS

Home Health Info Hearing, Ear Infections, and Deafness Usher Syndrome Usher Syndrome On this page What is Usher syndrome? Who is affected by Usher ... legally blind. Type 1 Type 2 Type 3 Hearing Profound deafness in both ears from birth Moderate to severe hearing loss from ...

263

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 ...

264

Rowell syndrome  

PubMed Central

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

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

2014-01-01

265

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

266

Rowell syndrome.  

PubMed

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

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

2014-11-01

267

Aqueous flare and cells in Fuchs syndrome  

Microsoft Academic Search

PurposeTo quantitatively evaluate aqueous flare and cells in patients with Fuchs syndrome.MethodsThe medical records of 40 patients (47 eyes) diagnosed with Fuchs syndrome between February 2006 and January 2007 at the Uveitis Study Center of Sun Yat-sen University were retrospectively reviewed. Aqueous flare and cells were clinically evaluated and quantified with laser flare-cell meter. Statistical analysis was performed to investigate

W Fang; H Zhou; P Yang; X Huang; L Wang

2009-01-01

268

[Ovarian cancer in ovarian remnant syndrome?].  

PubMed

We report on a malignant pelvic tumour in a 69-year old woman, whose uterus and adnexa had been removed 22 years ago because of endometriosis. Clinical and pathological findings pointed to an ovarian cancer in an ovarian remnant syndrome. In a case of a carcinoma, it is difficult to furnish proof of an ovarian remnant syndrome. Differential diagnoses, especially the ureteral adenocarcinoma, are discussed. PMID:1499956

Glaser, D; Bürrig, K F; Mast, H

1992-07-01

269

The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome  

Microsoft Academic Search

Hypervariable segments of mitochondrial DNA (mtDNA) (HV1 and HV2) were analyzed in Klinefelter's syndrome and compared to normal population data. One pair of samples consisting of a Japanese mother and affected son with Klinefelter's syndrome (involved in a criminal case), and seven unrelated DNA samples from Caucasian Klinefelter males (two involved in criminal cases and five diagnosed) were collected in

Haruna Oikawa; Zaw Tun; David R Young; Hiroyasu Ozawa; Kentaro Yamazaki; Einosuke Tanaka; Katsuya Honda

2002-01-01

270

Velocardiofacial Syndrome and Early Intervention Providers: Recommendations for Intervention  

ERIC Educational Resources Information Center

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

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

2012-01-01

271

Plummer-Vinson syndrome. A case report and literature review.  

PubMed

The Plummer-Vinson syndrome is characterized by dysphagia, iron-deficiency anemia, and esophageal webs. The webs are best diagnosed by cineradiography. Iron repletion often improves the dysphagia, although some patients require esophageal dilatation or bougienage. The syndrome is associated with an increased incidence of postcricoid carcinoma, and surveillance endoscopy is recommended. PMID:7575056

Hoffman, R M; Jaffe, P E

1995-10-01

272

Basal ganglia calcification and psychosis in Down's syndrome.  

PubMed Central

A case of basal ganglia calcification (diagnosed in vivo) and schizophreniform psychosis occurring in a young adult with Down's syndrome is reported. A stress-vulnerability model is suggested. Because of the relatively high prevalence of basal ganglia calcification to Down's syndrome, this population appears well suited for systematic study of the neuropsychiatric aspects associated with this neurological condition. Images Fig. 1 PMID:6231537

Thase, M. E.

1984-01-01

273

Chronic pneumonia and polyarthritis syndrome in a feedlot calf  

PubMed Central

A feedlot heifer was diagnosed with chronic pneumonia and polyarthritis syndrome (CPPS), which was confirmed on postmortem examination. The syndrome is caused by Mycoplasma bovis; however, available data support the theory that other pathogens play a role in predisposing to this disease. Continued research on CPPS focuses on pathogenesis, treatment, and prevention. PMID:17078254

Krysak, Dorothy E.

2006-01-01

274

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

275

Behavioral and Emotional Disturbance in Individuals with Williams Syndrome.  

ERIC Educational Resources Information Center

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

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

1997-01-01

276

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

277

Depression and Anorexia Nervosa of Persons with Down Syndrome.  

ERIC Educational Resources Information Center

Manifestations of depression in three adults wth Down syndrome, one of whom also exhibited anorexia nervosa, are described. Overall findings indicate that major depression in Down syndrome may be more frequent than previously assumed and that it can be diagnosed with standard diagnostic criteria, modified according to the patient's developmental…

Szymanski, Ludwik S.; Biederman, Joseph

1984-01-01

278

Drowning as a Cause of Death in Angelman Syndrome.  

ERIC Educational Resources Information Center

This study reports on a 9-year-old boy previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. The case illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. The need for supervision is stressed. (Contains 5…

Ishmael, Holly A.; Begleiter, Michael L.; Butler, Merlin G.

2002-01-01

279

Peripheral nerve involvement in Churg-Strauss syndrome  

Microsoft Academic Search

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

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

1992-01-01

280

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

281

Racial and Ethnic Differences in the Presentation of Metabolic Syndrome  

Microsoft Academic Search

This paper explores the effectiveness of the Third Report of the Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (ATP III) recommendations for diagnosing metabolic syndrome in people from specific racial and ethnic groups. More than 50 million adult Americans have metabolic syndrome. Some racial and ethnic minority groups have much higher percentages of the

Kathleen H. Prussian; Debra J. Barksdale-Brown; Janna Dieckmann

2007-01-01

282

The Syndrome of Absence Status Epilepsy: Review of the Literature  

PubMed Central

The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed. PMID:24660061

Pappatà, Sabina; De Simone, Roberto

2014-01-01

283

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

284

Excision of a large abdominal wall lipoma improved bowel passage in a Proteus syndrome patient  

Microsoft Academic Search

Proteus syndrome is an extremely rare congenital disorder that produces multifocal overgrowth of tissue. This report presents a surgical case of a large lipoma in the abdominal wall of a patient with Proteus syndrome. She was diagnosed with Proteus syndrome based on certain diagnostic criteria. The neoplasm increased in size gradually, producing hemihypertrophy of her left lower extremity and trunk,

Yoshifumi Nakayama; Shinichi Kusuda; Naoki Nagata; Koji Yamaguchi; Yamaguchi K. Excision

2009-01-01

285

Refeeding syndrome.  

PubMed

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly. PMID:19712606

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

2009-01-01

286

[Bartter's syndrome].  

PubMed

Bartter syndrome is an uncommon tubular disorder inherited as an autosomal recessive entity. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Recent studies have demonstrated genetic heterogeneity in Bartter syndrome. Mutations of two genes encoding the Na/K/2Cl cotransporter and potassium channel ROMK are responsible for clinical features of neonatal Bartter syndrome. Mutations of gen encoding the chloride channel ClC-Kb is identified as being causative for the classic Bartter syndrome. And dysfunction of Na/Cl cotransporter in the distal convoluted renal tubule is described as Gitelman syndrome. PMID:15518434

Daniluk, Urszula; Kaczmarski, Maciej; Wasilewska, Jolanta; Matuszewska, Elzbieta; Semeniuk, Janusz; Sidor, Katarzyna; Krasnow, Aleksander

2004-05-01

287

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

288

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

PubMed

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

Seidel, Markus G

2014-10-01

289

Acute Idiopathic Compartment Syndrome of the Forearm in an Adolescent  

PubMed Central

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

Smith, Kelley; Wolford, Robert W.

2015-01-01

290

Löfgren’s syndrome revisited: a study of 186 patients  

Microsoft Academic Search

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

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

1999-01-01

291

Training clinicians treating HIV to diagnose cytomegalovirus retinitis  

PubMed Central

Abstract Problem Acquired immunodeficiency syndrome (AIDS)-related cytomegalovirus (CMV) retinitis continues to be a neglected source of blindness in resource-poor settings. The main issue is lack of capacity to diagnose CMV retinitis in the clinical setting where patients receive care and all other opportunistic infections are diagnosed. Approach We developed and implemented a four-day workshop to train clinicians working in human immunodeficiency virus (HIV) clinics how to perform binocular indirect ophthalmoscopy and diagnose CMV retinitis. Workshops comprised both classroom didactic instruction and direct clinical eye examinations in patients with advanced AIDS. Between 2007 and 2013, 14 workshops were conducted in China, Myanmar and the Russian Federation. Local setting Workshops were held with local clinicians at HIV clinics supported by nongovernmental organizations, public-sector municipal hospitals and provincial infectious disease referral hospitals. Each setting had limited or no access to locally- trained ophthalmologists, and an HIV-infected population with advanced disease. Relevant changes Clinicians learnt how to do binocular indirect ophthalmoscopy and to diagnose CMV retinitis. One year after the workshop, 32/38 trainees in Myanmar did systematic eye examination for early diagnosis of CMV retinitis as standard care for at-risk patients. In China and the Russian Federation, the success rates were lower, with 10/15 and 3/5 trainees, respectively, providing follow-up data. Lessons learnt Skills necessary for screening and diagnosis of CMV retinitis can be taught in a four-day task-oriented training workshop. Successful implementation depends on institutional support, ongoing training and technical support. The next challenge is to scale up this approach in other countries. PMID:25552774

Tun, NiNi; Maningding, Ernest; Heiden, Matthew; Rose-Nussbaumer, Jennifer; Chan, Khin Nyein; Khizniak, Tamara; Yakubenko, Alexandra; Lewallen, Susan; Keenan, Jeremy D; Saranchuk, Peter

2014-01-01

292

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

293

Ochronosis diagnosed after knee arthroscopy  

PubMed Central

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

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

2014-01-01

294

Prenatal diagnosis of the Meckel syndrome.  

PubMed

Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, polydactyly, and bilateral polycystic kidneys. This case report emphasies the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosed in utero. PMID:83212

Nevin, N C; Thompson, W; Davison, G; Horner, W T

1979-01-01

295

Corticoide sistêmico como tratamento de primeira linha da hipertensão pulmonar secundária a síndrome POEMS* Systemic corticosteroids as first-line treatment in pulmonary hypertension associated with POEMS syndrome  

Microsoft Academic Search

The POEMS syndrome is a rare plasma cell disease. Pulmonary hypertension is an infrequent respiratory complication of this syndrome and might be associated with increased levels of various cytokines, chemokines and growth factors as part of the inflammatory phenomena that involve the physiopathology of POEMS syndrome. We present the case of a 54-year-old woman diagnosed with POEMS syndrome and pulmonary

Samia Rached; Rodrigo Abensur Athanazio; Sérvulo Azevedo; Dias Júnior; Carlos Jardim; Rogério Souza

296

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.  

PubMed

We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel-Giedion syndrome, and Rudiger syndrome. PMID:24357154

Alessandri, Jean-Luc; Cuillier, Fabrice; Malan, Valerie; Brayer, Claire; Grondard, Maeva; Jacquemot-Dekkak, Laure; Kieffer-Traversier, Marie; Pierre, Florence; Laurain, Céline; Samperiz, Sylvain; Tiran-Rajaofera, Isabelle; Ramful, Duksha

2014-03-01

297

Novel approaches in diagnosing tuberculosis  

NASA Astrophysics Data System (ADS)

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

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

2011-06-01

298

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

299

T-cell lymphoma with POEMS syndrome  

PubMed Central

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

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

2015-01-01

300

Gorlin Syndrome  

PubMed Central

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

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

2013-01-01

301

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

302

Egg drop syndrome '76 in Bolivia  

Microsoft Academic Search

Four outbreaks of Egg Drop Syndrome '76 (EDS '76) were diagnosed between April 1993 and July 1993 in the Santa Cruz Department of Bolivia, around the department capital Santa Cruz. Three outbreaks involved commercial laying birds and the fourth a broiler breeder unit. Clinical signs were typical of EDS '76 with decreases in egg production of up to 55% being

S. C. Bishop; P. Cardozo

1996-01-01

303

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

304

Aging in Rare Intellectual Disability Syndromes  

ERIC Educational Resources Information Center

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

Dykens, Elisabeth M.

2013-01-01

305

Down Syndrome What causes Down syndrome?  

E-print Network

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

Palmeri, Thomas

306

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

307

Adult onset Still's disease diagnosed concomitantly with occult papillary thyroid cancer: paraneoplastic manifestation or coincidence?  

Microsoft Academic Search

Adult onset Still's disease (AOSD) is an inflammatory disease of unknown etiology, characterized by spiking fever, evanescent\\u000a salmon pink maculopapular rash, arthritis, and leukocytosis with neutrophilia. Malignant lymphoma is one of the most important\\u000a differential diagnoses of AOSD. AOSD has been reported as one of paraneoplastic syndromes associated with breast cancer. We\\u000a report a rare case of occult papillary thyroid

Joong Kyong Ahn; Ji-Min Oh; Jaejoon Lee; Sun Wook Kim; Hoon-Suk Cha; Eun-Mi Koh

2010-01-01

308

Asperger's Syndrome  

Microsoft Academic Search

Asperger's Syndrome (AS), a Pervasive Developmental Disorder on the Autism Spectrum, is a burgeoning mental health concern faced by children, their families, schools, and mental health practitioners. Although it is a relatively new phenomenon, prevalence rates have increased 10 fold in the past decade. Whether this increase is a true increase in the prevalence of the syndrome has been the

Ernst O. Vanbergeijk; Oren Shtayermman

2005-01-01

309

Angelman syndrome  

MedlinePLUS

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

310

Eagle's syndrome.  

PubMed

Eagle's syndrome is a rare entity, which is not commonly suspected in clinical practice. The occurrence of similar signs in diseases other than Eagle's syndrome may make a precise diagnosis difficult and time-consuming for many clinicians. Radiological examinations are useful to make the accurate diagnosis. Three-dimensional volume-rendering CT scan is the most valuable diagnostic tool. PMID:24198961

Bouzaïdi, K; Daghfous, A; Fourati, E; Kechaou, I; Jabnoun, F; Chtioui, I

2013-01-01

311

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

312

Escobar Syndrome Mimicing Congenital Patellar Syndrome  

PubMed Central

Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

2012-01-01

313

Increasing proportion of AIDS diagnoses among older adults in Italy.  

PubMed

We evaluated the impact of AIDS among older persons in Italy and compared these cases with cases among younger persons. The data source was Italy's National AIDS Registry. We considered adults diagnosed with AIDS between 1982 and 2005. Older adults were defined as those aged 50 years or older at diagnosis. Of the total adult cases, 8.8% were among older adults. This proportion increased over time, from 4.9% in 1982-1990 to 15.9% in 2000-2005. Among older adults, the most represented exposure category (80.8%) was sexual intercourse (heterosexual and homosexual). At AIDS diagnosis, older adults, compared to younger adults, had a higher risk of developing AIDS dementia complex or wasting syndrome, and of presenting multiple AIDS-defining illnesses. A significantly lower proportion of older adults were undergoing antiretroviral therapy, compared to younger adults. Among older adults, 67.2% were late testers, compared to 32.8% of younger adults. Most of the older adults acquired the infection through sexual contact; approximately two thirds of them were diagnosed late (i.e., first HIV-positive test 6 months or less before AIDS diagnosis); and only one fourth were undergoing antiretroviral therapy at diagnosis. These observations stress the need to more seriously consider the possibility of HIV infection among older individuals and to collect more detailed information on their sexual behavior. PMID:18435593

Longo, Benedetta; Camoni, Laura; Boros, Stefano; Suligoi, Barbara

2008-05-01

314

Periodic Syndromes  

Microsoft Academic Search

\\u000a \\u000a \\u000a \\u000a \\u000a  \\u000a \\u000a Hereditary periodic fever syndromes are autoinflammatory diseases characterized by episodes of fever with serosal, synovial,\\u000a and\\/or skin inflammation.\\u000a \\u000a \\u000a \\u000a \\u000a  \\u000a \\u000a Familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) are inherited in an autosomal\\u000a recessive manner and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), familial cold autoinflammatory syndrome\\u000a (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease

John G. Ryan; Daniel L. Kastner

315

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

316

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

317

Wernicke's Encephalopathy Mimicking Acute Onset Stroke Diagnosed by CT Perfusion.  

PubMed

Background. Metabolic syndromes such as Wernicke's encephalopathy may present with a sudden neurological deficit, thus mimicking acute onset stroke. Due to current emphasis on rapid admission and treatment of acute stroke patients, there is a significant risk that these stroke mimics may end up being treated with thrombolysis. Rigorous clinical and radiological skills are necessary to correctly identify such metabolic stroke mimics, in order to avoid doing any harm to these patients due to the unnecessary use of thrombolysis. Patient. A 51-year-old Caucasian male was admitted to our hospital with suspicion of an acute stroke due to sudden onset dysarthria and unilateral facial nerve paresis. Clinical examination revealed confusion and dysconjugate gaze. Computed tomography (CT) including a CT perfusion (CTP) scan revealed bilateral thalamic hyperperfusion. The use of both clinical and radiological findings led to correctly diagnosing Wernicke's encephalopathy. Conclusion. The application of CTP as a standard diagnostic tool in acute stroke patients can improve the detection of stroke mimics caused by metabolic syndromes as shown in our case report. PMID:24716022

Bhan, Alok; Advani, Rajiv; Kurz, Kathinka D; Farbu, Elisabeth; Kurz, Martin W

2014-01-01

318

Anesthetic management of HELLP syndrome complicating primary antiphospholipid syndrome -A case report-  

PubMed Central

Antiphospholipid syndrome (APS) is defined as an autoimmune disorder characterized by recurrent thrombosis or obstetrical morbidity. A 29-year-old woman who was diagnosed with APS underwent emergency cesarean delivery at 23 weeks' gestation. She had a seizure attack and her laboratory findings were: AST/ALT 1459/1108 IU/L, LDH 1424 IU/L, 30% hematocrit, a platelet count of 43 × 103/ml and urine protein (4+). We describe the anesthetic experience of catastrophic HELLP syndrome with antiphospholipid syndrome and we review the relevant literature. PMID:22778897

Jo, Youn Yi; Lee, Kyung Cheon; Kim, Hong Soon; Bae, Hyun Kyung

2012-01-01

319

Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome  

PubMed Central

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

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

2014-01-01

320

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

321

Pelvic congestion syndrome: etiology of pain, diagnosis, and clinical management.  

PubMed

Pelvic congestion syndrome is associated with pelvic varicosities that result in chronic pelvic pain, especially in the setting of prolonged standing, coitus, menstruation, and pregnancy. Although the underlying pathophysiology of pelvic congestion syndrome is unclear, it probably results from a combination of dysfunctional venous valves, retrograde blood flow, venous hypertension, and dilatation. Asymptomatic women may also have pelvic varicosities, making pelvic congestion syndrome difficult to diagnose. This article explores the etiologies of pain, use of imaging techniques, and clinical management of pelvic congestion syndrome. Possible explanations for the spectrum of pain among women with pelvic varicosities are also discussed. PMID:24745902

Phillips, Darci; Deipolyi, Amy R; Hesketh, Richard L; Midia, Mehran; Oklu, Rahmi

2014-05-01

322

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

PubMed Central

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

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

2013-01-01

323

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

324

Atypical Kawasaki syndrome: how many symptoms have to be present?  

PubMed Central

A 20 year old woman with acute myocardial infarction exhibited a huge aneurysm of the left main coronary artery that was occluded by a large intraluminal thrombus. After exclusion of other vascular or systemic diseases, atypical Kawasaki syndrome was diagnosed. Other major symptoms usually required for this diagnosis were absent. As patients with Kawasaki syndrome in childhood are surviving longer, acute coronary symptoms may occur in young adults, and coronary aneurysms might be the only symptom of atypical Kawasaki syndrome.?? Keywords: coronary artery disease;  myocardial infarction;  atypical Kawasaki syndrome PMID:9470885

Pfafferott, C.; Wirtzfeld, A.; Permanetter, B.

1997-01-01

325

A Case Report of Reiter's Syndrome with Progressive Myelopathy  

PubMed Central

Reiter's syndrome belongs to the family of spondyloarthropathies that usually present with a triad of arthritis, urethritis, and uveitis. The diagnostic criteria include clinical, radiological, and genetic findings, and the response to treatment. Nervous system involvement in Reiter's syndrome is extremely rare. We report here on a 36-year-old man who initially presented with progressive cervical myelopathy and was diagnosed as Reiter's syndrome 2 years later. The myelopathy was stable after treatment with methotrexate and sulfasalazine. This case suggests that Reiter's syndrome can present as progressive myelopathy and should be considered in the differential diagnosis of treatable myelopathies. PMID:19513137

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

2007-01-01

326

Radiologically indeterminate pulmonary cysts in Birt-Hogg-Dubé syndrome.  

PubMed

Birt-Hogg-Dubé (BHD) syndrome is an inherited disease characterized by recurrent pneumothorax. We report some unusual clinicopathologic features of the lung in a Japanese family with this syndrome presenting with recurrent pneumothorax. Radiologic imaging did not show detectable lesions; however, at video-assisted thoracic surgery (VATS), multiple diffusely distributed microcysts were visible on the pleura. This characteristic morphologic feature was common to all affected family members. The proband underwent genetic testing and BHD syndrome was diagnosed. Although many patients with BHD syndrome with pneumothorax show obvious pulmonary cysts, this case suggests that radiologically indeterminate cysts have the potential to cause pneumothorax. PMID:24484808

Onuki, Takuya; Goto, Yukinobu; Kuramochi, Masami; Inagaki, Masaharu; Bhunchet, Ekapot; Suzuki, Keiko; Tanaka, Reiko; Furuya, Mitsuko

2014-02-01

327

Fetal Alcohol Syndrome  

MedlinePLUS

... Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in ...

328

How Are Pelvic Floor Disorders Diagnosed?  

MedlinePLUS

... Trials Resources and Publications En Español How are pelvic floor disorders diagnosed? Skip sharing on social media ... bulge that suggests a prolapse during a routine pelvic exam. In other cases, a woman may see ...

329

How Is High Blood Cholesterol Diagnosed?  

MedlinePLUS

... Is High Blood Cholesterol Diagnosed? Explore High Blood Cholesterol What Is... Other Names Causes Signs & Symptoms Diagnosis Treatments Clinical Trials Links Related Topics Atherosclerosis Carotid Artery Disease Coronary Heart Disease Heart Attack Peripheral Arterial Disease Send a ...

330

Diagnosing spatial variation patterns in manufacturing processes  

E-print Network

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

Lee, Ho Young

2004-09-30

331

How Is High Blood Pressure Diagnosed?  

MedlinePLUS Videos and Cool Tools

... are here Home » Health Information for the Public » Health Topics » High Blood Pressure » How Is High Blood Pressure Diagnosed? Explore High Blood Pressure What Is... Other Names Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical ...

332

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 ...

333

How Is Sickle Cell Anemia Diagnosed?  

MedlinePLUS

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

334

How Do Health Care Providers Diagnose Endometriosis?  

MedlinePLUS

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

335

How Do Health Care Providers Diagnose Pheochromocytoma?  

MedlinePLUS

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

336

How Do Health Care Providers Diagnose Hypoparathyroidism?  

MedlinePLUS

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

337

Diagnosing Asthma in Very Young Children  

MedlinePLUS

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

338

Olmsted Syndrome  

PubMed Central

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

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

2012-01-01

339

Genetic Predisposition Increases the Tic Severity, Rate of Comorbidities, and Psychosocial and Educational Difficulties in Children With Tourette Syndrome.  

PubMed

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

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

2014-08-24

340

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

ERIC Educational Resources Information Center

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

Richardson, Lolita Lisa

2010-01-01

341

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

342

Amyloidosis and POEMS Syndrome  

PubMed Central

Importance of the field Treatment options for amyloidosis and POEMS have rapidly increased in the past years, but many patients are diagnosed late in the disease course and do not receive state of the art therapy Areas covered in this review Stem cell transplantation and novel agents have widened the chemotherapy alternatives available in these disorders and combinations of novel agents with high dose therapy further improve treatment opotions. This review covers the main areas of debate in the optimal treatment amyloidosis and POEMS patients, focusing on the implications for everyday clinical practice and management strategies published in the past 36 months. What the reader will gain Insights into treatment strategies are provided in the review. Keys to early recognition of the syndromes are reviewed Take home message With early diagnosis most patients are therapy candidates. New agents and new application of stem cell transplantation have dramatically improved outcomes for these previously uniformly poor prognosis disorders. PMID:20426710

Chee, Cheng E. M.D.; Dispenzieri, Angela M.D.; Gertz, Morie A. M.D

2010-01-01

343

Systemic corticosteroids as first-line treatment in pulmonary hypertension associated with the POEMS syndrome* Corticoide sistêmico como tratamento de primeira linha da hipertensão pulmonar secundária a síndrome POEMS  

Microsoft Academic Search

The POEMS syndrome is a rare plasma cell disease. Pulmonary hypertension is an infrequent respiratory complication of this syndrome and might be associated with increased levels of various cytokines, chemokines and growth factors as part of the inflammatory phenomena that involve the physiopathology of POEMS syndrome. We present the case of a 54-year-old woman diagnosed with POEMS syndrome and pulmonary

Samia Rached; Rodrigo Abensur Athanazio; Sérvulo Azevedo; Dias Júnior; Carlos Jardim; Rogério Souza

344

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 ...

345

Wellens' syndrome.  

PubMed

A 31-year-old male smoker with diabetes mellitus presented with intermittent, exertional chest pain. Electrocardiography revealed anterior T-wave inversions with biphasic lateral T waves, which raised concern about Wellens' syndrome. PMID:25551527

Kannan, Lakshmi; Figueredo, Vincent M

2015-01-01

346

Troyer Syndrome  

MedlinePLUS

... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Troyer Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

347

Marfan Syndrome  

MedlinePLUS

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

348

Marfan syndrome  

MedlinePLUS

Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

349

Alagille Syndrome  

MedlinePLUS

... person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal ... for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart ...

350

Moebius Syndrome  

MedlinePLUS

... syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, ... areas of damage, and hardened tissue in the brainstem nuclei, and, Group IV, characterized by muscular symptoms ...

351

Alport Syndrome  

MedlinePLUS

... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... Register Now KEEP Healthy Event at Terre Haute Boys and Girls Club Mar 01, 2015 KEEP Healthy Event at ...

352

Asperger syndrome  

MedlinePLUS

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

353

Piriformis Syndrome  

MedlinePLUS

... and lifestyle changes. Failure to treat this condition can lead to permanent nerve damage, so be sure to follow your doctor’s instructions. Self-care tips for piriformis syndrome include the following: ...

354

Aortoduodenal syndrome.  

PubMed

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

Takagi, H; Watanabe, T; Umemoto, T

2014-09-12

355

Cushing's Syndrome  

MedlinePLUS

... Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on ...

356

Cushing syndrome  

MedlinePLUS

... Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 15. Susmeeta TS, Nieman LK. Cushing's syndrome: all variants, detection, and treatment. Endocrinol Metab Clin ...

357

Bartter syndrome  

MedlinePLUS

... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

358

Aicardi syndrome  

MedlinePLUS

... the two sides of the brain (called the corpus callosum) is partly or completely missing. Nearly all ... Aicardi syndrome if they meet the following criteria: Corpus callosum that is partly or completely missing Female ...

359

Marfan Syndrome  

MedlinePLUS

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

360

Metabolic Syndrome  

MedlinePLUS

... to manage your condition. Medications can also treat risk factors such as high blood pressure or high blood glucose. If you think you have risk factors for the metabolic syndrome, talk with your doctor. ...

361

Gardner Syndrome  

MedlinePLUS

... syndrome also have a higher risk of developing colorectal cancer and other FAP-related cancers . Other features of ... person with multiple adenomatous colon polyps and/or colorectal cancer along with some of the benign tumors listed ...

362

[Ogilvie's syndrome].  

PubMed

"Ogilvie's syndrome" or the idiopathic dilatation of the colon is an infrequent pathology whose underlying physiopathology is not yet well known. On the basis of their experience and having reviewed the literature, the authors affirm that this syndrome is caused by the inhibition of gastrointestinal hormones which, under the control of the neurohypophysis, contribute to colon motility. This supposition is backed up by the fact that medical treatment with somatostatin or octreotide leads to the resolution of the disorder. PMID:9676186

Vadalà, G; Santonocito, G; Mangiameli, A; Castorina, R; Caragliano, L; Caragliano, P

1998-05-01

363

Cardiometabolic Syndrome  

Microsoft Academic Search

\\u000a Cardiometabolic syndrome is a common condition that is increasing in prevalence in the USA and developing nations. Epidemiological\\u000a studies indicate a strong association between cardiometabolic syndrome and subsequent risks for diabetes and cardiovascular\\u000a events. Accumulating evidence suggests it may also be a risk factor for incident chronic kidney disease (CKD) and cardiovascular\\u000a events in individuals with pre-existing CKD. In studies

Manjula Kurella Tamura; Tara I. Chang

364

Turner Syndrome  

Microsoft Academic Search

\\u000a Turner syndrome (TS) or monosomy X, is the most common cause of hypergonadotropic hypogonadism in girls and young women. This\\u000a chapter reviews the prevalence and different presentations of the syndrome and explains its chromosomal origins. The interpretation\\u000a of chromosomal studies in diagnosis of and prognosis for TS, including prenatal testing, is reviewed. The most recent data\\u000a on the TS phenotypic

Carolyn A. Bondy

365

[Edwards' syndrome].  

PubMed

Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type. PMID:455513

Zuntová, A; Goetz, P; Macek, M; Karpenko, A

1979-05-01

366

Noonan syndrome  

PubMed Central

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

2014-01-01

367

Historical facts of screening and diagnosing diabetes in pregnancy.  

PubMed

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

Negrato, Carlos Antonio; Gomes, Marilia Brito

2013-01-01

368

Total anomalous pulmonary venous return and Mayer–Rokitansky–Kuster–Hauser syndrome  

Microsoft Academic Search

We present an adult woman with total anomalous pulmonary venous return (TAPVR) and Mayer–Rokitansky–Kuster–Hauser syndrome that was diagnosed intraoperatively during a planned atrial secundum defect closure. Surgical repair of TAPVR was performed with good outcome.

Julio C. Vasquez; Jacob DeLaRosa; Efrain Montesinos; Edmundo Rosales; Roy Duenas; Aida Rotta; Juan J. Leon

2008-01-01

369

Polycystic ovary syndrome: challenges in adolescence.  

PubMed

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

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

2010-01-01

370

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 ...

371

Tics and Tourette Syndrome  

MedlinePLUS

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

372

Androgen insensitivity syndrome  

MedlinePLUS

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

373

Hantavirus Pulmonary Syndrome  

MedlinePLUS

... for ENews Home > Lung Disease > Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome Hantavirus pulmonary syndrome (HPS) is a disease that comes ... may improve a person's chances of recovery. Understanding Hantavirus Pulmonary Syndrome Symptoms, Diagnosis and Treatment Preventing Hantavirus ...

374

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

375

Marfan syndrome masked by Down syndrome?  

Microsoft Academic Search

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare.\\u000a We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly\\u000a few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic\\u000a expression of Marfan syndrome

J. C. Vis; K. van Engelen; J. Timmermans; B. C. J. Hamel; B. J. M. Mulder

2009-01-01

376

Hyperventilation and exhaustion syndrome  

PubMed Central

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

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

2014-01-01

377

[Childhood periodic syndromes].  

PubMed

This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis is entertained after exhaustive evaluations have proved unrevealing. The recommended diagnostic approach uses a strategy of targeted testing, which may include gastrointestinal and metabolic evaluations. Therapeutic recommendations include reassurance, both of the child and parents, lifestyle changes, prophylactic therapy (e.g., cyproheptadine in children 5 years or younger and amitriptyline for those older than 5 years), and acute therapy (e.g., triptans, as abortive therapy, and 10% glucose and ondansetron for those requiring intravenous hydration). PMID:20447666

Cuvellier, J-C; Lépine, A

2010-01-01

378

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

379

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

380

Ellis-van Creveld syndrome.  

PubMed

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

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

2013-01-01

381

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

382

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

383

Coexistence of Ankylosing Spondylitis and Löfgren's Syndrome  

PubMed Central

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

384

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

385

[Overview: diagnosis of vestibular syndromes].  

PubMed

Vestibular syndromes are one of the commonest paroxysmal disorders in our clinical practice. These consist of vertigo, oculomotor abnormalities (nystagmus), postural changes and nausea/vomiting. Vertigo can be classified as real vertigo and dizziness, based upon the presence of clinical rotatory perception. In order to diagnose a responsible lesion for various central and peripheral vestibular syndromes, we have to carefully observe nystagmus in patients with acute vertigo. Gaze-evoked nystagmus is the most important nystagmus in patients with the central vestibular syndromes. The finding is easily found at the bed side examination. In order to keep a velocity-position neural signal such as gaze holding, the neural structure to hold and maintain the neural command for a saccade is hypothesized and this has been called as the brainstem neural integrator, which sends tonic-step commands for eccentric gaze. If this fails then the integrator becomes leaky and the eyes drift back to the central position. This movement necessitates corrective saccades, hence gaze-evoked nystagmus will ensue. Vertical nystagmus such as primary position upbeat or downbeat nystagmus is also seen only in the central vestibular syndromes. The detection and diagnosis of these characteristic nystagmus are essential for primary clinicians who care patients with acute vertigo. PMID:22277489

Hirose, Genjiro

2011-11-01

386

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. PMID:25429182

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

2014-01-01

387

Cushing's syndrome in pregnancy: a diagnostic conundrum.  

PubMed

A 31 year old woman who was 16 weeks pregnant was admitted because of headache, blurred vision, excessive weight gain, and hirsutism. Laboratory tests showed low adrenocorticotropic hormone (ACTH) and elevated serum and urinary cortisol. Magnetic resonance imaging showed a left adrenal mass. Left adrenalectomy was done, and histopathology showed an adrenal adenoma. The patient had an uncomplicated delivery after 37 weeks of gestation. Cushing's syndrome is very rare in pregnancy. It may be difficult to diagnose because the clinical and laboratory signs of Cushing's syndrome may be similar to those of pregnancy. PMID:24371863

Garla, Vishnu; Kheetan, Reem; Saleem, Tipu

2013-01-01

388

Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome  

PubMed Central

Ankylosing spondylitis is a chronic inflammatory disease characterized by inflammatory lower back pain and morning stiffness and accompanied by spine and sacroiliac joint involvement. Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Nonsteroidal anti-inflammatory drug and salazopyrine treatment resulted in significant regression in his complaints. PMID:23762731

Kobak, ?enol; Yalçin, Murat; Karadeniz, Muamer; Oncel, Guray

2013-01-01

389

Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome.  

PubMed

Ankylosing spondylitis is a chronic inflammatory disease characterized by inflammatory lower back pain and morning stiffness and accompanied by spine and sacroiliac joint involvement. Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Nonsteroidal anti-inflammatory drug and salazopyrine treatment resulted in significant regression in his complaints. PMID:23762731

Kobak, Senol; Yalçin, Murat; Karadeniz, Muamer; Oncel, Guray

2013-01-01

390

A rare case of Kartagener's syndrome  

PubMed Central

A young boy presented with cough and intermittent breathlessness for 3 months. He used to suffer from frequent cough and cold since childhood. Clinical examination revealed bilateral coarse basal crepitations and rhonchi. His apex beat was on right 5th intercostal space in mid-clavicular line. Investigation revealed situs inversus, bi-lateral bronchiectasis, and chronic sinusitis. His semen analysis revealed the complete absence of sperm. The Saccharin test revealed impaired nasal ciliary movement. Considering all the finding, he was diagnosed as a case of Kartagener's syndrome. We are reporting this case because of its rarity and rare presence of aspermia in Kartagener's syndrome. PMID:24678221

Pandit, Sudipta; Choudhury, Sabyasachi; Das, Anirban; Basuthakur, Sumitra; Das, Sibes Kumar

2014-01-01

391

Proteus syndrome.  

PubMed

Proteus syndrome is a rare sporadic, hamartoneoplastic disorder of vascular, skeletal, and soft tissues that causes asymmetry of the skull, body, arms, and the legs. The name "Proteus" of the Greek god who had the ability to change his shape was coined to define the variety of deformities including partial gigantism of the hands or feet, asymmetry of the arms and legs, hypertrophy of long bones, plantar hyperplasia, haemangiomas, lipomas, varicosities, linear verrucous epidermal naevi, macrocephaly, and cranial hyperostoses. The basic defect seems to be the focal overgrowth of cellular elements in skin, bone, and other connective tissues. The variable features of the syndrome make differential diagnosis challenging for clinicians. The most important features are the hamartomatous disorders. The long-term prognosis is still not clear. As it is a hamartoneoplastic and incompletely delineated syndrome, the patients must be followed up because of the possible risk of neoplasms. PMID:14649692

Bilkay, Ufuk; Tokat, Cenk; Ozek, Cuneyt; Gundogan, Hakan; Erdem, Ozgur; Gurler, Tahir; Cagdas, Arman

2003-01-01

392

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

393

Apert's Syndrome  

PubMed Central

ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

2014-01-01

394

Cardiorenal syndromes  

PubMed Central

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

McCullough, Peter A; Ahmad, Aftab

2011-01-01

395

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

PubMed

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

Shim, Se-Hoon; Kwon, Young-Joon

2014-12-01

396

Adolescent with Tourette Syndrome and Bipolar Disorder: A Case Report  

PubMed Central

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

Kwon, Young-Joon

2014-01-01

397

Common variable immunodeficiency complicated with hemolytic uremic syndrome  

PubMed Central

Common variable immunodeficiency is a primary immunodeficiency disease characterized by reduced serum immunoglobulins and heterogeneous clinical features. Recurrent pyogenic infections of upper and lower respiratory tracts are the main clinical manifestations of common variable immunodeficiency. Hemolytic uremic syndrome is a multisystemic disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, and organ ischemia due to platelet aggregation in the arterial microvasculature. This is one of the rare cases of patients diagnosed with common variable immunodeficiency, which was complicated by hemolytic uremic syndrome. PMID:22059898

2012-01-01

398

Comparative aspects of Cushing's syndrome in dogs and cats.  

PubMed

Naturally occurring hyperadrenocorticism (Cushing's syndrome) is extremely common in dogs, with an incidence far greater than that in humans. The incidence of the syndrome in cats, much less frequently diagnosed than in dogs, probably is similar to that in humans. Many features of canine hyperadrenocorticism are strikingly similar to those in humans; however, several alterations in dogs are unique and not observed in other species. Clinical features and hospital testing abnormalities are reviewed in this article. PMID:7805662

Feldman, E C; Nelson, R W

1994-09-01

399

Flammer syndrome  

PubMed Central

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

2014-01-01

400

Flammer syndrome.  

PubMed

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

Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

2014-01-01

401

Cardiohepatic Syndrome.  

PubMed

Accumulating evidence shows that acute as well as chronic heart disease can directly contribute to an acute or chronic worsening of liver function and vice versa. Description and definition of cardiohepatic syndrome (CHS) in this review are based on the cardiorenal syndrome (CRS) concept. The eye-catching analogy between CHS and CRS is applied to facilitate an understanding of the pathophysiology and overall burden of disease for each of the proposed CHS subtypes, their natural course, and associated morbidity and mortality. PMID:25391350

Poelzl, Gerhard; Auer, Johann

2014-11-13

402

Piriformis syndrome.  

PubMed

The author presents a case of a female runner with left buttock pain aggravated by exercise. She underwent extensive testing by other physicians and received cortisone injections on two occasions. The patient was referred to the podiatry department because of continued discomfort and the inability to run. Examination revealed pain on hip flexion and abduction against resistance. Because of the possibility of piriformis syndrome, she started stretching exercises, reduced her activity, and the pain disappeared. The diagnosis of piriformis syndrome was confirmed by a general surgeon. PMID:2724111

Julsrud, M E

1989-03-01

403

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.  

PubMed

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation. PMID:21253317

Choi, Won Ik; Kim, Ji Hye; Yoo, Han Wook; Oh, Sung Hee

2010-12-01

404

Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome  

Microsoft Academic Search

PURPOSE: Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. Despite much speculation, the cause of osteochondrosis in general and osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) in particular remain unclear. Etiological understanding is essential. We describe a pair of family subjects presented with OCD and

Ali Al Kaissi; Klaus Klaushofer; Franz Grill

2009-01-01

405

[ST segment elevation typical for Brugada syndrome after intracoronary acetylocholine injection with retrosternal pain in history].  

PubMed

Chest pain is mainly linked with acute coronary syndrome, but sometimes it can be the only manifestation of ventricular tachycardia. We present a case of a young man who was diagnosed with Brugada syndrome after intracoronary acetylocholine injection, with negative test with flecanaide. First manifestation of a disease was a chest pain. PMID:22267434

Jankiewicz, Stanis?aw; B?aszyk, Krzysztof; Mularek-Kubzdela, Tatiana; Skorupski, W?odzimierz; Araszkiewicz, Aleksander; P?awski, Andrzej

2012-01-01

406

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.

407

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

408

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

409

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

410

Klinefelter's syndrome associated with progressive systemic sclerosis: Report of a case and review of the literature  

Microsoft Academic Search

Summary A case of Klinefelter's syndrome associated with progressive systemic sclerosis (PSS) is described. The patient had been infertile for 20 years after marriage and was diagnosed as PSS with Klinefelter's syndrome at the age of 43. In reviewing the literature, we observed that five cases with PSS within the range of 41 to 61 years of age, and seventeen

S. Kobayashi; T. Shimamoto; O. Taniguchi; H. Hashimoto; S. Hirose

1991-01-01

411

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

412

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

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

Prevention of liver failure in parenteral nutrition-dependent children with short bowel syndrome  

Microsoft Academic Search

Progressive liver failure in parenteral nutrition (PN)-dependent children with short bowel syndrome carries significant morbidity and mortality. The authors retrospectively reviewed 47 consecutive patients with short bowel syndrome diagnosed from October 1985 through October 1995. All patients were treated according to a protocol designed to promote intestinal motility and discourage bacterial translocation. Elements of the protocol included the use of

John J Meehan; Keith E Georgeson

1997-01-01

415

Autism Spectrum Disorder Diagnoses in Stockholm Preschoolers  

ERIC Educational Resources Information Center

The aims of this study were to estimate prevalence rates of children with autism spectrum disorder (ASD) diagnoses in a cohort of 6-year-old children with birth year 2002, referred to the Autism Centre for Young Children, serving the whole of Stockholm county and on the basis of the available data discuss clinical aspects of assessment,…

Fernell, Elisabeth; Gillberg, Christopher

2010-01-01

416

How to Diagnose Allergic Bronchopulmonary Aspergillosis  

Microsoft Academic Search

An immunologically mediated lung disease, allergic bronchopulmonary aspergillosis (ABPA) is predominantly found in patients with asthma and cystic fibrosis (CF). This indolent entity is diagnosed by a set of well established criteria that have unfolded over time. Other than demonstration of central bronchiectasis (CB) with normal tapering bronchi, which is regarded as a key component for the diagnosis of ABPA

Ashok Shah

417

Dynamic Analysis for Diagnosing Integration Faults  

Microsoft Academic Search

Many software components are provided with incomplete specifications and little access to the source code. Reusing such gray-box components can result in integration faults that can be difficult to diagnose and locate. In this paper, we present Behavior Capture and Test (BCT), a technique that uses dynamic analysis to automatically identify the causes of failures and locate the related faults.

Leonardo Mariani; Fabrizio Pastore

2011-01-01

418

Children Diagnosed ADHD: Factors to guide intervention  

Microsoft Academic Search

Psychological, sociological and learning issues and their possible relevance to the behaviour of children diagnosed ADHD were investigated. A questionnaire containing 29 items derived from recommendations for assessment considerations presented in the British Psychological Society's Working Party Report, ? ADHD-A Psychological Response to an Evolving Concept ?, was circulated to schools. Teachers provided views as to the extent these items

Richard A. Cains

2000-01-01

419

[Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults].  

PubMed

Gitelmans syndrome represents the clinical manifestations of inactivating mutations in the gene encoding for the thiazide sensitive sodium chloride cotransporter in the distal convoluted tubule. Thus, the biochemical characteristics resemble those seen with thiazide diuretics: hypokalemia, hypomagnesemia, hypocalcuria, metabolic alkalosis and blood pressure in the low normal range. Until the genetic background was clarified in 1996, Gitelman's syndrome was often mistaken for Bartter's syndrome, which is now attributed to defects in the ion transportation system in the thick ascending limb of Henle's loop. In Bartter's syndrome, hypomagnesemia is not a constant finding and urinary calcium excretion is normal or high. Bartter,s syndrome is often diagnosed neonatally and followed by growth retardation and nefrocalcinosis. Gitelman's syndrome is typically diagnosed accidentally (hypokalemia) in adolescents or adults and the course is benign. If present, the most prominent symptoms are muscular fatigue or occasional tetany. Treatment includes magnesium and potassium supplements and potassium saving diuretics. PMID:12677988

Hansen, Klavs Würgler; Mosekilde, Leif

2003-03-10

420

Pendred Syndrome  

MedlinePLUS

... and neck) or a clinical geneticist will consider hearing loss, inner ear structures, and sometimes the thyroid in diagnosing Pendred ... cochlear implant doesn’t restore or create normal hearing, it bypasses injured areas of the ear to provide a sense of hearing in the ...

421

The Relevance of Inflammatory Markers in Metabolic Syndrome  

PubMed Central

ABSTRACT Objectives: To identify how severe is inflammation in metabolic syndrome using as inflammatory markers: C-reactive protein and leukocytes. To asses these markers considering the diversity of metabolic syndrome elements. Material and method: We performed a study that enrolled 258 patients registered to a family physician and diagnosed with metabolic syndrome. The subjects included in the study were divided in two groups: group A-137 subjects diagnosed with metabolic syndrome that was defined by 3 elements: abdominal obesity+arterial hypertension+diabetes mellitus; group B-121 patients diagnosed with metabolic syndrome based on 5 elements: abdominal obesity+arterial hypertension+diabetes mellitus+decreased high density lipoprotein cholesterol (HDL-C)+increased triglycerides. Results: We observed increased values of CRP and leukocytes for group B in comparison to group A: 0.9±0.8 mg/dl vs 0.79±0.8 mg/dl (p=0.02, significantly statistic). Leukocytes value was higher for group B, but not significantly statistic. Conclusions: Inflammation in patients with metabolic syndrome depends on the number and association of elements that define this entity and it is more accentuated for subjects who associate more elements. PMID:25553120

SUR, Genel; FLOCA, Emanuela; KUDOR-SZABADI, Liana; SUR, Maria Lucia; SUR, Daniel; SAMASCA, Gabriel

2014-01-01

422

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

423

Asperger Syndrome  

MedlinePLUS

... Organizations Column1 Column2 MAAP Services for Autism, Asperger Syndrome, and PDD P.O. Box 524 Crown Point, IN 46308 info@aspergersyndrome.org http://www.aspergersyndrome.org/ Tel: 219-662-1311 Fax: 219-662-1315 Autism Science Foundation 29 West 39th Street Suite 502 New York, NY 10018 ...

424

Klinefelter Syndrome  

MedlinePLUS

... testosterone. That doesn't make a guy less male, but it can affect things like penis and testicle growth. Boys with Klinefelter syndrome may ... bigger muscles, a deeper voice, growth of the penis, and facial and body ... or reverse infertility. Physical therapy, occupational therapy, and ...

425

[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

426

Metabolic Syndrome  

MedlinePLUS

... Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you eat into glucose (a form of sugar). Insulin is a hormone produced by the pancreas that allows ... as insulin resistance. If you have insulin resistance, your body will ...

427

[Locomotive syndrome and metabolic syndrome].  

PubMed

The Japanese Orthopedic Association coined the term locomotive syndrome (LS) to designate a condition of elderly people in high risk groups of requiring nursing care because of problems with their musculoskeletal diseases. LS is a socioeconomic concept, and closely associated with osteoporosis, osteoarthritis, and sarcopenia. Recent studies have revealed that metabolic syndrome (MS), a clustering of cardiovascular risk factors, has been related with LS. For example, individuals with MS have a greater risk of osteoarthritis and sarcopenia. Secreted factors from adipose tissue and skeletal muscles, namely, adipokines and myokines, are involved in the association of LS and MS. PMID:25509811

Fukushi, Jun-ichi; Iwamoto, Yukihide

2014-10-01

428

Paraneoplastic neurological syndromes.  

PubMed

Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, affecting less than 1/10,000 patients with cancer. Only the Lambert-Eaton myasthenic syndrome is relatively frequent, occurring in about 1% of patients with small cell lung cancer. PNS can affect any part of the central and peripheral nervous system, the neuromuscular junction, and muscle. They can be isolated or occur in association. In most patients, the neurological disorder develops before the cancer becomes clinically overt and the patient is referred to the neurologist who has the charge of identifying a neurological disorder as paraneoplastic. PNS are usually severely disabling. The most common PNS are Lambert-Eaton myasthenic syndrome (LEMS), subacute cerebellar ataxia, limbic encephalitis (LE), opsoclonus-myoclonus (OM), retinopathies (cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR), Stiff-Person syndrome (SPS), chronic gastrointestinal pseudoobstruction (CGP), sensory neuronopathy (SSN), encephalomyelitis (EM) and dermatomyositis. PNS are caused by autoimmune processes triggered by the cancer and directed against antigens common to both the cancer and the nervous system, designated as onconeural antigens. Due to their high specificity (> 90%), the best way to diagnose a neurological disorder as paraneoplastic is to identify one of the well-characterized anti-onconeural protein antibodies in the patient's serum. In addition, as these antibodies are associated with a restricted range of cancers, they can guide the search for the underlying tumor at a stage when it is frequently not clinically overt. This is a critical point as, to date, the best way to stabilize PNS is to treat the cancer as soon as possible. Unfortunately, about one-third of patients do not have detectable antibodies and 5% to 10% have an atypical antibody that is not well-characterized. As PNS are believed to be immune-mediated, suppression of the immune response represents another treatment approach. PMID:17480225

Honnorat, Jérôme; Antoine, Jean-Christophe

2007-01-01

429

Imaging findings of Gorlin-Goltz syndrome  

PubMed Central

A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and histopathologic finding of keratocystic odontogenic tumor. PMID:25610614

Hajalioghli, Parisa; Ghadirpour, Ali; Ataie-Oskuie, Reza; Kontzialis, Marinos

2015-01-01

430

Buschke-Ollendorff syndrome: sparing unnecessary investigations.  

PubMed

Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations. PMID:25184645

Surrenti, Tiziana; Callea, Francesco; De Horatio, Laura Tanturri; Diociaiuti, Andrea; El Hachem, Maya

2014-08-01

431

Multiple Aortic Operations in Loeys-Dietz Syndrome: Report of 2 Cases  

PubMed Central

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome. PMID:25551076

Na, Kwon Joong; Park, Kay-Hyun

2014-01-01

432

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, Micha?

2014-01-01

433

[The problems of diagnosis and correction of autism in children (an example of Asperger's syndrome).  

PubMed

Based on the analysis of literature and own clinical experience, we discicuss diagnostic issues of early autistic disorders in children. Main differential-diagnostic signs that permit to differentiate mild forms of autism in childhood diagnosed as Asperger's syndrome from childhood schizophrenia, residual organic CNS damage, circular affective disorders are described. Cases of Asperger's syndrome followed up for many years and recommendations for social and psychological adaptation of children and adolescents with Asperger's syndrome in different age periods are presented. PMID:24637822

Iovchuk, N M; Severny?, A A

2014-01-01

434

Multiple aortic operations in loeys-dietz syndrome: report of 2 cases.  

PubMed

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome. PMID:25551076

Na, Kwon Joong; Park, Kay-Hyun

2014-12-01

435

Supraspinatus and infraspinatus compartment syndrome following scapular fracture  

PubMed Central

Acute compartment syndrome occurs when pressure within a confined fascial space rises to a level impairing microvascular perfusion to surrounding tissues.[1234567] The majority of the reported literature is based on lower extremity compartment syndrome, but any muscle group within an osteofascial compartment has the potential to develop compartment syndrome. We report a case of a 64-year-old male who developed an acute compartment syndrome of both the supraspinatus and infraspinatus after sustaining a severely comminuted scapula fracture. Diagnosis of compartment syndrome was made after intracompartmental pressure measurements of the supraspinatus and infraspinatus revealed pressures within 30 mmHg of the diastolic blood pressure, prompting emergency decompressive fasciotomy. At final follow-up, the examination revealed full shoulder strength with near-full range of motion. There were no signs of sequelae from compartment syndrome at any point. Few case reports describe compartment syndrome of the periscapular fascial compartments. However, these cases were either retrospectively diagnosed[89] or diagnosed via magnetic resonance imaging (MRI) findings and lab values.[910] Surgical management of acute compartment syndrome of the supraspinatus has been reported in only one other case.[10] To our knowledge, we report the only case of a patient with acute compartment syndrome of both the supraspinatus and infraspinatus compartments treated with emergent decompressive fasciotomy. Due to the devastating complications and functional loss of a missed diagnosis of compartment syndrome, a high index of clinical suspicion for developing compartment syndrome must be maintained in every fracture setting, regardless of anatomic location or rarity of reported cases. PMID:23858293

Kenny, Ryan M.; Beiser, Christopher W.; Patel, Arun

2013-01-01

436

[[Current approaches to diagnosing and treating nonalcoholic fatty liver disease].  

PubMed

Nonalcoholic fatty liver disease (NAFLD) is associated with major cardiovascular risk factors, such as type 2 diabetes mellitus, obesity, dyslipidemia, hypertension, and insulin resistance, and has been recently considered to be a new component of metabolic syndrome and it serves as a criterion for the hepatic manifestation of the latter. The review considers the present-day views and approaches to diagnosing and treating NAFLD and its dangerous manifestation - fibrosis (sclerosis), which may lead to cirrhosis and hepatocellular carcinoma. Fibrogenesis is a widespread and universal process that is a final path of chronic inflammation of and damage to different tissues (including those of the liver and cardiovascular system). Although the mechanisms for developing NAFLD remain unclear, insulin resistance, an obesity-related slowly progressive inflammatory response, and elevated levels of free fatty acids with their lipotoxicity along with possible genetic, dietary, and environmental (lifestyle) factors play a key role in the pathogenesis of this disease. So it is important for patients at high risk for NAFLD or with existing liver disease to pay attention to their life style, proper balanced diet, and slow and gradual weight loss. At present there are drugs that can improve liver function. Success in NAFLD therapy will be determined by the identification of the most significant pathogenetic factors in a specific patient and by the purposeful action on them. PMID:25509904

Drapkina, O M; Deeva, T A; Volkova, N P; Ivashkin, V T

2014-01-01

437

Difficult Diagnoses in Hyperkinetic Disorders – A Focused Review  

PubMed Central

Hyperkinesias are heterogeneous conditions that share the feature of production of involuntary, abnormal, excessive movements. Tremor, dystonia, and chorea are amongst the most common of these phenomena. In this focused review there is a discussion of difficult issues in hyperkinesias. The first one is the differential diagnosis between essential tremor (ET) and Parkinson’s disease (PD). They are readily distinguishable in the majority of patients but in a few subjects ET coexist with parkinsonian features whose underlying mechanism remains to be determined. The second topic of the review is dystonic tremor. Although increasingly diagnosed and reported as accounting for the majority of scans without evidence of dopaminergic deficits, its diagnostic criteria are ill-defined and differentiation from PD and ET can be challenging. In the last section, there is a discussion of the differential diagnosis of Sydenham’s chorea (SC), the most common cause of chorea in children. In a few patients, vascular disease, systemic lupus erythematosus, and primary antiphospholipid antibody syndrome can mimic SC. PMID:23112789

Cardoso, Francisco

2012-01-01

438

The Source for Syndromes.  

ERIC Educational Resources Information Center

Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

Richard, Gail J.; Hoge, Debra Reichert

439

Autoimmune Polyglandular Syndrome Type 1  

PubMed Central

Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible. PMID:23230544

Ponranjini, Vedeswari C.; Jayachandran, S; Kayal, L; Bakyalakshmi, K

2012-01-01

440

Two Patients Diagnosed with Juvenile Myoclonic Epilepsy by First-Ever Status Epilepticus in Adult Life  

PubMed Central

Juvenile myoclonic epilepsy (JME) is an idiopathic, age-related generalized epileptic syndrome. Status epilepticus (SE) in JME is very rare, and little is known about its etiology. We report 2 cases of adult patients, retrospectively diagnosed as JME by non convulsive status epilepticus which occurred for the first time. One patient was a 52-year-old woman who was presented with confusion and brief generalized tonic-clonic seizure (GTCS) for the first time. The other patient, a 39 year-old woman, visited the ER with transient LOC following confused mental state. Electroencephalograms of both patients repetitively showed generalized polyspikes and slow waves which were disappeared after IV injection of lorazepam. With careful history taking, both of them the patients were diagnosed as JME, and the seizures stopped just after sodium valproate medication. NCSE in patients with JME is rare but detailed history taking and suspicion of the disorder is helpful for diagnosis. PMID:24649443

Jeong, Hye Seon; Moon, Jeong Soo; Oh, Eung Seok; Kim, Jae Moon

2011-01-01

441

[Severe deglutition disorders and iron deficiency; Plummer-Vinson syndrome].  

PubMed

At oesophagogastroscopy a web was seen in the upper oesophagus in a female of 73 years with dysphagia. Because she also had a smooth tongue, a low serum iron level and anaemia, the syndrome of Plummer-Vinson was diagnosed. After treatment with ferrous fumarate the dysphagia, the web and the anaemia disappeared and the serum iron rose. The symptomatology of this syndrome is discussed. Remarkably, the pathogenesis is not completely known. There are indications that this uncommon syndrome is a premalignant disorder. PMID:1944691

Geerlings, S E; Statius van Eps, L W

1991-11-01

442

[Osteosarcoma and ATR-16 syndrome: Association or coincidence?].  

PubMed

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma. PMID:24631100

Regueiro García, A; Saborido Fiaño, R; González Calvete, L; Vázquez Donsión, M; Couselo Sánchez, J M; Fernández Sanmartín, M

2015-01-01

443

A case of the nutcracker syndrome developed after delivery.  

PubMed

We report a case of nutcracker syndrome that developed after delivery. A 32-year-old woman visited our clinic complaining of gross hematuria 4 months after delivery. Urethrocystoscopic examination failed to show hematuria coming from the ureteral orifice; however, enhanced computed tomography revealed the compression of the left renal vein between the aorta and superior mesenteric artery. Therefore, we diagnosed her with nutcracker syndrome and conservatively observed her. The macrohematuria disappeared by itself after 1 month. This is the first report to describe a case of nutcracker syndrome that developed after delivery. PMID:25140272

Tsumura, Koji; Yoshida, Kanae; Yamamoto, Sachi; Takahashi, Sayuri; Iida, Katsuyuki; Enomoto, Yutaka

2014-01-01

444

Superior mesenteric artery syndrome in a patient with cerebral palsy.  

PubMed

Superior mesenteric artery syndrome involves compression of the third part of the duodenum due to narrowing of the area between the aorta and the superior mesenteric artery (SMA). We will describe the case of a 34-year-old with cerebral palsy who presented with abdominal pain, nausea, vomiting, and weight loss and was diagnosed with SMA syndrome via CT-imaging. With failure of conservative measures, our patient underwent a duodenojejunostomy after which improvement in her weight as well as relief of her abdominal symptoms was noted. Given the rarity of this syndrome, physicians need to keep a high index of suspicion in order to prevent the damaging consequences. PMID:25053950

Neuman, Adi; Desai, Bhavita; Glass, Daniel; Diab, Wassim

2014-01-01

445

Anesthetic and dental management of a child with IMAGe syndrome.  

PubMed

IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. Though variable, this disorder mainly consists of Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities. Patients with IMAGe syndrome present as an uncommon yet important challenge for dentists and anesthesiologists due to their wide range of dysmorphic facial features, adrenal insufficiency, electrolyte imbalances, and need for steroid replacement. The purpose of this case report is to describe the successful anesthetic management of a pediatric patient diagnosed with IMAGe syndrome who presented for full mouth dental rehabilitation. PMID:25517553

Lindemeyer, Rochelle G; Rashewsky, Stephanie E; Louie, Phillip J; Schleelein, Laura

2014-01-01

446

Eagle's syndrome: A rare case of young female.  

PubMed

Eagle's syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle's syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ) conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle's syndrome. PMID:24130598

Baseer, Mohammad Abdul; Alenazy, Mohammed Suliman

2013-07-01

447

Syndrome in question. MAGIC syndrome.  

PubMed

The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673

Nascimento, Ana Cláudia Mendes do; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante

2014-01-01

448

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

449

Perinatal outcome in the live-born infant with prenatally diagnosed omphalocele.  

PubMed

We compared perinatal outcomes between live-born nonisolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Fetuses (n = 86) with omphalocele were identified between 1995 and 2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks' gestation, available fetal and/or neonatal karyotype, and a live-born infant (n = 46). Perinatal outcomes were compared in nonisolated (n = 23) and isolated omphaloceles (n = 23). For all omphaloceles, the majority delivered after 34 weeks by cesarean. Mean birth weight (2782 versus 2704 g), median length of stay (27 versus 25 days), and mortality (two deaths in each group) were not different between the nonisolated and isolated groups (p > 0.05). In the nonisolated group, seven major anomalies were not confirmed postnatally. Of the prenatally diagnosed isolated omphaloceles, 8 (35%) were diagnosed with a syndrome or other anomalies after birth. The outcomes were similar in nonisolated and isolated prenatally diagnosed omphaloceles, but ultrasound did not always accurately determine the presence or absence of associated anomalies. PMID:21544770

Kominiarek, Michelle A; Zork, Noelia; Pierce, Sara Michelle; Zollinger, Terrell

2011-09-01

450

Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and Gerhardt syndrome associated with Shy-Drager syndrome.  

PubMed

This is the first report on a case of syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with Gerhardt syndrome (paralysis of bilateral vocal cords). A 67-year-old Japanese man suffering from progressive autonomic failure was diagnosed as having Shy-Drager syndrome (SDS) with hyponatremia due to SIADH and severe sleep apnea caused by a bilateral recurrent nerve palsy. Water load test showed alteration in diuresis which was corrected by phenytoin. Arginine vasopressin secretion was not suppressed by plasma osmolality below 280 mOsm/kgH2O. Impairment of the afferent pathways of baroreceptors, or impairment of the osmoreceptors could be speculated as the etiological factor of the SIADH observed in this case. PMID:7718959

Sone, H; Okuda, Y; Bannai, C; Suzuki, S; Yamaoka, T; Asakura, Y; Kawakami, Y; Odawara, M; Matsushima, T; Kawai, K

1994-12-01

451

Method of thermography in diagnosing cardiovascular diseases  

NASA Astrophysics Data System (ADS)

We investigated the possibility of using infrared thermography (IT) in diagnosing the commonest cardiovascular diseases: ischemic heart disease (IHD) and hypertensive disease (HD). We show that the IT method allows one to evaluate the condition of peripheral blood flow, but the results of examination depend greatly on the presence of accompanying diseases (osteochondrosis, varicosis). The IT method is not specific enough to evaluate the functional state of a myocardium.

Lazyuk, D. G.; Sidorenko, I. V.; Krushevskaya, T. V.

1996-05-01

452

How to Diagnose Allergic Bronchopulmonary Aspergillosis  

Microsoft Academic Search

\\u000a An immunologically mediated lung disease, allergic bronchopulmonary aspergillosis (ABPA) is predominantly found in patients\\u000a with asthma and cystic fibrosis (CF). This indolent entity is diagnosed by a set of well established criteria that have unfolded\\u000a over time. Other than demonstration of central bronchiectasis (CB) with normal tapering bronchi, which is regarded as a key\\u000a component for the diagnosis of ABPA

Ashok Shah

453

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, Bolaños-Jiménez; Paulina, López-Lizárraga E; Francesc, March de R; Eduardo, Telich-Tarriba J; Alejandro, Navas

2014-01-01

454

Sheehan's Syndrome Presenting as Major Depressive Disorder.  

PubMed

Sheehan's syndrome or Simmond's disease is a rare endocrine disorder seen in clinical practice. The clinical spectrum is diverse and a high index of suspicion together with a good clinical acumen and proper diagnostic approach helps in early diagnosis and prompt treatment of this endocrinopathy. Sheehan's syndrome presenting as a major depressive disorder finds less mention in the literature. The patient discussed here is a 45-year-old female who had been on antidepressants and psychiatry follow up for a long time until she presented to our Out Patient Department (OPD), where she was evaluated in detail and diagnosed as a case of Sheehan's syndrome. The patient is doing well and is on a regular follow-up with us. Further studies are required to demystify the strength of this association in more detail and to elucidate the possible underlying mechanism. PMID:25648343

Qadri, Mehmood I; Mushtaq, Mohsin Bin; Qazi, Iram; Yousuf, Sameena; Rashid, Aaliya

2015-01-01

455

Dravet syndrome  

PubMed Central

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB). DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+). PMID:19737414

Incorpora, Gemma

2009-01-01

456

Overtraining Syndrome  

PubMed Central

Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

Kreher, Jeffrey B.; Schwartz, Jennifer B.

2012-01-01

457

Brugada syndrome.  

PubMed

As a clinical entity the Brugada syndrome has existed since 1992 and has been associated with a high risk of sudden cardiac death predominately in younger males. Patients can present with symptoms (ie syncope, palpitations, aborted sudden cardiac death) and asymptomatically. Its three characteristic electrocardiographic patterns can occur both spontaneously or after provocation with sodium channel-blocking agents. Risk stratification and the need for treatment depend on the patient's symptoms, electrocardiography, family history, and electrophysiological inducibility to discern if treatment by implantable cardioverter defibrillator, the only effective treatment to date, is appropriate. This review focuses on Brugada syndrome and various aspects of the disease including proposed mechanisms, epidemiology, clinical presentations, genetics, diagnosis, risk stratification, and treatment options. PMID:23535677

Jellins, Jessica; Milanovic, Mitchell; Taitz, David-Joel; Wan, S H; Yam, P W

2013-04-01

458

Respiratory Distress Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Respiratory Distress Syndrome? Respiratory distress syndrome (RDS) is a breathing disorder that ... damage. Rate This Content: Next >> January 24, 2012 Respiratory Distress Syndrome Clinical Trials Clinical trials are research ...

459

Anesthesia & Down Syndrome  

MedlinePLUS

... disorders (such as celiac disease and hypothyroidism), diabetes, dementia, depression, epilepsy, hypotonia, obesity and osteoporosis. Some of ... Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down ...

460

Heart and Down Syndrome  

MedlinePLUS

... Series Health Care Associated Conditions ADHD & Down Syndrome Alzheimer's Disease & Down Syndrome Anesthesia & Down Syndrome Atlantoaxial Instability & Down ... End of Life Considerations Emotional & Psychiatric Well-Being Alzheimer's Disease An Introduction to Alzheimer's Disease A Caregiver's Guide ...

461

Fragile X Syndrome  

MedlinePLUS

... Was Just Figuring Out CGG Repeats! | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic ... and generally with greater severity. Features of Fragile X Syndrome in Males Read our Story The majority ...

462

Genetic obesity syndromes.  

PubMed

There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

Goldstone, Anthony P; Beales, Philip L

2008-01-01

463

[Lemierre's syndrome].  

PubMed

Lemierre's syndrome is a rare disease, mostly affecting young adults in good health, which can lead to significant morbidity and mortality. We report one case with favourable outcome and clinical features stereotypics: angina, septic thrombosis of the internal jugular vein, pulmonary septic metastasis, Fusobacterium necrophorum on blood cultures. Antibiotic therapy targeting anaerobes has been rapidly initiated and maintained 4-6 weeks. The anticoagulation has been maintained 4 weeks. PMID:21035996

Courtin, P; Toro, A; Gazagnes, M; Berrouba, A; Gallardo, M; Dembele, A

2010-11-01

464

[Eagle's Syndrome].  

PubMed

Eagle's Syndrome is an entity that is rarely clinically and anatomopathologically identified, and is defined as the elongation of the styloid process and/or the calcification of the styloid ligament. It produces intense pain in the craniocervical region and limitation of cervical movements. It can be mistaken for temporomandibular joint dysfunction. The diagnosis of this entity can be done by physical examination with palpation of the styloid process in the tonsillar fossa, and radiological studies help confirm the diagnosis. PMID:24108342

Balcázar Rincón, Luis Ernesto; Ramírez Alcántara, Yunis Lourdes

2013-01-01

465

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

466

Clues in diagnosing congenital heart disease.  

PubMed Central

A number of practical office and bedside clues to cardiac disease in infants and children have been passed on through the years. They relate to the history, to the inspection and palpation components of the physical examination, and to knowledge of the specific cardiac defects that are likely to be associated with certain clinical syndromes. With the possible exception of coarctation of the aorta, the clues are not diagnostically specific. In many instances, however, they serve to narrow a broad array of diagnostic possibilities to 2 or 3 and, with the aid of other clues and auscultation, they can often be distinguished from one another. When a primary care physician is confronted with a child who has an incidental murmur that is "probably" innocent but could be organic, useful clues favoring an organic murmur are a history of congenital heart disease in a first-degree relative; a history of maternal rubella syndrome, alcohol use, or teratogenic drug use during pregnancy; a history of inappropriate sweating; a history of syncope, chest pain, or squatting; maternal diabetes mellitus; premature birth; birth at a high altitude; cyanosis; abnormal pulsations; recurrent bronchiolitis or pneumonia; chronic unexplained hoarseness; asymmetric facies with crying; and a physical appearance suggestive of a clinical syndrome. PMID:1574882

Moss, A. J.

1992-01-01

467

Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans  

Microsoft Academic Search

Synthesis of glycosaminoglycans (GAGS) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between

Valery Kukharenko; Svetlana Sheleg; Mikhail Freudine; Elena Pichugina; Alexander Delvig

1994-01-01

468

Gitelman syndrome.  

PubMed

Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506

Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

2013-01-01

469

[Crush syndrome].  

PubMed

Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure. PMID:17641588

Scapellato, S; Maria, S; Castorina, G; Sciuto, G

2007-08-01

470

Paraneoplastic syndromes  

SciTech Connect

Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

Weller, R.E.

1986-10-01

471

Mowat-Wilson syndrome  

PubMed Central

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical investigation with intervention of several specialists (including neonatologists and pediatricians). Psychomotor development is delayed in all patients, therefore rehabilitation (physical therapy, psychomotor and speech therapy) should be started as soon as possible. PMID:17958891

Garavelli, Livia; Mainardi, Paola Cerruti

2007-01-01

472

METABOLIC SYNDROME RISK ACROSS WEIGHT STATUS IN MEXICAN AMERICAN CHILDREN  

Technology Transfer Automated Retrieval System (TEKTRAN)

Mexican Americans experience some of the highest rates of type 2 diabetes in this country. With the rising rates of obesity in Mexican American children, these children are also at increased risk for type 2 diabetes, especially when diagnosed with metabolic syndrome. There is not, however, standard ...

473

An XYY chromosome pattern in a boy with Marfan's syndrome  

Microsoft Academic Search

In three siblings (two girls and a boy) we diagnosed the Marfan syndrome. With the girls we could not find any chromosome anomalies. The boy appeared to have 47 chromosomes; his chromosome pattern was interpreted as XYY. There are no indications for a specific clinical picture going with the XYY chromosome pattern.

T. W. J. Hustinx; A. H. F. van Olphen

1964-01-01

474

Neurotrophisches Ulcus des Nasenflügels bei Wallenberg-Syndrom  

Microsoft Academic Search

A 31 years old white female had a dorso-lateral medulla oblongata syndrome. During the course of this disease she developed a complete defect of the right side of the nose, which was covered with a composite graft. Before the diagnose was established, several biopsies were taken suspecting a basalioma.

K. Küpper; G. Thörner

1977-01-01

475

Delayed Diagnosis of Kawasaki Syndrome: An Analysis of the Problem  

Microsoft Academic Search

Objective. Most pediatric providers in Colorado are familiar with Kawasaki syndrome (KS). However, in a recent outbreak, 30% of cases were diag- nosed after illness day 10. We hypothesized that these children saw providers who were not familiar with KS, were given antibiotics for other diagnoses that delayed identification, had access-to-care issues, or presented atypically. Methods. A retrospective chart review

Marsha S. Anderson; James K. Todd; Mary P. Glodé

2005-01-01

476

The Profile and Incidence of Cancer in Down Syndrome  

ERIC Educational Resources Information Center

Background: Down syndrome is one of the commonest causes of intellectual disability. As life expectancy improves with early and more intensive surgical and medical treatments, people with the disorder are more likely to exhibit classic morbidity and mortality patterns and be diagnosed with diseases such as cancer. Methods: A profile of cancer…

Sullivan, S. G.; Hussain, R.; Glasson, E. J.; Bittles, A. H.

2007-01-01

477

Autoimmune Cholangitis: A Variant Syndrome of Autoimmune Hepatitis  

PubMed Central

Autoimmune cholangitis (AIC) or autoimmune cholangiopathy is a chronic inflammation of liver and a variant syndrome of autoimmune hepatitis (AIH). We present a case of an adult female who had biochemical features of cholestasis and transaminasemia but aminotransferases were not in the hepatitis range and had histological evidence of bile duct injury which was subsequently diagnosed as autoimmune cholangitis. PMID:25374727

Sharma, Brij; Raina, Sujeet; Sharma, Rajesh

2014-01-01

478

Ovarian remnant syndrome in a Toy Poodle: a case report.  

PubMed

Ovarian remnant syndrome was diagnosed in a 3-yr-old, female Toy Poodle presented with signs of estrus. The diagnosis was based on the clinical and laboratory changes in response to injection with hCG. The remnant of ovarian tissue was removed surgically under general anesthesia and the animal recovered uneventfully. PMID:16727730

Perkins, N R; Frazer, G S

1995-08-01

479

Ovarian remnant syndrome in a 5-year-old bitch.  

PubMed

A 5-year-old German shepherd bitch was presented with a 3-week history of vaginal bleeding. Ovarian remnant syndrome was diagnosed on vaginoscopy, vaginal cytology, serum progesterone levels, ultrasonography, and exploratory laparotomy. The condition resolved following surgical excision of the remaining ovarian tissue. PMID:15759831

Sangster, Cheryl

2005-01-01

480

Characteristics of CdLS (Cornelia de Lange Syndrome)  

MedlinePLUS

... microcephaly) is a feature commonly associated with the syndrome. Developmental Delays The vast majority of children diagnosed with CdLS are intellectually delayed, with the degree ranging from mild to severe. Learning disabilities and severe language delays are often present. ...

481

Malignant peripheral nerve sheath tumour presenting with Horner's syndrome.  

PubMed

A young male presented with clinical and radiological features of right apical lung mass and Horner's syndrome. Subsequently the patient was diagnosed as a case of malignant peripheral nerve sheath tumour (MPNST) at the apex of right lung originating from an intercostal nerve and compressing ipsilateral cervical sympathetic plexus and lower cord of brachial plexus, in a case of neurofibromatosis type 1. PMID:24772708

Basuthakur, Sumitra; Sengupta, Amitava; Bandyopadhyay, Ankan; Banerjee, Arpita

2013-09-01

482

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease  

Microsoft Academic Search

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated

Hiroyuki Tsuchiya; Kinzi Nagashima; Sumio Kohno

1995-01-01

483

Language Profile of a Child with Landau-Kleffner Syndrome  

ERIC Educational Resources Information Center

We report here a longitudinal study of a 3.8 year old female child diagnosed as having Landau Kleffner Syndrome (LKS). Speech-language analysis was carried out over a two-year period while the child was on medical treatment regime. The result of the language evaluation suggests that this child demonstrated exacerbation and remission in accordance…

Shivashankar, N.; Priya, G. Vishnu; Raksha, H. R.; Ratnavalli, E. R.

2010-01-01

484

The challenges of Proteus syndrome: diagnosis and management  

Microsoft Academic Search

Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth typically occurs in infancy and can involve any tissue of the body. Commonly involved tissues include connective tissue and bone, skin, central nervous system, the eye, but it apparently can affect any tissue. Diagnosing of PS is difficult and the diagnostic

Leslie Biesecker

2006-01-01

485

Severe Fever with Thrombocytopenia Syndrome Virus, South Korea, 2013  

PubMed Central

During 2013, severe fever with thrombocytopenia syndrome was diagnosed in 35 persons in South Korea. Environmental temperature probably affected the monthly and regional distribution of case-patients within the country. Phylogenetic analysis indicated that the isolates from Korea were closely related to isolates from China and Japan. PMID:25341085

Park, Sun-Whan; Han, Myung-Guk; Yun, Seok-Min; Park, Chan; Lee, Won-Ja

2014-01-01

486

Overlap of Guillain-Barré syndrome and Bickerstaff's brainstem encephalitis  

Microsoft Academic Search

The nosological relationship between Bickerstaff's brainstem encephalitis (BBE) and Guilllain-Barré syndrome (GBS) has yet to be clarified. We report results of the autopsy of a patient for whom overlapping BBE and GBS was diagnosed clinically. This and similar cases support the original authors' hypothesis that BBE is closely related to GBS. © 1997 Elsevier Science B.V.

Nobuhiro Yuki; Koichi Wakabayashi; Mitsunori Yamada; Koji Seki

1997-01-01

487

Fibromyalgia Syndrome Symptoms and Effects: A Cross-Sectional Study.  

ERIC Educational Resources Information Center

Surveyed fibromyalgia syndrome support group members about characteristics of the disease and how it affected their lives. Respondents had symptoms for many years before being diagnosed. Symptoms varied tremendously on a daily and yearly basis, so disease management was in a constant state of flux. Most symptoms significantly impacted quality of…

Prince, Alice; Bernard, Amy L.; Edsall, Patricia A.

2000-01-01

488

Prenatal Diagnosis of the Fetus with Hypoplastic Left Heart Syndrome  

Microsoft Academic Search

Objectives: To review our 13-year experience with prenatally detected hypoplastic left heart syndrome (HLHS) of which management remains controversial. Material and Methods: Retrospective study of the management and outcome in all cases of HLHS diagnosed prenatally in a tertiary referral center for pediatric cardiology and cardiac surgery between January 1988 and July 2001. Results: The diagnosis of HLHS was made

Paul M. Verheijen; Lukas A. Lisowski; Rutger F. Plantinga; J. François Hitchcock; Ger B. W. E. Bennink; Philip Stoutenbeek; Erik J. Meijboom

2003-01-01

489

Murine typhus associated with Parinaud's oculoglandular syndrome in 2 children.  

PubMed

An 11-year-old-girl and a 13-year-old-boy presented with characteristic findings of Parinaud's oculoglandular syndrome. The girl was initially suspected of having Bartonella henselae infection and the boy was initially diagnosed as Francisella tularensis infection. Both children had laboratory-confirmed infection with Rickettsia typhi. PMID:24853542

Shukla, Khushbu; Fergie, Jaime

2014-11-01

490

Fetal Alcohol Syndrome: Diagnostic Features and Psychoeducational Risk Factors  

Microsoft Academic Search

Studied intrauterine exposure to alcohol, which has been associated with a variety of negative outcomes referred to as Fetal Alcohol Syndrome (FAS) or Fetal Alcohol Effects (FAE). Children diagnosed with FAS or FAE frequently exhibit cognitive deficits, academic difficulties, and psychosocial behavioral problems that persist into adulthood. FAS is now accepted as the leading known cause of mental retardation in

LeAdelle Phelps; Jo-Anne Grabowski

1992-01-01

491

Physician and Allied Health Professionals' Training and Fetal Alcohol Syndrome  

Microsoft Academic Search

Maternal prenatal alcohol use is one of the leading preventable causes of birth defects and developmental disabilities. On the severe end of the spectrum of conditions related to drink- ing during pregnancy is fetal alcohol syndrome (FAS). Physicians and other health practi- tioners play a critical role in diagnosing FAS and in screening women of childbearing age for alcohol use

TANYA T. SHARPE; MARTHA ALEXANDER; JOHNNI HUTCHERSON; R. LOUISE FLOYD; MICHAEL BRIMACOMBE; ROBERT LEVINE; MARK MENGEL; MARGARET STUBER

492

Diagnostic Approach of Angelman Syndrome  

PubMed Central

ABSTRACT Background: Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder. It is caused by a variety of genetic mechanisms which all interfere with expression of the UBE3A gene on chromosome 15q11-13. Objectives: To present our experience regarding diagnosis of children with Angelman syndrome. Material and methods: 15 children were clinically and genetically diagnosed with AS in the Department of Pediatric Neurology of the "Prof. Dr. Alex. Obregia" Clinical Hospital. In all cases, diagnosis of AS was made by the clinical criteria. The clinical evaluation focused on the patient history, a general examination, dysmorphological evaluation, a neurological examination, psychological evaluation, and paraclinical tests. Results: All patients from this study presented the characteristic facial features and the characteristic behavior phenotype. Psychomotor development was delayed in all children, most of cases (73%) presenting with sever mental retardation. Epileptic seizures were observed in all patients with microdeletion, the partial seizures being the most frequent type. EEG in all children showed the characteristic pattern for AS. Conclusions: Angelman syndrome is a rare and severe neurodevelopmental disorder, with a complex clinical picture. There are some characteristic facial features, which, in association with hypopigmentation, happy disposition, jerky movements, and ataxia in a child with psychomotor delay should raise the strong suspicion of AS. PMID:24790661

DUCA, Denis George; CRAIU, Dana; BOER, Monica; CHIRIEAC, Sorina Mihaela; ARGHIR, Aurora; TUTULAN-CUNITA, Andreea; BARCA, Diana; ILIESCU, Catrinel; LUNGEANU, Agripina; MAGUREANU, Sanda; BUDISTEANU, Magdalena

2013-01-01

493

[Contemporary dietotherapy of the irritable bowel syndrome].  

PubMed

Irritable bowel syndrome (IBS) is the most prevalent functional disease of the gastrointestinal tract. This highly prevalent condition is best diagnosed by assessing the constellation of symptoms with which patients present to their physicians. Because some critics have previously questioned whether irritable bowel syndrome and other functional gastrointestinal disorders truly exist because they do not have defining structural features, the Rome Foundation fostered the use of symptom-based criteria for universal use. In most cases treatment is reduced to symptomatic therapy because a lot of unknown in pathogenesis by irritable bowel syndrome. Irritable bowel syndrome leads to decrease of quality of life of the patients and could be one of the reasons of patients' disability. Food is believed by patients promotes symptoms and the diet or avoiding specific food can reduce symptoms. Possible role of different food and microbiota in the pathophysiology of irritable bowel syndrome, as well as the data from randomized, controlled clinical trials dedicated to the effects of diet in irritable bowel syndrome are summarized and discussed in this review. The efficacy of the diet, enriched by fiber, prebiotics, probiotics, peppermint oil, curcumin and vitamin B6 in irritable bowel syndrome patients was shown in numerous studies. In some studies restriction in consumption of fermented carbohydrates, coffee and alcohol, as well as diet with elimination IgG-sensed food was also shown to be effective in irritable bowel syndrome. Food intolerances, defined as non-toxic non-immune adverse reactions to food, include reactions to bioactive chemicals in foods and metabolic reactions to poorly absorbed dietary carbohydrates. New dietary approaches like polyunsaturated fatty acids intake correction and the low tryptophan intake are discussed. PMID:23808281

Pilipenko, V I; Burliaeva, E A; Isakov, V A

2013-01-01

494

Anal melanosis diagnosed by reflectance confocal microscopy.  

PubMed

Until now, in vivo reflectance-mode confocal microscopy (IVCM) has been applied only to pigmented lesions of the vulvar and oral mucosa, but not to anal mucosa lesions. We present the first case in which IVCM has been used to diagnose anal melanosis. Clinical and dermoscopic features were of concern while IVCM found the draped pattern already described for genital melanosis. IVCM adds information to the clinical and dermatoscopic examination and allows skin biopsies to be avoided. Further studies are needed to define the IVCM features of anal melanosis and to compare the performance of IVCM with the findings of histological examinations. PMID:24004266

Cinotti, Elisa; Chol, Christelle; Perrot, Jean Luc; Labeille, Bruno; Forest, Fabien; Cambazard, Frédéric

2014-11-01

495

A clinical observation to diagnose parotid hemangioma.  

PubMed

A clinical observation to diagnose parotid hemangioma is presented in this article. A hemangioma can be made to distend by blocking its venous outflow. If a distended hemangioma is located within the parotid gland, it stretches the parotid capsule. Thus application of pressure over parotid venous outflow causes the hemangioma to bulge, thereby stretching the parotid capsule. It makes the outline of the gland clinically apparent. This observation is useful to differentiate a hemangioma present in the parotid gland from one that is placed outside the gland like an intramuscular hemangioma of the masseter muscle or internal jugular phlebectasia. PMID:24426629

Reddi, Bhavani Rao

2013-06-01

496

Aortoduodenal syndrome in a patient receiving maintenance haemodialysis.  

PubMed

An 83-year-old man receiving maintenance haemodialysis presented with abdominal pain, fever and emesis. He was initially diagnosed with acute cholecystitis. His pain and fever improved with fasting and antibiotics, but he continued to suffer from anorexia and emesis. Enhanced abdominal CT scan showed evidence of superior mesenteric artery (SMA) syndrome versus obstruction of the third part of the duodenum caused by abdominal aortic aneurysm (AAA), the so-called aortoduodenal syndrome. An upper gastrointestinal contrast study revealed duodenal dilation and blockage of the third part of the duodenum. The AAA continued to enlarge over the subsequent 3 months and the intra-abdominal visceral fat volume decreased over 1 month. The aortomesentric angle and distance remained within normal ranges. Ultimately, the patient was diagnosed with aortoduodenal syndrome. In the present case, a duodenal obstruction was caused by the combination of an enlarged AAA and reduced intra-abdominal visceral fat in a patient receiving maintenance haemodialysis. PMID:25388892

Saigusa, Susumu; Ohi, Masaki; Imaoka, Hiroki; Inoue, Yasuhiro

2014-01-01