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Sample records for bardet-biedl syndrome detection

  1. Nephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report

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    Meral Torun Bayram

    2014-04-01

    Full Text Available Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet-Biedl syndrome.

  2. Visual acuity and retinal function in patients with Bardet-Biedl syndrome

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    Adriana Berezovsky

    2012-01-01

    Full Text Available OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7 was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%, 20/50-20/150 in 13 (56.5% patients, 20/200-20/400 in 2 (8.7% patients and worse than 20/400 in one (4.3% patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent. Scotopic rod and maximal responses were nondetectable in 21 (91.3% patients, and cone responses were non-detectable in 15 (65.2% patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6% patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.

  3. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

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    Hjortshøj, T Duelund; Grønskov, K; Brøndum-Nielsen, K;

    2009-01-01

    Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found....

  4. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

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    Agha, Z.; Iqbal, Z.; Azam, M.; Hoefsloot, L.H.; Bokhoven, J.H.L.M. van; Qamar, R.

    2013-01-01

    Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there

  5. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

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    Redin, Claire; Le Gras, Stéphanie; Mhamdi, Oussema; Geoffroy, Véronique; Stoetzel, Corinne; Vincent, Marie-Claire; Chiurazzi, Pietro; Lacombe, Didier; Ouertani, Ines; Petit, Florence; Till, Marianne; Verloes, Alain; Jost, Bernard; Chaabouni, Habiba Bouhamed; Dollfus, Helene; Mandel, Jean-Louis; Muller, Jean

    2012-01-01

    Background Bardet-Biedl syndrome (BBS) is a pleiotropic recessive disorder that belongs to the rapidly growing family of ciliopathies. It shares phenotypic traits with other ciliopathies, such as Alström syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome. BBS mutations have been detected in 16 different genes (BBS1-BBS16) without clear genotype-to-phenotype correlation. This extensive genetic heterogeneity is a major concern for molecular diagnosis and genetic counselling. While various strategies have been recently proposed to optimise mutation detection, they either fail to detect mutations in a majority of patients or are time consuming and costly. Method We tested a targeted exon-capture strategy coupled with multiplexing and high-throughput sequencing on 52 patients: 14 with known mutations as proof-of-principle and 38 with no previously detected mutation. Thirty genes were targeted in total including the 16 BBS genes, the 12 known NPHP genes, the single ALMS gene ALMS1 and the proposed modifier CCDC28B. Results This strategy allowed the reliable detection of causative mutations (including homozygous/heterozygous exon deletions) in 68% of BBS patients without previous molecular diagnosis and in all proof-of-principle samples. Three probands carried homozygous truncating mutations in ALMS1 confirming the major phenotypic overlap between both disorders. The efficiency of detecting mutations in patients was positively correlated with their compliance with the classical BBS phenotype (mutations were identified in 81% of ‘classical’ BBS patients) suggesting that only a few true BBS genes remain to be identified. We illustrate some interpretation problems encountered due to the multiplicity of identified variants. Conclusion This strategy is highly efficient and cost effective for diseases with high genetic heterogeneity, and guarantees a quality of coverage in coding sequences of target genes suited for diagnosis purposes. PMID:22773737

  6. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

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    Ajmal, M.; Khan, M.I.; Neveling, K.; Tayyab, A.; Jaffar, S.; Sadeque, A.; Ayub, H.; Abbasi, N.M.; Riaz, M.; Micheal, S.; Gilissen, C.F.H.A.; Ali, S.H.; Azam, M.; Collin, R.W.J.; Cremers, F.P.M.; Qamar, R.

    2013-01-01

    PURPOSE: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal pr

  7. A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.

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    Saida, Ken; Inaba, Yuji; Hirano, Makito; Satake, Wataru; Toda, Tatsushi; Suzuki, Yutaka; Sudo, Asuka; Noda, Shunsuke; Hidaka, Yoshihiko; Hirabayashi, Kazutaka; Imai, Hiroki; Kurokawa, Toru; Koike, Kenichi

    2014-09-01

    Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300 mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment. PMID:24290075

  8. Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome

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    Brinckman, Danielle D.; Keppler-Noreuil, Kim M.; Blumhorst, Catherine; Leslie G Biesecker; Sapp, Julie C; Johnston, Jennifer J; Wiggs, Edythe A

    2013-01-01

    Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smel...

  9. Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

    OpenAIRE

    Hamlington, Barbara; Lauren E Ivey; Brenna, Ethan; Biesecker, Leslie G.; Biesecker, Barbara B.; Sapp, Julie C

    2015-01-01

    Background A child’s obesity is generally perceived by the public to be under the control of the child’s parents. While the health consequences of childhood obesity are well understood, less is known about psychological and social effects of having an obese child on parents. We set out to characterize stigma and courtesy stigma experiences surrounding obesity among children with Bardet-Biedl syndrome (BBS), a multisystem genetic disorder, and their parents. Methods Twenty-eight parents of chi...

  10. A RARE ASSOCIATION OF BARDET BIEDL SYNDROME WITH VERTICAL ORBITAL DYSTOPIA AND SITUS INVERSUS WITH DEXTROCARDIA

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    Naidu

    2015-02-01

    Full Text Available Bardet Biedl syndrome includes presence of retinitis pimentosa along with obesity, polydactyl, hypogonadism, renal deformities,and learning disabilities. Orbital dystopia is any type of abnormal displacement of the entire orbital cones and their contents that can occur in three different dimensional planes. Situs describes the anatomic position of cardiac atria and visera. Situs solitus is normal anatomic position and situs inversus is the mirror image of the situs solitus. We report a case of a 13 year old male whom we diagnosed as a case of BBS with rare association with vertical orbital dystopia and situs inversus with dextrocardia

  11. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.

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    Braun, J-J; Noblet, V; Durand, M; Scheidecker, S; Zinetti-Bertschy, A; Foucher, J; Marion, V; Muller, J; Riehm, S; Dollfus, H; Kremer, S

    2014-12-01

    Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in BBS patients. Moreover, morphological brain anomalies have been reported and prompt for further investigations to determine whether they are primary or secondary to peripheral organ involvement (i.e. visual or olfactory neuronal tissue). The objective of this article is to evaluate olfactory disorders in BBS patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 BBS patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (UPSIT). All of them underwent a structural magnetic resonance imaging (MRI) scan. We first investigated brain morphological differences between BBS subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in BBS patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas.

  12. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

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    Ross, Alison J; May-Simera, Helen; Eichers, Erica R; Kai, Masatake; Hill, Josephine; Jagger, Daniel J; Leitch, Carmen C; Chapple, J Paul; Munro, Peter M; Fisher, Shannon; Tan, Perciliz L; Phillips, Helen M; Leroux, Michel R; Henderson, Deborah J; Murdoch, Jennifer N; Copp, Andrew J; Eliot, Marie-Madeleine; Lupski, James R; Kemp, David T; Dollfus, Hélène; Tada, Masazumi; Katsanis, Nicholas; Forge, Andrew; Beales, Philip L

    2005-10-01

    The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes.

  13. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

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    Marion, Vincent; Stoetzel, Corinne; Schlicht, Dominique; Messaddeq, Nadia; Koch, Michael; Flori, Elisabeth; Danse, Jean Marc; Mandel, Jean-Louis; Dollfus, Hélène

    2009-02-10

    Bardet-Biedl syndrome (BBS) is an inherited ciliopathy generally associated with severe obesity, but the underlying mechanism remains hypothetical and is generally proposed to be of neuroendocrine origin. In this study, we show that while the proliferating preadipocytes or mature adipocytes are nonciliated in culture, a typical primary cilium is present in differentiating preadipocytes. This transient cilium carries receptors for Wnt and Hedgehog pathways, linking this organelle to previously described regulatory pathways of adipogenesis. We also show that the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome proliferator-activated receptor nuclear accumulation, hence favoring adipogenesis. Moreover, adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS. PMID:19190184

  14. Bardet-biedl syndrome in a child with chronic kidney disease

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    Valavi Ehsan

    2009-01-01

    Full Text Available A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient′s history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retar-dation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS. The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.

  15. Bardet-biedl syndrome in a child with chronic kidney disease

    International Nuclear Information System (INIS)

    A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retardation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS). The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis. (author)

  16. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

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    Carmi, R.; Elbedour, K. [Ben-Gurion Univ., Beer-Sheva (Israel); Stone, E.M.; Sheffield, V.C. [Univ. of Iowa, IA (United States)

    1995-11-06

    Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients form 3 unrelated, extended Arab-Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the {open_quotes}leanest{close_quotes} form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and the identification of human obesity-related genes. 22 refs., 1 fig., 4 tabs.

  17. Mapping of Genes Involved in Bardet-Biedl Syndrome (BBS in Pakistani Population

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    Shiraz Ahmad

    2012-07-01

    Full Text Available Bardet-Biedl Syndrome (BBS, one of an autosomal recessive or clinically and genetically heterogeneous disorder, which prevails all over the world and results due to increased rate of consanguinity. All of these BBS genes are involved either directly or indirectly in signaling pathways such as Leptin receptor signaling pathway and Wnt signaling pathway. The study presented here includes genetic mapping of two consanguineous families (A & B with BBS. (21.63-Mb region was found to be critical as it was gene rich and contains approximately eighty known and predicted genes. Out of eighty genes six (FGF2, BBS7, BBS12, NUDT6, SPATA5 and SPRY1 were found to be candidate genes. On mutations screening, sequencing of the coding exon 2 of BBS12 in affected individuals identified a novel homozygous c.2103C 1 A mutation, which is predicted to insert a stop codon at position 701 of the BBS12 protein (p.S701X. Identification of BBS12 mutation in families B can increase our understanding of molecular genetics and pathophysiology of BBS.

  18. Clinical analysis of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang%南疆首例维吾尔族 Bardet-Biedl 综合征患儿诊治分析

    Institute of Scientific and Technical Information of China (English)

    伊鹏; 刘虹; 买合木提江买买提; 赛排尔江艾尼; 牛会林

    2014-01-01

    Objective To investigate the clinical characteristics of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang,and summarize the experiences on diagnosis and therapy. Methods The data on medical history,physical examination,laboratory examination and imaging examination were collected.Department of pediatrics,orthopedics,anesthesiol-ogy,ophthalmology,stomatology and radiology all took part in the consultation. Results After multi-discipline consultation, the child was proved to be suffered with bronchopneumonia,obesity,mental retardation,absence of 1 2,22,32,42 incisors,DⅠdeciduous tooth retention,Polydactyly (six fingers)of both hands and feet,microcaulia,night blindness,retinitis pigmento-sa,and high myopia. Conclusion Based on the history and clinical presentation,the child was diagnosed with Bardet-Biedl syndrome.After retrieving literature database in English and Chinese,we found out that there is no report on Bardet-Biedl syn-drome in southern Xinjiang previously.Thus,we report the first Uyghur case of Bardet-Biedl syndrome in this area.Nowadays, there is no method to cure this disease totally,and symptomatic treatment could improve the patient's living condition partially.%目的:调查分析南疆首例维吾尔族 Bardet-Biedl 综合征患儿的临床特点,总结诊治经验。方法对患儿进行病史采集,体格检查,实验室检查,影像学检查等,请儿科,骨外科,麻醉科,眼科,口腔科,放射科等多学科联合会诊以协助诊断。结果多科会诊后确定患儿存在支气管肺炎,肥胖,智力低下,12,22,32,42切牙缺失,DⅠ乳牙滞留,双手6指畸形,双足6趾畸形,阴茎短小,夜盲,视网膜色素变性,高度近视等问题。结论患儿确诊为 Bardet-Biedl 综合征,检索中外文文献,南疆地区未见本病的报道。我们首次在南疆地区报道了罕见的 Bar-det-Biedl 综合征患儿。目前该病尚无根治方法,主要给以

  19. Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

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    Brinckman, Danielle D; Keppler-Noreuil, Kim M; Blumhorst, Catherine; Biesecker, Leslie G; Sapp, Julie C; Johnston, Jennifer J; Wiggs, Edythe A

    2013-12-01

    Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory, and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smell Identification Test, Social Communication Questionnaire, Social Responsiveness Scale, and Behavior Assessment System for Children, Second Edition, Parent Rating Scale. On the age appropriate Wechsler scale, the mean Verbal Comprehension was 81 (n = 36), Working Memory was 81 (n = 36), Perceptual Reasoning was 78 (n = 24) and Full Scale IQ was 75 (n = 26). Memory for a word list (Rey Auditory Verbal Learning Test) was in the average range with a mean of 89 (n = 19). Fine motor speed was slow on the Purdue with mean scores 3-4 standard deviations below norms. All subjects were microsmic on the University of Pennsylvania Smell Identification Test. Of these 42 patients, only 6 were able to complete all auditory and visual tests; 52% were unable to complete the visual tests due to impaired vision. A wide range of behavioral issues were endorsed on questionnaires given to parents. Most had social skill deficits but no pattern of either externalizing or internalizing problems. We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction. PMID:24194441

  20. Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants.

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    Brian H Lee

    2011-12-01

    Full Text Available Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays. Disruptions of BBS proteins in a variety of organisms impair cilia formation and function and the multi-organ defects of BBS have been attributed to deficiencies in various cilia-associated signaling pathways. In C. elegans, bbs genes are expressed exclusively in the sixty ciliated sensory neurons of these animals and bbs mutants exhibit sensory defects as well as body size, feeding, and metabolic abnormalities. Here we show that in contrast to many other cilia-defective mutants, C. elegans bbs mutants exhibit increased release of dense-core vesicles and organism-wide phenotypes associated with enhanced activities of insulin, neuropeptide, and biogenic amine signaling pathways. We show that the altered body size, feeding, and metabolic abnormalities of bbs mutants can be corrected to wild-type levels by abrogating the enhanced secretion of dense-core vesicles without concomitant correction of ciliary defects. These findings expand the role of BBS proteins to the regulation of dense-core-vesicle exocytosis and suggest that some features of Bardet-Biedl Syndrome may be caused by excessive neuroendocrine secretion.

  1. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome

    Institute of Scientific and Technical Information of China (English)

    Li Qian; Zhang Yongpeng; Jia Liyun; Peng Xiaoyan

    2014-01-01

    Background Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disease,and information about BBS in Chinese populations is very limited.The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family.Methods Clinical data were recorded for the 4-year-old female proband and the available family members.The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12).The variants detected in the proband were further confirmed in the other family members.Results We identified a novel homozygous nonsense mutation (c.70A>T,p.K24X) in the BBS4 gene exon 2 in the proband.Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein,and probably induced the nonsense-mediated decay of BBS4 messenger RNAs.The proband's parents and brother were heterozygous for the nonsense mutant allele.It was absent in 50 Chinese control subjects.An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband,her father and her brother.Some manifestations of the proband including atypical retinitis pigmentosa,choroidal sclerosis,high myopia,and early onset of obesity might be associated with this mutation in BBS4 gene.The proband's father also reported surgical removal of an extra finger during childhood.Conclusions The present study described a novel nonsense mutation in BBS4 gene in a Chinese family.This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein.We also detected a rare heterozygous missense SNP in BBS10 gene in the family,but did not find sufficient evidence to support the triallelic inheritance.

  2. A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5 Protein that Is Selectively Expressed in Retina.

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    Susan N Bolch

    Full Text Available Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome 5 (BBS5 protein. BBS5 is one component of the BBSome, a complex of proteins that regulates the protein composition in cilia. In this study, we identify a smaller molecular mass form of BBS5 as a variant formed by alternative splicing and show that expression of this splice variant is restricted to the retina.Reverse transcription PCR from RNA was used to isolate and identify potential alternative transcripts of Bbs5. A peptide unique to the C-terminus of the BBS5 splice variant was synthesized and used to prepare antibodies that selectively recognized the BBS5 splice variant. These antibodies were used on immunoblots of tissue extracts to determine the extent of expression of the alternative transcript and on tissue slices to determine the localization of expressed protein. Pull-down of fluorescently labeled arrestin1 by immunoprecipitation of the BBS5 splice variant was performed to assess functional interaction between the two proteins.PCR from mouse retinal cDNA using Bbs5-specific primers amplified a unique cDNA that was shown to be a splice variant of BBS5 resulting from the use of cryptic splicing sites in Intron 7. The resulting transcript codes for a truncated form of the BBS5 protein with a unique 24 amino acid C-terminus, and predicted 26.5 kD molecular mass. PCR screening of RNA isolated from various ciliated tissues and immunoblots of protein extracts from these same tissues showed that this splice variant was expressed in retina, but not brain, heart, kidney, or testes. Quantitative PCR showed that the splice variant transcript is 8.9-fold (+/- 1.1-fold less abundant than the full-length transcript. In the retina, the splice variant of BBS5 appears to be most abundant in the connecting cilium

  3. Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

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    Braun, J J; Noblet, V; Kremer, S; Molière, S; Dollfus, H; Marion, V; Goetz, N; Muller, J; Riehm, S

    2016-07-01

    Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet-Biedl syndrome (BBS) patients and is rarely objectively evaluated by MRI. We present a series of 20 BBS patients with olfactory dysfunction. The OB was evaluated separately and blindly by two radiologists (SR and SM) with 3 Tesla MRI imaging comparatively to 12 normal control subjects by global visual evaluation and by quantitative measurement of OB volume. In the 12 control cases OB visual evaluation was considered as normal in all cases for radiologist (SR) and in 10 cases for radiologist (SM). In the 20 BBS patients, OB visual evaluation was considered as abnormal in 18 cases for SR and in all cases for SM. OB volumetric evaluation for SR and SM in BBS patients was able to provide significant correlation between BBS and olfactory dysfunction. This study indicates that OB volume evaluation by MRI imaging like structural MRI scan for gray matter modifications demonstrates that olfactory dysfunction in BBS patients is a constant and cardinal symptom integrated in a genetical syndrome with peripheral and central olfactory structure alterations. PMID:26586152

  4. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

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    Muller, Jean; Stoetzel, C; Vincent, M C; Leitch, C C; Laurier, V; Danse, J M; Hellé, S; Marion, V; Bennouna-Greene, V; Vicaire, S; Megarbane, A; Kaplan, J; Drouin-Garraud, V; Hamdani, M; Sigaudy, S; Francannet, C; Roume, J; Bitoun, P; Goldenberg, A; Philip, N; Odent, S; Green, J; Cossée, M; Davis, E E; Katsanis, N; Bonneau, D; Verloes, A; Poch, O; Mandel, J L; Dollfus, H

    2010-03-01

    Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small subsets of the known BBS genes. Here we report extensive analysis of a cohort of 174 BBS families for 12/14 genes, leading to the identification of 28 novel mutations. Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R). We confirm that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12. No mutations have been found in BBS11/TRIM32, the identification of which as a BBS gene only relies on a single missense mutation in a single consanguineous family. While a third variant allele has been observed in a few families, they are in most cases missenses of uncertain pathogenicity, contrasting with the type of mutations observed as two alleles in a single gene. We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations. PMID:20177705

  5. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS

    Directory of Open Access Journals (Sweden)

    Johnston Jennifer

    2011-07-01

    Full Text Available Abstract Background Bardet-Biedl syndrome (BBS is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and behavioural problems. BBS mouse models have a neuroanatomical phenotype consisting of third and lateral ventriculomegaly, thinning of the cerebral cortex, and reduction in the size of the corpus striatum and hippocampus. These abnormalities raise the question of whether humans with BBS have a characteristic morphologic brain phenotype. Further, although behavioral, developmental, neurological and motor defects have been noted in patients with BBS, to date, there are limited reports of brain findings in BBS. The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems. Methods A case-control study of 21 patients, most aged 13-35 years, except for 2 patients aged 4 and 8 years, who were diagnosed with BBS by clinical criteria and genetic analysis of known BBS genes, and were evaluated by qualitative and volumetric brain MRI scans. Healthy controls were matched 3:1 by age, sex and race. Statistical analysis was performed using SAS language with SAS STAT procedures. Results All 21 patients with BBS were found to have statistically significant region- and tissue-specific patterns of brain abnormalities. There was 1 normal intracranial volume; 2 reduced white matter in all regions of the brain, but most in the occipital region; 3 preserved gray matter volume, with increased cerebral cortex volume in only the occipital lobe; 4 reduced gray matter in the subcortical regions of the brain, including the caudate, putamen and thalamus, but not in the cerebellum; and 5 increased cerebrospinal fluid volume. Conclusions There are distinct and characteristic abnormalities in tissue- and region- specific volumes

  6. 巴德-毕氏综合征研究的现状及意义%Current status and implication of research on Bardet-Biedl syndrome

    Institute of Scientific and Technical Information of China (English)

    沈涛; 严新民; 肖春杰

    2013-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s.BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy,obesity,polydactyly,renal malformations and functional abnormalities,learning disabilities and hypogenitalism.BBS patients are also prone to diabetes mellitus,hypertension and congenital heart disease.To date,16 BBS genes (BBS1-BBS16)have been identified.However,the molecular etiology of BBS is not yet entirely clear.In this article,we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.%巴德-毕氏综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性遗传疾病,由Bardet 和Biedl在1920年首次报道.BBS具有高度的遗传异质性,其临床症状包括视网膜营养不良、肥胖、多指/趾、肾畸形或肾功异常、学习障碍及性腺发育不全等.BBS患者常伴糖尿病、高血压及先心病等继发症状.迄今已发现16个BBS基因(BBS1~BBS16)异常可以导致BBS表型,但其分子致病机制仍不完全清楚.

  7. Bardet-Biedl Syndrome

    Science.gov (United States)

    ... Honor a Loved One Monthly Giving Employee Matching Workplace Giving Remember FFB in Your Will or Estate ... have small genitalia (testes and penis). Because female sexual organ size is more ... aids and orientation as well as from mobility training. Researchers have ...

  8. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

    Science.gov (United States)

    Laurier, Virginie; Stoetzel, Corinne; Muller, Jean; Thibault, Christelle; Corbani, Sandra; Jalkh, Nadine; Salem, Nabiha; Chouery, Eliane; Poch, Olivier; Licaire, Serge; Danse, Jean-Marc; Amati-Bonneau, Patricia; Bonneau, Dominique; Mégarbané, André; Mandel, Jean-Louis; Dollfus, Hélène

    2006-11-01

    The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account cumulatively for about 50% of patients. The BBS genes appear implicated in cilia and basal body assembly or function. In order to find new BBS genes, we performed SNP homozygosity mapping analysis in an extended consanguineous family living in a small Lebanese village. This uncovered an unexpectedly complex pattern of mutations, and led us to identify a novel BBS gene (BBS10). In one sibship of the pedigree, a BBS2 homozygous mutation was identified, while in three other sibships, a homozygous missense mutation was identified in a gene encoding a vertebrate-specific chaperonine-like protein (BBS10). The single patient in the last sibship was a compound heterozygote for the above BBS10 mutation and another one in the same gene. Although triallelism (three deleterious alleles in the same patient) has been described in some BBS families, we have to date no evidence that this is the case in the present family. The analysis of this family challenged linkage analysis based on the expectation of a single locus and mutation. The very high informativeness of SNP arrays was instrumental in elucidating this case, which illustrates possible pitfalls of homozygosity mapping in extended families, and that can be explained by the rather high prevalence of heterozygous carriers of BBS mutations (estimated at one in 50 in Europeans). PMID:16823392

  9. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

    Science.gov (United States)

    Stoetzel, Corinne; Muller, Jean; Laurier, Virginie; Davis, Erica E; Zaghloul, Norann A; Vicaire, Serge; Jacquelin, Cecile; Plewniak, Frederic; Leitch, Carmen C; Sarda, Pierre; Hamel, Christian; de Ravel, Thomy J L; Lewis, Richard Alan; Friederich, Evelyne; Thibault, Christelle; Danse, Jean-Marc; Verloes, Alain; Bonneau, Dominique; Katsanis, Nicholas; Poch, Olivier; Mandel, Jean-Louis; Dollfus, Helene

    2007-01-01

    Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for approximately 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily. These three genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome, and together they account for about one-third of the total BBS mutational load. Consistent with this notion, suppression of each family member in zebrafish yielded gastrulation-movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all three members resulted in severely affected embryos, possibly hinting at partial functional redundancy within this protein family. PMID:17160889

  10. Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients

    Directory of Open Access Journals (Sweden)

    Ugur Halac

    2012-01-01

    Full Text Available Bardet-Biedel syndrome (BBS is a rare autosomal recessive, genetically heterogeneous ciliopathy. Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders. Our objective was to describe a 14-year-old patient with BBS who presented with Crohn disease (CD, primary sclerosing cholangitis (PSC, and thyroiditis in the context of a cohort review at Sainte-Justine Hospital and to alert clinicians to the increased risk of autoimmune disorders in these patients. The cohort contained fifteen patients (9 boys, followed from 1968 to 2009 during a median period of 12 years (range 9 months–26 years. Three of the 15 patients (20% developed a chronic autoimmune disease: one had juvenile rheumatoid arthritis; a second one had type 1 diabetes mellitus in association with Hashimoto thyroiditis and psoriasis; a third one developed CD, PSC, and Hashimoto thyroiditis. As chronic autoimmune diseases occurred in 20% of our cohort of children with BBS, it is appropriate to keep this association in mind during the followup.

  11. Genetics Home Reference: Bardet-Biedl syndrome

    Science.gov (United States)

    ... vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet- ... result from mutations in at least 14 different genes (often called BBS genes). These genes are known ...

  12. Genetic and bibliographic information: BBS5 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available BBS5 Bardet-Biedl syndrome 5 human Bardet-Biedl Syndrome (MeSH) Nervous System Dise...s (C10.228.140.617) > Bardet-Biedl Syndrome (C10.228.140.617.200) Congenital, Hereditary, and Neonatal Disea... Multiple (C16.131.077) > Bardet-Biedl Syndrome (C16.131.077.112) 99A0284114 ...

  13. Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

    Directory of Open Access Journals (Sweden)

    M. Cristina Digilio

    2011-07-01

    Full Text Available Atrioventricular canal defect (AVCD is a common congenital heart defect (CHD, representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes. The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders

  14. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome.

    Science.gov (United States)

    Sharda, Sheetal; Panigrahi, Inusha; Marwaha, Ram Kumar

    2011-01-01

    There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  15. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

    Directory of Open Access Journals (Sweden)

    Sheetal Sharda

    2011-01-01

    Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  16. Genetic and bibliographic information: ARL6 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available ARL6 ADP-ribosylation factor-like 6 human Bardet-Biedl Syndrome (MeSH) Nervous Syst...Diseases (C10.228.140.617) > Bardet-Biedl Syndrome (C10.228.140.617.200) Congenital, Hereditary, and Neonata...lities, Multiple (C16.131.077) > Bardet-Biedl Syndrome (C16.131.077.112) 99A0284114 ...

  17. The meta - analysis of Laurance - Moon - Bardet - Biedl syndrome%多指(趾)-肥胖-肾-眼综合征2例并文献复习分析

    Institute of Scientific and Technical Information of China (English)

    杨毅华; 倪伟锋; 陈慎仁; 杨贤明

    2006-01-01

    目的总结Laurance-Moon-Bardet-Biedl综合征(LMBBS)(多指-肥胖-肾-眼综合征)的发病情况及临床表现,并与国外文献报道进行比较.以提高临床医生对该综合征的认识.方法对1987-2003年对汕头大学医学院附属第二医院的2例LMBBS报告,以及国外462例、国内94例文献,进行分析.结果LMBBS有较高的血缘率及阳性家族史,视网膜色素变性、智力低下、肥胖、性发育不良和多指(趾)畸形五大主症,临床表现复杂多变.结论应避免近亲结婚.国外新近提出的诊断标准及调查方法,有利于患者儿童期的早期诊断.

  18. Disease: H00910 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available denburg syndrome [DS:H00759] Mowat-Wilson syndrome [DS:H...Following syndromes are Hirschsprung-like phenotypes. Bardet-Biedl syndrome [DS:H00418] Shprintzen-Goldberg syndrome [DS:H00659] Waar

  19. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    Science.gov (United States)

    2016-08-23

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  20. Disease: H00418 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ion. BBS is typified by clinical variability observed both within and between families... C, Nishimura D New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: dete

  1. A case of McKusick-Kaufman syndrome

    Directory of Open Access Journals (Sweden)

    Se Hyung Son

    2011-05-01

    Full Text Available McKusick-Kaufman syndrome (MKS is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC and postaxial polydactyly (PAP. We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children’s Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasoundguided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

  2. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

    Science.gov (United States)

    Moore, S W

    2012-11-01

    Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. It is characterized as a sex-linked heterogonous disorder with variable severity and incomplete penetrance giving rise to a variable pattern of inheritance. Although Hirschsprung's disease occurs as an isolated phenotype in at least 70% of cases, it is not infrequently associated with a number of congenital abnormalities and associated syndromes, demonstrating a spectrum of congenital anomalies. Certain of these syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction, in its pathogenesis. These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour associations. A number of other autosomal recessive syndromes include the Shah-Waardenburg, the Bardet-Biedl and Cartilage-hair hypoplasia, Goldberg-Shprintzen syndromes and other syndromes related to cholesterol and fat metabolism among others. The genetics of Hirschsprung's disease are highly complex with the majority of known genetic sites relating to the main susceptibility pathways (RET an EDNRB). Non-syndromic non-familial, short-segment HSCR appears to represent a non-Mendelian condition with variable expression and sex-dependent penetrance. Syndromic and familial forms, on the other hand, have complex patterns of inheritance and being reported as autosomal dominant, recessive and polygenic patterns of inheritance. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease could also be explained by the involvement of modifier genes, especially in its syndromic forms. In this review, we look at the chromosomal and Mendelian associations and their underlying signalling pathways

  3. Clinical and Molecular Investigations Into Ciliopathies

    Science.gov (United States)

    2016-08-31

    Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

  4. Genetics Home Reference: retinitis pigmentosa

    Science.gov (United States)

    ... by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome ; Refsum disease ; and neuropathy, ... for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The ...

  5. EURO-WABB

    DEFF Research Database (Denmark)

    Farmer, Amy; Aymé, Ségolène; de Heredia, Miguel Lopez;

    2013-01-01

    Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well charact...

  6. Assembly of primary cilia

    DEFF Research Database (Denmark)

    Pedersen, Lotte B; Veland, Iben R; Schrøder, Jacob M;

    2008-01-01

    in primary cilia assembly or function have been associated with a panoply of disorders and diseases, including polycystic kidney disease, left-right asymmetry defects, hydrocephalus, and Bardet Biedl Syndrome. Here we provide an up-to-date review focused on the molecular mechanisms involved in the assembly...

  7. AcEST: DK956766 [AcEST

    Lifescience Database Archive (English)

    Full Text Available 4|BBS4_HUMAN Bardet-Biedl syndrome 4 protein OS=Homo sap... 35 0.32 sp|A7TZE6|SKIT1_MOUSE Selection and upke...SVLGELDKAEEN 343 Y LG KA E+ Sbjct: 212 YLQLGIYQKAFEH 224 >sp|A7TZE6|SKIT1_MOUSE Selection and upkeep of intr

  8. Marfan's Syndrome: Detection and Management.

    Science.gov (United States)

    Cantwell, John D.

    1986-01-01

    Marfan's Syndrome, a disorder of connective tissue, has gained increased attention since the death of volleyball star Flo Hyman. This article reviews the disease and discusses methods of detection and management. (Author/MT)

  9. Inherited Retinal Degenerative Disease Registry

    Science.gov (United States)

    2016-03-21

    Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

  10. Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos

    Directory of Open Access Journals (Sweden)

    Carl Matthias

    2009-03-01

    Full Text Available Abstract Background The centrosome is the cell's microtubule organising centre, an organelle with important roles in cell division, migration and polarity. However, cells can divide and flies can, for a large part of development, develop without them. Many centrosome proteins have been identified but the roles of most are still poorly understood. The centrioles of the centrosome are similar to the basal bodies of cilia, hair-like extensions of many cells that have important roles in cell signalling and development. In a number of human diseases, such Bardet-Biedl syndrome, centrosome/cilium proteins are mutated, leading to polycystic kidney disease, situs inversus, and neurological problems, amongst other symptoms. Results We describe zebrafish (Danio rerio embryos depleted for two uncharacterised, centrosome proteins, Cep70 and Cep131. The phenotype of these embryos resembles that of zebrafish mutants for intraflagellar transport proteins (IFTs, with kidney and ear development affected and left-right asymmetry randomised. These organs and processes are those affected in Bardet-Biedl syndrome and other similar diseases. Like these diseases, the root cause of the phenotype lies, in fact, in dysfunctional cilia, which are shortened but not eliminated in several tissues in the morphants. Centrosomes and basal bodies, on the other hand, are present. Both Cep70 and Cep131 possess a putative HDAC (histone deacetylase interacting domain. However, we could not detect in yeast two-hybrid assays any interaction with the deacetylase that controls cilium length, HDAC6, or any of the IFTs that we tested. Conclusion Cep70 and Cep131 contribute to ciliogenesis in many tissues in the zebrafish embryo: cilia are made in cep70 and cep131 morphant zebrafish embryos but are shortened. We propose that the role of these centrosomal/basal body proteins is in making the cilium and that they are involved in determination of the length of the axoneme.

  11. Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes.

    Science.gov (United States)

    Dean, Samuel; Moreira-Leite, Flavia; Varga, Vladimir; Gull, Keith

    2016-08-30

    The transition zone (TZ) of eukaryotic cilia and flagella is a structural intermediate between the basal body and the axoneme that regulates ciliary traffic. Mutations in genes encoding TZ proteins (TZPs) cause human inherited diseases (ciliopathies). Here, we use the trypanosome to identify TZ components and localize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in the TZ than the Meckel syndrome (MKS) complex. Several of the TZPs identified here have human orthologs. Functional analysis shows essential roles for TZPs in motility, in building the axoneme central pair apparatus and in flagellum biogenesis. Analysis using RNAi and HaloTag fusion protein approaches reveals that most TZPs (including the MKS ciliopathy complex) show long-term stable association with the TZ, whereas the BBSome is dynamic. We propose that some Bardet-Biedl syndrome and MKS pleiotropy may be caused by mutations that impact TZP complex dynamics. PMID:27519801

  12. Sensory Ciliogenesis in Caenorhabditis elegans: Assignment of IFT Components into Distinct Modules Based on Transport and Phenotypic Profiles

    OpenAIRE

    Ou, Guangshuo; Koga, Makato; Oliver E Blacque; Murayama, Takashi; Ohshima, Yasumi; Schafer, Jenny C.; LI, Chunmei; Yoder, Bradley K.; Leroux, Michel R.; Scholey, Jonathan M.

    2007-01-01

    Sensory cilium biogenesis within Caenorhabditis elegans neurons depends on the kinesin-2–dependent intraflagellar transport (IFT) of ciliary precursors associated with IFT particles to the axoneme tip. Here we analyzed the molecular organization of the IFT machinery by comparing the in vivo transport and phenotypic profiles of multiple proteins involved in IFT and ciliogenesis. Based on their motility in wild-type and bbs (Bardet-Biedl syndrome) mutants, IFT proteins were classified into grou...

  13. Genetics of Obesity.

    Science.gov (United States)

    Srivastava, Apurva; Srivastava, Neena; Mittal, Balraj

    2016-10-01

    Numerous classical genetic studies have proved that genes are contributory factors for obesity. Genes are directly responsible for obesity associated disorders such as Bardet-Biedl and Prader-Willi syndromes. However, both genes as well as environment are associated with obesity in the general population. Genetic epidemiological approaches, particularly genome-wide association studies, have unraveled many genes which play important roles in human obesity. Elucidation of their biological functions can be very useful for understanding pathobiology of obesity. In the near future, further exploration of obesity genetics may help to develop useful diagnostic and predictive tests for obesity treatment. PMID:27605733

  14. The retinal ciliopathies.

    Science.gov (United States)

    Adams, N A; Awadein, Ahmed; Toma, Hassanain S

    2007-09-01

    While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease. The concept of "retinal ciliopathies" brings to attention the importance of further molecular analysis of this organelle as well as provides a potential common target for therapies for these disorders. The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome, McKusick-Kaufman syndrome, and Biemond syndrome. Mutations for these disorders have been found in retinitis pigmentosa-1 (RP1), retinitis pigmentosa GTPase regulator (RPGR), retinitis pigmentosa GTPase regulator interacting protein (RPGR-IP), as well as the Usher, Bardet-Biedl, and nephronophthisis genes. Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as ciliopathies may help the ophthalmologist to recognize associations between seemingly unrelated diseases and have a high degree of suspicion that a systemic finding may be present. PMID:17896309

  15. Down syndrome detection from facial photographs using machine learning techniques

    Science.gov (United States)

    Zhao, Qian; Rosenbaum, Kenneth; Sze, Raymond; Zand, Dina; Summar, Marshall; Linguraru, Marius George

    2013-02-01

    Down syndrome is the most commonly occurring chromosomal condition; one in every 691 babies in United States is born with it. Patients with Down syndrome have an increased risk for heart defects, respiratory and hearing problems and the early detection of the syndrome is fundamental for managing the disease. Clinically, facial appearance is an important indicator in diagnosing Down syndrome and it paves the way for computer-aided diagnosis based on facial image analysis. In this study, we propose a novel method to detect Down syndrome using photography for computer-assisted image-based facial dysmorphology. Geometric features based on facial anatomical landmarks, local texture features based on the Contourlet transform and local binary pattern are investigated to represent facial characteristics. Then a support vector machine classifier is used to discriminate normal and abnormal cases; accuracy, precision and recall are used to evaluate the method. The comparison among the geometric, local texture and combined features was performed using the leave-one-out validation. Our method achieved 97.92% accuracy with high precision and recall for the combined features; the detection results were higher than using only geometric or texture features. The promising results indicate that our method has the potential for automated assessment for Down syndrome from simple, noninvasive imaging data.

  16. A study to detect HELLP syndrome and partial HELLP syndrome among preeclamptic mothers and their impact on fetomaternal outcome

    Directory of Open Access Journals (Sweden)

    Abhijit Rakshit

    2014-01-01

    Full Text Available Objective: The purpose of the study was to detect & evaluate the feto-maternal outcome of HELLP syndrome & partial HELLP syndrome among preeclamptic mothers. Materials and methods: This cross sectional observational study analysed feto-maternal outcome in 44 patients with HELLP syndrome and 32 patients with partial HELLP syndrome and compared with 556 patients having preeclampsia without features of HELLP syndrome. Results: 600 patients were included in this study. The prevalence of HELLP syndrome and partial HELLP syndrome were found to be 7.3% and 5.3% respectively in preeclampsia. The systolic blood pressure, gestational age at admission and during delivery, haematological and biochemical variables, rate of spontaneous vaginal delivery and type of anaesthesia were significantly different in HELLP syndrome and partial HELLP syndrome than in the preeclampsia group. There were statistically significant difference in perinatal outcome like birth weight, intrauterine death, neonatal death, and admission in NICU. Eclampsia was significantly increased in both HELLP syndrome and partial HELLP syndrome. Conclusion: Both HELLP and partial HELLP syndrome must be diagnosed as soon as possible in pregnant or post partum women with preeclampsia. HELLP syndrome is severe than preeclampsia in terms of maternal and perinatal outcome. Partial HELLP syndrome is almost as grave as HELLP syndrome.

  17. Syndromic Surveillance for Detection of Influenza in Albania

    Directory of Open Access Journals (Sweden)

    ARTAN SIMAKU

    2014-03-01

    Full Text Available Motivated by the threat of infectious diseases and bioterrorism, syndromic surveillance systems are being developed and implemented around the world. The aim of the study was to describe the early warning surveillance system in Albania for detection of pandemic influenza 2009. Syndromic surveillance is a primary health care-facility-and emergency room-based syndromic surveillance system aiming at detecting outbreaks and undertaking public health actions. Acute Respiratory Infections (ARI consist of two syndromes: Upper and Lower respiratory infection. Weekly ARI consultation rates in 2009 were compared with the rates observed in the same period in the previous 10 years (1999-2008 of influenza season: weeks 40-20. Unlike previous years’ pattern, the rate of reported ARI increased sharply from 45th week, and peaked nationally at week 47, starting on 16 of November and representing 30% increase compared to previous week, 46. This rate was the highest observed compared to the same period of past 10 years of influenza surveillance and exceeded the 95th percentile of expected rates, thus, suggesting the circulation of a novel virus. Despite the end of the pandemic period, influenza A(H1N1pdm09 virus continued to circulate and became the most commonly detected virus in Albania and many other countries in the winter season of 2010–2011. The system is useful for detecting and responding to natural disease outbreaks such as seasonal and pandemic flu, and thus it has the potential to significantly advance and modernize the practice of public health surveillance

  18. Detecting Lesch-Nyhan syndrome by solid phase primer extension

    Energy Technology Data Exchange (ETDEWEB)

    Shumaker, J.M.; Caskey, C.T. [Baylor College of Medicine, Houston, TX (United States); Metspalu, A.

    1994-09-01

    A mutation detection method based upon the wild type human HPRT sequence is presented for identification of Lesch Nyhan syndrome. The technique consists of performing a biotinlyated PCR amplification of the region of interest, followed by isolation and purification of single stranded template using magnetic separation. Allele-specific primers are annealed adjacent to the potential mutation site on the template. A terminal fluorescent deoxynucleotide addition is performed with a DNA template-dependent polymerase to distinguish between the mutant and wild-type sequence. The products are purified from unincorporated ddNTPs, eluted and finally analyzed on an ABI 373 to identify the mutation. The length of an extension primer is used as a position signature for mutations. The fidelity of nucleotide incorporation provides an excellent signal-to-noise ratio for the detection of nine HPRT mutations within eight cell lines. This method should detect all types of mutations except for repeated sequences that are longer than the primers. Moreover, the method is being extended to a solid support assay, whereby the extension primers are attached to a two-dimensional glass surface. Following extension, the solid support is analyzed for radioactive incorporation. We have shown the sequence determination of a five base region of a wild-type sequence and two different HPRT mutations. As more dense oligonucleotide arrays are produced, this method could be extended to sequence the complete coding region of HPRT.

  19. Infants with Williams syndrome detect statistical regularities in continuous speech.

    Science.gov (United States)

    Cashon, Cara H; Ha, Oh-Ryeong; Graf Estes, Katharine; Saffran, Jenny R; Mervis, Carolyn B

    2016-09-01

    Williams syndrome (WS) is a rare genetic disorder associated with delays in language and cognitive development. The reasons for the language delay are unknown. Statistical learning is a domain-general mechanism recruited for early language acquisition. In the present study, we investigated whether infants with WS were able to detect the statistical structure in continuous speech. Eighteen 8- to 20-month-olds with WS were familiarized with 2min of a continuous stream of synthesized nonsense words; the statistical structure of the speech was the only cue to word boundaries. They were tested on their ability to discriminate statistically-defined "words" and "part-words" (which crossed word boundaries) in the artificial language. Despite significant cognitive and language delays, infants with WS were able to detect the statistical regularities in the speech stream. These findings suggest that an inability to track the statistical properties of speech is unlikely to be the primary basis for the delays in the onset of language observed in infants with WS. These results provide the first evidence of statistical learning by infants with developmental delays. PMID:27299804

  20. Detection of mycotoxins in patients with chronic fatigue syndrome.

    Science.gov (United States)

    Brewer, Joseph H; Thrasher, Jack D; Straus, David C; Madison, Roberta A; Hooper, Dennis

    2013-04-11

    Over the past 20 years, exposure to mycotoxin producing mold has been recognized as a significant health risk. Scientific literature has demonstrated mycotoxins as possible causes of human disease in water-damaged buildings (WDB). This study was conducted to determine if selected mycotoxins could be identified in human urine from patients suffering from chronic fatigue syndrome (CFS). Patients (n = 112) with a prior diagnosis of CFS were evaluated for mold exposure and the presence of mycotoxins in their urine. Urine was tested for aflatoxins (AT), ochratoxin A (OTA) and macrocyclic trichothecenes (MT) using Enzyme Linked Immunosorbent Assays (ELISA). Urine specimens from 104 of 112 patients (93%) were positive for at least one mycotoxin (one in the equivocal range). Almost 30% of the cases had more than one mycotoxin present. OTA was the most prevalent mycotoxin detected (83%) with MT as the next most common (44%). Exposure histories indicated current and/or past exposure to WDB in over 90% of cases. Environmental testing was performed in the WDB from a subset of these patients. This testing revealed the presence of potentially mycotoxin producing mold species and mycotoxins in the environment of the WDB. Prior testing in a healthy control population with no history of exposure to a WDB or moldy environment (n = 55) by the same laboratory, utilizing the same methods, revealed no positive cases at the limits of detection.

  1. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

    Science.gov (United States)

    Schaefer, Elise; Durand, Myriam; Stoetzel, Corinne; Doray, Bérénice; Viville, Brigitte; Hellé, Sophie; Danse, Jean-Marc; Hamel, Christian; Bitoun, Pierre; Goldenberg, Alice; Finck, Sonia; Faivre, Laurence; Sigaudy, Sabine; Holder, Muriel; Vincent, Marie-Claire; Marion, Vincent; Bonneau, Dominique; Verloes, Alain; Nisand, Israël; Mandel, Jean-Louis; Dollfus, Hélène

    2011-01-01

    Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. PMID:21044901

  2. Paraneoplastic autoimmune multiorgan syndrome (paraneoplastic pemphigus with unusual manifestations and without detectable autoantibodies

    Directory of Open Access Journals (Sweden)

    Jimena Sanz-Bueno

    2014-01-01

    Full Text Available We describe a patient with paraneoplastic autoimmune multiorgan syndrome (PAMS secondary to a lymphoblastic T- cell lymphoma who presented with a lichenoid dermatitis and vitiligo, later developing bronchiolitis obliterans and autoimmune hepatitis. Notably, he had no detectable autoantibodies. The development of vitiligo and autoimmune hepatic involvement probably indicate a role for cytotoxic T- cell lymphocytes in the pathogenesis of this syndrome.

  3. Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Jensen, Hanne; Larsen, Michael;

    2013-01-01

    Abstract Purpose: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children. Methods: The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired......: Of the 1,204,235 Danish children aged 0-17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently...... dystrophy in Danish children is 13 per 100,000, which is a considerable increase compared to the 9.8 per 100,000 reported by Rosenberg in 1988. The prevalence of Leber congenital amaurosis, Usher syndrome, and Bardet-Biedl syndrome doubled, which may be explained by a documented history of consanguinity...

  4. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity

    DEFF Research Database (Denmark)

    Andersen, Kirstine Lynge; Echwald, Søren Morgenthaler; Larsen, Lesli Hingstrup;

    2005-01-01

    was identified in two families and showed partial cosegregation with obesity. The Pro(39)Pro, Ile(178)Ile, and Arg(517)Cys variants are in complete linkage disequilibrium and defined a prevalent haplotype. In a case-control study, the Arg(517)Cys polymorphism allele prevalence was 11.4% [95% confidence interval......Obesity is a prominent feature of the Bardet-Biedl syndrome (BBS), one subset of which, BBS6, is due to mutations in the chaperonin-like gene termed the McKusick-Kaufman syndrome (MKKS) gene. We tested whether variation in MKKS contributes to common and probably polygenic forms of obesity...... by performing mutation analysis of the coding region in 60 Danish white men with juvenile-onset obesity. Five variants were identified, including two synonymous mutations (Pro(39)Pro and Ile(178)Ile) and three nonsynonymous variants (Ala(242)Ser, Arg(517)Cys, and Gly(532)Val). Furthermore, the rare Ala(242)Ser...

  5. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Giuseppina Rapacchia

    2015-01-01

    Full Text Available Panorama Plus (Natera, a single-nucleotide polymorphism- (SNP- based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.

  6. Remission of screen-detected metabolic syndrome and its determinants: an observational study

    Directory of Open Access Journals (Sweden)

    den Engelsen Corine

    2012-09-01

    Full Text Available Abstract Background Early detection and treatment of the metabolic syndrome may prevent diabetes and cardiovascular disease. Our aim was to assess remission of the metabolic syndrome and its determinants after a population based screening without predefined intervention in the Netherlands. Methods In 2006 we detected 406 metabolic syndrome cases (The National Cholesterol Education Program’s Adult Treatment Panel III (NCEP ATP III definition among apparently healthy individuals with an increased waist circumference. They received usual care in a primary care setting. After three years metabolic syndrome status was re-measured. We evaluated which baseline determinants were independently associated with remission. Results The remission rate among the 194 participants was 53%. Baseline determinants independently associated with a remission were the presence of more than three metabolic syndrome components (OR 0.46 and higher levels of waist circumference (OR 0.91, blood pressure (OR 0.98 and fasting glucose (OR 0.60. Conclusions In a population with screen-detected metabolic syndrome receiving usual care, more than half of the participants achieved a remission after three years. This positive result after a relatively simple strategy provides a solid basis for a nation-wide implementation. Not so much socio-demographic variables but a higher number and level of the metabolic syndrome components were predictors of a lower chance of remission. In such cases, primary care physicians should be extra alert.

  7. Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception.

    Science.gov (United States)

    Marschik, Peter B; Einspieler, Christa; Sigafoos, Jeff

    2012-01-01

    To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The results showed that participants were accurate in differentiating the vocalizations of typically developing children compared to children with Rett syndrome. However, the accuracy for rating verbal behaviors was dependent on the type of vocalization with greater accuracy for canonical babbling compared to cooing vocalizations. The results suggest a potential role for the use of rating child vocalizations for early detection of Rett syndrome. This is important because clinical criteria related to speech and language development remain important for early identification of Rett syndrome.

  8. Detecting Chronic Fatigue Syndrome: The Role of Counselors.

    Science.gov (United States)

    Albrecht, Frank; Wallace, Marsha

    1998-01-01

    Counselors often see persons with undiagnosed cases of chronic fatigue syndrome and may play an important role in referring these clients appropriately. Terminology, screening, epidemiology, course, and treatment are reviewed. Case histories illustrate how suspected cases can be distinguished from depression and other conditions. Diagnostic…

  9. Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus

    OpenAIRE

    Ke, Wei-Lin; Zhao, Wei-Hua; Wang, Xin-Yu

    2015-01-01

    Objective: The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. Methods: A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive aneuploidy test, the pregnant women at high risk were offered amniocentesis karyotype analysis and th...

  10. Early detection possibilities of obstructive sleep apnoea syndrome

    Directory of Open Access Journals (Sweden)

    Vučinić Predrag

    2012-01-01

    Full Text Available Introduction. Obstructive sleep apnoea (OSA syndrome represents a significant medical problem due to numerous consequences that may follow it. Objective. The aim of the study was to analyze morphology of the maxilla in children with mouth breathing, and to assess possible characteristics in persons with marked clinical features of OSA. Methods. The sample comprised of 60 examinees aged from 8-10 years, all mouth-breathers. The following X-ray cephalometric parameters were measured: angle of maxillary pragmatism, cranial base angle, angle between the palatal plane and the anterior cranial base, maxillary length, distance from the most prominent labial surface of the maxillary central incisor to NA line, angle between the axis of the upper maxillary incisor and NA line. Following parameters were obtained from the casts: anterior and posterior width of the maxillary arch, height of the maxillary arch, index of the palatal height, as well as the apical base length. Assessed values were then compared to the corresponding norms. Results. Compared to the corresponding norms, statistically significant lower values were determined for the following parameters of the sample: SpP/SN, AW, PW, AB. Conclusion. Analysis of the morphological characteristics of the maxilla in mouth breathing children showed characteristics also present in persons with marked clinical features of OSA syndrome, such as a narrow maxilla, insufficient apical base length, as well as the reduced angle of the palatal plane angle to the anterior cranial base. All these suggest a possible increased risk of developing OSA syndrome in children’s later age.

  11. SONOGRAPHIC DETECTION OF INTUSSCEPTIO N WITH MALROTATION: WAUGHS SYNDROME

    Directory of Open Access Journals (Sweden)

    Praveen Kumar

    2015-03-01

    Full Text Available Intussusception and intestinal malrotation are common causes of intestinal obstruction in infants and children. The two conditions may coexist (Waugh’s syndrome but simultaneous occurrence with midgut volvulus is rare. Malrotation of the gut, a pediatric pathology has been estimated to affect approximately 1 in 500 live births. Malrotation by its nature is associated with mobile right colon, and it might be a prerequisite for intussusception. In this case report, we have discussed that the clinic al findings, preoperative imaging are helpful in diagnosing malrotation and midgut volvulus which are associated with intussusception. Thus it aids in choosing the most appropriate surgical approach.

  12. An Experimental Approach to Detecting Dementia in Down Syndrome: A Paradigm for Alzheimer's Disease

    Science.gov (United States)

    Nelson, Linda D.; Scheibel, Kevin E.; Ringman, John M.; Sayre, James W.

    2007-01-01

    Measures developed from animal models of aging may detect dementia of the Alzheimer's type in a population at-risk for Alzheimer's disease (AD). Although, by middle age, individuals with Down syndrome (DS) show an extraordinarily high prevalence of AD-type pathology, their severe idiopathic cognitive deficits tend to confound the "clinical"…

  13. EigenEvent: An Algorithm for Event Detection from Complex Data Streams in Syndromic Surveillance

    OpenAIRE

    Fanaee-T, Hadi; Gama, João

    2014-01-01

    Syndromic surveillance systems continuously monitor multiple pre-diagnostic daily streams of indicators from different regions with the aim of early detection of disease outbreaks. The main objective of these systems is to detect outbreaks hours or days before the clinical and laboratory confirmation. The type of data that is being generated via these systems is usually multivariate and seasonal with spatial and temporal dimensions. The algorithm What's Strange About Recent Events (WSARE) is ...

  14. Specific detection of the toxic shock syndrome toxin-1 gene using the polymerase chain reaction.

    Science.gov (United States)

    Jaulhac, B; Prevost, G; Piemont, Y

    1991-08-01

    A rapid and specific assay for toxic shock syndrome toxin-1 gene (tst gene) detection in Staphylococcus aureus was developed using the polymerase chain reaction. A two-primer set and an oligonucleotide detection probe were synthesized. After 40 cycles of amplification, detection of a 160-bp amplified DNA fragment was carried out by agarose gel electrophoresis and Southern blot hybridization. This assay was sensitive since it was able to detect 1-10 bacteria. It was also specific since no amplification was documented with DNAs from enterotoxigenic S. aureus or Gram-negative bacteria devoid of the tst gene.

  15. Usefulness of Syndromic Surveillance for Early Outbreak Detection in Small Islands: The Case of Mayotte

    OpenAIRE

    Vilain, Pascal; Maillard, Olivier; Raslan-Loubatie, Julien; Abdou, Mohamed Ahmed; Lernout, Tinne; Filleul, Laurent

    2013-01-01

    Objective To present the usefulness of syndromic surveillance for the detection of infectious diseases outbreak in small islands, based on the experience of Mayotte. Introduction Mayotte Island, a French overseas department of around 374 km2 and 200 000 inhabitants is located in the North of Mozambique Channel in the Indian Ocean (Figure 1). In response to the threat of the pandemic influenza A(H1N1)2009 virus emergence, a syndromic surveillance system has been implemented in order to monitor...

  16. Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History.

    Science.gov (United States)

    Shima, Yoshio; Migita, Makoto

    2016-01-01

    Peters' plus syndrome is a rare autosomal recessive condition characterized by a combination of typical ocular defects and other systemic abnormalities. We present a case of this uncommon syndrome that we diagnosed during a fetal ultrasonographical examination. Because the patient exhibited microcephaly and anterior staphyloma of the right eye and because impending rupture was feared, we performed ophthalmectomy during the neonatal period. Fetal ophthalmological anomalies are often detected during ultrasonographic examination targeting other systemic abnormalities, with positive family histories providing important diagnostic clues. This case is, to our knowledge, the first to be reported of prenatally diagnosed Peters' plus syndrome in a patient with no known family history in whom total blindness was prevented with an early referral to specialists. PMID:27430178

  17. Polysplenia Syndrome Detected after Chest Symptoms in Two Adult Patients: Case Report and Review of Literature

    International Nuclear Information System (INIS)

    Polisplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome and means ambiguous location of the major thoracic and abdominal organs with vascular anomalies and multiple spleens. We reported on the findings of computed tomography (CT) of PSS in adults, detected incidentally. Two woman underwent a CT examination of the thorax for different thoracic pathologies. There were common abnormalities such as hyparterial bronchi and absence of middle lobe fissure on CTscans suggesting heterotaxy syndrome. Therefore, the abdominal CTs were performed to detect the accompanying abdominal anomalies. Our two cases defined as PSS were diagnosed with multiple spleens in the normal location in the abdomen. The left-dominant liver and short pancreas with agenesis of the pancreatic tail and lateral part of the body were detected on CT scan. In the first case, the vascular abnormalities were as follows: variant entrance of the main portal vein into the liver and atypically located superior mesenteric vein (SMV) joining with the splenic vein to form the portal vein. In the second case, the preduodenal portal vein and hemiazygos continuation with interruption of the hepatic segment of the inferior vena cava (IVC) were the vascular anomalies. The bowels were malrotated in the second case. Although such cases are usually admitted as abdominal emergency, our two cases were detected during examinations for thoracic and cardiac pathologies. The knowledge and awareness of PSS can be helpful to diagnose pathology and plan surgical procedures

  18. Best leads in the standard electrocardiogram for the emergency detection of acute coronary syndrome.

    OpenAIRE

    Green, Michael; Ohlsson, Mattias; Hansen, Jakob; Björk, Jonas; Edenbrandt, Lars; Ekelund, Ulf

    2007-01-01

    Background and Purpose: The purpose of this study was to determine which leads in the standard 12-lead electrocardiogram (ECG) are the best for detecting acute coronary syndrome (ACS) among chest pain patients in the emergency department. Methods: Neural network classifiers were used to determine the predictive capability of individual leads and combinations of leads from 862 ECCs from chest pain patients in the emergency department at Lund University Hospital. Results: The best individual le...

  19. Effect of renal Doppler ultrasound on the detection of nutcracker syndrome in children with hematuria

    OpenAIRE

    Shin, Jae Il; Park, Jee Min; Lee, Jae Seung; Kim, Myung Joon

    2006-01-01

    To assess the detection rate of nutcracker syndrome in children with isolated hematuria, renal Doppler ultrasound examinations were routinely performed on 216 consecutive children (176 microscopic hematuria and 40 gross hematuria). Renal Doppler ultrasound was also performed on 32 healthy normal children. The peak velocity (PV) was measured at the hilar portion of the left renal vein (LRV) and at the LRV between the aorta and the superior mesenteric artery. The PV at the aortomesenteric porti...

  20. Better detection of platelet aggregation in patients with metabolic syndrome using epinephrine and ADP

    OpenAIRE

    Perez-Campos-Mayoral, Laura; Pérez-Campos,Eduardo; Zenteno, Edgar; Majluf-Cruz, Abraham; Perez-Ortega, Eduardo; Matias-Pérez, Diana; Rodal-Canales, Francisco J; Martínez-Cruz, Ruth; Pina-Canseco, Socorro; Reyes Franco, Miguel Angel; Mayoral Andrade, Gabriel; Hernández, Pedro; Gallegos, Belem

    2014-01-01

    Background Patients with metabolic syndrome (MS) often have increased platelet aggregation. In order to determine which concentration detects a higher level of platelet aggregation in patients with MS, the agonists ADP and epinephrine were compared. Methods The study included 56 subjects with MS and 53 healthy subjects. Blood pressure, weight, body-mass index, and hip-to-waist ratio were collected from all subjects. Insulin, glucose, total serum cholesterol, HDL-C, LDL-C, total triglycerides,...

  1. Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0).

    OpenAIRE

    Watt, J L; Couzin, D A; Johnston, A.W.; Jandial, V; Gray, E. S.

    1981-01-01

    A case of Turner's syndrome, detected antenatally and complicated by the finding of trisomy 20 mosaicism in 50% of cells from each of two amniotic fluid cultures, is described. Cultures from seven fetal tissues in the subsequent abortus showed a predominance of 45,X cells, but nevertheless suggested the existence of a very low level of trisomy 20 mosaicism in three fetal tissues. The diagnostic dilemma in interpreting trisomy 20 mosaicism is discussed.

  2. Early detection of influenza outbreaks using the DC Department of Health's syndromic surveillance system

    Directory of Open Access Journals (Sweden)

    Washington Samuel C

    2009-12-01

    Full Text Available Abstract Background Since 2001, the District of Columbia Department of Health has been using an emergency room syndromic surveillance system to identify possible disease outbreaks. Data are received from a number of local hospital emergency rooms and analyzed daily using a variety of statistical detection algorithms. The aims of this paper are to characterize the performance of these statistical detection algorithms in rigorous yet practical terms in order to identify the optimal parameters for each and to compare the ability of two syndrome definition criteria and data from a children's hospital versus vs. other hospitals to determine the onset of seasonal influenza. Methods We first used a fine-tuning approach to improve the sensitivity of each algorithm to detecting simulated outbreaks and to identifying previously known outbreaks. Subsequently, using the fine-tuned algorithms, we examined (i the ability of unspecified infection and respiratory syndrome categories to detect the start of the flu season and (ii how well data from Children's National Medical Center (CNMC did versus all the other hospitals when using unspecified infection, respiratory, and both categories together. Results Simulation studies using the data showed that over a range of situations, the multivariate CUSUM algorithm performed more effectively than the other algorithms tested. In addition, the parameters that yielded optimal performance varied for each algorithm, especially with the number of cases in the data stream. In terms of detecting the onset of seasonal influenza, only "unspecified infection," especially the counts from CNMC, clearly delineated influenza outbreaks out of the eight available syndromic classifications. In three of five years, CNMC consistently flags earlier (from 2 days up to 2 weeks earlier than a multivariate analysis of all other DC hospitals. Conclusions When practitioners apply statistical detection algorithms to their own data, fine tuning

  3. DETECTION OF WHITE SPOT SYNDROME VIRUS(WSSV) OF PENAEUS CHINENSIS BY IN SITU HYBRIDIZATION

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    White Spot Syndrome Virus (WSSV) was purified from hemolymph of infected shrimp. After nucleic acid extraction from the purified virus particles, EcoR I-digested fragments of the WSSV genome were cloned; three of these fragments were used as non-radioactive probes labeled with DIG-11-dUTP. The probes hybridized in situ, with sections located in the nuclei of all WSSV-infected tissues. The virus was detected in the gill, stomach, epidermis, and connective tissue and so on, but not detected in healthy shrimp tissues and epithelial cells of hepatopancreatic tubules of diseased shrimp.

  4. Detection of cognitive impairment in patients with obstructive sleep apnea hypopnea syndrome using mismatch negativity

    Institute of Scientific and Technical Information of China (English)

    Xiaohui Wen; Ningyu Wang; Jinfeng Liu; Zhanfeng Yan; Zhonghai Xin

    2012-01-01

    In this experiment, 97 patients with obstructive sleep apnea hypopnea syndrome were divided into three groups (mild, moderate, severe) according to minimum oxygen saturation, and 35 healthy subjects were examined as controls. Cognitive function was determined using the mismatch negativity paradigm and the Montreal Cognitive Assessment. The results revealed that as the disease worsened, the mismatch negativity latency was gradually extended, and the amplitude gradually declined in patients with obstructive sleep apnea hypopnea syndrome. Importantly, mismatch negativity latency in severe patients with a persistent time of minimum oxygen saturation 60 seconds. Correlation analysis revealed a negative correlation between minimum oxygen saturation latency and Montreal Cognitive Assessment scores. These findings indicate that intermittent night-time hypoxemia affects mismatch negativity waveforms and Montreal Cognitive Assessment scores. As indicators for detecting the cognitive functional status of obstructive sleep apnea hypopnea syndrome patients, the sensitivity of mismatch negativity is 82.93%, the specificity is 73.33%, the accuracy rate is 81.52%, the positive predictive value is 85.00%, the negative predictive value is 70.21%, the positive likelihood ratio is 3, and the negative likelihood ratio is 0.23. These results indicate that mismatch negativity can be used as an effective tool for diagnosis of cognitive dysfunction in obstructive sleep apnea hypopnea syndrome patients.

  5. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Teshima, I.; Chadwick, D.; Chitayat, D. [Hospital for Sick Children and Univ. of Toronto, Ontario (Canada)

    1996-03-29

    We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. In a series of 118 samples from patients referred for PWS or AS, 29 had deletions by FISH analysis. These included two brothers with a paternally transmitted deletion detectable with the probe for SNRPN only. G-banding analysis was less sensitive for deletion detection but useful in demonstrating other cytogenetic alterations in four cases. Methylation and CA-repeat analyses of 15q11-q13 were used to validate the FISH results. Clinical findings of patients with deletions were variable, ranging from newborns with hypotonia as the only presenting feature to children who were classically affected. We conclude that FISH analysis is a rapid and reliable method for detection of deletions within 15q11-q13 and whenever a deletion is found, FISH analysis of parental chromosomes should also be considered. 41 refs., 4 figs., 2 tabs.

  6. Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus

    Science.gov (United States)

    Ke, Wei-Lin; Zhao, Wei-Hua; Wang, Xin-Yu

    2015-01-01

    Objective: The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. Methods: A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive aneuploidy test, the pregnant women at high risk were offered amniocentesis karyotype analysis and the pregnant at low risk were followed up to make sure the newborn outcome. Results: The prenatal noninvasive aneuploidy test was positive for trisomy 21 in 17 cases, for trisomy 18 in 6 cases and for trisomy 13 in 1 case, which of all were confirmed by karyotype analysis. Newborns of low risk gestational woman detected by prenatal noninvasive aneuploidy for trisomy 21, 18, 13 were followed up and no one was found with trisomy. Conclusions: The prenatal noninvasive aneuploidy test is highly accurate for detection of trisomy 21, 18 and 13, which can be considered as a practical alternative for traditional invasive diagnostic procedures. PMID:26309618

  7. Dye Labelled Monoclonal Antibody Assay for Detection of Toxic Shock Syndrome Toxin -1 from Staphylococcus Aureus

    Directory of Open Access Journals (Sweden)

    V Javid Khojasteh

    2011-12-01

    Full Text Available Objective: The aim of study was to develop a rapid assay, dye labelled monoclonal antibody assay (DLMAA, using non-radioactive organic synthetic dyes for identification of Toxic Shock Syndrome Toxin-1 (TSST-1 producing strains of Staphylococcus aureus.Materials and Methods: The assay protocol required only two simple steps; addition of TSST-1 antigen to a nitrocellulose membrane and then adding a colloidal dye labelled antibody (D/A suspension detection reagent.Results: The sensitivity and specificity of the assay was determined relative to positive and negative strains compared to an ELISA assay. Overall 100% agreement was found between both assays. The sensitivity for detection of TSST-1 was 30 ng.Conclusion: The DLMAA did not require handling and disposal of radioactive materials. It is a rapid qualitative technique for detection of TSST-1 toxin at room temperature within a short time.

  8. First trimester PAPP-A in the detection of non-Down syndrome aneuploidy.

    Science.gov (United States)

    Ochshorn, Y; Kupferminc, M J; Wolman, I; Orr-Urtreger, A; Jaffa, A J; Yaron, Y

    2001-07-01

    Combined first trimester screening using pregnancy associated plasma protein-A (PAPP-A), free beta-human chorionic gonadotrophin, and nuchal translucency (NT), is currently accepted as probably the best combination for the detection of Down syndrome (DS). Current first trimester algorithms provide computed risks only for DS. However, low PAPP-A is also associated with other chromosome anomalies such as trisomy 13, 18, and sex chromosome aneuploidy. Thus, using currently available algorithms, some chromosome anomalies may not be detected. The purpose of the present study was to establish a low-end cut-off value for PAPP-A that would increase the detection rates for non-DS chromosome anomalies. The study included 1408 patients who underwent combined first trimester screening. To determine a low-end cut-off value for PAPP-A, a Receiver-Operator Characteristic (ROC) curve analysis was performed. In the entire study group there were 18 cases of chromosome anomalies (trisomy 21, 13, 18, sex chromosome anomalies), 14 of which were among screen-positive patients, a detection rate of 77.7% for all chromosome anomalies (95% CI: 55.7-99.7%). ROC curve analysis detected a statistically significant cut-off for PAPP-A at 0.25 MoM. If the definition of screen-positive were to also include patients with PAPP-AMoM, the detection rate would increase to 88.8% for all chromosome anomalies (95% CI: 71.6-106%). This low cut-off value may be used until specific algorithms are implemented for non-Down syndrome aneuploidy. PMID:11494288

  9. Detection of thoracic infections by nuclear medicine techniques in the acquired immunodeficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kramer, E.L.; Sanger, J.J. (Memorial Sloan-Kettering Cancer Center, New York, NY (USA))

    1989-11-01

    The challenge of the acquired immunodeficiency syndrome (AIDS) for nuclear medicine has been the early detection of related intrathoracic opportunistic infections, inflammatory conditions, and neoplasms. Gallium-67 citrate scanning has proved a sensitive test not only for Pneumocystis carinii pneumonia but for many of the other opportunistic infections and malignancies, including mycobacterial infections and lymphoma. Patterns and intensity of gallium uptake may suggest more specific diagnoses. Indium-111-labeled white blood cells may also be a valuable diagnostic tool in the AIDS patient.41 references.

  10. Indirect ELISA with Recombinant GP5 for Detecting Antibodies to Porcine Reproductive and Respiratory Syndrome Virus

    Institute of Scientific and Technical Information of China (English)

    Yan Chen; Hong Tian; Jian-Hui He; Jin-Yin Wu; You-jun Shang; Xiang-tao Liu

    2011-01-01

    Porcine reproductive and respiratory syndrome is caused by the PRRS virus(PRRSV), which has six structural proteins(GP2, GP3, GP4, GP5, M and N). GP5 and N protein are important targets for serological detection by enzyme-linked immunosorbent assay(ELISA)and other methods. Toward this goal, we developed an indirect ELISA with recombinant GP5 antigens and this method was validated by comparison to the LSI PRRSV-Ab ELISA kit. The results indicated that the optimal concentration of coated recombinant antigen was 0.2 μg/well for a serum dilution of 1:40. The rate of agreement with the LSI PRRSV-Ab kit was 88.7%(266/300). These results support the potential use of recombinant GP5 as an antigen for indirect ELISA to detect PRRSV antibodies in pigs.

  11. Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Lin Lung-Huang

    2009-02-01

    Full Text Available Abstract Background Chromosome 22q11 deletion syndrome (22q11DS causes a developmental disorder during the embryonic stage, usually because of hemizygous deletions. The clinical pictures of patients with 22q11DS vary because of polymorphisms: on average, approximately 93% of affected individuals have a de novo deletion of 22q11, and the rest have inherited the same deletion from a parent. Methods using multiple genetic markers are thus important for the accurate detection of these microdeletions. Methods We studied 12 babies suspected to carry 22q11DS and 18 age-matched healthy controls from unrelated Taiwanese families. We determined genomic variance using microarray-based comparative genomic hybridization (array-CGH, quantitative real-time polymerase chain reaction (qPCR and multiplex ligation-dependent probe amplification (MLPA. Results Changes in genomic copy number were significantly associated with clinical manifestations for the classical criteria of 22q11DS using MPLA and qPCR (p Conclusion Both MLPA and qPCR could produce a clearly defined range of deleted genomic DNA, whereas there must be a deleted genome that is not distinguishable using MLPA. These data demonstrate that such multiple genetic approaches are necessary for the unambiguous molecular detection of these types of complicated genomic syndromes.

  12. Effect of passive acoustic sampling methodology on detecting bats after declines from white nose syndrome

    Science.gov (United States)

    Coleman, Laci S.; Ford, W. Mark; Dobony, Christopher A.; Britzke, Eric R.

    2014-01-01

    Concomitant with the emergence and spread of white-nose syndrome (WNS) and precipitous decline of many bat species in North America, natural resource managers need modified and/or new techniques for bat inventory and monitoring that provide robust occupancy estimates. We used Anabat acoustic detectors to determine the most efficient passive acoustic sampling design for optimizing detection probabilities of multiple bat species in a WNS-impacted environment in New York, USA. Our sampling protocol included: six acoustic stations deployed for the entire duration of monitoring as well as a 4 x 4 grid and five transects of 5-10 acoustic units that were deployed for 6-8 night sample durations surveyed during the summers of 2011-2012. We used Program PRESENCE to determine detection probability and site occupancy estimates. Overall, the grid produced the highest detection probabilities for most species because it contained the most detectors and intercepted the greatest spatial area. However, big brown bats (Eptesicus fuscus) and species not impacted by WNS were detected easily regardless of sampling array. Endangered Indiana (Myotis sodalis) and little brown (Myotis lucifugus) and tri-colored bats (Perimyotis subflavus) showed declines in detection probabilities over our study, potentially indicative of continued WNS-associated declines. Identification of species presence through efficient methodologies is vital for future conservation efforts as bat populations decline further due to WNS and other factors.   

  13. Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

    OpenAIRE

    Satoshi Narumi; Kumihiro Matsuo; Tomohiro Ishii; Yusuke Tanahashi; Tomonobu Hasegawa

    2013-01-01

    Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the present study, we aimed to develop an NGS-based method to detect low-abundance somat...

  14. Molecular cytogenetic detection of chromosome 15 deletions in patients with Prader-Willi and Angelman syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Chadwick, D.E.; Weksberg, R.; Shuman, C. [Hospital for Sick Children, Toronto (Canada)] [and others

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct genetic disorders involving alterations of chromosome 15q11-q13. Approximately 75% of individuals with PWS and AS have deletions within 15q11-q13 by molecular analysis. We have evaluated fluorescence in situ hybridization (FISH) for the clinical laboratory detection of del(15)(q11q13) using the cosmid probes D15S11 and GABRB3 (ONCOR, Gaithersburg, NY). 4/4 PWS and 1/1 AS patients previously identified as having cytogenetic deletions were deleted for both probes. In a prospectively ascertained series of 54 patient samples referred to rule out either PWS or AS, 8 were deleted for D15S11 and GABRB3. In addition, an atypical deletion patient with PWS was also identified who was found to be deleted for GABRB3 but not D15S11. The SNRPN locus was also deleted in this patient. Only 4 of the 9 patient samples having molecular cytogenetic deletions were clearly deleted by high resolution banding (HRB) analysis. The microscopic and submicroscopic deletions have been confirmed by dinucleotide (CA) repeat analysis. Microsatellite polymorphism analysis was also used to demonstrate that five non-deletion patients in this series had biparental inheritance of chromosome 15, including region q11-q13. Deletions were not detected by either HRB, FISH or microsatellite polymorphism analysis in samples obtained from parents of the deletion patients. Methylation studies of chromosome 15q11-q13 are in progress for this series of PWS and AS families. FISH analysis of chromosome 15q11-q13 in patients with PWS and AS is a rapid, sensitive and reliable method for deletion detection.

  15. Spatial-temporal features of thermal images for Carpal Tunnel Syndrome detection

    Science.gov (United States)

    Estupinan Roldan, Kevin; Ortega Piedrahita, Marco A.; Benitez, Hernan D.

    2014-02-01

    Disorders associated with repeated trauma account for about 60% of all occupational illnesses, Carpal Tunnel Syndrome (CTS) being the most consulted today. Infrared Thermography (IT) has come to play an important role in the field of medicine. IT is non-invasive and detects diseases based on measuring temperature variations. IT represents a possible alternative to prevalent methods for diagnosis of CTS (i.e. nerve conduction studies and electromiography). This work presents a set of spatial-temporal features extracted from thermal images taken in healthy and ill patients. Support Vector Machine (SVM) classifiers test this feature space with Leave One Out (LOO) validation error. The results of the proposed approach show linear separability and lower validation errors when compared to features used in previous works that do not account for temperature spatial variability.

  16. Standard and AEGIS nicking molecular beacons detect amplicons from the Middle East respiratory syndrome coronavirus.

    Science.gov (United States)

    Yaren, Ozlem; Glushakova, Lyudmyla G; Bradley, Kevin M; Hoshika, Shuichi; Benner, Steven A

    2016-10-01

    This paper combines two advances to detect MERS-CoV, the causative agent of Middle East Respiratory Syndrome, that have emerged over the past few years from the new field of "synthetic biology". Both are based on an older concept, where molecular beacons are used as the downstream detection of viral RNA in biological mixtures followed by reverse transcription PCR amplification. The first advance exploits the artificially expanded genetic information systems (AEGIS). AEGIS adds nucleotides to the four found in standard DNA and RNA (xNA); AEGIS nucleotides pair orthogonally to the A:T and G:C pairs. Placing AEGIS components in the stems of molecular beacons is shown to lower noise by preventing unwanted stem invasion by adventitious natural xNA. This should improve the signal-to-noise ratio of molecular beacons operating in complex biological mixtures. The second advance introduces a nicking enzyme that allows a single target molecule to activate more than one beacon, allowing "signal amplification". Combining these technologies in primers with components of a self-avoiding molecular recognition system (SAMRS), we detect 50 copies of MERS-CoV RNA in a multiplexed respiratory virus panel by generating fluorescence signal visible to human eye and/or camera. PMID:27421627

  17. Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ohana, Mickael [Nouvel Hopital Civil - Hopitaux Universitaires de Strasbourg, Service de Radiologie B, Strasbourg (France); Durand, Marie-Christine [AP-HP - Hopital Raymond Poincare, Service de Neurologie, Garches (France); Marty, Catherine; Lazareth, Jean-Philippe [AP-HP - Hopital Raymond Poincare, Service de Rhumatologie, Garches (France); Maisonobe, Thierry [APH-HP - Hopital de la Pitie-Salpetriere, Service de Neuropathologie, Paris (France); Mompoint, Dominique; Carlier, Robert-Yves [AP-HP - Hopital Raymond Poincare, Service de Radiologie, Garches (France)

    2014-08-15

    Bent spine syndrome (BSS), defined as an abnormal forward flexion of the trunk resolving in supine position, is usually related to parkinsonism, but can also be encountered in myopathies. This study evaluates whole-body muscle MRI (WB-mMRI) as a tool for detecting underlying myopathy in non-extrapyramidal BSS. Forty-three patients (90 % women; 53-86 years old) with a non-extrapyramidal BSS were prospectively included. All underwent a 1.5-T WB-mMRI and a nerve conduction study. Muscle biopsy was performed if a myopathy could not be eliminated based on clinical examination and all tests. Systematic MRI interpretation focused on peripheral and axial muscle injury; spinal posture and incidental findings were also reported. WB-mMRI was completed for all patients, with 13 muscle biopsies ultimately needed and myopathy revealed as the final etiological diagnosis in five cases (12 %). All biopsy-proven myopathies were detected by the WB-mMRI. Relevant incidental MRI findings were made in seven patients. This study supports WB-mMRI as a sensitive and feasible tool for detecting myopathy in BSS patients. Associated with electroneuromyography, it can better indicate when a muscle biopsy is needed and guide it when required. Rigorous radiological interpretation is mandatory, so as not to miss incidental findings of clinical consequence. (orig.)

  18. Follicle Detection on the USG Images to Support Determination of Polycystic Ovary Syndrome

    Science.gov (United States)

    Adiwijaya; Purnama, B.; Hasyim, A.; Septiani, M. D.; Wisesty, U. N.; Astuti, W.

    2015-06-01

    Polycystic Ovary Syndrome(PCOS) is the most common endocrine disorders affected to female in their reproductive cycle. This has gained the attention from married couple which affected by infertility. One of the diagnostic criteria considereded by the doctor is analysing manually the ovary USG image to detect the number and size of ovary's follicle. This analysis may affect low varibilites, reproducibility, and efficiency. To overcome this problems. automatic scheme is suggested to detect the follicle on USG image in supporting PCOS diagnosis. The first scheme is determining the initial homogeneous region which will be segmented into real follicle form The next scheme is selecting the appropriate regions to follicle criteria. then measuring the segmented region attribute as the follicle. The measurement remains the number and size that aimed at categorizing the image into the PCOS or non-PCOS. The method used is region growing which includes region-based and seed-based. To measure the follicle diameter. there will be the different method including stereology and euclidean distance. The most optimum system plan to detect PCO is by using region growing and by using euclidean distance on quantification of follicle.

  19. Magnetic resonance elastography in the detection of hepatorenal syndrome in patients with cirrhosis and ascites

    Energy Technology Data Exchange (ETDEWEB)

    Low, Gavin [Cambridge University Hospitals NHS Foundation Trust Hospital, Department of Radiology, Addenbrooke' s Hospital, England (United Kingdom); University of Alberta, Edmonton, Alberta (Canada); University of Cambridge School of Clinical Medicine, Department of Radiology, Cambridge (United Kingdom); Owen, Nicola E.; Alexander, Graeme J.M. [Cambridge University Hospitals NHS Foundation Trust Hospital, Division of Gastroenterology and Hepatology, Addenbrooke' s Hospital, England (United Kingdom); Joubert, Ilse; Patterson, Andrew J.; Graves, Martin J. [Cambridge University Hospitals NHS Foundation Trust Hospital, Department of Radiology, Addenbrooke' s Hospital, England (United Kingdom); Lomas, David J. [Cambridge University Hospitals NHS Foundation Trust Hospital, Department of Radiology, Addenbrooke' s Hospital, England (United Kingdom); University of Cambridge School of Clinical Medicine, Department of Radiology, Cambridge (United Kingdom)

    2015-10-15

    Hepatorenal syndrome (HRS) is the most lethal cause of renal impairment in cirrhosis. Magnetic resonance elastography (MRE) is a diagnostic test that characterises tissues based on their biomechanical properties. The aim of this study was to assess the feasibility of MRE for detecting HRS in cirrhotic patients. A prospective diagnostic investigation was performed. Renal MRE was performed on 21 hospitalised patients with cirrhosis and ascites. Six patients had HRS, one patient had non-HRS renal impairment, and 14 patients had normal renal function. The MRE-measured renal stiffness was compared against the clinical diagnosis as determined by clinical review alongside laboratory and radiologic results. The MRE-measured renal stiffness was significantly lower in patients with HRS (median stiffness of 3.30 kPa at 90 Hz and 2.62 kPa at 60 Hz) compared with patients with normal renal function (median stiffness of 5.08 kPa at 90 Hz and 3.41 kPa at 60 Hz) (P ≤ 0.014). For the detection of HRS, MRE had an area under the receiver operating characteristic curve of 0.94 at 90 Hz and 0.89 at 60 Hz. MRE had excellent inter-rater agreement, as assessed by Bland-Altman and intraclass correlation coefficient (> 0.9). MRE shows potential in the detection of HRS. (orig.)

  20. Syndromic algorithms for detection of gambiense human African trypanosomiasis in South Sudan.

    Directory of Open Access Journals (Sweden)

    Jennifer J Palmer

    Full Text Available BACKGROUND: Active screening by mobile teams is considered the best method for detecting human African trypanosomiasis (HAT caused by Trypanosoma brucei gambiense but the current funding context in many post-conflict countries limits this approach. As an alternative, non-specialist health care workers (HCWs in peripheral health facilities could be trained to identify potential cases who need testing based on their symptoms. We explored the predictive value of syndromic referral algorithms to identify symptomatic cases of HAT among a treatment-seeking population in Nimule, South Sudan. METHODOLOGY/PRINCIPAL FINDINGS: Symptom data from 462 patients (27 cases presenting for a HAT test via passive screening over a 7 month period were collected to construct and evaluate over 14,000 four item syndromic algorithms considered simple enough to be used by peripheral HCWs. For comparison, algorithms developed in other settings were also tested on our data, and a panel of expert HAT clinicians were asked to make referral decisions based on the symptom dataset. The best performing algorithms consisted of three core symptoms (sleep problems, neurological problems and weight loss, with or without a history of oedema, cervical adenopathy or proximity to livestock. They had a sensitivity of 88.9-92.6%, a negative predictive value of up to 98.8% and a positive predictive value in this context of 8.4-8.7%. In terms of sensitivity, these out-performed more complex algorithms identified in other studies, as well as the expert panel. The best-performing algorithm is predicted to identify about 9/10 treatment-seeking HAT cases, though only 1/10 patients referred would test positive. CONCLUSIONS/SIGNIFICANCE: In the absence of regular active screening, improving referrals of HAT patients through other means is essential. Systematic use of syndromic algorithms by peripheral HCWs has the potential to increase case detection and would increase their participation in HAT

  1. Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome

    NARCIS (Netherlands)

    K.S. Boparai; F.J.C. van den Broek; S. van Eeden; P. Fockens; E. Dekker

    2011-01-01

    Hyperplastic polyposis syndrome (HPS) is associated with colorectal cancer and is characterized by multiple hyperplastic polyps, sessile serrated adenomas (SSAs) and adenomas. Narrow band imaging (NBI) may improve the detection of polyps in HPS. We aimed to compare polyp miss rates with NBI with tho

  2. Detection of imprinting mutations in Angelman syndrome using a probe for exon {alpha} of SNRPN

    Energy Technology Data Exchange (ETDEWEB)

    Beuten, J.; Sutcliffe, J.S.; Casey, B.M. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1996-05-17

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct clinical disorders resulting from deficiency of paternal (PWS) or maternal (AS) expression of imprinted genes within chromosome 15q11-q13. 15 refs., 1 fig.

  3. First Detection of Bat White-Nose Syndrome in Western North America.

    Science.gov (United States)

    Lorch, Jeffrey M; Palmer, Jonathan M; Lindner, Daniel L; Ballmann, Anne E; George, Kyle G; Griffin, Kathryn; Knowles, Susan; Huckabee, John R; Haman, Katherine H; Anderson, Christopher D; Becker, Penny A; Buchanan, Joseph B; Foster, Jeffrey T; Blehert, David S

    2016-01-01

    White-nose syndrome (WNS) is an emerging fungal disease of bats caused by Pseudogymnoascus destructans. Since it was first detected near Albany, NY, in 2006, the fungus has spread across eastern North America, killing unprecedented numbers of hibernating bats. The devastating impacts of WNS on Nearctic bat species are attributed to the likely introduction of P. destructans from Eurasia to naive host populations in eastern North America. Since 2006, the disease has spread in a gradual wavelike pattern consistent with introduction of the pathogen at a single location. Here, we describe the first detection of P. destructans in western North America in a little brown bat (Myotis lucifugus) from near Seattle, WA, far from the previously recognized geographic distribution of the fungus. Whole-genome sequencing and phylogenetic analyses indicated that the isolate of P. destructans from Washington grouped with other isolates of a presumed clonal lineage from the eastern United States. Thus, the occurrence of P. destructans in Washington does not likely represent a novel introduction of the fungus from Eurasia, and the lack of intensive surveillance in the western United States makes it difficult to interpret whether the occurrence of P. destructans in the Pacific Northwest is disjunct from that in eastern North America. Although there is uncertainty surrounding the impacts of WNS in the Pacific Northwest, the presence of the pathogen in western North America could have major consequences for bat conservation. IMPORTANCE White-nose syndrome (WNS) represents one of the most consequential wildlife diseases of modern times. Since it was first documented in New York in 2006, the disease has killed millions of bats and threatens several formerly abundant species with extirpation or extinction. The spread of WNS in eastern North America has been relatively gradual, inducing optimism that disease mitigation strategies could be established in time to conserve bats susceptible

  4. First detection of bat white-nose syndrome in western North America

    Science.gov (United States)

    Lorch, Jeffrey M.; Palmer, Jonathan M.; Lindner, Daniel L.; Ballmann, Anne; George, Kyle; Griffin, Kathryn M.; Knowles, Susan N.; Huckabee, John R; Haman, Katherine H; Anderson, Christopher D.; Becker, Penny A; Buchanan, Joseph B.; Foster, Jeffrey T.; Blehert, David

    2016-01-01

    White-nose syndrome (WNS) is an emerging fungal disease of bats caused byPseudogymnoascus destructans. Since it was first detected near Albany, NY, in 2006, the fungus has spread across eastern North America, killing unprecedented numbers of hibernating bats. The devastating impacts of WNS on Nearctic bat species are attributed to the likely introduction ofP. destructans from Eurasia to naive host populations in eastern North America. Since 2006, the disease has spread in a gradual wavelike pattern consistent with introduction of the pathogen at a single location. Here, we describe the first detection of P. destructans in western North America in a little brown bat (Myotis lucifugus) from near Seattle, WA, far from the previously recognized geographic distribution of the fungus. Whole-genome sequencing and phylogenetic analyses indicated that the isolate of P. destructans from Washington grouped with other isolates of a presumed clonal lineage from the eastern United States. Thus, the occurrence of P. destructans in Washington does not likely represent a novel introduction of the fungus from Eurasia, and the lack of intensive surveillance in the western United States makes it difficult to interpret whether the occurrence of P. destructans in the Pacific Northwest is disjunct from that in eastern North America. Although there is uncertainty surrounding the impacts of WNS in the Pacific Northwest, the presence of the pathogen in western North America could have major consequences for bat conservation.

  5. Detection of Severe Acute Respiratory Syndrome-Like, Middle East Respiratory Syndrome-Like Bat Coronaviruses and Group H Rotavirus in Faeces of Korean Bats.

    Science.gov (United States)

    Kim, H K; Yoon, S-W; Kim, D-J; Koo, B-S; Noh, J Y; Kim, J H; Choi, Y G; Na, W; Chang, K-T; Song, D; Jeong, D G

    2016-08-01

    Bat species around the world have recently been recognized as major reservoirs of several zoonotic viruses, such as severe acute respiratory syndrome coronavirus (SARS-CoV), Middle East respiratory syndrome coronavirus (MERS-CoV), Nipah virus and Hendra virus. In this study, consensus primer-based reverse transcriptase polymerase chain reactions (RT-PCRs) and high-throughput sequencing were performed to investigate viruses in bat faecal samples collected at 11 natural bat habitat sites from July to December 2015 in Korea. Diverse coronaviruses were first detected in Korean bat faeces, including alphacoronaviruses, SARS-CoV-like and MERS-CoV-like betacoronaviruses. In addition, we identified a novel bat rotavirus belonging to group H rotavirus which has only been described in human and pigs until now. Therefore, our results suggest the need for continuing surveillance and additional virological studies in domestic bat. PMID:27213718

  6. Development of a Liquid Chip Technique to Simultaneously Detect Taura Syndrome Virus( TSV) and Yellow Head Disease Virus( YHDV)

    Institute of Scientific and Technical Information of China (English)

    Yin; Weili; Zhang; Sihua; Yue; Zhiqin; Zheng; Xiaolong; Liu; Hong

    2014-01-01

    The aim is to develop a liquid chip technique to detect Taura syndrome virus( TSV) and yellow head disease virus( YHDV) on Penaeus orientalis simultaneously. The CP2 gene of TSV and N gene of YHDV in Gen Bank was analysed by using the software DNAStar 7. 0 to design the TSV-and YHDV-specific primers. The primers were labeled with biotin and subjected to amination modification. They were then coupled with fluorescence-coded microspheres and then used for hybridization with RT- PCR products of TSV and YHDV. The liquid chip detection technique for detection of TSV and YHDV was established by using BD FACSArray to detect fluorescence signal in the reaction system. This assay system had a high sensitivity to TSV and YHDV,with the detection of limit of 100 pg. Moreover,the assay was specific for the detection of TSV,YHDV and was not susceptible to cross with other viruses,including white spot syndrome virus( WSSV),spring viremia of carp virus( SVCV),infectious haematopoietic necrosis virus( IHNV). In conclusion,the liquid chip assay technique established in this study is highly sensitive and specific to TSV and YHDV detection. Moreover,it provides a novel,convenient and rapid approach for the detection of TSV and YHDV.

  7. Angelman syndrome: Validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection

    Energy Technology Data Exchange (ETDEWEB)

    White, L.; Knoll, J.H.M. [Harvard Medical School, Boston, MA (United States)

    1995-03-13

    In a series of 18 individuals comprising parents of Angelman syndrome (AS) patients and AS patients with large deletions, microdeletions, and no deletions, we utilized fluorescence in situ hybridization (FISH) with genomic phage clones for loci D15S63 and GABRB3 for deletion detection of chromosome 15q11-q13. Utilization of probes at these loci allows detection of common large deletions and permits discrimination of less common small deletions. In all individuals the molecular cytogenetic data were concordant with the DNA deletion analyses. FISH provides an accurate method of deletion detection for chromosome 15q11-q13. 23 refs., 2 figs., 1 tab.

  8. Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome.

    Directory of Open Access Journals (Sweden)

    Dana W Y Tsui

    Full Text Available BACKGROUND: Noninvasive prenatal diagnosis of fetal aneuploidy by maternal plasma analysis is challenging owing to the low fractional and absolute concentrations of fetal DNA in maternal plasma. Previously, we demonstrated for the first time that fetal DNA in maternal plasma could be specifically targeted by epigenetic (DNA methylation signatures in the placenta. By comparing one such methylated fetal epigenetic marker located on chromosome 21 with another fetal genetic marker located on a reference chromosome in maternal plasma, we could infer the relative dosage of fetal chromosome 21 and noninvasively detect fetal trisomy 21. Here we apply this epigenetic-genetic (EGG chromosome dosage approach to detect Edwards syndrome (trisomy 18 in the fetus noninvasively. PRINCIPAL FINDINGS: We have systematically identified methylated fetal epigenetic markers on chromosome 18 by methylated DNA immunoprecipitation (MeDIP and tiling array analysis with confirmation using quantitative DNA methylation assays. Methylated DNA sequences from an intergenic region between the VAPA and APCDD1 genes (the VAPA-APCDD1 DNA were detected in pre-delivery, but not post-delivery, maternal plasma samples. The concentrations correlated positively with those of an established fetal genetic marker, ZFY, in pre-delivery maternal plasma. The ratios of methylated VAPA-APCDD1(chr18 to ZFY(chrY were higher in maternal plasma samples of 9 male trisomy 18 fetuses than those of 27 male euploid fetuses (Mann-Whitney test, P=0.029. We defined the cutoff value for detecting trisomy 18 fetuses as mean+1.96 SD of the EGG ratios of the euploid cases. Eight of 9 trisomy 18 and 1 of 27 euploid cases showed EGG ratios higher than the cutoff value, giving a sensitivity of 88.9% and a specificity of 96.3%. CONCLUSIONS: Our data have shown that the methylated VAPA-APCDD1 DNA in maternal plasma is predominantly derived from the fetus. We have demonstrated that this novel fetal epigenetic marker

  9. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

    DEFF Research Database (Denmark)

    Boyd, P A; Devigan, C; Khoshnood, B;

    2008-01-01

    screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. METHODS: (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural...... tube defects (NTDs) using the EUROCAT database. MAIN OUTCOME MEASURES: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. RESULTS: Ten of the 18 countries had a national country-wide policy for Down...... associated with wide country variation in prenatal detection rates for Down's syndrome and NTD....

  10. DNAemia detection by multiplex PCR and biomarkers for infection in systemic inflammatory response syndrome patients.

    Directory of Open Access Journals (Sweden)

    Catherine Fitting

    Full Text Available Fast and reliable assays to precisely define the nature of the infectious agents causing sepsis are eagerly anticipated. New molecular biology techniques are now available to define the presence of bacterial or fungal DNA within the bloodstream of sepsis patients. We have used a new technique (VYOO® that allows the enrichment of microbial DNA before a multiplex polymerase chain reaction (PCR for pathogen detection provided by SIRS-Lab (Jena, Germany. We analyzed 72 sepsis patients and 14 non-infectious systemic inflammatory response syndrome (SIRS patients. Among the sepsis patients, 20 had a positive blood culture and 35 had a positive microbiology in other biological samples. Of these, 51.4% were positive using the VYOO® test. Among the sepsis patients with a negative microbiology and the non-infectious SIRS, 29.4% and 14.2% were positive with the VYOO® test, respectively. The concordance in bacterial identification between microbiology and the VYOO® test was 46.2%. This study demonstrates that these new technologies offer great hopes, but improvements are still needed.

  11. Sonographic Wrist Measurements and Detection of Anatomical Features in Carpal Tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Vögelin

    2014-01-01

    Full Text Available Introduction. This study compares anatomical findings at wrist level in patients with known carpal tunnel syndrome (CTS and controls by ultrasonography (US. Material and Methods. Wrist-US investigations of 28 consecutive patients with 38 diagnosed, idiopathic CTS were compared to 49 healthy volunteers without history of CTS. Internal wrists dimensions, the presence of flexor muscle bellies in the carpal tunnel, and cross-sectional area of the median nerve were analyzed. The findings were correlated to gender, age, and BMI. Results. US demonstrated a square internal carpal tunnel configuration in CTS patients compared to controls (P<0.001. Patients with CTS showed a trend towards the presence of flexor muscles bellies in the carpal tunnel (odds ratio 1.77, 95% CI 0.337–8.33. CTS was present in women with higher BMI (P=0.015. Conclusion. US allowed detection of specific anatomical features at wrist level in CTS patients. This observation may enable—following confirmation in larger prospective studies—risk evaluation for CTS development.

  12. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

    Directory of Open Access Journals (Sweden)

    William J Tapper

    Full Text Available Two megalencephaly (MEG syndromes, megalencephaly-capillary malformation (MCAP and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH, have recently been defined on the basis of physical and neuroimaging features. Subsequently, exome sequencing of ten MEG cases identified de-novo postzygotic mutations in PIK3CA which cause MCAP and de-novo mutations in AKT and PIK3R2 which cause MPPH. Here we present findings from exome sequencing three unrelated megalencephaly patients which identified a causal PIK3CA mutation in two cases and a causal PIK3R2 mutation in the third case. However, our patient with the PIK3R2 mutation which is considered to cause MPPH has a marked bifrontal band heterotopia which is a feature of MCAP. Furthermore, one of our patients with a PIK3CA mutation lacks syndactyly/polydactyly which is a characteristic of MCAP. These findings suggest that the overlap between MCAP and MPPH may be greater than the available studies suggest. In addition, the PIK3CA mutation in one of our patients could not be detected using standard exome analysis because the mutation was observed at a low frequency consistent with somatic mosaicism. We have therefore investigated several alternative methods of exome analysis and demonstrate that alteration of the initial allele frequency spectrum (AFS, used as a prior for variant calling in samtools, had the greatest power to detect variants with low mutant allele frequencies in our 3 MEG exomes and in simulated data. We therefore recommend non-default settings of the AFS in combination with stringent quality control when searching for causal mutation(s that could have low levels of mutant reads due to post-zygotic mutation.

  13. Pelvic congestion syndrome initially detected by contrast enhanced F 18 FDG PET/CT

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Dae Weung; Kim, Myoung Hyoung; Kim, Woo Hyoung; Kim, Chang Guhn [Wonkwang Univ. School of Medicine, Iksan (Korea, Republic of)

    2012-03-15

    Pelvic congestion syndrome (PCS) is said to occur as a result of retrograde flow in an incompetent ovarian vein. Ovarian vein incompetence is seen in approximately 10% of women, and up to 60% with this abnormality can develop PCS. The etiology of PCS is poorly understood and is likely to be multifactorial. Absence of ovarian vein valves is an important factor in its development. The causes of ovarian varicoceles are multifactorial, involving both mechanical and hormonal factors. Dilatation of the ovarian veins can result in vascular incompetence and retrograde blood flow. On either CT or magnetic resonance (MR) imaging studies, pelvic varices in PCS appear as dilated, tortuous, enhancing tubular structures near the ovaries and uterus. In addition, the extension of varices to the broad ligament and paravaginal venous plexus can be appreciated. With CT, the tubular nature of these structures and the pattern of enhancement after intravenous contrast medium administration distinguish them from lymphadenopathy or adnexal masses. Unlike such masses, pelvic varices appear isodense with other veins after contrast enhancement. Contrast enhanced CT data as part of the combined PET/CT examination provide additional information when compared with non enhanced PET/CT. Because CT data supply the anatomic background for PET, the most important benefit relates to more precise anatomic localization of pathology by differentiation of the lesion from its surrounding structures. By supporting lesion detection and characterization, CT contrast agents can be of additional value in F 18 FDG non avid disease. As in the presented case, careful review of CT images in contrast enhanced PET/CT enables the detection of F 18 FDG non avid disease such as PCS. As contrast enhanced F 18 FDG PET/CT had been performed frequently, being familiar with the findings of PCS on the contrast enhanced CT images would have been helpful for the nuclear medicine physicians.

  14. Contributing to the Early Detection of Rett Syndrome: The Potential Role of Auditory Gestalt Perception

    Science.gov (United States)

    Marschik, Peter B.; Einspieler, Christa; Sigafoos, Jeff

    2012-01-01

    To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or…

  15. Comparison of a commercial ELISA and an immunoperoxidase monolayer assay to detect antibodies directed against porcine respiratory and reproductive syndrome virus

    NARCIS (Netherlands)

    Nodelijk, G.; Wensvoort, G.; Kroese, B.; Leengoed, van L.A.M.G.; Colijn, E.; Verheijden, J.H.M.

    1996-01-01

    A commercially available enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies against porcine respiratory and reproductive syndrome virus (PRRSV) was compared to an immunoperoxidase monolayer assay (IPMA). Serum samples used were collected from pigs experimentally infected with

  16. Detection of a pneumonia virus of mice (PVM) in an African hedgehog (Atelerix arbiventris) with suspected wobbly hedgehog syndrome (WHS).

    Science.gov (United States)

    Madarame, Hiroo; Ogihara, Kikumi; Kimura, Moe; Nagai, Makoto; Omatsu, Tsutomu; Ochiai, Hideharu; Mizutani, Tetsyuya

    2014-09-17

    A pneumonia virus of mice (PVM) from an African hedgehog (Atelerix arbiventris) with suspected wobbly hedgehog syndrome (WHS) was detected and genetically characterized. The affected hedgehog had a nonsuppurative encephalitis with vacuolization of the white matter, and the brain samples yielded RNA reads highly homogeneous to PVM strain 15 (96.5% of full genomic sequence homology by analysis of next generation sequencing). PVM antigen was also detected in the brain and the lungs immunohistochemically. A PVM was strongly suggested as a causative agent of encephalitis of a hedgehog with suspected WHS. This is a first report of PVM infection in hedgehogs. PMID:25129384

  17. Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.

    Science.gov (United States)

    Kanduc, Darja

    2010-01-01

    We searched the primary sequence of influenza A H5N1 polyprotein for hexamer amino acid sequences shared with human proteins using the Protein International Resource database and the exact peptide matching analysis program. We find that the viral polyprotein shares numerous hexapeptides with the human proteome. The human proteins involved in the viral overlap are represented by antigens associated with basic cell functions such as proliferation, development, and differentiation. Of special importance, many human proteins that share peptide sequences with influenza A polyprotein are antigens such as reelin, neurexin I-α, myosin-IXa, Bardet-Biedl syndrome 10 protein, Williams syndrome transcription factor, disrupted in schizophrenia 1 protein, amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein, fragile X mental retardation 2 protein, and jouberin. That is, the viral-vs-human overlap involves human proteins that, when altered, have been reported to be potentially associated with multiple neurological disorders that can include autism, epilepsy, obesity, dystonia, ataxia-telangiectasia, amyotrophic lateral sclerosis, sensorineural deafness, sudden infant death syndrome, Charcot-Marie-Tooth disease, and myelination. The present data are discussed as a possible molecular basis for understanding influenza A viral escape from immunosurveillance and for defining anti-influenza immune-therapeutic approaches devoid of collateral adverse events. PMID:20859452

  18. Contributing to the early detection of Rett syndrome: The potential role of auditory Gestalt perception

    OpenAIRE

    Marschik, Peter B.; Einspieler, Christa; Sigafoos, Jeff

    2012-01-01

    To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian–German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The results showed that participants were accurate in differentiating the vocalizations of typically devel...

  19. Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome

    OpenAIRE

    Halley, Dicky; Ouweland, Ans; Deelen, Wouter; Verma, Chandra; Oostra, Ben

    1994-01-01

    textabstractPrenatal diagnosis of fragile X syndrome identifying full mutations has been described. Here we report on a case of a prenatal test concerning a normal male carrier of the fragile X syndrome. Southern blot analysis of the fragile X gene resulted in the identification of a premutation in DNA isolated from the chorionic villus sample. Using a polymerase chain reaction (PCR)based assay the CGG repeat length was determined to be 82 CGG repeat units. Confirmation of this premutation in...

  20. Detection of early glaucomatous damage in pseudo exfoliation syndrome by assessment of retinal nerve fiber layer thickness

    Directory of Open Access Journals (Sweden)

    Mohamed Maha

    2009-01-01

    Full Text Available Purpose : To detect early glaucomatous changes in pseudo exfoliative patients with normal intraocular pressure (IOP, visual field and optic nerve head appearance; by measuring retinal nerve fiber layer (RNFL thickness using optical coherence tomography (OCT. Design : A prospective observational case-control study. Participants : Twenty non-glaucomatous (normal IOP, fundus and visual field pseudo exfoliative patients and 20 age matched healthy control subjects. Materials and Methods : The RNFL thickness (global and four quadrants was assessed using combined imaging system OTI (OCT/SLO and compared with age matched normal control subjects. Results : The RNFL in patients with pseudo exfoliation syndrome (PXS was significantly thinner in all quadrants except the nasal quadrant compared to the control group (p less than 0.05. Conclusion : Measurement of RNFL thickness by OCT is useful in detecting early RNFL damage which in turn provides clinically relevant information in detecting early glaucomatous changes in pseudo exfoliative patients.

  1. [Qualitative and quantitative detection of bacterial flora in experimental blind loop syndrome of the rat].

    Science.gov (United States)

    Menge, H; Simes, G; Germer, C T; Wagner, J; Hahn, H; Riecken, E O

    1985-08-01

    In the blind loop syndrome bacterial overgrowth--accompanied by an increase in bile acid deconjugation--is thought to be responsible for the observed morphological alterations of the small intestinal mucosa with its concomitant malabsorption syndrome. Since in this chain of events the bacterial overgrowth is of primary importance, we have performed a complete qualitative and quantitative evaluation of the intraluminal flora in rats with surgically created self-filling blind loops. The results show a significant increase in bacteria of the aerobic growing genera E. coli and Streptococcus (Enterococcus), and of the anaerobic growing genus Bacteroides, in one single rat also of the genera Lactobacillus/Bifidobacterium. In order to elucidate which strains of bacteria are predominantly responsible for the morphological and functional alterations observed in the stagnant loop syndrome, germ-free rats with self-filling blind loops should be contaminated selectively with bacteria of these genera.

  2. Rapid and sensitive PCR detection of Vibrio penaeicida, the putative etiological agent of syndrome 93 in New Caledonia.

    Science.gov (United States)

    Saulnier, D; Avarre, J C; Le Moullac, G; Ansquer, D; Levy, P; Vonau, V

    2000-03-14

    Experimental infections of Penaeus (Litopenaeus) stylirostris were performed with a Vibrio penaeicida strain (AM101) isolated in New Caledonia from Syndrome 93 diseased shrimp. Cumulative mortalities resulting from intramuscular injection or immersion of shrimp in bacterial suspensions demonstrated high virulence for this bacterial strain and suggested that V. penaeicida could be the etiological agent of Syndrome 93. The median lethal dose (LD50) for AM101 was 1.3 x 10(4) CFU (colony forming units) ml-1 by immersion and less than 5 CFU shrimp-1 by intramuscular challenge, with mortality outbreaks at 48 and 22 h after challenge, respectively. A polymerase chain reaction (PCR) detection assay using a primer set designed from the 16S ribosomal RNA gene of V. penaeicida was developed. It gave an expected amplicon of approximately 310 bp in ethidium bromide-stained agarose gels. The specificity of these primers was assessed with different Vibrio species. Furthermore, DNA extracted by the Chelex method could be used to detect fewer than 20 cultured Vibrio cells in sea-water or shrimp hemolymph by this assay. It appears to be a reliable screening method for detecting V. penaeicida in shrimp and from the aquatic environment. PMID:10782344

  3. Additional Detection of Multiple Osteomas in a Patient with Gardner's Syndrome by Bone SPECT/CT

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Woo Hyoung; Kim, Daeweung; Kim, Chang Guhn; Kim, Myoung Hyoun [Wonkwang Univ. School of Medicine, Iksan (Korea, Republic of)

    2013-12-15

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which generally develops numerous polyps in the colon and rectum during the second decade of life. Gardner's syndrome is a variant of FAP which has multiple osteomas, dental abnormalities, and fibromas, with incidence ranging between 1 in 4,000 and 1 in 40,000, depending on the region. We present the case of a 35-year-old man referred to our department for bone scintigraphy who was shown to have multiple colon polyps and nuchal type fibroma. In this patient, planar image showed intensely increased uptakes of bone agent in the maxilla and mandible, which are typical findings of Gardner's syndrome. Single photon emission computed tomography/computed tomography (SPECT/CT) was acquired to accurately identify and locate abnormal uptakes detected on planar images. SPECT/CT showed numerous osteomas in the maxilla and mandible where intense uptakes of bone agent were seen. Mildly asymmetrical, focally increased uptake in the superomedial aspect of the left orbit on anterior planar image was shown to be a fontal sinus osteoma on SPECT/CT. Enhanced sensitivity of detecting lesions of SPECT/CT superior to planar scintigraphy has been reported in previous studies. In this report, additional osteomas of sphenoidal and ethmoidal sinuses, which were not seen on planar scintigraphy, were detected by SPECT/CT. This case emphasizes that nuclear physicians should be aware of the typical findings of bone scintigraphy for Gardner's syndrome and also that SPECT/CT could be helpful to diagnose additional lesions not seen on planar images.

  4. Detection of apoptosis in kidney biopsies of patients with D+ hemolytic uremic syndrome.

    NARCIS (Netherlands)

    Loo, D.M.W.M. te; Monnens, L.A.H.; Heuvel, L.P.W.J. van den; Gubler, M.C.; Kockx, M.M.

    2001-01-01

    In this study we have investigated the presence of apoptotic cells in renal biopsy material of seven patients with hemolytic uremic syndrome (HUS) by using an improved and stringent terminal deoxynucleotidyl nick-end labeling (TUNEL) technique. Renal biopsy material was taken in the second or third

  5. Diagnostic accuracy of nocturnal oximetry for detection of sleep apnea syndrome in stroke rehabilitation

    NARCIS (Netherlands)

    J.A. Aaronson; T. van Bezeij; J.G. van den Aardweg; C.A.M. van Bennekom; W.F. Hofman

    2012-01-01

    Background and Purpose—Sleep apnea syndrome (SAS) is a common sleep disorder in stroke patients and is associated with decreased recovery and increased risk of recurrent stroke and mortality. The standard diagnostic test for SAS is poly(somno)graphy, but this is often not feasible in stroke rehabili

  6. Faux Pas Detection and Intentional Action in Asperger Syndrome. A Replication on a French Sample

    Science.gov (United States)

    Zalla, Tiziana; Sav, Anca-Maria; Stopin, Astrid; Ahade, Sabrina; Leboyer, Marion

    2009-01-01

    In the present study, we investigated mindreading abilities in a group of adults with Asperger Syndrome (AS) by using the faux pas task, an advanced test of theory of mind (Baron-Cohen et al. (1999). "Journal of Autism and Developmental Disorders, 29," 407-418). The faux pas is a particular case of a non-intentional action reflecting an…

  7. Detection of metabolic syndrome features among childhood cancer survivors: A target to prevent disease

    Directory of Open Access Journals (Sweden)

    Adriana Aparecida Siviero-Miachon

    2008-08-01

    Full Text Available Adriana Aparecida Siviero-Miachon1, Angela Maria Spinola-Castro1, Gil Guerra-Junior21Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo – UNIFESP/EPM, Brazil; 2Division of Pediatric Endocrinology, Department of Pediatrics, State University of Campinas – FCM/UNICAMP, BrazilAbstract: Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure, drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. In conclusion, some primary and secondary prevention remarks are proposed in order to reduce premature cardiovascular disease risk in this particular group of patients.Keywords: metabolic syndrome X, cardiovascular diseases, insulin resistance, obesity, growth hormone

  8. Identification and characterization of a novel allele of Caenorhabditis elegans bbs-7.

    Directory of Open Access Journals (Sweden)

    Kara Braunreiter

    Full Text Available Primary cilia play a role in the sensation of and response to the surrounding environment. Caenorhabditis elegans (C. elegans have primary cilia only on the distal tips of some dendrites. In order to better understand the relationship between receptor localization to cilia, cilia structure and cilia function, we have characterized a mutation originally identified in a forward genetic screen for mutants with defective PKD-2 ciliary localization. Through behavioral assays and examination of the structure of cilia in the cil-5 (my13 mutant animals, we have found that my13 disrupts not only receptor localization, but also some cilia-mediated sensory behaviors and cilia structural integrity. We have identified the my13 lesion and found that it is a missense mutation in bbs-7, an ortholog of human BBS-7, a gene known to affect human cilia and to be involved in Bardet-Biedl syndrome. Finally, we show that bbs-7(my13 also affects the glia cells which support the cilia.

  9. Functional coordination of intraflagellar transport motors.

    Science.gov (United States)

    Ou, Guangshuo; Blacque, Oliver E; Snow, Joshua J; Leroux, Michel R; Scholey, Jonathan M

    2005-07-28

    Cilia have diverse roles in motility and sensory reception, and defects in cilia function contribute to ciliary diseases such as Bardet-Biedl syndrome (BBS). Intraflagellar transport (IFT) motors assemble and maintain cilia by transporting ciliary precursors, bound to protein complexes called IFT particles, from the base of the cilium to their site of incorporation at the distal tip. In Caenorhabditis elegans, this is accomplished by two IFT motors, kinesin-II and osmotic avoidance defective (OSM)-3 kinesin, which cooperate to form two sequential anterograde IFT pathways that build distinct parts of cilia. By observing the movement of fluorescent IFT motors and IFT particles along the cilia of numerous ciliary mutants, we identified three genes whose protein products mediate the functional coordination of these motors. The BBS proteins BBS-7 and BBS-8 are required to stabilize complexes of IFT particles containing both of the IFT motors, because IFT particles in bbs-7 and bbs-8 mutants break down into two subcomplexes, IFT-A and IFT-B, which are moved separately by kinesin-II and OSM-3 kinesin, respectively. A conserved ciliary protein, DYF-1, is specifically required for OSM-3 kinesin to dock onto and move IFT particles, because OSM-3 kinesin is inactive and intact IFT particles are moved by kinesin-II alone in dyf-1 mutants. These findings implicate BBS ciliary disease proteins and an OSM-3 kinesin activator in the formation of two IFT pathways that build functional cilia. PMID:16049494

  10. An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

    Directory of Open Access Journals (Sweden)

    Chunmei Li

    2008-03-01

    Full Text Available MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1, but whose cellular function(s remains unknown. Here we demonstrate that the C. elegans MIP-T3 ortholog DYF-11 is an intraflagellar transport (IFT protein that plays a critical role in assembling functional kinesin motor-IFT particle complexes. We have cloned a loss of function dyf-11 mutant in which several key components of the IFT machinery, including Kinesin-II, as well as IFT subcomplex A and B proteins, fail to enter ciliary axonemes and/or mislocalize, resulting in compromised ciliary structures and sensory functions, and abnormal lipid accumulation. Analyses in different mutant backgrounds further suggest that DYF-11 functions as a novel component of IFT subcomplex B. Consistent with an evolutionarily conserved cilia-associated role, mammalian MIP-T3 localizes to basal bodies and cilia, and zebrafish mipt3 functions synergistically with the Bardet-Biedl syndrome protein Bbs4 to ensure proper gastrulation, a key cilium- and basal body-dependent developmental process. Our findings therefore implicate MIP-T3 in a previously unknown but critical role in cilium biogenesis and further highlight the emerging role of this organelle in vertebrate development.

  11. Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles.

    Science.gov (United States)

    Ou, Guangshuo; Koga, Makato; Blacque, Oliver E; Murayama, Takashi; Ohshima, Yasumi; Schafer, Jenny C; Li, Chunmei; Yoder, Bradley K; Leroux, Michel R; Scholey, Jonathan M

    2007-05-01

    Sensory cilium biogenesis within Caenorhabditis elegans neurons depends on the kinesin-2-dependent intraflagellar transport (IFT) of ciliary precursors associated with IFT particles to the axoneme tip. Here we analyzed the molecular organization of the IFT machinery by comparing the in vivo transport and phenotypic profiles of multiple proteins involved in IFT and ciliogenesis. Based on their motility in wild-type and bbs (Bardet-Biedl syndrome) mutants, IFT proteins were classified into groups with similar transport profiles that we refer to as "modules." We also analyzed the distribution and transport of fluorescent IFT particles in multiple known ciliary mutants and 49 new ciliary mutants. Most of the latter mutants were snip-SNP mapped and one, namely dyf-14(ks69), was cloned and found to encode a conserved protein essential for ciliogenesis. The products of these ciliogenesis genes could also be assigned to the aforementioned set of modules or to specific aspects of ciliogenesis, based on IFT particle dynamics and ciliary mutant phenotypes. Although binding assays would be required to confirm direct physical interactions, the results are consistent with the hypothesis that the C. elegans IFT machinery has a modular design, consisting of modules IFT-subcomplex A, IFT-subcomplex B, and a BBS protein complex, in addition to motor and cargo modules, with each module contributing to distinct functional aspects of IFT or ciliogenesis. PMID:17314406

  12. Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia.

    Science.gov (United States)

    Efimenko, Evgeni; Blacque, Oliver E; Ou, Guangshuo; Haycraft, Courtney J; Yoder, Bradley K; Scholey, Jonathan M; Leroux, Michel R; Swoboda, Peter

    2006-11-01

    The intraflagellar transport (IFT) machinery required to build functional cilia consists of a multisubunit complex whose molecular composition, organization, and function are poorly understood. Here, we describe a novel tryptophan-aspartic acid (WD) repeat (WDR) containing IFT protein from Caenorhabditis elegans, DYF-2, that plays a critical role in maintaining the structural and functional integrity of the IFT machinery. We determined the identity of the dyf-2 gene by transgenic rescue of mutant phenotypes and by sequencing of mutant alleles. Loss of DYF-2 function selectively affects the assembly and motility of different IFT components and leads to defects in cilia structure and chemosensation in the nematode. Based on these observations, and the analysis of DYF-2 movement in a Bardet-Biedl syndrome mutant with partially disrupted IFT particles, we conclude that DYF-2 can associate with IFT particle complex B. At the same time, mutations in dyf-2 can interfere with the function of complex A components, suggesting an important role of this protein in the assembly of the IFT particle as a whole. Importantly, the mouse orthologue of DYF-2, WDR19, also localizes to cilia, pointing to an important evolutionarily conserved role for this WDR protein in cilia development and function. PMID:16957054

  13. An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

    Science.gov (United States)

    Li, Chunmei; Inglis, Peter N; Leitch, Carmen C; Efimenko, Evgeni; Zaghloul, Norann A; Mok, Calvin A; Davis, Erica E; Bialas, Nathan J; Healey, Michael P; Héon, Elise; Zhen, Mei; Swoboda, Peter; Katsanis, Nicholas; Leroux, Michel R

    2008-03-01

    MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1), but whose cellular function(s) remains unknown. Here we demonstrate that the C. elegans MIP-T3 ortholog DYF-11 is an intraflagellar transport (IFT) protein that plays a critical role in assembling functional kinesin motor-IFT particle complexes. We have cloned a loss of function dyf-11 mutant in which several key components of the IFT machinery, including Kinesin-II, as well as IFT subcomplex A and B proteins, fail to enter ciliary axonemes and/or mislocalize, resulting in compromised ciliary structures and sensory functions, and abnormal lipid accumulation. Analyses in different mutant backgrounds further suggest that DYF-11 functions as a novel component of IFT subcomplex B. Consistent with an evolutionarily conserved cilia-associated role, mammalian MIP-T3 localizes to basal bodies and cilia, and zebrafish mipt3 functions synergistically with the Bardet-Biedl syndrome protein Bbs4 to ensure proper gastrulation, a key cilium- and basal body-dependent developmental process. Our findings therefore implicate MIP-T3 in a previously unknown but critical role in cilium biogenesis and further highlight the emerging role of this organelle in vertebrate development. PMID:18369462

  14. The BBSome controls IFT assembly and turnaround in cilia.

    Science.gov (United States)

    Wei, Qing; Zhang, Yuxia; Li, Yujie; Zhang, Qing; Ling, Kun; Hu, Jinghua

    2012-09-01

    The bidirectional movement of intraflagellar transport (IFT) particles, which are composed of motors, IFT-A and IFT-B subcomplexes, and cargoes, is required for the biogenesis and signalling of cilia(1,2). A successful IFT cycle depends on the proper assembly of the massive IFT particle at the ciliary base and its turnaround from anterograde to retrograde transport at the ciliary tip. However, how IFT assembly and turnaround are regulated in vivo remains elusive. From a whole-genome mutagenesis screen in Caenorhabditis elegans, we identified two hypomorphic mutations in dyf-2 and bbs-1 as the only mutants showing normal anterograde IFT transport but defective IFT turnaround at the ciliary tip. Further analyses revealed that the BBSome (refs 3, 4), a group of conserved proteins affected in human Bardet-Biedl syndrome(5) (BBS), assembles IFT complexes at the ciliary base, then binds to the anterograde IFT particle in a DYF-2- (an orthologue of human WDR19) and BBS-1-dependent manner, and lastly reaches the ciliary tip to regulate proper IFT recycling. Our results identify the BBSome as the key player regulating IFT assembly and turnaround in cilia. PMID:22922713

  15. Functional genomics of the cilium, a sensory organelle.

    Science.gov (United States)

    Blacque, Oliver E; Perens, Elliot A; Boroevich, Keith A; Inglis, Peter N; Li, Chunmei; Warner, Adam; Khattra, Jaswinder; Holt, Rob A; Ou, Guangshuo; Mah, Allan K; McKay, Sheldon J; Huang, Peter; Swoboda, Peter; Jones, Steve J M; Marra, Marco A; Baillie, David L; Moerman, Donald G; Shaham, Shai; Leroux, Michel R

    2005-05-24

    Cilia and flagella play important roles in many physiological processes, including cell and fluid movement, sensory perception, and development. The biogenesis and maintenance of cilia depend on intraflagellar transport (IFT), a motility process that operates bidirectionally along the ciliary axoneme. Disruption in IFT and cilia function causes several human disorders, including polycystic kidneys, retinal dystrophy, neurosensory impairment, and Bardet-Biedl syndrome (BBS). To uncover new ciliary components, including IFT proteins, we compared C. elegans ciliated neuronal and nonciliated cells through serial analysis of gene expression (SAGE) and screened for genes potentially regulated by the ciliogenic transcription factor, DAF-19. Using these complementary approaches, we identified numerous candidate ciliary genes and confirmed the ciliated-cell-specific expression of 14 novel genes. One of these, C27H5.7a, encodes a ciliary protein that undergoes IFT. As with other IFT proteins, its ciliary localization and transport is disrupted by mutations in IFT and bbs genes. Furthermore, we demonstrate that the ciliary structural defect of C. elegans dyf-13(mn396) mutants is caused by a mutation in C27H5.7a. Together, our findings help define a ciliary transcriptome and suggest that DYF-13, an evolutionarily conserved protein, is a novel core IFT component required for cilia function. PMID:15916950

  16. A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish.

    Directory of Open Access Journals (Sweden)

    Yun Hee Kim

    Full Text Available Bardet-Biedl syndrome (BBS and nephronophthisis (NPH are hereditary autosomal recessive disorders, encoded by two families of diverse genes. BBS and NPH display several overlapping phenotypes including cystic kidney disease, retinitis pigmentosa, liver fibrosis, situs inversus and cerebellar defects. Since most of the BBS and NPH proteins localize to cilia and/or their appendages, BBS and NPH are considered ciliopathies. In this study, we characterized the function of the transcription factor Nphp7 in zebrafish, and addressed the molecular connection between BBS and NPH. The knockdown of zebrafish bbs1 and nphp7.2 caused similar phenotypic changes including convergent extension defects, curvature of the body axis, hydrocephalus, abnormal heart looping and cystic pronephros, all consistent with an altered ciliary function. Immunoprecipitation assays revealed a physical interaction between BBS1 and NPHP7, and the simultaneous knockdown of zbbs1 and znphp7.2 enhanced the cystic pronephros phenotype synergistically, suggesting a genetic interaction between zbbs1 and znphp7.2 in vivo. Deletion of zBbs1 or zNphp7.2 did not compromise cilia formation, but disrupted cilia motility. Although NPHP7 has been shown to act as transcriptional repressor, our studies suggest a crosstalk between BBS1 and NPHP7 in regulating normal function of the cilium.

  17. Unraveling the genetics of human obesity.

    Directory of Open Access Journals (Sweden)

    David M Mutch

    2006-12-01

    Full Text Available The use of modern molecular biology tools in deciphering the perturbed biochemistry and physiology underlying the obese state has proven invaluable. Identifying the hypothalamic leptin/melanocortin pathway as critical in many cases of monogenic obesity has permitted targeted, hypothesis-driven experiments to be performed, and has implicated new candidates as causative for previously uncharacterized clinical cases of obesity. Meanwhile, the effects of mutations in the melanocortin-4 receptor gene, for which the obese phenotype varies in the degree of severity among individuals, are now thought to be influenced by one's environmental surroundings. Molecular approaches have revealed that syndromes (Prader-Willi and Bardet-Biedl previously assumed to be controlled by a single gene are, conversely, regulated by multiple elements. Finally, the application of comprehensive profiling technologies coupled with creative statistical analyses has revealed that interactions between genetic and environmental factors are responsible for the common obesity currently challenging many Westernized societies. As such, an improved understanding of the different "types" of obesity not only permits the development of potential therapies, but also proposes novel and often unexpected directions in deciphering the dysfunctional state of obesity.

  18. Hippocampal and cortical primary cilia are required for aversive memory in mice.

    Directory of Open Access Journals (Sweden)

    Nicolas F Berbari

    Full Text Available It has been known for decades that neurons throughout the brain possess solitary, immotile, microtubule based appendages called primary cilia. Only recently have studies tried to address the functions of these cilia and our current understanding remains poor. To determine if neuronal cilia have a role in behavior we specifically disrupted ciliogenesis in the cortex and hippocampus of mice through conditional deletion of the Intraflagellar Transport 88 (Ift88 gene. The effects on learning and memory were analyzed using both Morris Water Maze and fear conditioning paradigms. In comparison to wild type controls, cilia mutants displayed deficits in aversive learning and memory and novel object recognition. Furthermore, hippocampal neurons from mutants displayed an altered paired-pulse response, suggesting that loss of IFT88 can alter synaptic properties. A variety of other behavioral tests showed no significant differences between conditional cilia mutants and controls. This type of conditional allele approach could be used to distinguish which behavioral features of ciliopathies arise due to defects in neural development and which result from altered cell physiology. Ultimately, this could lead to an improved understanding of the basis for the cognitive deficits associated with human cilia disorders such as Bardet-Biedl syndrome, and possibly more common ailments including depression and schizophrenia.

  19. A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish.

    Science.gov (United States)

    Kim, Yun Hee; Epting, Daniel; Slanchev, Krasimir; Engel, Christina; Walz, Gerd; Kramer-Zucker, Albrecht

    2013-01-01

    Bardet-Biedl syndrome (BBS) and nephronophthisis (NPH) are hereditary autosomal recessive disorders, encoded by two families of diverse genes. BBS and NPH display several overlapping phenotypes including cystic kidney disease, retinitis pigmentosa, liver fibrosis, situs inversus and cerebellar defects. Since most of the BBS and NPH proteins localize to cilia and/or their appendages, BBS and NPH are considered ciliopathies. In this study, we characterized the function of the transcription factor Nphp7 in zebrafish, and addressed the molecular connection between BBS and NPH. The knockdown of zebrafish bbs1 and nphp7.2 caused similar phenotypic changes including convergent extension defects, curvature of the body axis, hydrocephalus, abnormal heart looping and cystic pronephros, all consistent with an altered ciliary function. Immunoprecipitation assays revealed a physical interaction between BBS1 and NPHP7, and the simultaneous knockdown of zbbs1 and znphp7.2 enhanced the cystic pronephros phenotype synergistically, suggesting a genetic interaction between zbbs1 and znphp7.2 in vivo. Deletion of zBbs1 or zNphp7.2 did not compromise cilia formation, but disrupted cilia motility. Although NPHP7 has been shown to act as transcriptional repressor, our studies suggest a crosstalk between BBS1 and NPHP7 in regulating normal function of the cilium. PMID:24069149

  20. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.

    Directory of Open Access Journals (Sweden)

    Rannar Airik

    Full Text Available Recessive mutations in the SDCCAG8 gene cause a nephronophthisis-related ciliopathy with Bardet-Biedl syndrome-like features in humans. Our previous characterization of the orthologous Sdccag8gt/gt mouse model recapitulated the retinal-renal disease phenotypes and identified impaired DNA damage response signaling as an underlying disease mechanism in the kidney. However, several other phenotypic and mechanistic features of Sdccag8gt/gt mice remained unexplored. Here we show that Sdccag8gt/gt mice exhibit developmental and structural abnormalities of the skeleton and limbs, suggesting impaired Hedgehog (Hh signaling. Indeed, cell culture studies demonstrate the requirement of SDCCAG8 for ciliogenesis and Hh signaling. Using an affinity proteomics approach, we demonstrate that SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1, of the endosomal sorting complex (RABEP2, ERC1, and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14 at the centrosome. Furthermore, we show that RABEP2 localization at the centrosome is regulated by SDCCAG8. siRNA mediated RABEP2 knockdown in hTERT-RPE1 cells leads to defective ciliogenesis, indicating a critical role for RABEP2 in this process. Together, this study identifies several centrosome-associated proteins as novel SDCCAG8 interaction partners, and provides new insights into the function of SDCCAG8 at this structure.

  1. Detection of shrimp Taura syndrome virus by loop-mediated isothermal amplification using a designed portable multi-channel turbidimeter.

    Science.gov (United States)

    Sappat, Assawapong; Jaroenram, Wansadaj; Puthawibool, Teeranart; Lomas, Tanom; Tuantranont, Adisorn; Kiatpathomchai, Wansika

    2011-08-01

    In this study, a portable turbidimetric end-point detection method was devised and tested for the detection of Taura syndrome virus (TSV) using spectroscopic measurement of a loop-mediated isothermal amplification (LAMP) by-product: magnesium pyrophosphate (Mg(2)P(2)O(7)). The device incorporated a heating block that maintained an optimal temperature of 63°C for the duration of the RT-LAMP reaction. Turbidity of the RT-LAMP by-product was measured when light from a light-emitting diode (LED) passed through the tube to reach a light dependent resistance (LDR) detector. Results revealed that turbidity measurement of the RT-LAMP reactions using this device provided the same detection sensitivity as the agarose gel electrophoresis detection of RT-LAMP and nested RT-PCR (IQ2000™) products. Cross reactions with other shrimp viruses were not found, indicating that the RT-LAMP-turbidity measurement was highly specific to TSV. The combination of 10 min for rapid RNA preparation with 30 min for RT-LAMP amplification followed by turbidity measurement resulted in a total assay time of less than 1h compared to 4-8h for the nested RT-PCR method. RT-LAMP plus turbidity measurement constitutes a platform for the development of more rapid and user-friendly detection of TSV in the field.

  2. Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.

    OpenAIRE

    Batch, J A; Davies, H. R.; Evans, B.A.; Hughes, I. A.; Patterson, M N

    1993-01-01

    The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who had severe genital ambiguity and partial androgen insensitivity were investigated....

  3. Early detection of sensorineural hearing loss in Muckle-Wells-syndrome

    OpenAIRE

    Kuemmerle-Deschner, Jasmin B; Koitschev, Assen; Tyrrell, Pascal N; Plontke, Stefan K.; Deschner, Norbert; Hansmann, Sandra; Ummenhofer, Katharina; Lohse, Peter; Koitschev, Christiane; Benseler, Susanne M.

    2015-01-01

    Background Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The aims of the study were to characterize the spectrum of hearing loss, optimize the otologic assessment for early disease and determine responsiveness to anti-IL-1-therapy regarding...

  4. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  5. Common Carotid Artery Stump Syndrome Due to Mobile Thrombus Detected by Carotid Duplex Ultrasonography.

    Science.gov (United States)

    Omoto, Shusaku; Hasegawa, Yuki; Sakai, Kenichiro; Matsuno, Hiromasa; Arai, Ayumi; Terasawa, Yuka; Mitsumura, Hidetaka; Iguchi, Yasuyuki

    2016-10-01

    Carotid stump syndrome is a cause of recurrent embolic stroke following occlusion of the ipsilateral internal carotid artery. The present report describes a case of recurrent cerebral embolism ipsilateral to a chronically occluded left common carotid artery (CCA), i.e., "CCA stump syndrome." Doppler color flow imaging showed anterograde flow in the left internal and external carotid arteries, which were supplied by collateral flow from the superior thyroid artery inflowing just proximal to the left carotid bifurcation. According to carotid duplex ultrasonography (CDU), a low-echoic mobile thrombus was noted at the distal stump of the occluded CCA, which presumably caused distal embolism. The low-echoic mobile thrombus dramatically changed to a homogenously high-echoic thrombus, and there was no recurrence of stroke after antiplatelet and anticoagulant therapy. This is the first report to demonstrate a CDU-verified temporal change in the thrombus at the stump in CCA stump syndrome. CDU is a noninvasive and useful technique to characterize hemodynamics, thrombus morphology, and the response to therapy. PMID:27567297

  6. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  7. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

    Science.gov (United States)

    Jehee, Fernanda Sarquis; Rosenberg, Carla; Krepischi-Santos, Ana Cristina; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M; Opitz, John M; Passos-Bueno, Maria Rita

    2005-12-15

    FG syndrome is an X-linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1-4, through linkage analysis (Xq13, Xp22.3, and Xp11.4-p11.3) and based on the breakpoints of an X chromosome inversion (Xq11:Xq28), but so far no gene has been identified. We describe a boy with FG syndrome who has an inherited duplication at band Xq22.3 detected by comparative genomic hybridization microarray (Array-CGH). These duplication maps outside all four loci described so far for FG syndrome, representing therefore a new locus, which we propose to be called FGS5. MID2, a gene closely related to MID1, which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient. Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome. We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication.

  8. Detection and typing of highly pathogenic porcine reproductive and respiratory syndrome virus by multiplex real-time rt-PCR.

    Directory of Open Access Journals (Sweden)

    Kerstin Wernike

    Full Text Available Porcine reproductive and respiratory syndrome (PRRS causes economic losses in the pig industry worldwide, and PRRS viruses (PRRSV are classified into the two distinct genotypes "North American (NA, type 2" and "European (EU, type 1". In 2006, a highly pathogenic NA strain of PRRSV (HP-PRRSV, characterized by high fever as well as high morbidity and mortality, emerged in swine farms in China. Therefore, a real-time reverse transcription polymerase chain reaction (RT-qPCR assay specific for HP-PRRSV was developed and combined with type 1- and type 2-specific RT-qPCR systems. Furthermore, an internal control, based on a heterologous RNA, was successfully introduced. This final multiplex PRRSV RT-qPCR, detecting and typing PRRSV, had an analytical sensitivity of less than 200 copies per µl for the type 1-assay and 20 copies per µl for the type 2- and HP assays and a high diagnostic sensitivity. A panel of reference strains and field isolates was reliably detected and samples from an animal trial with a Chinese HP-PRRS strain were used for test validation. The new multiplex PRRSV RT-qPCR system allows for the first time the highly sensitive detection and rapid differentiation of PRRSV of both genotypes as well as the direct detection of HP-PRRSV.

  9. Eshkol–Wachman movement notation in diagnosis: The early detection of Asperger's syndrome

    OpenAIRE

    Teitelbaum, Osnat; Benton, Tom; Shah, Prithvi K; Prince, Andrea; Kelly, Joseph L.; Teitelbaum, Philip

    2004-01-01

    The diagnostic criteria of Asperger's syndrome (AS), considered a part of the autistic spectrum disorder, are still unclear. A critical marker, which distinguishes AS from autism, is the presence of language. The ability of a child with AS to acquire and use language early results in the fact that AS usually is diagnosed much later than autism. Autism is not usually diagnosed until around the age of 3, whereas AS usually is not diagnosed until the child is 6 or 7 years of age. In the present ...

  10. Thalamocortical network activity enables chronic tic detection in humans with Tourette syndrome

    OpenAIRE

    Shute, Jonathan B.; Okun, Michael S.; Opri, Enrico; Molina, Rene; Rossi, P. Justin; Martinez-Ramirez, Daniel; Foote, Kelly D.; Gunduz, Aysegul

    2016-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. Deep brain stimulation (DBS) is an emerging therapy for severe cases of TS. We studied two patients with TS implanted with bilateral Medtronic Activa PC + S DBS devices, capable of chronic recordings, with depth leads in the thalamic centromedian–parafascicular complex (CM-PF) and subdural strips over the precentral gyrus. Low-frequency (1–10 Hz) CM-PF activity was observed during tics, as we...

  11. Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.

    Science.gov (United States)

    Banjara, Hansa; Mungutwar, Varsha; Swarnkar, Neha; Patra, Pradeep

    2016-06-01

    Hearing loss is most common form of genetic hearing disorder. Non-syndromic sensory neural autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutations in GJB2 gene, which encodes the connexin 26 protein, are major cause of NSRD. The aim of this study is directed towards the mutations caused along the connexin 26 gene using blood samples from nonsyndromic deaf children. The study was conducted on 36 congenitally hearing impaired children who visited to our department with complains of hearing loss and reduced speech and whose age was strategies for diagnosis and treatment of these common genetic disorders. PMID:27340645

  12. The eye as a window to rare endocrine disorders

    Directory of Open Access Journals (Sweden)

    Rupali Chopra

    2012-01-01

    Full Text Available The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves′ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman′s syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove′s syndrome, Cushing′s disease, and Addison′s disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner′s, Rothmund′s, and Klinefelter′s syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner′s, Cockayne′s, Wolfram′s, Kearns Sayre′s, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases.

  13. An evaluation of laboratory tests for the detection and differential diagnosis of Cushing's syndrome.

    Science.gov (United States)

    Hankin, M E; Theile, H M; Steinbeck, A W

    1977-03-01

    1. Results of tests for the diagnosis of Cushings syndrome of varoius aetiologies are discussed for twenty-five patients in whom the pathology was established by operation or autopsy. 2. Control values for the urinary excretion of free cortisol, 17-OHCS, Porter-Silber chromogens (P-SC) and 17-OS and plasma levels of P-SC are compared with those for normal subjects. 3. The results indicated that urinary values are within the normal range for some patients with Cushing's syndrome. 4. Plasma levels of P-SC in the morning were within the normal range for the majority and elevated for the rest. 5. Some patients showed day-night variation of plasma P-SC but evening values were above the normal range. 6. The expected response for low dosage dexamethasone was found in all patients tested but unexpected responses followed high dosage in some. 7. Plasma 11-OHCS in the five patients tested failed to respond to insulin induced hypoglycaemia. 8. Metyrapone administration and corticotrophin infusion tests had limited usefulness in establishing the aetiology of the disease. The 17-OHCS excretion became raised in the response to corticotrophin and the evaluation was prolonged beyond normal responsiveness.

  14. A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH

    DEFF Research Database (Denmark)

    Ramsing, Mette; Becher, Naja Helene; Christensen, Rikke;

    A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH......A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH...

  15. Imprinting mutations in Angelman syndrome detected by Southern blotting using a probe containing exon {alpha} of SNRPN

    Energy Technology Data Exchange (ETDEWEB)

    Beuten, J.; Sutcliffe, J.S.; Nakao, M. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are associated with paternal and maternal deficiencies respectively, of gene expression within human chromosome 15q11-q13, and are caused by deletion, uniparental disomy (UPD), or other mutations. The SNRPN gene maps in this region, is paternally expressed, and is a candidate gene for PWS. Southern blotting using methylation-sensitive enzymes and a genomic DNA probe from the CpG island containing exon {alpha} of the SNRPN gene reveals methylation specific for the maternal allele. In cases of the usual deletions or UPD, the probe detects absence of an unmethylated allele in PWS and absence of a methylated allele in AS. We have analyzed 21 nondeletion/nonUPD AS patients with this probe and found evidence for an imprinting mutation (absence of a methylated allele) in 3 patients. Southern blotting with methylation-sensitive enzymes using the exon {alpha} probe, like use of the PW71 probe, should detect abnormalities in all known PWS cases and in 3 of the 4 forms of AS: deletion, UPD and imprinting mutations. This analysis provides a valuable diagnostic approach for PWS and AS. In efforts to localize the imprinting mutations in AS, one patient was found with failure to inherit a dinucleotide repeat polymorphism near probe 189-1 (D15S13). Analysis of this locus in AS families and CEPH families demonstrates a polymorphism that impairs amplification and a different polymorphism involving absence of hybridization to the 189-1 probe. The functional significance, if any, of deletion of the 189-1 region is unclear.

  16. Comparison of RNA extraction methods for the detection of porcine reproductive and respiratory syndrome virus from boar semen.

    Science.gov (United States)

    Christopher-Hennings, Jane; Dammen, Matthew; Nelson, Eric; Rowland, Raymond; Oberst, Richard

    2006-09-01

    To detect Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) in semen, various RNA extraction techniques have been utilized for RT-PCR, but rarely compared, to determine an optimized extraction protocol. Due to the viscosity, non-homogeneity, high cellularity and large volume of boar semen produced, difficulties can be encountered in obtaining RNA from the seminal cell fraction. This study compared six RNA extractions, five which used a commercially available kit (RNeasy, Qiagen Inc.) for use on highly cellular samples and a traditional phenol/chloroform procedure. All extractions were compared on serially diluted PRRSV "spiked" seminal cell fractions. The two methods resulting in recovery of the highest amount of RNA, which included a Qiashredder (Qiagen Inc.) (protocol 1) or cell lysis/centrifugation technique (protocol 3) preceding the RNeasy procedure were then compared using naturally infected semen samples from experimentally infected boars. Both protocols detected similar amounts of virus in "spiked" samples, but protocol 1 detected eight additional PRRSV-positive semen samples in naturally infected semen. This study demonstrated that semen "spiked" with PRRSV (cell-free virus) may not be representative of naturally infected semen samples (cell associated virus) for comparing extraction protocols, but did identify a useful extraction technique for boar semen. PMID:16621036

  17. Detection of leptin in serum from patients with polycystic ovary syndrome

    International Nuclear Information System (INIS)

    Objective: To investigate the relationship between leptin and insulin resistance in polycystic ovary syndrome (PCOS). Methods: Blood samples for leptin, LH/FSH, fasting insulin and glucose measurement from 17 patients with PCOS and 20 cases as control group were analyzed by radioimmunoassay or oxidase test. Results: It showed that leptin, LH/FSH levels of serum, insulin resistant index (IRI) and body mass index (BMI) in patients with PCOS were significantly higher than that in the control group (P<0.05). Leptin level was positively related with IRI and LH/FSH and BMI (P<0.01, P<0.05, P<0.01). Conclusion: It was suspected that leptin accelerate insulin resistance, the interaction of two factors aggravate the change of pathophysiology in PCOS

  18. In situ hybridization to detect porcine reproductive and respiratory syndrome virus

    DEFF Research Database (Denmark)

    Novosel, Dinko; Hjulsager, Charlotte Kristiane; Larsen, Lars Erik;

    2012-01-01

    a more useful diagnostic tool than immunohystochemistry (IHC) and may be helpful in further research ofpathogenesis. ISH is able to detect virus in non-progressive stages therefore the length of successful detection after infection is expected. It is not widely used, however, because of problems....... Positive signals were detected in alveolar macrophages in lungs, in hystiocytes in lymph nodes, Payer patches and tonsils, in macrophages, on inflamed area in ileum and in glomerular cells. 58 EuroPRRS2012 Budapest, Hungary ISH showed better sensitivity than IHC while there was an obvious discrepancy...

  19. Implications of a first trimester Down syndrome screening program on timing of malformation detection

    DEFF Research Database (Denmark)

    Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

    2011-01-01

    To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

  20. Implications of a first trimester Down syndrome screening program on timing of malformation detection

    DEFF Research Database (Denmark)

    Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

    2011-01-01

    To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women.......To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

  1. [Development of a DNA biochip for detection of known mtDNA mutations associated with MELAS and MERRF syndromes.].

    Science.gov (United States)

    Chen, Gang; Li, Wei; DU, Wei-Dong; Cao, Hui-Min; Tang, Hua-Yang; Tang, Xian-Fa; Sun, Zhong-Wu; Zhao, Hui; Jin, Qing-Hui; Zhao, Jian-Long; Zhang, Xue-Jun

    2008-10-01

    We developed an oligonucleotide biochip for synchronous multiplex detection of 31 known mitochondrial DNA mutations associated with MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MERRF (Myoclonic epilepsy with ragged red fibers). Allele-specific oligonucleotide probes were covalently immobilized on aldehyde modified glass slides, and then hybridized with Cy5-labled DNA fragments amplified from sample DNAs by a multiplex asymmetric PCR (MAP) method. Five patients with MELAS, 5 patients with MERRF and 20 healthy controls were investigated using the oligonucleotide biochip. The results showed that all the cases with MELAS had an A3243G mutation in the MT-TL1 gene. In the MERRF group, 4 cases were found to be an A8344G mutation and 1 case was a T8356C mutation, and both mutations were in the MT-TK gene. In the healthy controls, none of the 31 related mutations was found. The results of the DNA biochip were consistent with those by DNA sequencing. Clearly, the DNA biochip combined with MAP method would become a valuable tool in multiplex detecting of the point mutations in mtDNA leading to MELAS and/or MERRF syndrome. Moreover, this biochip format could be modified to extend to the screening scope of SNPs for any other human mitochondrial diseases.

  2. Detection of multiple annexin autoantibodies in a patient with recurrent miscarriages, fulminant stroke and seronegative antiphospholipid syndrome.

    Science.gov (United States)

    Scholz, Philipp; Auler, Markus; Brachvogel, Bent; Benzing, Thomas; Mallman, Peter; Streichert, Thomas; Klatt, Andreas R

    2016-01-01

    Anti-phospholipid syndrome (APS) is one of the main causes for recurrent miscarriages. The diagnosis of APS is based on the occurrence of clinical symptoms such as thrombotic events or obstetric complications as well as the detection of antiphospholipid antibodies directed against β2-glycoprotein I and cardiolipin, or a positive lupus anticoagulant assay. However, there is a subpopulation of patients with clinical symptoms of APS, but the lack of serological markers (seronegative APS). In addition, a large proportion of patients with unexplained recurrent miscarriages exist. These cases may be attributed, at least in part, to a seronegative APS.
The presence of autoantibodies against annexins is potentially associated with APS. Here we used immunoassays and immunoblots to detect autoantibodies directed against annexin A1-5, and A8, respectively, in a patient with a seronegative APS and a history of six recurrent pregnancy losses and fulminant stroke. We found strong IgM isotype antibody reactivity directed against annexin A2 and annexin A8, and moderate to weak IgM isotype antibody reactivity directed against annexin A1, A3, and A5. Further studies will evaluate the diagnostic value of IgM isotype antibodies against annexin A1-A5, and A8 for seronegative APS and recurrent miscarriages. PMID:27346975

  3. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

    Energy Technology Data Exchange (ETDEWEB)

    Nijbroek, G.; Sood, S.; McIntosh, I. [John Hopkins Univ. School of Medicine, Baltimore, MD (United States)] [and others

    1995-07-01

    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium finding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype. 56 refs., 5 figs., 3 tabs.

  4. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    DEFF Research Database (Denmark)

    Sperling, Lene; Kiil, C; Larsen, L U;

    2007-01-01

    by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. RESULTS: Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal...

  5. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus;

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  6. Blastocystis sp. in Irritable Bowel Syndrome (IBS)--Detection in Stool Aspirates during Colonoscopy.

    Science.gov (United States)

    Ragavan, Nanthiney Devi; Kumar, Suresh; Chye, Tan Tian; Mahadeva, Sanjiv; Shiaw-Hooi, Ho

    2015-01-01

    Blastocystis is one of the most common gut parasites found in the intestinal tract of humans and animals. Its' association with IBS is controversial, possibly as a result of irregular shedding of parasites in stool and variation in stool detection. We aimed to screen for Blastocystis in colonic stool aspirate samples in adult patients with and without IBS undergoing colonoscopy for various indications and measure the interleukin levels (IL-8, IL-3 and IL-5). In addition to standard stool culture techniques, polymerase chain reaction (PCR) techniques were employed to detect and subtype Blastocystis. All the serum samples collected were subjected for ELISA studies to measure the interleukin levels (IL-8, IL-3 and IL-5). Among 109 (IBS n = 35 and non-IBS n = 74) adults, direct stool examination and culture of colonic aspirates were initially negative for Blastocystis. However, PCR analysis detected Blastocystis in 6 (17%) IBS and 4 (5.5%) non-IBS patients. In the six positive IBS patients by PCR method, subtype 3 was shown to be the most predominant (3/6: 50%) followed by subtype 4 (2/6; 33.3%) and subtype 5 (1/6; 16.6%). IL-8 levels were significantly elevated in the IBS Blasto group and IBS group (pBlastocystis-infected stools. Patients with IBS infected with parasite showed an increase in the interleukin levels demonstrate that Blastocystis does have an effect in the immune system. PMID:26375823

  7. A multiplex PCR for simultaneous detection of classical swine fever virus, African swine fever virus, highly pathogenic porcine reproductive and respiratory syndrome virus, porcine reproductive and respiratory syndrome virus and pseudorabies in swines.

    Science.gov (United States)

    Hu, L; Lin, X Y; Yang, Z X; Yao, X P; Li, G L; Peng, S Z; Wang, Y

    2015-01-01

    In this assay, we developed and evaluated a multiplex PCR (mPCR) for its ability in detecting multiple infections of swine simultaneously. Four pairs of primers were used to detect five viruses. Specific primers were designed for classical swine fever virus (CSFV), African swine fever virus (ASFV) and pseudorabies (PRV). A pair of primers was designed prudently for two different types of porcine reproductive and respiratory syndrome virus that respectively were porcine reproductive and respiratory syndrome virus (PRRSV), highly pathogenic porcine reproductive and respiratory syndrome virus (HP-PRRSV). The detection limits of the mPCR were 1.09 × 10⁴, 1.50 × 10³, 2.10 × 10³, 1.30 × 10³ and 8.97 × 10² copies/reaction for CSFV, ASFV, HP-PRRSV, PRRSV and PRV, respectively. A total of 49 clinical specimens were tested by the mPCR, and the result showed that co-infection by two or three viruses was 51%. In conclusion, the PCR is a useful tool for clinical diagnosis of not only single infections but also mixed infections in swines. PMID:26812812

  8. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

    Science.gov (United States)

    Taylor-Phillips, Sian; Freeman, Karoline; Geppert, Julia; Agbebiyi, Adeola; Uthman, Olalekan A; Madan, Jason; Clarke, Angus; Quenby, Siobhan; Clarke, Aileen

    2016-01-01

    Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. Design Systematic review and meta-analysis of published studies. Data sources PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015. Eligibility criteria for selecting studies English language journal articles describing case–control studies with ≥15 trisomy cases or cohort studies with ≥50 pregnant women who had been given NIPT and a reference standard. Results 41, 37 and 30 studies of 2012 publications retrieved were included in the review for Down, Edwards and Patau syndromes. Quality appraisal identified high risk of bias in included studies, funnel plots showed evidence of publication bias. Pooled sensitivity was 99.3% (95% CI 98.9% to 99.6%) for Down, 97.4% (95.8% to 98.4%) for Edwards, and 97.4% (86.1% to 99.6%) for Patau syndrome. The pooled specificity was 99.9% (99.9% to 100%) for all three trisomies. In 100 000 pregnancies in the general obstetric population we would expect 417, 89 and 40 cases of Downs, Edwards and Patau syndromes to be detected by NIPT, with 94, 154 and 42 false positive results. Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. Pooled sensitivity was also lower in the first trimester of pregnancy, in studies in the general obstetric population, and in cohort studies with consecutive enrolment. Conclusions NIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome. However, it is not 100% accurate and should not be used as a final diagnosis for positive cases. Trial registration number CRD42014014947. PMID:26781507

  9. Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.

    OpenAIRE

    Tarleton, J; Wong, S.; Heitz, D.; Schwartz, C.

    1992-01-01

    Genetic recombination near the fragile X locus (Xq27.3) has frequently been a problem in linkage studies of families in which the fragile X is segregating. This case report illustrates the resolution of a difficult situation in a fragile X family for whom cytogenetic studies were inconclusive and where recombination had twice confounded attempts at prenatal DNA diagnosis by RFLP analysis. Using a newly developed DNA probe, StB12.3, for direct detection of DNA instability in the fragile X locu...

  10. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

    Science.gov (United States)

    Godler, David E; Inaba, Yoshimi; Schwartz, Charles E; Bui, Quang M; Shi, Elva Z; Li, Xin; Herlihy, Amy S; Skinner, Cindy; Hagerman, Randi J; Francis, David; Amor, David J; Metcalfe, Sylvia A; Hopper, John L; Slater, Howard R

    2015-07-01

    Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females. XCI skewing has been also linked to abnormal X-linked gene expression with the broader clinical impact for sex chromosome aneuploidies (SCAs). In this study, 10 FREE2 CpG sites were targeted using methylation specific quantitative melt analysis (MS-QMA), including 3 sites that could not be analysed with previously used EpiTYPER system. The method was applied for detection of skewed XCI in FM females and in different types of SCA. We tested venous blood and saliva DNA collected from 107 controls (CGG chromosome test; (ii) locus-specific XCI skewing towards the hypomethylated state in FM females; and (iii) skewed XCI towards the hypermethylated state in SCA with 3 or more X chromosomes, and in 5% of the 47,XXY individuals. MS-QMA output also showed significant correlation with the EpiTYPER reference method in FM males and females (P < 0.0001) and SCAs (P < 0.05). In conclusion, we demonstrate use of MS-QMA to quantify skewed XCI in two applications with diagnostic utility.

  11. The application of root mean square electrocardiography (RMS ECG for the detection of acquired and congenital long QT syndrome.

    Directory of Open Access Journals (Sweden)

    Robert L Lux

    Full Text Available BACKGROUND: Precise measurement of the QT interval is often hampered by difficulty determining the end of the low amplitude T wave. Root mean square electrocardiography (RMS ECG provides a novel alternative measure of ventricular repolarization. Experimental data have shown that the interval between the RMS ECG QRS and T wave peaks (RTPK closely reflects the mean ventricular action potential duration while the RMS T wave width (TW tracks the dispersion of repolarization timing. Here, we tested the precision of RMS ECG to assess ventricular repolarization in humans in the setting of drug-induced and congenital Long QT Syndrome (LQTS. METHODS: RMS ECG signals were derived from high-resolution 24 hour Holter monitor recordings from 68 subjects after receiving placebo and moxifloxacin and from standard 12 lead ECGs obtained in 97 subjects with LQTS and 97 age- and sex-matched controls. RTPK, QTRMS and RMS TW intervals were automatically measured using custom software and compared to traditional QT measures using lead II. RESULTS: All measures of repolarization were prolonged during moxifloxacin administration and in LQTS subjects, but the variance of RMS intervals was significantly smaller than traditional lead II measurements. TW was prolonged during moxifloxacin and in subjects with LQT-2, but not LQT-1 or LQT-3. CONCLUSION: These data validate the application of RMS ECG for the detection of drug-induced and congenital LQTS. RMS ECG measurements are more precise than the current standard of care lead II measurements.

  12. A genome-wide association study to detect genetic variation for postpartum dysgalactia syndrome in five commercial pig breeding lines.

    Science.gov (United States)

    Preissler, Regine; Tetens, Jens; Reiners, Kerstin; Looft, Holger; Kemper, Nicole

    2013-08-01

    Postpartum dysgalactia syndrome (PDS) in sows is an important disease after parturition with a relevant economic impact, affecting the health and welfare of both sows and piglets. The genetic background of this disease has been discussed and its heritability estimated, but further genetic analyses are lacking in detail. The aim of the current study was to detect loci affecting the susceptibility to PDS through a genome-wide association approach. The study was designed as a family-based association study with matched sampling of affected sows and healthy half- or full-sib control sows on six farms. For the study, 597 sows (322 affected vs. 275 healthy control sows) were genotyped on 62 163 single nucleotide polymorphisms (SNPs) using the Illumina PorcineSNP60 BeadChip. After quality control, 585 sows (314 affected vs. 271 healthy control sows) and 49 740 SNPs remained for further analysis. Statistics were performed mainly with the r package genabel and included a principal component analysis. A statistically significant genome-wide associated SNP was identified on porcine chromosome (SSC) 17. Further promising results with moderate significance were detected on SSC 13 and on an unplaced scaffold with an older annotation on SSC 15. The PRICKLE2 and NRP2 genes were identified as candidate genes near associated SNPs. Several quantitative trait loci (QTL) have been previously described in these genomic regions, including QTL for mammary gland condition, as teat number and non-functional nipples QTL, as well as QTL for body temperature and gestation length.

  13. A simple and rapid immunochromatographic test strip for detection of white spot syndrome virus (WSSV) of shrimp.

    Science.gov (United States)

    Sithigorngul, Weerawan; Rukpratanporn, Sombat; Pecharaburanin, Nilawan; Longyant, Siwaporn; Chaivisuthangkura, Parin; Sithigorngul, Paisarn

    2006-10-17

    A simple strip-test kit for white spot syndrome virus (WSSV) detection was developed using monoclonal antibody W29 (against the VP28 structural protein) conjugated with colloidal gold as the detector antibody. A rabbit anti-recombinant VP28F118 (rVP28) protein antibody in combination with a W28 monoclonal antibody was used as the capture complex at the test line (T), and goat anti-mouse IgG antibody (GAM) was used as the capture antibody at the control line (C). For evidence, the ready-to-use strip was kept in a plastic case and stored in a desiccated plastic bag. A sample volume of 100 microl gill homogenate in application buffer was applied to the sample chamber at one end of the strip and allowed to flow by chromatography through the nitrocellulose membrane to the other end. In test samples containing WSSV, the virus bound to the monoclonal antibody conjugated with colloidal gold and the resulting complex was captured by the antibodies at T to give a reddish-purple band. Any unbound monoclonal antibody conjugated with colloidal gold moved across T to be captured by the GAM and formed a band at C. In samples without WSSV or with WSSV below the limit of detection of the kit, only the band at C was seen. This method was 4 times less sensitive than dot blotting, and about 2 000 000 times less sensitive than 1-step PCR. Nonetheless, it could be used to screen individual shrimp or pooled shrimp samples to confirm high levels of WSSV infection or WSSV disease outbreaks. The beneficial features of this kit are that simple, convenient and quick results can be obtained without the requirement of sophisticated tools or special skills. PMID:17140132

  14. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  15. Twenty-two years of failure to set up undisputed assays to detect patients with the antiphospholipid syndrome

    NARCIS (Netherlands)

    de Groot, Philip G.; Derksen, Ronald H. W. M.; de Laat, Bas

    2008-01-01

    The antiphospholipid syndrome is defined by the persistent presence of antiphospholipid antibodies in plasma of patients with a history of thrombosis and/or pregnancy morbidity. From the definition in 1985 onwards, confusion has arisen concerning who has the syndrome and who has not. Although the cl

  16. Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.

    Science.gov (United States)

    Dong, Li; Gao, Ming; Hao, Wei-Jing; Zheng, Xiang-Qian; Li, Yi-Gong; Li, Xiao-Long; Yu, Yang

    2016-05-01

    Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon sequencing performed by Sanger sequencing. Eight mutations, including 5 mutations, which were mapped in noncoding region, 1 synonymous mutation, and 2 missense mutations, were detected in the FLCN gene in both patients. The 2 missense mutations, predicted to be disease-causing mutation or affecting protein function by MutationTaster and SIFT, confirmed the diagnosis. In addition, the 2 patients were also affected with papillary thyroid cancer. Total thyroidectomy and prophylactic bilateral central lymph node dissection were performed for them and the BHD-2 also received lateral lymph node dissection. Pathology reports showed that the patients had lymph node metastasis in spite of small size of thyroid lesions.The 2 missense mutations, not reported previously, expand the mutation spectrum of FLCN gene associated with BHD syndrome. For the thyroid cancer patients with BHD syndrome, total thyroidectomy and prophylactic bilateral central lymph node dissection may be suitable and the neck ultrasound may benefit BHD patients and their family members. PMID:27258496

  17. Comparison between a pediatric health promotion center and a pediatric obesity clinic in detecting metabolic syndrome and non-alcoholic fatty liver disease in children.

    Science.gov (United States)

    Yang, Hye Ran; Yi, Dae Yong; Choi, Hyoung Soo

    2014-12-01

    This study was done to evaluate the efficacy of health check-ups in children in detecting metabolic syndrome and non-alcoholic fatty liver disease (NAFLD) by comparing the pediatric health promotion center with the pediatric obesity clinic. Children who visited a pediatric health promotion center (n=218) or a pediatric obesity clinic (n=178) were included. Anthropometric data, blood pressure, laboratory tests, and abdominal ultrasonography were evaluated. Two different criteria were applied to diagnose metabolic syndrome. The prevalence of metabolic syndrome in the 2 units was 3.2%-3.7% in a pediatric health promotion center and 23%-33.2% in a pediatric obesity clinic. Significant differences were observed in the prevalence of each component of metabolic syndrome between the 2 units including abdominal adiposity, blood pressure, serum triglycerides, and fasting blood glucose (Pobesity clinic targeting obese children than that among patients visiting the health promotion center offering routine check-ups. An obesity-oriented approach is required to prevent obesity-related health problems in children.

  18. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.

    Science.gov (United States)

    Abuelo, D N; Tint, G S; Kelley, R; Batta, A K; Shefer, S; Salen, G

    1995-04-10

    The Smith-Lemli-Opitz (SLO or RSH) syndrome is an autosomal recessive disorder characterized by a recognizable pattern of minor facial anomalies, congenital anomalies of many organs, failure to thrive, and mental retardation. Its cause is a defect in cholesterol biosynthesis characterized by abnormally low plasma cholesterol levels and concentrations of the cholesterol precursor 7-dehydrocholesterol (7DHC) elevated up to several thousand-fold above normal. We used capillary column gas-chromatography to quantify sterols in amniotic fluid, amniotic cells, plasma, placenta, and breast milk from a heterozygous mother who had previously given birth to an affected son and in cord blood and plasma from her affected newborn daughter. The cholesterol concentration in amniotic fluid at 16 weeks gestation was normal, but 7DHC, normally undetectable, was greatly elevated. In cultured amniocytes, the level of 7DHC was 11% of total cholesterol, similar to cultured fibroblasts from patients with SLO syndrome. At 38 weeks, a girl with phenotype consistent with the syndrome was born. Cholesterol concentrations were abnormally low in cord blood and in the baby's plasma at 12 weeks, while levels of 7DHC were grossly elevated, confirming the prenatal diagnosis. The mother's plasma cholesterol increased steadily during gestation but remained below the lower 95% limit reported for normal control women. We conclude that it is now possible to detect the SLO syndrome at 16 weeks gestation by analyzing amniotic fluid sterols.

  19. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  20. Molecular Pathology of 6 Novel GJB2 Allelic Variants Detected in Familial and Sporadic Iranian Non Syndromic Hearing Loss Cases

    Directory of Open Access Journals (Sweden)

    M Hashemzadeh Chaleshtori

    2008-09-01

    Full Text Available "nBackground: Mutations of GJB2 gene encoding connexion 26 are the most common cause of hearing loss in many popula­tions. A very wide spectrum of GJB2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. In this study, we have provided genetic evidence on the pathogenicity of our previ­ously reported novel GJB2 allelic variants. "nMethods: The pathogenic role of GJB2 allelic variants were assessed using co segregation of each allelic variant with hear­ing loss in family members, absence of the allelic variants in control populations, coexistence with a second GJB2 mutation, na­ture of the amino acid substitution and evolutionary conservation of the appropriate amino acid. "nResults: The GJB2 allelic variants including 363delC, 327delGGinsA, H16R and G200R have been co segregated with auto­somal recessive non syndromic hearing loss in five families and are not found in control subjects. The G130V and K102Q were found in heterozygous state in two deaf individuals. G130V results in an exchange a residue highly conserved among all the connexins but was found with a rate of 1% in control subjects and K102Q results in an exchange a residue not con­served among all the connexins and not identified in control subjects. "nConclusion: We conclude that, 363delC, 327delGGinsA, H16R and G200R may be pathogenic. However, the pathogenic­ity and inheritance of K102Q and G130V can not be assessed clearly and remains to be identified.

  1. Evaluation of a Continuous Indicator for Syndromic Surveillance through Simulation. Application to Vector Borne Disease Emergence Detection in Cattle Using Milk Yield

    Science.gov (United States)

    Madouasse, Aurélien; Marceau, Alexis; Lehébel, Anne; Brouwer-Middelesch, Henriëtte; van Schaik, Gerdien; Van der Stede, Yves; Fourichon, Christine

    2013-01-01

    Two vector borne diseases, caused by the Bluetongue and Schmallenberg viruses respectively, have emerged in the European ruminant populations since 2006. Several diseases are transmitted by the same vectors and could emerge in the future. Syndromic surveillance, which consists in the routine monitoring of indicators for the detection of adverse health events, may allow an early detection. Milk yield is routinely measured in a large proportion of dairy herds and could be incorporated as an indicator in a surveillance system. However, few studies have evaluated continuous indicators for syndromic surveillance. The aim of this study was to develop a framework for the quantification of both disease characteristics and model predictive abilities that are important for a continuous indicator to be sensitive, timely and specific for the detection of a vector-borne disease emergence. Emergences with a range of spread characteristics and effects on milk production were simulated. Milk yields collected monthly in 48 713 French dairy herds were used to simulate 576 disease emergence scenarios. First, the effect of disease characteristics on the sensitivity and timeliness of detection were assessed: Spatio-temporal clusters of low milk production were detected with a scan statistic using the difference between observed and simulated milk yields as input. In a second step, the system specificity was evaluated by running the scan statistic on the difference between observed and predicted milk yields, in the absence of simulated emergence. The timeliness of detection depended mostly on how easily the disease spread between and within herds. The time and location of the emergence or adding random noise to the simulated effects had a limited impact on the timeliness of detection. The main limitation of the system was the low specificity i.e. the high number of clusters detected from the difference between observed and predicted productions, in the absence of disease. PMID:24069227

  2. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

    OpenAIRE

    Jacob, Francois Dominique; Ramaswamy, Vijay; Andersen, John; Bolduc, Francois V.

    2009-01-01

    Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic Rett syndrome. Genetic studies in patients with a Rett variant have expanded the spectrum of underlying genetic etiologies. Recently, a deletion encompassing several genes in the long arm of chromosome 14 has been a...

  3. Rapid and sensitive PCR detection of Vibrio penaeicida, the putative etiological agent of syndrome 93 in New Caledonia

    OpenAIRE

    Saulnier, Denis; Avarre, Jean-Christophe; Le Moullac, Gilles; Ansquer, Dominique; Levy, Peva; Vonau, Vincent

    2000-01-01

    Experimental infections of Penaeus (Litopenaeus) stylirostris were performed with a Vibrio penaeicida strain (AM101) isolated in New Caledonia from Syndrome 93 diseased shrimp. Cumulative mortalities resulting from intramuscular injection or immersion of shrimp in bacterial suspensions demonstrated high virulence for this bacterial strain and suggested that V. penaeicida could be the etiological agent of Syndrome 93. The median lethal dose (LD50) for AM101 was 1.3 x 104 CFU (colony forming un...

  4. Validation of a commercial insulated isothermal PCR-based POCKIT test for rapid and easy detection of white spot syndrome virus infection in Litopenaeus vannamei.

    Directory of Open Access Journals (Sweden)

    Yun-Long Tsai

    Full Text Available Timely pond-side detection of white spot syndrome virus (WSSV plays a critical role in the implementation of bio-security measures to help minimize economic losses caused by white spot syndrome disease, an important threat to shrimp aquaculture industry worldwide. A portable device, namely POCKIT™, became available recently to complete fluorescent probe-based insulated isothermal PCR (iiPCR, and automatic data detection and interpretation within one hour. Taking advantage of this platform, the IQ Plus™ WSSV Kit with POCKIT system was established to allow simple and easy WSSV detection for on-site users. The assay was first evaluated for its analytical sensitivity and specificity performance. The 95% limit of detection (LOD of the assay was 17 copies of WSSV genomic DNA per reaction (95% confidence interval [CI], 13 to 24 copies per reaction. The established assay has detection sensitivity similar to that of OIE-registered IQ2000™ WSSV Detection and Protection System with serial dilutions of WSSV-positive Litopenaeus vannamei DNA. No cross-reaction signals were generated from infectious hypodermal and haematopoietic necrosis virus (IHHNV, monodon baculovirus (MBV, and hepatopancreatic parvovirus (HPV positive samples. Accuracy analysis using 700 L. vannamei of known WSSV infection status shows that the established assayhassensitivity93.5% (95% CI: 90.61-95.56% and specificity 97% (95% CI: 94.31-98.50%. Furthermore, no discrepancy was found between the two assays when 100 random L. vannamei samples were tested in parallel. Finally, excellent correlation was observed among test results of three batches of reagents with 64 samples analyzed in three different laboratories. Working in a portable device, IQ Plus™ WSSV Kit with POCKIT system allows reliable, sensitive and specific on-site detection of WSSV in L. vannamei.

  5. Beals Syndrome

    Science.gov (United States)

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

  6. MDE heteroduplex analysis of PCR products spanning each exon of the fibrillin (FBN1) gene greatly increases the efficiency of mutation detection in the Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Nijbroek, G.; Dietz, H.C. [Johns Hopkins Univ. School of Med., Baltimore, MD (United States); Pereira, L.; Ramirz, F. [Mount Sinai School of Med., New York, NY (United States)

    1994-09-01

    Defects in fibrillin (FNB1) cause the Marfan syndrome (MFS). Classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and a significant number of FBN1 mutations have been identified in affected individuals. Using a standard method of mutation detection, SSCP analysis of overlapping RT-PCR amplimers that span the entire coding sequence, the general experience has been a low yield of identifiable mutations, ranging from 10-20%. Possible explanations included low sensitivity of mutation screening procedures, under-representation of mutant transcript in patient samples either due to deletions or mutant alleles containing premature termination codons, clustering of mutations in yet uncharacterized regions of the gene, including regulatory elements, or genetic heterogeneity. In order to compensate for a potential reduced mutant transcript stability, we have devised a method to screen directly from genomic DNA. The intronic boundaries flanking each of the 65 FBN1 exons were characterized and primer pairs were fashioned such that all splice junctions would be included in the resultant amplimers. The entire gene was screened for a panel of 9 probands with classic Marfan syndrome using mutation detection enhancement (MDE) gel heteroduplex analysis. A mutation was identified in 5/9 (55%) of patient samples. All were either missense mutations involving a cysteine residue or small deletions that did not create a frame shift. In addition, 10 novel polymorphisms were found. We conclude that the majority of mutations causing Marfan syndrome reside in the FBN1 gene and that mutations creating premature termination codons are not the predominant cause of inefficient mutation detection using RT-PCR. We are currently modifying screening methods to increase sensitivity and targeting putative FBN1 gene promoter sequences for study.

  7. Detection of vulnerable plaques rather than the culprit lesions in patients with acute coronary syndrome using virtual histology intravascular ultrasound imaging

    Institute of Scientific and Technical Information of China (English)

    QIAN Ju-ying

    2009-01-01

    @@ Pathology and postmortem studies have reported that the most important mechanism of acute coronary syndrome (ACS) is the rupture of a vulnerable plaque and subsequent thrombus formation. Such events commonly arise from the non-flow limiting atherosclerotic lesions which are prone to rupture. Thin-cap fibroatheromas (TCFA) are the most common type of vulnerable plaque. As the widely used technique for the detection of coronary arterial diseases, coronary angiography has intrinsic limitations since it only portrays the contrast agent-filled contour of the lumen and provides little information on the vessel wall and even less the characteristics of the plaques.

  8. Zika virus detection in urine from patients with Guillain-Barré syndrome on Martinique, January 2016.

    Science.gov (United States)

    Rozé, Benoît; Najioullah, Fatiha; Fergé, Jean-Louis; Apetse, Kossivi; Brouste, Yannick; Cesaire, Raymond; Fagour, Cédric; Fagour, Laurence; Hochedez, Patrick; Jeannin, Séverine; Joux, Julien; Mehdaoui, Hossein; Valentino, Ruddy; Signate, Aïssatou; Cabié, André

    2016-01-01

    We report two cases of Guillain-Barré syndrome who had concomitant Zika virus viruria. This viruria persisted for longer than 15 days after symptom onset. The cases occurred on Martinique in January 2016, at the beginning of the Zika virus outbreak. Awareness of this possible neurological complication of ZikV infection is needed.

  9. Sensitive detection and typing of porcine reproductive and respiratory syndrome virus by RT-PCR amplification of whole viral genes

    DEFF Research Database (Denmark)

    Oleksiewicz, M.B.; Bøtner, Anette; Madsen, K.G.;

    1998-01-01

    Following the recent use of a live vaccine against porcine reproductive and respiratory syndrome virus (PRRSV) in Denmark, both American (vaccine) and European-type PRRSV now coexist in Danish herds. This situation highlighted a requirement for supplementary tests for precise virus-typing. As a r...

  10. Direct detection of fungal siderophores on bats with white-nose syndrome via fluorescence microscopy-guided ambient ionization mass spectrometry.

    Directory of Open Access Journals (Sweden)

    Samantha J Mascuch

    Full Text Available White-nose syndrome (WNS caused by the pathogenic fungus Pseudogymnoascus destructans is decimating the populations of several hibernating North American bat species. Little is known about the molecular interplay between pathogen and host in this disease. Fluorescence microscopy ambient ionization mass spectrometry was used to generate metabolic profiles from the wings of both healthy and diseased bats of the genus Myotis. Fungal siderophores, molecules that scavenge iron from the environment, were detected on the wings of bats with WNS, but not on healthy bats. This work is among the first examples in which microbial molecules are directly detected from an infected host and highlights the ability of atmospheric ionization methodologies to provide direct molecular insight into infection.

  11. Direct detection of fungal siderophores on bats with white-nose syndrome via fluorescence microscopy-guided ambient ionization mass spectrometry

    Science.gov (United States)

    Mascuch, Samantha J.; Moree, Wilna J.; Cheng-Chih Hsu, Cheng-Chih; Turner, Gregory G.; Cheng, Tina L.; Blehert, David S.; Kilpatrick, A. Marm; Frick, Winifred F.; Meehan, Michael J.; Dorrestein, Pieter C.; Gerwick, Lena

    2015-01-01

    White-nose syndrome (WNS) caused by the pathogenic fungus Pseudogymnoascus destructans is decimating the populations of several hibernating North American bat species. Little is known about the molecular interplay between pathogen and host in this disease. Fluorescence microscopy ambient ionization mass spectrometry was used to generate metabolic profiles from the wings of both healthy and diseased bats of the genus Myotis. Fungal siderophores, molecules that scavenge iron from the environment, were detected on the wings of bats with WNS, but not on healthy bats. This work is among the first examples in which microbial molecules are directly detected from an infected host and highlights the ability of atmospheric ionization methodologies to provide direct molecular insight into infection.

  12. Understanding Brugada syndrome.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  13. Comparison of antibody assays for detection of autoantibodies to Ro 52, Ro 60 and La associated with primary Sjögren's syndrome.

    Science.gov (United States)

    Trier, Nicole Hartwig; Nielsen, Inger Ødum; Friis, Tina; Houen, Gunnar; Theander, Elke

    2016-06-01

    Anti-Ro(52/60) and anti-La constitute the hallmark autoantibodies in primary Sjögren's syndrome, being present in 40-70% of sera. Several anti-Ro/La assays exist, but antibody detection appears to be assay-specific, thus the aim of this study was to compare several anti-Ro/La assays. In total, 96 sera from individuals with primary Sjögren's syndrome and 114 healthy controls were tested for anti-Ro 52/60 and anti-La in 17 immunoassays. Especially the immunoassays used for detection of anti-Ro 52 differed in their sensitivity (48-79%), while only small differences in sensitivities were observed for the anti-Ro 60 (69-77%) anti-La (39-44%) assays. Concordances of 65%, 79% and 73% for the anti-Ro 52, anti-Ro 60 and anti-La assays were found, respectively. The majority of the assays yielded high specificities, primarily ranging from 97 to 100%, except from a single anti-Ro 60 assay, which yielded a specificity of 79%. Occasionally, reactivity levels were increased in a few assays, indicating that false-positive results can be obtained when applying assays of reduced specificity. In general, the commercial assays appeared to perform better than the in-house analyses. When correcting the in-house assays for background reactivity, sensitivities were reduced by approximately 7%, 17%, and 19% for anti-Ro 52, anti-Ro 60 and anti-La assays, respectively, illustrating the pitfalls when applying immunoassays for detection of autoantibodies, which in theory may apply to commercial assays as well. Finally, increased total sensitivities were obtained when combining assays. These studies contribute to clarify the clinical utility of immunoassays for detection of autoantibodies of Ro 52, Ro 60 and La and illustrate that the most efficient strategy to maximize antibody sensitivity is to combine several assays.

  14. Auriculotemporal Syndrome (Frey Syndrome).

    Science.gov (United States)

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  15. Overexpression of Gremlin-1 in Patients with Loeys-Dietz Syndrome: Implications on Pathophysiology and Early Disease Detection

    OpenAIRE

    Wellbrock, J; Sheikhzadeh, S; Oliveira-Ferrer, L; Stamm, H; Hillebrand, M; Keyser, B; Klokow, M; Vohwinkel, G; Bonk, V; Otto, B; Streichert, T; Balabanov, S.; Hagel, C; Rybczynski, M.; Bentzien, F.

    2014-01-01

    BACKGROUNDS: The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2. Most patients with LDS develop severe aortic aneurysms resulting in early need of surgical intervention. In order to gain further insight into the pathophysiology of the disorder, we investigated circulating outgrowth endothelial cells (OEC) from the peripheral blood of LDS patients from a cohort of 23 patients inclu...

  16. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

    OpenAIRE

    Renieri, Alessandra; Parri, Veronica; Katzaki, Eleni; Uliana, Vera; Scionti, Francesca; Tita, Rossella; Longo, Ilaria; Boschloo, Renske; Vijzelaar, Raymon; Selicorni, Angelo; Brancati, Francesco; Dallapiccola, Bruno; Zelante, Leopoldo; Hamel, Christian P.; Sarda, Pierre

    2010-01-01

    Abstract Cohen syndrome is a rare clinically variable autosomal recessive disorder characterized by mental retardation, postnatal microcephaly, facial dysmorphisms, ocular abnormalities, and intermittent neutropenia. Mutations in the COH1 gene have been found in patients from different ethnic origins. However, a high percentage of patients has only one or no mutated allele. In order to investigate whether COH1 copy number changes account for missed mutations, we used multiplex liga...

  17. Alterations in collagen structure in hypermobility and Ehlers-Danlos syndromes detected by Raman spectroscopy in vivo

    Science.gov (United States)

    Johansson, Carina K.; Gniadecka, Monika; Ullman, Susanne; Halberg, Poul; Kobayasi, Takasi; Wulf, Hans Christian

    2000-11-01

    Patients with hypermobility syndrome (HS) and Ehlers-Danlos syndrome (EDS) were investigated by means of in vivo near- infrared Fourier-transform Raman spectroscopy. HS is a benign and common condition (up to 5 percent of the population of the Western World). EDS is a rare, inherited connective tissue disease characterized by joint hypermobility, skin hyperextensibility, and other, occasionally serious, organ changes. EDS and HS may be related disorders. We investigated 13 patients with HS, 8 patients with EDS, and 24 healthy volunteers by means of in vivo Raman spectroscopy. The patients were classified according to Beighton and Holzberg et al. No difference in age between the three groups was found (HS 41 (33-49), EDS 36 (25-47), controls 37 (31-42); mean, 95% confidence intervals, respectively). Spectral differences were found in the intensity of the amide-III bands around 1245 and 1270 cm-1 in HS and EDS compared with healthy skin (Kruskal-Wallis, p equals 0,02 for intensity ratios (I1245/I1270) between the investigated groups). To elucidate the character of the alterations in the amide-III bands a curve fitting procedure was applied. In conclusion, Raman spectroscopy may aid in the diagnosis of HS and EDS. Moreover the technique may be useful for analyzing the molecular changes occurring in these syndromes.

  18. Syndrome in question*

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  19. Syndrome in Question.

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  20. Syndrome in question*

    OpenAIRE

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

  1. Fragile X syndrome.

    OpenAIRE

    Wiebe, E.; A. Wiebe

    1994-01-01

    Fragile X syndrome is the most common form of inherited mental retardation. Only recently has it been possible to detect all carriers and transmitters. We review the syndrome and discuss the pedigree of a large fragile X family. Family doctors should identify cases in their practices so genetic counseling can be offered to the families.

  2. Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly

    Directory of Open Access Journals (Sweden)

    Swiderski Ruth E

    2012-10-01

    Full Text Available Abstract Background Hydrocephalus is a heterogeneous disorder with multiple etiologies that are not yet fully understood. Animal models have implicated dysfunctional cilia of the ependyma and choroid plexus in the development of the disorder. In this report, we sought to determine the origin of the ventriculomegaly in four Bardet Biedl syndrome (BBS mutant mouse strains as models of a ciliopathy. Methods Evans Blue dye was injected into the lateral ventricle of wild- type and BBS mutant mice to determine whether obstruction of intra- or extra-ventricular CSF flow contributed to ventriculomegaly. Transmission electron microscopy (TEM was used to examine the ultrastructure of the choroid plexus, subfornical organ (SFO, subcommisural organ (SCO, and ventricular ependyma to evaluate their ultrastructure and the morphology of their primary and motile cilia. Results and discussion No obstruction of intra- or extra-ventricular CSF flow was observed, implying a communicating form of hydrocephalus in BBS mutant mice. TEM analyses of the mutants showed no evidence of choroidal papillomas or breakdown of the blood:CSF barrier. In contrast, structural defects were observed in a subpopulation of cilia lining the choroid plexus, SFO, and ventricular ependyma. These included disruptions of the microtubular structure of the axoneme and the presence of electron-dense vesicular-like material along the ciliary shaft and at the tips of cilia. Conclusions Abnormalities in cilia structure and function have the potential to influence ciliary intraflagellar transport (IFT, cilia maintenance, protein trafficking, and regulation of CSF production. Ciliary structural defects are the only consistent pathological features associated with CSF-related structures in BBS mutant mice. These defects are observed from an early age, and may contribute to the underlying pathophysiology of ventriculomegaly.

  3. The size of the primary cilium and acetylated tubulin are modulated during adipocyte differentiation: Analysis of HDAC6 functions in these processes.

    Science.gov (United States)

    Forcioli-Conti, Nicolas; Estève, David; Bouloumié, Anne; Dani, Christian; Peraldi, Pascal

    2016-05-01

    The primary cilium is an organelle present in most of the cells of the organism. Ciliopathies, such as the Bardet Biedl and the Alstrom syndromes are associated with obesity. We, and others, have shown that the primary cilium undergoes size modifications during adipocyte differentiation of human adipose stromal cells. We show here that the levels of acetylated α-tubulin, a constituent of the primary cilium, and the expression of HDAC6, the enzyme that deacetylates α-tubulin and is responsible for the loss of the cilium during mitosis, are modulated during adipogenesis. Moreover, during adipocyte differentiation cells that express higher level of HDAC6 are the first to lose their primary cilium. We have investigated the function of HDAC6 on adipocyte differentiation and on the primary cilium. We observe that inhibition of HDAC6 activity leads to a decrease in adipocyte differentiation. This is associated with an inhibition of the initial elongation of the cilium. Interestingly, overexpression of HDAC6 inhibits adipocyte differentiation and blunts the elongation of the primary cilium. In both situations, inhibition of adipocyte differentiation was not associated with an inhibition of the glucocorticoid receptor activity. This indicates that HDAC6 controls adipogenesis through the levels of acetylated α-tubulin. Moreover, we show that although HDAC6 expression increases during adipocyte differentiation it is not sufficient to provoke the loss of the cilium. This suggests the existence of a novel mechanism for the loss of the cilium. Together, these data indicate that HDAC6, and acetylated α-tubulin, are important regulator of adipocyte differentiation. PMID:26363102

  4. Functional genomics of intraflagellar transport-associated proteins in C. elegans.

    Science.gov (United States)

    Inglis, Peter N; Blacque, Oliver E; Leroux, Michel R

    2009-01-01

    The nematode Caenorhabditis elegans presents numerous advantages for the identification and molecular analysis of intraflagellar transport (IFT)-associated proteins, which play a critical role in the formation of cilia. Many proteins were first described as participating in IFT in this organism, including IFTA-1 (IFT121), DYF-1 (fleer/IFT70), DYF-2 (IFT144), DYF-3 (Qilin), DYF-11 (MIP-T3/IFT54), DYF-13, XBX-1 (dynein light intermediate chain), XBX-2 (dynein light chain), CHE-13 (IFT57/HIPPI), orthologs of Bardet-Biedl syndrome proteins, and potential regulatory protein, IFTA-2 (RABL5/IFT22). Transgenic animals bearing green fluorescent protein (GFP)-tagged proteins can be generated with ease, and in vivo imaging of IFT in both wild-type and cilia mutant strains can be performed quickly. The analyses permit detailed information on the localization and dynamic properties (velocities along the ciliary axoneme) of the relevant proteins, providing insights into their potential functions in processes such as anterograde and retrograde transport and cilium formation, as well as association with distinct modules of the IFT machinery (e.g., IFT subcomplexes A or B). Behavioral studies of the corresponding IFT-associated gene mutants further enable an understanding of the ciliary role of the proteins-e.g., in chemosensation, lipid homeostasis, lifespan control, and signaling-in a multicellular animal. In this chapter, we discuss how C. elegans can be used for the identification and characterization of IFT-associated proteins, focusing on methods for the generation of GFP-tagged IFT reporter strains, time-lapse microscopy, and IFT rate measurements. PMID:20409822

  5. Comparative Study of ELISA and IIFT in Detecting Chlamydia Pneumoniae Specific IgG Antibodies in Patients of Acute Coronary Syndrome (ACS

    Directory of Open Access Journals (Sweden)

    Bhuva S P, Bhuva P J, Javdekar T B, Jain M R, Mulla S A

    2012-01-01

    Full Text Available Background: Chlamydia pnaumoniae is reported to be associated with coronary heart disease (CHD. Efficacy of available serologic tests for detecting C.pneumoniae antibodies has been debated. The aim of present study was to compare Enzyme Linked Immunosorbant Assay (ELISA and Indirect Immunofluorescent Test (IIFT for detecting specific antichlamydial antibodies in patients of Acute Coronary Syndrome (ACS. Materials and Methods: Serum samples from 100 patients of ACS and 90 healthy controls were tested for the presence of Chlamydial IgG antibodies using ELISA and IIFT. To assess agreement between ELISA and IIFT, we used ‘nominal scale variables”. Agreement analysis was done using sensitivity, specificity, positive and negative predictive values (PPV and NPV and diagnostic accuracy of the test. Results: The ELISA and IIFT detected C.pneumoniae IgG antibodies in 66% and 48% respectively in patients of ACS, and 29% and 20% respectively of healthy controls. In patients of ACS, sensitivity and specificity of ELISA as compared to IIFT were 70.8% and 38.4% respectively. The PPV of ELISA for C.pneumoniae was 51.5% and NPV was 58.8%. The diagnostic accuracy of ELISA for C.pneumoniae was 54.6%. The two tests correlated in 54% of samples with a moderate agreement of =0.51. Conclusions: The results of present study indicate that ELISA test was inferior to IIFT in detecting C.pneumoniae antibodies in patients of ACS.

  6. Application of syndromic surveillance on routinely collected cattle reproduction and milk production data for the early detection of outbreaks of Bluetongue and Schmallenberg viruses.

    Science.gov (United States)

    Veldhuis, Anouk; Brouwer-Middelesch, Henriëtte; Marceau, Alexis; Madouasse, Aurélien; Van der Stede, Yves; Fourichon, Christine; Welby, Sarah; Wever, Paul; van Schaik, Gerdien

    2016-02-01

    This study aimed to evaluate the use of routinely collected reproductive and milk production data for the early detection of emerging vector-borne diseases in cattle in the Netherlands and the Flanders region of Belgium (i.e., the northern part of Belgium). Prospective space-time cluster analyses on residuals from a model on milk production were carried out to detect clusters of reduced milk yield. A CUSUM algorithm was used to detect temporal aberrations in model residuals of reproductive performance models on two indicators of gestation length. The Bluetongue serotype-8 (BTV-8) epidemics of 2006 and 2007 and the Schmallenberg virus (SBV) epidemic of 2011 were used as case studies to evaluate the sensitivity and timeliness of these methods. The methods investigated in this study did not result in a more timely detection of BTV-8 and SBV in the Netherlands and BTV-8 in Belgium given the surveillance systems in place when these viruses emerged. This could be due to (i) the large geographical units used in the analyses (country, region and province level), and (ii) the high level of sensitivity of the surveillance systems in place when these viruses emerged. Nevertheless, it might be worthwhile to use a syndromic surveillance system based on non-specific animal health data in real-time alongside regular surveillance, to increase the sense of urgency and to provide valuable quantitative information for decision makers in the initial phase of an emerging disease outbreak.

  7. Effect of saliva stabilisers on detection of porcine reproductive and respiratory syndrome virus in oral fluid by quantitative reverse transcriptase real-time PCR.

    Science.gov (United States)

    Decorte, Inge; Van der Stede, Yves; Nauwynck, Hans; De Regge, Nick; Cay, Ann Brigitte

    2013-08-01

    This study evaluated the effect of extraction-amplification methods, storage temperature and saliva stabilisers on detection of porcine reproductive and respiratory syndrome virus (PRRSV) RNA by quantitative reverse transcriptase real-time PCR (qRT-PCR) in porcine oral fluid. The diagnostic performance of different extraction-amplification methods was examined using a dilution series of oral fluid spiked with PRRSV. To determine RNA stability, porcine oral fluid, with or without commercially available saliva stabilisers, was spiked with PRRSV, stored at 4°C or room temperature and tested for the presence of PRRSV RNA by qRT-PCR. PRRSV RNA could be detected in oral fluid using all extraction-amplification combinations, but the limit of detection varied amongst different combinations. Storage temperature and saliva stabilisers had an effect on the stability of PRRSV RNA, which could only be detected for 7 days when PRRSV spiked oral fluid was kept at 4°C or stabilised at room temperature with a commercial mRNA stabiliser.

  8. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    Science.gov (United States)

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives. PMID:26905825

  9. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    Science.gov (United States)

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives.

  10. [Secondary nephrotic syndrome due to cardiovascular disease].

    Science.gov (United States)

    Hirayama, Tomoya; Takahashi, Fumihiko; Kikuchi, Kenjiro

    2004-10-01

    Cardiovascular diseases ralely evoke nephrotic syndrome. Especially hypertensive renal disease (nephroscrelosis) and renovascular hypertension occasionally may lead to nephrotic syndrome. We reported a case of nephrotic syndrome with renovascular hypertension successfully treated with candesartan. In eldery patients cardiovascular diseases are appeared. It is very important for clinicians to detect the mechanism of nephrotic syndrome caused by cardiovascular diseases. PMID:15500142

  11. POEMS综合征血清血管内皮生长因子检测意义%Detection of Vascular Endothelial Growth Factor in POEMS Syndrome

    Institute of Scientific and Technical Information of China (English)

    朱卫国; 刘淑芬; 陈嘉林; 李剑; 庄俊玲; 关鸿志; 潘慧; 曾学军

    2012-01-01

    Objective To explore the significance of vascular endothelial growth factor ( VEGF) in POEMS syndrome. Methods Thirty six serum samples of these patients who were diagnosed as POEMS syndrome in our hospital during 2005-2009 were collected. Thirty six serum samples of blood donors were collected as healthy control, and 29 serum samples of Multiple Myeloma and 7 serum samples of Guillain-Barre syndrome were collected as disease control. VEGF was detected in all groups and compared with each other. A correlation between VEGF levels and clinical manifestations was also studied. Results The mean concentration of VEGF in POEMS syndrome group, which is 982.06 ±611.49 pg/ml, was higher than healthy control group and disease control group. The diagnostic Area Under Curve ( AUC) was 0. 902, cutoff value 360. 62 pg/ml, sensitivity 0. 889, specificity 0. 764, respectively. Serum concentration of VEGF was positively correlated with pulmonary artery hypertension, while not significantly correlated with endocrinopathy, organmegaly, skin changes, pleural effusion, ascites, and papilledema Serum concentration of VEGF is positively correlated with platelets counts, while not significantly correlated with WBC, ESR or CRP. Conclusion The elevation of serum VEGF is an important characteristic of POEMS syndrome and useful in diagnosis of it Serum VEGF is positively correlated with pulmonary artery hypertension, and maybe involved in the pathogenesis of pulmonary artery hypertension in POEMS syndrome.%目的 探讨血清血管内皮生长因子(VEGF)在POEMS综合征中的临床意义.方法 采用ELISA方法检测POEMS综合征组(36例)、疾病对照组(多发性骨髓瘤29例、格林巴利综合征7例共36例)、正常对照组(36例)的血清VEGF浓度,进行组间比较,并与临床资料进行相关性分析.结果 POEMS综合征组血清VEGF浓度为(982.06±611.49)pg/ml,显著高于疾病对照组[(364.22±264.37) pg/ml]和正常对照组[(217.37±87.74 pg/ml)],P<0

  12. Selective inferior petrosal sinus sampling without venous outflow diversion in the detection of a pituitary adenoma in Cushing's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Andereggen, Lukas [Bern University Hospital, University Institute of Diagnostic and Interventional Neuroradiology, Bern (Switzerland); Bern University Hospital, Department of Neurosurgery, Bern (Switzerland); Schroth, Gerhard; Gralla, Jan; Ozdoba, Christoph [Bern University Hospital, University Institute of Diagnostic and Interventional Neuroradiology, Bern (Switzerland); Seiler, Rolf; Mariani, Luigi; Beck, Juergen; Widmer, Hans-Rudolf; Andres, Robert H. [Bern University Hospital, Department of Neurosurgery, Bern (Switzerland); Christ, Emanuel [Bern University Hospital, Division of Endocrinology, Diabetology and Clinical Nutrition, Bern (Switzerland)

    2012-05-15

    Conventional MRI may still be an inaccurate method for the non-invasive detection of a microadenoma in adrenocorticotropin (ACTH)-dependent Cushing's syndrome (CS). Bilateral inferior petrosal sinus sampling (BIPSS) with ovine corticotropin-releasing hormone (oCRH) stimulation is an invasive, but accurate, intervention in the diagnostic armamentarium surrounding CS. Until now, there is a continuous controversial debate regarding lateralization data in detecting a microadenoma. Using BIPSS, we evaluated whether a highly selective placement of microcatheters without diversion of venous outflow might improve detection of pituitary microadenoma. We performed BIPSS in 23 patients that met clinical and biochemical criteria of CS and with equivocal MRI findings. For BIPSS, the femoral veins were catheterized bilaterally with a 6-F catheter and the inferior petrosal sinus bilaterally with a 2.7-F microcatheter. A third catheter was placed in the right femoral vein. Blood samples were collected from each catheter to determine ACTH blood concentration before and after oCRH stimulation. In 21 patients, a central-to-peripheral ACTH gradient was found and the affected side determined. In 18 of 20 patients where transsphenoidal partial hypophysectomy was performed based on BIPSS findings, microadenoma was histologically confirmed. BIPSS had a sensitivity of 94% and a specificity of 67% after oCRH stimulation in detecting a microadenoma. Correct localization of the adenoma was achieved in all Cushing's disease patients. BIPSS remains the gold standard in the detection of a microadenoma in CS. Our findings show that the selective placement of microcatheters without venous outflow diversion might further enhance better recognition to localize the pituitary tumor. (orig.)

  13. A phylogenetically distinct Middle East respiratory syndrome coronavirus detected in a dromedary calf from a closed dairy herd in Dubai with rising seroprevalence with age.

    Science.gov (United States)

    Wernery, Ulrich; El Rasoul, I Hassab; Wong, Emily Y M; Joseph, Marina; Chen, Yixin; Jose, Shanty; Tsang, Alan K L; Patteril, Nissy Annie Georgy; Chen, Honglin; Elizabeth, Shyna K; Yuen, Kwok-Yung; Joseph, Sunitha; Xia, Ningshao; Wernery, Renate; Lau, Susanna K P; Woo, Patrick C Y

    2015-12-01

    Middle East respiratory syndrome coronavirus (MERS-CoV) was detected by monoclonal antibody-based nucleocapsid protein-capture enzyme-linked immunosorbent assay (ELISA), RNA detection, and viral culture from the nasal sample of a 1-month-old dromedary calf in Dubai with sudden death. Whole genome phylogeny showed that this MERS-CoV strain did not cluster with the other MERS-CoV strains from Dubai that we reported recently. Instead, it formed a unique branch more closely related to other MERS-CoV strains from patients in Qatar and Hafr-Al-Batin in Saudi Arabia, as well as the MERS-CoV strains from patients in the recent Korean outbreak, in which the index patient acquired the infection during travel in the eastern part of the Arabian Peninsula. Non-synonymous mutations, resulting in 11 unique amino acid differences, were observed between the MERS-CoV genome from the present study and all the other available MERS-CoV genomes. Among these 11 unique amino acid differences, four were found in ORF1ab, three were found in the S1 domain of the spike protein, and one each was found in the proteins encoded by ORF4b, ORF5, envelope gene, and ORF8. MERS-CoV detection for all other 254 dromedaries in this closed dairy herd was negative by nucleocapsid protein-capture ELISA and RNA detection. MERS-CoV IgG sero-positivity gradually increased in dromedary calves with increasing age, with positivity rates of 75% at zero to three months, 79% at four months, 89% at five to six months, and 90% at seven to twelve months. The development of a rapid antigen detection kit for instantaneous diagnosis is warranted.Emerging Microbes & Infections (2015) 4, e74; doi:10.1038/emi.2015.74; published online 2 December 2015.

  14. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization

    NARCIS (Netherlands)

    vanZelderenBhola, SL; BreslauSiderius, EJ; Beverstock, GC; StolteDijkstra, [No Value; DeVries, LS; DePater, JM

    1997-01-01

    We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in

  15. Joint detection of troponin T,high sensitivity C-reactive protein,N-terminal probrain natriuretic peptide applied in the diagnosis of acute coronary syndrome for elderly patients

    Institute of Scientific and Technical Information of China (English)

    赵月霞

    2012-01-01

    Objective To investigate the value of the joint detection of Troponin T(TnT) ,highsensitivity C-reactive protein (hs-CRP) and N-terminal probrain natriuretic peptide(NT-proBNP) for the clinical diagnosis of acute coronary syndrome(ACS) in elderly patients.

  16. Bi Syndrome (Arthralgia Syndrome)

    Institute of Scientific and Technical Information of China (English)

    ZHANG En-qin

    2010-01-01

    @@ The word 'Bi' (痹) in Chinese means an obstruction.Bi Syndrome refers the syndrome characterized by the obstruction of qi and blood in the meridians due to the invasion of external pathogenic wind, cold and dampness, manifested as soreness, pain, numbness,heavy sensation, swelling of joints and limbs, limitation of movements and so on.

  17. Adaptive detection and severity level characterization algorithm for Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) via oximetry signal analysis

    OpenAIRE

    Georgiou, Harris V.

    2013-01-01

    In this paper, an abstract definition and formal specification is presented for the task of adaptive-threshold OSAHS events detection and severity characterization. Specifically, a low-level pseudocode is designed for the algorithm of raw oximetry signal pre-processing, calculation of the 'drop' and 'rise' frames in the related time series, detection of valid apnea/hypopnea events via SpO2 saturation level tracking, as well as calculation of corresponding event rates for OSAHS severity charac...

  18. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  19. Real-time sequence-validated loop-mediated isothermal amplification assays for detection of Middle East respiratory syndrome coronavirus (MERS-CoV.

    Directory of Open Access Journals (Sweden)

    Sanchita Bhadra

    Full Text Available The Middle East respiratory syndrome coronavirus (MERS-CoV, an emerging human coronavirus, causes severe acute respiratory illness with a 35% mortality rate. In light of the recent surge in reported infections we have developed asymmetric five-primer reverse transcription loop-mediated isothermal amplification (RT-LAMP assays for detection of MERS-CoV. Isothermal amplification assays will facilitate the development of portable point-of-care diagnostics that are crucial for management of emerging infections. The RT-LAMP assays are designed to amplify MERS-CoV genomic loci located within the open reading frame (ORF1a and ORF1b genes and upstream of the E gene. Additionally we applied one-step strand displacement probes (OSD for real-time sequence-specific verification of LAMP amplicons. Asymmetric amplification effected by incorporating a single loop primer in each assay accelerated the time-to-result of the OSD-RT-LAMP assays. The resulting assays could detect 0.02 to 0.2 plaque forming units (PFU (5 to 50 PFU/ml of MERS-CoV in infected cell culture supernatants within 30 to 50 min and did not cross-react with common human respiratory pathogens.

  20. Development and preliminary application of an immunochromatographic strip for rapid detection of infection with porcine reproductive and respiratory syndrome virus in swine.

    Science.gov (United States)

    Li, Xue-song; Fu, Fang; Lang, Yue-kun; Li, Hai-zhong; Wang, Wei; Chen, Xin; Tian, Hua-bin; Zhou, Yan-jun; Tong, Guang-zhi; Li, Xi

    2011-09-01

    A "strip test" to detect porcine reproductive and respiratory syndrome virus (PRRSV) was established using a monoclonal antibody (MAb) 2D7 conjugated with colloidal gold. Two MAbs binding to protein N at different epitopes, 2D7 and 1G7 were obtained. In the test, samples of PRRSV bound to colloidal gold-conjugated MAb 2D7. The complex was then captured by MAb 1G7 at the test line (T) on the nitrocellulose membrane, presenting a purple band. If the sample did not contain PRRSV or if the quantity of PRRSV was less than that required for the kit, only the control line (C), in which goat anti-mouse antibody was added as the capture antibody, was present. Results from the sensitivity test of the kit demonstrated that the lowest detected quantity of PRRSV is 2.9 × 10(3)TCID(50)/ml. In clinical trials, the specificity and the sensitivity of this kit are 98.1% and 88.4%, respectively, compared with RT-PCR. Furthermore, this kit was found to be efficient in three areas of China and appears to have better results in practical applications than in empirical studies. In summary, this kit has not only high rates of specificity and sensitivity but also has the beneficial features such as efficiency, convenience and speed. PMID:21663767

  1. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Juncker, I; Persson, U;

    2001-01-01

    -linked inheritance, and 15 isolated cases. We found a mutation detection rate of 52% (42/81) (58% in males and 21% in females), and 69% (20/29) in families who clearly demonstrated X-linked inheritance. Thirty-six different mutations were found in 42 patients comprising 16 missense mutations, seven frameshifts...

  2. The metabolic syndrome and ECG detected left ventricular hypertrophy--influences from IGF-1 and IGF-binding protein-1.

    Directory of Open Access Journals (Sweden)

    Mats Halldin

    Full Text Available BACKGROUND AND AIMS: The metabolic syndrome (MetS is associated with an increased risk for left ventricular hypertrophy (LVH and cardiovascular mortality. The aim of this study was to investigate potential influences from insulin-like growth factor-1 (IGF-1 and IGF binding protein-1 (IGFBP-1 on the relationship between the MetS and LVH, also taking into account the role of physical activity (PA, use of oestrogen and gender. METHODS AND RESULTS: In a population-based cross-sectional study of 60-year-old men (n = 1822 and women (n = 2049 participants underwent physical examination and laboratory tests, including electrocardiography (ECG, and completed an extensive questionnaire. Women showed higher levels of IGFBP-1 than men (37.0 vs. 28.0 µg/l, p < 0.001, and women with LVH had lower levels of IGFBP-1 than women without LVH (31.0 µg/l vs. 37.0 µg/l, p < 0.001. Furthermore, women with low levels of IGFBP-1 had a significantly increased risk of having LVH (crude OR ≈ 2.5. When stratifying for PA and oestrogen, respectively, a weaker association between IGFBP-1 and LVH was demonstrated in physically active men and women, compared to inactive individuals, as well as in women using oestrogen, compared to non-users. CONCLUSION: In a representative sample of 60-year-old Swedish men and women, the main findings were higher levels of IGFBP-1 in women than in men; lower levels of IGFBP-1 in women with LVH, compared to women without LVH; and an increased risk of having LVH in women with low levels of IGFBP-1. The association between IGFBP-1 and LVH was diminished in physically active men and women, as well as in women using oestrogen.

  3. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  4. Detection of Early Glaucomatous Damage in Pseudo Exfoliation Syndrome by Assessment of Retinal Nerve Fiber Layer Thickness

    OpenAIRE

    Mohamed Maha

    2009-01-01

    Purpose : To detect early glaucomatous changes in pseudo exfoliative patients with normal intraocular pressure (IOP), visual field and optic nerve head appearance; by measuring retinal nerve fiber layer (RNFL) thickness using optical coherence tomography (OCT). Design : A prospective observational case-control study. Participants : Twenty non-glaucomatous (normal IOP, fundus and visual field) pseudo exfoliative patients and 20 age matched healthy control subjects. Materials and Methods...

  5. Trisomy 13 (Patau Syndrome)

    OpenAIRE

    Masoud Poureisa

    2009-01-01

    "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system. "nAbnormalities Detectable by Ultrasound "nHoloprosencephaly "nVentriculomegaly "nEnlarged cisterna magna "nMicrocephaly "nAgenesis of the corpus callosum "nCleft lip and palate "nMidface hypoplasia "nCyclopia "nMicrophthalmia "nHypotel...

  6. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  7. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  8. Rapid Detection Co-infections of Classical Swine Fever Virus and Porcine Reproductive and Respiratory Syndrome Virus by One-step Multiplex RT-PCR

    Institute of Scientific and Technical Information of China (English)

    TIAN Hong; WU Jinyan; YAN Chen; SHANG Youjun; YIN Shuanghui; LIU Xiangtao

    2011-01-01

    Classical swine fever virus (CSFV) and porcine reproductive and respiratory syndrome virus (PRRSV) have caused immense economic loss in the pig industry and are considered to be the two most important infectious diseases of pigs in the world A multiplex reverse transcription polymerase chain reaction (multiplex RT-PCR) was developed for CSFV and PRRSV co-infections or infections, respectively. A set of two pairs of primer was designed based on the sequence of nonstructural protein NS54B of CSFV and ORF7 gene of PRRSV. The diagnostic accuracy of multiplex RT-PCR assay was evaluated by using 56 field clinical samples by multiplex RT-PCR, single RT-PCR and sequence analysis; and the specificity of multiplex PCR was verified by using constructed plasmids containing the specific viral target fragments of PRRSV and CSFV, respectively. The results indicated that this assay could reliably differentiate PRRSV and CSFV in co-infection samples. The multiplex RT-PCR developed in this study might provide a new avenue to the rapid the detection of CSFV and PRRSV in one reaction.

  9. Hepatitis Delta Virus Detected in Salivary Glands of Sjögren’s Syndrome Patients and Recapitulates a Sjögren’s Syndrome-Like Phenotype in Vivo

    Science.gov (United States)

    Weller, Melodie L.; Gardener, Matthew R.; Bogus, Zoe C.; Smith, Michael A.; Astorri, Elisa; Michael, Drew G.; Michael, Donald A.; Zheng, Changyu; Burbelo, Peter D.; Lai, Zhennan; Wilson, Paul A.; Swaim, William; Handelman, Beverly; Afione, Sandra A.; Bombardieri, Michele; Chiorini, John A.

    2016-01-01

    Background Low-level, chronic viral infections have been suspect in the development of select autoimmune diseases, including primary Sjögren’s syndrome (pSS). Multiple studies have shown stimulation of antiviral response pathways in pSS tissues suggestive of a viral infection. Yet, with this data in hand, a causal link between a viral infection and development of pSS had not been identified. Therefore, a study was designed to further define the viral landscape within pSS-affected salivary gland tissue to identify potential viral-mediated triggers in the pathogenesis of this autoimmune disease. Methods A viral microarray was utilized to measure viral transcripts present in salivary gland tissue from patients diagnosed with pSS compared to healthy controls. Murine models of salivary gland localized HDV antigen expression were developed to evaluate the capacity of a chronic HDV signature to trigger the development of a pSS-like phenotype. Results Through this analysis, two distinct viral profiles were identified, including the increased presence of hepatitis delta virus (HDV) in 50% of pSS patients evaluated. Presence of HDV antigen and sequence were confirmed in minor salivary gland tissue. Patients with elevated HDV levels in salivary gland tissue were negative for detectible hepatitis B virus (HBV) surface antigen and antibodies to HBV or HDV. Expression of HDV antigens in vivo resulted in reduced stimulated saliva flow, increase in focal lymphocytic infiltrates, and development of autoantibodies. Conclusion Identification of HDV in pSS patients and induction of a complete pSS-like phenotype in vivo provides further support of a viral-mediated etiopathology in the development of pSS. PMID:27294212

  10. 妊娠中期产前筛查对唐氏综合征的临床意义%The study of detecting at mid trimester of pregnancy for screening the Downs syndrome

    Institute of Scientific and Technical Information of China (English)

    邹建话; 张修发; 江凡; 罗惠玲; 高水湾; 张慧莲

    2011-01-01

    目的 评估妊娠中期产前筛查对唐氏综合征(DS)的临床意义.方法 所有入选的2 354例孕妇进行人绒毛膜促性腺激素-β(β-HCG)、甲胎蛋白(AFP)、游离雌三醇(uE3)三个标记物的检测,检测DS高风险率并发现其与孕妇年龄等的相关性.结果 所有入选的2 354例孕妇中,DS高风险例数为92例,筛选阳性率为3.91%;年龄大于35岁组孕妇阳性率(9.3%)显著高于其他各年龄组,与其他各年龄组DS高风险阳性率比较差异有统计学意义(P<0.05).DS高风险组胎儿异常发生率要显著高于低风险组,差异有统计学意义(P<0.05).结论 β-HCG、AFP、uE3 三联标记物对检测DS阳性筛查率效果明显,高龄产妇的DS阳性筛查率显著增高.%Objective To investigate the detecting at mid trimester of pregnancy for screening the Down's syndrome.Methods All 2354 pregnant women were usedβ3 - HCG, AFP, uE3 three markets of detection, to detected Downs syndrome high - risk rate with the pregnant women and found that the related risk.Results All 2 354 women were detection, Downs syndrome, screening for 92 cases were high risk ( 3.91% ).The risk rate of women older than 35 yeats old significantly higher( 9.3 % ) than other age groups, the result was statistically significant, P < 0.05.Down's syndrome risk groups fetal abnormalities significant higher than low risk group ( P < 0.05 ).Conclusion CG, AFP, and uE3 for detecting Down's syndrome have obvious effect, women over 35 significantly higher incidences Down's syndrome.

  11. Molecular Detection and Identification of Α-L-Iduronidase Gene Mutations in 5 Iranian Families Suspected for Muller Syndrome (Mucopolysaccharidosis I

    Directory of Open Access Journals (Sweden)

    B Nasr- Esfahani

    2007-07-01

    Full Text Available Introduction: Mucopolysaccharidosis I (MPS-I is an autosomal recessive lysosomal storage diseases, caused by α-L-iduronidase (IDUA enzyme deficiency. The clinical manifestations of MPS-I patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. From when IDUA gene has been cloned more than 109 distinct mutations have been identified in it and this number is increasing. This mutation analysis has provided some molecular explanations for the range of MPS-I phenotypes. The aim of this study was identification and molecular characterization of IDUA gene mutations in our subset of MPS I patients. Methods: The present study performed on 5 Iranian families, each with a suspected child for MPS-I. Initially by using enzyme activity assay, the Hurler syndrome was verified and then presence of L123R mutation was evaluated by PCR-SSCP. Finally by PCR amplification of all 14 exons of the gene, SSCP and sequencing the mutations underlying the disease were identified and characterized. Results: The detected mutations turned to be L123R (in 2 patients, W402X, P533R and G51D mutations in other 3 patients. Discussion: L123R mutation, which was reported for the first time from our centre, was also present in 2 of the patients of this study but other 3 mutations were not novel. From our results, as well others, it can be concluded that the range of mutations in IDUA gene differ in different geographical areas. This should be considered when designing mutation detection strategies for MPS-I.

  12. Detection of underlying malignancy in patients with paraneoplastic neurological syndromes: comparison of 18F-FDG PET/CT and contrast-enhanced CT

    International Nuclear Information System (INIS)

    To determine the value of combined 18F-FDG PET/CT with diagnostic contrast-enhanced CT (CECT) in detecting primary malignancies and metastases in patients with paraneoplastic neurological syndromes (PNS) and to compare this with CECT alone. PET/CT scans from 66 patients with PNS were retrospectively evaluated. Two blinded readers initially reviewed the CECT portion of each PET/CT scan. In a second session 3 months later, the readers analysed the combined PET/CT scans. Findings on each study were assessed using a four-point-scale (1 normal/benign; 2 inconclusive, further diagnostic work-up may be necessary; 3 malignant; 4 inflammatory). Sensitivity and specificity for malignant findings were calculated for PET/CT and CECT. Interreader agreement was determined by calculating Cohen's kappa. Pooled data from clinical follow-up (including histopathology and follow-up imaging, median follow-up 20.0 months) served as the reference gold standard. Both readers classified 12 findings in ten patients (15 %) as malignant on the PET/CT scans (two patients had two primary tumours). One such imaging finding (suspected thymic cancer) was false-positive (i.e. benign histology). The most common tumours were bronchial carcinoma (n = 3), lymph node metastases of gynaecological tumours (n = 3) and tonsillar carcinoma (n = 2). Three of 12 findings (25 %) were not detected by CECT alone (cervical carcinoma, lymph node metastasis and tonsillar carcinoma). In a per-patient analysis, sensitivity and specificity for malignant findings were 100 % and 90 % for PET/CT and 78 % and 88 % for CECT. In 24 % (reader 1) and 21 % (reader 2) of the patients, the PET/CT findings were inconclusive. Of these findings, 57 % (reader 1) and 56 % (reader 2) were only diagnosed with PET (e.g. focal FDG uptake of the thyroid, gastrointestinal tract and ovaries). On follow-up, none of these findings corresponded to malignancy. Overall agreement between the two readers was excellent with a Cohen's kappa of 0.95

  13. Simultaneous and rapid detection of white spot syndrome virus and yellow head virus infection in shrimp with a dual immunochromatographic strip test.

    Science.gov (United States)

    Sithigorngul, Paisarn; Rukpratanporn, Sombat; Chaivisuthangkura, Parin; Sridulyakul, Pattarin; Longyant, Siwaporn

    2011-04-01

    A strip test for the dual detection of white spot syndrome virus (WSSV) and yellow head virus (YHV) was developed using monoclonal antibodies (MAbs) specific to the WSSV major envelope protein VP28 (W1 and W30) and the YHV nucleocapsid protein p20 (Y19 and Y21). The MAbs W30 and Y19 were conjugated with colloidal gold and sprayed onto a glass fiber pad that was placed adjacent to a sample chamber. The MAbs W1 and Y21 and the goat anti-mouse immunoglobulin G (GAM) antibody were sprayed onto a nitrocellulose membrane in strips at positions designated W, Y and C, respectively. These test strips were placed in plastic cases and stored desiccated in a plastic bag. The test strips were assessed for their ability to detect WSSV and YHV simultaneously using pleopods sampled from shrimp. A pleopod homogenate in application buffer 100μl was applied to the sample chamber to flow through the nitrocellulose membrane strip, and antibody-protein complexes could be observed within 15min. In sample from shrimp infected with WSSV and/or YHV, viral protein bound to the colloidal gold-conjugated MAbs. These complexes were captured by the MAbs at the W and/or Y test lines, resulting in the appearance of reddish-purple coloured bands. Any unbound colloidal gold-conjugated MAbs migrated pass the W and Y lines would be captured by the GAM antibody, forming a band at position C. When samples not containing WSSV and YHV proteins or containing viral proteins at below the detection limit of the test, only the band at position C was observed. The sensitivity of the test was comparable to dot blot tests using single MAbs, and ∼500-fold less sensitive than a 1-step PCR test for WSSV and 1000-fold less sensitive than an RT-PCR test for YHV. Despite this lower sensitivity, the dual strip test has advantages in speed and simplicity in not requiring sophisticated equipment or specialized skills. The ability to co-detect WSSV and YHV provides simultaneously cost savings. PMID:21256869

  14. Schwangerschafts Protein 1 (SP1) adds little to the age-related detection of fetal Down syndrome in the first trimester of pregnancy

    NARCIS (Netherlands)

    Kornman, LH; Morssink, LP; Ten Hoor, KA; De Wolf, BTHM; Kloosterman, MD; Beekhuis, [No Value; Mantingh, A

    1998-01-01

    Schwangerschafts Protein 1 (SP1), being a placental protein appearing in the maternal circulation early in pregnancy, has been investigated as a potential marker for Down syndrome in the first trimester. Our study compared SP1 levels in 15 pregnancies with a Down syndrome fetus and 97 matched contro

  15. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette Hansen; Krag, Kirstine Stochholm; Uldbjerg, Niels;

    2015-01-01

    and placenta weights than non-SCA controls (both P = 0.0001). A few SCA cases localized in DCCR could not be found in DFMD (n = 16). LIMITATIONS, REASON FOR CAUTION: Controls were matched on sex of the fetus of cases, meaning that all electively aborted fetuses (before week 12) were excluded, possibly reducing...... the diversity in the control group. We were not able to localize all diagnosed cases of SCA and DS in DFMD. Although these cases were present in DCCR, we were not able to account for the discrepancy. In addition, we suspect that several SCA children have not been diagnosed yet and future post-natal diagnosis...... have not been determined. No clear trend in PAPP-A, free beta human chorionic gonadotropin (β-hCG) and NT has been found in the remaining SCAs. Several lines of inquiry suggest that it would be advantageous for individuals with SCA to be detected early in life, leading to prevention or treatment...

  16. Using peripheral blood circulating DNAs to detect CpG global methylation status and genetic mutations in patients with myelodysplastic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Iriyama, Chisako [Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya (Japan); Tomita, Akihiro, E-mail: atomita@med.nagoya-u.ac.jp [Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya (Japan); Hoshino, Hideaki; Adachi-Shirahata, Mizuho [Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya (Japan); Furukawa-Hibi, Yoko; Yamada, Kiyofumi [Department of Neuropsychopharmacology and Hospital Pharmacy, Nagoya University School of Medicine, Nagoya (Japan); Kiyoi, Hitoshi; Naoe, Tomoki [Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya (Japan)

    2012-03-23

    Highlights: Black-Right-Pointing-Pointer Circulating DNAs (CDs) can be used to detect genetic/epigenetic abnormalities in MDS. Black-Right-Pointing-Pointer Epigenetic changes can be detected more sensitively when using plasma DNA than PBMNC. Black-Right-Pointing-Pointer Mutation ratio in CDs may reflect the ratio in stem cell population in bone marrow. Black-Right-Pointing-Pointer Using CDs can be a safer alternate strategy compared to bone marrow aspiration. -- Abstract: Myelodysplastic syndrome (MDS) is a hematopoietic stem cell disorder. Several genetic/epigenetic abnormalities are deeply associated with the pathogenesis of MDS. Although bone marrow (BM) aspiration is a common strategy to obtain MDS cells for evaluating their genetic/epigenetic abnormalities, BM aspiration is difficult to perform repeatedly to obtain serial samples because of pain and safety concerns. Here, we report that circulating cell-free DNAs from plasma and serum of patients with MDS can be used to detect genetic/epigenetic abnormalities. The plasma DNA concentration was found to be relatively high in patients with higher blast cell counts in BM, and accumulation of DNA fragments from mono-/di-nucleosomes was confirmed. Using serial peripheral blood (PB) samples from patients treated with hypomethylating agents, global methylation analysis using bisulfite pyrosequencing was performed at the specific CpG sites of the LINE-1 promoter. The results confirmed a decrease of the methylation percentage after treatment with azacitidine (days 3-9) using DNAs from plasma, serum, and PB mono-nuclear cells (PBMNC). Plasma DNA tends to show more rapid change at days 3 and 6 compared with serum DNA and PBMNC. Furthermore, the TET2 gene mutation in DNAs from plasma, serum, and BM cells was quantitated by pyrosequencing analysis. The existence ratio of mutated genes in plasma and serum DNA showed almost equivalent level with that in the CD34+/38- stem cell population in BM. These data suggest that genetic

  17. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  18. Karyotyping and fluorescence in situ hybridization detection in 79 cases of Turner's syndrome%79例Turner综合征染色体核型及荧光原位杂交分析

    Institute of Scientific and Technical Information of China (English)

    吴玥丽; 赵晖; 赵玲; 胡玉芬; 贾莉婷; 张展

    2011-01-01

    Objective To analyze the distribution of various chromosome karyotypes and the association with the cytogenetic characteristics as well as the clinical manifestation in Turner's syndrome. Methods Peripheral blood lympholeukocyte culture and karyotyping were used to analyze chromosomal karyotype in 79 cases of Turner's syndrome, and fluorescence in situ hybridization detection was used to confirm the samples which contains Y-chromosome and idic(X). Results In 79 cases of Turner's syndrome, 18 kinds of different karyotypes were detected with the method of karyotyping, fluorescence in situ hybridization detection showed that the 46, XY and idic(X) cases contained Y-chromosome and double-centromere X-chromosome actually. Conclusion The number and structural mutation of chromosom X are various in Turner's syndrome, among which the karyotypes of XO and I(Xq) occur most frequently.%目的:探讨Turner综合征不同核型的细胞遗传学特征、分布情况及临床表现。方法:对79例Turner综合征患者进行外周血淋巴细胞培养及染色体核型分析,部分患者结合荧光原位杂交检测。结果:79例中共检出18种不同类型核型,其中含Y及双着丝粒idic(X)的核型均经荧光原位杂交检测证实为Y染色体及双着丝粒X染色体。结论:Turner综合征中X染色体数目及结构变异多样,其中以XO及i(Xq)较为常见。

  19. 68Ga DOTANOC PET/CT aiding in the diagnosis of von Hippel-Lindau syndrome by detecting cerebellar hemangioblastoma and adrenal pheochromocytoma.

    Science.gov (United States)

    Mukherjee, Anirban; Karunanithi, Sellam; Bal, Chandrasekhar; Kumar, Rakesh

    2014-10-01

    A 35-year-old man with clinical suspicion of adrenal pheochromocytoma was evaluated using Ga DOTANOC PET/CT. PET/CT demonstrated Ga DOTANOC-avid right adrenal mass and cerebellar lesion, raising the suspicion of adrenal pheochromocytoma with cerebellar hemangioblastoma suggesting von Hippel-Lindau (VHL) syndrome. Cerebellar lesion on further evaluation with MRI was suggestive of cerebellar hemangioblastoma. Surgical resection of the adrenal mass revealed pheochromocytoma, and genetic analysis revealed mutation involving the chromosome 3p, confirming the diagnosis of VHL syndrome. Ga DOTANOC PET/CT in our patient helped in the diagnosis of VHL syndrome and changed the disease management. PMID:24999687

  20. Detection and functional annotation of misregulated microRNAs in the brain of the Ts65Dn mouse model of Down syndrome

    Institute of Scientific and Technical Information of China (English)

    HE Xiang-jun; XIAO Yun; ZHANG Qi; MA Li-ping; LI Na; YANG Jing

    2013-01-01

    Background Brain hypoplasia and mental retardation in Down syndrome (DS) can be attributed to a severe and selective disruption of neurogenesis.Secondary disruption of the transcriptome,as well as primary gene dosage imbalance,is responsible for the phenotype.MicroRNA (miRNA) expression is relatively abundant in brain tissue.Perturbed miRNA expression might contribute to the cellular events underlying the pathology in DS.Methods MiRNA expression profiles in the cerebrum of Ts65Dn mice,a DS model,were examined with a real-time RT-PCR array.MiRNA target gene expression was detected by real-time quantitative PCR and Western blotting.Based on the prediction of their cerebrum-specific targets,the functions of the misregulated miRNAs were annotated by Gene Ontology (GO) enrichment analysis.Results A total of 342 miRNAs were examined.Among them,20 miRNAs showed decreased expression in the brains of Ts65Dn mice,and some of these belonged to the same family.Two known targets of the miR-200 family,Lfng and Zeb2,were specifically selected to compare their expression in the cerebrum of Ts65Dn mice with those of euploids.However,no significant difference was found in terms of mRNA and protein expression levels of these genes.By enrichment analysis of the cerebrum-specific targets of each miRNA,we found that 15 of the differential miRNAs could significantly affect target genes that were enriched in the GO biological processes related to nervous system development.Conclusion Perturbed expression of multiple functionally cooperative miRNAs contributes to the cellular events underlying the pathogenesis of DS.

  1. Pulse Oximetry for the Detection of Obstructive Sleep Apnea Syndrome: Can the Memory Capacity of Oxygen Saturation Influence Their Diagnostic Accuracy?

    Directory of Open Access Journals (Sweden)

    Carlos A. Nigro

    2011-01-01

    Full Text Available Objective. To assess the diagnostic ability of WristOx 3100 using its three different recording settings in patients with suspected obstructive sleep apnea syndrome (OSAS. Methods. All participants (135 performed the oximetry (three oximeters WristOx 3100 and polysomnography (PSG simultaneously in the sleep laboratory. Both recordings were interpreted blindly. Each oximeter was set to one of three different recording settings (memory capabilities 0.25, 0.5, and 1 Hz. The software (nVision 5.1 calculated the adjusted O2 desaturation index-mean number of O2 desaturation per hour of analyzed recording ≥2, 3, and 4% (ADI2, 3, and 4. The ADI2, 3, and 4 cutoff points that better discriminated between subjects with or without OSAS arose from the receiver-operator characteristics (ROCs curve analysis. OSAS was defined as a respiratory disturbance index (RDI ≥ 5. Results. 101 patients were included (77 men, mean age 52, median RDI 22.6, median BMI 27.4 kg/m2. The area under the ROCs curves (AUC-ROCs of ADI2, 3, and 4 with different data storage rates were similar (AUC-ROCs with data storage rates of 0.25/0.5/1 Hz: ADI2: 0.958/0.948/0.965, ADI3: 0.961/0.95/0.966, and ADI4: 0.957/0.949/0.963, P NS. Conclusions. The ability of WristOx 3100 to detect patients with OSAS was not affected by the data storage rate of the oxygen saturation signal. Both memory capacity of 0.25, 0.5, or 1 Hz showed a similar performance for the diagnosis of OSAS.

  2. Early Detection of Regional and Global Left Ventricular Myocardial Function Using Strain and Strain-rate Imaging in Patients with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Qin Wang

    2015-01-01

    Full Text Available Background: Strain and strain-rate imaging (SRI have been found clinically useful in the assessment of cardiac systolic and diastolic function as well as providing new insights in deciphering cardiac physiology and mechanics in cardiomyopathies, and identifying early subclinical changes in various pathologies. The aim of this study was to evaluate the regional and global left ventricular (LV myocardial function in metabolic syndrome (MS with SRI so that we can provide more myocardial small lesions in patients with MS, which is robust and reliable basis for early detection of LV function. Methods: Thirty-nine adults with MS were enrolled in the study. There was a control group of 39 healthy adults. In addition to classic echocardiographic assessment of LV global functional changes, SRI was used to evaluate regional and global LV function. Including: Peak systolic strain (S, peak systolic strain-rate (SR-s, peak diastolic strain-rate (SR-e. Results: There were no statistically significant differences between MS and controls in all traditional parameters of LV systolic function. On the other hand, significant differences were observed between MS and the control group in most of the parameters of S, SR-s, SR-e in regional LV function. Multiple stepwise regression analyses revealed that S and SR significantly were negatively correlated with blood pressure, waist circumference, fasting plasma glucose, uric acid, suggesting that risk factories were relevant to regional systolic dysfunction. Conclusion: In MS with normal LV ejection fraction, there was regional myocardial dysfunction, risk factors contributed to the impairment of systolic and diastolic function of the regional myocardium. Assessment of myocardial function using SRI could be more accurate in MS patient evaluation than conventional echocardiography alone.

  3. Early Detection of Regional and Global Left Ventricular Myocardial Function Using Strain and Strain-rate Imaging in Patients with Metabolic Syndrome

    Institute of Scientific and Technical Information of China (English)

    Qin Wang; Qi-Wei Sun; Dan Wu; Ming-Wu Yang; Rong-Juan Li; Bo Jiang; Jiao Yang

    2015-01-01

    Background:Strain and strain-rate imaging (SRI) have been found clinically useful in the assessment of cardiac systolic and diastolic function as well as providing new insights in deciphering cardiac physiology and mechanics in cardiomyopathies,and identifying early subclinical changes in various pathologies.The aim of this study was to evaluate the regional and global left ventricular (LV) myocardial function in metabolic syndrome (MS) with SRI so that we can provide more myocardial small lesions in patients with MS,which is robust and reliable basis for early detection of LV function.Methods:Thirty-nine adults with MS were enrolled in the study.There was a control group of 39 healthy adults.In addition to classic echocardiographic assessment of LV global functional changes,SRI was used to evaluate regional and global LV function.Including:Peak systolic strain (S),peak systolic strain-rate (SR-s),peak diastolic strain-rate (SR-e).Results:There were no statistically significant differences between MS and controls in all traditional parameters of LV systolic function.On the other hand,significant differences were observed between MS and the control group in most of the parameters of S,SR-s,SR-e in regional LV function.Multiple stepwise regression analyses revealed that S and SR significantly were negatively correlated with blood pressure,waist circumference,fasting plasma glucose,uric acid,suggesting that risk factories were relevant to regional systolic dysfunction.Conclusion:In MS with normal LV ejection fraction,there was regional myocardial dysfunction,risk factors contributed to the impairment of systolic and diastolic function of the regional myocardium.Assessment of myocardial function using SRI could be more accurate in MS patient evaluation than conventional echocardiography alone.

  4. Turner Syndrome

    Science.gov (United States)

    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 ...

  5. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  6. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  7. Turner Syndrome

    Science.gov (United States)

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

  8. National Down Syndrome Society

    Science.gov (United States)

    ... info@ndss.org Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... More » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  9. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  10. Motor Impairments in Angelman Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-04-01

    Full Text Available Of 33 children and adolescents (median age 6 years investigated for learning disability, epilepsy, and motor dysfunction to detect suspected Angelman syndrome (AS, in a study at Goteborg University, Sweden, 23 fulfilled criteria for AS.

  11. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  12. Detection of serum 25(OH)-vitamin D level in the serum of women with fibromyalgia syndrome and its relation to pain severity

    OpenAIRE

    Alaa A Elaziz Labeeb; Dina R Al-Sharaki

    2015-01-01

    Objective The aim of our study is to determine serum 25(OH)-vitamin D level in patients with fibromyalgia syndrome and its relation to pain. Patients and methods Fifty-three women with fibromyalgia syndrome diagnosed according to the American College of Rheumatology 1990 fibromyalgia diagnostic criteria and 50 age-matched healthy women as a control group were included in this study. Serum 25(OH)-vitamin D levels were determined in both the patient and the control groups. Fibromyalgi...

  13. Detección de un caso de síndrome de Williams-Beuren por MLPA Detection of a Williams Beuren syndrome case by MLPA

    Directory of Open Access Journals (Sweden)

    Sergio Laurito

    2013-02-01

    Full Text Available El síndrome de Williams-Beuren (WBS es un trastorno del desarrollo neurológico que incluye diferentes manifestaciones clínicas como estenosis aórtica supravalvular, lesiones cerebrovasculares, retraso en el crecimiento, rasgos faciales "élficos" y retraso mental. Es causado por una microdeleción heterocigótica de genes contiguos en la banda cromosómica 7q11.23, generando un cambio en el número de copias (CNV de esta región crítica. Los pacientes presentan una amplia manifestación clínica y variada expresión fenotípica. La confirmación de la sospecha clínica es esencial para el seguimiento clínico del paciente y el asesoramiento genético de la familia. La técnica estándar para la detección de WBS es la hibridización fluorescente in situ. En los últimos años la metodología MLPA (Multiplex Ligation dependent Probe Amplification ha sido incorporada a los laboratorios diagnósticos para la detección de CNV relacionados con distintas enfermedades, incluyendo WBS. El objetivo de este trabajo fue confirmar el diagnóstico clínico de WBS en un niño, utilizando la técnica de MLPA. Los ensayos por MLPA permitieron detectar la deleción de los genes CYLN2, FZD9, STX1A, ELN, LIMK1y RFC2. En regiones geográficas donde la determinación por FISH (Fluorescence In Situ Hybridization no está disponible para esta enfermedad, la metodología MLPA ha permitido confirmar el diagnóstico clínico y detectar los genes involucrados en la alteración. Hasta nuestro conocimiento no hay otros casos publicados sobre síndrome de WB detectado por la técnica MLPA en la Argentina.Williams-Beuren syndrome (WBS is a rare developmental disorder characterized by distinctive facial, neurobehavioral, and cardiovascular features. WBS is caused by a heterozygous contiguous gene microdeletion of the WBS crítical region on chromosome 7q11.23. Confirmation of clinical suspicion is essential for clinical monitoring of the patient and genetic counseling of

  14. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

    Science.gov (United States)

    Dasouki, Majed; Okonkwo, Kingsley C; Ray, Abhishek; Folmsbeel, Caspian K; Gozales, Diana; Keles, Sevgi; Puck, Jennifer M; Chatila, Talal

    2011-11-01

    Loss of function of DOCK8 is the major cause of autosomal recessive hyper IgE syndrome, a primary immunodeficiency with adaptive and innate immune dysfunction. Patients affected with ARHIES have atopic dermatitis and recurrent, potentially life-threatening viral and bacterial infections. Three consanguineous Pakistani siblings presented with severe atopic dermatitis and superinfection. Direct sequencing of DOCK8 in all three affected siblings demonstrated homozygosity for a deleterious, novel exon 14 frame shift mutation. Current newborn screening for severe combined immunodeficiency syndrome (SCID) and related T cell disorders relies on the quantitation of T Cell Receptor Excision Cells (TRECs) in dried blood spots (DBS). Significantly, both older affected siblings had undetectable TRECs, and TREC copy number was reduced in the youngest sibling. These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID. PMID:21763205

  15. Refeeding syndrome.

    Science.gov (United States)

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

    2009-01-01

    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.

  16. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  17. Role of Non-Invasive Detection of DNA in Prenatal Screening for Down's Syndrome%无创DNA检测在唐氏综合征产前筛查中的作用

    Institute of Scientific and Technical Information of China (English)

    侯朝晖; 刘华平; 陈冰; 李秀军; 任东平; 任力; 郭晓东

    2013-01-01

    目的:通过比较无创DNA检测和孕中期血清学筛查两种方法的筛查阳性率,从而肯定无创DNA检测在唐氏综合征产前筛查中的实用价值.方法:对500例单胎孕妇进行血清标记物(AFP+β-HCG)-联指标检测,应用配套软件计算唐氏综合征风险;对496例孕妇外周血中的游离DNA片段(含胎儿游离DNA)进行高通量测序,并将测序结果进行生物信息学分析,得出胎儿发生染色体非整倍体的风险率,并追踪胎儿和孕妇的情况.结果:唐氏综合征血清筛查组高危孕妇22例、阳性率为4.4%,假阳性率4.2%;无创DNA检测组筛查阳性孕妇3例,阳性率为0.6%,唐氏综合征检出率为100%.两种方法用于唐氏综合征产前筛查的差异有显著性(P<0.01).结论:无创DNA检测适用范围广、准确率高,是产前筛查是唐氏综合征的有效方法.%Objective: To compare the non-invasive detection of DNA and second trimester serum screening positive rate of screening of two methods, which must be non-invasive detection of DNA in prenatal screening for Down's syndrome practical value. Methods: 500 cases single fetal pregnant women were detected respectively serum mark object ( afp+ beta -hcg ), using software to calculate the risk of Down's syndrome. 496 cases of pregnant women were chosen to detect the free DNA fragment of peripheral blood ( with fetal free DNA) was sequenced and analyzed, then fetal chromosome aneuploid of risk rate was obtained, and followed up fetal and pregnant women. Results: Serum screening for Down's syndrome group of 22 patients with high risk pregnant women, the positive rate was 4.4%, a false positive rate of 4.2%; non-invasive detection of DNA groups screen-positive pregnant women in 3 cases, the positive rate was 0.6%, Down's syndrome detection rates was 100%. There were significant differences of prenatal screening for Down' s syndrome by these two methods (P<0.01 ). Conclusions: Non - invasive detection of DNA

  18. Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations.

    Science.gov (United States)

    V G, Abilash; S, Radha; K M, Marimuthu; K, Thangaraj; S, Arun; S, Nishu; A, Mohana Priya; J, Meena; D, Anuradha

    2016-01-30

    Rare cases of 9 complete androgen insensitivity syndromes, 9 cases of partial androgen insensitivity syndromes and equal number of male control samples were selected for this study. Few strong variations in clinical features were noticed; Giemsa banded metaphase revealed a 46,XY karyotype and the frequency of chromosome aberrations were significantly higher when compared with control samples. DNA sequence analysis of the androgen receptor gene of androgen insensitivity syndromes revealed three missense mutations - c.C1713>G resulting in the replacement of a highly conserved histidine residue with glutamine p.(His571Glu) in DNA-binding domain, c.A1715>G resulting in the replacement of a highly conserved tyrosine residue with cysteine p.(Tyr572Cys) in DNA-binding domain and c.G2599>A resulting in the replacement of a highly conserved valine residue with methionine p.(Val867Met) in ligand-binding domain of androgen receptor gene respectively. The heterozygous type of mutations c.C1713>G and c.G2599>A observed in mothers of the patients for familial cases concluding that the mutation was inherited from the mother. The novel mutation c.C1713>G is reported first time in androgen insensitivity syndrome. In-silico analysis of mutations observed in androgen receptor gene of androgen insensitivity syndrome predicted that the substitution at Y572C and V867M could probably disrupt the protein structure and function. PMID:26688387

  19. Effect of Jian-Pi-Zhi-Dong Decoction on striatal glutamate and γ-aminobutyric acid levels detected using microdialysis in a rat model of Tourette syndrome

    Directory of Open Access Journals (Sweden)

    Zhang W

    2016-05-01

    Full Text Available Wen Zhang,1,* Li Wei,2,* Wenjing Yu,1 Xia Cui,1 Xiaofang Liu,2 Qian Wang,1 Sumei Wang2 1Department of Pediatrics, The Third Affiliated Hospital, 2Department of Pediatrics, Dongfang Hospital, Beijing University of Chinese Medicine, Beijing, People’s Republic of China *These authors contributed equally to this work Background: Jian-Pi-Zhi-Dong Decoction (JPZDD is a dedicated treatment of Tourette syndrome (TS. The balance of neurotransmitters in the cortico-striato-pallido-thalamo-cortical network is crucial to the occurrence of TS and related to its severity. This study evaluated the effect of JPZDD on glutamate (Glu and γ-aminobutyric acid (GABA and their receptors in a TS rat model.Materials and methods: Rats were divided into four groups (n=12 each. TS was induced in three of the groups by injecting them with 3,3'-iminodipropionitrile for 7 consecutive days. Two model groups were treated with tiapride (Tia or JPZDD, while the control and the remaining model group were gavaged with saline. Behavior was assessed by stereotypic score and autonomic activity. Striatal Glu and GABA contents were detected using microdialysis. Expressions of N-methyl-D-aspartate receptor 1 and GABAA receptor (GABAAR were observed using Western blot and real-time polymerase chain reaction.Results: Tia and JPZDD groups had decreased stereotypy compared with model rats; however, the JPZDD group showed a larger decrease in stereotypy than the Tia group at a 4-week time point. In a spontaneous activity test, the total distance of the JPZDD and Tia groups was significantly decreased compared with the model group. The Glu levels of the model group were higher than the control group and decreased with Tia or JPZDD treatment. The GABA level was higher in the model group than the control group. Expressions of GABAAR protein in the model group were higher than in the control group. Treatment with Tia or JPZDD reduced the expression of GABAAR protein. In the case of the m

  20. Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.

    Science.gov (United States)

    Shin, Eun-Hye; Cho, Eunhae; Lee, Cha Gon

    2016-08-01

    Temple syndrome (TS, MIM 616222) is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. TS is a genetically complex disorder, which is associated with maternal uniparental disomy of chromosome 14 (UPD14), paternal deletions on chromosome 14, or loss of methylation at the intergenic differentially methylated region (IG-DMR). Here, we describe the case of a patient with maternal hetero-UPD14, mixed iso-/hetero-disomy mechanism identified by a single nucleotide polymorphism (SNP) array analysis of patient-father duos study. The phenotype of our case is similarities to Prader-Willi syndrome (PWS) during infancy and to Russell-Silver syndrome (RSS) during childhood. This SNP array appears to be an effective initial screening tool for patients with nonspecific clinical features suggestive of chromosomal disorders. PMID:26867509

  1. Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

    Directory of Open Access Journals (Sweden)

    Diana C. Darcy

    2011-01-01

    Full Text Available We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH. Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.

  2. Cone rod dystrophies.

    Science.gov (United States)

    Hamel, Christian P

    2007-01-01

    Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in rod photoreceptors and later followed by the secondary loss in cone photoreceptors, CRDs reflect the opposite sequence of events. CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. The clinical course of CRDs is generally more severe and rapid than that of RCDs, leading to earlier legal blindness and disability. At end stage, however, CRDs do not differ from RCDs. CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar Ataxia Type 7 (SCA7). Non syndromic CRDs are genetically heterogeneous (ten cloned genes and three loci have been identified so far). The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs). It is likely that highly deleterious mutations in genes that otherwise cause RP or macular dystrophy may also lead to CRDs. The diagnosis of CRDs is based on clinical history, fundus examination and electroretinogram. Molecular diagnosis can be made for some genes, genetic counseling is always advised. Currently

  3. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

    Science.gov (United States)

    Botta, A; Novelli, G; Mari, A; Novelli, A; Sabani, M; Korenberg, J; Osborne, L; Digilio, M; Giannotti, A; Dallapiccola, B

    1999-01-01

    We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.


Keywords: Williams syndrome; elastin; syntaxin; frizzled PMID:10874638

  4. Application evaluation of noninvasive DNA detection in the prenatal screening of fetal Down syndrome%无创DNA检测在胎儿唐氏综合征产前筛查中的应用评价

    Institute of Scientific and Technical Information of China (English)

    王慧; 熊敏; 韩宝良; 江德洋

    2016-01-01

    目的:评价无创 DNA 检测在诊断唐氏综合征中的应用价值。方法:807例单胎孕妇分为高龄组、高危组、中危组,进行无创DNA检测,得出胎儿发生唐氏综合征的风险率。结果:高龄组121例孕妇中21三体阳性3例,高危组388例中4例,中危组298例中0例。7例阳性者经羊水穿刺及胎儿染色体核型分析证实为21三体阳性。625例阴性者出生后无唐氏综合征。结论:产前孕妇外周血中胎儿游离DNA检测对于唐氏综合征的产前诊断具有创伤小、安全、检出率及准确率高等优点。%Objective:To evaluate the application value of noninvasive DNA detection in the diagnosis of Down syndrome. Methods:807 cases of singleton pregnant women were divided into the elderly group,the high risk group,the middle risk group. They were given noninvasive DNA detection.The risk ratio of fetal Down syndrome was obtained.Results:3 cases were 21 three body positive in 121 pregnant women of the elderly group.4 cases were positive in 388 cases of the high risk group.0 case was positive in 298 cases of the middle risk group.7 positive cases were three body positive that were confirmed by amniotic fluid puncture and fetal karyotype analysis.625 negative cases had no Down syndrome after birth.Conclusion:Prenatal fetal free DNA detection in peripheral blood of pregnant women has the advantages of small trauma,safety,high detection rate and accuracy rate in the prenatal diagnosis of Down syndrome.

  5. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  6. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  7. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  8. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  9. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  10. 应用实时荧光定量PCR快速分子诊断唐氏综合征%Application of real-time fluorescence quantitative PCR to rapid molecular detection of Down's syndrome

    Institute of Scientific and Technical Information of China (English)

    黄以宁; 廖灿; 涂新枝; 杨昕; 易翠兴; 黎丽仙

    2005-01-01

    目的探讨一种快速、准确诊断唐氏综合征的方法.方法采用实时荧光定量PCR技术,对25例唐氏患者、50名正常人外周血标本,扩增21号及1号、19号染色体上的多态位点,定量分析比较正常组及唐氏患者组的4对△Ct值.结果唐氏患者组△Ct值明显低于正常组,两组比较差异有统计学意义(P<0.001).初步建立了临床应用的参考值范围,可以有效区分出唐氏样本和正常样本.结论应用实时荧光定量PCR技术可快速、准确诊断唐氏综合征,为唐氏综合征的快速产前诊断开辟了新的途径.%Objective To develop a rapid and reliable technique for the detection of Down's syndrome. Methods The peripheral blood samples were collected from twenty-five Down's syndrome patients and fifty normal individuals. Four polymorphic loci on chromosomes 21, 1, 19 were anplified by real-time fluorescence quantitative PCR, and then four pairs of △Ct values were analytically compared between the two groups. Results The △Ct values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical applica tion were primarily established. The difference between the two groups was highly significant ( P < 0.001 ), and the ref erence ranges between the two groups were not overlapped. Real-time quantitative PCR technique can effectively differentiates Down's syndrome samples from the normal fetuses; furthermore, the results were consistent with those of the karyotype analysis. Conclusion Real-time quantitative PCR is a fast and reliable method that may provide a new approach for rapid detection of Down's syndrome.

  11. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  12. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  13. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing

    DEFF Research Database (Denmark)

    Martin, P; Heiskari, N; Zhou, J;

    1998-01-01

    Approximately 85% of patients with Alport syndrome (hereditary nephritis) have been estimated to have mutations in the X chromosomal COL4A5 collagen gene; the remaining cases are autosomal with mutations in the COL4A3 or COL4A4 genes located on chromosome 2. In the present work, the promoter sequ...

  14. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene

    DEFF Research Database (Denmark)

    Ottesen, A M; Garn, I D; Aksglaede, L;

    2007-01-01

    Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis. Here, we report on the development and detailed clinical validation of a quantitative real-time PCR (qPCR)-based method of the...

  15. Porcine reproductive and respiratory syndrome virus: Interlaboratory ring trial to evaluate real-time reverse transcription polymerase chain reaction detection methods

    DEFF Research Database (Denmark)

    Wernike, Kerstin; Bonilauri, Paolo; Dauber, Malte;

    2012-01-01

    To compare the real-time reverse transcription quantitative polymerase chain reaction (RT-qPCR) assays used for the diagnosis of Porcine reproductive and respiratory syndrome virus (PRRSV), a Europe-wide interlaboratory ring trial was conducted. A variety of PRRSV strains including North American...

  16. The value of Measuring Urinary β2-Microglobulin and Serum Creatinine for Detecting Tubulointerstitial Nephritis and Uveitis Syndrome in Young Patients with Uveitis

    NARCIS (Netherlands)

    Hettinga, YM; Scheerlinck, Laura; Lilien, Marc; Rothova, Aniki; de Boer, JH

    2015-01-01

    IMPORTANCE Tubulointerstitial nephritis and uveitis (TINU) syndrome is characterized by tubulointerstitial and ocular inflammation. Thus far, the value of noninvasive diagnostic tests is not known. OBJECTIVE To determine whether urinary β2-microglobulin (β2M), urinary protein, and serum creatinine h

  17. In situ hybridisation detects pro-apoptotic gene expression of a Bcl-2 family member in white syndrome-affected coral.

    Science.gov (United States)

    Ainsworth, T D; Knack, B; Ukani, L; Seneca, F; Weiss, Y; Leggat, W

    2015-12-01

    White syndrome has been described as one of the most prolific diseases on the Great Barrier Reef. Previously, apoptotic cell death has been described as the mechanism driving the characteristic rapid tissue loss associated with this disease, but the molecular mechanisms controlling apoptotic cell death in coral disease have yet to be investigated. In situ methods were used to study the expression patterns of 2 distinct regulators of apoptosis in Acropora hyacinthus tissues undergoing white syndrome and apoptotic cell death. Apoptotic genes within the Bcl-2 family were not localized in apparently healthy coral tissues. However, a Bcl-2 family member (bax-like) was found to localize to cells and tissues affected by white syndrome and those with morphological evidence for apoptosis. A potential up-regulation of pro-apoptotic or bax-like gene expression in tissues with apoptotic cell death adjacent to disease lesions is consistent with apoptosis being the primary cause of rapid tissue loss in coral affected by white syndrome. Pro-apoptotic (bax-like) expression in desmocytes and the basal tissue layer, the calicodermis, distant from the disease lesion suggests that apoptosis may also underlie the sloughing of healthy tissues associated with the characteristic, rapid spread of tissue loss, evident of this disease. This study also shows that in situ hybridisation is an effective tool for studying gene expression in adult corals, and wider application of these methods should allow a better understanding of many aspects of coral biology and disease pathology. PMID:26648107

  18. Shaken Baby Syndrome: a review.

    Science.gov (United States)

    Mian, Maha; Shah, Janki; Dalpiaz, Amanda; Schwamb, Richard; Miao, Yimei; Warren, Kelly; Khan, Sardar

    2015-06-01

    Shaken Baby Syndrome occurs in infants as a result of the brain pushing against the skull due to severe acceleration-deceleration forces. Symptoms of Shaken Baby Syndrome include subdural, subarachnoid, and retinal hemorrhages. MRI and ocular examinations are used to determine the extent of mental and visual damage and β-amyloid precursor protein immunohistochemical staining is used to detect axonal injuries. Surgeries such as Subdural hemorrhage (SDH) evacuation surgery and the Burr hole craniotomy are used to treat Shaken Baby Syndrome; however, the prognosis is poor in many cases. Because of the severity of Shaken Baby Syndrome and its traumatic and sometimes fatal effects, it is important to educate new parents, nurses, and doctors on the syndrome in order to prevent incidents.

  19. CANCER PREDISPOSITION SYNDROMES IN CHILDREN

    Directory of Open Access Journals (Sweden)

    M. Bajoghli

    2012-05-01

    Full Text Available The term cancer predisposition syndrome (CPSincludes several familial cancers in which a clear mode of inheritance may be established, although a specific gene defect has not been described in all cases.Advance in genetics and the development of new imaging have led to better understanding and early detection of these syndromes and offer the diagnosis of any associated tumors. As a result, imaging has become an essential component to management of CPSs and the care ofchildren with neurofibromatosis type I, Beckwith- Wiedemann syndrome, Von Hippel-Lindau (VHL, multiple endocrine neoplasia (MEN, familial adenomatous polyp and other syndromes. A radiologist should be familiar with these syndromes, their common associated tumors and thenew imaging techniques that are available to optimize the assessment of affected children.Of course recent advance in genetics has led to better understanding and early recongnition of these diseases and proper genetic counseling helps these patients.

  20. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  1. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep;

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  2. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  3. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  4. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

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

  5. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  6. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  7. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  8. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  9. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  10. Capsule contraction syndrome

    Directory of Open Access Journals (Sweden)

    Mesut COŞKUN

    2009-06-01

    Full Text Available Capsule contraction syndrome occurs after fibrous metaplasia of lens proteins that leads to capsular bag contraction. Excessive front capsular wrinkling is seen in capsule contraction syndrome and there is an imbalance between powers supplying capsular integrity. This situation leads to zonular weakness. Capsule contraction syndrome is associated with pseudoexfoliation, older age, uveitis, pars planitis and myotonic muscular dystrophy. In order to decrease the risk of capsule contraction syndrome, front capsulerhexis area should be open as 5.5-6 mm diameter and a curysoft intraocular lens should be used. In order to prevent lens epithelial proliferation and metaplasia, lens epithelial cells at inferior surface of front capsule should be aspirated carefully. If postoperative capsular contraction detected, front capsulotomy should be performed by Nd-YAG laser at postoperative 2 to 3 weeks. In patients that Nd-YAG laser is unsuccessful, capsular tension should be decreased by surgical microincisions. In present study, we evaluated etiology, prevention and management of capsule contraction syndrome in the light of actual literature knowledge.

  11. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

    OpenAIRE

    Taylor-Phillips, Sian; Freeman, Karoline; Geppert, Julia; Agbebiyi, Adeola; Olalekan A Uthman; Madan, Jason; Clarke, Angus; Quenby, Siobhan; Clarke, Aileen

    2016-01-01

    Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. Design Systematic review and meta-analysis of published studies. Data sources PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015. Eligibility criteria for selecting studies English language journal articles describing ca...

  12. Paramecium BBS genes are key to presence of channels in Cilia

    Directory of Open Access Journals (Sweden)

    Valentine Megan

    2012-09-01

    Full Text Available Abstract Background Changes in genes coding for ciliary proteins contribute to complex human syndromes called ciliopathies, such as Bardet-Biedl Syndrome (BBS. We used the model organism Paramecium to focus on ciliary ion channels that affect the beat form and sensory function of motile cilia and evaluate the effects of perturbing BBS proteins on these channels. Methods We used immunoprecipitations and mass spectrometry to explore whether Paramecium proteins interact as in mammalian cells. We used RNA interference (RNAi and swimming behavior assays to examine the effects of BBS depletion on ciliary ion channels that control ciliary beating. Combining RNA interference and epitope tagging, we examined the effects of BBS depletion of BBS 7, 8 and 9 on the location of three channels and a chemoreceptor in cilia. Results We found 10 orthologs of 8 BBS genes in P. tetraurelia. BBS1, 2, 4, 5, 7, 8 and 9 co-immunoprecipitate. While RNAi reduction of BBS 7 and 9 gene products caused loss and shortening of cilia, RNAi for all BBS genes except BBS2 affected patterns of ciliary motility that are governed by ciliary ion channels. Swimming behavior assays pointed to loss of ciliary K+ channel function. Combining RNAi and epitope tagged ciliary proteins we demonstrated that a calcium activated K+ channel was no longer located in the cilia upon depletion of BBS 7, 8 or 9, consistent with the cells’ swimming behavior. The TRPP channel PKD2 was also lost from the cilia. In contrast, the ciliary voltage gated calcium channel was unaffected by BBS depletion, consistent with behavioral assays. The ciliary location of a chemoreceptor for folate was similarly unperturbed by the depletion of BBS 7, 8 or 9. Conclusions The co-immunoprecipitation of BBS 1,2,4,5,7,8, and 9 suggests a complex of BBS proteins. RNAi for BBS 7, 8 or 9 gene products causes the selective loss of K+ and PKD2 channels from the cilia while the critical voltage gated calcium channel and a

  13. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  14. Trisomy 18 (Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Poureisa

    2009-01-01

    Full Text Available Description and Definition "n"n Synonym: Edward syndrome Characterized by malformations of multiple organ systems, trisomy 18 has an incidence of 3 in 10000 live births. Abnormalities detectable by ultrasound Common findings Agenesis of the corpus callosum Choroid plexus cysts Posterior fossa abnormalities Micrognathia Low-set ears Microphthalmous Hypertelorism Short radial ray Clenched hand with overlapping index finger Clubbed foot Rocker-bottom foot Renal anomalies hydronephrosis Omphalocele Diaphragmatic hernia Cryptorchidism Heart defects Single umbilical artery Intrauterine growth restriction Polyhydramnios Nuchal lucency Occasional findings Meningomyelocele Ventriculomegaly Cleft lip and plate Major differential diagnoses Freeman-Sheldon syndrome (clenched hands and intrauterine growth restriction Pena Shokeir syndrome (pseudo-trisomy 18 Smith-Lemli-Opitz syndrome (clenched hands and intrauterine grown restriction Triploidy (intrauterine growth restriction Trisomy 9 Other multiple malformation syndromes associated with intrauterine growth retardation, limb anomalies and/ or heart defects. Ultrasound diagnosis Prenatal; ultrasound diagnosis has been established in the first trimester, based on the finding of a nuchal lucency. Detectable features on the early second trimester include abnormal forearms, clenched hands, clubbed feet, omphalocele and a major heart defect. The features of trisomy 18 are detectable in 80% of affected fetuses in the second trimester. Sonography is often used to evaluate fetuses for the prsence of trisomy 18 when choroid plexus cysts are present, or when the triple screen results in a low level of maternal serum alpha- fetoprotein, estriol and human chorionic  gonadotropin combination. Although trisomy 18 occurs in 1 in 100 fetuses with choroid plexus cysts, if it is an isolated finding, the risk for trisomy 18 falls below 1 in 400. Documenting an open hand is very helpful as most fetuses with trisomy 18 are

  15. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  16. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  17. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract 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

  18. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  19. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  20. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  1. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  2. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  3. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

    International Nuclear Information System (INIS)

    The 12S rRNA gene was shown to be a hot spot for aminoglycoside-induced and non-syndromic hearing loss since several deafness-associated mtDNA mutations were identified in this gene. Among them, we distinguished the A1555G, the C1494T and the T1095C mutations and C-insertion or deletion at position 961. One hundred Tunisian patients with non-syndromic hearing loss and 100 hearing individuals were analysed in this study. A PCR-RFLP analysis with HaeIII restriction enzyme showed the presence of the A1555G mutation in the 12S rRNA gene in only one out of the 100 patients. In addition, PCR-RFLP and radioactive PCR revealed the presence of a new HaeIII polymorphic restriction site in the same gene of 12S rRNA site in 4 patients with non-syndromic hearing loss. UVIDOC-008-XD analyses showed the presence of this new polymorphic restriction site with a variable heteroplasmic rates at position +1517 of the human mitochondrial genome. On the other hand, direct sequencing of the entire mitochondrial 12S rRNA gene in the 100 patients and in 100 hearing individuals revealed the presence of the A750G and A1438G polymorphisms and the absence of the C1494T, T1095C and 961insC mutations in all the tested individuals. Sequencing of the whole mitochondrial genome in the 4 patients showing the new HaeIII polymorphic restriction site revealed only the presence of the A8860G transition in the MT-ATP6 gene and the A4769G polymorphism in the ND2 gene

  4. Ultrasound-Derived Abdominal Muscle Thickness Better Detects Metabolic Syndrome Risk in Obese Patients than Skeletal Muscle Index Measured by Dual-Energy X-Ray Absorptiometry

    OpenAIRE

    Ayumi Ido; Yuki Nakayama; Kojiro Ishii; Motoyuki Iemitsu; Koji Sato; Masahiro Fujimoto; Toshiyuki Kurihara; Takafumi Hamaoka; Noriko Satoh-Asahara; Kiyoshi Sanada

    2015-01-01

    Sarcopenia has never been diagnosed based on site-specific muscle loss, and little is known about the relationship between site-specific muscle loss and metabolic syndrome (MetS) risk factors. To this end, this cross-sectional study aimed to investigate the relationship between site-specific muscle size and MetS risk factors. Subjects were 38 obese men and women aged 40-82 years. Total body fat and lean body mass were assessed by whole-body dual-energy X-ray absorptiometry (DXA) scan. Muscle ...

  5. Parameters detected by geriatric and quality of life assessment in 195 older patients with myelodysplastic syndromes and acute myeloid leukemia are highly predictive for outcome

    Science.gov (United States)

    Deschler, Barbara; Ihorst, Gabriele; Platzbecker, Uwe; Germing, Ulrich; März, Eva; de Figuerido, Marcelo; Fritzsche, Kurt; Haas, Peter; Salih, Helmut R.; Giagounidis, Aristoteles; Selleslag, Dominik; Labar, Boris; de Witte, Theo; Wijermans, Pierre; Lübbert, Michael

    2013-01-01

    Myelodysplastic syndromes and acute myeloid leukemia exemplify the complexity of treatment allocation in older patients as options range from best supportive care, non-intensive treatment (e.g. hypomethylating agents) to intensive chemotherapy/hematopoietic cell transplantation. Novel metrics for non-disease variables are urgently needed to help define the best treatment for each older patient. We investigated the feasibility and prognostic value of geriatric/quality of life assessments aside from established disease-specific variables in 195 patients aged 60 years or over with myelodysplastic syndromes/acute myeloid leukemia. These patients were grouped according to treatment intensity and assessed. Assessment consisted of eight instruments evaluating activities of daily living, depression, mental functioning, mobility, comorbidities, Karnofsky Index and quality of life. Patients with a median age of 71 years (range 60-87 years) with myelodysplastic syndromes (n=63) or acute myeloid leukemia (n=132) were treated either with best supportive care (n=47), hypomethylating agents (n=73) or intensive chemotherapy/hematopoietic cell transplantation (n=75). After selection of variables, pathological activities of daily living and quality of life/fatigue remained highly predictive for overall survival in the entire patient group beyond disease-related risk factors adverse cytogenetics and blast count of 20% or over. In 107 patients treated non-intensively activities of daily living of less than 100 (hazard ratio, HR 2.94), Karnofsky Index below 80 (HR 2.34) and quality of life/’fatigue’ of 50 or over (HR 1.77) were significant prognosticators. Summation of adverse features revealed a high risk of death (HR 9.36). In-depth evaluation of older patients prior to individual treatment allocation is feasible and provides additional information to standard assessment. Patients aged 60 years or over with newly diagnosed myelodysplastic syndromes/acute myeloid leukemia and

  6. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  7. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  8. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  9. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  10. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  11. Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes

    Directory of Open Access Journals (Sweden)

    Macario Alberto JL

    2010-03-01

    Full Text Available Abstract Background Chaperonin proteins are well known for the critical role they play in protein folding and in disease. However, the recent identification of three diverged chaperonin paralogs associated with the human Bardet-Biedl and McKusick-Kaufman Syndromes (BBS and MKKS, respectively indicates that the eukaryotic chaperonin-gene family is larger and more differentiated than previously thought. The availability of complete genome sequences makes possible a definitive characterization of the complete set of chaperonin sequences in human and other species. Results We identified fifty-four chaperonin-like sequences in the human genome and similar numbers in the genomes of the model organisms mouse and rat. In mammal genomes we identified, besides the well-known CCT chaperonin genes and the three genes associated with the MKKS and BBS pathological conditions, a newly-defined class of chaperonin genes named CCT8L, represented in human by the two sequences CCT8L1 and CCT8L2. Comparative analyses from several vertebrate genomes established the monophyletic origin of chaperonin-like MKKS and BBS genes from the CCT8 lineage. The CCT8L gene originated from a later duplication also in the CCT8 lineage at the onset of mammal evolution and duplicated in primate genomes. The functionality of CCT8L genes in different species was confirmed by evolutionary analyses and in human by expression data. Detailed sequence analysis and structural predictions of MKKS, BBS and CCT8L proteins strongly suggested that they conserve a typical chaperonin-like core structure but that they are unlikely to form a CCT-like oligomeric complex. The characterization of many newly-discovered chaperonin pseudogenes uncovered the intense duplication activity of eukaryotic chaperonin genes. Conclusions In vertebrates, chaperonin genes, driven by intense duplication processes, have diversified into multiple classes and functionalities that extend beyond their well-known protein

  12. Munchausen Syndrome by Proxy: Evaluation and Treatment.

    Science.gov (United States)

    Parnell, Teresa F.; Day, Deborah O.

    Munchausen Syndrome by Proxy (MSBP) is characterized by a significant caretaker, usually a mother, deliberately inducing and/or falsely reporting illness in a child. The potentially fatal outcome of undetected MSBP makes the understanding of this syndrome gravely important. Early detection and effective intervention can be accomplished through the…

  13. Olfactory dysfunction in Down's Syndrome.

    Science.gov (United States)

    Murphy, C; Jinich, S

    1996-01-01

    Down's Syndrome subjects over 40 years old show neuropathology similar to that of Alzheimer's disease. The olfactory system is particularly vulnerable in Alzheimer's disease, both anatomically and functionally. Several measures of sensory and cognitive functioning were studied in the older Down's Syndrome patient, with the hypothesis of significant olfactory dysfunction. Participants were 23 Down's subjects, and 23 controls. The Dementia Rating Scale showed mean scores of 103 for Down's subjects and 141 for controls. Down's subjects showed significant deficits in odor detection threshold, odor identification, and odor recognition memory. Normal performance in a taste threshold task, similar to the olfactory threshold task in subject demands, suggested that the Down's syndrome subjects' poor performance was not due to task demands. Deficits in olfaction may provide a sensitive and early indicator of the deterioration and progression of the brain in older subjects with Down's Syndrome.

  14. Depression following acute coronary syndrome

    DEFF Research Database (Denmark)

    Joergensen, Terese Sara Hoej; Maartensson, Solvej; Ibfelt, Else Helene;

    2016-01-01

    PURPOSE: Depression is common following acute coronary syndrome, and thus, it is important to provide knowledge to improve prevention and detection of depression in this patient group. The objectives of this study were to examine: (1) whether indicators of stressors and coping resources were risk...... factors for developing depression early and later after an acute coronary syndrome and (2) whether prior depression modified these associations. METHODS: The study was a register-based cohort study, which includes 87,118 patients with a first time diagnosis of acute coronary syndrome during the period...... 2001-2009 in Denmark. Cox regression models were used to analyse hazard ratios (HRs) for depression. RESULTS: 1.5 and 9.5 % develop early (≤30 days) and later (31 days-2 years) depression after the acute coronary syndrome. Among all patients with depression, 69.2 % had first onset depression, while 30...

  15. Turner综合征患儿合并脏器异常的检测及意义%Visceral abnormality detection and its significance in Turner syndrome girls

    Institute of Scientific and Technical Information of China (English)

    李程; 程茜

    2012-01-01

    [Objective] To investigate the cardiovascular,renal and thyroid abnormality for Turner syndrome,so as to provide suggestion for monitoring the patients with Turner syndrome after diagnosis. [Methods] 25 patients were recrui-ted from the outpatient at Children's hospital of Chongqing medical university. Cardiovascular system(24 cases) ,kidneys(25 cases) and thyroid(24 cases) were scanned by color doppler ultrasound. [Results] Of 24 individuals. 1 (4. 17%,1/24) girl showed aortic coarctation; A total of 3 (12%,3/25) patients had renal abnormalities in 25 cases with renal scan; Enlargement of thyroid appeared in 7 girls (29. 17%,7/24). [Conclusions] The abnormality of cardiovascular system,kidney and thyroid is common in Turner syndrome girls. The evaluation of cardiovascular system,kidneys and thyroid screening would be mandatory supervision post-diagnosis.%[目的]探讨Turner综合征患儿心血管、肾脏、甲状腺异常情况,为Turner综合征患儿诊断后监测提供依据. [方法]重庆医科大学附属儿童医院门诊25名诊断Turner综合征患儿,彩色多普勒超声扫描其心血管(24例)、肾脏(25例)、甲状腺(24例). [结果]超声扫描发现,主动脉弓缩窄1例,心血管异常率为4.17%(1/24);肾脏解剖结构异常3例,异常率12%(3/25);7例甲状腺肿大,异常率为29.17%(7/24). [结论]Turner综合征患儿心脏,肾脏,甲状腺异常较常见.心血管、肾脏、甲状腺的检查应该作为Turner综合征患儿监测常规.

  16. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

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

  17. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  18. Unusual Case of Metastatic Gastrointestinal Adenocarcinoma to the Cervical Spine without a Detectable Primary Source in a Patient with Acquired Immunodeficiency Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Paul E. Kaloostian

    2012-01-01

    Full Text Available The authors report a case of metastatic gastrointestinal adenocarcinoma to the cervical spine in a patient with acquired immunodeficiency syndrome (AIDS being treated with antiretroviral therapy. The source of this tumor could not be identified despite a thorough evaluation. A 49-year-old male being treated for AIDS presents with worsening neck pain and left distal arm weakness. MRI demonstrated an erosive mass within the cervical four vertebral body extending through the pedicle on the left side. Patient underwent needle biopsy followed by combined anterior and posterior fusion procedures. Pathology demonstrated metastatic gastrointestinal adenocarcinoma without known primary origin. He is currently undergoing palliative radiotherapy. This is an unusual case of metastatic gastrointestinal adenocarcinoma to the cervical spine. This should be included on the differential diagnosis of spinal lesions in this patient population and may represent a unique tumor in patients with HIV/AIDS who are on immunosuppressive therapy.

  19. 代谢综合征与阻塞性睡眠呼吸暂停低通气综合征独立相关%An independent association detected between metabolic syndrome and obstructive sleep apnea-hypopnea syndrome

    Institute of Scientific and Technical Information of China (English)

    臧淑妃; 潘志杰; 李成江

    2008-01-01

    Objective To investigate possible independent association between metabolic syndrome (MS) and obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods According to polysomnography (PSG) examination, 82 obese patients were divided into OSAHS group (n = 55) and non OSAHS group (n = 27) and 30 subjects with normal weight were recruited as the control group. PSG parameters such as AHI (apnea hyponea index), oxygen saturation (Spo2,) in obese patients were measured. MS-associated parameters, such as fasting blood glucose (FBG), fasting insulin (FINS), plasma lipid profile, insulin homeostasis model assessment of insulin resistance (HOMA-IR) and blood pressure, height, body weight, waist circumference, were measured in all cases. The prevalence of MS and the parameters were compared among different groups. The correlations between them were analyzed. Results The prevalence of MS in obese patients with OSAHS was significantly higher than that in obese patients without OSAHS (69.09% vs 37.04%, P <0.01). Systolic blood pressure and diastolic blood pressure (DBP), FBG and HOMA-IR were higher in subjects with OSAHS than those without OSAHS (P <0.05 or P <0.01). Multiple stepwise regression showed that DBP was negatively correlated with Spo2, FINS and HOMA-IR were positively correlated with AHI. Conclusion OSAHS is found to be independently associated with MS, which may be a risk factor of cardiovascular disease and other systemic diseases.%目的 探讨代谢综合征(Ms)与阻塞性睡眠呼吸暂停低通气综合征(OSAHS)可能存在的关系.方法 将82例经多导睡眠图(PSG)监测的肥胖者分为肥胖OSAHS组(55例)和肥胖非OSAHS组(27例),并选取30名正常体重者为正常对照组.测肥胖者的多导睡眠参数呼吸暂停低通气指数(AHI)、手指脉搏血氧饱和度(Spo2);所有受试者均测身高、体重、血压、腰围以及外周循环中代谢参数空腹血糖(FBG)、空腹胰岛素(FINS)、血清尿酸和血脂;以稳态模式评

  20. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  1. Trisomy 13 (Patau Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Poureisa

    2009-01-01

    Full Text Available "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system. "nAbnormalities Detectable by Ultrasound "nHoloprosencephaly "nVentriculomegaly "nEnlarged cisterna magna "nMicrocephaly "nAgenesis of the corpus callosum "nCleft lip and palate "nMidface hypoplasia "nCyclopia "nMicrophthalmia "nHypotelorism "nNuchal thickening "nNeural tube defect "nOmphalocele "nEchogenic, enlarged kidneys "nEchoic bowel "nEchogenic chordae tendinaea and single umbilical artery "nCardiac defects "nRadial aplasia "nPolydactyly "nFlexion deformity of the fingers "nMajor Differential Diagnoses "nMeckel-Gruber syndrome (polydactyly, neural tube defects and enlarged echogenic kidneys "nOther diagnostic possibilities vary, depending on the multiple abnormalities present in each affected fetus. "nUltrasound Diagnosis "nPrenatal sonographic detection has been established at as early as 12 weeks' gestation, based on the presence of holoprosencephaly. "nThe sonographic abnormalities (described earlier are easily detectable, owing to the severity of the defects and the multitude of organ systems involved. "nThe sensitivity of sonographic detection of trisomy 13 has been reported to be between 90% and 100% when a complete structural survey (including the heart is accomplished. "nIt is possible, although unusual, for a fetus with trisomy 13 syndome to have a completely normal structural survey in the second trimester. "nHeredity "nThis is an autosomal trisomic syndrome. "nNatural History and Outcome "nMost neonates with trisomy 13 die within hours or days of delivery. Eighty percent of affected babies die within the first month of life. "nOccasionally, survivors are reported; however, these individuals have profound mental retardation, seizures and failure to thrive. "nThose with trisomy 13 mosaicism may have a less severe clinical

  2. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

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

  3. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  4. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  5. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

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

  6. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    -to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato......Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right...

  7. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

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

  8. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  9. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  10. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  11. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  12. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  13. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  14. Morbihan syndrome.

    Science.gov (United States)

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

    2013-04-01

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

  15. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  16. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  17. Analysis of the Korean Emergency Department Syndromic Surveillance System: Mass Type Acute Diarrheal Syndrome

    OpenAIRE

    Ahn, Shin; Lee, Jae Ho; KIM, WON; Lim, Kyung Soo

    2010-01-01

    Objectives This study was designed to compare the data from the emergency department syndromic surveillance system of Korea in detection and reporting of acute diarrheal syndrome (mass type) with the data from the Korea Food and Drug Administration. And to offer fundamental materials for making improvements in current surveillance system was our purpose. Methods A study was conducted by reviewing the number of cases reported as acute diarrheal syndrome (mass type) from the Korean Center for D...

  18. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. 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 few manifestations of Marfan syndrome. Althou

  19. Marfan syndrome masked by Down syndrome?

    OpenAIRE

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

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. 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 few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  20. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  1. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

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

  2. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  3. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  4. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  5. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  6. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  7. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  8. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  9. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low ...

  10. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  11. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  12. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  13. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene

    DEFF Research Database (Denmark)

    Ottesen, A M; Garn, I D; Aksglaede, L;

    2007-01-01

    of the copy number assessment of the androgen receptor (AR) gene, located to Xq11.2-q12. We analysed samples from 50 individuals, including a healthy male and female controls and patients with Klinefelter syndrome (47,XXY; 48,XXXY) (n = 28), mosaicisms (46,XX/47,XXY/48XXYY; 45,X/46,XY) (n = 3), other sex...... chromosome abnormalities (46,XX males; 47,XYY)(n = 4) and normal karyotypes (46,XY) (n = 13). The reference range for the AR-copy number was established as 0.8-1.2 for one copy and 1.7-2.3 for two copies. The qPCR results were within the reference range in 17/18 samples (94%) or 30/31 (97%) samples with one...... or two copies of the AR gene, respectively. None of the Klinefelter patients were misdiagnosed as having a karyotype with only one X-chromosome, and in none of the 46,XY males were two copies demonstrated. We systematically compared qPCR results with those obtained with another PCR-based method, the XIST...

  14. “Prepandemic” Immunization for Novel Influenza Viruses, “Swine Flu” Vaccine, Guillain-Barré Syndrome, and the Detection of Rare Severe Adverse Events

    Science.gov (United States)

    Evans, David; Cauchemez, Simon; Hayden, Frederick G

    2010-01-01

    The availability of immunogenic, licensed H5N1 vaccines and the anticipated development of vaccines against “swine” influenza A(H1N1) have stimulated debate about the possible use of these vaccines for protection of those exposed to potential pandemic influenza viruses and for immunization or “priming” of populations in the so-called “prepandemic” (interpandemic) era. However, the safety of such vaccines is a critical issue in policy development for wide-scale application of vaccines in the interpandemic period. For example, wide-scale interpandemic use of H5N1 vaccines could lead to millions of persons receiving vaccines of uncertain efficacy potentially associated with rare severe adverse events and against a virus that may not cause a pandemic. Here, we first review aspects of the 1976 National Influenza Immunization Programme against “swine flu” and its well-documented association with Guillain-Barré syndrome as a case study illustration of a suspected vaccine-associated severe adverse event in a mass interpandemic immunization setting. This case study is especially timely, given the recent spread of a novel influenza A(H1N1) virus in humans in Mexico and beyond. Following this, we examine available safety data from clinical trials of H5N1 vaccines and briefly discuss how vaccine safety could be monitored in a postmarketing surveillance setting. PMID:19563262

  15. Prevalence, Detection, and Management of the Metabolic Syndrome in Patients with Acute Myocardial Infarction: Role of an Obesity-Centric Definition

    Directory of Open Access Journals (Sweden)

    Sandhir B. Prasad

    2010-01-01

    Full Text Available Background. We sought to determine and compare the prevalence of the Metabolic Syndrome (MS in patients with acute myocardial infarction (AMI utilizing the new International Diabetes Federation (IDF definition with the older National Cholesterol Education Program (NCEP definition. We also examined the clinical utility of MS in this context. Methods. A total of 107 consecutive patients with AMI were prospectively evaluated for MS. Fasting lipids obtained at admission and fasting glucose at discharge were used. A postdischarge folder audit verified rates of discharge coding and implementation of specific management strategies for MS. Results. Baseline patient characteristics included: mean age 59±13 years; males 80%; diabetes 19%; mean BMI 29.7±8.4 kg/m2. MS prevalence was 54% by the IDF definition and 49% by the NCEP definition, with good agreement between definitions: κ=0.664, P<.001. Factors predictive of MS after multivariate analysis included: hypertension, fasting glucose, waist circumference, and serum HDL (all P<.05. Despite the high prevalence, MS was recognized at discharge in only 1 patient, and referral for exercise and/or weight-loss programs was undertaken in 5 patients. Conclusion. There is a high prevalence of MS utilizing contemporary definitions in patients with AMI: 54% by the IDF definition and 49% by NCEP criteria. Despite the high prevalence, MS was under-recognized and under-treated in this population.

  16. 甲基化特异性PCR检测Prader-Willi综合征%Detection of Prader-Willi syndrome by methylation-specific PCR

    Institute of Scientific and Technical Information of China (English)

    宋明浩; 李麓芸; 傅俊江; 李秀蓉; 卢光琇

    2000-01-01

    目的:探讨一种高效、快速检测Prader-Willi综合征(Prader-Willi syndrome,PWS)的方法.方法:采用甲基化特异性聚合酶链反应(methylation-specific PCR,MSPCR),其作用原理基于DNA经亚硫酸氢钠处理后,来自父方非甲基化序列的胞嘧啶转变为尿嘧啶,而来自母方甲基化序列则保持不变,随后用具有高度特异性的引物进行扩增.结果:PWS患者的DNA经亚硫酸氢钠处理后,扩增仅能得到来自母方甲基化序列174 bp的产物,与用PW71B印迹杂交甲基化分析结果一致,与临床诊断相符,确诊为PWS.结论:MSPCR可检测由目前已知3种机理导致的PWS,是一种有效的首选筛查方法.

  17. A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

    Science.gov (United States)

    Todorov, Tihomir; Todorova, Albena; Georgieva, Bilyana; Mitev, Vanyo

    2010-06-01

    We report on a unified rapid betaine-based-PCR protocol for amplification of the (CAG)n region in Huntington disease (HD) and the (CGG)n region in Fragile X syndrome (FXS), followed by an electrophoretic separation on automated sequencer for precise determination of the triplet numbers. The high betaine concentration (2.5 M betaine) permits precise amplification of the CAG and CGG repeats. Ten HD affected patients and 10 healthy individuals from HD families were re-evaluated. For FXS the CGG region in normal individuals and premutations of about 100 repeats were precisely amplified by this protocol. Ten unrelated FXS premutation carriers and 24 mentally retarded non-FXS affected boys were re-examined by this method. The results totally coincided with the previous ones. This protocol is a good choice as a fast screening test. Within 24 h we can have preliminary information on the patient's genetic status. Normal individuals, CGG premutation carriers up to 100 repeats, as well as HD patients carrying an expansion up to 50 CAG repeats can be easily clarified. This accounts for a relatively large proportion (about 90%) of the suspected HD and FXS patients, referred to our laboratory for genetic analysis. The calculation of the repeat's number is more accurate for the correct interpretation of the results, screening tests and genetic counselling.

  18. Prevalence of first-pass myocardial perfusion defects detected by contrast-enhanced dual-source CT in patients with non-ST segment elevation acute coronary syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Schepis, Tiziano; Achenbach, Stephan; Marwan, Mohamed; Muschiol, Gerd; Ropers, Dieter; Daniel, Werner G.; Pflederer, Tobias [University of Erlangen, Department of Internal Medicine 2 (Cardiology), Erlangen (Germany)

    2010-07-15

    To investigate the prevalence and diagnostic value of first-pass myocardial perfusion defects (PD) visualised by contrast-enhanced multidetector computed tomography (MDCT) in patients admitted for a first acute coronary syndrome (ACS). Thirty-eight patients with non-ST segment elevation myocardial infarction (NSTEMI) or unstable angina (UA) and scheduled for percutaneous coronary intervention underwent dual-source CT immediately before catheterisation. CT images were analysed for the presence of any PD by using a 17-segment model. Results were compared with peak cardiac troponin-I (cTnI) and angiography findings. PD were seen in 21 of the 24 patients with NSTEMI (median peak cTnI level 7.07 ng/mL; range 0.72-37.07 ng/mL) and in 2 of 14 patients with UA. PD corresponded with the territory of the infarct-related artery in 20 out of 22 patients. In a patient-based analysis, sensitivity, specificity, negative and positive predictive values of any PD for predicting NSTEMI were 88%, 86%, 80% and 91%. Per culprit artery, the respective values were 86%, 75%, 80% and 83%. In patients with non-ST segment elevation ACS, first-pass myocardial PD in contrast-enhanced MDCT correlate closely with the presence of myocardial necrosis, as determined by increases in cTnI levels. (orig.)

  19. MALT LYMPHOMA IN LABIAL SALIVARY GLAND BIOPSY FROM SJÖGREN’S SYNDROME (SS): IMPORTANCE OF FOLLOW-UP IN EARLY DETECTION

    Science.gov (United States)

    Keszler, A; Adler, LI; Gandolfo, MS; Masquijo Bisio, PA; Smith, AC; Vollenweider, CF; Heidenreich, AM; de Stefano, G; Kambo, MV; Cox, DP; Narbaitz, M; Lanfranchi, HE

    2012-01-01

    Mucosa-associated lymphoid tissue (MALT) lymphomas are known to occur in Sjögren syndrome (SS) patients, but reported cases in labial salivary glands (LSG) are rare. We report a case of 60-year-old female patient with SS who developed MALT lymphoma in the labial salivary glands during a 2-year time interval when she was participating in the Sjögren’s International Clinical Collaborative Alliance (SICCA). SICCA is an ongoing longitudinal multisite observational study funded by the National Institutes of Health (NIH) of the United States. At follow-up exam, LSG biopsy showed atypical diffuse infiltration by mononuclear cells of variable size and atypical nuclei affecting the whole specimen with destruction of glandular architecture, leading to a diagnosis of B-cell MALT lymphoma. Computed tomography and bone marrow biopsy failed to show additional evidence of disease. Clinical, serological, ocular, histologic and immunohistochemical findings are presented. A “watch and wait” policy was adopted with regular examinations. PMID:23157989

  20. Study on the Relevance between Cirrhosis Syndrome Types of TCM and Biological Detection Indexes%肝硬化证型与生物学指标相关性研究

    Institute of Scientific and Technical Information of China (English)

    刘倩; 王晓素

    2012-01-01

    Objective:Chromic hepatitis B liver cirrhosis differentiation of symptoms and signs for classification of syndrome and relevance of biological indicators were studied, so as to provide some reference for liver cirrhosis differentiation of symptoms and signs for classification of syndrome. Methods: 170 liver cirrhosis patients chosen by adoption standards were investigated systematically. General states of health, case history, general state of health were collected for syndrome differentiation. Liver function ( ALT, AST, AKP, GGT, Alb, PA, STB, CB, BA ), HA, PT, lipid ( CHO, TG, HDL, LDL, Apo-Al ), and other indicators of modern medicine were detected simultaneously. Information database was established to understand the distribution characteristics of the disease. One-factor ANOVA was applied to investigate the relevance between the differentiation of symptoms and signs for classification of syndrome and objective index. Results : Endoretention of damp-heat and hepatic and renal yin deficiency are most common in syndrome types of TCM distribution. For endoretention of damp-heat and asdthenic splenonephro-yang, AST is higher. While for splenic asthenia phlegmatic hygrosis, AST is very low. The difference between endoretention of damp-heat and splenic asthenia phlegmatic hygrosis is significant (P hepatic and renal yin deficiency> blood stasis resistanre> endoretention of damp-heat> splenic asthenia phlegmatic hygrosis> asdthenic splenonephro-yang (P blood stasis resistance> splenic asthenia phlegmatic hygrosis> stagnation of liver-QI> hepatic and renal yin deficiency> endoretention of damp heat (P endoretention of damp heat> splenic asthenia phlegmatic hygrosis> blood stasis resistance> hepatic and renal yin deficiency> stagnation of liver-QI (P asdthenic splenonephro-yang >blood stasis resistance> splenic asthenia phlegmatic hygrosis> hepatic and renal yin deficiency> depression of liver-QI. Stagnation of liver-QI, hepatic and renal yin deficiency, splenic

  1. Diagnostic performance of rapid tests for detection of fecal calprotectin and lactoferrin and their ability to discriminate inflammatory from irritable bowel syndrome.

    NARCIS (Netherlands)

    Otten, C.M.; Kok, L.; Witteman, B.J.M.; Baumgarten, R.; Kampman, E.; Moons, K.G.M.; Wit, N.J. de

    2008-01-01

    BACKGROUND: Ruling out somatic bowel disease, such as inflammatory bowel disease (IBD), is an important goal in the management of abdominal complaints. Endoscopy is commonly used but is invasive and expensive. Mucosal inflammation in IBD can be detected through fecal biomarkers, though the present e

  2. Diagnostic performance of rapid tests for detection of fecal calprotectin and lactoferrin and their ability to discriminate inflammatory from irritable bowel syndrome

    NARCIS (Netherlands)

    Otten, M.T.; Kok, L.; Witteman, B.J.M.; Baumgarten, R.; Kampman, E.; Moons, K.G.M.; Wit, de N.J.

    2008-01-01

    Background: Ruling out somatic bowel disease, such as inflammatory bowel disease (IBD), is an important goal in the management of abdominal complaints. Endoscopy is commonly used but is invasive and expensive. Mucosal inflammation in IBD can be detected through fecal biomarkers, though the present e

  3. Development of a liquid chip for simultaneous detection on three kinds of viruses of fever and rash syndromes%液相芯片检测3种发热伴出疹病毒方法的建立

    Institute of Scientific and Technical Information of China (English)

    刘丽娟; 姜超; 杨永莉; 王莎莎; 于珊珊; 王旺

    2012-01-01

    目的 建立一种能同时检测发热伴出疹症候群中的肠道病毒71(EV71)、柯萨奇病毒A组16(CA16)和麻疹病毒(MV)的高通量液相芯片检测方法.方法 针对EV71、CA16和MV全基因组序列,分别设计特异性引物和探针,经多重PCR扩增并用生物素标记相应的基因片段,建立EV71、CA16和MV高通量核酸液相芯片检测方法.并对该方法灵敏度、特异度进行验证.结果 液相芯片检测方法对EV71、CA16和MV的检测结果与多重PCR的检测结果一致.该方法能同时完成对其中任何1种及3种病毒的检测,特异性好,灵敏度最低可达2.14 pg/μl.结论 该方法用于3种发热伴出疹症候群病毒的检测具有较高的灵敏度和特异性,可用于EV71、CA16和MV的实验室检测.%Objective To develop a rapid, high-throughput screening method of gene liquid chip to detect three viruses of fever and rash syndromes, including EV71, CA16 and Measles virus. Methods Highly validated specific primers and probes were used to amplify the target regions of each virus. Biotin labeled PCR products were hybridized to corresponding probes coupling on the unique fluorescent beads. The hybridized beads were processed through the Bio-plex, which identified the presence of PCR products. The sensitivity, specificity and detection power were also analyzed. Results The result of liquid chip on the detection of three kinds of viruses was consistent with the result of multiple PCR. The assay can detect each virus and all three kinds of viruses simultaneously, with high specificity and the lowest detection limitation was 2.14pg/μl. Conclusion The assay, which is high sensitivity and specificity, can be used to detect EV71, CA16 and MV in the laboratory.

  4. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    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…

  5. Nonlethal screening of bat-wing skin with the use of ultraviolet fluorescence to detect lesions indicative of white-nose syndrome

    Science.gov (United States)

    Turner, Gregory G.; Meteyer, Carol U.; Barton, Hazel; Gumbs, John F.; Reeder, DeeAnn M.; Overton, Barrie; Bandouchova, Hana; Bartonička, Tomáš; Martínková, Natália; Pikula, Jiri; Zukal, Jan; Blehert, David S.

    2014-01-01

    Definitive diagnosis of the bat disease white-nose syndrome (WNS) requires histologic analysis to identify the cutaneous erosions caused by the fungal pathogen Pseudogymnoascus [formerly Geomyces] destructans (Pd). Gross visual inspection does not distinguish bats with or without WNS, and no nonlethal, on-site, preliminary screening methods are available for WNS in bats. We demonstrate that long-wave ultraviolet (UV) light (wavelength 368–385 nm) elicits a distinct orange–yellow fluorescence in bat-wing membranes (skin) that corresponds directly with the fungal cupping erosions in histologic sections of skin that are the current gold standard for diagnosis of WNS. Between March 2009 and April 2012, wing membranes from 168 North American bat carcasses submitted to the U.S. Geological Survey National Wildlife Health Center were examined with the use of both UV light and histology. Comparison of these techniques showed that 98.8% of the bats with foci of orange–yellow wing fluorescence (n = 80) were WNS-positive based on histologic diagnosis; bat wings that did not fluoresce under UV light (n = 88) were all histologically negative for WNS lesions. Punch biopsy samples as small as 3 mm taken from areas of wing with UV fluorescence were effective for identifying lesions diagnostic for WNS by histopathology. In a nonlethal biopsy-based study of 62 bats sampled (4-mm diameter) in hibernacula of the Czech Republic during 2012, 95.5% of fluorescent (n = 22) and 100% of nonfluorescent (n = 40) wing samples were confirmed by histopathology to be WNS positive and negative, respectively. This evidence supports use of long-wave UV light as a nonlethal and field-applicable method to screen bats for lesions indicative of WNS. Further, UV fluorescence can be used to guide targeted, nonlethal biopsy sampling for follow-up molecular testing, fungal culture analysis, and histologic confirmation of WNS.

  6. Ultrasound-Derived Abdominal Muscle Thickness Better Detects Metabolic Syndrome Risk in Obese Patients than Skeletal Muscle Index Measured by Dual-Energy X-Ray Absorptiometry.

    Directory of Open Access Journals (Sweden)

    Ayumi Ido

    Full Text Available Sarcopenia has never been diagnosed based on site-specific muscle loss, and little is known about the relationship between site-specific muscle loss and metabolic syndrome (MetS risk factors. To this end, this cross-sectional study aimed to investigate the relationship between site-specific muscle size and MetS risk factors. Subjects were 38 obese men and women aged 40-82 years. Total body fat and lean body mass were assessed by whole-body dual-energy X-ray absorptiometry (DXA scan. Muscle thickness (MTH was measured using B-mode ultrasound scanning in six body regions. Subjects were classified into general obesity (GO and sarcopenic obesity (SO groups using the threshold values of one standard deviation below the sex-specific means of either MTH or skeletal muscle index (SMI measured by DXA. MetS risk score was acquired by standardizing and summing the following continuously distributed variables: visceral fat area, mean blood pressure, HbA1c, and serum triglyceride / high density lipoprotein cholesterol, to obtain the Z-score. Multiple regression analysis revealed that the MetS risk score was independently associated with abdominal MTH in all subjects, but not with MTH in other muscle regions, including the thigh. Although HbA1c and the number of MetS risk factors in the SO group were significantly higher than those in the GO group, there were no significant differences between GO and SO groups as defined by SMI. Ultrasound-derived abdominal MTH would allow a better assessment of sarcopenia in obese patients and can be used as an alternative to the conventionally-used SMI measured by DXA.

  7. Ultrasound-Derived Abdominal Muscle Thickness Better Detects Metabolic Syndrome Risk in Obese Patients than Skeletal Muscle Index Measured by Dual-Energy X-Ray Absorptiometry.

    Science.gov (United States)

    Ido, Ayumi; Nakayama, Yuki; Ishii, Kojiro; Iemitsu, Motoyuki; Sato, Koji; Fujimoto, Masahiro; Kurihara, Toshiyuki; Hamaoka, Takafumi; Satoh-Asahara, Noriko; Sanada, Kiyoshi

    2015-01-01

    Sarcopenia has never been diagnosed based on site-specific muscle loss, and little is known about the relationship between site-specific muscle loss and metabolic syndrome (MetS) risk factors. To this end, this cross-sectional study aimed to investigate the relationship between site-specific muscle size and MetS risk factors. Subjects were 38 obese men and women aged 40-82 years. Total body fat and lean body mass were assessed by whole-body dual-energy X-ray absorptiometry (DXA) scan. Muscle thickness (MTH) was measured using B-mode ultrasound scanning in six body regions. Subjects were classified into general obesity (GO) and sarcopenic obesity (SO) groups using the threshold values of one standard deviation below the sex-specific means of either MTH or skeletal muscle index (SMI) measured by DXA. MetS risk score was acquired by standardizing and summing the following continuously distributed variables: visceral fat area, mean blood pressure, HbA1c, and serum triglyceride / high density lipoprotein cholesterol, to obtain the Z-score. Multiple regression analysis revealed that the MetS risk score was independently associated with abdominal MTH in all subjects, but not with MTH in other muscle regions, including the thigh. Although HbA1c and the number of MetS risk factors in the SO group were significantly higher than those in the GO group, there were no significant differences between GO and SO groups as defined by SMI. Ultrasound-derived abdominal MTH would allow a better assessment of sarcopenia in obese patients and can be used as an alternative to the conventionally-used SMI measured by DXA. PMID:26700167

  8. Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Odano, Ikuo [Dept. of Radiology, Niigata Univ. School of Medicine, Niigata (Japan); Anezaki, Toshiharu [Dept. of Neurology, Brain Research Inst., Niigata Univ., Niigata (Japan); Ohkubo, Masaki [Dept. of Radiology, Niigata Univ. School of Medicine, Niigata (Japan); Yonekura, Yoshiharu [Nihon Medi-Physics Co. Ltd., Hyogo (Japan); Onishi, Yoshihiro [Biomedical Imaging Research Center, Fukui Medical School, Fukui (Japan); Inuzuka, Takashi [Dept. of Neurology, Brain Research Inst., Niigata Univ., Niigata (Japan); Takahashi, Makoto [Dept. of Radiology, Niigata Univ. School of Medicine, Niigata (Japan); Tsuji, Shoji [Dept. of Neurology, Brain Research Inst., Niigata Univ., Niigata (Japan)

    1996-05-01

    A receptor mapping technique using iodine-123 iomazenil and single-photon emission tomography (SPET) was employed to examine benzodiazepine receptor binding in a patient with Angelman syndrome (AS). AS is characterized by developmental delay, seizures, inappropriate laughter and ataxic movement. In this entity there is a cytogenic deletion of the proximal long arm of chromosome 15q11-q13, where the gene encoding the GABA{sub A} receptor {beta}3 subunit (GABRB3) is located. Since the benzodiazepine receptor is constructed as a receptor-ionophore complex that contains the GABA{sub A} receptor, it is a suitable marker for GABA-ergic synapsis. To determine whether benzodiazepine receptor density, which indirectly indicates changes in GABA{sub A} receptor density, is altered in the brain in patients with AS, we investigated a 27-year-old woman with AS using {sup 123}I-iomazenil and SPET. Receptor density was quantitatively assessed by measuring the binding potential using a simplified method. Regional cerebral blood flow was also measured with N-isopropyl-p-[{sup 123}]iodoamphetamine. We demonstrated that benzodiazepine receptor density is severely decreased in the cerebellum, and mildly decreased in the frontal and temporal cortices and basal ganglia, a result which is considered to indicate decreased GABA{sub A} receptor density in these regions. Although the deletion of GABRB3 was not observed in the present study, we indirectly demonstrated the disturbance of inhibitory neurotransmission mediated by the GABA{sub A} receptor in the investigated patient. {sup 123}I-iomazenil with SPET was useful to map benzodiazepine receptors, which indicate GABA{sub A} receptor distribution and their density. (orig.)

  9. Vitreomacular traction syndrome

    Institute of Scientific and Technical Information of China (English)

    Shao Lei; Wei Wenbin

    2014-01-01

    Objective This study aimed to review the available literature on vitreomacular traction (VMT) syndrome and propose the future study prospect in this field.Data sources The data used in this review were mainly obtained from articles listed in Medline and Pubmed (1970-2013).The search terms were "vitreomacular traction," "optical coherence tomography," "vitrectomy," and "ocriplasmin."Study selection Articles regarding the pathophysiology,diagnosis,and treatments of VMT were selected and reviewed.Results VMT syndrome is a persistent attachment of vitreous to the macula in eyes with an incomplete posterior vitreous detachment and considered to be an uncommon status which correlated with some other macular disorders.Optical coherence tomography (OCT) can support a new way to examine and classify VMT.Nonoperative and operative intervenes on this disease have been developed recently,especially the intravitreal medical therapy.Conclusions VMT syndrome may be associated with various disorders in the macular region,depending in part on the size and strength of the residual vitreomacular adhesion.Regular OCT monitoring is recommended to detect it.Patients with asymptomatic VMT should be observed for at least 2-3 months; nonoperative treatment with ocriplasmin should be considered when disorders persist; surgery is recommended if VMT-related disease is significant.

  10. Intra-breath arterial oxygen oscillations detected by a fast oxygen sensor in an animal model of acute respiratory distress syndrome

    OpenAIRE

    Formenti, Federico; Chen, R.; McPeak, Hanne; Murison, Pamela; Matejovic, M; Hahn, Clive; Farmery, Andrew

    2015-01-01

    Background There is considerable interest in oxygen partial pressure (PO2) monitoring in physiology, and in tracking PO2 changes dynamically when it varies rapidly. For example, arterial PO2 ([Math Processing Error]) can vary within the respiratory cycle in cyclical atelectasis (CA), where [Math Processing Error] is thought to increase and decrease during inspiration and expiration, respectively. A sensor that detects these [Math Processing Error] oscillations could become a useful diagnostic...

  11. Intra-breath arterial oxygen oscillations detected by a fast oxygen sensor in an animal model of acute respiratory distress syndrome

    OpenAIRE

    Formenti, F.; Chen, R.; McPeak, H; Murison, PJ; Matejovic, M; Hahn, CEW; Farmery, AD; Galley, HF

    2015-01-01

    BACKGROUND: There is considerable interest in oxygen partial pressure (Po2) monitoring in physiology, and in tracking Po2 changes dynamically when it varies rapidly. For example, arterial Po2 ([Formula: see text]) can vary within the respiratory cycle in cyclical atelectasis (CA), where [Formula: see text] is thought to increase and decrease during inspiration and expiration, respectively. A sensor that detects these [Formula: see text] oscillations could become a useful diagnostic tool of CA...

  12. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  13. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

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

  14. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  15. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  16. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  17. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  18. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  19. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  20. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    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...

  1. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  2. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  3. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  4. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  5. CSFV和PRRSV二联RT-PCR检测方法的建立%Establishment of Double RT - PCR for Detection of Classical Swine Fever and Porcine Reproductive and Respiratory Syndrome Virus

    Institute of Scientific and Technical Information of China (English)

    王开; 裴志花; 李菲

    2011-01-01

    参照GenBank中猪瘟病毒(CSFV)和猪繁殖与呼吸障碍综合征病毒(PRRSV)基因保守序列,设计2对特异}l物,通过对最佳反应条件的优化,建立了CSFV和PRRSV的二联RT-PCR检测方法,该方法可同时扩增得到2条与试验设计相符的443 bp(CSFV)和246 bp(PRRSV)特异性条带.应用该二联RT-PCR方法检测猪细小病毒(PPV)、猪伪狂犬病毒(PRV)、牛病毒性腹泻病毒(BVDV)结果均为阴性,证明该方法有良好的特异性.将已知阳性病毒PCR模板最高稀释倍数作为PCR的敏感度,结果表明该二联RT-PCR体系扩增的敏感度为10-3,可对CSFV和PRRSV单个或混合感染的临床样品进行快速鉴别诊断.%According to the gene sequences in GenBank of swine fever virus (CSFV) and porcine reproductive and respiratory syndrome virus(PRRSV), two pairs of specific primers were designed for amplifying the two specific fragments of CSFV and PRRSV. After optimization of annealing temperature and primers concentrations, a double RT- PCR was established for simultaneous detection of the two viruses, and two specific bands of CSFV 443 bp and PRRSV 246 bp were detected. Porcine parvovirus (PPV), porcine pseudorabies virus (PRV) and bovine viral diarrhea virus (BVDV) were detected by the double RT- PCR, and the results were all negative, showing that this method has good specificity. The maximum dilution of template of known viruses for positive PCR was defined as the sensitivity of PCR, and the results showed that the sensitivity of double RT- PCR was 10-3. Positive samples were detected through double PCR, and the results showed that the method could be used to effectively detect and differentiate CSFV and PRRSV single or co-infection infected in clinical samples.

  6. Reye syndrome - resources

    Science.gov (United States)

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  7. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  8. Iliotibial band syndrome - aftercare

    Science.gov (United States)

    IT band syndrome - aftercare; Iliotibial band friction syndrome - aftercare ... If you have iliotibial band syndrome you may notice: Mild pain on the outside of your knee when you begin to exercise, which goes ...

  9. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  10. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  11. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  12. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  13. Serum Krebs Von Den Lungen-6 as a Biomarker for Early Detection of Bronchiolitis Obliterans Syndrome in Children Undergoing Allogeneic Stem Cell Transplantation.

    Science.gov (United States)

    Gassas, Adam; Schechter, Tal; Krueger, Joerg; Craig-Barnes, Hayley; Sung, Lillian; Ali, Muhammad; Dell, Sharon; Egeler, R Maarten; Zaidman, Irina; Palaniyar, Nades

    2015-08-01

    Bronchiolitis obliterans syndrome (BOS) is a devastating complication after allogeneic stem cell transplantation (allo-SCT). Early identification of high-risk patients is pivotal for success. Lung proteins, KL-6, CCSP, SP-A, and SP-D, measured in the serum may identify high-risk patients for BOS earlier than pulmonary function tests (PFTs) can identify changes or clinical symptoms. Lung proteins were measured in patients' serum at baseline and at 1, 3, 6, 9, 12, 18, and 24 months after transplantation along with history, clinical examination, and PFTs. Serum levels of lung proteins were also measured in healthy control subjects. The primary endpoint was the development of BOS confirmed by pathological biopsy or National Institutes of Health criteria. Between September 2009 and September 2011, 39 patients were enrolled. Six children developed BOS at a median time of 200 days (range, 94 to 282). KL-6 levels were low in control subjects, at a median of .1 U/mL (range, .1 to 1.5). Pre-SCT and 1-month KL-6 levels were significantly higher in surviving patients who developed BOS (n = 6) versus those who did not (n = 18) (pre-SCT: mean, 32.6 U/mL [IQR, 9.7 to 89.3] versus 5.8 U/mL [IQR, 2.1 to 12.6], P = .03; at 1 month: mean, 52.5 U/mL [IQR, 20.2 to 121.3] versus 11.4 U/mL [IQR, 5.7 to 36.0], P = .04). Three- and 6-month KL-6 levels continued to be higher in BOS group but were not statistically significant. CCSP, SP-A, and SP-D were not predictive. KL-6 measured in the serum of children receiving allo-SCT may identify patients at high risk for the development of BOS. These patients will benefit from intensive surveillance protocol and early therapy before irreversible lung damage. PMID:25963919

  14. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  15. 猪繁殖与呼吸综合征检测技术研究进展%Research Progress on Detection Technology of Porcine Reproductive and Respiratory Syndrome

    Institute of Scientific and Technical Information of China (English)

    胡晗; 冉红志; 赵宝; 张旭辉; 朱永周

    2011-01-01

    Porcine reproductive and respiratory syndrome,characterized by reproductive failure and respiratory disease in pigs, has caused tremendous losses in the swine industry worldwide. Currently, its pathogenic mechanisms and self-replication pattern are not entirely clear, so the detection of PRRSV is particularly significant. With the research deeply on molecular biology of PRRSV genome, more and more efficient diagnosis technology appear constantly, which provide a powerful support on diagnosis of PRRS fast and accurately. This paper reviewed the laboratory molecular biological diagnosis techniques and focused on the comparison of advantages and disadvantages of different methods so as to provide a reference.%近年来猪繁殖与呼吸综合征对养猪业造成了巨大的损失,其致病机制和自身复制规律至今尚不完全明确,这就使得对该病的检测显得尤为重要.伴随着对PRRSV基因组分子生物学的深入研究,新的更简洁高效的诊断技术不断出现,对快速准确诊断PRRS提供了有力支持.论文对PRRS实验室诊断技术做一综述,重点比较各类方法的优缺点,以供参考.

  16. The Advance in Detection Technique of Porcine Reproductive and Respiratory Syndrome%猪繁殖与呼吸综合征检测技术研究进展

    Institute of Scientific and Technical Information of China (English)

    魏衍全; 田宏; 吴锦艳; 尚佑军; 刘湘涛

    2011-01-01

    猪繁殖与呼吸综合征是导致猪繁殖障碍疾病的一种重要猪病.其致病机制和自身复制规律至今尚不完全明确,因此无法从根本上清除该病的存在,这就使得对该病的检测显得尤为重要.现从直观的临床诊断、精确的实验室诊断及鉴别诊断等方面对猪繁殖与呼吸综合征检测技术进行了综述,其中对可以最终确诊的实验室检测技术进行了重点介绍,并对猪繁殖与呼吸综合征生物学检测技术进行了总结.%Porcine reproductive and respiratory syndrome, characterized by reproductive failure and respiratory disease in pigs, is a major disease in the swine industry worldwide. Currently, its pathogenic mechanisms and self-replication pattern are not entirely clear, so it hasn't been removed from the fundamental existence of the disease, then the detection of PRRSV is particularly significant. Various detection methods had been introduced,for example, the intuitional clinical observation, precise laboratory differential diagnosis and so on. Among them, the laboratory molecular biological diagnosis technique had been described in detail, and it is summarized by laboratory diagnosis and common biological diagnosis.

  17. Diamond Blackfan Syndrome

    Directory of Open Access Journals (Sweden)

    Rahul SINHA, Daljit SINGH, Kirandeep SODHI, Y K KIRAN, Biju JOHN

    2010-01-01

    Full Text Available We report a case of Diamond Blackfan syndrome in 6yr old girl who was detected to have severe anaemia on D4 of life. The baby was detected to have polydactyly right hand (preaxial and weak radial pulse on right side. On examination there was severe pallor without hepatosplenomegaly. The investigations revealed haemoglobin of 1.9 gm% with reticulocyte count of 0.3%. Other investigations were done to establish the cause of anaemia. The sickling test was negative, Peripheral blood smear revealed macrocytic anaemia, Hb electrophoresis revealed fetal haemoglobin of 2.7 %. Bone marrow examination revealed markedly reduced erythroid series, stress cytogenetics study done later was negative for any chromosomal breakage. Based on the clinical profile and investigation reports the diagnosis of Diamond Blackfan Syndrome was made. The child was put on corticosteroids which were gradually tapered. Subsequently any attempt at withdrawl of steroids resulted in fall in haemoglobin levels. Hence the child has been maintained on low dose steroids and has remained symptom free.

  18. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  19. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  20. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  1. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  2. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  3. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  4. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  5. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract 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

  6. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  7. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  8. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  9. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  10. The trisomy 18 syndrome

    Directory of Open Access Journals (Sweden)

    Cereda Anna

    2012-10-01

    Full Text Available Abstract 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

  11. Otologic Problems in Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmadreza Okhovat

    2011-06-01

    Full Text Available Background and Aim: Turner syndrome is the most common sex chromosome abnormality in females, affecting an estimated 3% of all conceiving females. Otologic disease is a common problem in Turner syndrome patients that is due to a combination of small dysfunction Eustachian tube, palatal dysfunction and cochlear malformation.Methods: This study assessed the otologic and audiologic characteristics of a group of Turner syndrome patients. We studied 40 Turner patients aged 10 to 20 years (mean age: 15.84 years, SD=2.67. Pure tone audiometry was carried out for all of them.Results: Forty percent of the patients reported a history of middle ear disease. Analysis of audiometric data in 40 patients tested reveals normal hearing in 47.5%, pure sensorineural hearing loss in 32.5%, pure conductive hearing loss in 17.5% and mixed hearing loss in 2.5% of patients.Conclusion: Careful follow up during early childhood of children with Turner syndrome is necessary to detect middle ear disease and prevent the probable sequel. However, long term periodic follow up is mandatory even after resolution of middle ear disease to detect sensorineural hearing loss

  12. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  13. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  14. 腹部恶性肿瘤患者血瘀证检验指标的临床研究%Clinical Study of Blood Stasis Syndrome Detection Index in Patients with Abdominal Malignant Tumor

    Institute of Scientific and Technical Information of China (English)

    高泽峰

    2015-01-01

    Objective:To analyze the distribution characteristics related markers of blood stasis syndrome detection index in patients with abdominal malignant tumor distribution characteristics,putting forward to the countermeasures. Methods:93 cases of patients with abdominal malignant tumor were selected to carry on the correlation index test. Re-sults:The incidence rate of blood stasis syndrome in abdominal malignant tumor group was higher than that in the healthy group. There was statistically significant difference(P<0. 05);PLT(blood platelet)level of patients with early abdominal malignant tumor was higher than that of healthy group,advanced subgroup was higher than that in the late early subgroups;PT level was higher than the subgroup healthy group;TT level of the early subgroup and in the middle and late period was higher than that of healthy group;PSV,HCT level of advanced subgroup was higher than that of the healthy group;PU level of early subgroup was lower than that of the healthy group and the advanced subgroup was lower than that of early subgroup. There was statistically significant difference(P<0. 05). Conclusion:It is the case that blood stasis syndrome proportion of patients with abdominal malignant tumor is higher than the normal,so preventive measures should be actively taken to prevent concurrent thrombotic events.%目的:分析腹部恶性肿瘤患者血瘀证检验指标水平分布特点,总结干预对策。方法:选取腹部恶性肿瘤患者93例,治疗前行相关指标检验。结果:腹部恶性肿瘤组血瘀证发生率高于健康组,差异具有统计学意义( P<0.05);腹部恶性肿瘤患者早期PLT高于健康组,中晚期高于早期,中晚期PT长于健康组,早期与中晚期TT长于健康组,中晚期PSV、HCT长于健康组与早期,早期PU低于健康组,中晚期低于早期,差异具有统计学意义(P<0.05)。结论:腹部恶性肿瘤患者合并血瘀证比重超出正常人,应

  15. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  16. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  17. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  18. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

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

  19. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  20. Posterior compartment syndrome associated with clopidogrel therapy following trivial trauma

    OpenAIRE

    Byrne, A‐M; Kearns, S. R.; Kelly, E P

    2006-01-01

    Haematomata caused by blunt trauma may potentially induce a compartment syndrome by raising intra‐compartmental pressure. We report a case of acute posterior compartment syndrome following minimal trauma to the leg of an elderly patient on the antiplatelet agent clopidogrel. This case highlights the high index of clinical suspicion required to detect compartment syndrome in those on long term antiplatelet therapy and prompt surgical decompression is recommended.

  1. Timeliness of Emergency Department Diagnoses for Syndromic Surveillance

    OpenAIRE

    Travers, Debbie; Barnett, Clifton; Ising, Amy; Waller, Anna

    2006-01-01

    Emergency Department (ED) data are key components of syndromic surveillance systems. While diagnosis data are widely available in electronic form from EDs and often used as a source of clinical data for syndromic surveillance, our previous survey of North Carolina EDs found that the data were not available in a timely manner for early detection. The purpose of this study was to measure the time of availability of participating EDs’ diagnosis data in a state-based syndromic surveillance system...

  2. Complications of nephrotic syndrome.

    Science.gov (United States)

    Park, Se Jin; Shin, Jae Il

    2011-08-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox), thromboembolism (e.g., venous thromboembolism and pulmonary embolism), hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension), cardiovascular problems (e.g., hyperlipidemia), acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception). The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS. PMID:22087198

  3. Complications of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Se Jin Park

    2011-08-01

    Full Text Available Nephrotic syndrome (NS is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox, thromboembolism (e.g., venous thromboembolism and pulmonary embolism, hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension, cardiovascular problems (e.g., hyperlipidemia, acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception. The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS.

  4. Bing and Neel Syndrome

    Directory of Open Access Journals (Sweden)

    S. Jennane

    2012-01-01

    Full Text Available Introduction. We report the case of a Bing and Neel syndrome revealed by an isolated left ptosis. Case Report. a 57-year-old man was followed up since October 2003 for a typical Waldenström’s macroglobulinemia. A first complete remission was obtained with chlorambucil. In August 2004, he relapsed. A second complete remission was obtained with RFC chemotherapy regimen (rituximab, fludarabine, and cyclophosphamide. In October 2009, the patient presented with an isolated left ptosis revealing a Bing and Neel syndrome. The diagnosis was suspected on MRI and confirmed by the detection in the CSF of a monoclonal IgM similar to the one found in the plasma. A quite good partial remission has been obtained after one course of RDHAP (rituximab, dexamethasone, cytarabine, and cisplatin and 3 courses of RDHOx (rituximab, dexamethasone, cytarabine, and oxaliplatin, in addition to ten intrahectal chemotherapy injections. The treatment was followed by intensification and autologous stem cell transplantation. At D58, the patient died due to a septic shock. Conclusion. BNS is a rare and potentially treatable complication of WM. It should be considered in patients with neurologic symptoms and a history of WM.

  5. Bing and neel syndrome.

    Science.gov (United States)

    Jennane, S; Doghmi, K; Mahtat, E M; Messaoudi, N; Varet, B; Mikdame, M

    2012-01-01

    Introduction. We report the case of a Bing and Neel syndrome revealed by an isolated left ptosis. Case Report. a 57-year-old man was followed up since October 2003 for a typical Waldenström's macroglobulinemia. A first complete remission was obtained with chlorambucil. In August 2004, he relapsed. A second complete remission was obtained with RFC chemotherapy regimen (rituximab, fludarabine, and cyclophosphamide). In October 2009, the patient presented with an isolated left ptosis revealing a Bing and Neel syndrome. The diagnosis was suspected on MRI and confirmed by the detection in the CSF of a monoclonal IgM similar to the one found in the plasma. A quite good partial remission has been obtained after one course of RDHAP (rituximab, dexamethasone, cytarabine, and cisplatin) and 3 courses of RDHOx (rituximab, dexamethasone, cytarabine, and oxaliplatin), in addition to ten intrahectal chemotherapy injections. The treatment was followed by intensification and autologous stem cell transplantation. At D58, the patient died due to a septic shock. Conclusion. BNS is a rare and potentially treatable complication of WM. It should be considered in patients with neurologic symptoms and a history of WM. PMID:22988532

  6. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

    NARCIS (Netherlands)

    Jehee, F.S.; Krepischi-Santos, A.C.; Rocha, K.M.; Cavalcanti, D.P.; Kim, C.A.; Bertola, D.R.; Alonso, L.G.; D'Angelo, C.S.; Mazzeu, J.F.; Froyen, G.; Lugtenberg, D.; Vianna-Morgante, A.M.; Rosenberg, C.; Passos-Bueno, M.R.

    2008-01-01

    We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric

  7. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  8. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  9. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  10. The battered child syndrome

    International Nuclear Information System (INIS)

    The recognition of a battered child represents a challenge for all groups of adults dealing with children. Radiology plays a special role in this setting. By detection typical injuries, imaging is able to confirm the suspicion of a battered child. Recognition of those injuries on films, taken for other reasons, gives the caretaker an important hint, thus maybe preventing a fatal outcome for the child. One of the most important injury types is represented by the so called ''shakin baby syndrome''. The infant is held by the thorax and shaken. Thus causing a repetitive acceleration-deceleration trauma, which leads to the typical paravertebral rib fractures, intracranial bleeding and eye injuries. After shaking the child is thrown away, with subsequent injuries. The aim of this article is the presentation of an overview regarding the radiology of the battered child. Typical examples will be shown. (orig.)

  11. Olmsted syndrome with hypotrichosis

    Directory of Open Access Journals (Sweden)

    Dogra Devraj

    1997-01-01

    Full Text Available Olmsted syndrome is characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. We report the case of an 8-year old boy who presented with severe keratoderma of the soles since birth and of the palms from the age of 3 years. At 3 years of age hyperkeratotic plaques appeared on the elbows and knees. The child developed keratotic lesions at the angle of the mouth 1 year later. The child had sparse thin easily pluckable hair. Light and scanning electron microscopic examination of the hair revealed several hair shaft abnormalities. Though the psychomotor development of the child was normal till 1 year of age, thereafter the keratoderma had largely restricted the child′s mobility. There was no history of hyperhidrosis and no dental abnormality was detected. The lesions had been unresponsive to keratolytics and had recurred after surgical removal. The patient was started on oral retinoids and topical keratolytics and had partially responded in 2 months.

  12. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  13. Growth charts for children with Ellis-van Creveld syndrome

    NARCIS (Netherlands)

    S. Verbeek (Sabine); P.H.C. Eilers (Paul); K.A. Lawrence (Karen); R.C.M. Hennekam (Raoul); F.G. Versteegh (Florens)

    2011-01-01

    textabstractEllis-van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 obs

  14. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  15. 妊娠中期血清标记物检测在唐氏综合症产前筛查中的探讨%To investigate the serum marker pregnancy detection in prenatal screening for Down syndrome

    Institute of Scientific and Technical Information of China (English)

    袁晃堆

    2015-01-01

    Objective:To study the analysis of second trimester maternal serum marker for prenatal screening of Down's syndrome and the significance. Methods:The selection of 2012.10-2013.10 in our hospital during the application of resolution immunofluorescence assay was used to detect 2468 cases of 15-20+6 weeks pregnant women were detected serum Free-, P-HCG, AFP markers and content, combined with maternal age, gestational weeks, single twins, smoking history, body mass, whether patients with diabetes, previous factors without abnormal pregnancy history, the use of Life Cycle 3 version of the system risk assessment.Results:The 2468 cases of pregnant women, screening out the abnormal chromosome 138 cases of pregnant women with high risk pregnancy, including 34 cases of pregnant women were amniocentesis antenatal examination, diagnosis of Down syndrome (English referred to as DS) in 8 cases, 1 cases of trisomy 18-syndrome, 4 cases of other fetal chromosomal abnormalities. DS maternal fetal blood AFP, free three female alcohol content was significantly lower than that in normal pregnant women;Free-beta-HCG was significantly higher than that of normal pregnant women, the difference was statistical y significant P<0.05. Trisomy 18-fetal maternal blood AFP, free three female alcohol, Free-beta-HCG was obviously lower than that of normal pregnant women, the difference was statistical y significant P<0.05. Conclusions:The second trimester serum marker examination can be used as an important index prediction of fetal chromosomal abnormalities, and take effective measures in a timely manner through the prenatal diagnosis, can significantly reduce the birth defects, to help students work.%目的:研究分析妊娠中期血清标记物在产前筛查唐氏综合症的意义。方法:择取2012.10-2013.10期间在我院应用实践分辨免疫荧光法检测的2468例孕15-20+6周的孕妇,均进行血清Free-β-HCG、AFP标记物含量检测,并结合孕妇的年龄、孕周

  16. [Isaacs's syndrome and associated diseases].

    Science.gov (United States)

    Watanabe, Osamu

    2013-01-01

    Isaacs' syndrome is an antibody-mediated potassium channel disorder. Clinical symptoms of Isaacs' syndrome are characterized by muscle cramp, slow relaxation following muscle contraction, and hyperhidrosis. Hyperexcitability of the peripheral nerve cause these symptoms, which are relieved by administration of Na channel blockers and immunotherapy.The target channel proteins are voltage-gated potassium channels (VGKCs). The suppression of voltage-gated outward K(+) current by antibodies induces hyperexcitability of the peripheral nerve. Electrophysiological findings show that antibodies may not directly block the kinetics of VGKCs, but may decrease channel density. From the electrophysiological, pharmacologic and immunologic view points, the site of origin of spontaneous discharges is located principally in the distal portion of the motor nerve."VGKC antibodies" are also detected in Morvan syndrome (severe insomnia with neuromyotonia and various autonomic disorders) and in a form of autoimmune limbic encephalitis. Recent studies indicated that the "VGKC antibodies" are mainly directed toward associated proteins (for example LGI-1, CASPR-2) that complex with VGKCs themselves. The "VGKC antibodies" are now usually known as VGKC-complex antibodies. In general, LGI-1 antibodies are most common in limbic encephalitis with SIADH. CASPR-2 antibodies are present in the majority of patients with Morvan syndrome.

  17. Primary prevention of Down's syndrome

    Directory of Open Access Journals (Sweden)

    2005-07-01

    Full Text Available Background: Antenatal screening has the capacity to detect more than 90% of Down's syndrome pregnancies leading to therapeutic abortion. Successes in recent years with such so-called 'secondary' prevention have not been matched with progress in primary prevention. Despite considerable research over many decades the principle cause of the disorder is unknown. Methods: This paper considers three potential primary prevention strategies, (1 avoiding reproduction at advanced maternal age, (2 pre-implantation genetic diagnosis for couples who are at high risk of Down's syndrome, and (3 folic acid supplementation. The principle aetiological hypotheses are also reviewed. Interpretation: A strategy of completing the family before a maternal age of 30 could more than halve the birth prevalence of this disorder. Women with a high a priori risk should have access to pre-implantation genetic diagnosis, which can lead to a reasonably high pregnancy rate with an extremely low risk of a Down's syndrome. The evidence suggesting an aetiological role for defective folate and methyl metabolism is not sufficient to justify an active preventative strategy of folic acid supplementation without performing a large clinical trial. Current supplementation policies designed to prevent neural tube defects may incidentally prevent Down's syndrome, provided a sufficiently high dose of folic acid is used. Further progress in primary prevention is hampered by limited aetiological knowledge and there is an urgent need to refocus research in that direction.

  18. [Isaacs's syndrome and associated diseases].

    Science.gov (United States)

    Watanabe, Osamu

    2013-01-01

    Isaacs' syndrome is an antibody-mediated potassium channel disorder. Clinical symptoms of Isaacs' syndrome are characterized by muscle cramp, slow relaxation following muscle contraction, and hyperhidrosis. Hyperexcitability of the peripheral nerve cause these symptoms, which are relieved by administration of Na channel blockers and immunotherapy.The target channel proteins are voltage-gated potassium channels (VGKCs). The suppression of voltage-gated outward K(+) current by antibodies induces hyperexcitability of the peripheral nerve. Electrophysiological findings show that antibodies may not directly block the kinetics of VGKCs, but may decrease channel density. From the electrophysiological, pharmacologic and immunologic view points, the site of origin of spontaneous discharges is located principally in the distal portion of the motor nerve."VGKC antibodies" are also detected in Morvan syndrome (severe insomnia with neuromyotonia and various autonomic disorders) and in a form of autoimmune limbic encephalitis. Recent studies indicated that the "VGKC antibodies" are mainly directed toward associated proteins (for example LGI-1, CASPR-2) that complex with VGKCs themselves. The "VGKC antibodies" are now usually known as VGKC-complex antibodies. In general, LGI-1 antibodies are most common in limbic encephalitis with SIADH. CASPR-2 antibodies are present in the majority of patients with Morvan syndrome. PMID:24291881

  19. MELAS综合征无创性基因突变分析方法研究%Identification of an ideal noninvasive method to detect A3243G gene mutation in MELAS syndrome

    Institute of Scientific and Technical Information of China (English)

    马祎楠; 戚豫; 方方; 杨艳玲; 张英; 王松涛; 许玉凤; 裴珮; 袁云; 卜定方

    2008-01-01

    目的 研究携带A3243G突变的线粒体脑病-乳酸酸中毒-卒中样发作(MELAS)综合征患者及其母系亲属的外周血、尿、毛囊、唾液和部分患者的肌肉组织A3243G基因突变率,找到用于检测突变率更敏感的组织,建立更佳的、无创性的检查手段.方法 收集25例MELAS患者及其母系亲属33例的外周血、尿、毛囊、唾液和部分患者的肌肉组织提取DNA,利用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测各组织中A3243G突变,根据酶切产物电泳条带密度值问的比例计算突变型线粒体DNA的含量,比较各组织A3243G突变率的差异.结果 25例患者外周血、尿、毛囊、唾液均榆测到A3243G突变,尿液中A3243G突变率(62%±9%)明显高于外周血巾的突变率(36%±10%)(t=-11.13,P<0.01).5例患者进行了肌活检,肌肉突变率44.9%~75.1%,尿液中A3243G突变率和肌肉中A3243G突变率存在正相关,(r=0.900,P=0.037).33例母系亲属中有28例在至少一种组织中检测到A3243G突变,尿液中A3243G突变率33.0%(5.O%-70.4%)明显高于外周血中的突变率8.0%(0-33.3%)(z=-4.197,P<0.01).患者及其母系亲属唾液和毛囊组织中A3243G突变率与外周血相比筹别均不大.结论 在MELAS患者及其母系亲属巾,尿液中A3243G突变率均明显高于外周血,尿液A3243G突变率分析可能是优于外周血线粒体分析的一种无创性方法.%objeetive To identify a better non.invasive method to detect the carrier of mitochondrial A3243G mutation,a cause of mitochondfial encephalopathy-lactic acidosis.stroke like episode (MELAS)syndrome.Methotis DNA was extracted from the peripheral blood,urine,hair follicle,and saliva of 25 MELAS syndrome patients carrying A3243G mutation and their mothers and other maternal relatives,33 persons in number,and the muscle tissues from 5 patients obtained by biopsy.A3243G mutation was detected by PCR-RFLP method,and the A3243G mutation ratio was identified by

  20. Leigh syndrome

    International Nuclear Information System (INIS)

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate neucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome. (author)

  1. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  2. MR Imaging of Ankle Impingement Syndromes

    Directory of Open Access Journals (Sweden)

    Seyed Hassan Mostafavi

    2010-05-01

    Full Text Available Ankle impingement syndromes are characterized by painful friction of joint tissues. This is both the cause and the effect of altered joint biomechanics. The leading causes of impingement lesions are posttraumatic ankle injuries, usually ankle sprains, resulting in chronic ankle pain. "nBased on anatomic and clinical viewpoints, there are five types of ankle impingement syndromes:"n1. Anterolateral"n2. Anterior"n3. Anteromedial"n4. Posteromedial"n5. Posterior"nCareful analyses of patient history and signs and symptoms at physical examination can suggest a specific diagnosis in most patients. MR imaging and MR arthrography are the most useful imaging methods for detecting the osseous and soft-tissue abnormalities present in these syndromes and for ruling out other potential causes of chronic ankle pain. "nThis presentation summarizes the MR imaging, and MR arthrography findings of ankle impingement syndromes.

  3. Postperfusion Syndrome in Cadaveric Liver Transplantations: A Retrospective Study

    Science.gov (United States)

    Aydınlı, Bahar; Karadeniz, Ümit; Demir, Aslı; Güçlü, Çiğdem Yıldırım; Kazancı, Dilek; Koçulu, Rabia; Haytural, Candan; Özgök, Ayşegül; Bostancı, Erdal Birol; Zorlu, Ali

    2016-01-01

    Objective To evaluate the factors that affects the postperfusion syndrome in cadaveric liver transplantations and the effect of the postperfusion syndrome on discharge from the hospital. Methods Patients who underwent cadaveric liver transplantations between 2007 and 2013 were scanned retrospectively. Intraoperative anaesthesia records, intensive care unit follow-up forms and discharge reports were examined from patient files. Overall, 43 patients having complete data were included in the study. The postperfusion syndrome is defined as asystoli or a decrease in mean arterial pressure of more than 30%, which occurred in the first 5 min of reperfusion and continued for 1 min. Patients were divided into two groups: those who had the postperfusion syndrome and those who did not. Results The number of patients who had the postperfusion syndrome was 25 of 43 (58.1%). The MELD score of patients without the postperfusion syndrome was calculated as 16.9±3.2 and that of patients with the postperfusion syndrome was 19.7±3.6. A statistically significant relationship was detected between the postperfusion syndrome occurrence and a high MELD score (p=0.013). The diastolic blood pressure just before reperfusion was statistically lower in the group with the postperfusion syndrome than in the other group (p=0.023, 50±8 vs. 58±11). According to the logistic regression analysis, the MELD score and the decrease in diastolic blood pressure before reperfusion were defined as independent predictive factors. Conclusion According to the study, the ratio for having the postperfusion syndrome was found to be 58.1%. The independent predictor factors affecting the postperfusion syndrome were detected as the MELD score and the decrease in diastolic blood pressure before reperfusion. The postperfusion syndrome during orthotropic liver transplantation is an important issue for anaesthesiologists. The awareness of the related factors with the postperfusion syndrome may help in the development

  4. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  5. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  6. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  7. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Reality Donate to Research Reality Fund October is Rett Syndrome Awareness Month Rettsyndrome.org is excited to provide ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome. ...

  8. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  9. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  10. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  11. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  12. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  13. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  14. Treacher Collins syndrome

    Science.gov (United States)

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  15. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  16. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  17. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  18. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  19. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  20. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  1. Familial cryptic translocation in Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Weyerts, L.K.; Wiley, J.E.; Loud, K.M. [ECU School of Medicine, Greenville, NC (United States)] [and others

    1994-09-01

    The majority of patients with Angelman syndrome have been shown to have a cytogenetic or molecular deletion on the maternally derived chromosome 15. We report on a case of Angelman syndrome in which this deletion occurs as an unbalanced cryptic translocation involving chromosomes 14 and 15. The proband was diagnosed clinically as having Angelman syndrome. Multiple cytogenetic studies were done without detecting any deletion. When DNA probes (Oncor) specific for the Prader Willi/Angelman locus became available, the patient was restudied and found to be deleted for {open_quotes}region A{close_quotes} (D15S11) but not for {open_quotes}region B{close_quotes} (GABRB3). No other abnormality was detected. The proband`s mother was then studied. The chromosome 15 marker probe and D15S11 were detected on different chromosomes. Using alpha-satellite probes, a cryptic 14;15 translocation was uncovered. This balanced translocation was also found to be carried by the sister of the proband. This case, along with a case presented at the 1993 ASHG meeting, illustrates the need for using acrocentric probes when studying Angelman syndrome patients. The proband was studied using additional probes specific for this region and found to be deleted for SNRPN but not for D15S10. The breakpoint of the translocation in this patient delineates the smallest deletion of the Angelman syndrome region reported to date and therefore may represent the specific gene involved.

  2. OPSOСLONUS-MYOCLONUS SYNDROME

    Directory of Open Access Journals (Sweden)

    N. A. Shnayder

    2015-02-01

    Full Text Available This article provides an overview of the Russian and foreign studies on paraneoplastic opsoсlonus-myoclonus syndrome. Opsoclonus is characterized by involuntary, arrhythmic, chaotic, multi-directional saccades with horizontal, vertical and torsional components, and it is commonly accompanied by cerebellar ataxia and myoclonic jerks in the trunk and limbs. It is a rare neurological disorder of unknown causes which appears to be the result of an autoimmune process involving the nervous system. Paraneoplastic opsoсlonus-myoclonus syndrome is most commonly associated with small-cell lung cancer, breast cancer, ovarian cancer, non-Hodgkin's lymphoma, renal adenocarcinoma. In children, a neuroblastoma is detected in approximately 50% of cases. Many autoantibodies have been detected in patients with paraneoplastic opsoсlonusmyoclonussyndrome: this finding suggests the involvement of a humoral immune mechanism. However, most patients are seronegative for these autoantibodies. Paraneoplastic opsoсlonus-myoclonus syndrome is less responsive to immunotherapy (corticosteroids, intravenous immunoglobulin, adrenocorticotropic hormone, plasma exchange, cyclophosphamide, or rituximab and improves only with tumor resection. Further studies are needed to further elucidate its immunopathogenesis and pathophysiology in order to develop novel and efficacious therapy.

  3. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  4. PRES syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  5. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  6. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  7. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  8. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.)

  9. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  10. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  11. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  12. Study of Intraabdominal Adiposity Detected by Ultrasonography in Infertility Patients with Polycystic Ovary Syndrome%超声检测PCOS不孕症患者腹腔内脂肪的研究

    Institute of Scientific and Technical Information of China (English)

    何冰; 谭卫红; 万里凯; 覃捷; 陆建柳; 滕敏; 覃利华

    2012-01-01

    目的 探讨经超声检测内脏脂肪厚度在多囊卵巢综合征(PCOS)诊疗中的价值,为更好地治疗PCOS不孕症提供依据.方法 采用超声检测199例育龄期PCOS及87例非PCOS患者的肝前脂肪、肝前皮下脂肪、内脏脂肪、腹部皮下脂肪,并测量身高、体重、腰围、臀围等,对两组间上述指标进行对比分析.结果 PCOS组肝前脂肪厚度、内脏脂肪厚度均大于非PCOS组(P<0.05);PCOS组的体重、体质量指数(BMI)、腰围、腹围、臀围、腰臀比(WHR)均明显高于非PCOS组(P<0.05);身高则差异无统计学意义(P>0.05).结论 PCOS不孕症患者腹腔内脂肪及腹部皮下脂肪厚度值均明显高于非PCOS不孕症患者,减重尤其是减少内脏脂肪堆积对治疗PCOS具有重要意义.%Objective To explore the value of prehepatic fat thickness measured by ultrasonography in the diagnosis and treatment of polycystic ovary syndrome( PCOS ),and to provide more references for the treatment of infertility patients with PCOS. Methods One hundred and ninty-nine PCOS cases of childbearing age( PCOS group ) and 87 non-PCOS cases( non-POCS group ) were enrolled in the study. Their prehepatic fat thickness,prehepatic subcutaneous fat thickness,visceral fat thickness and abdominal subcutaneous fat thickness were detected by ultrasound,and their height,weight,waist circumference and hip circumference were also measured. A comparison of the indices above was done between the two groups. Results Prehepatic fat thickness and visceral fat thickness of PCOS group were significantly larger than those of non-PCOS group( P 0. 05 ). Conclusion Intraabdominal adiposity and abdominal subcutaneous fat thickness of PCOS patients are significantly higher than those of non-PCOS patients. Weight-reducing,especially reducing visceral fat is of great importance to the treatment of PCOS.

  13. Detecting Down syndrome with a novel dual-color competitive quantitative fluorescent polymerase chain reaction method%双色竞争性荧光定量PCR检测唐氏综合征

    Institute of Scientific and Technical Information of China (English)

    吴苹; 李启杰; 夏增亮; 张发强; 岳琳琳; 陈清英; 王泓; 范春元; 夏庆杰

    2012-01-01

    Objective To develop a rapid method for the detection of Down syndrome (DS) using dual-color competitive quantitative fluorescent polymerase chain reaction(DCC-QF-PCR),and to assess its feasibility for the prenatal diagnosis of Down syndrome.Methods DNA was extracted from peripheral blood of 30 DS patients and 60 normal men,common primers for DSCR and USC2 genes and respective TaqMan probes were designed and synthesized.The results of DCC-QF-PCR were compared with those of QF-PCR which measured the ratio between DSCR and GAPDH. Forty-six amniotic fluid samples were assayed with DCC-QF-PCR.The results were compared with that of karyotyping.Monoclone fragments for DSCR and USC2 genes were obtained from direct cloning of PCR products.DCC-QF-PCR was carried out using different DNA ratios of DSCR and USC2 as the template.The dosage ratio between DSCR and USC2 was calculated.Results The gene dosage ratio of the DS patients was 1.41-1.74,which was significantly higher than that of normal men (0.93-1.15).The dosage ratio range of DSCR and GAPDH by QF-PCR was comparatively greater than that of DSCR and USC2.Three samples were diagnosed as DS,which was in good agreement with that of karyotyping analysis.There was no significant difference between the gene dosage ratio from DCC-QF-PCR and that of predetermined(P>0.05).Conclusion DCC-QF-PCR is an accurate,rapid,and low cost method,which only requires tiny amount of sample and therefore has broad application in the genetic and prenatal diagnosis.%目的 建立一种快速检测唐氏综合征(Down syndrome,DS)的双色竞争性荧光定量聚合酶链反应(dual-color competitive quantitative fluorescent polymerase chain reaction,DCC-QF-PCR)方法,并探讨其应用于DS产前诊断的可能性.方法 提取30例DS患者和60名正常人的外周血DNA,设计DSCR和USC2两基因的特异共用引物和双色特异性TaqMan探针,同一反应管中进行两基因的DCC-QF-PCR,并与DSCR和GAPDH两基因的QF-PCR

  14. Ellis-Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Le Merrer Martine

    2007-06-01

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

  15. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  16. Costello Syndrome. A case report

    Directory of Open Access Journals (Sweden)

    Yadelis Maldonado Martínez

    2014-06-01

    Full Text Available Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients.

  17. Syndromic classification of Twitter messages

    CERN Document Server

    Collier, Nigel

    2011-01-01

    Recent studies have shown strong correlation between social networking data and national influenza rates. We expanded upon this success to develop an automated text mining system that classifies Twitter messages in real time into six syndromic categories based on key terms from a public health ontology. 10-fold cross validation tests were used to compare Naive Bayes (NB) and Support Vector Machine (SVM) models on a corpus of 7431 Twitter messages. SVM performed better than NB on 4 out of 6 syndromes. The best performing classifiers showed moderately strong F1 scores: respiratory = 86.2 (NB); gastrointestinal = 85.4 (SVM polynomial kernel degree 2); neurological = 88.6 (SVM polynomial kernel degree 1); rash = 86.0 (SVM polynomial kernel degree 1); constitutional = 89.3 (SVM polynomial kernel degree 1); hemorrhagic = 89.9 (NB). The resulting classifiers were deployed together with an EARS C2 aberration detection algorithm in an experimental online system.

  18. Impingement syndrome of the shoulder

    International Nuclear Information System (INIS)

    The impingement syndrome is a clinical entity characterized by shoulder pain due to primary or secondary mechanical irritation of the rotator cuff. The primary factors for the development of impingement are a curved or hook-shaped anterior acromion as well as subacromial osteophytes, which may lead to tearing of the supraspinatus tendon. Secondary impingement is mainly caused by calcific tendinopathy, glenohumeral instability, os acromiale and degenerative changes of the acromioclavicular joint. Conventional radiographs are initially obtained, mainly for evaluation of the bony structures of the shoulder. If available, sonography can be used for detection of lesions and tears of the rotator cuff. Finally, MR-imaging provides detailed information about the relationship of the acromion and the acromioclavicular joint to the rotator cuff itself. In many cases however, no morphologic cause for impingement syndrome can be found. While patients are initially treated conservatively, chronic disease usually requires surgical intervention. (orig.)

  19. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana;

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  20. 应用甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR检测Prader-Willi综合征%Detecting Prader - Willi syndrome with methylation specific multiplex ligation -dependent probe amplification and methylation - specific PCR

    Institute of Scientific and Technical Information of China (English)

    欧展辉; 梁雄; 孙筱放

    2012-01-01

    目的 比较甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR两种方法检测Prader - Willi综合征.方法 应用细胞遗传学、甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR方法检测1个Prader - Willi综合征家系.结果 甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR方法均能对患者进行检测,为缺失型致病,而其父母未见异常.结论 甲基化特异性多重连接依赖性探针扩增方法检测Prader - Willi综合征比甲基化特异性PCR方法提供更多的致病信息.%Objective; Comparing methylation specific multiplex ligation -dependent probe amplification lo methylation - specific PCR methods of detecting Prader - Willi syndrome. Methods; Using cytogenelic analysis, methylation specific multiplex ligation-dependent probe amplification and methylaiion - specific PCR methods lo detect a Prader - Willi syndrome family. Results; methylation specific multiplex ligalion - dependent probe amplification and methylation - specific PCR methods could be used to detect Prader -Willi syndrome, and the patient was caused by deletion of relative gene in the 15q11 - q13 region, but his parents were normal. Conclusion ; Methylation specific multiplex ligation - dependent probe amplification was able to give more messages than methylation - specific PCR method.

  1. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  2. Accessing autonomic function can early screen metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Kan Sun

    Full Text Available BACKGROUND: Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. METHODOLOGY AND PRINCIPAL FINDINGS: The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend <0.0001. Moreover, EZSCAN value was associated with an increase in the number of metabolic syndrome components (p for trend <0.0001. Compared with the no risk group (EZSCAN value 0-24, participants at the high risk group (EZSCAN value: 50-100 had a 2.35 fold increased risk of prevalent metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61-0.64 for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. CONCLUSIONS AND SIGNIFICANCE: In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome.

  3. 筛查确诊的人免疫缺陷病毒感染52例分析%Retrospective analysis of 52 cases of screening-detected human immunodeficiency virus infection/acquired immunodeficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    高清云; 沈亮亮; 刘和平; 赵敬军

    2013-01-01

    目的 探讨人类免疫缺陷病毒(HIV感染/艾滋病)的流行现状及其临床特点.方法 回顾性分析2006-2011年,由上海市艾滋病检测中心复筛确诊的52例HIV感染者的流行病学资料及部分临床资料.结果 筛查对象以30~39岁年龄段的阳性检查率为最高,确诊的52例HIV感染/艾滋病患者男女之比为4.2∶1;家政服务及待业人员18例占34.62%,民工13例占25%,驾驶员10例占19.23%;外省市户籍35例占67.31%,上海市户籍17例占32.69%.感染途径中异性性传播23例占44.23%,其次是男男同性恋14例占26.92%; HIV感染合并梅毒11例,艾滋病期合并梅毒2例.艾滋病期临床表现以发热、外周血细胞减少、肺部感染为主.结论 综合性医院诊断的HIV感染/艾滋病患者中,感染途径以性传播为主,艾滋病患者的临床表现无特异性,外省市户籍及低教育水平人群的HIV感染需引起临床医生重视.%Objective To investigate the epidemiological and clinical characteristics of human immunodeficiency virus (HIV) infection / acquired immunodeficiency syndrome (AIDS) infection.Methods A retrospective study was carried out on 52 cases of screening-detected HIV infection/AIDS in the Department of Dermatology,Tongji Hospital from 2006 to 2011.The epidemiological and clinical data were collected and analyzed.Results People aged 30-39 years showed the highest detection rate of HIV infection/AIDS (0.14%,19/13 544) among all the subjects who underwent screening.The male to female ratio was 4.2 ∶ 1 in the 52 confirmed cases of HIV infection/AIDS.Of these patients,housekeeping workers and job-waiting people predominated (18,34.62%),followed by casual workers (13,25%) and drivers(10,19.23%); only 32.69% (17) hold a shanghai household registration,and the remaining 67.31% (35/52) hold non-shanghai household registration.The main route of HIV/AIDS transmission was heterosexual contact (23,44.23%),followed by male

  4. 荧光原位杂交法检测特纳氏综合征患者的微小标记染色体%Detection of small marker chromosome in patients with Turner's syndrome by flourescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    宋兰林; 刘晓力; 全松; 钟梅

    2001-01-01

    目的确定特纳氏综合征(Turner's syndrom)患者微小标记染色体(Small marker chromosome,smr)的来源。方法用X和Y染色体着丝粒特异的DNA探针进行荧光原位杂交(Fluorescence in situ hybridization,FISH),检测3例核型为45, X/46, X+smr的特纳氏综合征患者的smr。结果 2例患者smr染色体来源于Y染色体,1例来源于X染色体。结论FISH技术可快速准确鉴别微小标记染色体,对临床诊断和治疗方案的选择有重要指导作用。%Objective To identify the origin of small marker chromosome (smr) in the patients with Turner's syndrome. Method The small marker chromosome in 3 patients with Turner's syndrome, whose karyotype was 45, X / 46, X+smr, was hybridized by centromere DNA probe of X and Y chromosome through fluorescence in situ hybridization(FISH). Results The small marker chromosome in 2 patients were derived from Y chromosome and in the other patient, it was from X chromosome. Conclusion FISH can be applied to detect small marker chromosome, which is important to clinical diagnosis and the choice of therapy.

  5. Use of syndromic surveillance to early detect bioterrorism-related diseases in foreign military facilities and some revelations%症状监测在外军生物恐怖早期预警中的应用及启示

    Institute of Scientific and Technical Information of China (English)

    程瑾; 祖正虎; 徐致靖; 孙建中; 郑涛

    2012-01-01

    Syndromic surveillance, based on non-specific pre-diagnosis and other information, can give nearly real-time detection and early warning of potential bioterrorist and emerging infectious threats. This paper introduced the syndromic surveillance systems developed in military facilities of the U. S. , France, Canada and Singapore. It also discussed the trends of syndromic surveillance in early warning of bioterrorism and some revelations to China.%以非特异的症候群和(或)其他相关指示数据为基础的症状监测,能够对潜在生物恐怖袭击进行近乎实时的监测预警.本文在简介生物恐怖相关疾病症状监测系统特点的基础上,简要介绍美国、法国、加拿大和新加坡等外军医疗卫生系统应用的症状监测系统,讨论症状监测用于生物恐怖早期预警的发展趋势,以及对我国生物恐怖防御的启示.

  6. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

  7. 利用母血中胎儿有核红细胞结合血清筛查和三维超声无创性产前诊断唐氏综合征%Noninvasive prenatal screening of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum screening and three-dimensional ultrasound

    Institute of Scientific and Technical Information of China (English)

    相文佩; 温子娜; 水丽君; 徐晓燕; 陈汉平

    2011-01-01

    目的:利用母外周血中胎儿有核红细胞结合血清三联筛查及三维超声,建立快速无创性产前诊断唐氏综合征的有效模式.方法:早、中期孕妇共670例,采取血清三联筛查结合三维超声和病史选取唐氏高危孕妇,抽取高危孕妇的外周血,流式细胞术富集母血中的胎儿有核红细胞(Fetal Nucleated Red Blood Cells,FNRBCs);次日进行多重引物原位杂交(mutiprimed in situ labeling,multi-PRINS)检测胎儿细胞21号染色体与Y染色体.结果:通过血清三联筛查和三维超声结合病史筛选出高危孕妇24例,高危孕妇在两日内即可确诊,24例中诊断23例染色体正常胎儿,包括男胎12例、女胎11例;诊断1例男性唐氏综合征胎儿.24例标本检测结果和实际胎儿核型符合.结论:血清三联筛查、超声检查结合病史筛选出高危孕妇,然后利用母血中胎儿有核红细胞进行多重引物原位杂交检测细胞染色体,可作为快速、无创性产前诊断唐氏综合征的有效模式,并可为其他胎儿染色体基因异常或者宫内感染的无创性产前诊断提供参考.%Objective: To establish a rapid and effective noninvasive prenatal diagnostic model of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum triple screening and three -dimensional ultrasound. Methods:670 pregnant women of early, middle and late pregnancy were selected, the high risk pregnant women of Down's syndrome were chosen by senun triple screening combined with three - dimensional ultrasound and medical history; the peripheral blood samples of high risk pregnant women were abstracted, flow cytometry was used to enrich fetal nucleated erythrocytes in maternal blood; on the following day, multiple - primer in situ hybridization was used to detect Y chromosome and 21 chromosome in fetal cells. Results:24 high risk pregnant women of Down's syndrome were screened out by serum triple screening combined with

  8. Paraneoplastic Syndromes of the Central Nervous System

    NARCIS (Netherlands)

    J.W.B. Moll (Wibe)

    1996-01-01

    textabstractIn recent years a continuous stream of new information on clinical, pathological and immunological aspects of paraneoplastic neurological syndromes has been published. In this survey, we will discuss current opinions on the value of anti-neuronal antibody detection for establishing a dia

  9. Metastatic Basal cell carcinoma accompanying gorlin syndrome.

    Science.gov (United States)

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

    2014-01-01

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

  10. Detección de un síndrome de Brugada en un reconocimiento médico laboral Detection of a Brugada syndrome in a occupational medical examination

    Directory of Open Access Journals (Sweden)

    María Isabel Ruiz

    2011-09-01

    Full Text Available El síndrome de Brugada es una cardiopatía genética y no estructural debida a una alteración primaria de los canales iónicos del miocardio y que se asocia a un riesgo de muerte súbita. Hay tres patrones electrocadiográficos diagnósticos o sugerentes de síndrome de Brugada, que pueden ser identificados en un reconocimiento médico rutinario y que, de confirmarse el diagnóstico, pueden llevar a la necesidad de implantar un desfibrilador automático que puede salvar la vida del paciente. Se presente un caso asintomático diagnosticado en un reconocimiento laboral y se revisa la conducta a seguir ante un síndrome de Brugada.Brugada syndrome is a genetic, non-structural heart disease caused by a primary alteration of the myocardial ion channels and it is associated with increased risk of sudden death. There are three electrocardiographic patterns diagnostic or suggestive of Brugada syndrome which can be identified in routine medical examinations. If the diagnosis is confirmed, implantation of an automatic defibrillator may be life-saving. We report an asymptomatic case of Brugada syndrome diagnosed during an occupational health check and review the steps to be followed after diagnosis of this syndrome.

  11. Steroid-sensitive mechanism of soluble immune response suppressor production in steroid-responsive nephrotic syndrome.

    OpenAIRE

    Schnaper, H W; Aune, T M

    1987-01-01

    Soluble immune response suppressor (SIRS), a lymphokine that suppresses antibody production and delayed type hypersensitivity in vivo, has been detected in urine and serum from certain patients with nephrotic syndrome. In the present paper, the relationship between SIRS production and nephrotic syndrome is further characterized. A striking correlation was found between detection of SIRS and the presence of steroid-responsive nephrotic syndrome (SRNS). A potential mechanism of SIRS production ...

  12. Clinical significance of serum AFP, beta-HCG and Ue3 detection for Down`s syndrome screening%血清AFP、beta-HCG及Ue3检测对唐氏综合征筛查的临床意义

    Institute of Scientific and Technical Information of China (English)

    伍华颖; 彭淑莹; 刘健

    2015-01-01

    目的:探讨分析孕中血清中甲胎蛋白(AFP)、人绒毛膜促性腺激素(beta-HCG)及游离雌三醇(uE3)的检测对唐氏综合征筛查的临床意义。方法:从2009年10月到2013年1月期间来我院检查的980例孕中期妇女进行AFP、beta-HCG及uE3三项指标检测,结合孕妇的年龄、体重、孕周等因素,对于高风险的孕妇再进一步行B超或羊水细胞染色体进行确诊,观察不同年龄孕妇所产婴儿唐氏综合征的发生情况。结果:980例孕中期孕妇通过血清AFP、beta-HCG及uE3的检测,筛查唐氏综合征高风险52例(5.3%),经B超或羊水细胞染色体进行确诊唐氏综合征12例;35岁以上的孕妇唐氏综合征阳性风险率显著高于35岁以下的孕妇,差异具有统计学(P<0.05)。结论:孕中期检测血清中AFP、beta-HCG和uE3能够有效筛查出唐氏综合征阳性高风险孕妇,降低了唐氏综合征患儿的出生率,对于优生工作起到极大的辅助作用。%Objective:To explore the clinical significance of detecting serum α-fetoprotein (AFP) , human chorionic gonadotropin (beta HCG) and free estriol (uE3) in second trimester to screening Down’s syndrome. Methods:We detected the three indicators, serum AFP, beta - HCG and uE3, for the 980 pregnant women who had their check-ups in our hospital from October 2009 to January 2013. Combined with factors such as age, weight and gestational age, high-risk cases were further confirmed by ultrasonography or amniotic fluid cells chromosome. The purpose was to observe the occurrence of Down's syndrome in babies delivered by pregnant women at different ages.Results:Among the 980 pregnant women who went through the serum AFP, beta - HCG and uE3 detection in second trimester, 52 cases (5.3%) were at high risk of Down's syndrome and 12 cases were confirmed by ultrasonography or amniotic fluid cells chromosome. It is apparent that pregnant women over 35 years old suffer higher

  13. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.

    Science.gov (United States)

    Bademci, G; Cengiz, F B; Foster Ii, J; Duman, D; Sennaroglu, L; Diaz-Horta, O; Atik, T; Kirazli, T; Olgun, L; Alper, H; Menendez, I; Loclar, I; Sennaroglu, G; Tokgoz-Yilmaz, S; Guo, S; Olgun, Y; Mahdieh, N; Bonyadi, M; Bozan, N; Ayral, A; Ozkinay, F; Yildirim-Baylan, M; Blanton, S H; Tekin, M

    2016-01-01

    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies. PMID:27562378

  14. 应用下一代半导体靶向测序技术检测Marfan综合征致病突变%Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing

    Institute of Scientific and Technical Information of China (English)

    卢超霞; 吴炜; 肖继芳; 孟岩; 张抒扬; 张学

    2013-01-01

    目的 应用Ion Torrent PGM半导体测序仪和Ion AmpliSeqTMInherited Disease Panel对3例马凡综合征(Marfan syndrome,MFS)进行致病基因突变检测,明确其致病突变,并评价下一代半导体靶向测序诊断复杂单基因遗传病的效果.方法 在知情同意的基础上采集3例MFS患者及1名正常志愿者外周血,提取基因组DNA,经多重PCR扩增富集目的基因片段.每个样本用特异性序列标签进行标记后,应用Ion One Touch系统进行模板制备、乳化PCR及磁珠颗粒富集;最后用318半导体测序芯片进行高通量测序.用Ion Torrent Suite 3.2软件进行序列比对及SNPs和Indels提取,再用dbSNP 137数据库过滤得到SNPs和indels,剩余的可疑突变经Sanger法测序验证.结果 用一张318芯片得到855.80Mb的总数据量,4个样本的平均测序深度均达到100×以上,对目的区域的覆盖度在98%以上.数据经软件分析及数据库过滤后,在3例MFS患者中分别得到3个FBN1基因可疑突变,并经Sanger法测序验证,一个为已报道FBN1基因错义突变(p.E1811K),另外两个为新发现的突变,包括一个无义突变(p.E2264X),1个插入突变(p.L871FfsX23).结论 在3例MFS患者中都成功检出FBN1基因致病突变,表明半导体靶向测序可对复杂单基因遗传病进行高效、准确的基因诊断.%Objective To detect pathogenic mutations in Marfan syndrome (MFS) using an Ion Torrent Personal Genome Machine (PGM) and to validate the result of targeted next-generation semiconductor sequencing for the diagnosis of genetic disorders.Methods Peripheral blood samples were collected from three MFS patients and a normal control with informed consent.Genomic DNA was isolated by standard method and then subjected to targeted sequencing using an Ion AmpliseqTM Inherited Disease Panel.Three multiplex PCR reactions were carried out to amplify the coding exons of 328 genes including FBN1,TGFBR1 and TGFBR2.DNA fragments from different samples were

  15. Molecular diagnosis of Turner's syndrome.

    OpenAIRE

    Gicquel, C.; Cabrol, S; Schneid, H.; Girard, F; Le Bouc, Y

    1992-01-01

    Turner's syndrome is a common disorder which occurs in around 1/3000 live births in girls. Diagnostic use of polymorphic DNA markers for the X chromosome could help to reduce the number of time consuming karyotype analyses needed. The M27 beta probe maps on the X chromosome to Xcen-Xp11-22 and in 83% of female subjects detects heterozygosity with multiallelic polymorphism. In Southern blotting, a single X chromosome yields a single hybridisation band. In this study, genomic DNA was extracted ...

  16. MLASA SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    R. Fallah

    2007-02-01

    Full Text Available AbstractMitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and sideroblastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor. Microcytic sideroblastic anemia, mild lactic acidosis and inflammatory myopathy (myositis in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months.

  17. Detection of androgen receptor gene mutation in two pedigrees with an-drogen insensitivity syndrome%两个雄激素不敏感综合征家系中 AR基因突变检测

    Institute of Scientific and Technical Information of China (English)

    信艳萍; 吴庆华; 张毅; 史惠蓉

    2015-01-01

    目的:对两个疑似雄激素不敏感综合征( AIS)家系进行基因诊断和其他临床相关检查,旨在发现其致病基因并进行遗传咨询。方法:对两个AIS家系的先证者及相关成员行体格检查、染色体核型分析、内分泌检测及超声检查后,提取外周血全基因组DNA,扩增位于X染色体上AR基因的8个外显子,扩增产物测序后与基因库中正常人的序列进行比对,查找是否存在致病突变。结果:两个AIS家系的先证者均检测到AR基因突变,分别为c.2042T>C(p.681I>T)和c.1822C>T(p.608R>X),家系中女性携带者中检测出了上述位点的杂合突变。家系1先证者行腹腔镜性腺切除术后证实性腺为睾丸。结论:AR基因的p.681 I>T和p.608 R>X是两个AIS家系患者的致病性突变;对AR基因进行基因检测是46,XY性发育异常,特别是AIS有效的诊断方式。%Aim:Clinical and genetic tests were performed in two pedigrees suspected of androgen insensitivity syndrome ( AIS) to get the diagnosis and provide genetic counseling .Methods:Physical examination , karyotyping ,endocrinal tests and ultrasonography were performed in the probands and their relatives .Eight encoding exons of AR gene extracted from peripher-al blood were amplified by PCR .The products were compared with the normal gene sequences and further analyzed by direct DNA sequencing to find possible mutant gene .Results:Different mutations of AR gene were detected in both pedigrees , re-spectively, c.2042T>C(p.681I>T) and c.1822C>T(p.608R>X).Heterozygous double peaks at the same position were found in female carriers.In pedigree 1, the laparoscopic surgery was performed in the proband and the sex gland was con-firmed to be testis.Conclusion:These two types of mutation of AR gene may be the pathologic causes of AIS .Direct sequen-cing of AR gene is a rapid method to diagnose 46,XY disorder of sex development , especially for

  18. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  19. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  20. Hemolytic Uremic Syndrome in Children

    Science.gov (United States)

    ... KB)​​​​​ Alternate Language URL Hemolytic Uremic Syndrome in Children Page Content On this page: What is hemolytic ... spine. [ Top ] What causes hemolytic uremic syndrome in children? The most common cause of hemolytic uremic syndrome ...