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Sample records for bardet-biedl syndrome detection

  1. Bardet-Biedl Syndrome

    Science.gov (United States)

    ... Conference Audio/Video Recordings For Researchers & Industry Funding Philosophy Funded Grants & Researchers Apply for Funding Clinical Research ... problems but rarely polydactyly. Polydactyly is a defining feature of Bardet-Biedl syndrome, while neurologic problems almost ...

  2. Genetics Home Reference: Bardet-Biedl syndrome

    Science.gov (United States)

    ... poor visual acuity) and become legally blind by adolescence or early adulthood. Obesity is another characteristic feature of Bardet-Biedl syndrome . Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. ...

  3. Bardet-biedl syndrome presenting with end stage renal failure

    International Nuclear Information System (INIS)

    Ansari, R.M.; Junejo, A. M.

    2006-01-01

    A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly,obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival. (author)

  4. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

    NARCIS (Netherlands)

    Slavotinek, A. M.; Searby, C.; Al-Gazali, L.; Hennekam, R. C. M.; Schrander-Stumpel, C.; Orcana-Losa, M.; Pardo-Reoyo, S.; Cantani, A.; Kumar, D.; Capellini, Q.; Neri, G.; Zackai, E.; Biesecker, L. G.

    2002-01-01

    McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies. Bardet-Biedl syndrome is genetically heterogeneous with

  5. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    K K Singh

    2015-01-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  6. Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

    Science.gov (United States)

    Forsythe, Elizabeth; Sparks, Kathryn; Best, Sunayna; Borrows, Sarah; Hoskins, Bethan; Sabir, Ataf; Barrett, Timothy; Williams, Denise; Mohammed, Shehla; Goldsmith, David; Milford, David V; Bockenhauer, Detlef; Foggensteiner, Lukas; Beales, Philip L

    2017-03-01

    Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes ( BBS1-19 ) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD. We studied the prevalence and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the phenotype and identify risk indicators of CKD. Overall, 31% of children and 42% of adults had CKD; 6% of children and 8% of adults had stage 4-5 CKD. In children, renal disease was often detected within the first year of life. Analysis of the most commonly mutated disease-associated genes revealed that, compared with two truncating mutations, two missense mutations associated with less severe CKD in adults. Moreover, compared with mutations in BBS10 , mutations in BBS1 associated with less severe CKD or lack of CKD in adults. Finally, 51% of patients with available ultrasounds had structural renal abnormalities, and 35% of adults were hypertensive. The presence of structural abnormalities or antihypertensive medication also correlated statistically with stage 3b-5 CKD. This study describes the largest reported cohort of patients with renal disease in Bardet-Biedl syndrome and identifies risk factors to be considered in genetic counseling. Copyright © 2017 by the American Society of Nephrology.

  7. Genetics of human Bardet-Biedl syndrome, an updates.

    Science.gov (United States)

    Khan, S A; Muhammad, N; Khan, M A; Kamal, A; Rehman, Z U; Khan, S

    2016-07-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. In several cases of BBS, few other features such as metabolic defects, cardiovascular anomalies, speech deficits, hearing loss, hypertension, hepatic defects and high incidence of diabetes mellitus have been reported as well. The BBS displays extensive genetic heterogeneity. To date, 19 genes have been mapped on different chromosomes causing BBS phenotypes having varied mutational load of each BBS gene. In this review, we have discussed clinical spectrum and genetics of BBS. This report presents a concise overview of the current knowledge on clinical data and its molecular genetics progress upto date. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. 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.

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

    DEFF Research Database (Denmark)

    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....

  10. Inactivation of Bardet-Biedl syndrome genes causes kidney defects

    Science.gov (United States)

    Guo, Deng-Fu; Beyer, Andreas M.; Yang, Baoli; Nishimura, Darryl Y.; Sheffield, Val C.

    2011-01-01

    Bardet-Biedl syndrome (BBS) is a rare hereditary autosomal recessive disease associated with several features including obesity, hypertension, and renal abnormalities. The underlying mechanisms of renal defects associated with BBS remain poorly defined. We examined the histological, molecular, and functional renal changes in BBS mouse models that have features of the human disorder. Interestingly, obese hypertensive Bbs4−/− mice exhibited inflammatory infiltration and renal cysts, whereas the obese normotensive Bbs2−/− mice had only minor inflammatory infiltration. Accordingly, the expression level of inducible nitric oxide synthase was elevated in the kidney of both BBS mice with a more marked increase in Bbs4−/− mice. In contrast, endothelial nitric oxide synthase expression was decreased in Bbs4−/−, but not Bbs2−/−, mice. Similarly, the expression levels of transient receptor potential vanilloid 1 and 4 channels as well as β- and γ-subunits of epithelial Na channel were significantly reduced only in the kidney of Bbs4−/− mice. Metabolic studies revealed changes in urine output and urinary concentrations of creatinine, blood urea nitrogen, sodium, and potassium with a more pronounced effect in Bbs4−/− mice. Finally, we found that calorie restriction which prevented obesity in BBS mice reversed the morphological and molecular changes found in Bbs2−/− and Bbs4−/− mice, indicating the kidney abnormalities associated with BBS are obesity related. These findings extend our understanding of the function of BBS proteins and emphasize the importance of these proteins in renal physiology. PMID:21106857

  11. Bardet-Biedl syndrome: A rare case report from North India

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    Sumir Kumar

    2012-01-01

    Full Text Available The Bardet-Biedl syndrome (BBS is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.

  12. Genetic linkage analysis in 26 families with Bardet-Biedl syndrome

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    Wright, A.F.; Bruford, E.A.; Mansfield, D.C. [Western General Hospital, Edinburgh (United Kingdom)] [and others

    1994-09-01

    Bardet-Biedl syndrome is an autosomal recessive disorder characterized by polydactyly, obesity, hypogonadism, retinitis pigmentosa, renal anomalies and mental retardation. Clinical heterogeneity is quite marked both within and between families. Linkage has been reported between Bardet-Biedl syndrome and the D16408 marker in chromosomal region 16q21 in an extended Bedouin kindred and, more recently, in a subset of 17 out of 31 families using the PYGM/D11S913 markers in chromosomal region 11q13. We have analyzed linkage to the 16q21 and 11q13 regions and used markers covering chromosomes 2, 3, 17 and 18 in a set of 26 Bardet-Biedl families, each containing at least two affected individuals, with a total of 57 affected members. Evidence of linkage to the D11S527 locus has been identified assuming linkage homogeneity with a lod score of 2.72 at a recombination fraction of 0.11 (95% limits 0.03-0.25).

  13. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Luis Jesuino de Oliveira Andrade

    2009-10-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.A síndrome de Bardet-Biedl (BBS é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.

  14. [Elizabethkingia meningosepticum bacteremia in a patient with Bardet-Biedl syndrome and chronic renal failure].

    Science.gov (United States)

    Bayrak, Burcu; Fıncanci, Muzaffer; Bınay, Umut Devrim; Çımen, Cansu; Özkantar Ünlügüneş, Gülay Ulkü

    2014-07-01

    Elizabethkingia meningosepticum, a gram-negative opportunistic pathogen may cause life-threatening nosocomial infections especially in newborns and immunosuppressive patients. This bacterium has a peculiar antibiotic resistance profile. It is resistant to most of the antibiotics against gram-negative bacteria and susceptible to antibiotics that are used to treat gram-positive bacteria, such as vancomycin and trimethoprim-sulphamethoxazole (SXT). For this reason appropriate treatment of E.meningosepticum infections are based on the proper identification of bacteria. In this report, a case of catheter-related E.meningosepticum bacteremia in a patient with chronic renal failure due to Bardet-Biedl syndrome, a genetic disorder characterized by multiorgan dysfunction, was presented. A 25-year-old male patient with Bardet-Biedl syndrome was admitted to the emergency room with the complaints of high fever with shivers that started the day before. The patient had a femoral dialysis catheter. Venous blood samples drawn at the time of administration were cultured immediately. Two days later, blood cultures which yielded positive signals were passaged onto blood and MacConkey agar plates and after incubation at 37°C for 16 hours, wet-raised colonies with clear margin, gray colour and large size similar to gram-negative bacterial colonies were detected on blood agar medium. No growth was observed on MacConkey agar plate at the end of five days. The isolate was found positive for KOH, oxidase, catalase, urease, esculine and MOI (Motility Indole Ornithine) tests, whereas it was citrate negative. Gram staining revealed faintly stained thin gram-negative bacilli. The isolate was identified as E.meningosepticum by Vitek® 2 system (bioMérieux, USA), and confirmed by sequence analysis of 16S RNA gene region amplified with PCR method. The antibiotic susceptibility profile of the strain was detected by the Vitek 2 system, while vancomycin susceptibility was investigated by Kirby

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

    International Nuclear Information System (INIS)

    Valavi, Ehsan; Ahmadzadeh Ali; Ansari, Mohammad Javad Alemzadeh

    2009-01-01

    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. [Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].

    Science.gov (United States)

    Castro-Sánchez, Sheila; Álvarez-Satta, María; Pereiro, Inés; Piñeiro-Gallego, M Teresa; Valverde, Diana

    2015-08-21

    Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyse our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort. We analysed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families). By means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women). The proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

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

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    Hamlington, Barbara; Ivey, Lauren E.; 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 children with BBS participated in semi-structured interviews informed by social stigmatization theory, which describes courtesy stigma as parental perception of stigmatization by association with a stigmatized child. Parents were asked to describe such experiences. Results Parents of children with BBS reported the child’s obesity as the most frequent target of stigmatization. They perceived health care providers as the predominant source of courtesy stigma, describing interactions that resulted in feeling devalued and judged as incompetent parents. Conclusions Parents of children with BBS feel blamed by others for their child’s obesity and described experiences that suggest health care providers may contribute to courtesy stigma and thus impede effective communication about managing obesity. Health care providers may reinforce parental feelings of guilt and responsibility by repeating information parents may have previously heard and ignoring extremely challenging barriers to weight management, such as a genetic predisposition to obesity. Strategies to understand and incorporate parents’ perceptions and causal attributions of their children’s weight may improve communication about weight control. PMID:26473736

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

    Directory of Open Access Journals (Sweden)

    Barbara Hamlington

    Full Text Available 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.Twenty-eight parents of children with BBS participated in semi-structured interviews informed by social stigmatization theory, which describes courtesy stigma as parental perception of stigmatization by association with a stigmatized child. Parents were asked to describe such experiences.Parents of children with BBS reported the child's obesity as the most frequent target of stigmatization. They perceived health care providers as the predominant source of courtesy stigma, describing interactions that resulted in feeling devalued and judged as incompetent parents.Parents of children with BBS feel blamed by others for their child's obesity and described experiences that suggest health care providers may contribute to courtesy stigma and thus impede effective communication about managing obesity. Health care providers may reinforce parental feelings of guilt and responsibility by repeating information parents may have previously heard and ignoring extremely challenging barriers to weight management, such as a genetic predisposition to obesity. Strategies to understand and incorporate parents' perceptions and causal attributions of their children's weight may improve communication about weight control.

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

    Science.gov (United States)

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

    2015-01-01

    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. Twenty-eight parents of children with BBS participated in semi-structured interviews informed by social stigmatization theory, which describes courtesy stigma as parental perception of stigmatization by association with a stigmatized child. Parents were asked to describe such experiences. Parents of children with BBS reported the child's obesity as the most frequent target of stigmatization. They perceived health care providers as the predominant source of courtesy stigma, describing interactions that resulted in feeling devalued and judged as incompetent parents. Parents of children with BBS feel blamed by others for their child's obesity and described experiences that suggest health care providers may contribute to courtesy stigma and thus impede effective communication about managing obesity. Health care providers may reinforce parental feelings of guilt and responsibility by repeating information parents may have previously heard and ignoring extremely challenging barriers to weight management, such as a genetic predisposition to obesity. Strategies to understand and incorporate parents' perceptions and causal attributions of their children's weight may improve communication about weight control.

  20. Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

    Directory of Open Access Journals (Sweden)

    Marshall Jan D

    2011-08-01

    Full Text Available Abstract Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature. Case presentation We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis. Conclusions Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.

  1. 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

  2. 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

  3. Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

    DEFF Research Database (Denmark)

    Hjortshøj, Tina Duelund; Grønskov, Karen; Philp, Alisdair R

    2010-01-01

    . Triallelic inheritance has been suggested in about 5% of cases. Forty-nine unrelated BBS patients were screened for mutations by DHPLC analysis in BBS1, BBS2, BBS4, BBS6/MKKS, BBS10, and BBS12. The selected genes either account for more than 5% of the mutational load or are commonly reported in triallelic...... inheritance. Eight patients with only one or no BBS mutation were further investigated by single nucleotide polymorphism (SNP) analysis. In total, mutations were detected in 44 patients. Twenty percent had two mutations in BBS1, 18% in BBS2, 4% in BBS9, 43% in BBS10, and 2% in BBS12. Five patients were...... heterozygous for a sequence variation in BBS6/MKKS. We found eight patients with three sequence variations in two genes, which could be explained by triallelic inheritance, by the prevalence of heterozygous carriers or the third sequence variations representing rare polymorphisms. All changes found in a second...

  4. EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

    Science.gov (United States)

    Farmer, Amy; Aymé, Ségolène; de Heredia, Miguel Lopez; Maffei, Pietro; McCafferty, Susan; Młynarski, Wojciech; Nunes, Virginia; Parkinson, Kay; Paquis-Flucklinger, Véronique; Rohayem, Julia; Sinnott, Richard; Tillmann, Vallo; Tranebjaerg, Lisbeth; Barrett, Timothy G

    2013-08-27

    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 characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.

  5. Bardet-Biedl syndrome: Mapping of a new locus to chromosome 3 and fine-mapping of the chromosome 16 linked locus

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    Kwitek-Black, A.E.; Rokhlina, T.; Nishimura, D.Y. [Univ. of Iowa, Iowa City, IA (United States)] [and others

    1994-09-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by mental retardation, post-axial polydactyly, obesity, retinitis pigmentosa, and hypogonadism. Other features of this disease include renal and cardiovascular abnormalities and an increased incidence of hypertension and diabetes mellitus. The molecular etiology for BBS is not known. We previously linked BBS to chromosome 16q13 in a large inbred Bedouin family, and excluded this locus in a second large inbred Bedouin family. We now report linkage of this second family to markers on chromosome 3q, proving non-allelic, genetic heterogeneity in the Bedouin population. A third large inbred Bedouin family was excluded from the 3q and 16q BBS loci. In addition to the identification of a new BBS locus on chromosome 3, we have identified and utilized additional short tandem repeat polymorphisms (STRPs) in the 16q BBS region to narrow the candidate interval to 3 cM. Additional recombinant individuals will allow further refinement of the interval. Identification of genes causing BBS has the potential to provide insight into diverse genetic traits and disease processes including obesity, hypertension, diabetes, retinal degeneration, and abnormal limb, renal and cardiac development.

  6. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

    Science.gov (United States)

    Esposito, Gabriella; Testa, Francesco; Zacchia, Miriam; Crispo, Anna Alessia; Di Iorio, Valentina; Capolongo, Giovanna; Rinaldi, Luca; D'Antonio, Marcella; Fioretti, Tiziana; Iadicicco, Pasquale; Rossi, Settimio; Franzè, Annamaria; Marciano, Elio; Capasso, Giovanbattista; Simonelli, Francesca; Salvatore, Francesco

    2017-02-01

    Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS. In 12 patients, we identified gene-specific biallelic variants and thus correlated genotype to the ophthalmic, renal and audio-vestibular phenotypes. At least one sequence variant was found in 60% of patients. The most common mutated gene was BBS1 followed by BBS10. Of the 17 sequence variants we found, 11 have not previously been associated with BBS. In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. However, retinal dystrophy was less severe in patients with BBS1 than in those with BBS10 variants. Overall, we found a high prevalence of renal dysmorphism and dysfunction. Notably, patients with BBS10 variants had the most severe renal impairment, which resulted in a critical decline in renal function. All the patients who underwent audio-vestibular evaluation had dysfunction of the cochlear outer hair cells, thus confirming the presence of hearing defects. BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients. BBS10 was associated with the worse outcome in terms of the renal, ocular and audiovestibular phenotypes. Cochlear dysfunction should be included among the hallmarks of BBS.

  7. 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.

  8. Bardet-biedel syndrome: a case report and a review of literature ...

    African Journals Online (AJOL)

    Background: Bardet- Biedl syndrome (BBS) is a group of autosomal recessive conditions with overlapping phenotype of rod-cone dystrophy, central obesity, mental retardation, and hypogonadism. There are very few reports of BBS from Sub-Saharan Africa. Objective: To report a case of BBS and review existing literature on ...

  9. 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 Diseases... (C10) > Central Nervous System Diseases (C10.228) > Brain Diseases (C10.228.140) > Hypothalamic Diseases... (C10.228.140.617) > Bardet-Biedl Syndrome (C10.228.140.617.200) Congenital, Hereditary, and Neonatal Diseases

  10. 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.

  11. 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 System Diseases... (C10) > Central Nervous System Diseases (C10.228) > Brain Diseases (C10.228.140) > Hypothalamic Diseases... (C10.228.140.617) > Bardet-Biedl Syndrome (C10.228.140.617.200) Congenital, Hereditary, and Neonatal Diseases

  12. Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body disarray.

    Science.gov (United States)

    Stenram, Unne; Cramnert, Catarina; Axfors-Olsson, Helene

    2007-07-01

    A girl with polydactyly has had respiratory tract problems, including atelectasis, since birth. She has a high arched palate, a tongue hamartoma and dysmorphic face. Electron microscopy of nasal and bronchial brush biopsies repeatedly revealed centriole/basal body disarray and extreme sparseness of cilia. At the age of 2 years and 11 months, she displayed retardation of both motor and mental skills. The manifestations tally with a ciliopathy, partly with the Bardet--Biedl syndrome (BBS) but especially with the oralfacialdigital syndrome (OFDS); however, with the addition of persistent respiratory tract problems. As these two syndromes are considered to be due to mutations affecting the centriole/basal body apparatus, the ultrastructural demonstration of disarray of these structures, never before demonstrated in such a patient, is of fundamental interest.

  13. The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.

    Science.gov (United States)

    Sheffield, Val C

    2010-01-01

    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder affecting multiple organ systems and resulting in blindness, obesity, cognitive impairment, and congenital defects. Interest in the etiology of this disorder stems, in part, from the fact that patients with BBS develop common clinical problems, including obesity, diabetes and hypertension. Twelve genes independently causing BBS have been identified. The heterogeneity is explained by the existence of two BBS complexes, the BBSome consisting of seven known BBS proteins, and the BBS chaperone complex consisting of three known BBS proteins. The formation of the BBSome requires the function of the BBS chaperone complex. Both mouse and zebrafish data support a role for BBS genes in cilia function, and in intracellular and intraflagellar trafficking. From the work described here, a common primary function of BBS proteins has emerged, specifically the mediation and regulation of microtubule-based intracellular transport.

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

    Science.gov (United States)

    2017-09-15

    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

  15. Stemcell Information: SKIP000063 [SKIP Stemcell Database[Archive

    Lifescience Database Archive (English)

    Full Text Available -Bardet)-Biedl Syndrome 209900 ... -- -- ... Yes No intractable disease-specific iPSC, Bardet-Biedl syndrome... 難病性疾患克服事業iPS細胞バンク Bardet-Biedl syndrome human ES-like -- Sendai virus Sendai Virus (DNAVEC: CytoTuneTM-i... SKIP000063 ... Diseased A000088#12 A000088#12 ... ローレンス・ムーン症候群 Q878 Laurence-Moon(

  16. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  17. Clinical and Molecular Investigations Into Ciliopathies

    Science.gov (United States)

    2018-03-27

    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

  18. Non-essential role for cilia in coordinating precise alignment of lens fibres

    Czech Academy of Sciences Publication Activity Database

    Sugiyama, Y.; Shelley, E.J.; Yoder, B.K.; Kozmik, Zbyněk; May-Simera, H.L.; Beales, P.L.; Lovicu, F.J.; McAvoy, J.W.

    2016-01-01

    Roč. 139, FEB 2016 (2016), s. 10-17 ISSN 0925-4773 R&D Projects: GA ČR GA15-23675S Institutional support: RVO:68378050 Keywords : Lens * Primary cilium * ift88 * Bardet-Biedl Syndrome (BBS) * Planar cell polarity (PCP) Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.333, year: 2016

  19. 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...

  20. 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.

  1. Inherited Retinal Degenerative Disease Registry

    Science.gov (United States)

    2017-09-13

    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

  2. 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)

  3. Marfan's Syndrome: Detection and Management.

    Science.gov (United States)

    Cantwell, J D

    1986-07-01

    In brief: Marian's syndrome has gained increased attention and interest recently, more so since the death of volleyball star Flo Hyman last January. The disorder was first described by French pediatrician Antoine Bernard-Jean Marfan in 1896, although it may not have been the same syndrome as we know it today. Current thought suggests a defect in collagen-the fibrous material found in bones, joints, eyes, heart, and blood vessels. Positive diagnosis requires the presence of at least two of four major features: a positive family history and ocular, cardiac, and skeletal abnormalities. This article reviews the disease and discusses methods of detection and management.

  4. Prenatal Diagnosis of Isolated Fetal Hydrocolpos Secondary to Congenital Imperforate Hymen

    Directory of Open Access Journals (Sweden)

    Jenn-Jhy Tseng

    2008-06-01

    Full Text Available A 32-year-old primigravida was referred to our hospital at 36 weeks of gestation with a fetal pelvic mass. Ultrasonography showed the fluid-filled area to be a 9 × 4 × 5-cm pear-shaped retrovesical mass with a funnel-shaped blind pouch at the distal end of the fetal vagina. Marked left hydronephrosis resulting from mass compression was also detected. Fetal magnetic resonance imaging further defined a pelvic lesion extending cephalically into the abdomen and caudally into the vagina. Membranal protrusion of the introitus was clearly identified. Therefore, the diagnosis of congenital imperforate hymen with hydrocolpos was established. At 38 weeks of gestation, a 2,966-g female infant was delivered vaginally with good Apgar scores. Physical examination of the neonate revealed a bulging membrane covering the vaginal opening. The presence of syndromic disorders (McKusick-Kaufman, Ellis-van Creveld or Bardet-Biedl syndromes, genitourinary and anorectal anomalies were excluded. The karyotype was 46, XX. A hymenotomy was performed on the second day of life. The infant recovered fully after hymenotomy.

  5. SEPT9_v1 Functions in Breast Cancer Cell Division

    Science.gov (United States)

    2012-01-01

    to the primary cilium. Science 320(5884):1777–1781. Kremer BE, Adang LA , Macara IG. 2007. Septins regulate actin organization and cell-cycle arrest...Chlamydomonas eugametos gametes. Planta 167(4):544–553. Mykytyn K, Sheffield VC. 2004. Establishing a connection between cilia and Bardet-Biedl syndrome...782–793. Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bia- las NJ, Stupay RM, Chen N, Blacque OE., et al. 2011. MKS and NPHP modules

  6. [Progress of cytogenetic detection in myelodysplastic syndromes].

    Science.gov (United States)

    Zhou, Qing-Bing; Hu, Xiao-Mei; Liu, -Feng; Ma, Rou

    2011-12-01

    In recent years, significant progresses have been got in study on pathogenesis, treatment and prognosis of myelodysplastic syndromes (MDS), especially on use of new technology, that has great importance for cytogenetics of MDS. Recently, the progress of cytogenetic detection in MDS is very remarkable. Based on the metaphase cytogenetics (MC) method, prognostic significance of cytogenetics in MDS was clarified gradually. For example, people have known the prognostic significance of 12 p-, 11 q-, +21, t(11(q23)), although these genetic abnormalities are rare in the MDS. In addition, chromosome mutation emerged in the process of MDS may indicate the poor prognosis. On the other hand, with the use of SNP-A and aCGH in the study of genetics, MDS cytogenetic abnormality detection rate has been further improved and can reach to 78%. At the same time, some of MDS patients with the "normal karyotype" detected by MC have new hidden aberrations through the SNP or CGH detection, and these patients have a poorer prognosis. In this review, the advances of study on cytogenetic detection for MDS based on MC and SNP-A or aCGH methods are summarized.

  7. Catatonic syndrome: From detection to therapy.

    Science.gov (United States)

    Madigand, J; Lebain, P; Callery, G; Dollfus, S

    2016-08-01

    Catatonia is a psychomotor syndrome which can include motor, mental, behavioral and vegetative symptoms. Exclusively associated with schizophrenia until the 1970s, catatonia still remains an under-diagnosed syndrome with significant morbidity and mortality. As a result of its different forms and developments, catatonic syndrome can be associated with many organic and psychiatric etiologies and confused with a variety of diagnoses. In addition to its organic complications, malignant catatonia can also be extremely severe. Several diagnostic scales are described, those of Bush and Peralta being the most widely used. Despite the recent development of the DSM-5, we can regret the lack of progress in the international classifications concerning both the recognition of the etiological diversity of this syndrome and in the clinical and therapeutic approaches to it. The diagnosis is based solely on clinical data, and needs to be completed by information from paraclinical settings, particularly with respect to detecting organic etiology. The first-line treatment is still based on the use of certain benzodiazepines or benzodiazepine-like agents such as lorazepam, diazepam and zolpidem. If the first or second line fails, or in case of malignant catatonia, electroconvulsive therapy is recommended. For the periodic form, no large-sample study has been performed on long-term treatment. A few case reports suggest the use of lithium in periodic catatonia, specifically to prevent recurrent episodes or at least to extend the inter-episode intervals. Other studies are in favor of the use of benzodiazepines, with disagreement between gradual discontinuation and long-term treatment. Concerning the management of catatonia in patients with schizophrenia, for whom first-line benzodiazepines are often insufficient, certain atypical antipsychotics such as clozapine or quetiapine appear efficient. These data are also applicable to children and adolescents. Often neglected by practitioners

  8. the sensitivity of a syndromic management approach in detecting ...

    African Journals Online (AJOL)

    MANAGEMENT APPROACH IN. DETECTING SEXUALLY. TRANSMITTED DISEASES IN. PATIENTS AT A PUBLIC HEALTH. CLINIC IN CAPE TOWN. C Mathews, A van Rensburg, N Coetzee. Objectives. To evaluate the sensitivity of a syndromic diagnostic procedure in detecting and treating sexually transmitted diseases ...

  9. A simulation study comparing aberration detection algorithms for syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Painter Ian

    2007-03-01

    Full Text Available Abstract Background The usefulness of syndromic surveillance for early outbreak detection depends in part on effective statistical aberration detection. However, few published studies have compared different detection algorithms on identical data. In the largest simulation study conducted to date, we compared the performance of six aberration detection algorithms on simulated outbreaks superimposed on authentic syndromic surveillance data. Methods We compared three control-chart-based statistics, two exponential weighted moving averages, and a generalized linear model. We simulated 310 unique outbreak signals, and added these to actual daily counts of four syndromes monitored by Public Health – Seattle and King County's syndromic surveillance system. We compared the sensitivity of the six algorithms at detecting these simulated outbreaks at a fixed alert rate of 0.01. Results Stratified by baseline or by outbreak distribution, duration, or size, the generalized linear model was more sensitive than the other algorithms and detected 54% (95% CI = 52%–56% of the simulated epidemics when run at an alert rate of 0.01. However, all of the algorithms had poor sensitivity, particularly for outbreaks that did not begin with a surge of cases. Conclusion When tested on county-level data aggregated across age groups, these algorithms often did not perform well in detecting signals other than large, rapid increases in case counts relative to baseline levels.

  10. 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.

  11. Compositions and methods for detecting Noonan syndrome

    Science.gov (United States)

    Gelb, Bruce D [New York, NY; Tartaglia, Marco [Rome, IT; Pennacchio, Len [Walnut Creek, CA

    2012-07-17

    Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.

  12. The sensitivity of a syndromic management approach in detecting ...

    African Journals Online (AJOL)

    Objectives. To evaluate the sensitivity of a syndromic diagnostic procedure in detecting and treating sexually transmitted diseases (STDs) and genital tract infections (GTIs). Methods. All new patients presenting at an STD clinic were sampled systematically by gender over a 6-week period. After the patient's clinical ...

  13. Detection of Herpes Simplex Virus DNA in Pseudoexfoliation Syndrome

    Directory of Open Access Journals (Sweden)

    Masoomeh Eghtedari

    2009-06-01

    Full Text Available Background: Pseudoexfoliation syndrome is one of the mostcommon identifiable causes of open angle glaucoma. It hasunknown etiology and pathogenesis. Infection, possibly viral,is one of the proposed pathogenic mechanisms in this condition.In the present study the presence of herpes simplex virus(HSV in specimens of anterior lens capsule of patients withpseudoexfoliation syndrome has been assessed.Methods: The presence of HSV- DNA was searched by usingpolymerase chain reaction method in specimens of anteriorlens capsule (5 mm diameter of 50 patients with pseudoexfoliationsyndrome (study group and 50 age-matchedpatients without the disease (control group who underwentcataract or combined cataract and glaucoma surgery duringa one-year (2006-2007 period in Khalili Hospital, Shiraz,Iran. The results were compared statistically with Chisquaretest and independent samples t test using SPSS software(version 11.5.Results: HSV type I DNA was detected in 18% of the patientsin the study group compared with 2% in the control group (Chisquare test, P = 0.008. The difference between the ranges ofintraocular pressure in the two groups was not statistically significant.Conclusion: The presence of HSV type I DNA suggests thepossible relationship between the virus and pseudoexfoliationsyndrome. It may be a treatable etiology in this multi-factorialdisorder and may help to future management of patients; especiallyto prevent some of the complications in this syndrome.

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

    DEFF Research Database (Denmark)

    Airik, Rannar; Schueler, Markus; Airik, Merlin

    2016-01-01

    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, ERC...

  15. Q fever outbreaks: a syndromic approach for detection of hidden clusters.

    NARCIS (Netherlands)

    Wijngaard, C.C. van den; Schimmer, B.; Nagelkerke, N.J.D.; Vellema, P.; Donker, G.A.; Koopmans, M.P.G.

    2009-01-01

    OBJECTIVE: To explore - using syndromic data - whether there is evidence for local Q fever outbreaks before detection of the known 2007 outbreak in the Netherlands and whether syndromic surveillance could have accelerated their detection. BACKGROUND: For many years, Q-fever has been very rare in the

  16. Degos' syndrome. Detection of intestinal lesion by digital subtraction angiography

    International Nuclear Information System (INIS)

    Bilbao, J.I.; Garcia Delgado, F.; Idoate, M.; Arejola, J.M.; Aquerreta, D.; Otero, M.

    1986-01-01

    Degos' syndrom consists in a generalized vasculitis with frequent affectation of the gut and the skin. The arteriographic findings in a patient with the diagnosis of Degos' syndroms and severe affectation of the gut are reported [fr

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

    OpenAIRE

    Jimena Sanz-Bueno; Daniella Cullen; Carlos Zarco; Francisco Vanaclocha

    2014-01-01

    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.

  18. 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.

  19. Gorlin syndrome – an incidental radiographic detection | Shetty | SA ...

    African Journals Online (AJOL)

    Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.1 It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to ...

  20. 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.

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

    Science.gov (United States)

    Rapacchia, Giuseppina; Lapucci, Cristina; Pittalis, Maria Carla; Youssef, Aly; Farina, Antonio

    2015-01-01

    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.

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

    OpenAIRE

    Rapacchia, Giuseppina; Lapucci, Cristina; Pittalis, Maria Carla; Youssef, Aly; Farina, Antonio

    2015-01-01

    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 ...

  3. 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.

  4. Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.

    Directory of Open Access Journals (Sweden)

    Martin Stofanko

    Full Text Available Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that we have called Microdeletion/Microduplication Quantitative Fluorescent PCR (MQF-PCR. Our procedure is based on the finding of genomic regions with high homology to segments of the critical microdeletion/microduplication region. PCR amplification of both using the same primer pair, establishes competitive kinetics and relative quantification of amplicons, as happens in microsatellite-based Quantitative Fluorescence PCR. We used patients with two common microdeletion syndromes, the Williams-Beuren syndrome (7q11.23 microdeletion and the 22q11.2 microdeletion syndromes and discovered that MQF-PCR could detect both with 100% sensitivity and 100% specificity. Additionally, we demonstrated that the same principle could be reliably used for detection of microduplication syndromes, by using patients with the Lubs (MECP2 duplication syndrome and the 17q11.2 microduplication involving the NF1 gene. We propose that MQF-PCR is a useful procedure for laboratory confirmation of the clinical diagnosis of microdeletion/microduplication syndromes, ideally suited for use in developing countries, but having general applicability as well.

  5. Genetic Counseling and Mongolism (Down's Syndrome): Prediction, Detection, Prevention.

    Science.gov (United States)

    Schlichte, John E.

    Intended for use by the public as well as by medical professionals and related service agencies, the booklet presents genetic counseling as a means of providing information to deal with genetic disorders in general and mongolism (Down's syndrome) in particular. Characteristics of mongolism and possible emotional effects on the family of a…

  6. Primary ciliogenesis defects are associated with human astrocytoma/glioblastoma cells

    Directory of Open Access Journals (Sweden)

    Rattner Jerome B

    2009-12-01

    Full Text Available Abstract Background Primary cilia are non-motile sensory cytoplasmic organelles that have been implicated in signal transduction, cell to cell communication, left and right pattern embryonic development, sensation of fluid flow, regulation of calcium levels, mechanosensation, growth factor signaling and cell cycle progression. Defects in the formation and/or function of these structures underlie a variety of human diseases such as Alström, Bardet-Biedl, Joubert, Meckel-Gruber and oral-facial-digital type 1 syndromes. The expression and function of primary cilia in cancer cells has now become a focus of attention but has not been studied in astrocytomas/glioblastomas. To begin to address this issue, we compared the structure and expression of primary cilia in a normal human astrocyte cell line with five human astrocytoma/glioblastoma cell lines. Methods Cultured normal human astrocytes and five human astrocytoma/glioblastoma cell lines were examined for primary cilia expression and structure using indirect immunofluorescence and electron microscopy. Monospecific antibodies were used to detect primary cilia and map the relationship between the primary cilia region and sites of endocytosis. Results We show that expression of primary cilia in normal astrocytes is cell cycle related and the primary cilium extends through the cell within a unique structure which we show to be a site of endocytosis. Importantly, we document that in each of the five astrocytoma/glioblastoma cell lines fully formed primary cilia are either expressed at a very low level, are completely absent or have aberrant forms, due to incomplete ciliogenesis. Conclusions The recent discovery of the importance of primary cilia in a variety of cell functions raises the possibility that this structure may have a role in a variety of cancers. Our finding that the formation of the primary cilium is disrupted in cells derived from astrocytoma/glioblastoma tumors provides the first

  7. Catatonic syndrome: importance of detection and treatment with lorazepam.

    Science.gov (United States)

    Seethalakshmi, R; Dhavale, S; Suggu, Kalpana; Dewan, Mantosh

    2008-01-01

    A resurgence of interest has led to renewed attempts to clarify the concept and treatment of catatonia. A large prospective study was conducted to estimate the incidence of catatonic syndrome in 138 consecutive psychiatric patients admitted to a general hospital in India, to demarcate the common symptom presentations and its response to intravenous benzodiazepines. Patients were screened using the Bush Francis Catatonia Screening Instrument. Patients with two or more signs on the Instrument were subsequently administered intravenous lorazepam and their response was rated on the Bush Francis Catatonia Rating Scale. Catatonic syndrome was found in 11% of patients with a wide variety of diagnoses, especially schizophrenia. Mutism (87.5% incidence) was the most common symptom. A significant proportion (93%) of these patients showed a marked immediate response to lorazepam, with 75% showing sustained improvement. Catatonic syndrome is common, often undiagnosed, and quickly responsive to treatment, irrespective of the diagnosis. It needs to be identified and actively treated with benzodiazepines to minimize distress, and facilitate diagnosis and treatment. Most patients also need additional treatment for the underlying psychiatric condition.

  8. Automated syndrome detection in a set of clinical facial photographs.

    Science.gov (United States)

    Boehringer, Stefan; Guenther, Manuel; Sinigerova, Stella; Wurtz, Rolf P; Horsthemke, Bernhard; Wieczorek, Dagmar

    2011-09-01

    Computer systems play an important role in clinical genetics and are a routine part of finding clinical diagnoses but make it difficult to fully exploit information derived from facial appearance. So far, automated syndrome diagnosis based on digital, facial photographs has been demonstrated under study conditions but has not been applied in clinical practice. We have therefore investigated how well statistical classifiers trained on study data comprising 202 individuals affected by one of 14 syndromes could classify a set of 91 patients for whom pictures were taken under regular, less controlled conditions in clinical practice. We found a classification accuracy of 21% percent in the clinical sample representing a ratio of 3.0 over a random choice. This contrasts with a 60% accuracy or 8.5 ratio in the training data. Producing average images in both groups from sets of pictures for each syndrome demonstrates that the groups exhibit large phenotypic differences explaining discrepancies in accuracy. A broadening of the data set is suggested in order to improve accuracy in clinical practice. In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set. Copyright © 2011 Wiley-Liss, Inc.

  9. Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) syndrome: England and Wales 2005-2012.

    Science.gov (United States)

    Springett, Anna L; Morris, Joan K

    2014-09-01

    Pregnancies with Edwards or Patau syndrome are often detected through screening for Down's syndrome. We aimed to evaluate the impact of screening for Down's syndrome on the prevalence of live births and antenatal diagnoses of Edwards and Patau syndrome. England and Wales, 2005 to 2012. Data from the National Down Syndrome Cytogenetic Register, which contains information on nearly all ante- or postnatally diagnosed cases of Edwards or Patau syndrome in which a karyotype was confirmed, were analysed. From 2005 to 2012, 3,941 diagnoses of Edwards syndrome and 1,567 diagnoses of Patau syndrome were recorded (prevalence of 7.0 and 2.8 per 10,000 births respectively). Only 11% (95% confidence interval [CI]: 10-12) of diagnoses of Edwards syndrome and 13% (95% CI: 11-14) of Patau syndrome were live births, resulting in live birth prevalences of 0.8 (95% CI: 0.7-0.8) and 0.4 (95% CI: 0.3-0.4) per 10,000 live births respectively. About 90% of pregnancies with Edwards or Patau syndrome were diagnosed antenatally, and this proportion remained constant over time. The proportion of diagnoses detected before 15 weeks increased from 50% in 2005 to 53% in 2012 for Edwards syndrome, and from 41% in 2005 to 63% in 2012 for Patau syndrome. Almost 700 women per year had a pregnancy with Edwards or Patau syndrome. Over 90% of these pregnancies were detected antenatally, with the increased use of first trimester screening for Down's syndrome resulting in the reduction in the mean gestational age at diagnosis of these syndromes. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  10. Field-Usable Lateral Flow Immunoassay for the Rapid Detection of White Spot Syndrome Virus (WSSV)

    OpenAIRE

    Kulabhusan, Prabir Kumar; Rajwade, Jyutika M.; Sugumar, Vimal; Taju, Gani; Sahul Hameed, A. S.; Paknikar, Kishore M.

    2017-01-01

    Background White spot disease (WSD), a major threat to sustainable aquaculture worldwide, is caused by White spot syndrome virus (WSSV). The diagnosis of WSD relies heavily on molecular detection of the virus by one-step PCR. These procedures are neither field-usable nor rapid enough considering the speed at which the virus spreads. Thus, development of a rapid, reliable and field-usable diagnostic method for the detection of WSSV infection is imperative to prevent huge economic losses. Metho...

  11. Polycystic ovary syndrome: early detection in the adolescent.

    Science.gov (United States)

    Jeffrey Chang, R; Coffler, Mickey S

    2007-03-01

    The primary clinical manifestations of polycystic ovary syndrome (PCOS) are hirsutism and irregular menstrual bleeding due to ovarian androgen excess and chronic anovulation. Historically, these features emerge late in puberty or shortly thereafter. The presence of insulin resistance or obesity, both commonly associated with this disorder, seems to further amplify the severity of the presentation. Perhaps, the most important finding is that of progressive hirsutism. Irregular menstrual bleeding is less reliable unless the duration of menstrual irregularity is persistent. However, mild hair growth and chronic anovulation are also regarded as normal components of the late stages of puberty and early adolescence and may persist for several years. It is for this reason that the diagnosis is often not made until later in life when endocrine and metabolic dysfunctions have been firmly established. The evolution of PCOS during early adolescence is not well-understood, but seems to involve abnormal activation of the hypothalamic-pituitary-ovarian-adrenal axis accompanied by specific morphologic changes of the ovary. Efforts to minimize the clinical features of PCOS in young adolescent girls depend on early diagnosis and timely suppression of excess ovarian androgen production.

  12. The eye as a window to rare endocrine disorders

    Science.gov (United States)

    Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

    2012-01-01

    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. PMID:22629495

  13. Surface-enhanced Raman scattering for the detection of polycystic ovary syndrome.

    Science.gov (United States)

    Momenpour, Ali; Lima, Patrícia D A; Chen, Yi-An; Tzeng, Chii-Ruey; Tsang, Benjamin K; Anis, Hanan

    2018-02-01

    Polycystic ovary syndrome (PCOS) is a multi-factorial heterogeneous syndrome that affects many women of reproductive age. This work demonstrates how the surface-enhanced Raman scattering (SERS) technique can be used to differentiate between PCOS and non-PCOS patients. We determine that the use of SERS, in conjunction with partial least squares (PLS) and principal component analysis (PCA), allows us to detect PCOS in patient samples. Although the role of chemerin in the pathogenesis of PCOS patients is not clear, this work enables us to measure their chemerin levels using the PLS regression method.

  14. Anthropometric markers for detection of the metabolic syndrome in adolescents.

    Science.gov (United States)

    Benmohammed, K; Valensi, P; Benlatreche, M; Nguyen, M T; Benmohammed, F; Pariès, J; Khensal, S; Benlatreche, C; Lezzar, A

    2015-04-01

    This study aimed to estimate, in a large group of Algerian adolescents, the prevalence of the metabolic syndrome (MetS), using four definitions (by Cook, De Ferranti, Viner and the IDF), and to test the validity of unique thresholds of waist circumference, waist/height ratio and BMI in screening for the MetS regardless of the definition used. A total of 1100 adolescent students, aged 12-18 y, were randomly selected from schools and classrooms in the city of Constantine; all had anthropometric measurements taken and 989 had blood tests. Prevalences of the MetS were: 2.6% for boys and 0.6% for girls by the Cook definition; 4.0% for boys and 2.0% for girls by the De Ferranti definition; 0.7% for boys and 0% for girls by the Viner definition; and 1.3% for boys and 0.5% for girls by the 2007 IDF definition. Prevalences ranged from 3.7% to 13.0% in obese adolescents. Unique thresholds, independent of gender, age and height, of 80cm for waist circumference, 0.50 for waist/height ratio and 25kg/m(2) for BMI had sensitivities of 72-100%, 67-100% and 72-100%, respectively, and specificities of 74-78%, 74-86% and 74-78%, respectively, depending on the MetS definition used. The MetS is present in Algerian adolescents and the prevalence is especially high in obese young people. Our thresholds for waist circumference, waist/height ratio and BMI for screening for the MetS should now be tested in other adolescent populations. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  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

    STUDY QUESTION: How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. SUMMARY ANSWER: The SCA detection rate resulting from DS screening was below 50...... of accompanying conditions. There is limited information about pre- and perinatal status that distinguishes SCA embryogenesis from normal fetal development. STUDY DESIGN, SIZE, DURATION: A register-based case-control study from the Danish Central Cytogenetic Register (DCCR), cross-linked with the Danish Fetal...

  16. Detection of CSF leak in spinal CSF leak syndrome using MR myelography: correlation with radioisotope cisternography.

    Science.gov (United States)

    Yoo, H-M; Kim, S J; Choi, C G; Lee, D H; Lee, J H; Suh, D C; Choi, J W; Jeong, K S; Chung, S J; Kim, J S; Yun, S-C

    2008-04-01

    Spinal CSF leak syndrome is a unique disorder caused by spinal CSF leak. In this study, we attempted to determine whether MR myelography (MRM) can detect the leakage site in the spine. We performed both MRM and radioisotope cisternography (RIC) in 15 patients with spinal CSF leak syndrome. Patients were included in this study if they had at least 2 of the following criteria: 1) orthostatic headache, 2) low CSF opening pressure, and 3) diffuse pachymeningeal enhancement on brain MR imaging. For comparison, we performed MRM in 15 subjects without symptoms of spinal CSF leak syndrome. MRM was performed with the 2D turbo spin-echo technique in the entire spine by using a 1.5T scanner. Two blinded radiologists evaluated the MRM findings in a total of 30 cases, composed of patient and control groups, with regard to the presence of leakage and the level of leakage if present. RIC was performed only in the patient group and was assessed by consensus among 3 physicians experienced in nuclear medicine. The diagnostic performance of MRM and RIC was evaluated on the basis of the clinical diagnosis of spinal CSF leak syndrome. The sensitivity, specificity, and accuracy of MR myelography for detecting CSF leak was 86.7%, 86.7%, and 86.7% for reader 1, respectively, and 80.0%, 93.3%, and 86.7% for reader 2, respectively. The sensitivity of RIC was 93.3%. Agreement between the 2 techniques for the detection of CSF leak was substantial in reader 1 and moderate in reader 2 (kappa = 0.634 and 0.444, respectively). MRM is an effective tool for detecting CSF leak in the spine in patients with spinal CSF leak syndrome.

  17. Use of lung ultrasound in detection of complications of respiratory distress syndrome.

    Science.gov (United States)

    Sawires, Happy K; Abdel Ghany, Eman A; Hussein, Nouran F; Seif, Hadeel M

    2015-09-01

    Repeated chest radiography is required for the diagnosis and follow-up of neonates with respiratory distress syndrome (RDS) and carries the risk of radiation hazards. Lung ultrasound (LUS) is a non-invasive bedside diagnostic tool that has proven to be effective in the diagnosis of RDS. Our aim was to assess the role of LUS with respect to the standard chest X-ray (CXR) in the detection of complications of RDS in neonates. Ninety premature newborns of both genders with RDS (mean gestational age = 29.91 ± 1.33 wk) and 40 premature babies as a control group were involved in this study. All patients underwent initial clinical assessment as well as CXR and LUS. Those who presented with respiratory distress and/or exhibited deterioration of oxygenation parameters were followed by CXR and, within 4 h, by LUS. Alveolo-interstitial syndrome and pleural line abnormalities were detected in all cases (100%) in the initial assessment, patchy consolidation was detected in 34 cases and white lung was detected in 80 cases. Alveolo-interstitial syndrome was detected in 19 controls. In follow-up of the patients, LUS was superior to CXR in detection of consolidation and sub-pleural atelectasis, but not in detection of pneumothorax. We concluded that bedside LUS is a good non-hazardous alternative tool in the early detection and follow-up of RDS in the neonatal intensive care unit; it could be of value in reducing exposure to unnecessary radiation. Copyright © 2015 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

  18. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.

    Science.gov (United States)

    Wapner, Ronald J; Babiarz, Joshua E; Levy, Brynn; Stosic, Melissa; Zimmermann, Bernhard; Sigurjonsson, Styrmir; Wayham, Nicholas; Ryan, Allison; Banjevic, Milena; Lacroute, Phil; Hu, Jing; Hall, Megan P; Demko, Zachary; Siddiqui, Asim; Rabinowitz, Matthew; Gross, Susan J; Hill, Matthew; Benn, Peter

    2015-03-01

    The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes. Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of the Next-generation Aneuploidy Test Using SNPs algorithm for the presence or absence of deletions of 22q11.2, 1p36, distal 5p, and the Prader-Willi/Angelman region. Detection rates were 97.8% for a 22q11.2 deletion (45/46) and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24). False-positive rates were 0.76% for 22q11.2 deletion syndrome (3/397) and 0.24% for cri-du-chat syndrome (1/419). No false positives occurred for Prader-Willi (0/428), Angelman (0/442), or 1p36 deletion syndromes (0/422). SNP-based noninvasive prenatal microdeletion screening is highly accurate. Because clinically relevant microdeletions and duplications occur in >1% of pregnancies, regardless of maternal age, noninvasive screening for the general pregnant population should be considered. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  19. Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

    Science.gov (United States)

    Ingham, Danielle; Diggle, Christine P; Berry, Ian; Bristow, Claire A; Hayward, Bruce E; Rahman, Nazneen; Markham, Alexander F; Sheridan, Eamonn G; Bonthron, David T; Carr, Ian M

    2013-06-01

    Heterozygous mutations in DNA mismatch repair (MMR) genes result in predisposition to colorectal cancer (hereditary nonpolyposis colorectal cancer or Lynch syndrome). Patients with biallelic mutations in these genes, however, present earlier, with constitutional mismatch repair deficiency cancer syndrome (CMMRD), which is characterized by a spectrum of rare childhood malignancies and café-au-lait skin patches. The hallmark of MMR deficiency, microsatellite instability (MSI), is readily detectable in tumor DNA in Lynch syndrome, but is also present in constitutional DNA of CMMRD patients. However, detection of constitutional or germline MSI (gMSI) has hitherto relied on technically difficult assays that are not routinely applicable for clinical diagnosis. Consequently, we have developed a simple high-throughput screening methodology to detect gMSI in CMMRD patients based on the presence of stutter peaks flanking a dinucleotide repeat allele when amplified from patient blood DNA samples. Using the three different microsatellite markers, the gMSI ratio was determined in a cohort of normal individuals and 10 CMMRD patients, with biallelic germline mutations in PMS2 (seven patients), MSH2 (one patient), or MSH6 (two patients). Subjects with either PMS2 or MSH2 mutations were easily identified; however, this measure was not altered in patients with CMMRD due to MSH6 mutation. © 2013 Wiley Periodicals, Inc.

  20. 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.

  1. 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

    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. 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. 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. 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.

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

    International Nuclear Information System (INIS)

    Kramer, E.L.; Sanger, J.J.

    1989-01-01

    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

  3. Cowden syndrome detected by FDG PET/CT in an endometrial cancer patient

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Yun Hee; Lee, Hye Kyung [Eulji University Hospital, Daejeon (Korea, Republic of); Park, Geon [Dept. of Radiology, The Catholic University of Korea, Daejeon Saint Mary' s Hospital, Daejeon (Korea, Republic of)

    2016-09-15

    Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues and cancers (breast, thyroid, and endometrium). We report CS of the esophagus and gastrointestinal tract that was incidentally detected by positron emission tomography/computed tomography (PET/CT) at postoperative surveillance in an endometrial cancer patient. PET/CT showed mildly increased FDG uptake along the entire esophagus and stomach. Upper GI endoscopy and histologic examination revealed glycogenic acanthosis of the esophagus and several hundred gastric polyps. In our case, increased FDG uptake of the esophageal wall contributed to the diagnosis of CS.

  4. 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

    Porcine reproductive and respiratory syndrome (PRRS) has for nearly 3 decades been economically one of the most important swine diseases. Despite intensive research focus, many unanswered questions remain regarding the pathogenesis of PRRSV. In situ hybridization (ISH) is generally considered....... 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...

  5. Obesity in Childhood and Adolescence, Genetic Factors.

    Science.gov (United States)

    Kostovski, Marko; Tasic, Velibor; Laban, Nevena; Polenakovic, Momir; Danilovski, Dragan; Gucev, Zoran

    2017-12-01

    Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome. A genetic screening for mutations in monogenic obesity in children with early, rapid-onset or severe obesity, severe hyperphagia, hypogonadism, intestinal dysfunction, hypopigmentation of hair and skin, postprandial hypoglycaemia, diabetes insipidus, abnormal leptin level and coexistence of lean and obese siblings in the family discovers many genetic forms of obesity. There are about 30 monogenic forms of obesity. In addition, obesity is different in ethnic groups, and the types of monogenic obesity differ. In brief, an increasing number of genes and genetic mechanisms in children continue to be discovered. This sheds new light on the molecular mechanisms of obesity and potentially gives a target for new forms of treatment.

  6. Enteroviral RNA sequences detected by polymerase chain reaction in muscle of patients with postviral fatigue syndrome.

    Science.gov (United States)

    Gow, J W; Behan, W M; Clements, G B; Woodall, C; Riding, M; Behan, P O

    1991-03-23

    To determine the presence of enteroviral sequences in muscle of patients with the postviral fatigue syndrome. Detection of sequences with the polymerase chain reaction in a well defined group of patients with the syndrome and controls over the same period. Institute of Neurological Sciences, Glasgow. 60 consecutive patients admitted to the institute with the postviral fatigue syndrome who had undergone extensive investigation to exclude other conditions. 41 controls from the same catchment area without evidence of fatigue, all undergoing routine surgery. Routine investigations, serological screen for antibodies to a range of viruses, and presence of enteroviral RNA sequences in muscle biopsy specimens. 15 (25%) patients and 10 (24.4%) controls had important serological findings. 12 patients had neutralising antibody titres of greater than or equal to 256 to coxsackieviruses B1-5 (six positive for enteroviral RNA sequences, six negative); three were positive for Epstein-Barr virus specific IgM (two positive, one negative). Six controls had similar neutralising antibody titres to coxsackieviruses (all negative); one was positive for Epstein-Barr virus specific IgM (negative); and three had titres of complement fixing antibody greater than or equal to 256 to cytomegalovirus (all negative). Overall, significantly more patients than controls had enteroviral RNA sequences in muscle (32/60, 53% v 6/41, 15%; odds ratio 6.7, 95% confidence interval 2.4 to 18.2). This was not correlated with duration of disease, patient and age, or to raised titres of antibodies to coxsackieviruses B1-5. Persistent enteroviral infection of muscle may occur in some patients with postviral fatigue syndrome and may have an aetiological role.

  7. Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

    Directory of Open Access Journals (Sweden)

    Ariel M Pani

    2010-08-01

    Full Text Available Intellectual disability (ID affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial percentage of ID diagnoses, although for approximately 50% the molecular etiology is unknown. Individuals with features suggestive of various syndromes but lacking their associated genetic anomalies pose a formidable clinical challenge. With the advent of microarray techniques, submicroscopic genome alterations not associated with known syndromes are emerging as a significant cause of ID and MCA.High-density SNP microarrays were used to determine genome wide copy number in 42 individuals: 7 with confirmed alterations in the WS region but atypical clinical phenotypes, 31 with ID and/or MCA, and 4 controls. One individual from the first group had the most telomeric gene in the WS critical region deleted along with 2 Mb of flanking sequence. A second person had the classic WS deletion and a rearrangement on chromosome 5p within the Cri du Chat syndrome (OMIM:123450 region. Six individuals from the ID/MCA group had large rearrangements (3 deletions, 3 duplications, one of whom had a large inversion associated with a deletion that was not detected by the SNP arrays.Combining SNP microarray analyses and qPCR allowed us to clone and sequence 21 deletion breakpoints in individuals with atypical deletions in the WS region and/or ID or MCA. Comparison of these breakpoints to databases of genomic variation revealed that 52% occurred in regions harboring structural variants in the general population. For two probands the genomic alterations were flanked by segmental duplications, which frequently mediate recurrent genome rearrangements; these may represent new genomic disorders. While SNP arrays and related technologies can identify potentially pathogenic deletions and duplications, obtaining sequence information

  8. Systematic Review of Metabolic Syndrome Biomarkers: A Panel for Early Detection, Management, and Risk Stratification in the West Virginian Population

    Science.gov (United States)

    Srikanthan, Krithika; Feyh, Andrew; Visweshwar, Haresh; Shapiro, Joseph I.; Sodhi, Komal

    2016-01-01

    Introduction: Metabolic syndrome represents a cluster of related metabolic abnormalities, including central obesity, hypertension, dyslipidemia, hyperglycemia, and insulin resistance, with central obesity and insulin resistance in particular recognized as causative factors. These metabolic derangements present significant risk factors for cardiovascular disease, which is commonly recognized as the primary clinical outcome, although other outcomes are possible. Metabolic syndrome is a progressive condition that encompasses a wide array of disorders with specific metabolic abnormalities presenting at different times. These abnormalities can be detected and monitored via serum biomarkers. This review will compile a list of promising biomarkers that are associated with metabolic syndrome and this panel can aid in early detection and management of metabolic syndrome in high risk populations, such as in West Virginia. Methods: A literature review was conducted using PubMed, Science Direct, and Google Scholar to search for markers related to metabolic syndrome. Biomarkers searched included adipokines (leptin, adiponectin), neuropeptides (ghrelin), pro-inflammatory cytokines (IL-6, TNF-α), anti-inflammatory cytokines (IL-10), markers of antioxidant status (OxLDL, PON-1, uric acid), and prothrombic factors (PAI-1). Results: According to the literature, the concentrations of pro-inflammatory cytokines (IL-6, TNF-α), markers of pro-oxidant status (OxLDL, uric acid), and prothrombic factors (PAI-1) were elevated in metabolic syndrome. Additionally, leptin concentrations were found to be elevated in metabolic syndrome as well, likely due to leptin resistance. In contrast, concentrations of anti-inflammatory cytokines (IL-10), ghrelin, adiponectin, and antioxidant factors (PON-1) were decreased in metabolic syndrome, and these decreases also correlated with specific disorders within the cluster. Conclusion: Based on the evidence presented within the literature, the

  9. Systematic Review of Metabolic Syndrome Biomarkers: A Panel for Early Detection, Management, and Risk Stratification in the West Virginian Population.

    Science.gov (United States)

    Srikanthan, Krithika; Feyh, Andrew; Visweshwar, Haresh; Shapiro, Joseph I; Sodhi, Komal

    2016-01-01

    Metabolic syndrome represents a cluster of related metabolic abnormalities, including central obesity, hypertension, dyslipidemia, hyperglycemia, and insulin resistance, with central obesity and insulin resistance in particular recognized as causative factors. These metabolic derangements present significant risk factors for cardiovascular disease, which is commonly recognized as the primary clinical outcome, although other outcomes are possible. Metabolic syndrome is a progressive condition that encompasses a wide array of disorders with specific metabolic abnormalities presenting at different times. These abnormalities can be detected and monitored via serum biomarkers. This review will compile a list of promising biomarkers that are associated with metabolic syndrome and this panel can aid in early detection and management of metabolic syndrome in high risk populations, such as in West Virginia. A literature review was conducted using PubMed, Science Direct, and Google Scholar to search for markers related to metabolic syndrome. Biomarkers searched included adipokines (leptin, adiponectin), neuropeptides (ghrelin), pro-inflammatory cytokines (IL-6, TNF-α), anti-inflammatory cytokines (IL-10), markers of antioxidant status (OxLDL, PON-1, uric acid), and prothrombic factors (PAI-1). According to the literature, the concentrations of pro-inflammatory cytokines (IL-6, TNF-α), markers of pro-oxidant status (OxLDL, uric acid), and prothrombic factors (PAI-1) were elevated in metabolic syndrome. Additionally, leptin concentrations were found to be elevated in metabolic syndrome as well, likely due to leptin resistance. In contrast, concentrations of anti-inflammatory cytokines (IL-10), ghrelin, adiponectin, and antioxidant factors (PON-1) were decreased in metabolic syndrome, and these decreases also correlated with specific disorders within the cluster. Based on the evidence presented within the literature, the aforementioned biomarkers correlate significantly with

  10. 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.   

  11. Effects of manipulations to detect sliding hiatal hernia in dogs with brachycephalic airway obstructive syndrome.

    Science.gov (United States)

    Broux, Olivier; Clercx, Cécile; Etienne, Anne-Laure; Busoni, Valeria; Claeys, Stéphanie; Hamaide, Annick; Billen, Frédéric

    2018-02-01

    To determine the influence of manipulations aimed at increasing the transdiaphragmatic pressure gradient on the gastro-esophageal junction (GEJ) of dogs with brachycephalic airway obstructive syndrome (BAOS), and to identify the manipulation that most improves the detection of GEJ abnormalities and sliding hiatal hernia (SHH) in dogs with BAOS. In vivo experimental pilot study and prospective clinical study. Five purpose-bred Beagles and 20 dogs diagnosed with BAOS. Respiratory and digestive clinical signs as well as respiratory and GEJ abnormalities were scored. The presence of SHH was investigated using radiography and endoscopy in standard conditions. Endoscopic investigation was repeated after manipulations including manual pressure on the cranial abdomen (MP), Trendelenburg position (30°), or temporary complete endotracheal tube obstruction (ETO). No SHH was detected in any normal dog under any condition. Sixty-five percent of dogs with BAOS presented with digestive clinical signs, including vomiting and/or regurgitation. SHH was observed in only one dog via radiography and was not detected via endoscopy. Manipulations during endoscopy influenced GEJ abnormalities and allowed the detection of SHH in 2 (30°), 4 (ETO), and 5 (MP) dogs, respectively. Digestive clinical signs correlated with GEJ abnormalities observed only in dogs with ETO (P = .02). Manipulations aimed at increasing the transdiaphragmatic pressure gradient during endoscopy in BAOS dogs allowed the detection of GEJ abnormalities and SHH that were not detected under standard conditions. Although MP allowed detection of SHH in more dogs than ETO, scores under MP did not correlate with digestive clinical signs. Therefore, ETO may be more accurate manipulation for the detection of GEJ abnormalities in BAOS dogs. © 2017 The American College of Veterinary Surgeons.

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

    Directory of Open Access Journals (Sweden)

    Jennifer J Palmer

    Full Text Available 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.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.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 programmes. The algorithms proposed here, though promising, should be

  13. 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.

  14. Adrenal gland abnormalities detected by magnetic resonance imaging in patients with antiphospholipid syndrome.

    Science.gov (United States)

    Shahin, A A; El Desouky, S M; Awadallah, M Y; Megahed, D E

    2017-03-01

    Adrenal infarction is a rare complication of antiphospholipid syndrome (APS). The purpose of the current study is to detect and study the magnetic resonance imaging (MRI) findings of adrenal glands in APS patients. In a cross-sectional study, the data of 20 patients with primary or secondary APS were compared to 20 SLE patients without antiphospholipid antibody (aPL) syndrome (controls). MRI of the abdomen showing the adrenal glands was performed. Of the patients, 80% were females with a mean age 32.45 ± 9.93 years, and mean disease duration of 46.65 ± 58.71 months. Adrenal gland abnormalities in the MRI study were detected in 35 % of APS patients vs. no abnormalities detected in the SLE controls. Adrenal gland enlargement was found in all patients (35 %). Capsular enhancement (infarction or hemorrhagic infarction) was found in 5 patients, increased stranding of the surrounding fat planes (inflammatory process) in 4 patients and increased signal on T1WI and T2WI (hemorrhage) in 3 patients. In patients with adrenal gland involvement, 71.4 % had triple aPL positivity compared to 23.1 % in patients with normal adrenal findings (p = 0.04). Adrenal gland abnormalities on MRI were detected in 35 % of the APS patients (whether primary or secondary); thus, increased focus on management is needed. This percentage is not small and needs to be focused on in terms of management.

  15. Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.

    Science.gov (United States)

    Tang, Zaiming; Lin, Mary Grace; Stowe, Timothy Richard; Chen, She; Zhu, Muyuan; Stearns, Tim; Franco, Brunella; Zhong, Qing

    2013-10-10

    The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis can lead to a group of genetic syndromes known as ciliopathies. However, the regulatory mechanisms of primary ciliogenesis in normal and cancer cells are incompletely understood. Here we demonstrate that autophagic degradation of a ciliopathy protein, OFD1 (oral-facial-digital syndrome 1), at centriolar satellites promotes primary cilium biogenesis. Autophagy is a catabolic pathway in which cytosol, damaged organelles and protein aggregates are engulfed in autophagosomes and delivered to lysosomes for destruction. We show that the population of OFD1 at the centriolar satellites is rapidly degraded by autophagy upon serum starvation. In autophagy-deficient Atg5 or Atg3 null mouse embryonic fibroblasts, OFD1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of BBS4 (Bardet-Biedl syndrome 4) to cilia. These defects are fully rescued by OFD1 partial knockdown that reduces the population of OFD1 at centriolar satellites. More strikingly, OFD1 depletion at centriolar satellites promotes cilia formation in both cycling cells and transformed breast cancer MCF7 cells that normally do not form cilia. This work reveals that removal of OFD1 by autophagy at centriolar satellites represents a general mechanism to promote ciliogenesis in mammalian cells. These findings define a newly recognized role of autophagy in organelle biogenesis.

  16. Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

    Science.gov (United States)

    Tóth, T; Bókay, J; Szönyi, L; Nagy, B; Papp, Z

    1998-03-01

    Pearson syndrome is a multisystem juvenile condition associated with deletions in the mitochondrial genome. The most common 4977 bp deletion of mitochondrial DNA (mtDNA) can mainly be detected in the patients' peripheral blood. Here we report a child with a clinically unclarified diagnosis where molecular genetic results proved Pearson syndrome from stored dried blood sample 6 months after the patient's death. PCR amplification around the breakpoint of the most common mtDNA deletion could detect the presence of mutated mtDNA. Another polymerase chain reaction (PCR) assay indicated the low level of wild type mtDNA in patients' blood. We believe that this case shows the importance of storing Guthrie card and the availability of detection of Pearson syndrome from dried blood sample.

  17. 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.

  18. Field-Usable Lateral Flow Immunoassay for the Rapid Detection of White Spot Syndrome Virus (WSSV).

    Science.gov (United States)

    Kulabhusan, Prabir Kumar; Rajwade, Jyutika M; Sugumar, Vimal; Taju, Gani; Sahul Hameed, A S; Paknikar, Kishore M

    2017-01-01

    White spot disease (WSD), a major threat to sustainable aquaculture worldwide, is caused by White spot syndrome virus (WSSV). The diagnosis of WSD relies heavily on molecular detection of the virus by one-step PCR. These procedures are neither field-usable nor rapid enough considering the speed at which the virus spreads. Thus, development of a rapid, reliable and field-usable diagnostic method for the detection of WSSV infection is imperative to prevent huge economic losses. Here, we report on the development of a lateral flow immunoassay (LFIA) employing gold nanoparticles conjugated to a polyclonal antibody against VP28 (envelope protein of WSSV). The LFIA detected WSSV in ~20 min and showed no cross-reactivity with other shrimp viruses, viz. Monodon Baculovirus (MBV), Hepatopancreatic parvovirus (HPV) and Infectious Hypodermal and Hematopoietic Necrosis virus (IHHNV). The limit of detection (LOD) of the assay, as determined by real-time PCR, was 103 copies of WSSV. In a time course infectivity experiment, ~104 WSSV particles were injected in Litopenaeus vannamei. The LFIA could rapidly (~ 20 min) detect the virus in different tissues after 3 h (hemolymph), 6 h (gill tissue) and 12 h (head soft tissue, eye stalk, and pleopod) of infection. Based on these findings, a validation study was performed using 75 field samples collected from different geographical locations in India. The LFIA results obtained were compared with the conventional "gold standard test", viz. one-step PCR. The analysis of results in 2x2 matrix indicated very high sensitivity (100%) and specificity (96.77%) of LFIA. Similarly, Cohen's kappa coefficient of 0.983 suggested "very good agreement" between the developed LFIA and the conventional one-step PCR. The LFIA developed for the rapid detection of WSSV has an excellent potential for use in the field and could prove to be a boon to the aquaculture industry.

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

    Directory of Open Access Journals (Sweden)

    Jonathan B. Shute

    2016-01-01

    Full Text Available 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 well as modulations in beta rhythms over the motor cortex. Tics were divided into three categories: long complex, complex, and simple. Long complex tics, tics involving multiple body regions and lasting longer than 5 s, were concurrent with a highly detectable thalamocortical signature (average recall [sensitivity] 88.6%, average precision 96.3%. Complex tics were detected with an average recall of 63.9% and precision of 36.6% and simple tics an average recall of 39.3% and precision of 37.9%. The detections were determined using data from both patients.

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

    International Nuclear Information System (INIS)

    Ohana, Mickael; Durand, Marie-Christine; Marty, Catherine; Lazareth, Jean-Philippe; Maisonobe, Thierry; Mompoint, Dominique; Carlier, Robert-Yves

    2014-01-01

    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.)

  1. 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.)

  2. 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.)

  3. 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.

  4. [How to detect myocardial ischemia in patients following acute coronary syndrome treated by PCI?

    Science.gov (United States)

    Amabile, Nicolas; Malergue, Marie Christine; Achkouty, Guy; Czitrom, Daniel; Caussin, Christophe

    Unstable coronary artery disease is a more aggressive condition than stable coronary artery disease, accounting for the high incidence of major adverse cardiovascular events following acute coronary syndromes (ACS), which includes the need for iterative repeat revascularization. The aim of myocardial ischemia screening in post-ACS patients is to detect this unfavourable evolution (either on initial culprit or non culprit lesions) and to prevent any clinical complication. Although there is no strict recommendation in this particular situation, screening should be based on the use of stress imaging techniques. The optimal timing and frequency for testing will depend on the clinical characteristics of the patients and the coronary revascularization procedure features. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  5. Detection of virus in connection with "European brown hare syndrome" in Hesse, F.R.G.

    Science.gov (United States)

    Biermann, U; Krauss, H

    1991-02-01

    Materials from the liver of a wild-living hare (Lepus europeus pallas) which had died from "European Brown Hare Syndrome" (EBHS) and of two hares kept in captivity which had been experimentally infected with the same material and died after two days with the classical signs of EBHS (Eskens and Volmer, 1989) were investigated for the presence of virus particles by electron microscopy using the negative contrast technique. Virus particles of 32 nm in diameter were found in all three samples investigated. The same particles were detected in the filtered inoculum used for experimental infection and in the supernatant of the first three passages of feline embryonic cell cultures. Haemagglutination or haemadsorption could not be achieved with the material investigated.

  6. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients

    Energy Technology Data Exchange (ETDEWEB)

    Lowery, M.C.; Brothman, L.J.; Leonard, C.O. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)] [and others

    1995-07-01

    Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable by FISH. Hemizygosity is likely the cause of vascular abnormalities in WS patients. A series of 235 patients was studied, and molecular cytogenetic deletions were seen in 96% of patients with classic WS. Patients included 195 solicited through the Williams Syndrome Association (WSA), plus 40 clinical cytogenetics cases referred by primary-care physicians. Photographs and medical records of most WSA subjects were reviewed, and patients were identified as {open_quotes}classic{open_quotes} (n = 114) or{open_quotes}uncertain{close_quotes} (n = 39). An additional 42 WSA patients were evaluated without clinical information. FISH was performed with biotinylated ELN cosmids on metaphase cells from immortalized lymphoblastoid lines from WSA patients and after high-resolution banding analysis on clinical referral patients. An alpha-satellite probe for chromosome 7 was included in hybridizations, as an internal control. Ninety-six percent of the patients with classic WS showed a deletion in one ELN allele; four of these did not show a deletion. Of the uncertain WS patients, only 3 of 39 showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. Thirty-eight percent (15/40) of clinical cytogenetics cases showed an ELN deletion and no cytogenetic deletion by banded analysis. These results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WS. 14 refs., 2 figs., 4 tabs.

  7. Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases

    NARCIS (Netherlands)

    Laan, L. A.; Halley, D. J.; den Boer, A. T.; Hennekam, R. C.; Renier, W. O.; Brouwer, O. F.

    1998-01-01

    The clinical findings in 12 Angelman syndrome (AS) patients (4 sib pairs and 4 sporadic cases, aged 12-55 years) without a cytogenetic or molecular detectable defect at the AS locus were compared to those of 28 AS patients (aged 11-50 years) with a deletion, in order to determine whether the

  8. The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome

    NARCIS (Netherlands)

    Helder-Woolderink, J. M.; De Bock, G. H.; Sijmons, R. H.; Hollema, H.; Mourits, M. J. E.

    2013-01-01

    Objective. Based on previous studies, standard gynecological screening consisting of annual transvaginal ultrasonography (TVU) was added with endometrial sampling in women with Lynch syndrome (LS). The aim of this study was to evaluate the additional value of endometrial sampling in detecting

  9. Detection of Brazilian hantavirus by reverse transcription polymerase chain reaction amplification of N gene in patients with hantavirus cardiopulmonary syndrome

    OpenAIRE

    Marcos Lázaro Moreli; Ricardo Luiz Moro de Sousa; Luiz Tadeu Moraes Figueiredo

    2004-01-01

    We report a nested reverse transcription-polymerase chain reaction (RT-PCR) assay for hantavirus using primers selected to match high homology regions of hantavirus genomes detected from the whole blood of hantavirus cardiopulmonary syndrome (HCPS) patients from Brazil, also including the N gene nucleotide sequence of Araraquara virus. Hantavirus genomes were detected in eight out of nine blood samples from the HCPS patients by RT-PCR (88.9% positivity) and in all 9 blood samples (100% positi...

  10. 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.

  11. Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.

    Science.gov (United States)

    Mancini-DiNardo, Debora; Judkins, Thaddeus; Woolstenhulme, Nick; Burton, Collin; Schoenberger, Jeremy; Ryder, Matthew; Murray, Adam; Gutin, Natalia; Theisen, Aaron; Holladay, Jayson; Craft, Jonathan; Arnell, Christopher; Moyes, Kelsey; Roa, Benjamin

    2014-09-11

    Conventional Sanger sequencing reliably detects the majority of genetic mutations associated with hereditary cancers, such as single-base changes and small insertions or deletions. However, detection of genomic rearrangements, such as large deletions and duplications, requires special technologies. Microarray analysis has been successfully used to detect large rearrangements (LRs) in genetic disorders. We designed and validated a high-density oligonucleotide microarray for the detection of gene-level genomic rearrangements associated with hereditary breast and ovarian cancer (HBOC), Lynch, and polyposis syndromes. The microarray consisted of probes corresponding to the exons and flanking introns of BRCA1 and BRCA2 (≈1,700) and Lynch syndrome/polyposis genes MLH1, MSH2, MSH6, APC, MUTYH, and EPCAM (≈2,200). We validated the microarray with 990 samples previously tested for LR status in BRCA1, BRCA2, MLH1, MSH2, MSH6, APC, MUTYH, or EPCAM. Microarray results were 100% concordant with previous results in the validation studies. Subsequently, clinical microarray analysis was performed on samples from patients with a high likelihood of HBOC mutations (13,124), Lynch syndrome mutations (18,498), and polyposis syndrome mutations (2,739) to determine the proportion of LRs. Our results demonstrate that LRs constitute a substantial proportion of genetic mutations found in patients referred for hereditary cancer genetic testing. The use of microarray comparative genomic hybridization (CGH) for the detection of LRs is well-suited as an adjunct technology for both single syndrome (by Sanger sequencing analysis) and extended gene panel testing by next generation sequencing analysis. Genetic testing strategies using microarray analysis will help identify additional patients carrying LRs, who are predisposed to various hereditary cancers.

  12. Detecting cardiometabolic syndrome using World Health Organization public health action points for Asians and Pacific Islanders.

    Science.gov (United States)

    Grandinetti, Andrew; Kaholokula, Joseph K; Mau, Marjorie K; Chow, Dominic C

    2010-01-01

    To assess the screening characteristics of World Health Organization (WHO) body mass index action points for cardiometabolic syndrome (CMS) in Native Hawaiians and people of Asian ancestry (ie, Filipino and Japanese). Cross-sectional data were collected from 1,452 residents of a rural community of Hawai'i between 1997 and 2000, of which 1,198 were analyzed in this study. Ethnic ancestry was determined by self-report. Metabolic status was assessed using National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATPIII) criteria. Screening characteristics of WHO criteria for overweight and obesity were compared to WHO public health action points or to WHO West Pacific Regional Office (WPRO) cut-points. Among Asian-ancestry participants, WHO public health action points improved both sensitivity and specificity for detecting CMS. However, similar improvements were not observed for WPRO criteria for Native Hawaiians. Moreover, predictive values were high regardless of which criteria were utilized due to high CMS prevalence. WHO public health actions points for Asians provide a significant improvement in sensitivity in detection of CMS. However, predictive value, which varies greatly with disease prevalence, should be considered when deciding which criteria to apply.

  13. [Acute vestibular syndrome : Clinical examination outperforms MRI in the detection of central lesions].

    Science.gov (United States)

    Thömke, F

    2017-12-12

    A significant number of patients who seek medical treatment in an emergency department because of vertigo or dizziness, suffer from acute vestibular syndrome. This is characterized by sustained vertigo, horizontal or horizontal rotatory jerk nystagmus, and unsteady stance and gait. In the acute situation it is crucial to differentiate patients with a peripheral vestibular disorder from those with a central disease. A number of recent studies have shown that a structured clinical examination enables a reliable differential diagnosis of central or peripheral disorders. Such an examination includes the head impulse test, an alternating cover test to detect a skew deviation of the eyes, and observation of nystagmus in different positions of gaze and using Frenzel goggles. This examination is more sensitive for the detection of brainstem stroke than magnetic resonance imaging (MRI), at least within 48 h after symptom onset. As these facts are still little known, in practice there is an overuse of cost-intensive imaging with computed tomography and MRI, and a number of patient brainstem strokes in the vertebrobasilar circulation may be missed. This paper describes the relevant studies on this topic.

  14. [Detection of oral fungal flora in patients with primary Sjogren's syndrome by real-time PCR].

    Science.gov (United States)

    Ding, Ning; Yan, Zhi-min; Hua, Hong

    2013-02-18

    To compare the quantity of the main important Candida species in the oral cavity between the patients with primary Sjogren's syndrome (pSS) and no dry mouth healthy controls,and to explore the discriminative species of fungi between the two groups. In this study, 25 pSS patients from Department of Oral Medicine of Peking University School and Hospital of Stomatology were enrolled, with 25 residents from a community in Beijing as the control group. All the participants were examined for the oral mucosa status, and 5 Candida DNA loads were compared between the two groups by use of the FQ-PCR technique. Candida albicans was the dominant Candida in both of the groups. In addition, we found that the species of Candida tropicalis and Parapsilosis were more detected in the pSS group by use of the FQ-PCR technique. Quantitative of Candida tropicalis and Candida parapsilosis in pSS group (10.6 ± 1.07, 9.47 ± 4.86) was significantly higher than that in healthy controls group (8.30 ± 3.82, 5.24 ± 6.05), the difference was statistically significant (P Candida albicans was the dominant Candida in both of the groups. Candida tropicalis and Candida parapsilosis were more detected in the pSS group.

  15. Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood.

    Science.gov (United States)

    König, Jens Christian; Titieni, Andrea; Konrad, Martin

    2018-01-01

    Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype-phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing "revolution" in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST) is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

  16. 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.

  17. 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.

  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. Diabetic ketoacidosis associated with tacrolimus in solid organ transplant recipients

    International Nuclear Information System (INIS)

    Maqsood, M.Q.; Rabbani, M.; Habib, M.; Saleem, T.

    2011-01-01

    Diabetic ketoacidosis in patients receiving tacrolimus in the post-transplant setting is rare. We describe two such cases in solid-organ transplant recipients. The first patient, a 17-year-old male, presented with severe diabetic ketoacidosis and was managed with intravenous fluids and insulin infusion. He was a known case of Laurence-Moon-Bardet-Biedl syndrome and had received a renal transplant 2 years ago and was receiving tacrolimus since then. Although diabetic ketoacidosis resolved in 24 hours, large doses of subcutaneous insulin (unto 130 units per day) were needed to keep serum glucose within the normal range. Substitution of tacrolimus with cyclosporine obviated the need for insulin or oral hypoglycaemics. The second patient, a 55-year-old woman, presented with a history of polyuria for 3 days. She had received a hepatic transplant 2 years ago and tacrolimus was being used since then. Mild diabetic ketoacidosis was managed with fluid resuscitation and subcutaneous insulin. Her insulin requirement after an uneventful recovery has been 54 - 70 units per day. Clinicians should be cognizant of the possibility of hyperglycaemic crisis presenting as sudden onset of diabetic ketoacidosis in patients receiving tacrolimus. Use of an alternative calcineurin inhibitor may provide a safer solution to minimize future morbidity in such patients. (author)

  20. 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.

  1. Leaf and Canopy Level Detection of Fusarium Virguliforme (Sudden Death Syndrome in Soybean

    Directory of Open Access Journals (Sweden)

    Ittai Herrmann

    2018-03-01

    Full Text Available Pre-visual detection of crop disease is critical for food security. Field-based spectroscopic remote sensing offers a method to enable timely detection, but still requires appropriate instrumentation and testing. Soybean plants were spectrally measured throughout a growing season to assess the capacity of leaf and canopy level spectral measurements to detect non-visual foliage symptoms induced by Fusarium virguliforme (Fv, which causes sudden death syndrome. Canopy reflectance measurements were made using the Piccolo Doppio dual field-of-view, two-spectrometer (400 to 1630 nm system on a tractor. Leaf level measurements were obtained, in different plots, using a handheld spectrometer (400 to 2500 nm. Partial least squares discriminant analysis (PLSDA was applied to the spectroscopic data to discriminate between Fv-inoculated and control plants. Canopy and leaf spectral data allowed identification of Fv infection, prior to visual symptoms, with classification accuracy of 88% and 91% for calibration, 79% and 87% for cross-validation, and 82% and 92% for validation, respectively. Differences in wavelengths important to prediction by canopy vs. leaf data confirm that there are different bases for accurate predictions among methods. Partial least square regression (PLSR was used on a late-stage canopy level data to predict soybean seed yield, with calibration, cross-validation and validation R2 values 0.71, 0.59 and 0.62 (p < 0.01, respectively, and validation root mean square error of 0.31 t·ha−1. Spectral data from the tractor mounted system are thus sensitive to the expression of Fv root infection at canopy scale prior to canopy symptoms, suggesting such systems may be effective for precision agricultural research and management.

  2. 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.

  3. 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

  4. Electroencephalogram (EEG) duration needed to detect abnormalities in angelman syndrome: is 1 hour of overnight recording sufficient?

    Science.gov (United States)

    Robinson, Althea A; Goldman, Suzanne; Barnes, Gregory; Goodpaster, Luke; Malow, Beth A

    2015-01-01

    Approximately, 90% of patients with Angelman syndrome present with epileptic seizures. Obtaining an electroencephalogram (EEG) with sleep improves the chances of detecting ictal, interictal, and benign abnormal rhythms in Angelman syndrome. However, electroencephalograms, even when obtained during sleep, can be challenging in this population because of tactile sensitivities as well as anxiety related to a novel environment. We tested the hypothesis that 1 hour of sleep on an electroencephalogram would provide as much information as an entire night of electroencephalogram recording, yet more than a routine electroencephalogram conducted during the day. Overnight polysomnograms were collected in 14 children with Angelman syndrome seen at Vanderbilt University. All patients who obtained sleep within the first hour of the overnight electroencephalogram had interictal discharges recorded. Our results show that when sleep is obtained, a 1-hour electroencephalogram yields just as much information as recording an entire night. © The Author(s) 2014.

  5. Detection of dendritic cells and related cytokines in follicular fluid of patients with polycystic ovary syndrome.

    Science.gov (United States)

    Zhang, Tao; Tian, Fuying; Huo, Ran; Tang, Aifa; Zeng, Yong; Duan, Yong-Gang

    2017-09-01

    The presence of dendritic cells (DCs) and associated cytokines in follicular fluid (FF) from patients with polycystic ovary syndrome (PCOS) remains unknown. FF was collected from PCOS patients and patients with severe male factor infertility (control) at the day of transvaginal oocyte retrieval. Phenotypes of DC were detected by flow cytometry, and TNF-α, IL-6, IL-10, and IL-23 were assessed by ELISA. A significant decrease in the percentage of DC was found in patients with PCOS (16.22±5.5%) compared with control (21.27±5.5%, P<.01). E 2 on the day of hCG administration was correlated positively with the mean fluorescence intensity of HLA-DR (r=.75, P<.01) and reversely correlated with the concentration of TNF-α in FF (r=-.69, P<.01). The level of TNF-α, IL-6, and IL-10 increased significantly but IL-23 decreased in FF from patients with PCOS. The decrease of DC and disturbance of associated cytokines in FF from PCOS patients indicates a disorder of immunological microenvironment of the ovarian follicle, which might be involved in the dysfunction of folliculogenesis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. 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.

  7. Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

    Science.gov (United States)

    Park, Hye Jung; Park, Chul Hwan; Lee, Sang Eun; Lee, Geun Dong; Byun, Min Kwang; Lee, Sungsoo; Lee, Kyung-A; Kim, Tae Hoon; Kim, Seong Han; Yang, Seo Yeon; Kim, Hyung Jung; Ahn, Chul Min

    2017-01-01

    Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea. We prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016. Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. We analyzed the characteristics of the patients confirmed to have BHD and those for a further 6 patients who had previously been described in Korea. Six (0.06%) of the 10,883 patients reviewed were diagnosed with BHD. There was no difference in demographic or clinical features between the patients with BHD (n = 6) and those without BHD (n = 11). Pneumothorax was present in 50% of the patients with BHD but typical skin and renal lesions were absent. The maximum size of the cysts in the BHD group (median 39.4 mm; interquartile range [IQR] 11.4 mm) was significantly larger than that in the non-BHD group (median 15.8 mm; IQR 7.8 mm; P = 0.001). Variable morphology was seen in 100.0% of the cysts in the BHD group but in only 18.2% of the cysts in the non-BHD group (P = 0.002). Nine (95%) of the total of 12 Korean patients with BHD had experienced pneumothorax. Typical skin and renal lesions were present in 20.0% of patients with BHD. Our findings suggest that BHD can be detected if chest CT scans are read in detail.

  8. 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.

  9. Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

    Directory of Open Access Journals (Sweden)

    Hye Jung Park

    Full Text Available Birt-Hogg-Dube syndrome (BHD is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT scans and to evaluate further the characteristics of BHD in Korea.We prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016. Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. We analyzed the characteristics of the patients confirmed to have BHD and those for a further 6 patients who had previously been described in Korea.Six (0.06% of the 10,883 patients reviewed were diagnosed with BHD. There was no difference in demographic or clinical features between the patients with BHD (n = 6 and those without BHD (n = 11. Pneumothorax was present in 50% of the patients with BHD but typical skin and renal lesions were absent. The maximum size of the cysts in the BHD group (median 39.4 mm; interquartile range [IQR] 11.4 mm was significantly larger than that in the non-BHD group (median 15.8 mm; IQR 7.8 mm; P = 0.001. Variable morphology was seen in 100.0% of the cysts in the BHD group but in only 18.2% of the cysts in the non-BHD group (P = 0.002. Nine (95% of the total of 12 Korean patients with BHD had experienced pneumothorax. Typical skin and renal lesions were present in 20.0% of patients with BHD.Our findings suggest that BHD can be detected if chest CT scans are read in detail.

  10. 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 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.

  11. Optical Coherence Tomography Analysis of Attenuated Plaques Detected by Intravascular Ultrasound in Patients with Acute Coronary Syndromes

    Directory of Open Access Journals (Sweden)

    Takashi Kubo

    2011-01-01

    Full Text Available Background. Recent intravascular ultrasound (IVUS studies have demonstrated that hypoechoic plaque with deep ultrasound attenuation despite absence of bright calcium is common in acute coronary syndrome. Such “attenuated plaque” may be an IVUS characteristic of unstable lesion. Methods. We used optical coherence tomography (OCT in 104 patients with unstable angina to compare lesion characteristics between IVUS-detected attenuated plaque and nonattenuated plaque. Results. IVUS-detected attenuated plaque was observed in 41 (39% patients. OCT-detected lipidic plaque (88% versus 49%, <0.001, thin-cap fibroatheroma (48% versus 16%, <0.001, plaque rupture (44% versus 11%, <0.001, and intracoronary thrombus (54% versus 17%, <0.001 were more often seen in IVUS-detected attenuated plaques compared with nonattenuated plaques. Conclusions. IVUS-detected attenuated plaque has many characteristics of unstable coronary lesion. The presence of attended plaque might be an important marker of lesion instability.

  12. Diagnostic Strategies for Early Lynch Syndrome Detection: From Molecular Testing to Economic Evaluation

    NARCIS (Netherlands)

    C.H.M. Leenen (Celine)

    2015-01-01

    markdownabstract__Abstract__ Lynch syndrome (LS) is an autosomal dominant inherited syndrome that predisposes to multiple malignancies, in particular colorectal cancer (CRC) and endometrial cancer (EC). The lifetime risk of developing CRC for a LS mutation carrier is 25 to 70%, while women

  13. 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…

  14. Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study.

    Science.gov (United States)

    Zhang, Qiang; Guo, Xiaohong; Tian, Tian; Wang, Teng; Li, Qiaoli; Wang, Lei; Liu, Yun; Xing, Qinghe; He, Lin; Zhao, Xinzhi

    2017-05-01

    Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay. X chromosome dosage was calculated according to the methylation level of multiple XIDMSs. Overall, 108 candidate XIDMSs were screened by the 450k array. Validations indicated that XIDMSs gathered and formed the X-chromosome inactivation specific differentially methylated regions (XIDMRs). Using 3 XIDMRs at SAT1, UXT and UTP14A loci, 36 TS, 22 normal female and 6 male samples were analyzed. Methylation levels of the 20 XIDMSs in the XIDMRs could distinguish between TS and normal female DNA samples, the X chromosome dosage was consistent with karyotyping data. Analyzing samples of 2 triple X syndrome and 3 Klinefelter syndrome patients suggested that this method could be used to detect X chromosome aneuploids other than TS. XIDMSs are widely spread along the X chromosome and might be effective markers for detection of TS and other X chromosome aneuploids. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. 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. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. 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.

  17. Evaluation of oral sugar test response for detection of equine metabolic syndrome in obese Crioulo horses.

    Science.gov (United States)

    Cantarelli, C; Dau, S L; Stefanello, S; Azevedo, M S; De Bastiani, G R; Palma, H E; Brass, K E; De La Côrte, F D

    2018-04-01

    Owing to the high prevalence of obesity in Crioulo horses, information allowing early diagnosis of equine metabolic syndrome (EMS) and prevention of the associated laminitis is of great value. The aim of this study was to evaluate the occurrence of EMS and the response to an oral sugar test (OST) in obese Crioulo horses. Twenty-two Crioulo horses were allocated into 3 groups according to their body condition score (BCS out of 9) and presence or absence of laminitis as follows: CON (6/22), BCS laminitis. A complete clinical history was obtained, followed by a physical examination, morphometric measurements, radiographic evaluation of front feet, and ultrasonography measurements of subcutaneous body fat. For the OST, animals were fasted overnight, and blood samples were collected for glucose and insulin concentration before and after sugar administration. Morphometric and metabolic differences (P < 0.05) were observed between CON animals and obese ones, with horses from the LAM group presenting the highest morphometric measurements and insulin plasma concentrations. A delayed peak glucose response for OST was observed in the majority of obese animals, indicating that sampling between 60 and 90 min after sugar administration without glycemic curve follow-up, as previously used for hyperinsulinism detection, can be inadequate. The observed delay in the return to glucose baseline levels, combined with high insulin levels, supports the diagnosis of insulin dysregulation. These results indicate that there are clear obesity-related differences in the glucose and insulin responses of Crioulo horses to an OST. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Colonic dysmotility and morphological abnormality frequently detected in Japanese patients with irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    Takeshi Mizukami

    2017-04-01

    Full Text Available Background/Aims: Colonoscopy and computed tomography (CT are used primarily to exclude organic diseases in patients with irritable bowel syndrome (IBS, rather than to assess the pathophysiology of IBS. We aimed to evaluate colonic dysmotility and morphology in Japanese patients with IBS.Methods: One hundred eighty-four patients with IBS and 49 asymptomatic controls who underwent colonoscopy in combination with CT colonography or barium enema were retrospectively reviewed between 2008 and 2012. Water-aided colonoscopy was performed without sedation by a single endoscopist. The duration and pattern of colonic movement and cecal intubation time were recorded. To assess colonic morphology, barium enema or CT colonography were performed immediately after colonoscopy.Results: Colonic dysmotility was more frequent in the IBS group (28.8% vs. 2.0% in controls, P<0.001, especially in cases of IBS with diarrhea (IBS-D (IBS with constipation [IBS-C] 28.8% vs. IBS-D 60.0% vs. mixed IBS [IBS-M] 5.1%, P<0.001. Colonic morphological abnormality was more frequent in the IBS group than in the control group (77.7% vs. 24.5%, P<0.001, especially in IBS-M and IBS-C groups (IBS-C 77.5% vs. IBS-D 48.9% vs. IBS-M 100%, P<0.001. Most patients with IBS with colonic dysmotility had experienced stress related to their symptoms. Cecal intubation time was significantly longer in the IBS group than in the control group (12.1±6.9 minutes vs. 4.6±1.9 minutes, P<0.001.Conclusions: Unsedated colonoscopy, combined with radiographic findings, can detect colonic dysmotility and morphological abnormality. Technical difficulties observed during cecal intubation may partially explain the pathophysiology of IBS.

  19. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

    Science.gov (United States)

    Lovric, Svjetlana; Fang, Humphrey; Vega-Warner, Virginia; Sadowski, Carolin E; Gee, Heon Yung; Halbritter, Jan; Ashraf, Shazia; Saisawat, Pawaree; Soliman, Neveen A; Kari, Jameela A; Otto, Edgar A; Hildebrandt, Friedhelm

    2014-06-06

    In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based microfluidic technology that allows rapid simultaneous mutation analysis of 21 single-gene causes of SRNS in a large number of individuals. This study screened individuals with SRNS; samples were submitted for mutation analysis from international sources between 1996 and 2012. For proof of principle, a pilot cohort of 48 individuals who harbored known mutations in known SRNS genes was evaluated. After improvements to the method, 48 individuals with an unknown cause of SRNS were then examined in a subsequent diagnostic study. The analysis included 16 recessive SRNS genes and 5 dominant SRNS genes. A 10-fold primer multiplexing was applied, allowing PCR-based amplification of 474 amplicons in 21 genes for 48 DNA samples simultaneously. Forty-eight individuals were indexed in a barcode PCR, and high-throughput sequencing was performed. All disease-causing variants were confirmed via Sanger sequencing. The pilot study identified the genetic cause of disease in 42 of 48 (87.5%) of the affected individuals. The diagnostic study detected the genetic cause of disease in 16 of 48 (33%) of the affected individuals with a previously unknown cause of SRNS. Seven novel disease-causing mutations in PLCE1 (n=5), NPHS1 (n=1), and LAMB2 (n=1) were identified in childhood-onset SRNS cases. Copyright © 2014 by the American Society of Nephrology.

  20. Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.

    Science.gov (United States)

    Kleinle, S; Wiesmann, U; Superti-Furga, A; Krähenbühl, S; Boltshauser, E; Reichen, J; Liechti-Gallati, S

    1997-10-01

    We used a strategy based on long PCR (polymerase chain reaction) for detection and characterization of mitochondrial DNA (mtDNA) rearrangements in two patients with clinical signs suggesting Pearson syndrome and Kearns-Sayre syndrome (KSS), respectively, and one patient with myopathic symptoms of unidentified origin. Mitochondrial DNA rearrangements were detected by amplification of the complete mitochondrial genome (16.6 kb) using long PCR with primers located in essential regions of the mitochondrial genome and quantified by three-primer PCR. Long PCR with deletion-specific primers was used for identification and quantitative estimation of the different forms of rearranged molecules, such as deletions and duplications. We detected significant amounts of a common 7.4-kb deletion flanked by a 12-bp direct repeat in all tissues tested from the patient with Pearson syndrome. In skeletal muscle from the patient with clinical signs of KSS we found significant amounts of a novel 3.7-kb rearrangement flanked by a 4-bp inverted repeat that was present in the form of deletions as well as duplications. In the patient suffering from myopathic symptoms of unidentified origin we did not detect rearranged mtDNA in blood but found low levels of two rearranged mtDNA populations in skeletal muscle, a previously described 7-kb deletion flanked by a 7-bp direct repeat and a novel 6.6-kb deletion with no repeat. These two populations, however, were unlikely to be the cause of the myopathic symptoms as they were present at low levels (10-40 ppm). Using a strategy based on screening with long PCR we were able to detect and characterize high as well as low levels of mtDNA rearrangements in three patients.

  1. TEI INDEX MIGHT BE THE UNIQUE ECHOCARDIOGRAPHIC PARAMETER THAT DETECTS HYPERVISCOSITY SYNDROME: ACASE REPORT

    Directory of Open Access Journals (Sweden)

    Boban Marko

    2013-12-01

    Full Text Available Abstract: Hyperviscosity syndromes are disorders of infrequent prevalence in which changes of rheological characteristics cause increased resistance to blood flow, endothelial dysfunction, tissue ischemia and bleeding. Signs of hyperviscosity syndrome become clinically overt at the point of 4 centipoise units. We present a case of patient with hyperviscosity syndrome due to Waldenstrom’s macroglobulinemia with negative records on earlier cardiovascular illnesses. Laboratory diagnostic and standard echocardiography did not show any deviation towards increased cardiovascular risk, heart failure or ischemic heart disease. However, unique clinically significant change that could be indirectly related to hyperviscosity syndrome was found with the myocardium performance index (MPI. Tei-index showed median value of 0.75 corresponding to severe grades of myocardial dysfunction earlier described in the literature for other entities. Comprehensive roles of rheological changes in relation to echocardiography, pathophysiology of myocardial performance and cardiovascular continuum might be interesting point for further investigations.

  2. Bone mineral density in children with Down's syndrome detected by dual photon absorptiometry

    International Nuclear Information System (INIS)

    Kao, C.H.; Chen, C.C.; Wang, S.J.; Yeh, S.H.

    1992-01-01

    Bone mineral density (BMD) in ten children with Down's syndrome (seven boys, three girls; aged 10-16 years) was measured by dual photon absorptiometry (DPA) using an M and SE Osteo Tech 300 scanner. The BMD of the 2nd to 4th lumbar vertebrae was measured and the mean density presented as g cm -2 . The BMD of Down's syndrome was compared with the BMD of normal Chinese children of the same age group. The results showed that the BMD in Down's syndrome was significantly lower compared to that found in normal children. The percentage of decreased BMD is 8.47 ± 2.69% (mean ± 1 S.E.M.) in Down's syndrome compared to normal children of the same age group. The distribution curve of BMD against ages in Down's syndrome has a delay of 2.3 ± 0.5 (mean ± 1 S.E.M.) years compared to normal children. In our conclusion, the children with Down's syndrome have lower BMD than the normal children of the same age group. (Author)

  3. The friction sweat test as a new method for detecting facial anhidrosis in patients with Horner's syndrome.

    Science.gov (United States)

    Rosenberg, M L

    1989-10-15

    Forty-eight patients with Horner's syndrome documented by cocaine test were examined with the friction sweat test, a method of detecting a mild sweating asymmetry using alcohol and a standard office prism bar. In all but one patient, the results of the friction test corresponded with the results predicted by the history, physical examination, and Paredrine testing, or with the results of a starch-iodine sweat test. The test is a quick, simple, and reproducible procedure that allows a more accurate determination of the location of the Horner's syndrome at the initial office visit, and therefore assists in determining what tests need to be performed in the further examination of the patient.

  4. The usefulness of school-based syndromic surveillance for detecting malaria epidemics: experiences from a pilot project in Ethiopia.

    Science.gov (United States)

    Ashton, Ruth A; Kefyalew, Takele; Batisso, Esey; Awano, Tessema; Kebede, Zelalem; Tesfaye, Gezahegn; Mesele, Tamiru; Chibsa, Sheleme; Reithinger, Richard; Brooker, Simon J

    2016-01-09

    Syndromic surveillance is a supplementary approach to routine surveillance, using pre-diagnostic and non-clinical surrogate data to identify possible infectious disease outbreaks. To date, syndromic surveillance has primarily been used in high-income countries for diseases such as influenza--however, the approach may also be relevant to resource-poor settings. This study investigated the potential for monitoring school absenteeism and febrile illness, as part of a school-based surveillance system to identify localised malaria epidemics in Ethiopia. Repeated cross-sectional school- and community-based surveys were conducted in six epidemic-prone districts in southern Ethiopia during the 2012 minor malaria transmission season to characterise prospective surrogate and syndromic indicators of malaria burden. Changes in these indicators over the transmission season were compared to standard indicators of malaria (clinical and confirmed cases) at proximal health facilities. Subsequently, two pilot surveillance systems were implemented, each at ten sites throughout the peak transmission season. Indicators piloted were school attendance recorded by teachers, or child-reported recent absenteeism from school and reported febrile illness. Lack of seasonal increase in malaria burden limited the ability to evaluate sensitivity of the piloted syndromic surveillance systems compared to existing surveillance at health facilities. Weekly absenteeism was easily calculated by school staff using existing attendance registers, while syndromic indicators were more challenging to collect weekly from schoolchildren. In this setting, enrolment of school-aged children was found to be low, at 54%. Non-enrolment was associated with low household wealth, lack of parental education, household size, and distance from school. School absenteeism is a plausible simple indicator of unusual health events within a community, such as malaria epidemics, but the sensitivity of an absenteeism

  5. Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.

    Science.gov (United States)

    White, James G; Hess, Richard A; Gahl, William A; Introne, Wendy

    2013-01-01

    The present study has used electron microscopic techniques to rapidly detect the success or failure of bone marrow transplantation in three patients with the Chediak-Higashi Syndrome (CHS). The most rapid procedure was the whole mount technique to determine the presence or absence of dense bodies, which are inherently electron-opaque, serotonin-containing storage organelles in platelets. Dense bodies were present in normal numbers in platelets from two patients with successful transplantation and absent in thrombocytes from another patient in whom the transplant had failed.

  6. X-FIDO: An Effective Application for Detecting Olive Quick Decline Syndrome with Deep Learning and Data Fusion

    OpenAIRE

    Cruz, Albert C.; Luvisi, Andrea; De Bellis, Luigi; Ampatzidis, Yiannis

    2017-01-01

    We have developed a vision-based program to detect symptoms of Olive Quick Decline Syndrome (OQDS) on leaves of Olea europaea L. infected by Xylella fastidiosa, named X-FIDO (Xylella FastIdiosa Detector for O. europaea L.). Previous work predicted disease from leaf images with deep learning but required a vast amount of data which was obtained via crowd sourcing such as the PlantVillage project. This approach has limited applicability when samples need to be tested with traditional methods (i...

  7. Surface plasmon resonance biosensor for the detection of VEGFR-1-a protein marker of myelodysplastic syndromes

    Czech Academy of Sciences Publication Activity Database

    Pimková, K.; Bocková, Markéta; Hegnerová, Kateřina; Suttnar, J.; Čermák, J.; Homola, Jiří; Dyr, J. E.

    2012-01-01

    Roč. 402, č. 1 (2012), s. 381-387 ISSN 1618-2642 R&D Projects: GA AV ČR KAN200670701 Institutional research plan: CEZ:AV0Z20670512 Keywords : surface plasmon resonance * myelodysplastic syndromes * vascular endothelial growth factor Subject RIV: JA - Electronics ; Optoelectronics, Electrical Engineering Impact factor: 3.659, year: 2012

  8. 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

  9. 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

  10. Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes.

    Science.gov (United States)

    Guo, Yan; Bosompem, Amma; Mohan, Sanjay; Erdogan, Begum; Ye, Fei; Vickers, Kasey C; Sheng, Quanhu; Zhao, Shilin; Li, Chung-I; Su, Pei-Fang; Jagasia, Madan; Strickland, Stephen A; Griffiths, Elizabeth A; Kim, Annette S

    2015-09-24

    Although advances in sequencing technologies have popularized the use of microRNA (miRNA) sequencing (miRNA-seq) for the quantification of miRNA expression, questions remain concerning the optimal methodologies for analysis and utilization of the data. The construction of a miRNA sequencing library selects RNA by length rather than type. However, as we have previously described, miRNAs represent only a subset of the species obtained by size selection. Consequently, the libraries obtained for miRNA sequencing also contain a variety of additional species of small RNAs. This study looks at the prevalence of these other species obtained from bone marrow aspirate specimens and explores the predictive value of these small RNAs in the determination of response to therapy in myelodysplastic syndromes (MDS). Paired pre and post treatment bone marrow aspirate specimens were obtained from patients with MDS who were treated with either azacytidine or decitabine (24 pre-treatment specimens, 23 post-treatment specimens) with 22 additional non-MDS control specimens. Total RNA was extracted from these specimens and submitted for next generation sequencing after an additional size exclusion step to enrich for small RNAs. The species of small RNAs were enumerated, single nucleotide variants (SNVs) identified, and finally the differential expression of tRNA-derived species (tDRs) in the specimens correlated with diseasestatus and response to therapy. Using miRNA sequencing data generated from bone marrow aspirate samples of patients with known MDS (N = 47) and controls (N = 23), we demonstrated that transfer RNA (tRNA) fragments (specifically tRNA halves, tRHs) are one of the most common species of small RNA isolated from size selection. Using tRNA expression values extracted from miRNA sequencing data, we identified six tRNA fragments that are differentially expressed between MDS and normal samples. Using the elastic net method, we identified four tRNAs-derived small RNAs (t

  11. Use of CHAID Decision Trees to Formulate Pathways for the Early Detection of Metabolic Syndrome in Young Adults

    Directory of Open Access Journals (Sweden)

    Brian Miller

    2014-01-01

    Full Text Available Metabolic syndrome (MetS in young adults (age 20–39 is often undiagnosed. A simple screening tool using a surrogate measure might be invaluable in the early detection of MetS. Methods. A chi-squared automatic interaction detection (CHAID decision tree analysis with waist circumference user-specified as the first level was used to detect MetS in young adults using data from the National Health and Nutrition Examination Survey (NHANES 2009-2010 Cohort as a representative sample of the United States population (n=745. Results. Twenty percent of the sample met the National Cholesterol Education Program Adult Treatment Panel III (NCEP classification criteria for MetS. The user-specified CHAID model was compared to both CHAID model with no user-specified first level and logistic regression based model. This analysis identified waist circumference as a strong predictor in the MetS diagnosis. The accuracy of the final model with waist circumference user-specified as the first level was 92.3% with its ability to detect MetS at 71.8% which outperformed comparison models. Conclusions. Preliminary findings suggest that young adults at risk for MetS could be identified for further followup based on their waist circumference. Decision tree methods show promise for the development of a preliminary detection algorithm for MetS.

  12. Use of CHAID decision trees to formulate pathways for the early detection of metabolic syndrome in young adults.

    Science.gov (United States)

    Miller, Brian; Fridline, Mark; Liu, Pei-Yang; Marino, Deborah

    2014-01-01

    Metabolic syndrome (MetS) in young adults (age 20-39) is often undiagnosed. A simple screening tool using a surrogate measure might be invaluable in the early detection of MetS. Methods. A chi-squared automatic interaction detection (CHAID) decision tree analysis with waist circumference user-specified as the first level was used to detect MetS in young adults using data from the National Health and Nutrition Examination Survey (NHANES) 2009-2010 Cohort as a representative sample of the United States population (n = 745). Results. Twenty percent of the sample met the National Cholesterol Education Program Adult Treatment Panel III (NCEP) classification criteria for MetS. The user-specified CHAID model was compared to both CHAID model with no user-specified first level and logistic regression based model. This analysis identified waist circumference as a strong predictor in the MetS diagnosis. The accuracy of the final model with waist circumference user-specified as the first level was 92.3% with its ability to detect MetS at 71.8% which outperformed comparison models. Conclusions. Preliminary findings suggest that young adults at risk for MetS could be identified for further followup based on their waist circumference. Decision tree methods show promise for the development of a preliminary detection algorithm for MetS.

  13. Conduction abnormalities in the right ventricular outflow tract in Brugada syndrome detected body surface potential mapping.

    Science.gov (United States)

    Guillem, Maria S; Climent, Andreu M; Millet, Jose; Berne, Paola; Ramos, Rafael; Brugada, Josep; Brugada, Ramon

    2010-01-01

    Brugada syndrome (BrS) causes sudden death in patients with structurally normal hearts. Manifestation of BrS in the ECG is dynamical and most patients do not show unequivocal signs of the syndrome during ECG screening. We have obtained 67-lead body surface potential mapping recordings of 25 patients with BrS and analyzed their spatial distribution of surface potentials during ventricular activation. Six patients presented spontaneous type I ECGs during the recording. These patients showed non-dipolarities in isopotential maps at the right ventricular outflow tract (RVOT) region during the development of terminal R waves in right precordial leads. Same finding was observed in 95% of BrS patients not presenting a type I ECG. Conduction delay in the RVOT may be a consistent finding in BrS patients that can be identified by Body Surface Potential Mapping.

  14. Management of Complex Extremity Injuries: Tourniquets, Compartment Syndrome Detection, Fasciotomy, and Amputation Care

    Science.gov (United States)

    2012-01-01

    and knee joints. As with energy-transferring orthotics, lower extremity amputees can attain good function with energy transfer prosthesis . In general...E mail address: robert.rush1@us.army.mil KEYWORDS Extremity injury Mangled extremity Amputation Compartment syndrome Fasciotomy Prosthesis ...the soft tissue coverage of the bone for a below-the- knee amputation. 3. The definitive amputation procedure and stump closure do not have to be done at

  15. Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome.

    Science.gov (United States)

    Savoldelli, G; Schinzel, A

    1982-07-01

    The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80 degrees in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky craniocaudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.

  16. Amyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome.

    Science.gov (United States)

    Samões, Raquel; Taipa, Ricardo; Valdrez, Kátia; Gonçalves, Isabel; Melo Pires, Manuel; Martins da Silva, Ana; Coelho, Teresa

    2017-06-01

    Carpal tunnel syndrome (CTS) is a nonspecific manifestation of hereditary ATTR amyloidosis (ATTRm). Amyloid deposition of wild-type TTR (WT-ATTR) has been found in transverse carpal ligament (TCL) in idiopathic CTS. We retrospectively studied a group of patients with ATTRm and CTS submitted to carpal tunnel release surgery (CTRS). From the nerve conduction studies performed in our Clinical Unit dedicated to hereditary amyloidosis between July 2009 and October 2013, we selected patients who fulfilled neurophysiological criteria for CTS, had been submitted to CTRS and whose TCL was available for pathology. Clinical registries were reviewed and amyloid detection in the ligaments was performed using Congo-red staining. We included 16 patients: three males (18.8%), mean age = 46.1 years old, all with V30M mutation. At the time of surgery, four patients were considered asymptomatic and 12 symptomatic carriers, five of them late-onset ATTRm (onset age >50 years old). In all but one patient, the CTS preceded the polyneuropathy. Amyloid detection in the TCL was positive in 14 patients (87.5%). In most patients, CTS preceded or was contemporary to the polyneuropathy and amyloid detection in TCL was positive. The detection of amyloid in TCL may add specificity to CTS as an early manifestation of the disease but more studies are needed.

  17. Impaired detection and differentiation of briefly presented facial emotions in adults with high-functioning autism and asperger syndrome.

    Science.gov (United States)

    Frank, R; Schulze, L; Hellweg, R; Koehne, S; Roepke, S

    2018-02-19

    Although deficits in the recognition of emotional facial expressions are considered a hallmark of autism spectrum disorder (ASD), characterization of abnormalities in the differentiation of emotional expressions (e.g., sad vs. angry) has been rather inconsistent, especially in adults without intellectual impairments who may compensate for their deficits. In addition, previous research neglected the ability to detect emotional expressions (e.g., angry vs. neutral). The present study used a backward masking paradigm to investigate, a) the detection of emotional expressions, and b) the differentiation of emotional expressions in adults diagnosed with high functioning autism or Asperger syndrome (n = 23) compared to neurotypical controls (n = 25). Compensatory strategies were prevented by shortening the stimulus presentation time (33, 67, and 100 ms). In general, participants with ASD were significantly less accurate in detecting and differentiating emotional expressions compared to the control group. In the emotion differentiation task, individuals with ASD profited significantly less from an increase in presentation time. These results reinforce theoretical models that individuals with ASD have deficits in emotion recognition under time constraints. Furthermore, first evidence was provided that emotion detection and emotion differentiation are impaired in ASD. Copyright © 2018 Elsevier Ltd. All rights reserved.

  18. 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.

  19. Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome.

    Science.gov (United States)

    Oka, Yoichiro; Masumoto, Kouji; Nakamura, Masatoshi; Iwasaki, Akinori

    2011-10-01

    Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful. Copyright © 2012. Published by Elsevier B.V.

  20. Colonic volvulus detected by CT scan in a case with mental retardation and prune belly syndrome

    Directory of Open Access Journals (Sweden)

    Yoichiro Oka

    2011-10-01

    Full Text Available Colonic volvulus is a rare disease in children. Delayed diagnosis of the condition can often be fatal, especially in pediatric patients with mental retardation. We herein present the case of a female pediatric patient with colonic volvulus, prune belly syndrome, and mental retardation. Preoperative CT scans showed the characteristic signs of this disease. The volvulus occurred in the proximal colon of the colostomy. The release of the colonic volvulus and reconstruction of the colostomy were performed without the resection of the ischemic colon. The postoperative clinical course was uneventful.

  1. Cronobacter sakazakii DNA Detection in Cerebrospinal Fluid of a Patient with Amyotrophic Lateral Sclerosis Mimic Syndrome

    Directory of Open Access Journals (Sweden)

    Marianna Piombo

    2015-12-01

    Full Text Available A 45-year-old male noticed progressive weakness of the right lower limb with gait disturbance. Over the following months, motor deficits worsened, spreading to the right upper limb. Electromyography showed active denervation in the upper and lower limb muscles. A diagnosis of amyotrophic lateral sclerosis (ALS was made. About 2 years after symptom onset, gradual improvement occurred. Cerebrospinal fluid analysis performed about 3 years after the beginning of symptoms identified Cronobacter sakazakii. Since no other possible causes were identified, we suggest that an almost completely reversible ALS-like syndrome had been triggered by Cronobacter infection in our immunocompetent patient.

  2. Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer.

    Science.gov (United States)

    Cobain, Erin F; Milliron, Kara J; Merajver, Sofia D

    2016-10-01

    Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established. In addition, the testing of more genes has led to increased detection of variants of uncertain significance. We review the current knowledge regarding both high- and moderate-risk hereditary breast cancer syndromes, as well as additional genes implicated in hereditary breast cancer for which there is limited data. Furthermore, strategies for cancer risk reduction in mutation carriers as well as therapeutic implications for those patients who harbor pathogenic germline alterations are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Quantitative muscle hardness as a noninvasive means for detecting patients at risk of compartment syndromes

    International Nuclear Information System (INIS)

    Steinberg, Bruce; Riel, Ryan; Armitage, Marshal; Berrey, Hudson

    2011-01-01

    The purpose of this project was to study the efficacy of quantitative muscle hardness (QH) curve analysis for noninvasive measurement of muscle compartment interstitial pressure (IMP), and to eliminate the need for a comparison normal QH measurement to determine a pathologic reading. Elevation of IMP may lead to limb compartment syndrome, which may result in irreversible dysfunction, chronic pain and contracture. Two studies were performed by two separate independent examiners on male volunteers, where IMP measurements and QH curves were obtained. QH curves were divided into three parts comparing the third part to the second part using the coefficient of determination (R 2 ). In 205 limb compartments, there were 1432 comparison readings of the IMP versus R 2 . Using receiver operator characteristic curve analysis for all data from both studies, an R 2 cutoff of 0.974 best corresponded to a pathologic IMP of 50 mmHg. For both sets of data and for each compartment tested, the mean IMP values were statistically different (t-test: P < 0.0001) for the group with R 2 values less than 0.974 compared to the group of R 2 values greater than or equal to 0.974. In addition, a pressure prediction model was formulated with a strong overall correlation coefficient of 0.78. The data of this study support that QH analysis is potentially useful for the monitoring of IMP elevation in compartment syndrome

  4. Importance of Early Detection and Cardiovascular Surgical Intervention in Marfan Syndrome.

    Science.gov (United States)

    DelloStritto, Rita; Branham, Steve; Chemmachel, Christina; Patel, Jayna; Skolkin, Dayna; Gilani, Salima; Uleanya, Klever

    Marfan syndrome is an autosomal dominant connective tissue disorder that affects multiple systems, including the skeletal, ligamentous, oculofacial, pulmonary, abdominal, neurological, and cardiovascular systems. Cardiovascular complications, which involve the aorta and aortic valve, contribute most significantly to patient morbidity and mortality. A literature review was conducted on pathophysiology of the disease and recommendations for early diagnosis and treatment. Diagnosis largely relies on clinical features and a thorough history. Echocardiogram is used for monitoring aortic abnormalities and disease progression. Aortic valve-sparing surgery is indicated in any valvular abnormality and in patients with a murmur. Aortic root replacement is indicated prophylactically in women who want to give birth with diameters greater than 40 mm, anyone with a diameter greater than 50 mm, and progressive dilatation of greater than 5 mm per year. Medical management involves antihypertensive therapy. It is imperative for all health care providers to understand the clinical features, progression, and management of Marfan syndrome to appropriately care for their patients. Ensuring regular follow-up and adherence to medical and surgical prophylaxis is essential to patient well-being.

  5. Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

    Directory of Open Access Journals (Sweden)

    Vallès Vicenç

    2008-02-01

    Full Text Available Abstract Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. In addition, this region is one of the best replicated linkage findings for schizophrenia. Recently, the reciprocal microduplication on 22q11.2 has been reported as a new syndrome. Preliminary data indicates that individuals with these duplications also suffer from neuropsychiatric disorders. In this study we have investigated the appropriateness of testing schizophrenia patients for the 22q11.2 microduplication. We used multiplex ligation-dependent probe amplification (MLPA to measure copy number changes on the 22q11.2 region in a sample of 190 patients with schizophrenia. Our results corroborate the prevalence of the 22q11.2 microdeletion in patients with schizophrenia and clinical features of DG/VCFS and do not suggest an association between 22q11.2 microduplication and schizophrenia.

  6. Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment.

    Science.gov (United States)

    Byon, Mina; Kim, Gwang Jun

    2013-07-01

    Prune-belly syndrome may be related to lower urinary tract obstruction (LUTO). LUTO in the early gestational age exacerbates fetal renal function and may require intrauterine intervention. If early developed LUTO causes bladder distension and abdominal musculature deficiency, it will result in prune belly syndrome. Therefore, early detection of the disease and proper treatment before the renal impairment is important. However, there are few literatures concerning the treatment of prune belly syndrome in the first trimester. We report a case of prune belly syndrome diagnosed at 11+6 weeks of gestation and the value of vesicocentesis as a modality of treatment. Ultrasound showed dilated fetal bladder and vesicocentesis was successful in reducing the volume of the bladder. However, the pregnancy was terminated upon request.

  7. Detection of Brazilian hantavirus by reverse transcription polymerase chain reaction amplification of N gene in patients with hantavirus cardiopulmonary syndrome

    Directory of Open Access Journals (Sweden)

    Marcos Lázaro Moreli

    2004-10-01

    Full Text Available We report a nested reverse transcription-polymerase chain reaction (RT-PCR assay for hantavirus using primers selected to match high homology regions of hantavirus genomes detected from the whole blood of hantavirus cardiopulmonary syndrome (HCPS patients from Brazil, also including the N gene nucleotide sequence of Araraquara virus. Hantavirus genomes were detected in eight out of nine blood samples from the HCPS patients by RT-PCR (88.9% positivity and in all 9 blood samples (100% positivity by nested-PCR. The eight amplicons obtained by RT-PCR (P1, P3-P9, including one obtained by nested-PCR (P-2 and not obtained by RT-PCR, were sequenced and showed high homology (94.8% to 99.1% with the N gene of Araraquara hantavirus. Although the serologic method ELISA is the most appropriate test for HCPS diagnosis, the use of nested RT-PCR for hantavirus in Brazil would contribute to the diagnosis of acute hantavirus disease detecting viral genomes in patient specimens as well as initial genomic characterization of circulating hantaviruses.

  8. Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

    Science.gov (United States)

    McDermott, John H; Byers, Helen; Clayton-Smith, Jill

    2016-01-01

    The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are frequently not identified in lymphocyte DNA, with biopsies of the affected tissues often being required to detect mosaic mutations. Such invasive procedures are not always acceptable to parents. We describe the case of a patient in whom we were able to confirm a causative PIK3CA mutation, first found thorugh next-generation sequencing, in several tissue types including a secondary tooth. As part of this work, we were also able to begin validating dental tissue for potential use in genetic testing, as we achieved excellent DNA yields with minimal effort, even from deciduous teeth shed some years earlier.

  9. Detectable IL-8 and IL-10 in bronchoalveolar lavage fluid from preterm infants ventilated for respiratory distress syndrome.

    Science.gov (United States)

    Beresford, Michael W; Shaw, Nigel J

    2002-12-01

    Pro-inflammatory cytokines such as IL-8 play an important role in the inflammatory response to neonatal airway injury. Difficulty in detecting counter-regulatory cytokines such as IL-10 in lavage fluid from preterm infants led to the suggestion that its deficit may be a factor in the etiology of chronic lung disease of prematurity (CLD). The aim of the study was to determine IL-8 and IL-10 concentrations in lavage fluid from preterm infants ventilated for respiratory distress syndrome. Fifty infants Infants dying or developing CLD had a significant early rise in both cytokine concentrations. Compared with infants developing CLD, lavage IL-10 concentrations were significantly higher on d 1 among those not developing CLD but significantly lower on d 4 (p infants and its concentrations rise significantly over the first five postnatal days. In the same samples, IL-8 concentration also rises and this increase precedes the rise in IL-10.

  10. A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle.

    Science.gov (United States)

    Abdeen, Ahmed; Sonoda, Hiroko; Kobayashi, Ikuo; Kitahara, Go; Ikeda, Masahiro

    2013-01-01

    Chediak-Higashi syndrome (CHS) is an autosomal recessive hereditary disorder in Japanese Black cattle, caused by a mutation of the Lyst gene. So far, the mutation has been detected by PCR-restriction fragment length polymorphism (PCR-RFLP) analysis. However, this method is disadvantaged by its low-throughput performance. Here, we report an alternative method involving real-time PCR with TaqMan minor groove binder probes, which shortens the total assay time by more than 120 min, analyzing 10 samples in a duplicated manner. Using this method, we examined 102 Japanese Black cattle and found that 8.8% of the cattle were CHS-carriers. These data indicate that our technique is useful for routine diagnostic testing for CHS in Japanese Black cattle.

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

    International Nuclear Information System (INIS)

    Andereggen, Lukas; Schroth, Gerhard; Gralla, Jan; Ozdoba, Christoph; Seiler, Rolf; Mariani, Luigi; Beck, Juergen; Widmer, Hans-Rudolf; Andres, Robert H.; Christ, Emanuel

    2012-01-01

    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.)

  12. 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.

  13. 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....

  14. 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....

  15. 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

    -amplified and sequenced from DNA of 50 randomly chosen patients with suspected Alport syndrome. Mutations were found in 41 patients, giving a mutation detection rate of 82%. Retrospective analysis of clinical data revealed that two of the cases might be autosomal. Although it could not be determined whether the remaining...... seven cases (14%) were autosomal or X chromosome-linked, it is likely that some of them were autosomal. It is concluded that PCR amplification and direct DNA sequencing of the promoter and exons is currently the best procedure to detect mutations in COL4A5 in Alport syndrome.......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...

  16. The incidence of metabolic syndrome in obese Czech children: the importance of early detection of insulin resistance using homeostatic indexes HOMA-IR and QUICKI.

    Science.gov (United States)

    Pastucha, D; Filipčíková, R; Horáková, D; Radová, L; Marinov, Z; Malinčíková, J; Kocvrlich, M; Horák, S; Bezdičková, M; Dobiáš, M

    2013-01-01

    Common alimentary obesity frequently occurs on a polygenic basis as a typical lifestyle disorder in the developed countries. It is associated with characteristic complex metabolic changes, which are the cornerstones for future metabolic syndrome development. The aims of our study were 1) to determine the incidence of metabolic syndrome (based on the diagnostic criteria defined by the International Diabetes Federation for children and adolescents) in Czech obese children, 2) to evaluate the incidence of insulin resistance according to HOMA-IR and QUICKI homeostatic indexes in obese children with and without metabolic syndrome, and 3) to consider the diagnostic value of these indexes for the early detection of metabolic syndrome in obese children. We therefore performed anthropometric and laboratory examinations to determine the incidence of metabolic syndrome and insulin resistance in the group of 274 children with obesity (128 boys and 146 girls) aged 9-17 years. Metabolic syndrome was found in 102 subjects (37 %). On the other hand, the presence of insulin resistance according to QUICKI HOMA-IR >3.16 in 53 % of obese subjects. This HOMA-IR limit was exceeded by 70 % children in the MS(+) group, but only by 43 % children in the MS(-) group (p<0.0001). However, a relatively high incidence of insulin resistance in obese children without metabolic syndrome raises a question whether the existing diagnostic criteria do not falsely exclude some cases of metabolic syndrome. On the basis of our results we suggest to pay a preventive attention also to obese children with insulin resistance even if they do not fulfill the actual diagnostic criteria for metabolic syndrome.

  17. 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...

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

    International Nuclear Information System (INIS)

    Chu Yongli; Sun Yongyu; Qiu Hongyu

    2002-01-01

    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

  19. Failure of Syndrome-Based Diarrhea Management Guidelines to Detect Shigella Infections in Kenyan Children.

    Science.gov (United States)

    Pavlinac, P B; Denno, D M; John-Stewart, G C; Onchiri, F M; Naulikha, J M; Odundo, E A; Hulseberg, C E; Singa, B O; Manhart, L E; Walson, J L

    2016-12-01

    Shigella is a leading cause of childhood diarrhea mortality in sub-Saharan Africa. Current World Health Organization guidelines recommend antibiotics for children in non cholera-endemic areas only in the presence of dysentery, a proxy for suspected Shigella infection. To assess the sensitivity and specificity of the syndromic diagnosis of Shigella-associated diarrhea, we enrolled children aged 6 months to 5 years presenting to 1 of 3 Western Kenya hospitals between November 2011 and July 2014 with acute diarrhea. Stool samples were tested using standard methods for bacterial culture and multiplex polymerase chain reaction for pathogenic Escherichia coli. Stepwise multivariable logit models identified factors to increase the sensitivity of syndromic diagnosis. Among 1360 enrolled children, median age was 21 months (interquartile range, 11-37), 3.4% were infected with human immunodeficiency virus, and 16.5% were stunted (height-for-age z-score less than -2). Shigella was identified in 63 children (4.6%), with the most common species being Shigella sonnei (53.8%) and Shigella flexneri (40.4%). Dysentery correctly classified 7 of 63 Shigella cases (sensitivity, 11.1%). Seventy-eight of 1297 children without Shigella had dysentery (specificity, 94.0%). The combination of fecal mucous, age over 23 months, and absence of excessive vomiting identified more children with Shigella-infection (sensitivity, 39.7%) but also indicated antibiotics in more children without microbiologically confirmed Shigella (specificity, 82.7%). Reliance on dysentery as a proxy for Shigella results in the majority of Shigella-infected children not being identified for antibiotics. Field-ready rapid diagnostics or updated evidence-based algorithms are urgently needed to identify children with diarrhea most likely to benefit from antibiotic therapy. © The Author 2015. Published by Oxford University Press on behalf of the Pediatric Infectious Diseases Society. All rights reserved. For Permissions

  20. Detection of Campylobacter jejuni by culture and real-time PCR in a French cohort of patients with Guillain-Barre syndrome.

    Science.gov (United States)

    Sivadon-Tardy, Valérie; Orlikowski, David; Porcher, Raphael; Ronco, Esthel; Caudie, Christiane; Roussi, Jacqueline; Fauchère, Jean-Louis; Mégraud, Francis; Tabor, Helen; Sharshar, Tarek; Annane, Djillali; Raphaël, Jean-Claude; Gaillard, Jean-Louis

    2010-06-01

    Bacteriological culture and real-time PCR (RT-PCR) were used to detect Campylobacter jejuni in fecal samples from a French cohort of 237 patients with Guillain-Barré syndrome (GBS). We provide evidence that diverse serotypes and genotypes of C. jejuni are a major trigger of GBS in France.

  1. Accurate Detection of Changes in Disease Activity in Primary Sjogren's Syndrome by the European League Against Rheumatism Sjogren's Syndrome Disease Activity Index

    NARCIS (Netherlands)

    Seror, Raphaele; Mariette, Xavier; Bowman, Simon; Baron, Gabriel; Gottenberg, Jacques Eric; Boostma, Hendrika; Theander, Elke; Tzioufas, Athanasios; Vitali, Claudio; Ravaud, Philippe

    Objective. To assess and compare the sensitivity to change of the European League Against Rheumatism Sjogren's Syndrome Disease Activity Index (ESSDAI) with that of other primary Sjogren's syndrome (SS) disease activity indexes. Methods. We abstracted 96 patient profiles, including data on 3

  2. Detection of reduced secretion of type III collagen by Western blotting:Its usefulness in screening for vascular Ehlers-Danlos syndrome

    OpenAIRE

    Mizoguchi, Masako; Momota, Yutaka; Kobayashi, Takashi; Matsue, Hiroyuki; Shinkai, Hiroshi; Utani, Atsushi

    2007-01-01

    Prognosis of vascular Ehlers-Danlos syndrome (EDS) is very poor because of rupture of arteries, the intestine or uterus. Early diagnosis is desirable but it is difficult to diagnose as skin hyperextensibility and joint hypermobility are generally mild. For a definitive diagnosis, detection of reduced secretion of type III collagen or identification of COL3A1 mutations by DNA sequencing needs to be performed. Although reduced type III collagen secretion has been detected by autofluorography us...

  3. Syndromic Surveillance and Outbreak Detection Using Automated Microbiologic Laboratory Test Order Data

    Science.gov (United States)

    2007-06-15

    Adenovirus (40/41)/Rotavirus Adenovirus (40/41), Direct EIA Norovirus, RT-PCR Rotavirus Detection by EIA Cryptosporidium Smear, Stool...IgM, Qn HTLV-I/II Antibodies, Qual Ureaplasma/Mycoplasma hominis Severe Illness or Death potentially due to infectious disease ACUTE onset of... CRYPTOSPORIDIUM CRYPTOSPORIDIUM CSF CULT CSF CULTURE CULTURE CSF; SPINAL FLUID CULTURE CYANOBACTERIUM ID CYANOBTERIUM ID CYCLOSPORA

  4. Chest health surveillance utility in the early detection of bronchiolitis obliterans syndrome in children after allo-SCT.

    Science.gov (United States)

    Gassas, A; Craig-Barnes, H; Dell, S; Doyle, J; Schechter, T; Sung, L; Egeler, M; Palaniyar, N

    2013-06-01

    To prospectively assess whether periodic chest health surveillance is beneficial for the early detection of bronchiolitis obliterans syndrome (BOS) in children after allo-SCT. Children up to 18 years of age receiving allo-SCT from September 2009 to September 2011 were included. Surveillance consisted of the following: a 7-item respiratory system questionnaire of cough, wheeze and shortness of breath; focused physical examination; and pulmonary function test (PFT) conducted before SCT and at 1, 3, 6, 9, 12, 18 and 24 months after SCT. Thirty-nine patients were enrolled. Five children developed BOS at a median time of 192 days (range 94-282). Positive response comparisons between the BOS group vs the non-BOS group were NS for history questionnaire (P=0.2), heart rate (P=0.3), respiratory rate (P=0.3) and oxygen saturation monitoring (P=0.8). Differences between the two groups for chest auscultation and PFT were statistically significant (P=0.03 and P=0.01, respectively). However, chest auscultation in the BOS group was only positive after BOS diagnosis. PFT reduction was evident in the asymptomatic phase (BOS group 33%; non-BOS group 4.5%, P=0.01). Changes in PFT, but not history/physical examination, allow the early detection of BOS in children after SCT. Our study is limited by the small sample size.

  5. A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gilbert-Dussardier, B. [Hopital des Enfants-Malades, Paris (France)]|[Hopital Dupuytren, Limoges (France); Bonneau, D. [Hopital des Enfants-Malades, Paris (France)]|[Hopital Jean Bernard, Poitiers (France); Gigarel, N.; Le Merrer, M.; Bonnet, D.; Lyonnet, S.; Munnich, A. [Hopital des Enfants-Malades, Paris (France); Philip, N.; Mattei, M.G. [Hopital de La Timone, Marseille (France)] [and others

    1995-02-01

    Williams syndrome (WS) is a predominantly sporadic developmental disorder characterized by dysmorphic facial features, infantile hypercalcemia, premature aging of skin, mental retardation and gregarious personality. Supravalvular aortic stenosis (SVAS) and other vascular diseases caused by the narrowing of large elastic arteries are present in almost 80% of cases. Recently, hemizygosity at the elastin locus has been shown in sporadic WS, suggesting that this disease is caused by deletions encompassing the elastin gene on chromosome 7q11.23. Taking advantage of a large series of sporadic WS (27 cases), we have explored the potential application of novel microsatellite DNA markers in the rapid detection of hemizygosity in WS. We report here a highly informative marker at locus D7S1870, which detected failure of parental inheritance in almost 75% of cases of WS in our series. This marker can be regarded therefore as a reliable and useful diagnostic tool in suspected cases of WS as well as in complicated forms of supravalvular aortic stenosis. 10 refs., 2 figs.

  6. 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.

  7. Is Metabolic Syndrome On the Radar? Improving Real-Time Detection of Metabolic Syndrome and Physician Response by Computerized Scan of the Electronic Medical Record

    Science.gov (United States)

    Lui, Kingwai; Randhawa, Gagandeep; Totten, Vicken; Smith, Adam E.; Raese, Joachim

    2016-01-01

    Objective: Metabolic syndrome is a common underdiagnosed condition among psychiatric patients exacerbated by second-generation antipsychotics, with the exception of aripiprazole and ziprasidone. This study evaluated the prescribing and treating behavior with regard to antipsychotics and metabolic syndrome of psychiatrists before and after implementation of a mandatory admission order set and electronic notification of results. Method: Baseline data from 9,100 consecutive psychiatric admissions to a mental health hospital (July 2013–July 2014) were compared to postintervention data (July 2014–January 2015), which included 1,499 consecutive patient records. The intervention initiated standardized admission testing with electronic notification to psychiatrists when patients met metabolic syndrome criteria (according to Axis III of the DSM-IV). Charts were examined for inclusion of this diagnosis at discharge and for treatment changes. Results: At baseline, only 2.4% of patients (n = 214) were evaluated for metabolic syndrome. Of these, 34.5% (0.8% of the total sample) met metabolic syndrome criteria. Only 15 patients (0.16%) were comprehensively treated. No chart listed metabolic syndrome under Axis III of the DSM-IV. After the intervention, the diagnosis of patients meeting the criteria for metabolic syndrome increased from 0% to 29.3%. Less than 3% of patients were switched to drugs with a more benign metabolic profile. All patients who continued on second-generation antipsychotics had metabolic retesting. Thirty-eight experienced a significant and rapid increase in triglyceride levels after only 3 to 17 days. Conclusions: Mandatory intake testing increases the number of patients evaluated for metabolic syndrome. Electronic alerts increase the inclusion of metabolic syndrome among discharge diagnoses but rarely affect prescribing practices. PMID:27247842

  8. Novel enzyme immunoassay system for simultaneous detection of six subclasses of antiphospholipid antibodies for differential diagnosis of antiphospholipid syndrome.

    Science.gov (United States)

    Nojima, Junzo; Motoki, Yukari; Hara, Kazusa; Sakata, Toshiyuki; Ichihara, Kiyoshi

    2017-06-01

    : Antiphospholipid syndrome, which often complicates systemic lupus erythematosus (SLE), features high occurrence of arterial and/or venous thrombosis and recurrent fetal loss. However, which antibody subclass contributes to which clinical event remains uncertain. We newly developed an up-to-date enzyme immunoassay system using the AcuStar automated analyzer (Instrumentation Laboratory, Bedford, Massachusetts, USA) for parallel detection of six subclasses of antiphospholipid antibodies (aPLs): anticardiolipin antibodies (aCL) of IgG, IgM, and IgA and anti-β2-glycoprotein I antibodies (aβ2GPI) of IgG, IgM, and IgA. They were measured in 276 healthy volunteers and 138 patients with SLE: 45 with thromboembolic complications (29 arterial; 16 venous) and 93 without. Lupus anticoagulant activity in their plasma was measured according to the guidelines recommended by the Subcommittee on Lupus Anticoagulant/Phospholipid-Dependent Antibodies. aCL/β2GPI was measured with a standard ELISA kit commonly used in Japan. The positive results of IgG aCL, IgA aCL, and IgG aβ2GPI were closely associated with thromboembolic complications, whereas IgM aCL and IgM aβ2GPI were not. receiver operating characteristic analysis revealed that the accuracy of predicting thromboembolic complications based on the composite test results of the former three antibodies were obviously higher than by each alone. Regarding agreement with the test results of lupus anticoagulant activity, IgG aβ2GPI showed the closest match. Patients with SLE frequently possess various combinations of the six aPL subclasses, and this antibody spectrum is closely associated with thromboembolic events in these patients. This new automated enzyme immunoassay system allows simultaneous analysis of the profile of aPL subclasses for the differential diagnosis of antiphospholipid antibody syndrome in its early stage.

  9. The role of MSCT angiography in early detection of lower limb arterial lesions in patients with antiphospholipid syndrome.

    Science.gov (United States)

    Saponjski, Jovica; Stojanovich, Ljudmila; Petrovic, Jelena; Saponjski, Dusan

    2017-04-01

    Antiphospholipid syndrome (APS) is an autoimmune disease which is characterized by arterial and venous thromboses, fetal loss, and the presence of antiphospholipid antibodies in the serum. It is characterized by accelerated atherosclerosis. Increased tendency towards thrombosis leads to the occurrence of various vascular events. The objective of our study was to determine if there are subclinical changes on lower limb arteries in APS patients and what the best diagnostic choice for their establishment is. In this study, we analyzed 50 patients with primary antiphospholipid syndrome (PAPS) and 50 patients, who have secondary antiphospholipid syndrome (SAPS). The results were compared to 50 controls. The groups were comparable with respect to age, gender, and traditional risk factors except for the lipid status, since controls had significantly higher levels of cholesterol and triglycerides. Study was conducted on 64-multi-slice computed tomography (64-MSCT), where we analyzed quantitative and morphological characteristics of blood vessel-detected lesions. Patients from the control group had statistically very significant elevated cholesterol and triglyceride levels in regard to the patients with SAPS and PAPS (p < 0.001 and p < 0.05). Analyzing percentage of diameter stenosis, we have established that lesions from group with 0-30% diameter stenosis (DS) in patients with PAPS (n = 47) and SAPS (n = 39) are more common than that in control group (n = 3, p < 0.001). The incidence of lesions higher than 70% DS in control group (n = 74) was statistically significant than that in patients with SAPS (n = 74, p < 0.05), while very statistically significant than that in patients with PAPS (n = 48, p < 0.001). Analyzing the qualitative characteristics of plaques, we have established significant higher frequency of soft tissue (n = 32) and mixed lesions (n = 36) in patients with PAPS than the calcified one (n = 7, p < 0.001). Our study showed that

  10. Emotional Burnout Syndrome When Teaching Pediatrics to Senior Students from the Faculty for Foreign Citizens: Detection of the Symptoms and Ways to Eliminate Them

    Directory of Open Access Journals (Sweden)

    I.S. Lembryk

    2016-10-01

    Full Text Available The article presents the data concerning definition, components and the manifestations of emotional burnout syndrome in general and in medical teachers, in particular. The author has analyzed the history of the question for the last decades, evaluated the findings, systemized the main approaches to the detection and liquidation of symptoms of emotional burnout syndrome. Negative personality traits were identified both in the teacher and medical student contributing to the development of emotional burnout in the teacher. The author proposes the ways to solve this problem in higher medical school.

  11. Effectiveness of physical exam signs for early detection of critical illness in pediatric systemic inflammatory response syndrome.

    Science.gov (United States)

    Scott, Halden F; Donoghue, Aaron J; Gaieski, David F; Marchese, Ronald F; Mistry, Rakesh D

    2014-11-19

    Early detection of compensated pediatric septic shock requires diagnostic tests that are sensitive and specific. Four physical exam signs are recommended for detecting pediatric septic shock prior to hypotension (cold extremities, mental status, capillary refill, peripheral pulse quality); this study tested their ability to detect patients who develop organ dysfunction among a cohort of undifferentiated pediatric systemic inflammatory response syndrome patients. A prospective cohort of 239 pediatric emergency department patients physical exams on a standardized form. Abstraction of the medical record determined outcomes including organ dysfunction, intensive care unit stay, serious bacterial infection, and therapies. Organ dysfunction occurred in 13/239 (5.4%) patients. Presence of at least one sign was significantly associated with organ dysfunction (Relative Risk: 2.71, 95% CI: 1.05-6.99), and presence of at least two signs had a Relative Risk = 4.98 (95% CI: 1.82-13.58). The sensitivity of exam findings ranged from 8-54%, specificity from 84-98%. Signs were associated with increased risk of intensive care and fluid bolus, but not with serious bacterial infection, intravenous antibiotics or admission. Altered mental status and peripheral pulse quality were significantly associated with organ dysfunction, while abnormal capillary refill time and presence of cold, mottled extremities were not. Certain recommended physical exam signs were associated with increased risk of organ dysfunction, a rare outcome in this undifferentiated pediatric population with fever and tachycardia. Sensitivity was low, while specificity was high. Additional research into optimally sensitive and specific diagnostic strategies is needed.

  12. X-FIDO: An Effective Application for Detecting Olive Quick Decline Syndrome with Deep Learning and Data Fusion.

    Science.gov (United States)

    Cruz, Albert C; Luvisi, Andrea; De Bellis, Luigi; Ampatzidis, Yiannis

    2017-01-01

    We have developed a vision-based program to detect symptoms of Olive Quick Decline Syndrome (OQDS) on leaves of Olea europaea L. infected by Xylella fastidiosa , named X-FIDO ( Xylella FastIdiosa Detector for O. europaea L.). Previous work predicted disease from leaf images with deep learning but required a vast amount of data which was obtained via crowd sourcing such as the PlantVillage project. This approach has limited applicability when samples need to be tested with traditional methods (i.e., PCR) to avoid incorrect training input or for quarantine pests which manipulation is restricted. In this paper, we demonstrate that transfer learning can be leveraged when it is not possible to collect thousands of new leaf images. Transfer learning is the re-application of an already trained deep learner to a new problem. We present a novel algorithm for fusing data at different levels of abstraction to improve performance of the system. The algorithm discovers low-level features from raw data to automatically detect veins and colors that lead to symptomatic leaves. The experiment included images of 100 healthy leaves, 99 X. fastidiosa -positive leaves and 100 X. fastidiosa -negative leaves with symptoms related to other stress factors (i.e., abiotic factors such as water stress or others diseases). The program detects OQDS with a true positive rate of 98.60 ± 1.47% in testing, showing great potential for image analysis for this disease. Results were obtained with a convolutional neural network trained with the stochastic gradient descent method, and ten trials with a 75/25 split of training and testing data. This work shows potential for massive screening of plants with reduced diagnosis time and cost.

  13. X-FIDO: An Effective Application for Detecting Olive Quick Decline Syndrome with Deep Learning and Data Fusion

    Directory of Open Access Journals (Sweden)

    Albert C. Cruz

    2017-10-01

    Full Text Available We have developed a vision-based program to detect symptoms of Olive Quick Decline Syndrome (OQDS on leaves of Olea europaea L. infected by Xylella fastidiosa, named X-FIDO (Xylella FastIdiosa Detector for O. europaea L.. Previous work predicted disease from leaf images with deep learning but required a vast amount of data which was obtained via crowd sourcing such as the PlantVillage project. This approach has limited applicability when samples need to be tested with traditional methods (i.e., PCR to avoid incorrect training input or for quarantine pests which manipulation is restricted. In this paper, we demonstrate that transfer learning can be leveraged when it is not possible to collect thousands of new leaf images. Transfer learning is the re-application of an already trained deep learner to a new problem. We present a novel algorithm for fusing data at different levels of abstraction to improve performance of the system. The algorithm discovers low-level features from raw data to automatically detect veins and colors that lead to symptomatic leaves. The experiment included images of 100 healthy leaves, 99 X. fastidiosa-positive leaves and 100 X. fastidiosa-negative leaves with symptoms related to other stress factors (i.e., abiotic factors such as water stress or others diseases. The program detects OQDS with a true positive rate of 98.60 ± 1.47% in testing, showing great potential for image analysis for this disease. Results were obtained with a convolutional neural network trained with the stochastic gradient descent method, and ten trials with a 75/25 split of training and testing data. This work shows potential for massive screening of plants with reduced diagnosis time and cost.

  14. Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome

    Directory of Open Access Journals (Sweden)

    Lv Liu

    2017-01-01

    Full Text Available Birt-Hogg-Dube syndrome (BHD, OMIM#135150 is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997 are mainly responsible for this disease. In this research, we enrolled two BHD families and applied direct sequencing of FLCN to explore the genetic lesions in them. Two FLCN mutations were identified: one is a novel deletion variant (c.668delA/p.N223TfsX19, while the other is a previously reported insertion mutation (c.1579_1580insA/p.R527QfsX75. And the pathogenicity of both variants was confirmed by cosegregation assay. Bioinformatics analysis showed that c.668delA may lead to functional haploinsufficiency of FLCN because mRNA carrying this mutation exhibits a faster degradation rate comparing to the wild type. Real-time qPCR also confirmed that the mRNA level of FLCN expression in the proband was decreased significantly compared with the controls, which may disrupt the mTOR pathway and lead to BHD. The insertion mutation (c.1579_1580insA was predicted to cause a prolonged amino acid sequence of FLCN. The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in BHD and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of families with BHD.

  15. 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

    observational study were women with twin pregnancies diagnosed before 14 + 6 gestational weeks. The monochorionic pregnancies were scanned every second week until 23 weeks in order to rule out early TTTS. All pregnancies had an anomaly scan in week 19 and fetal echocardiography in week 21 that was performed...... 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...... translucency scan and the anomaly scan in week 19. The incidence of severe structural abnormalities was 2.6% and two-thirds of these anomalies were cardiac. There was no significant difference between the incidence in monozygotic and dizygotic twins, nor between twins conceived naturally or those conceived...

  16. Performance of Fibromyalgia Rapid Screening Tool (FiRST) to detect fibromyalgia syndrome in rheumatic diseases.

    Science.gov (United States)

    Fan, Angelique; Tournadre, Anne; Pereira, Bruno; Tatar, Zuzana; Couderc, Marion; Malochet-Guinamand, Sandrine; Mathieu, Sylvain; Soubrier, Martin; Dubost, Jean-Jacques

    2016-10-01

    To evaluate the performance of the Fibromyalgia Rapid Screening Tool (FiRST) self-questionnaire for the detection of FM associated with inflammatory rheumatic diseases. This cross-sectional, French single-centre study was carried out between September 2014 and April 2015 in all patients who consulted for RA, SpA or CTD. Diagnosis of FM was based on ACR 90 criteria and rheumatologist opinion. The self-questionnaire was completed by 605 patients (279 RA, 271 SpA, 57 CTD). It detected 143 concomitant FMs (24.4%). When assessed against ACR 90 criteria, FiRST had a sensitivity of 74.5%, a specificity of 80.4%, a positive predictive value of 26.6% and a negative predictive value (NPV) of 97.1%. Specificity was lower in the CTD group (RA: 84.4%, SpA: 80.2%, CTD: 59.6%) (P = 0.001). When assessed against the rheumatologist's opinion, FiRST had a sensitivity of 75.8%, a specificity of 85.1%, a positive predictive value of 48.3% and an NPV of 95%. Sensitivity was lower in the SpA group than in the CTD group (66% vs 94.4%) (P = 0.004). Performance varied according to self-questionnaire items. Although it performs less well in inflammatory rheumatic disease, FiRST's opinion is close to that of the rheumatologist. It can be used by the rheumatologist in clinical practice for patients facing an apparent treatment failure and to rule out a potential FM diagnosis which could interfere with the treatment response. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. 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

  18. Detection rate of serrated polyps and serrated polyposis syndrome in colorectal cancer screening cohorts: a European overview.

    Science.gov (United States)

    IJspeert, J E G; Bevan, R; Senore, C; Kaminski, M F; Kuipers, E J; Mroz, A; Bessa, X; Cassoni, P; Hassan, C; Repici, A; Balaguer, F; Rees, C J; Dekker, E

    2017-07-01

    The role of serrated polyps (SPs) as colorectal cancer precursor is increasingly recognised. However, the true prevalence SPs is largely unknown. We aimed to evaluate the detection rate of SPs subtypes as well as serrated polyposis syndrome (SPS) among European screening cohorts. Prospectively collected screening cohorts of ≥1000 individuals were eligible for inclusion. Colonoscopies performed before 2009 and/or in individuals aged below 50 were excluded. Rate of SPs was assessed, categorised for histology, location and size. Age-sex-standardised number needed to screen (NNS) to detect SPs were calculated. Rate of SPS was assessed in cohorts with known colonoscopy follow-up data. Clinically relevant SPs (regarded as a separate entity) were defined as SPs ≥10 mm and/or SPs >5 mm in the proximal colon. Three faecal occult blood test (FOBT) screening cohorts and two primary colonoscopy screening cohorts (range 1.426-205.949 individuals) were included. Rate of SPs ranged between 15.1% and 27.2% (median 19.5%), of sessile serrated polyps between 2.2% and 4.8% (median 3.3%) and of clinically relevant SPs between 2.1% and 7.8% (median 4.6%). Rate of SPs was similar in FOBT-based cohorts as in colonoscopy screening cohorts. No apparent association between the rate of SP and gender or age was shown. Rate of SPS ranged from 0% to 0.5%, which increased to 0.4% to 0.8% after follow-up colonoscopy. The detection rate of SPs is variable among screening cohorts, and standards for reporting, detection and histopathological assessment should be established. The median rate, as found in this study, may contribute to define uniform minimum standards for males and females between 50 and 75 years of age. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  19. Optimal cutoff points for the detection of undiagnosed type 2 diabetes, hypertension and metabolic syndrome in Mexican adults.

    Science.gov (United States)

    Rojas-Martínez, Rosalba; Aguilar-Salinas, Carlos A; Jiménez-Corona, Aída

    2012-01-01

    To compare the waist circumference cutoff points established by the American Heart Association and the National Heart, Lung and Blood Institute (AHA/NHLBI) with those of the International Diabetes Federation (IDF) for the screening of diabetes, hypertension, and metabolic syndrome in Mexican adults. This study comprised a subsample of the ENSANUT 2006. Subjects without diabetes and hypertension and non-pregnant women were included. Sensitivity, specificity, and predictive values were compared using AUC and the positive likelihood ratio test [LR(+)]. In subjects aged ≥40 years, sensitivity for detection of diabetes and hypertension was higher for the IDF thresholds (85.34 and 86.87%, respectively) compared with those of the AHA/NHLBI (59.49 and 52.41%, respectively). LR(+) were higher for IDF thresholds compared with AHA/NHLBI. Similar results in subjects aged ≥65 years were observed. The measurement of abdominal obesity defined by the IDF was a better screening tool for diabetes and hypertension, considering that initially a high sensitivity and low cost tool at population level is required.

  20. 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 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.

  1. Hypertriglyceridemic waist - a simple clinical tool to detect cardiometabolic risk: comparison with harmonized definition of metabolic syndrome.

    Science.gov (United States)

    Vaverková, H; Karásek, D; Novotný, D; Halenka, M; Orság, J; Slavík, L

    2015-01-01

    With the increasing prevalence of obesity and especially abdominal obesity, a simple clinical tool is needed that identifies the cardiometabolic risk for cardiovascular disease and type 2 diabetes. The aim of our study was to evaluate a broad spectrum of metabolic variables and IMT in subjects with and without hypertriglyceridemic waist (HTGW) and compare it with the harmonized definition of metabolic syndrome (MS) with both a higher (MS-I) and lower waist circumference (MS-II) for Europids. We enrolled 607 asymptomatic dyslipidemic subjects (295 men and 312 women) into our cross-sectional study. The subjects with HTGW had an atherogenic lipid profile (significantly higher triglycerides, AIP, non-HDL-C, lower HDL-C and ApoA-1, and the women also higher TC and ApoB), increased markers of insulin resistance (insulin, HOMA, C-peptide, proinsulin), inflammation (hsCRP), thrombosis (fibrinogen, PAI-1), SBP and DBP, and lower adiponectin (prisk factors were entirely similar in HTGW, MS-I and MS-II. Age-adjusted IMT was significantly higher only in the women with HTGW but this significance disappeared after further adjustment for TC, SBP, and smoking. Our results support the routine use of HTGW as a simple and inexpensive screening tool to detect subjects at increased cardiometabolic risk in clinical practice.

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

    Science.gov (United States)

    Lux, Robert L; Sower, Christopher Todd; Allen, Nancy; Etheridge, Susan P; Tristani-Firouzi, Martin; Saarel, Elizabeth V

    2014-01-01

    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). 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. 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. 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.

  3. A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.

    Science.gov (United States)

    Cannon, Brian; Pan, Cynthia; Chen, Liangjing; Hadd, Andrew G; Russell, Rick

    2013-01-01

    Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene. To detect expanded CGG repeats, we developed a dual-mode single-molecule fluorescence assay that allows acquisition of two parallel, independent measures of repeat number based on (1) the number of Cy3-labeled probes bound to the repeat region and (2) the physical length of the electric field-linearized repeat region, obtained from the relative position of a single Cy5 dye near the end of the repeat region. Using target strands derived from cell-line DNA with defined numbers of CGG repeats, we show that this assay can rapidly and simultaneously measure the repeats of a collection of individual sample strands within a single field of view. With a low occurrence of false positives, the assay differentiated normal CGG repeat lengths (CGG( N ), N = 23) and expanded CGG repeat lengths (CGG( N ), N = 118), representing a premutation disease state. Further, mixtures of these DNAs gave results that correlated with their relative populations. This strategy may be useful for identifying heterozygosity or for screening collections of individuals, and it is readily adaptable for screening other repeat disorders.

  4. 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.

  5. The classification of oximetry signals using Bayesian neural networks to assist in the detection of obstructive sleep apnoea syndrome

    International Nuclear Information System (INIS)

    Marcos, J V; Hornero, R; Álvarez, D; Nabney, I T; Del Campo, F; Zamarrón, C

    2010-01-01

    In the present study, multilayer perceptron (MLP) neural networks were applied to help in the diagnosis of obstructive sleep apnoea syndrome (OSAS). Oxygen saturation (SaO 2 ) recordings from nocturnal pulse oximetry were used for this purpose. We performed time and spectral analysis of these signals to extract 14 features related to OSAS. The performance of two different MLP classifiers was compared: maximum likelihood (ML) and Bayesian (BY) MLP networks. A total of 187 subjects suspected of suffering from OSAS took part in the study. Their SaO 2 signals were divided into a training set with 74 recordings and a test set with 113 recordings. BY-MLP networks achieved the best performance on the test set with 85.58% accuracy (87.76% sensitivity and 82.39% specificity). These results were substantially better than those provided by ML-MLP networks, which were affected by overfitting and achieved an accuracy of 76.81% (86.42% sensitivity and 62.83% specificity). Our results suggest that the Bayesian framework is preferred to implement our MLP classifiers. The proposed BY-MLP networks could be used for early OSAS detection. They could contribute to overcome the difficulties of nocturnal polysomnography (PSG) and thus reduce the demand for these studies

  6. Detection of Severe Fever with Thrombocytopenia Syndrome Virus from Wild Animals and Ixodidae Ticks in the Republic of Korea.

    Science.gov (United States)

    Oh, Sung-Suck; Chae, Jeong-Byoung; Kang, Jun-Gu; Kim, Heung-Chul; Chong, Sung-Tae; Shin, Jeong-Hwa; Hur, Moon-Suk; Suh, Jae-Hwa; Oh, Myoung-Don; Jeong, Soo-Myoung; Shin, Nam-Shik; Choi, Kyoung-Seong; Chae, Joon-Seok

    2016-06-01

    Severe fever with thrombocytopenia syndrome (SFTS) is caused by SFTS virus (SFTSV), a novel bunyavirus reported to be endemic to central-northeastern China, southern Japan, and the Republic of Korea (ROK). To investigate SFTSV infections, we collected serum samples and ticks from wild animals. Using serum samples and ticks, SFTSV-specific genes were amplified by one-step RT-PCR and nested PCR and sequenced. Indirect immunofluorescence assay (IFA) was performed to analyze virus-specific antibody levels in wild animals. Serum samples were collected from a total of 91 animals: 21 Korean water deer (KWD), 3 Siberian roe deer, 5 gorals, 7 raccoon dogs, 54 wild boars (WBs), and 1 carrion crow. The SFTSV infection rate in wild animals was 3.30% (3 of 91 animals: 1 KWD and 2 WBs). The seropositive rate was 6.59% (6 of 91 animals: 5 KWD and 1 WB). A total of 891 ticks (3 species) were collected from 65 wild animals (9 species). Of the attached tick species, Haemaphysalis longicornis (74.86%) was the most abundant, followed by Haemaphysalis flava (20.20%) and Ixodes nipponensis (4.94%). The average minimum infection rate (MIR) of SFTSV in ticks was 4.98%. The MIRs of H. longicornis, H. flava, and I. nipponensis were 4.51%, 2.22%, and 22.73%, respectively. The MIRs of larvae, nymphs, and adult ticks were 0.68%, 6.88%, and 5.53%, respectively. In addition, the MIRs of fed and unfed ticks were 4.67% and 4.96%, respectively. We detected a low SFTSV infection rate in wild animals, no differences in SFTSV infection rate with respect to bloodsucking in ticks, and SFTSV infection for all developmental stages of ticks. This is the first report describing the detection of SFTSV in wild animals in the ROK.

  7. Defining the Human Macula Transcriptome and Candidate Retinal Disease Genes UsingEyeSAGE

    Science.gov (United States)

    Rickman, Catherine Bowes; Ebright, Jessica N.; Zavodni, Zachary J.; Yu, Ling; Wang, Tianyuan; Daiger, Stephen P.; Wistow, Graeme; Boon, Kathy; Hauser, Michael A.

    2009-01-01

    Purpose To develop large-scale, high-throughput annotation of the human macula transcriptome and to identify and prioritize candidate genes for inherited retinal dystrophies, based on ocular-expression profiles using serial analysis of gene expression (SAGE). Methods Two human retina and two retinal pigment epithelium (RPE)/choroid SAGE libraries made from matched macula or midperipheral retina and adjacent RPE/choroid of morphologically normal 28- to 66-year-old donors and a human central retina longSAGE library made from 41- to 66-year-old donors were generated. Their transcription profiles were entered into a relational database, EyeSAGE, including microarray expression profiles of retina and publicly available normal human tissue SAGE libraries. EyeSAGE was used to identify retina- and RPE-specific and -associated genes, and candidate genes for retina and RPE disease loci. Differential and/or cell-type specific expression was validated by quantitative and single-cell RT-PCR. Results Cone photoreceptor-associated gene expression was elevated in the macula transcription profiles. Analysis of the longSAGE retina tags enhanced tag-to-gene mapping and revealed alternatively spliced genes. Analysis of candidate gene expression tables for the identified Bardet-Biedl syndrome disease gene (BBS5) in the BBS5 disease region table yielded BBS5 as the top candidate. Compelling candidates for inherited retina diseases were identified. Conclusions The EyeSAGE database, combining three different gene-profiling platforms including the authors’ multidonor-derived retina/RPE SAGE libraries and existing single-donor retina/RPE libraries, is a powerful resource for definition of the retina and RPE transcriptomes. It can be used to identify retina-specific genes, including alternatively spliced transcripts and to prioritize candidate genes within mapped retinal disease regions. PMID:16723438

  8. Antiphospholipid antibodies detected by line immunoassay differentiate among patients with antiphospholipid syndrome, with infections and asymptomatic carriers.

    Science.gov (United States)

    Roggenbuck, Dirk; Borghi, Maria Orietta; Somma, Valentina; Büttner, Thomas; Schierack, Peter; Hanack, Katja; Grossi, Claudia; Bodio, Caterina; Macor, Paolo; von Landenberg, Philipp; Boccellato, Francesco; Mahler, Michael; Meroni, Pier Luigi

    2016-05-21

    Antiphospholipid antibodies (aPL) can be detected in asymptomatic carriers and infectious patients. The aim was to investigate whether a novel line immunoassay (LIA) differentiates between antiphospholipid syndrome (APS) and asymptomatic aPL+ carriers or patients with infectious diseases (infectious diseases controls (IDC)). Sixty-one patients with APS (56 primary, 22/56 with obstetric events only, and 5 secondary), 146 controls including 24 aPL+ asymptomatic carriers and 73 IDC were tested on a novel hydrophobic solid phase coated with cardiolipin (CL), phosphatic acid, phosphatidylcholine, phosphatidylethanolamine, phosphatidylglycerol, phosphatidylinositol, phosphatidylserine, beta2-glycoprotein I (β2GPI), prothrombin, and annexin V. Samples were also tested by anti-CL and anti-β2GPI ELISAs and for lupus anticoagulant activity. Human monoclonal antibodies (humoAbs) against human β2GPI or PL alone were tested on the same LIA substrates in the absence or presence of human serum, purified human β2GPI or after CL-micelle absorption. Comparison of LIA with the aPL-classification assays revealed good agreement for IgG/IgM aß2GPI and aCL. Anti-CL and anti-ß2GPI IgG/IgM reactivity assessed by LIA was significantly higher in patients with APS versus healthy controls and IDCs, as detected by ELISA. IgG binding to CL and ß2GPI in the LIA was significantly lower in aPL+ carriers and Venereal Disease Research Laboratory test (VDRL) + samples than in patients with APS. HumoAb against domain 1 recognized β2GPI bound to the LIA-matrix and in anionic phospholipid (PL) complexes. Absorption with CL micelles abolished the reactivity of a PL-specific humoAb but did not affect the binding of anti-β2GPI humoAbs. The LIA and ELISA have good agreement in detecting aPL in APS, but the LIA differentiates patients with APS from infectious patients and asymptomatic carriers, likely through the exposure of domain 1.

  9. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability

    Directory of Open Access Journals (Sweden)

    Sireteanu Adriana

    2014-06-01

    Full Text Available Dizabilitatea intelectuală (DI este o afecțiune frecventă, cu consecințe majore pentru individ, familie și societate. Datorită heterogenității sale clinice și genetice, în aproximativ 50% din cazuri etiologia bolii nu poate fi stabilită. Scopul acestui studiu a fost evaluarea capacității de stabilire a diagnosticului etiologic la 369 pacienți cu DI sindromic și rezultat normal sau incert la cariotip folosind o combinație de kituri MLPA. Toţi pacienţii au fost investigaţi prin metoda MLPA, folosind fie kiturile SALSA MLPA P064 sau P096, dacă fenotipul a fost sugestiv pentru un sindrom cu microdeleţie (subgrupul A - 186 pacienți, fie kiturile subtelomerice P036 și P070, dacă fenotipul nu a fost sugestiv pentru un sindrom cu microdeleţie sau rezultatul la cariotipul standard a fost incert (subgrupul B - 183 pacienți. Rezultatele anormale detectate de aceste kituri au fost caracterizate folosind kiturile MLPA corespunzătoare de urmărire (Telomere Follow-up set, P029-A1, P250-B2, ME028-B1. În subgrupul A am identificat 25 de pacienți cu microdeleții (13,4%. Folosind kiturile de screening subtelomeric și de urmărire la subgrupul B am detectat rearanjări criptice în 7,5% din cazuri și am identificat originea materialului suplimentar observat la cariotipul standard la 10 din 11 pacienți. Sumarizând datele obţinute din cele două loturi, folosirea combinată a seturilor MLPA a dus la stabilirea diagnosticului la 10,6% (38/358 dintre pacienții cu cariotip normal. Folosirea seturilor MLPA de urmărire a permis atât confirmarea prezenţei anomaliei, cât şi determinarea dimensiunii ei, ceea ce a facilitat interpretarea semnificaţiei clinice a rearanjărilor. Pentru laboratoarele care nu au acces la tehnologiile bazate pe microarray, folosirea mai multor kituri MLPA reprezintă o strategie eficientă pentru stabilirea diagnosticului etiologic la pacienţii cu DI.

  10. Feasibility and diagnostic utility of video capsule endoscopy for the detection of small bowel polyps in patients with hereditary polyposis syndromes.

    Science.gov (United States)

    Schulmann, Karsten; Hollerbach, Stephan; Kraus, Katja; Willert, Jörg; Vogel, Tilman; Möslein, Gabriela; Pox, Christian; Reiser, Markus; Reinacher-Schick, Anke; Schmiegel, Wolff

    2005-01-01

    At present, surveillance of premalignant small bowel polyps in hereditary polyposis syndromes has a number of limitations. Capsule endoscopy (CE) is a promising new method to endoscopically assess the entire length of the small bowel. We prospectively examined 40 patients with hereditary polyposis syndromes (29 familial adenomatous polyposis (FAP), 11 Peutz-Jeghers syndrome (PJS)). Results were compared with push-enteroscopy (PE) results in FAP and with esophagogastroduodenoscopy, PE, (MR)-enteroclysis, and surgical specimen in PJS patients. A total of 76% of the patients with FAP with duodenal adenomas (n = 21) had additional adenomas in the proximal jejunum that could be detected by CE and PE. Moreover, 24% of these FAP patients had further polyps in the distal jejunum or ileum that could only be detected by CE. In contrast, in FAP patients without duodenal polyps (n = 8), jejunal or ileal polyps occurred rarely (12%). CE detected polyps in 10 of 11 patients with PJS, a rate superior to all other reference procedures employed. Importantly, the findings of CE had immediate impact on further clinical management in all PJS patients. Our results suggest that CE may be of clinical value in selected patients with FAP, whereas in PJS, CE could be used as first line surveillance procedure.

  11. Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome.

    Science.gov (United States)

    Kou, K O; Poon, C F; Kwok, S L; Chan, K Yk; Tang, M Hy; Kan, A Sy; Leung, K Y

    2016-06-01

    In Hong Kong, universal combined first-trimester screening for Down's syndrome was started as a 'free service' in July 2010. Non-invasive prenatal testing was available as a self-financed item in August 2011. This study aimed to determine whether the introduction of non-invasive prenatal testing as a contingent approach influenced the indications for invasive prenatal diagnosis and the consequent prenatal detection of Down's syndrome. This historical cohort study was conducted at the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital in Hong Kong. We compared the indications for invasive prenatal diagnosis and prenatal detection of Down's syndrome in singleton pregnancies 1 year before and 2 years following the availability of non-invasive prenatal testing as a contingent test after a positive aneuploidy test. All pregnant women who attended our hospital for counselling about universal Down's syndrome screening between August 2010 and July 2013 were recruited. A total of 16 098 women were counselled. After the introduction of non-invasive prenatal testing, the invasive prenatal diagnosis rate for a positive aneuploidy screening reduced from 77.7% in 2010-11 to 68.8% in 2012-13. The new combined conventional plus non-invasive prenatal testing strategy was associated with a lower false-positive rate (6.9% in 2010-11 vs 5.2% in 2011-12 and 4.9% in 2012-13). There was no significant increase in invasive prenatal diagnosis for structural anomalies over the years. There was no significant trend in the overall prenatal detection rate of Down's syndrome (100% 1 year before vs 89.1% 2 years after introduction of non-invasive prenatal testing). Four (2.6%) of 156 women who underwent non-invasive prenatal testing for a screen-positive result had a high-risk result for trisomy 21, which was subsequently confirmed by invasive prenatal diagnosis. There were no false-negative cases. The introduction of non-invasive prenatal testing as a contingent approach reduced the invasive

  12. Tomographic phase analysis to detect the site of accessory conduction pathway in Wolff-Parkinson-White syndrome

    International Nuclear Information System (INIS)

    Nakajima, K.; Bunko, H.; Tada, A.; Tonami, N.; Taki, J.; Nanbu, I.; Hisada, K.; Misaki, T.; Iwa, T.

    1984-01-01

    Phase analysis has been applied to Wolff-Parkinson-White syndrome (WPW) to detect the site of accessory conduction pathway (ACP); however, there was a limitation to estimate the precise location of ACP by planar phase analysis. In this study, the authors applied phase analysis to gated blood pool tomography. Twelve patients with WPW who underwent epicardial mapping and surgical division of ACP were studied by both of gated emission computed tomography (GECT) and routine gated blood pool study (GBPS). The GBPS was performed with Tc-99m red blood cells in multiple projections; modified left anterior oblique, right anterior oblique and/or left lateral views. In GECT, short axial, horizontal and vertical long axial blood pool images were reconstructed. Phase analysis was performed using fundamental frequency of the Fourier transform in both GECT and GBPS images, and abnormal initial contractions on both the planar and tomographic phase analysis were compared with the location of surgically confirmed ACPs. In planar phase analysis, abnormal initial phase was identified in 7 out of 12 (58%) patients, while in tomographic phase analysis, the localization of ACP was predicted in 11 out of 12 (92%) patients. Tomographic phase analysis is superior to planar phase images in 8 out of 12 patients to estimate the location of ACP. Phase analysis by GECT can avoid overlap of blood pool in cardiac chambers and has advantage to identify the propagation of phase three-dimensionally. Tomographic phase analysis is a good adjunctive method for patients with WPW to estimate the site of ACP

  13. [A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].

    Science.gov (United States)

    Hu, Jian-cheng; Tan, Ke; Cheng, De-hua; Li, Lu-yun; Lu, Guang-xiu; Tan, Yue-qiu

    2013-02-01

    To determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family. High-resolution GTG banding was performed to analyze the patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 18pter, 18qter, and whole chromosome painting probe 18 was performed to analyze the patient and his parents. In addition, single nucleotide polymorphism-based arrays (SNP-Array) analysis with Affymetrix GeneChip Genome-wide Human SNP Nsp/Sty 6.0 were also performed to analyze the patient. Karyotype analysis indicated that the patient has carried a terminal deletion in 5p. FISH with Cri du Chat syndrome region probe confirmed that D5S23 and D5S721 loci are deleted. SNP-Array has detected a 15 Mb deletion at 5p and a 2 Mb duplication at 18p. FISH with 5p subtelomeric probes and 18p subtelomeric probe further confirmed that the derivative chromosome 5 has derived from a translocation between 5p and 18p, which has given rise to a 46,XY,der(5)t(5;18)(p15.1;p11.31)dn karyotype. A de novo 5p partial deletion in conjunction with a cryptic 18p duplication has been detected in a boy featuring Cri-du-Chat syndrome. His parents, both with negative findings, have a low recurrence risk. For its ability to detect chromosomal imbalance, SNP-Array has a great value for counseling of similar patients and assessment of recurrence risks.

  14. Evaluation of a continuous indicator for syndromic surveillance through simulation. application to vector borne disease emergence detection in cattle using milk yield.

    Directory of Open Access Journals (Sweden)

    Aurélien Madouasse

    Full Text Available 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

  15. 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.

  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.

  17. Detection of DNA repair protein in colorectal cancer of patients up to 50 years old can increase the identification of Lynch syndrome?

    Science.gov (United States)

    Germini, Demétrius Eduardo; Mader, Ana Maria Amaral Antônio; Gomes, Luiz Guilherme Lisboa; Teodoro, Thérèse Rachel; Franco, Maria Isete Fares; Waisberg, Jaques

    2016-02-01

    The aim of this study was to compare the results of protein level of the DNA mismatch repair genes with the clinical diagnosis of Lynch syndrome according to the Amsterdam II criteria in patients 50 years and younger who underwent surgery for colorectal cancer. The subjects of analysis were 48 patients 50 years old and younger. Immunohistochemistry assays were performed to detect proteins from the DNA mismatch repair genes. Clinicopathological data and Amsterdam II criteria for the diagnosis of hereditary nonpolyposis colorectal cancer were obtained by analyzing medical records. Two (4 %) patients satisfied the Amsterdam II criteria for Lynch syndrome, and both presented levels of all of the studied mismatch repair proteins. A total of 13 (27 %) patients exhibited the absence of protein levels of the studied mismatch repair genes. None of these patients were considered suspicious for Lynch syndrome according to the Amsterdam II criteria. Screening for the level of proteins of the mismatch repair system in all colorectal cancer patients 50 years and younger can increase the identification of patients with suspicion of Lynch syndrome.

  18. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

    Science.gov (United States)

    Rajan-Babu, Indhu-Shree; Lian, Mulias; Cheah, Felicia S H; Chen, Min; Tan, Arnold S C; Prasath, Ethiraj B; Loh, Seong Feei; Chong, Samuel S

    2017-07-19

    Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all 'embryos'. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

  19. Impact of a shift in nuchal translucency measurements on the detection rate of first-trimester Down syndrome screening: A population-based study.

    Science.gov (United States)

    Fries, Nicolas; Salomon, Laurent J; Muller, Françoise; Dreux, Sophie; Houfflin-Debarge, Véronique; Coquel, Philippe; Kleinfinger, Pascale; Dommergues, Marc

    2018-01-01

    To assess the distribution of nuchal translucency (NT) measurements following a national policy without credentialing and its impact on first-trimester Down syndrome screening (DSS) detection rate. All first-trimester DSS data recorded in France (2010-2014) were collected by the laboratories in charge via an Internet database (https://www.bionuqual.org/echo.php). There was no minimal requirement for image quality to allow sonographers to enter the screening process. A subgroup of DSS with complete DS follow-up corresponded to 1614 sonographers. Based on the distribution of maternal age, DS detection rate was calculated and split as a function of the distribution of NT multiple of the median (MoM). Four thousand nine hundred forty-three sonographers performed 2,337,372 NT measurements. Median NT expressed in MoM was 0.83. Screenings with complete follow-up consisted of 197,417 screenings, in which DSS detection rates were respectively 70.4%, 70.9%, 79.4%, 87.7%, and 79.5% for the following median NT MoM ranges: 0.99 (trend χ = 12.21; P = .0158). In France, following a policy of quality assessment without standardized credentialing, the distribution of NT measurements did not fit the expected distribution. Down syndrome detection rate was 10% lower in screenings by sonographers with a median NT < 0.80 MoM. © 2017 John Wiley & Sons, Ltd.

  20. 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.

  1. Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA){sub n} dinucleotide repeat polymorphisms

    Energy Technology Data Exchange (ETDEWEB)

    Lerer, I.; Meiner, V.; Pashut-Lavon, I.; Abeliovich, D.

    1994-08-01

    We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA){sub n} dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by the segregation of (CA){sub n}, probably due to paternal microdeletion in the PWs critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS. 31 refs., 2 figs., 3 tabs.

  2. 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

    sequence and previously unknown intron sequences flanking exons 2 and 37 of COL4A5 were determined. Furthermore, intron sequences flanking the other 49 exons were expanded from 35 to 190 to facilitate mutation analysis of the gene. Using this information, all 51 exons and the promoter region were PCR......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......-amplified and sequenced from DNA of 50 randomly chosen patients with suspected Alport syndrome. Mutations were found in 41 patients, giving a mutation detection rate of 82%. Retrospective analysis of clinical data revealed that two of the cases might be autosomal. Although it could not be determined whether the remaining...

  3. An Early Warning System Based on Syndromic Surveillance to Detect Potential Health Emergencies among Migrants: Results of a Two-Year Experience in Italy

    Directory of Open Access Journals (Sweden)

    Christian Napoli

    2014-08-01

    Full Text Available Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to southern Europe, especially to Italy. To respond to the humanitarian emergency triggered by this migration surge, Italy implemented a syndromic surveillance system in order to rapidly detect potential public health emergencies in immigrant reception centres. This system was discontinued after two years. This paper presents the results of this experience detailing its strengths and weaknesses in order to document the applicability and usefulness of syndromic surveillance in this specific context.

  4. An Early Warning System Based on Syndromic Surveillance to Detect Potential Health Emergencies among Migrants: Results of a Two-Year Experience in Italy

    Science.gov (United States)

    Napoli, Christian; Riccardo, Flavia; Declich, Silvia; Dente, Maria Grazia; Pompa, Maria Grazia; Rizzo, Caterina; Rota, Maria Cristina; Bella, Antonino

    2014-01-01

    Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to southern Europe, especially to Italy. To respond to the humanitarian emergency triggered by this migration surge, Italy implemented a syndromic surveillance system in order to rapidly detect potential public health emergencies in immigrant reception centres. This system was discontinued after two years. This paper presents the results of this experience detailing its strengths and weaknesses in order to document the applicability and usefulness of syndromic surveillance in this specific context. PMID:25140999

  5. 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

    2016-01-18

    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. Systematic review and meta-analysis of published studies. PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015. 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. 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. 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. CRD42014014947. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  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. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

    Science.gov (United States)

    Horváth, Emese; Horváth, Zsuzsanna; Isaszegi, Dóra; Gergev, Gyurgyinka; Nagy, Nikoletta; Szabó, János; Sztriha, László; Széll, Márta; Endreffy, Emőke

    2013-09-08

    Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. This study reports the earliest diagnosed angelman syndrome in a 16-month-old Hungarian child. Cytogenetic results suggested a de novo Robertsonian-like translocation involving both q arms of chromosome 15: 45,XY,der(15;15)(q10;q10). Molecular genetic studies with polymorphic short tandem repeat markers of the fibrillin-1 gene, located in the 15q21.1, revealed that both arms of the translocated chromosome were derived from a single paternal chromosome 15 (isodisomy) and led to the diagnosis of angelman syndrome caused by paternal uniparental disomy. AS resulting from paternal uniparental disomy caused by de novo balanced translocation t(15q;15q) of a single paternal chromosome has been reported by other groups. This paper reviews 19 previously published comparable cases of the literature. Our paper contributes to the deeper understanding of the phenotype-genotype correlation in angelman syndrome for non-deletion subclasses and suggests that patients with uniparental disomy have milder symptoms and higher BMI than the ones with other underlying genetic abnormalities.

  8. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

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

  9. Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol.

    Science.gov (United States)

    Taylor, Natalie; Long, Janet C; Debono, Deborah; Williams, Rachel; Salisbury, Elizabeth; O'Neill, Sharron; Eykman, Elizabeth; Braithwaite, Jeffrey; Chin, Melvin

    2016-03-12

    Lynch syndrome is an inherited disorder associated with a range of cancers, and found in 2-5 % of colorectal cancers. Lynch syndrome is diagnosed through a combination of significant family and clinical history and pathology. The definitive diagnostic germline test requires formal patient consent after genetic counselling. If diagnosed early, carriers of Lynch syndrome can undergo increased surveillance for cancers, which in turn can prevent late stage cancers, optimise treatment and decrease mortality for themselves and their relatives. However, over the past decade, international studies have reported that only a small proportion of individuals with suspected Lynch syndrome were referred for genetic consultation and possible genetic testing. The aim of this project is to use behaviour change theory and implementation science approaches to increase the number and speed of healthcare professional referrals of colorectal cancer patients with a high-likelihood risk of Lynch syndrome to appropriate genetic counselling services. The six-step Theoretical Domains Framework Implementation (TDFI) approach will be used at two large, metropolitan hospitals treating colorectal cancer patients. Steps are: 1) form local multidisciplinary teams to map current referral processes; 2) identify target behaviours that may lead to increased referrals using discussion supported by a retrospective audit; 3) identify barriers to those behaviours using the validated Influences on Patient Safety Behaviours Questionnaire and TDFI guided focus groups; 4) co-design interventions to address barriers using focus groups; 5) co-implement interventions; and 6) evaluate intervention impact. Chi square analysis will be used to test the difference in the proportion of high-likelihood risk Lynch syndrome patients being referred for genetic testing before and after intervention implementation. A paired t-test will be used to assess the mean time from the pathology test results to referral for high

  10. 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

    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...... cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. CONCLUSIONS: There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors...

  11. Gorlin syndrome

    African Journals Online (AJOL)

    develop medulloblastomas and are treated with radiation, it is mandatory that they be monitored for the development of BCCs in the radiation field. Management of a patient or family with this syndrome should include genetic counselling and neurological evaluations to detect medulloblastoma until the age of 7, after which ...

  12. Correcting for day of the week and public holiday effects: improving a national daily syndromic surveillance service for detecting public health threats

    Directory of Open Access Journals (Sweden)

    Elizabeth Buckingham-Jeffery

    2017-05-01

    Full Text Available Abstract Background As service provision and patient behaviour varies by day, healthcare data used for public health surveillance can exhibit large day of the week effects. These regular effects are further complicated by the impact of public holidays. Real-time syndromic surveillance requires the daily analysis of a range of healthcare data sources, including family doctor consultations (called general practitioners, or GPs, in the UK. Failure to adjust for such reporting biases during analysis of syndromic GP surveillance data could lead to misinterpretations including false alarms or delays in the detection of outbreaks. The simplest smoothing method to remove a day of the week effect from daily time series data is a 7-day moving average. Public Health England developed the working day moving average in an attempt also to remove public holiday effects from daily GP data. However, neither of these methods adequately account for the combination of day of the week and public holiday effects. Methods The extended working day moving average was developed. This is a further data-driven method for adding a smooth trend curve to a time series graph of daily healthcare data, that aims to take both public holiday and day of the week effects into account. It is based on the assumption that the number of people seeking healthcare services is a combination of illness levels/severity and the ability or desire of patients to seek healthcare each day. The extended working day moving average was compared to the seven-day and working day moving averages through application to data from two syndromic indicators from the GP in-hours syndromic surveillance system managed by Public Health England. Results The extended working day moving average successfully smoothed the syndromic healthcare data by taking into account the combined day of the week and public holiday effects. In comparison, the seven-day and working day moving averages were unable to account for all

  13. Correcting for day of the week and public holiday effects: improving a national daily syndromic surveillance service for detecting public health threats.

    Science.gov (United States)

    Buckingham-Jeffery, Elizabeth; Morbey, Roger; House, Thomas; Elliot, Alex J; Harcourt, Sally; Smith, Gillian E

    2017-05-19

    As service provision and patient behaviour varies by day, healthcare data used for public health surveillance can exhibit large day of the week effects. These regular effects are further complicated by the impact of public holidays. Real-time syndromic surveillance requires the daily analysis of a range of healthcare data sources, including family doctor consultations (called general practitioners, or GPs, in the UK). Failure to adjust for such reporting biases during analysis of syndromic GP surveillance data could lead to misinterpretations including false alarms or delays in the detection of outbreaks. The simplest smoothing method to remove a day of the week effect from daily time series data is a 7-day moving average. Public Health England developed the working day moving average in an attempt also to remove public holiday effects from daily GP data. However, neither of these methods adequately account for the combination of day of the week and public holiday effects. The extended working day moving average was developed. This is a further data-driven method for adding a smooth trend curve to a time series graph of daily healthcare data, that aims to take both public holiday and day of the week effects into account. It is based on the assumption that the number of people seeking healthcare services is a combination of illness levels/severity and the ability or desire of patients to seek healthcare each day. The extended working day moving average was compared to the seven-day and working day moving averages through application to data from two syndromic indicators from the GP in-hours syndromic surveillance system managed by Public Health England. The extended working day moving average successfully smoothed the syndromic healthcare data by taking into account the combined day of the week and public holiday effects. In comparison, the seven-day and working day moving averages were unable to account for all these effects, which led to misleading smoothing

  14. Recombinant protein-based assays for detection of antibodies to severe acute respiratory syndrome coronavirus spike and nucleocapsid proteins.

    Science.gov (United States)

    Haynes, Lia M; Miao, Congrong; Harcourt, Jennifer L; Montgomery, Joel M; Le, Mai Quynh; Dryga, Sergey A; Kamrud, Kurt I; Rivers, Bryan; Babcock, Gregory J; Oliver, Jennifer Betts; Comer, James A; Reynolds, Mary; Uyeki, Timothy M; Bausch, Daniel; Ksiazek, Thomas; Thomas, William; Alterson, Harold; Smith, Jonathan; Ambrosino, Donna M; Anderson, Larry J

    2007-03-01

    Recombinant severe acute respiratory syndrome (SARS) nucleocapsid and spike protein-based immunoglobulin G immunoassays were developed and evaluated. Our assays demonstrated high sensitivity and specificity to the SARS coronavirus in sera collected from patients as late as 2 years postonset of symptoms. These assays will be useful not only for routine SARS coronavirus diagnostics but also for epidemiological and antibody kinetic studies.

  15. 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

    of type IV-collagen. We performed mutation analysis of the COL4A5 gene by PCR-SSCP analysis of each of the 51 exons with flanking intronic sequences in 81 patients suspected of X-linked Alport syndrome including 29 clear X-linked cases, 37 cases from families with a pedigree compatible with X...

  16. 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...

  17. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  18. 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

  19. 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.

  20. Inspecting Targeted Deep Sequencing of Whole Genome Amplified DNA Versus Fresh DNA for Somatic Mutation Detection: A Genetic Study in Myelodysplastic Syndrome Patients.

    Science.gov (United States)

    Palomo, Laura; Fuster-Tormo, Francisco; Alvira, Daniel; Ademà, Vera; Armengol, María Pilar; Gómez-Marzo, Paula; de Haro, Nuri; Mallo, Mar; Xicoy, Blanca; Zamora, Lurdes; Solé, Francesc

    2017-08-01

    Whole genome amplification (WGA) has become an invaluable method for preserving limited samples of precious stock material and has been used during the past years as an alternative tool to increase the amount of DNA before library preparation for next-generation sequencing. Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders characterized by presenting somatic mutations in several myeloid-related genes. In this work, targeted deep sequencing has been performed on four paired fresh DNA and WGA DNA samples from bone marrow of MDS patients, to assess the feasibility of using WGA DNA for detecting somatic mutations. The results of this study highlighted that, in general, the sequencing and alignment statistics of fresh DNA and WGA DNA samples were similar. However, after variant calling and when considering variants detected at all frequencies, there was a high level of discordance between fresh DNA and WGA DNA (overall, a higher number of variants was detected in WGA DNA). After proper filtering, a total of three somatic mutations were detected in the cohort. All somatic mutations detected in fresh DNA were also identified in WGA DNA and validated by whole exome sequencing.

  1. Innovative video capsule endoscopy for detection of ubiquitously elongated small intestinal villi in Cronkhite-Canada syndrome

    OpenAIRE

    Heinzow, Hauke Sebastian; Domschke, Wolfram; Meister, Tobias

    2013-01-01

    Cronkhite-Canada syndrome (CCS) is a rare non-familial disorder with multiple gastrointestinal polyps and ectodermal changes. Adenomatous and carcinomatous changes have been reported. Video capsule endoscopy is a useful non-invasive tool to reveal polypoid lesions of the gastrointestinal tract suspicious for malignancy. We report a case of a patient with CCS with excessively elongated intestinal villi resembling dense sea grass under water as well as multiple polyps of the intestinal mucosa r...

  2. Recombinant Protein-Based Assays for Detection of Antibodies to Severe Acute Respiratory Syndrome Coronavirus Spike and Nucleocapsid Proteins▿

    Science.gov (United States)

    Haynes, Lia M.; Miao, Congrong; Harcourt, Jennifer L.; Montgomery, Joel M.; Le, Mai Quynh; Dryga, Sergey A.; Kamrud, Kurt I.; Rivers, Bryan; Babcock, Gregory J.; Oliver, Jennifer Betts; Comer, James A.; Reynolds, Mary; Uyeki, Timothy M.; Bausch, Daniel; Ksiazek, Thomas; Thomas, William; Alterson, Harold; Smith, Jonathan; Ambrosino, Donna M.; Anderson, Larry J.

    2007-01-01

    Recombinant severe acute respiratory syndrome (SARS) nucleocapsid and spike protein-based immunoglobulin G immunoassays were developed and evaluated. Our assays demonstrated high sensitivity and specificity to the SARS coronavirus in sera collected from patients as late as 2 years postonset of symptoms. These assays will be useful not only for routine SARS coronavirus diagnostics but also for epidemiological and antibody kinetic studies. PMID:17229882

  3. 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.

  4. Pilot simulation study using meat inspection data for syndromic surveillance: use of whole carcass condemnation of adult cattle to assess the performance of several algorithms for outbreak detection.

    Science.gov (United States)

    Dupuy, C; Morignat, E; Dorea, F; Ducrot, C; Calavas, D; Gay, E

    2015-09-01

    The objective of this study was to assess the performance of several algorithms for outbreak detection based on weekly proportions of whole carcass condemnations. Data from one French slaughterhouse over the 2005-2009 period were used (177 098 slaughtered cattle, 0.97% of whole carcass condemnations). The method involved three steps: (i) preparation of an outbreak-free historical baseline over 5 years, (ii) simulation of over 100 years of baseline time series with injection of artificial outbreak signals with several shapes, durations and magnitudes, and (iii) assessment of the performance (sensitivity, specificity, outbreak detection precocity) of several algorithms to detect these artificial outbreak signals. The algorithms tested included the Shewart p chart, confidence interval of the negative binomial model, the exponentially weighted moving average (EWMA); and cumulative sum (CUSUM). The highest sensitivity was obtained using a negative binomial algorithm and the highest specificity with CUSUM or EWMA. EWMA sensitivity was too low to select this algorithm for efficient outbreak detection. CUSUM's performance was complementary to the negative binomial algorithm. The use of both algorithms on real data for a prospective investigation of the whole carcass condemnation rate as a syndromic surveillance indicator could be relevant. Shewart could also be a good option considering its high sensitivity and simplicity of implementation.

  5. Development of a sensitive and specific immunological test for detecting pregnancy-associated plasma protein A in patients with acute coronary syndrome.

    Science.gov (United States)

    Zeng, Zhaowei; Wang, Xueqian

    2013-01-01

    Pregnancy-associated plasma protein A (PAPP-A) was first found in the serum of pregnant women and then found to be associated with acute coronary syndrome (ACS). Unfortunately, the sensitivity and specificity of current detection methods are poor, so the present work aimed to improve them. The successful detection of PAPP-A could be widely applicable clinically. We used affinity chromatography to purify the PAPP-A antigen, which was used to prepare the antibody. A biotin-avidin enzyme-linked immunosorbent assay (BA-ELISA) was developed to detect low levels of PAPP-A. Nonspecific reactions were excluded by using affinity chromatography and papain digestion to remove the Fc fragment of the antibody. The BA-ELISA method we developed was more sensitive than traditional ELISA, as all nonspecific reactions were excluded. Its sensitivity was 0.065 mIU/L and recovery of PAPP-A from samples was 98.51%. The specificity was also much better than with standard ELISA kits. Affinity chromatography and papain digestion have important effects on the assay specificity. The BA-ELISA method proved sensitive and nonspecific reactions were excluded. The method is easily carried out, so it is suitable for detecting PAPP-A in the serum of patients with ACS.

  6. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  7. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

    Science.gov (United States)

    Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

    2007-07-01

    To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

  8. Immunoblot for the detection of Ascaris suum-specific antibodies in patients with visceral larva migrans (VLM) syndrome.

    Science.gov (United States)

    Schneider, Renate; Obwaller, Andreas; Auer, Herbert

    2015-01-01

    Visceral larva migrans (VLM) syndrome caused by Toxocara canis larvae was first described in the 1950s. The role of other nematode larvae, i.e. the pig roundworm Ascaris suum as a causative agent of visceral larva migrans-associated symptoms like general malaise, cough, liver dysfunction, hypereosinophilia with hepatomegaly and/or pneumonia, was discussed controversially during the last decades. Recent serological screening studies for specific A. suum antibodies carried out in the Netherlands and Sweden yielded remarkable high seroprevalences, while a number of case reports from Japan report pulmonal, hepatic and cerebral symptoms caused by A. suum larvae after ingestion of infected raw meat (liver) or contaminated vegetables. We present here a sensitive and specific larval excretory-secretory (E/S) antigen-based immunoblot (As-IB) for the serodiagnosis of A. suum-infected patients suffering from symptoms associated to the VLM syndrome. In total, 34 sera from patients with hypereosinophilia and other clinical symptoms associated to the VLM syndrome tested negative for Toxocara sp. antibodies but positive in our newly established As-IB, 30 sera from healthy volunteers, 53 sera from patients with clinically and serologically confirmed toxocarosis and other helminthoses as well as 3 sera from patients with intestinal ascariosis due to Ascaris lumbricoides were included in the study. When evaluated with 30 sera from healthy volunteers and 53 sera from patients suffering from different helminthoses, the calculated specificity of our new As-IB is 95%. Problems hampering the establishment of simple serological screening tests for specific A. suum antibodies, like extensive antigenic similarities between the nematodes Ascaris and Toxocara or the absence of suitable experimental animals, are discussed. We assume that specific serological testing for antibodies of A. suum is very important for the treatment of individual patients on one hand and seroepidemiological

  9. Evaluation of outbreak detection performance using multi-stream syndromic surveillance for influenza-like illness in rural Hubei Province, China: a temporal simulation model based on healthcare-seeking behaviors.

    Directory of Open Access Journals (Sweden)

    Yunzhou Fan

    Full Text Available BACKGROUND: Syndromic surveillance promotes the early detection of diseases outbreaks. Although syndromic surveillance has increased in developing countries, performance on outbreak detection, particularly in cases of multi-stream surveillance, has scarcely been evaluated in rural areas. OBJECTIVE: This study introduces a temporal simulation model based on healthcare-seeking behaviors to evaluate the performance of multi-stream syndromic surveillance for influenza-like illness. METHODS: Data were obtained in six towns of rural Hubei Province, China, from April 2012 to June 2013. A Susceptible-Exposed-Infectious-Recovered model generated 27 scenarios of simulated influenza A (H1N1 outbreaks, which were converted into corresponding simulated syndromic datasets through the healthcare-behaviors model. We then superimposed converted syndromic datasets onto the baselines obtained to create the testing datasets. Outbreak performance of single-stream surveillance of clinic visit, frequency of over the counter drug purchases, school absenteeism, and multi-stream surveillance of their combinations were evaluated using receiver operating characteristic curves and activity monitoring operation curves. RESULTS: In the six towns examined, clinic visit surveillance and school absenteeism surveillance exhibited superior performances of outbreak detection than over the counter drug purchase frequency surveillance; the performance of multi-stream surveillance was preferable to signal-stream surveillance, particularly at low specificity (Sp <90%. CONCLUSIONS: The temporal simulation model based on healthcare-seeking behaviors offers an accessible method for evaluating the performance of multi-stream surveillance.

  10. Detection of genotype 1 Porcine Reproductive and Respiratory Syndrome virus in swine, using one-step Real-Time PCR for the ORF7 gene

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    Mihaela Zaulet

    2014-10-01

    Full Text Available Porcine Reproductive and Respiratory Syndrome (PRRS is the most devastating and economically challenging disease to the swine industry worldwide due to reproductive failure. The main objective of the current study was to evaluate the sensitivity and accuracy of Real-Time RT-PCR method in the detection of PRRS virus and also estimation of the pathogen load in samples with clinical signs. The primers used for the detection of PRRS virus were represented by primers with a specific sequence for the ORF7 gene of the PRRS virus. More important, the primers attachment process was influenced by punctual mutations of the viral strand belonging to the ORF7 gene. 114 samples were tested to identify the presence of PRRS virus, genotype I and 14 of them were found to be positive, using OneStep PCR. Those samples were used to test the specificity of the TaqMan probe and robustness of Real-Time RT-PCR reaction. According to the results, only the samples which presented some specific punctual mutations (4 in total, all from one particular region of Romania at the genome level of ORF7, were positive, due to primer sequence specificity and complementarity. The Real-Time RT-PCR method has been increasingly adopted by swine producers and veterinarian laboratories as one of the most trustful techniques, combining rapidity, specificity and efficiency for detecting and monitoring the spread of PRRS virus.

  11. 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.)

  12. Development of a stochastic agent-based model to evaluate surveillance strategies for detection of emergent porcine reproductive and respiratory syndrome strains.

    Science.gov (United States)

    Arruda, A G; Poljak, Z; Knowles, D; McLean, A

    2017-06-12

    The objective of the current study was to develop a stochastic agent-based model using empirical data from Ontario (Canada) swine sites in order to evaluate different surveillance strategies for detection of emerging porcine reproductive and respiratory syndrome virus (PRRSV) strains at the regional level. Four strategies were evaluated, including (i) random sampling of fixed numbers of swine sites monthly; (ii) risk-based sampling of fixed numbers, specifically of breeding sites (high-consequence sites); (iii) risk-based sampling of fixed numbers of low biosecurity sites (high-risk); and (iv) risk-based sampling of breeding sites that are characterized as low biosecurity sites (high-risk/high-consequence). The model simulated transmission of a hypothetical emerging PRRSV strain between swine sites through three important industry networks (production system, truck and feed networks) while considering sites' underlying immunity due to past or recent exposure to heterologous PRRSV strains, as well as demographic, geographic and biosecurity-related PRRS risk factors. Outcomes of interest included surveillance system sensitivity and time to detection of the three first cases over a period of approximately three years. Surveillance system sensitivities were low and time to detection of three first cases was long across all examined scenarios. Traditional modes of implementing high-risk and high-consequence risk-based surveillance based on site's static characteristics do not appear to substantially improve surveillance system sensitivity. Novel strategies need to be developed and considered for rapid detection of this and other emerging swine infectious diseases. None of the four strategies compared herein appeared optimal for early detection of an emerging PPRSV strain at the regional level considering model assumptions, the underlying population of interest, and absence of other forms of surveillance.

  13. Simultaneous analysis of the expression of 14 genes with individual prognostic value in myelodysplastic syndrome patients at diagnosis: WT1 detection in peripheral blood adversely affects survival.

    Science.gov (United States)

    Santamaría, Carlos; Ramos, Fernando; Puig, Noemi; Barragán, Eva; de Paz, Raquel; Pedro, Carme; Insunza, Andrés; Tormo, Mar; Del Cañizo, Consuelo; Diez-Campelo, María; Xicoy, Blanca; Salido, Eduardo; Sánchez del Real, Javier; Hernández, Montserrat; Chillón, Carmen; Sanz, Guillermo F; García-Sanz, Ramón; San Miguel, Jesús F; González, Marcos

    2012-12-01

    Several studies have evaluated the prognostic value of the individual expression of certain genes in patients with myelodysplastic syndromes (MDS). However, none of them includes their simultaneous analysis by quantitative polymerase chain reaction (PCR). We evaluated relative expression levels of 14 molecular markers in 193 peripheral blood samples from untreated MDS patients using real-time PCR. Detectable WT1 expression levels, low TET2, and low IER3 gene expression were the only markers showing in univariate analysis a poor prognostic value for all treatment-free (TFS), progression-free (PFS), and overall survival (OS). In multivariate analysis, molecular parameters associated with a shorter TFS were: WT1 detection (p = 0.014), low TET2 (p = 0.002), and low IER3 expression (p = 0.025). WT1 detection (p = 0.006) and low TET2 (p = 0.006) expression were associated with a shorter PFS when multivariate analysis was carried out by including only molecular markers. Molecular values with an independent value in OS were: WT1 detection (p = 0.003), high EVI1 expression (p = 0.001), and undetectatable p15-CDKN2B (p = 0.037). WT1 expressers were associated with adverse clinical-biological features, high IPSS and WPSS scoring, and unfavorable molecular expression profile. In summary, detectable WT1 expression levels, and low TET2 and low IER3 expression in peripheral blood showed a strong association with adverse prognosis in MDS patients at diagnosis. However, WT1 was the only molecular marker displaying an independent prognostic value in both OS and TFS.

  14. Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister–Killian syndrome detected by amniocentesis

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    Chih-Ping Chen

    2017-12-01

    Conclusion: Pregnancy with fetal PKS and mosaic tetrasomy 12p may present fetoplacental cytogenetic discrepancy. Therefore, genetic analysis on placenta alone may fail to detect fetal mosaic tetrasomy 12p associated with PKS.

  15. Delayed phagocytosis and bacterial killing in Chediak-Higashi syndrome neutrophils detected by a fluorochrome assay: ultrastructural aspects

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    Raquel Bellinati-Pires

    1992-12-01

    Full Text Available The few studies already published about phagocyte functions in Chediak-Higashi syndrome (CHS has stated that neutrophils present slow rate of bacterial killing but normally ingest microorganisms. In the present study, both phagocytosis and killing of Staphylococcus aureus were verified to be in neutrophils from two patients with CHS when these functions were simultaneously evaluated by a fluorochrome phagocytosis assay. Electron microscopic examination showed morphologic differences among neutophils from CHS patients and normal neutrophils regarding the cytoplasmic structures and the aspects of the phagolysosomes. It was noteworthy the presence of giant phagolysosomes enclosing bacteria in active proliferation commonly observed in CHS neutrophils after 45 min of phagocytosis, wich corresponded with the impaired bactericidal activity of these leukocytes. The present results suggest that phagocytosis may also be defective in CHS, and point out to the sensitivity of the fluorochrome phagocytosis assay and its application in clinical laboratories.

  16. Minor Salivary Gland Biopsy To Detect Primary Sjögren Syndrome in Patients With Interstitial Lung Disease

    Science.gov (United States)

    Jeffrey J. Swigris; du Bois, Roland M.; Groshong, Steve D.; Cool, Carlyne D.; Sahin, Hakan; Lynch, David A.; Gillis, JoAnn Z.; Cohen, Marc D.; Meehan, Richard T.; Brown, Kevin K.

    2009-01-01

    Purpose: To describe a cohort of patients who presented with interstitial lung disease (ILD) of unknown cause, features of primary Sjögren syndrome (pSS), and a positive minor salivary gland biopsy (MSGB). Methods: Thirty-eight patients with ILD evaluated at our center underwent an MSGB to confirm a diagnosis of pSS. All of the samples were reviewed by pathologists experienced in the evaluation of salivary gland histology. We defined a positive MSGB finding as a lymphocyte focus score of >1. Results: At presentation, all patients had ILD, and symptoms of cough and dyspnea. None had a definable connective tissue disease (CTD) or known cause for their ILD. Thirteen patients (34%) had positive MSGB findings. Of these, the median age was 61 years (age range, 33 to 75 years); 7 patients (54%) were women; 8 patients (62%) had a smoking history; and 10 patients (77%) had sicca symptoms. In all patients, a thoracic high-resolution CT scan evaluation demonstrated bibasilar, peripheral-predominant, ground-glass, and reticular opacities. Four patients (31%) were negative for both antinuclear autoantibody (ANA) and rheumatoid factor (RF) autoantibody, and three patients (23%) were negative for ANA, RF, Sjögren syndrome (SS)-A, and SS-B autoantibodies. No patients experienced any complications from the MSGB. The identification of underlying pSS did not affect the management of ILD in these patients. Conclusions: Confirming a diagnosis of pSS-related ILD by performing MSGB allows for a moreprecise CTD classification. This study provides evidence that CTD may exist subclinically, andlongitudinal studies are needed to determine whether identifying occult CTD impacts on management, longitudinal changes in lung function, or survival. PMID:19429722

  17. Lateral flow assay for rapid detection of white spot syndrome virus (WSSV) using a phage-displayed peptide as bio-recognition probe.

    Science.gov (United States)

    Kulabhusan, Prabir Kumar; Rajwade, Jyutika M; Sahul Hameed, A S; Paknikar, Kishore M

    2017-06-01

    White spot disease caused by the white spot syndrome virus (WSSV) has a major socio-economic impact on shrimp farming in India. It has been realized that a field-usable diagnostic capable of rapid detection of WSSV can prevent huge economic losses in disease outbreaks. In this work, we explored the possibility of using a peptide as bio-recognition probe in a field-usable device for the detection of WSSV from infected shrimps and prawns. A commercially available random phage-display library was screened against rVP28 (a major structural protein of WSSV, expressed as a recombinant protein in Escherichia coli). A bacteriophage clone VP28-4L was obtained, and its binding to purified rVP28 protein as well as WSSV from infected shrimp Litopaeneus vannamei tissue was confirmed by ELISA and western blot. The apparent equilibrium dissociation constant (K d ,app) was calculated to be 810 nM. VP28-4L did not show cross-reactivity with any other shrimp viruses. A 12-mer peptide (pep28, with the sequence 'TFQAFDLSPFPS') displayed on the VP28-4L was synthesized, and its diagnostic potential was evaluated in a lateral flow assay (LFA). Visual detection of WSSV could be achieved using biotinylated-pep28 and streptavidin-conjugated gold nanoparticles. In LFA, 12.5 μg/mL of the virus could be detected from L. vannamei gill tissue homogenate within 20 min. Pep28 thus becomes an attractive candidate in bio-recognition of WSSV in field-usable diagnostic platforms benefitting the aquaculture sector.

  18. A Journey with Klinefelter Syndrome

    Science.gov (United States)

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  19. The Usefulness of Homeostatic Measurement Assessment-Insulin Resistance (HOMA-IR) for Detection of Glucose Intolerance in Thai Women of Reproductive Age with Polycystic Ovary Syndrome.

    Science.gov (United States)

    Wongwananuruk, Thanyarat; Rattanachaiyanont, Manee; Leerasiri, Pichai; Indhavivadhana, Suchada; Techatraisak, Kitirat; Angsuwathana, Surasak; Tanmahasamut, Prasong; Dangrat, Chongdee

    2012-01-01

    Objectives. To study the cut-off point of Homeostatic Measurement Assessment-Insulin Resistance (HOMA-IR) as a screening test for detection of glucose intolerance in Thai women with polycystic ovary syndrome (PCOS). Study Design. Cross-sectional study. Setting. Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital. Subject. Two hundred and fifty Thai PCOS women who attended the Gynecologic Endocrinology Unit, during May 2007 to January 2009. Materials and Methods. The paitents were interviewed and examined for weight, height, waist circumference, and blood pressure. Venous blood samples were drawn twice, one at 12-hour fasting and the other at 2 hours after glucose loading. Results. The prevalence of glucose intolerance in Thai PCOS women was 20.0%. The mean of HOMA-IR was 3.53  ±  7.7. Area under an ROC curve for HOMA-IR for detecting glucose intolerance was 0.82. Using the cut-off value of HOMA-IR >2.0, there was sensitivity at 84.0%, specificity at 61.0%, positive predictive value at 35.0%, negative predictive value at 93.8%, and accuracy at 65.6%. Conclusion. HOMA-IR >2.0 was used for screening test for glucose intolerance in Thai PCOS women. If the result was positive, a specific test should be done to prove the diagnosis.

  20. Real-Time Sequence-Validated Loop-Mediated Isothermal Amplification Assays for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV)

    Science.gov (United States)

    Bhadra, Sanchita; Jiang, Yu Sherry; Kumar, Mia R.; Johnson, Reed F.; Hensley, Lisa E.; Ellington, Andrew D.

    2015-01-01

    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 (ORF)1a 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. PMID:25856093

  1. 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.

  2. Transabdominal ultrasonography of the pancreas is superior to that of the liver for detection of ectopic fat deposits resulting from metabolic syndrome.

    Science.gov (United States)

    Li, Shilin; Su, Liyang; Lv, Guorong; Zhao, Weihong; Chen, Jianhui

    2017-09-01

    The aim of our study was to investigate the rate of nonalcoholic fatty pancreas disease (NAFPD) in the south China province of Fujian and its relationship to nonalcoholic fatty liver disease (NAFLD) and metabolic parameters.NAFPD is frequently identified on transabdominal ultrasound examination. The incidence of NAFPD varies from 16% to 69.7% depending on the country.A total of 256 subjects were recruited. Each was assessed by abdominal sonography to diagnose NAFLD and NAFPD. The ages, sexes, heights, weights, blood pressure, and detection of peripheral blood biochemical indices (cholesterol, triglycerides, high-density lipoprotein cholesterol [HDL], low-density lipoprotein cholesterol [LDL], and glucose) were recorded. The relationships among metabolic parameters and NAFPD or NAFLD were evaluated, and the positive rates of NAFLD and NAFPD in the general population were compared.The age, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), cholesterol, triglycerides, HDL, LDL, and glucose were significantly associated with NAFPD and NAFLD but the positive rate of NAFPD was significantly higher than that of NAFLD. The BMI, age, and NAFLD were the independent risk factors of NAFPD. The sex distribution, weight, SBP, DBP, BMI, LDL, HDL, triglycerides, glucose, cholesterol, NAFPD, and NAFLD were different significantly between metabolic syndrome and normal subjects.NAFPD and NAFLD can reflect the body metabolism, but NAFPD has a higher detection rate.

  3. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

    Science.gov (United States)

    Splendore, A; Silva, E O; Alonso, L G; Richieri-Costa, A; Alonso, N; Rosa, A; Carakushanky, G; Cavalcanti, D P; Brunoni, D; Passos-Bueno, M R

    2000-10-01

    Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single-nucleotide polymorphisms (SNPs) within its coding region. We suggest a possible different mechanism leading to TCS or genetic heterogeneity for this condition, as we identified two families with no apparent pathogenic mutation in the gene. Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias. Copyright 2000 Wiley-Liss, Inc.

  4. Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome?

    Directory of Open Access Journals (Sweden)

    Meenal Mavinkurve

    2017-07-01

    Full Text Available Turner syndrome (TS is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology. However, these modalities are limited by cost, accessibility, and are operator dependent. In view of these shortcomings, alternative methods, like vascular biomarkers, are currently being explored. There are only a few studies that have examined the relationship between B-type natriuretic peptide (BNP, N-terminal pro BNP (NT pro-BNP, and osteoprotegerin (OPG and aortic disease in TS, and thus the data are only in proof-of-concept stages. Further meticulous longitudinal studies are required before BNP, NT pro-BNP, and OPG are used as vascular biomarkers for the detection of aortic disease in childhood and adolescent TS.

  5. Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain-Barré syndrome.

    Science.gov (United States)

    Sevy, Amandine; Grapperon, Aude-Marie; Salort Campana, Emmanuelle; Delmont, Emilien; Attarian, Shahram

    2018-01-01

    Current diagnostic electrophysiological criteria can miss the early stages of Guillain-Barré syndrome (GBS). We evaluated the diagnostic efficiency of the triple stimulation technique (TST) in highlighting proximal conduction blocks (CBs) in patients who do not meet the electrophysiological criteria for GBS. All patients with a diagnosis of clinical GBS referred to our center between September 2014 and January 2016 were included in the study. For patients who did not fulfill the electrophysiological criteria of GBS, we performed the TST examination. Among the 44 included patients, 86% fulfilled the electrophysiological criteria of GBS during the initial nerve conduction study (NCS). The six remaining patients had proximal CBs revealed by TST examination. Therefore, a combination of a conventional NCS and the TST allowed 100% of the patients to be electrophysiologically diagnosed. TST is useful for the diagnosis of GBS in association with NCS, particularly in the early stages of the disease. TST is a useful tool for GBS diagnosis at the early stages of the disease. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  6. Age-related cognitive decline and vision impairment affecting the detection of dementia syndrome in old age.

    Science.gov (United States)

    Reischies, F M; Geiselmann, B

    1997-11-01

    Currently the Mini Mental State Examination (MMSE) is widely used as a screening instrument for dementia syndrome. Diagnostic validity may be lowered in old age by normal age-related cognitive decline. Furthermore, visual impairment, occurring frequently in old age, leads to missing values which prevent an interpretation of the test result. In the Berlin Ageing Study (n = 516, age range 70-103 years) MMSE and clinical dementia diagnosis, made by a psychiatrist investigating all subjects by the Geriatric Mental State-A and History and Aetiology Schedule interviews, were investigated independently. The MMblind was analysed, an MMSE version for vision impairment in which all items requiring image processing are omitted. The study sample is population-based; dementia cases (DSM-III-R) were excluded on the basis of the clinical diagnosis. Norms are reported for very old age regarding MMSE as well as MMblind. There is a considerable age effect on MMSE scores. In contrast to MMSE, sensitivity and specificity of the shorter MMblind version are not reduced. The considerable age effect requires the adaptation of cut-off values for old age. The blind version of the MMSE seems to be a valid instrument improving the applicability of the MMSE in old age.

  7. Fanconi syndrome

    Science.gov (United States)

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

  8. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  9. Hunter Syndrome

    Science.gov (United States)

    ... in girls. There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications. Symptoms Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs), and Hunter syndrome is ...

  10. 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. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. [Perform vestibular test among all small deaf children! Early detection of Usher syndrome improves the possibilities of communication in the event of later deaf-blindness].

    Science.gov (United States)

    Konrádsson, K; Magnusson, M; Andréasson, S

    1998-01-28

    Although deaf children depend upon sight for communication, retinitis pigmentosa is present in 6 per cent of those with a profound hearing deficit. Usher syndrome type 1 (USH-1) is an autosomal recessive disease characterised by profound hearing impairment, absent vestibular function, and progressive loss of vision due to retinitis pigmentosa. Owing to the severe handicap of the combined disorders, early diagnosis of USH-1 is of crucial importance. The profound hearing deficit is often detected at hearing tests in infancy, but as the sight problems do not develop until later diagnosis is often delayed. The diagnosis of Usher's syndrome is established by electroretinography (ERG), as confirmation of the retinitis pigmentosa is a prerequisite. As the progressive deterioration of sight hinders the use of sign language, a cochlear implant constitutes an invaluable aid at an early age. Early diagnosis is thus of both medical and educative importance. To avoid delay in diagnosis past the age when optimal results may be expected from a cochlear implant, a screening test was sought for infants with profound hearing loss to identify those at increased risk of USH-1, for whom ERG is a priority. Although conventional vestibular testing methods are not well tolerated by infants, with recently developed equipment for video or CCI) (charge-coupled device) camera inspection of eye movements, vestibular screening can now be performed in the office. In our experience it is possible to screen most infants, given a careful approach by the investigator. Children with clinically diagnosed USH-1, without any vestibulo-ocular reflex, manifested no vestibular responses during 'video-nystagmoscopy' when rotated on the parent's lap, preliminary findings strongly suggest that vestibular function should be tested in all children with a profound congenital hearing deficit, as it is important for children with USH-1 to be provided with a cochlear implant permitting aural reception of

  12. Devising an indicator to detect mid-term abortions in dairy cattle: a first step towards syndromic surveillance of abortive diseases.

    Directory of Open Access Journals (Sweden)

    Anne Bronner

    Full Text Available Bovine abortion surveillance is essential for human and animal health because it plays an important role in the early warning of several diseases. Due to the limited sensitivity of traditional surveillance systems, there is a growing interest for the development of syndromic surveillance. Our objective was to assess whether, routinely collected, artificial insemination (AI data could be used, as part of a syndromic surveillance system, to devise an indicator of mid-term abortions in dairy cattle herds in France. A mid-term abortion incidence rate (MAIR was computed as the ratio of the number of mid-term abortions to the number of female-weeks at risk. A mid-term abortion was defined as a return-to-service (i.e., a new AI taking place 90 to 180 days after the previous AI. Weekly variations in the MAIR in heifers and parous cows were modeled with a time-dependent Poisson model at the département level (French administrative division during the period of 2004 to 2010. The usefulness of monitoring this indicator to detect a disease-related increase in mid-term abortions was evaluated using data from the 2007-2008 episode of bluetongue serotype 8 (BT8 in France. An increase in the MAIR was identified in heifers and parous cows in 47% (n = 24 and 71% (n = 39 of the departements. On average, the weekly MAIR among heifers increased by 3.8% (min-max: 0.02-57.9% when the mean number of BT8 cases that occurred in the previous 8 to 13 weeks increased by one. The weekly MAIR among parous cows increased by 1.4% (0.01-8.5% when the mean number of BT8 cases occurring in the previous 6 to 12 weeks increased by one. These results underline the potential of the MAIR to identify an increase in mid-term abortions and suggest that it is a good candidate for the implementation of a syndromic surveillance system for bovine abortions.

  13. Usefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases.

    Science.gov (United States)

    Ishiguro, Yui; Homma, Shigenori; Yoshida, Tadashi; Ohno, Yosuke; Ichikawa, Nobuki; Kawamura, Hideki; Hata, Hiroo; Kase, Satoru; Ishida, Susumu; Okada-Kanno, Hiromi; Hatanaka, Kanako C; Taketomi, Akinobu

    2017-12-01

    Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatosis caused by mutations in mismatch repair genes. It is characterized by the presence of at least one sebaceous skin tumor associated with internal malignancies. Whether positron emission tomography/computed tomography (PET/CT) is useful for the detection of malignancies in patients with MTS has not been determined. We herein report two cases in which PET/CT was useful for the diagnosis and follow-up of internal malignancies in patients with MTS. In case 1, a 57-year-old woman underwent excision of a sebaceous carcinoma on the left upper eyelid. She underwent follow-up PET/CT once yearly thereafter. Forty-two months after the eyelid surgery, PET/CT showed intense tracer uptake in the right lower abdomen. An ascending colon tumor was identified, and examination of a biopsy specimen showed adenocarcinoma. In case 2, a 77-year-old man presented for evaluation of three continuous papules with telangiectasia on his right cheek. Examination of a skin biopsy specimen of the cheek papule revealed a sebaceous carcinoma. He underwent PET/CT to detect other malignancies. PET/CT showed intense tracer uptake in the sigmoid colon. A sigmoid colon tumor was identified, and examination of a biopsy specimen showed adenocarcinoma. Both patients underwent resection of their tumors, and both were still free of recurrence of the sebaceous and colon carcinomas at the time of this writing. PET/CT is a reliable imaging modality for the detection of internal malignancies and is useful for the diagnosis and follow-up of MTS.

  14. Prevalence of porcine reproductive and respiratory syndrome virus detection in aborted fetuses, mummified fetuses and stillborn piglets using quantitative polymerase chain reaction.

    Science.gov (United States)

    Olanratmanee, Em-on; Wongyanin, Piya; Thanawongnuwech, Roongroje; Tummaruk, Padet

    2015-09-01

    The objective of the present study was to investigate the prevalence of porcine reproductive and respiratory syndrome (PRRS) virus detection in aborted fetuses (n=32), mummified fetuses (n=30) and stillborn piglets (n=27) from 10 swine herds in Thailand using quantitative polymerase chain reaction (qPCR). Pooled organs and umbilical cord from each fetus/piglet were homogenized and subjected to RNA extraction and cDNA synthesis. The qPCR was carried out on the ORF7 of the PRRS viral genome using fluorogenic probes for amplified product detection. The results revealed that 67.4% (60/89) of the specimens contained PRRS virus. The virus was found in 65.6% (21/32) of aborted fetuses, 63.3% (19/30) of mummified fetuses and 74.1% (20/27) of stillborn piglets (P=0.664). Genotype 1, genotype 2 and mixed genotypes of PRRS virus were detected in 19.1% (17/89), 25.8% (23/89) and 22.5% (20/89) of the specimens, respectively (P=0.316). PRRS virus antigen was retrieved from both non-PRRS-vaccinated herds (68.2%, 45/66) and PRRS-vaccinated herds (65.2%, 15/23) (P=0.794). These findings indicated that these specimens are important sources of the PRRS viral load and the viral shedding within the herd. Thus, intensive care on the routine management of dead fetuses and stillborn piglets in PRRS virus-positive herds should be emphasized.

  15. Fetal Alcohol Syndrome (FAS) in C57BL/6 Mice Detected through Proteomics Screening of the Amniotic Fluid

    Science.gov (United States)

    Datta, Susmita; Turner, Delano; Singh, Reetu; Ruest, L. Bruno; Pierce, William M.; Knudsen, Thomas B.

    2009-01-01

    BACKGROUND Fetal Alcohol Syndrome (FAS), a severe consequence of the Fetal Alcohol Spectrum Disorders, is associated with craniofacial defects, mental retardation, and stunted growth. Previous studies in C57BL/6J and C57BL/6N mice provide evidence that alcohol-induced pathogenesis follows early changes in gene expression within specific molecular pathways in the embryonic headfold. Whereas the former (B6J) pregnancies carry a high-risk for dysmorphogenesis following maternal exposure to 2.9 g/kg alcohol (two injections spaced 4.0 h apart on gestation day 8), the latter (B6N) pregnancies carry a low-risk for malformations. The present study used this murine model to screen amniotic fluid for biomarkers that could potentially discriminate between FAS-positive and FAS-negative pregnancies. METHODS B6J and B6N litters were treated with alcohol (exposed) or saline (control) on day 8 of gestation. Amniotic fluid aspirated on day 17 (n = 6 replicate litters per group) was subjected to trypsin digestion for analysis by matrix-assisted laser desorption–time of flight mass spectrometry with the aid of denoising algorithms, statistical testing, and classification methods. RESULTS We identified several peaks in the proteomics screen that were reduced consistently and specifically in exposed B6J litters. Preliminary characterization by liquid chromatography tandem mass spectrometry and multidimensional protein identification mapped the reduced peaks to alpha fetoprotein (AFP). The predictive strength of AFP deficiency as a biomarker for FAS-positive litters was confirmed by area under the receiver operating characteristic curve. CONCLUSIONS These findings in genetically susceptible mice support clinical observations in maternal serum that implicate a decrease in AFP levels following prenatal alcohol damage. PMID:18240165

  16. Utility of the History and Physical Examination in the Detection of Acute Coronary Syndromes in Emergency Department Patients

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    Zachary DW Dezman

    2017-05-01

    Full Text Available Chest pain accounts for approximately 6% of all emergency department (ED visits and is the most common reason for emergency hospital admission. One of the most serious diagnoses emergency physicians must consider is acute coronary syndrome (ACS. This is both common and serious, as ischemic heart disease remains the single biggest cause of death in the western world. The history and physical examination are cornerstones of our diagnostic approach in this patient group. Their importance is emphasized in guidelines, but there is little evidence to support their supposed association. The purpose of this article was to summarize the findings of recent investigations regarding the ability of various components of the history and physical examination to identify which patients presenting to the ED with chest pain require further investigation for possible ACS. Previous studies have consistently identified a number of factors that increase the probability of ACS. These include radiation of the pain, aggravation of the pain by exertion, vomiting, and diaphoresis. Traditional cardiac risk factors identified by the Framingham Heart Study are of limited diagnostic utility in the ED. Clinician gestalt has very low predictive ability, even in patients with a non-diagnostic electrocardiogram (ECG, and gestalt does not seem to be enhanced appreciably by clinical experience. The history and physical alone are unable to reduce a patient’s risk of ACS to a generally acceptable level (<1%. Ultimately, our review of the evidence clearly demonstrates that “atypical” symptoms cannot rule out ACS, while “typical” symptoms cannot rule it in. Therefore, if a patient has symptoms that are compatible with ACS and an alternative cause cannot be identified, clinicians must strongly consider the need for further investigation with ECG and troponin measurement.

  17. Cone rod dystrophies

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    Hamel Christian P

    2007-02-01

    Full Text Available Abstract 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

  18. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  19. Early Detection and Treatment of Neuroblastic Tumor with Opsoclonus-Myoclonus Syndrome Improve Neurological Outcome: A Review of Five Cases at a Single Institution in Japan.

    Science.gov (United States)

    Takama, Yuichi; Yoneda, Akihiro; Nakamura, Tetsuro; Nakaoka, Tatsuo; Higashio, Atsushi; Santo, Kenji; Kuki, Ichiro; Kawawaki, Hisashi; Tomiwa, Kiyotaka; Hara, Junichi

    2016-02-01

    Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder associated with neuroblastic tumor (NT) in childhood. Half of patients have neurological sequelae after the neurological and oncological treatment. We reviewed the neurological and oncological outcomes of NT with OMS, and discussed whether the treatment of NT would contribute to improving the neurological prognosis. We retrospectively assessed NT patients with OMS from January 2001 to December 2013 at a single institution in Japan. Demographic data, neurological and oncological status, histopathology, treatments, prognosis, and diagnosis and treatment timing were retrospectively reviewed from the records. The timings assessed were the interval between OMS onset and NT detection, initial NT therapy, and initial OMS therapy, the interval between NT therapy and OMS remission, and duration of OMS. A total of 73 patients with NT were treated during the study period, and 5 of 73 patients were diagnosed as having NT with OMS. The median age at onset of OMS was 22 months (range, 18-30 months). The median age at detection of NT was 29 months (range, 21-33 months). Three of five cases showed no uptake on meta-iodobenzylguanidine scintigraphy. The tumor histopathology was neuroblastoma in two patients, ganglioneuroblastoma in two patients, and ganglioneuroma in one patient. Primary resection was performed in three cases. All patients survived. Two of five cases presented with atypical neurological symptoms without opsoclonus. The initial neurological therapy was started within a mean of 20 days (range, 3-76 days) from the onset of OMS in all cases. Four patients received intravenous immunoglobulin, and one with persistent neurological problems received rituximab. Neurological symptoms resolved in three cases. The mean interval between the onset of OMS and the detection of NT in case without neurological sequelae was 57 days (range, 25-113 days), while in case with neurological sequelae it was 365

  20. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

    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 ......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...

  1. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.

    Science.gov (United States)

    Zhang, Dapeng; Aravind, L

    2012-10-15

    In addition to their role in motility, eukaryotic cilia serve as a distinct compartment for signal transduction and regulatory sequestration of biomolecules. Recent genetic and biochemical studies have revealed an extraordinary diversity of protein complexes involved in the biogenesis of cilia during each cell cycle. Mutations in components of these complexes are at the heart of human ciliopathies such as Nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS) and Joubert syndrome (JBTS). Despite intense studies, proteins in some of these complexes, such as the NPHP1-4-8 and the MKS, remain poorly understood. Using a combination of computational analyses we studied these complexes to identify novel domains in them which might throw new light on their functions and evolutionary origins. First, we identified both catalytically active and inactive versions of transglutaminase-like (TGL) peptidase domains in key ciliary/centrosomal proteins CC2D2A/MKS6, CC2D2B, CEP76 and CCDC135. These ciliary TGL domains appear to have originated from prokaryotic TGL domains that act as peptidases, either in a prokaryotic protein degradation system with the MoxR AAA+ ATPase, the precursor of eukaryotic dyneins and midasins, or in a peptide-ligase system with an ATP-grasp enzyme comparable to tubulin-modifying TTL proteins. We suggest that active ciliary TGL proteins are part of a cilia-specific peptidase system that might remove tubulin modifications or cleave cilia- localized proteins, while the inactive versions are likely to bind peptides and mediate key interactions during ciliogenesis. Second, we observe a vast radiation of C2 domains, which are key membrane-localization modules, in multiple ciliary proteins, including those from the NPHP1-4-8 and the MKS complexes, such as CC2D2A/MKS6, RPGRIP1, RPGRIP1L, NPHP1, NPHP4, C2CD3, AHI1/Jouberin and CEP76, most of which can be traced back to the last common eukaryotic ancestor. Identification of these TGL and

  2. Clinical implications of the detection of antibodies directed against domain 1 of β2-glycoprotein 1 in thrombotic antiphospholipid syndrome.

    Science.gov (United States)

    Montalvão, Silmara; Elídio, Priscila Soares; da Silva Saraiva, Sabrina; de Moraes Mazetto, Bruna; Colella, Marina Pereira; de Paula, Erich Vinícius; Appenzeller, Simone; Annichino-Bizzacchi, Joyce; Orsi, Fernanda Andrade

    2016-12-01

    Antibodies directed against domain 1 of β2 glycoprotein 1 (aβ2GP1-Dm1) have been involved in the immunopathogenesis of antiphospholipid syndrome (APS). However, the clinical relevance of aβ2GP1-Dm1 in thrombotic APS has not yet been fully explored. To determine the frequency of aβ2GP1-Dm1 in a cohort of patients with thrombotic APS, and to evaluate whether testing for aβ2GP1-Dm1 could have a clinical impact upon the risk assessment of the disease. Patients were tested for aβ2GP1-Dm1 antibodies by chemiluminescence (BioFlash/AcuStar®, ES). The presence of aβ2GP1-Dm1 was evaluated in different clinical presentations of the disease. Eight-four patients with a history of venous or arterial thrombosis were included. Forty-five (54%) patients had aβ2GP1 antibodies and 40% of them were positive for aβ2GP1-Dm1. Levels of aβ2GP1-Dm1 were higher in patients with systemic autoimmune disease (AUC=0.665; 95% CI=0.544-0.786; P=0.01), positive antinuclear antibody (AUC=0.654; 95% CI=0.535-0.772; P=0.01), triple antiphospholipid antibody (aPL) positivity (AUC=0.680; 95% CI=0.534-0.825; P=0.02) and positive lupus anticoagulant (AUC=0.639; 95% CI=0.502-0.776; P=0.07). In this cohort, aβ2GP1-Dm1 antibodies were not associated with the site of the first thrombosis (OR=0,62, 95% CI=0.20-1.94, P=0.42), thrombosis recurrence (OR=1.0, 95% CI=0.37-2.71, P=1.0) or pregnancy morbidity (OR=1.5, 95% CI=0.33-7.34, P=0.58). In multivariate analysis, positivity for aβ2GP1-Dm1 antibodies was associated with the diagnosis of systemic autoimmune disease (OR=4.01, 95% CI=1.14-14.2; P=0.03) and triple aPL positivity (OR=3.59, 95% CI=0.87-14.85; P=0.07). In the present cohort of thrombotic-APS patients, aβ2GP1-Dm1 antibodies were related to the diagnosis of systemic autoimmunity and complex serological profile of the disease, as triple aPL positivity and positive antinuclear antibody. Thus, our results suggest that testing for aβ2GP1-Dm1 antibodies may be useful for improving APS risk

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

    Energy Technology Data Exchange (ETDEWEB)

    Schramm, N.; Schmid-Tannwald, C.; Meinel, F.G.; Reiser, M.F.; Rist, C. [Ludwig-Maximilians-University Hospital Munich, Institute for Clinical Radiology, Munich (Germany); Rominger, A. [Ludwig-Maximilians-University Hospital Munich, Department of Nuclear Medicine, Munich (Germany); Schmidt, C. [Ludwig-Maximilians-University Hospital Munich, Department of Neurology, Munich (Germany); Morelli, J.N. [Texas A and M Health Sciences Center, Department of Radiology, Temple, TX (United States)

    2013-07-15

    To determine the value of combined {sup 18}F-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

  4. BCR CDR3 length distributions differ between blood and spleen and between old and young patients, and TCR distributions can be used to detect myelodysplastic syndrome

    International Nuclear Information System (INIS)

    Pickman, Yishai; Mehr, Ramit; Dunn-Walters, Deborah

    2013-01-01

    Complementarity-determining region 3 (CDR3) is the most hyper-variable region in B cell receptor (BCR) and T cell receptor (TCR) genes, and the most critical structure in antigen recognition and thereby in determining the fates of developing and responding lymphocytes. There are millions of different TCR Vβ chain or BCR heavy chain CDR3 sequences in human blood. Even now, when high-throughput sequencing becomes widely used, CDR3 length distributions (also called spectratypes) are still a much quicker and cheaper method of assessing repertoire diversity. However, distribution complexity and the large amount of information per sample (e.g. 32 distributions of the TCRα chain, and 24 of TCRβ) calls for the use of machine learning tools for full exploration. We have examined the ability of supervised machine learning, which uses computational models to find hidden patterns in predefined biological groups, to analyze CDR3 length distributions from various sources, and distinguish between experimental groups. We found that (a) splenic BCR CDR3 length distributions are characterized by low standard deviations and few local maxima, compared to peripheral blood distributions; (b) healthy elderly people's BCR CDR3 length distributions can be distinguished from those of the young; and (c) a machine learning model based on TCR CDR3 distribution features can detect myelodysplastic syndrome with approximately 93% accuracy. Overall, we demonstrate that using supervised machine learning methods can contribute to our understanding of lymphocyte repertoire diversity. (paper)

  5. Detection and characterization of Budd-Chiari syndrome with inferior vena cava obstruction: Comparison of fixed and flexible delayed scan time of computed tomography venography.

    Science.gov (United States)

    Zhou, Peng-Li; Wu, Gang; Han, Xin-Wei; Bi, Yong-Hua; Zhang, Wen-Guang; Wu, Zheng-Yang

    2017-06-01

    To compare the results of computed tomography venography (CTV) with a fixed and a flexible delayed scan time for Budd-Chiari syndrome (BCS) with inferior vena cava (IVC) obstruction. A total of 209 consecutive BCS patients with IVC obstruction underwent either a CTV with a fixed delayed scan time of 180s (n=87) or a flexible delayed scan time for good image quality according to IVC blood flow in color Doppler ultrasonography (n=122). The IVC blood flow velocity was measured using a color Doppler ultrasound prior to CT scan. Image quality was classified as either good, moderate, or poor. Image quality, surrounding structures and the morphology of the IVC obstruction were compared between the two groups using a χ 2 -test or paired or unpaired t-tests as appropriate. Inter-observer agreement was assessed using Kappa statistics. There was no significant difference in IVC blood flow velocity between the two groups. Overall image quality, surrounding structures and IVC obstruction morphology delineation on the flexible delayed scan time of CTV images were rated better relative to those obtained by fixed delayed scan time of CTV images (ptime of CTV. There were no significant differences in Kappa statistics between Group A and Group B. The flexible delayed scan time of CTV was associated with better detection and more reliable characterization of BCS with IVC obstruction compared to a fixed delayed scan time. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. A novel mycoplasma detected in association with upper respiratory disease syndrome in free-ranging eastern box turtles (Terrapene carolina carolina) in Virginia.

    Science.gov (United States)

    Feldman, Sanford H; Wimsatt, Jeffrey; Marchang, Rachel E; Johnson, April J; Brown, William; Mitchell, Joseph C; Sleeman, Jonathan M

    2006-04-01

    Clinical signs of upper respiratory tract disease-like syndrome (URTD-LS) were observed in free-ranging eastern box turtles (Terrapene carolina carolina) from Virginia, USA (May 2001-August 2003), some of which also had aural abscesses. After a Mycoplasma sp. was detected by polymerase chain reaction (PCR), a study was undertaken to better define the range of clinical signs of disease and to distinguish mycoplasma-associated URTD-LS from other suspected causes of URTD-LS and aural abscessation in box turtles. Nasal and/or ocular swabs (from turtles possessing URTD-LS) or nasal washes (from asymptomatic turtles) were collected from turtles May 2001-August 2003; samples were assayed for Mycoplasma spp., chelonian herpesvirus, and iridoviruses by PCR testing. A partial DNA sequence (933 bases) of the small ribosomal subunit (16S rRNA) of the box turtle Mycoplasma sp. was analyzed to determine its phylogenetic relatedness to other Mycoplasma spp. of veterinary interest. Mycoplasma sp. was detected in seven (six with clinical signs of URTD-LS; one asymptomatic) of 23 fortuitously collected animals from six of 11 Virginia counties. Clinical signs in Mycoplasma sp.-infected animals included unilateral to bilateral serous to mucopurulent nasal discharge, epiphora, ocular edema, and conjunctival injection. Five Mycoplasma sp.-positive animals possessed aural abscesses; two did not. Analysis of the mycoplasma 16S rRNA gene sequence from one asymptomatic and three symptomatic animals representing four counties revealed a consensus Mycoplasma sp. sequence closely related to, but distinct from, M. agassizii. None of the samples collected contained viral DNA of chelonian herpesviruses or invertebrate and vertebrate (including FV3) iridoviruses. In conclusion, a new Mycoplasma sp. was associated with URTD-LS in native box turtles from Virginia that was not codetected with other suspected causes of chelonian upper respiratory disease; there was no proof of a direct relationship

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

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    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.

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

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    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

  9. 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

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

    International Nuclear Information System (INIS)

    Iriyama, Chisako; Tomita, Akihiro; Hoshino, Hideaki; Adachi-Shirahata, Mizuho; Furukawa-Hibi, Yoko; Yamada, Kiyofumi; Kiyoi, Hitoshi; Naoe, Tomoki

    2012-01-01

    Highlights: ► Circulating DNAs (CDs) can be used to detect genetic/epigenetic abnormalities in MDS. ► Epigenetic changes can be detected more sensitively when using plasma DNA than PBMNC. ► Mutation ratio in CDs may reflect the ratio in stem cell population in bone marrow. ► 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/epigenetic analyses using PB circulating DNA can be a safer and painless alternative to using BM

  11. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

    NARCIS (Netherlands)

    Ruijs, M.W.G.; Verhoef, S.; Rookus, M.A.; Pruntel, R.; van der Hout, A.H.; Hogervorst, F.B.L.; Kluijt, I.; Sijmons, R.H.; Aalfs, C.M.; Wagner, A.; Ausems, M.G.E.M.; Hoogerbrugge, N.; van Asperen, C.J.; Gómez García, E.B.; Meijers-Heijboer, H.; ten Kate, L.P.; Menko, F.H.; van 't Veer, L.J.

    2010-01-01

    Background Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour TP53 germline mutations. However, TP53 germline mutations may also occur in less obvious phenotypes. As a result, different criteria

  12. 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

  13. Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2013-06-01

    Conclusion: Prenatal diagnosis of polyhydramnios, frontal bossing, and midface hypoplasia associated with brain and digital abnormalities should include a differential diagnosis of Apert syndrome. A molecular analysis of FGFR2 using uncultured amniocytes is useful for rapid confirmation of Apert syndrome at prenatal diagnosis.

  14. Marfan Syndrome

    Science.gov (United States)

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

  15. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  16. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  17. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  18. Piriformis Syndrome

    Science.gov (United States)

    ... the National Library of Medicine’s MedlinePlus Piriformis Syndrome Metabolic Syndrome Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Piriformis syndrome ...

  19. 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 (

  20. Sotos syndrome.

    Science.gov (United States)

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-09-07

    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 (therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the

  1. Feasibility of video capsule endoscopy in the management of children with Peutz-Jeghers syndrome: a blinded comparison with barium enterography for the detection of small bowel polyps.

    Science.gov (United States)

    Postgate, Aymer; Hyer, Warren; Phillips, Robin; Gupta, Arun; Burling, David; Bartram, Clive; Marshall, Michelle; Taylor, Stuart; Brown, Gregor; Schofield, Gill; Bassett, Paul; Spray, Christine; Fitzpatrick, Aine; Latchford, A; Fraser, Chris

    2009-10-01

    Peutz-Jeghers syndrome (PJS) in children may present with anaemia, intussusception, or obstruction from an early age and surgery is common. Prophylactic polypectomy may reduce subsequent complications. Traditional barium enterography (BE) has poor sensitivity and requires significant radiation. We compared the performance of capsule endoscopy (CE) with BE in children with PJS. Children with PJS (ages 6.0-16.5 years) were prospectively recruited and underwent BE followed by CE, each reported by expert reviewers blinded to the alternate modality. Number of "significant" (>10 mm) and total number of polyps were recorded. Child preference was assessed using a visual analogue questionnaire. Definitive findings were assessed at laparotomy or enteroscopy, when performed. There was no significant difference for >10 mm polyp detection. Six polyps were found in 3 children by both modalities: 3 polyps in 2 children at CE, 3 polyps in 1 child at BE (P=0.50). Re-review of 1 CE identified 3 polyps that were missed in 1 child at initial reading. Significantly more polyps were identified by CE than BE: 61 vs 6 (P=0.02). CE was significantly more comfortable than BE (median score CE 76 [interquartile range 69-87] vs BE 37 [interquartile range 31-68], P=0.03) and was the preferred investigation in 90% (P=0.02). CE is a feasible, safe, and sensitive test for small bowel polyp surveillance in children with PJS. It is significantly more comfortable than BE and is the preferred test of most children for future surveillance. There is a learning curve for reporting CE studies in PJS and appropriate training is essential.

  2. Middle East respiratory syndrome coronavirus not detected in children hospitalized with acute respiratory illness in Amman, Jordan, March 2010 to September 2012

    Science.gov (United States)

    Khuri-Bulos, N.; Payne, D. C.; Lu, X.; Erdman, D.; Wang, L.; Faouri, S.; Shehabi, A.; Johnson, M.; Becker, M. M.; Denison, M. R.; Williams, J. V.; Halasa, N. B.

    2015-01-01

    Hospitalized children < 2 years of age in Amman, Jordan, admitted for fever and/or respiratory symptoms, were tested for Middle East respiratory syndrome coronavirus (MERS-CoV): MERS-CoV by real-time RT-PCR (rRT-PCR). This was a prospective year-round viral surveillance study in children <2 years of age admitted with acute respiratory symptoms and/or fever from March 2010 to September 2012 and enrolled from a government-run hospital, Al-Bashir in Amman, Jordan. Clinical and demographic data, including antibiotic use, were collected. Combined nasal/throat swabs were collected, aliquoted, and frozen at −80°C. Specimen aliquots were shipped to Vanderbilt University and the Centers for Disease Control and Prevention (CDC), and tested by rRT-PCR for MERS-CoV. Of the 2433 subjects enrolled from 16 March 2010 to 10 September 2012, 2427 subjects had viral testing and clinical data. Of 1898 specimens prospectively tested for other viruses between 16 March 2010 and 18 March 2012, 474 samples did not have other common respiratory viruses detected. These samples were tested at CDC for MERS-CoV and all were negative by rRT-PCR for MERS-CoV. Of the remaining 531 samples, collected from 19 March 2012 to 10 September 2012 and tested at Vanderbilt, none were positive for MERS-CoV. Our negative findings from a large sample of young Jordanian children hospitalized with fever and/or respiratory symptoms suggest that MERS-CoV was not widely circulating in Amman, Jordan, during the 30-month period of prospective, active surveillance occurring before and after the first documented MERS-CoV outbreak in the Middle East region. PMID:24313317

  3. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

    Science.gov (United States)

    O'Keefe, Joan A; Robertson-Dick, Erin; Dunn, Emily J; Li, Yan; Deng, Youping; Fiutko, Amber N; Berry-Kravis, Elizabeth; Hall, Deborah A

    2015-12-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" size 55-200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Core motor features include cerebellar gait ataxia and kinetic tremor, resulting in progressive mobility disability. There are no published studies characterizing balance deficits in FMR1 premutation carriers with and without FXTAS using a battery of quantitative measures to test the sensory integration underlying postural control, automatic postural reflexes, and dynamic postural stability limits. Computerized dynamic posturography (CDP) and two performance-based balance measures were administered in 44 premutation carriers, 21 with FXTAS and 23 without FXTAS, and 42 healthy controls to compare balance and functional mobility between these groups. Relationships between FMR1 molecular variables, age, and sex and CDP scores were explored. FXTAS subjects demonstrated significantly lower scores on the sensory organization test (with greatest reductions in the vestibular control of balance), longer response latencies to balance perturbations, and reduced stability limits compared to controls. Premutation carriers without FXTAS also demonstrated significantly delayed response latencies and disrupted sensory weighting for balance control. Advancing age, male sex, increased CGG repeat size, and reduced X activation of the normal allele in premutation carrier women predicted balance dysfunction. These postural control deficits in carriers with and without FXTAS implicate dysfunctional cerebellar neural networks and may provide valuable outcome markers for tailored rehabilitative interventions. Our findings suggest that CDP may provide sensitive measures for early detection of postural control impairments in at-risk carriers and better characterize balance dysfunction and progression in FXTAS.

  4. 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.

  5. Detection of circulating immune complexes of human IgA and beta 2 glycoprotein I in patients with antiphospholipid syndrome symptomatology.

    Science.gov (United States)

    Martínez-Flores, José A; Serrano, Manuel; Pérez, Dolores; Lora, David; Paz-Artal, Estela; Morales, José M; Serrano, Antonio

    2015-07-01

    Patients with antiphospholipid syndrome (APS) have a hypercoagulable condition associated with the presence of antiphospholipid autoantibodies (aPL). Consensus antibodies for diagnosis are lupus anticoagulant, anti-beta2 glycoprotein I (B2GPI) and anticardiolipin (IgG or IgM). Circulating immunocomplexes (CIC) of B2GPI associated with IgM or IgG were reported. Isolated IgA aB2GPI antibodies have achieved high diagnostic value although specific CIC of B2GPI bounded to IgA (B2A-CIC) has still not been described. CIC detection assays are mainly based on interaction with complement and are not appropriate to detect B2A-CIC because IgA does not fix complement using the classical pathway. Sera from healthy blood donors (N= 247) and from patients with thrombosis background and isolate positive for IgA aB2GPI (N = 68) were studied in a case-control study. Two methods were applied, these being a capture ELISA to quantify specific B2A-CIC and quantification of total IgA anti-B2GPI after dissociating CIC. B2A-CIC values in APS-patients were 19.27 ± 2.6 AU vs 6.1 ± 0.4 AU in blood donors (p < 0.001). There were 36.4% B2A-CIC positive patients (cutoff 21 AU) versus 5.5% in blood donors (p < 0.001). Dissociated IgA aB2GPI levels (total IgA aB2GPI) were 146.8 ± 10.8 IU/mL in patients vs. 22.4 IU/mL in controls (p < 0.001). B2A-CIC was independent of B2GPI and autoantibodies IgA aB2GPI serum levels. B2A-CIC can be identified and quantified in an easy and reproducible manner using two complement-independent methods. The use of these tests in prospective studies will allow better understanding of the prognosis and outcome of patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2.

    Science.gov (United States)

    Moazzeni, Hamidreza; Akbari, Mohammad Taghi; Yazdani, Shahin; Elahi, Elahe

    2016-11-15

    The transcription factor PITX2 is implicated in glaucoma pathology. In an earlier study we had used microarray analysis to identify genes in the trabecular meshwork (TM) that are affected by knock down of PITX2. Here, those studies were pursued to identify genes that are direct targets of PITX2 and that may be relevant to glaucoma. Initially, bioinformatics tools were used to select among the genes that had been affected by PITX2 knock down those that have PITX2 binding sites and that may be involved in glaucoma related functions. Subsequently, the effect of PITX2 was tested using the dual luciferase assay in four cell cultures including two primary TM cultures co-transfected with vectors containing promoter fragments of six candidate genes upstream of a luciferase gene and a vector that expressed PITX2. Finally, the effect of PITX2 on endogenous expression of two genes was assessed by over expression and knock down of PITX2 in TM cells. Thirty four genes were found to contain PITX2 binding sites in their putative promoter regions, and 16 were found to be associated with TM-specific and/or glaucoma associated functions. Results of dual luciferase assays confirmed that two of six genes tested were directly targeted by PITX2. The two genes were CXCL6 (chemokine (C-X-C motif) ligand 6) and BBS5 (Bardet-Biedl syndrome 5). Over expression and knock down of PITX2 showed that this transcription factor affects endogenous expression of these two genes in TM cells. CXCL6 encodes a pro-inflammatory cytokine, and many studies have suggested that cytokines and other immune system functions are involved in glaucoma pathogenesis. BBS5 is a member of the BBS family of genes that affect ciliary functions, and ciliary bodies in the anterior chamber of the eye produce the aqueous fluid that affects intraocular pressure. Immune related functions and intraocular pressure are both important components of glaucoma pathology. The role of PITX2 in glaucoma may be mediated partly by

  7. 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

  8. 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

  9. 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 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......-gene expression. The XIST-expression based assay was correct in only 29/36 samples (81%). Our findings demonstrated that the AR-qPCR technique is a simple and reliable screening method for diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X-chromosomes....

  10. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention...... at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical......47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...

  11. 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.

  12. Performance of syndromic management for the detection and treatment of genital Chlamydia trachomatis, Neisseria gonorrhoeae and Trichomonas vaginalis among women attending antenatal, well woman and sexual health clinics in Papua New Guinea: a cross-sectional study.

    Science.gov (United States)

    Vallely, Lisa M; Toliman, Pamela; Ryan, Claire; Rai, Glennis; Wapling, Johanna; Gabuzzi, Josephine; Allen, Joyce; Opa, Christine; Munnull, Gloria; Kaima, Petronia; Kombuk, Benny; Kumbia, Antonia; Kombati, Zure; Law, Greg; Kelly-Hanku, Angela; Wand, Handan; Siba, Peter M; Mola, Glen D L; Kaldor, John M; Vallely, Andrew J

    2017-12-29

    Papua New Guinea (PNG) has among the highest estimated prevalences of genital Chlamydia trachomatis (CT), Neisseria gonorrhoeae (NG) and Trichomonas vaginalis (TV) of any country in the Asia-Pacific region. Diagnosis and treatment of these infections have relied on the WHO-endorsed syndromic management strategy that uses clinical presentation without laboratory confirmation to make treatment decisions. We evaluated the performance of this strategy in clinical settings in PNG. Women attending antenatal (ANC), well woman (WWC) and sexual health (SHC) clinics in four provinces were invited to participate, completed a face-to-face interview and clinical examination, and provided genital specimens for laboratory testing. We estimated the performance characteristics of syndromic diagnoses against combined laboratory diagnoses. 1764 women were enrolled (ANC=765; WWC=614; SHC=385). The prevalences of CT, NG and TV were highest among women attending ANC and SHC. Among antenatal women, syndromic diagnosis of sexually transmitted infection had low sensitivity (9%-21%) and positive predictive value (PPV) (7%-37%), but high specificity (76%-89%) and moderate negative predictive value (NPV) (55%-86%) for the combined endpoint of laboratory-confirmed CT, NG or TV. Among women attending WWC and SHC, 'vaginal discharge syndrome' had moderate to high sensitivity (72%-78%) and NPV (62%-94%), but low specificity (26%-33%) and PPV (8%-38%). 'Lower abdominal pain syndrome' had low sensitivity (26%-41%) and PPV (8%-23%) but moderate specificity (66%-68%) and high NPV (74%-93%) among women attending WWC, and moderate-high sensitivity (67%-79%) and NPV (62%-86%) but low specificity (26%-28%) and PPV (14%-33%) among SHC attendees. The performance of syndromic management for the detection and treatment of genital chlamydia, gonorrhoea and trichomonas was poor among women in different clinical settings in PNG. New diagnostic strategies are needed to control these infections and to prevent

  13. Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome: differential diagnosis of septic arthritis by regular detection of exceedingly high synovial cell counts.

    Science.gov (United States)

    Löffler, W; Lohse, P; Weihmayr, T; Widenmayer, W

    2017-08-01

    Pyogenic arthritis, pyoderma gangrenosum and acne syndrome was diagnosed in a 42-year-old patient, after an unusual persistency of high synovial cell counts had been noticed. Clinical peculiarities and problems with diagnosing septic versus non-septic arthritis are discussed.

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

    Czech Academy of Sciences Publication Activity Database

    Turner, G. G.; Meteyer, C. U.; Barton, H.; Gumbs, J. F.; Reeder, D. M.; Overton, B.; Banďouchová, H.; Bartonička, T.; Martínková, Natália; Pikula, J.; Zukal, Jan; Blehert, D. S.

    2014-01-01

    Roč. 50, č. 3 (2014), s. 566-573 ISSN 0090-3558 R&D Projects: GA ČR(CZ) GAP506/12/1064 Institutional support: RVO:68081766 Keywords : bats * Chiroptera * dermatomycosis * fungal infection * ultraviolet (UV) fluorescence * white-nose syndrome Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 1.355, year: 2014

  15. 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

  16. The sample of choice for detecting Middle East respiratory syndrome coronavirus in asymptomatic dromedary camels using real-time reversetranscription polymerase chain reaction.

    NARCIS (Netherlands)

    Mohran, K A; Farag, E A B; Reusken, C B E; Raj, V S; Lamers, M M; Pas, S D; Voermans, J; Smits, S L; Alhajri, M M; Alhajri, F; Al-Romaihi, H E; Ghobashy, H; El-Maghraby, M M; Al Dhahiry, S H S; Al-Mawlawi, N; El-Sayed, A M; Al-Thani, M; Al-Marri, S A; Haagmans, B L; Koopmans, M P G

    2016-01-01

    The newly identified Middle East respiratory syndrome coronavirus (MERS-CoV), which causes severe respiratory disease, particularly in people with comorbidities, requires further investigation. Studies in Qatar and elsewhere have provided evidence that dromedary camels are a reservoir for the virus,

  17. 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...

  18. Myelodysplastic Syndromes

    Science.gov (United States)

    ... blood cells, and the cells have a specific mutation in their DNA. Myelodysplastic syndrome with excess blasts — ... Chemicals linked to myelodysplastic syndromes include tobacco smoke, pesticides and industrial chemicals, such as benzene. Exposure to ...

  19. Moebius Syndrome

    Science.gov (United States)

    ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ...

  20. Pendred Syndrome

    Science.gov (United States)

    ... scan) to look for two characteristics of Pendred syndrome. One characteristic might be a cochlea with too few turns. ... Inner Ear Credit: NIH Medical Arts A second characteristic of Pendred syndrome is an enlarged vestibular aqueduct (see figure). The ...

  1. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and ...

  2. Ohtahara Syndrome

    Science.gov (United States)

    ... but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. What research is being done? The NINDS conducts and supports an extensive research program on seizures ...

  3. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  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 X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  5. 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 ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  6. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  7. 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 that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  8. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  9. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  10. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome Overview Dressler's syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). ... reducing its ability to pump blood efficiently. Constrictive pericarditis. Recurring or chronic inflammation can cause the pericardium ...

  11. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  12. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  13. Stigma in Iranian Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2010-04-01

    Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

  14. Pelacakan Virus Bercak Putih pada Udang Vaname (Litopenaeus vannamei di Lombok dengan Real-Time Polymerase Chain Reaction (DETECTION OF WHITE SPOT SYNDROME VIRUS IN LITOPENAEUS VANNAMEI IN LOMBOK ISLAND USING REAL-TIME POLYMERASE CHAIN REACTION

    Directory of Open Access Journals (Sweden)

    Lulu Arafani

    2016-03-01

    Full Text Available White spot syndrome virus (WSSV is one of the most threatening diseases in shrimp and othercrustaceans affecting global shrimp farming. Since firstly detected in Taiwan in 1992, the disease hasspread globally and followed with considerable socio-economic consequences. This research was performedto detect the WSSV infection in shrimp farming in Lombok Island’s (West Nusa Tenggara using real-timepolymerase chain reaction. Samples of vaname (Litopenaeus vannamei were collected from several shrimpfarming in Lombok. Results indicated that the spread of WSSV has reached shrimp farms in Lombok,especially in Lendang Jae, West Lombok. Therefore, a biosurveillance program is strongly recommendedto government to avoid and halt the spread of the disease in East Indonesia region .

  15. Velocardiofacial Syndrome

    Science.gov (United States)

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

    2009-01-01

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

  16. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.

    Science.gov (United States)

    Wada, Taizo; Yasui, Masahiro; Toma, Tomoko; Nakayama, Yuko; Nishida, Mika; Shimizu, Masaki; Okajima, Michiko; Kasahara, Yoshihito; Koizumi, Shoichi; Inoue, Masami; Kawa, Keisei; Yachie, Akihiro

    2008-09-01

    X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (gammac) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual gammac expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression.

  17. Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.

    Science.gov (United States)

    Chen, Chih-Ping; Su, Yi-Ning; Chang, Tung-Yao; Chern, Schu-Rern; Chen, Chen-Yu; Su, Jun-Wei; Wang, Wayseen

    2013-06-01

    To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and digital abnormalities in the fetus. She had undergone amniocentesis at 18 weeks of gestation because of maternal anxiety. Results of amniocentesis revealed a karyotype of 46,XX. A prenatal ultrasound at 32 weeks of gestation revealed a female fetus with a fetal biometry equivalent to 32 weeks, polyhydramnios with an increased amniotic fluid index of 26.1 cm, frontal bossing, midface hypoplasia, hypertelorism, Blake's pouch cyst with an apparent posterior fossa cyst in communication with the fourth ventricle on axial images, digital fusion, and bilateral syndactyly of the hands and feet. A DNA testing for the FGFR2 gene was immediately performed using uncultured amniocytes obtained by repeated amniocentesis, which revealed a heterozygous c.758C>G, CCT>CGT transversion leading to a p.Pro253Arg (P253R) mutation in the FGFR2 gene. Subsequently, a diagnosis of Apert syndrome was made. Molecular analysis of the FGFR2 gene in the parents did not reveal such a mutation. The fetus postnatally manifested frontal bossing, midface hypoplasia, and bilateral syndactyly of the hands (mitten hands) and feet. Prenatal diagnosis of polyhydramnios, frontal bossing, and midface hypoplasia associated with brain and digital abnormalities should include a differential diagnosis of Apert syndrome. A molecular analysis of FGFR2 using uncultured amniocytes is useful for rapid confirmation of Apert syndrome at prenatal diagnosis. Copyright © 2013. Published by Elsevier B.V.

  18. Early detection for cases of enterovirus- and influenza-like illness through a newly established school-based syndromic surveillance system in Taipei, January 2010 ~ August 2011.

    Science.gov (United States)

    Weng, Ting Chia; Chan, Ta Chien; Lin, Hsien Tang; Chang, Chia Kun Jasper; Wang, Wen Wen; Li, Zheng Rong Tiger; Cheng, Hao-Yuan; Chu, Yu-Roo; Chiu, Allen Wen-Hsiang; Yen, Muh-Yong; King, Chwan-Chuen

    2015-01-01

    School children may transmit pathogens with cluster cases occurring on campuses and in families. In response to the 2009 influenza A (H1N1) pandemic, Taipei City Government officials developed a School-based Infectious Disease Syndromic Surveillance System (SID-SSS). Teachers and nurses from preschools to universities in all 12 districts within Taipei are required to daily report cases of symptomatic children or sick leave requests through the SID-SSS. The pre-diagnosis at schools is submitted firstly as common pediatric disease syndrome-groups and re-submitted after confirmation by physicians. We retrieved these data from January 2010 to August 2011 for spatio-temporal analysis and evaluated the temporal trends with cases obtained from both the Emergency Department-based Syndromic Surveillance System (ED-SSS) and the Longitudinal Health Insurance Database 2005 (LHID2005). Through the SID-SSS, enterovirus-like illness (EVI) and influenza-like illness (ILI) were the two most reported syndrome groups (77.6% and 15.8% among a total of 19,334 cases, respectively). The pre-diagnosis judgments made by school teachers and nurses showed high consistency with physicians' clinical diagnoses for EVI (97.8%) and ILI (98.9%). Most importantly, the SID-SSS had better timeliness with earlier peaks of EVI and ILI than those in the ED-SSS. Furthermore, both of the syndrome groups in these two surveillance systems had the best correlation reaching 0.98 and 0.95, respectively (pTaipei, with ILI spreading faster. This novel system can identify early suspected cases of two important pediatric infections occurring at schools, and clusters from schools/families. It was also cost-effective (95.5% of the operation cost reduced and 59.7% processing time saved). The timely surveillance of mild EVI and ILI cases integrated with spatial analysis may help public health decision-makers with where to target for enhancing surveillance and prevention measures to minimize severe cases.

  19. Evaluation of monoclonal antibody-based immunohistochemistry for the detection of European and North American Porcine reproductive and respiratory syndrome virus and a comparison with in situ hybridization and reverse transcription polymerase chain reaction.

    Science.gov (United States)

    Han, Kiwon; Seo, Hwi Won; Oh, Yeonsu; Kang, Ikjae; Park, Changhoon; Kang, Sang Hoon; Kim, Sung-Hoon; Lee, Bog-Hieu; Kwon, Byungjoon; Chae, Chanhee

    2012-07-01

    The objective of the present study was to compare the ability of 2 monoclonal antibodies (mAbs; SDOW17 and SR30) to detect types 1 and 2 Porcine reproductive and respiratory syndrome virus (PRRSV) in formalin-fixed, paraffin-embedded (FFPE) lung tissues by immunohistochemistry (IHC) and to compare the immunohistochemical results with in situ hybridization (ISH) and reverse transcription nested polymerase chain reaction (RT-nPCR) detection techniques. Lungs from 30 experimentally infected pigs (15 pigs with each genotype of PRRSV) and 20 naturally infected pigs (10 pigs with each genotype of PRRSV) with types 1 and 2 PRRSV, respectively, were used for the IHC, ISH, and RT-nPCR analyses. The SR30 mAb-based IHC detected significantly more type 1 PRRSV-positive cells in the accessory and caudal lobes from the experimentally infected pigs at 7 (P = 0.025) and 14 (P = 0.018) days postinoculation, respectively, compared to the SDOW17 mAb-based IHC. The results demonstrated that SR30 mAb-based IHC is useful for detecting both types 1 and 2 PRRSV antigen in FFPE lung tissues.

  20. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

  1. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma.

    Science.gov (United States)

    Langlois, Sylvie; Brock, Jo-Ann

    2013-02-01

    To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13. PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1). Recommendations 1. Non-invasive prenatal testing using massive parallel sequencing of cell-free fetal DNA to test for trisomies 21, 18, and 13 should be an option available to women at increased risk in lieu of amniocentesis. Pretest counselling of these women should include a discussion of the limitations of non-invasive prenatal testing. (II-2A) 2. No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing. (II-2A) 3. Although testing of cell-free fetal DNA in maternal plasma appears very promising as a screening test for Down syndrome and other trisomies, studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach using biochemical serum markers with or without fetal

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

    International Nuclear Information System (INIS)

    Mkaouar-Rebai, Emna; Tlili, Abdelaziz; Masmoudi, Saber; Charfeddine, Ilhem; Fakhfakh, Faiza

    2008-01-01

    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

  3. 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.

  4. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

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

  5. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  6. 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

    -gene expression. The XIST-expression based assay was correct in only 29/36 samples (81%). Our findings demonstrated that the AR-qPCR technique is a simple and reliable screening method for diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X-chromosomes.......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...... 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...

  7. Sensitivity and specificity of Ga-67 pulmonary scans for the detection of p. carinii pneumonitis in patients with the acquired immunodefficiency syndrome and pulmonary symptoms

    International Nuclear Information System (INIS)

    Hattner, R.S.; Sollitto, R.A.; Golden, J.A.; Coleman, D.L.; Okerlund, M.D.

    1984-01-01

    Acquired immunodeficiency syndrome (AIDS) is a severe disorder of cellular immunity of obscure etiology. Since its original recognition in 1981 the incidence of AIDS has doubled in each of the succeeding six months. The most common causes of death in AIDS are Kaposi's sarcoma and p. carinii pneumonia (PCP). The latter is treatable if diagnosed early, and AIDS patients (pts) may suffer recurrent episodes of PCP. Since the invasive technique of fiberoptic bronchoscopy with transbronchial biopsy, brushing, and bronchialveolar lavage are necessary for diagnosis and follow-up a noninvasive method of categorizing which AIDS pts require this procedure would be most welcome. Twenty-one pts with the syndrome of AIDS and pulmonary symptoms underwent Ga-67 scans of the thoracic region, and fibroptic bronchoscopy with washings, and brush and transbronchial biopsy. Pulmonary activity was graded in a blinded fashion by three experienced observers as follows: 1, less than, or equal to adjacent soft tissues; 2, greater than adjacent soft tissues, but less than liver; 3, equal to liver; 4, greater than liver. Eleven pts had documented PCP, and the remaining ten had non-specific pulmonary inflammation, or other, in some cases, putative, infections. The sensitivity and specificity of Ga-67 scans ≥ grade 3 was 100% and 90% respectively. These results suggests a useful role for graded Ga-67 scans in AIDS pts with pulmonary symptoms, permitting selection of pts with a high risk of PCP for further mandatory invasive investigation of this otherwise usually fatal disease

  8. Joubert Syndrome

    Science.gov (United States)

    ... syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of ... physical, occupational, and speech therapy may benefit some children. Infants with abnormal ...

  9. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  10. Angelman Syndrome

    Science.gov (United States)

    ... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, ... Publications Definition Angelman ...

  11. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  12. [Ballantyne syndrome or mirror syndrome].

    Science.gov (United States)

    Torres-Gómez, Luis Guillermo; Silva-González, María Eugenia; González-Hernández, Rigoberto

    2010-11-01

    Ballantyne syndrome or mirror syndrome is a triad consisting of the presence of fetal hydrops, generalized edema placentomegaly mother. May be related to any cause of fetal hydrops. The fetal prognosis is poor in untreated cases, the mother has reference to be the cause or the termination of pregnancy. Present the case of a 26-year-old who developed mirror syndrome secondary to non-immune fetal hydrops of unknown origin, accompanied by preeclampsia.

  13. Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

    Science.gov (United States)

    Miura, Kentaro; Kondo, Ryoichi; Kurai, Makoto; Ishii, Keiko

    2015-12-01

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region. BHD commonly accompanies renal tumors, fibrofolliculomas, multiple pulmonary cysts, and spontaneous pneumothorax. We report a case of a young Japanese woman in whom asymptomatic bilateral pneumothorax was found incidentally in a health screening, which led to the diagnosis of BHD. She had developed neither renal tumors nor fibrofolliculomas. However, her father, uncle, and aunt also experienced pneumothorax. In Japan, BHD is not yet well known because skin-related symptoms of fibrofolliculomas are sometimes absent unlike in most cases in Europe and the United States. On the basis of this case, we propose that BHD should be considered at the time of pneumothorax examination.

  14. Probe-free real-time reverse transcription polymerase chain reaction assays for the detection and typing of porcine reproductive and respiratory syndrome virus in Canada

    Science.gov (United States)

    Eschbaumer, Michael; Li, Wansi (May); Wernike, Kerstin; Marshall, Frank; Czub, Markus

    2015-01-01

    Porcine reproductive and respiratory syndrome (PRRS) has tremendous impact on the pork industry in North America. The molecular diagnosis of infection with PRRS virus (PRRSV) is hampered by its considerable strain diversity. In this study, 43 previously published or newly developed primers for probe-free real-time reverse transcription polymerase chain reaction (RT-PCR) were evaluated on their sensitivity, specificity, reproducibility, and repeatability, using a diverse panel of 36 PRRSV strains as well as other arteriviruses and unrelated porcine viruses. Three primer pairs had excellent diagnostic and analytical sensitivity on par with a probe-based reference assay, absolute specificity to virus genotype and species, as well as over 95% reproducibility and repeatability across a wide dynamic range. PMID:26130848

  15. 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....

  16. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  17. Passwell syndrome

    Directory of Open Access Journals (Sweden)

    Muhammed K

    2003-03-01

    Full Text Available There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.

  18. 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.

  19. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  20. Tourette Syndrome

    Science.gov (United States)

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

  1. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  2. Which insulin resistance-based definition of metabolic syndrome has superior diagnostic value in detection of poor health-related quality of life? Cross-sectional findings from Tehran Lipid and Glucose Study.

    Science.gov (United States)

    Deihim, Tina; Amiri, Parisa; Taherian, Reza; Tohidi, Maryam; Ghasemi, Asghar; Cheraghi, Leila; Azizi, Fereidoun

    2015-12-09

    The superiority of the diagnostic power of different definitions of metabolic syndrome (MetS) in detecting objective and subjective cardiovascular outcomes is under debate. We sought to compare diagnostic values of different insulin resistance (IR)-based definitions of MetS in detecting poor health-related quality of life (HRQoL) in a large sample of Tehranian adults. This cross-sectional study conducted within the framework of the Tehran Lipid and Glucose Study on a total sample of 742 individuals, aged ≥ 20 years. Metabolic syndrome was defined according to the World Health Organization (WHO), the European Group for the study of Insulin Resistance (EGIR), and the American Association of Clinical Endocrinology (AACE). Health-related quality of life was assessed using the Short Form Health Survey (SF-36). Logistic regression analysis and Receiver Operating Characteristic (ROC) curve were used to investigate the impact of the three IR-based definitions of MetS on HRQoL and compare their discriminative powers in predicting poor HRQoL. Compared with other definitions, the WHO definition identified more participants with MetS (41.8 %). Although the AACE definition had higher adjusted odds ratios for reporting poor physical HRQoL (OR: 1.95; CI: 0.84-4.53 and OR: 1.01; CI: 0.55-1.85 in men and women respectively) and mental HRQoL (OR: 0.97; CI: 0.41-2.28 and OR: 1.00; CI: 0.56-1.79 in men and women respectively), none of the three studied definitions were significantly associated with poor physical or mental HRQoL in either gender; nor did ROC curves show any significant difference in the discriminative powers of IR-based definitions in detecting poor HRQoL in either gender. None of the three studied IR-based definitions of MetS could significantly detect poor HRQoL in the physical or mental domains, indicating no significant superior diagnostic value for any of these definitions.

  3. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Kaercher, T

    2004-06-01

    The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes. Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity. Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life. Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

  5. Validation of a novel real-time PCR assay for detection of HLA-B*15:02 allele for prevention of carbamazepine - Induced Stevens-Johnson syndrome/Toxic Epidermal Necrolysis in individuals of Asian ancestry.

    Science.gov (United States)

    Nguyen, Dinh Van; Vidal, Christopher; Chu, Hieu Chi; Do, Nga Thi Quynh; Tran, Tu Thi Linh; Le, Huong Thi Minh; Fulton, Richard B; Li, Jamma; Fernando, Suran L

    2016-12-01

    Screening for the HLA-B*15:02 allele has been recommended to prevent carbamazepine (CBZ) - induced Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) in individuals with Asian ancestry. We aimed, therefore, to develop and validate a robust and inexpensive method for detection of the HLA-B*15:02 allele. Real-time PCR using TaqMan® probes followed by SYBR® Green was used to detect the HLA-B*15:02 allele prior to treatment with CBZ therapy. A total of 121 samples were tested. The assay has a sensitivity of 100% (95% CI: 76.84-100.0%), a specificity of 100% (95% CI: 96.61-100%), a positive predictive value of 100% (95% CI: 76.84-100%) and a negative predictive value of 100.0% (95% CI: 96.61-100.0%), respectively. There was 100% agreement between our results and genotyping using Luminex SSO/SBT/SSP. The lowest limit of detection of the TaqMan® probe is 0.05ng/μl and the SYBR® Green is 0.5ng/μl of DNA. The unit cost of using the TaqMan® probe followed by SYBR® Green is only $4.7 USD. We developed a novel assay for the detection of the HLA-B*15:02 allele, which is robust, inexpensive and suitable for screening individuals of Asian ancestry in the prevention of CBZ-induced SJS/TEN. Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  6. [Primary antiphospholipid syndrome].

    Science.gov (United States)

    Popa, Angela; Voinea, Liliana; Pop, Monica; Stana, Daniela; Dascalu, Ana-Maria; Alexandrescu, Cristina; Ciuluvica, R

    2008-01-01

    Antiphospholipid syndrome (APS) is a disorder characterised by recurrent arterial or venous thrombosis and/or pregnancy losses, in the presence of persistently elevated levels of anticardiolipin antibodies and/or evidence of circulating lupus anticoagulant (these abnormalities are detected by blood tests). Primary APS occurs when there is no evidence of associated diseases. APS in the presence of an underlying disease, usually systemic lupus erythematosus, is called secondary APS.

  7. 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

  8. Resultados preliminares del pesquisaje neonatal inmunohistoquímico para la detección del síndrome de frágil X Preliminary results of the immunohistochemical neonatal screening for detecting the fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Roberto Lardoeyt Ferrer

    2004-09-01

    Full Text Available El síndrome de frágil X constituye la entidad genética que ocupa el primer lugar como causa de retraso mental hereditario, caracterizado por un fenotipo físico y psiconeuroconductual muy peculiar. Han sido innumerables los estudios que se han realizado con el fin de dilucidar la función del gen y la localización de la proteína que la misma codifica relacionado con esta afección, entre los cuales se encuentran las técnicas inmunohistoquímicas. Se aplicó la técnica inmunohistoquímica con el objetivo de detectar individuos con riesgo genético de presentar el síndrome de frágil X a través de un pesquisaje neonatal en un período de 14 meses. Se pesquisaron un total de 2 914 recién nacidos varones, de los cuales 2 414 obtuvieron resultados inmunohistoquímicos. Diez casos fueron proteína negativos, en los cuales su desarrollo psicomotor fue evaluado exhaustivamente durante un período de 3 años, y fue normal; no se detectó ningún individuo con la enfermedad.The Fragile X syndrome is the genetic entity that is the first cause of hereditary mental retardation characterized by a very peculiar physical and psychoneuroconductal phenotype. Innumerable studies, including the immunohistochemical techniques, have been conducted aimed at dilucidating the gene's function and the localization of the protein that it codified related to this affection. The immunohistochemical techique was used in order to detect individuals at genetical risk for presenting Fragile X syndrome by neonatal screening in 14 months. A total of 2 914 male infants were screened of whom 2 414 showed histochemical results. 10 cases tested negative protein. Their psychomotor development was exhaustively evaluated for 3 years and it was normal. The disease was not detected in any individual.

  9. A two-tube multiplex real-time RT-PCR assay for the detection of four hemorrhagic fever viruses: severe fever with thrombocytopenia syndrome virus, Hantaan virus, Seoul virus, and dengue virus.

    Science.gov (United States)

    Li, Zhifeng; Qi, Xian; Zhou, Minghao; Bao, Changjun; Hu, Jianli; Wu, Bin; Wang, Shenjiao; Tan, Zhongmin; Fu, Jianguang; Shan, Jun; Zhu, Yefei; Tang, Fenyang

    2013-09-01

    The aim of this study was to develop and evaluate a two-tube multiplex real-time RT-PCR assay for the detection and identification of four viral hemorrhagic fever (VHF) pathogens, severe fever with thrombocytopenia syndrome virus (SFTSV), Hantaan virus (HTNV), Seoul virus (SEOV), and dengue virus (DENV), from human clinical samples. The two-tube multiplex real-time RT-PCR assay we developed has a sensitivity of 10 copies/μL for each of the targets, and the performance was linear within the range of at least 10(7) transcript copies. Moreover, we evaluated the specificity of the assay using other virus RNA as template, and found no cross-reactivity. This new assay is able to detect SFTSV, HTNV, SEOV and DENV in two reactions and brings a cost of 40 % compared to separate reactions. Evaluation of this assay with clinical serum samples from laboratory-confirmed patients and healthy donors showed 100 % clinical diagnostic sensitivity and over 99 % specificity. The assay was applied for scanning 346 clinical samples collected from patients admitted to the hospital with suspected VHF and compared with virus isolation and immunofluorescence assay (IFA). The assay indentified 59 SFTSV-, 12 HTNV-, 11 SEOV- and 9 DENV-positive samples and showed higher sensitivity. This assay thus provides a reliable and cost-effective screening tool for early clinical diagnosis of SFTSV, HTNV, SEOV and DENV in the acute phase.

  10. 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

  11. Bouveret's syndrome

    International Nuclear Information System (INIS)

    Rehman, A.; Hasan, Z.; Saeed, A.; Abdullah, K.

    2008-01-01

    Gastric Outlet Obstruction (GOO) due to impaction of a gallstone in the duodenum after migration through a bilioduodenal fistula is known as Bouveret's syndrome. Its clinical symptoms are entirely vague and nonspecific. Because of its rarity, insidiousness and unpredictable symptomatology. Bouveret's syndrome is never thought of in the differential diagnosis as aetiology of gastric outlet obstruction. Recent advances in fiberoptics technology, advent of modern imaging modalities and minimally-invasive techniques like endoscopy and laparoscopy has brought a great revolution in the management of Bouveret's syndrome and have tremendously decreased morbidity and mortality associated with this rare clinical entity. (author)

  12. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  13. Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

    Science.gov (United States)

    Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

    2013-05-01

    The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

  14. CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.

    Science.gov (United States)

    Nagy, Nikoletta; Vályi, Péter; Csoma, Zsanett; Sulák, Adrienn; Tripolszki, Kornélia; Farkas, Katalin; Paschali, Ekaterine; Papp, Ferenc; Tóth, Lola; Fábos, Beáta; Kemény, Lajos; Nagy, Katalin; Széll, Márta

    2014-05-01

    Papillon-Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A summary of recurrent mutations identified in Hungarian patients and a review of published mutations is presented in this update. Comparison of clinical features in affected families with the same mutation strongly confirm that identical mutations of the CTSC gene can give rise to multiple different phenotypes, making genotype-phenotype correlations difficult. Variable expression of the phenotype associated with the same CTSC mutation may reflect the influence of other genetic and/or environmental factors. Most mutations are missense (53%), nonsense (23%), or frameshift (17%); however, in-frame deletions, one splicing variant, and one 5' untranslated region (UTR) mutation have also been reported. The majority of the mutations are located in exons 5-7, which encodes the heavy chain of the cathepsin C protein, suggesting that tetramerization is important for cathepsin C enzymatic activity. All the data reviewed here have been submitted to the CTSC base, a mutation registry for PLS at http://bioinf.uta.fi/CTSCbase/.

  15. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Beaujard, M-P; Jouannic, J-M; Bessières, B; Borie, C; Martin-Luis, I; Fallet-Bianco, C; Portnoï, M-F

    2005-06-01

    To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia. Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild. Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype.

  16. 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.

  17. 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.)

  18. A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.

    Science.gov (United States)

    Tzeng, C-C; Tsai, L-P; Chang, Y-K; Hung, Y-J; Chang, Y-Y; Su, Y-P; Jiang, J-J; Liang, H-M

    2017-08-01

    Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only 2 carriers were in the low-risk group, which indicated a prevalence of 1 of 1955 women (95% confidence interval: 1/7156-1/539). A total of 100 carriers were found to be in the high-risk group, thus revealing a significantly higher frequency than the low-risk group (100/725 vs 2/3911, P<0.0001). Eight of the 14 foetuses that inherited the maternal mutant allele were verified to have a full mutation, with the smallest maternal pre-mutation allele carrying 56 CGG repeats. The overall findings confirmed that the carrier prevalence among low-risk women in Taiwan is significantly lower than that reported in western countries. Therefore, the most important step for preventing FXS in Taiwan would be to focus on high-risk women by promoting general awareness of this disease and spreading knowledge regarding the benefits of carrier screening and prenatal testing. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

    Science.gov (United States)

    Vieira, Gustavo H; Rodriguez, Jayson D; Carmona-Mora, Paulina; Cao, Lei; Gamba, Bruno F; Carvalho, Daniel R; de Rezende Duarte, Andréa; Santos, Suely R; de Souza, Deise H; DuPont, Barbara R; Walz, Katherina; Moretti-Ferreira, Danilo; Srivastava, Anand K

    2012-02-01

    Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ~139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS.

  20. Premenstrual Syndrome (PMS) FAQ

    Science.gov (United States)

    ... Search FAQs Premenstrual Syndrome (PMS) Page Navigation ▼ ACOG Pregnancy Book Premenstrual Syndrome (PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish ...

  1. Hypoglycemia in Coffin-Siris syndrome.

    Science.gov (United States)

    Imaizumi, K; Nakamura, M; Masuno, M; Makita, Y; Kuroki, Y

    1995-10-23

    We describe a further patient with the Coffin-Siris syndrome who presented at 4 months with recurrent hypoglycemia attacks. Detailed examination was undertaken at 7 months but the cause of hypoglycemia was not detected. Hypoglycemia seems to be a previously undescribed finding in the Coffin-Siris syndrome.

  2. CASE REPORT Moebius syndrome with macular hyperpigmentation ...

    African Journals Online (AJOL)

    Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; ...

  3. Reye's Syndrome

    Science.gov (United States)

    ... vomiting Diarrhea Reye's syndrome Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  4. Turner Syndrome

    Science.gov (United States)

    ... girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? ... to active partners in their health care. This fact sheet is also available in Spanish at www. ...

  5. Alport syndrome

    Science.gov (United States)

    ... have equally severe disease. Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females ... and girls have hearing loss during childhood. With ADAS, it occurs later in life. Hearing loss usually ...

  6. Sotos Syndrome

    Science.gov (United States)

    ... and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial ...

  7. 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 ...

  8. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  9. Gilbert's Syndrome

    Science.gov (United States)

    ... doctor before taking new medications. Also, having certain types of Gilbert's syndrome may increase your risk of ... of Nondiscrimination Advertising Mayo Clinic is a not-for-profit organization ...

  10. Compartment syndrome

    Science.gov (United States)

    ... term (chronic) compartment syndrome can be caused by repetitive activities, such as running. The pressure in a compartment ... or loosened to relieve the pressure Stopping the repetitive activity or exercise, or changing the way it's done ...

  11. Aicardi Syndrome

    Science.gov (United States)

    ... See More About Research The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand ... Publications Definition Aicardi ...

  12. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  13. Gerstmann's Syndrome

    Science.gov (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  14. Usher Syndrome

    Science.gov (United States)

    ... with age. Decline in hearing and vision varies. Children with type 3 Usher syndrome often develop hearing loss by adolescence, requiring hearing aids by mid-to-late adulthood. Night blindness also usually begins during adolescence. Blind spots appear ...

  15. Piriformis Syndrome

    Science.gov (United States)

    ... may order additional tests. Computerized tomography (CT) and magnetic resonance imaging (MRI) scans cannot diagnose piriformis syndrome, ... you are sitting, driving or standing. Don’t lift by bending over. Lift an object by bending ...

  16. Turner Syndrome

    Science.gov (United States)

    ... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...

  17. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  18. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  19. Cushing syndrome

    Science.gov (United States)

    ... mellitus High blood pressure (hypertension) Increased cholesterol and triglycerides (hyperlipidemia) Women with Cushing syndrome may have: Excess ... Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  20. Complete direct sequencing of the entire AR gene in 45 unrelated patients with androgen insensitivity syndrome: Mutations identified in 32 patients (18 novel mutations), no mutation detected in 13 other patients (29%)

    Energy Technology Data Exchange (ETDEWEB)

    Mebarki, F.; Forest, M.G.; Josso, N. [Hospital Debrousse, Lyon (France)] [and others

    1994-09-01

    The androgen insensivity syndrome (AIS) is a recessive X-linked disorder resulting from a deficient function of the androgen receptor (AR). The human AR gene has 3 functional domains: N-terminal encoded by exon 1, DNA-binding domain encoded by exons 2 and 3, and androgen-binding domain encoded by exons 4 to 8. In order to characterize the molecular defects of the AR gene in AIS, the entire coding regions and the intronic bording sequences of the AR gene were amplified by PCR before automatic direct sequencing in 45 patients. Twenty seven different point mutations were found in 32 unrelated AIS patients: 18 with a complete form (CAIS), 14 with a partial form (PAIS); 18 of these mutations are novel mutations, not published to date. Only 3 mutations were repeatedly found: R804H in 3 families; M780I in 3 families and R774C in 2 families. For 26 patients out of the 32 found to have a mutation, maternal DNA was collected and sequenced: 6 de novo mutations were detected (i.e. 23% of the cases). Finally, no mutation was detected in 13 patients (29%): 7 with CAIS and 6 familial severe PAIS. The latter all presented with perineal hypospadias, micropenis, 4 out of 6 being raised as girl. Diagnosis of AIS in these 13 families in whom no mutation was detected is supported by the following criteria: clinical data, familial history (2 or 3 index cases in the same family), familial segregation of the polymorphic CAG repeat of the AR gene. Mutations in intronic regions or the promoter of the AR gene could not explain all cases of AIS without mutations in the AR coding regions, because AR binding (performed in 9 out of 13) was normal in 6, suggesting the synthesis of an AR protein. This situation led us to speculate that another X-linked factor associated with the AR could be implicated in some cases of AIS.

  1. Metabolic syndrome in urban city of North-Western Nigeria ...

    African Journals Online (AJOL)

    ... elevated (49.8%). Conclusion: Metabolic syndrome is common in residents of North- Western Nigeria, commoner in the females than males. Risk factors for metabolic syndrome should be detected in normal individuals for implementing effective preventive measures. Key words: Metabolic syndrome, dyslipidemia, obesity ...

  2. 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.)

  3. Low sensitivity for the metabolic syndrome to detect uric acid elevations in females and non-Hispanic-black male adolescents: an analysis of NHANES 1999-2006.

    Science.gov (United States)

    DeBoer, Mark D; Gurka, Matthew J

    2012-02-01

    Uric acid is tightly linked to the metabolic syndrome (MetS) and among adults higher uric acid levels are associated with future risk for diabetes, cardiovascular disease, hypertension and renal disease. Evaluate the sensitivity of MetS to identify adolescents with elevated uric acid levels on a race/ethnicity and gender-specific basis. We evaluated 3296 male and female adolescents 12-19 y participating in the National Health and Nutrition Evaluation Survey 1999-06, comprised of 67.6% non-Hispanic whites, 15.1% non-Hispanic blacks, and 17.3% Hispanics. We used a definition of MetS modified for use in adolescents and evaluated the sensitivity of a diagnosis of MetS to identify individuals with uric acid elevations (approximately the 95th percentile of uric acid by gender among normal-weight adolescents). When used as a screening test to identify individuals with uric acid elevations MetS performed more poorly among females (18.0%) than among males (37.0%) (puric acid levels among females (non-Hispanic-white 15.5%, non-Hispanic-black 19.4%, Hispanic 26.5%, p>0.05). Current criteria to diagnose MetS exhibit racial/ethnic and gender differences in the ability to identify adolescents with elevated uric acid levels, performing poorly among non-Hispanic-black males and among females. Given emerging data regarding the ability of uric acid elevations for predicting future disease, these data may have implications regarding the use of MetS as a marker of risk among all gender and racial/ethnic groups. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  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.

    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.

  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. Carotid Stump Syndrome

    Directory of Open Access Journals (Sweden)

    Lara Toufic Dakhoul MD

    2014-08-01

    Full Text Available Objectives . To highlight the case of a patient with multiple transient ischemic attacks and visual disturbances diagnosed with carotid stump syndrome and managed with endovascular approach. Case Presentation . We present the case of a carotid stump syndrome in an elderly patient found to have moderate left internal carotid artery stenosis in response to an advertisement for carotid screening. After a medical therapeutic approach and a close follow-up, transient ischemic attacks recurred. Computed tomographic angiography showed an occlusion of the left internal carotid artery and the presence of moderate stenosis in the right internal carotid artery, which was treated by endovascular stenting and balloon insertion. One month later, the patient presented with visual disturbances due to the left carotid stump and severe stenosis of the left external carotid artery that was reapproached by endovascular stenting. Conclusion . Considerations should be given to the carotid stump syndrome as a source of emboli for ischemic strokes, and vascular assessment could be used to detect and treat this syndrome.

  7. Turner syndrome and anesthesia.

    Science.gov (United States)

    Maranhão, Marcius Vinícius M

    2008-01-01

    Turner syndrome is a frequent and complex genetic abnormality affecting women, being associated with a wide variety of anatomical and physiological changes, especially related with the airways and cardiovascular system. The objective of this report was to review the anatomopathologic changes of this syndrome that concern the anesthesiologist the most, discuss the perioperative management and review the literature regarding the anesthetic conduct in those patients. Turner syndrome is a genetic disorder characterized by an abnormality in the number or morphology of the sex chromosome. The most frequent abnormality is the absence of a sex chromosome, resulting in the 45X karyotype and a phenotype composed of gonadal dysgenesis. The main anatomo-physiological changes pertaining the anesthesiologist include a short neck, and maxillary and mandibular hipoplasia, which might be responsible for difficult airways. The shorter length of the trachea, as well as the higher location of its bifurcation, can predispose to bronchial intubation and accidental endotracheal extubation when the tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastrointestinal disorders, liver and kidney changes, as well as osteoarticular involvement, besides ophthalmologic and hearing impairments, are very frequent, and should be detected during the pre-anesthetic evaluation. General or regional anesthesia seems to be safe for those patients. Turner syndrome is a genetic abnormality with important anatomo-physiological abnormalities important to the anesthesiologist. The knowledge of this disorder allows for a safer anesthetic management with low perioperative morbimortality.

  8. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Research Home / Metabolic Syndrome Metabolic Syndrome What Is Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  9. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... Home / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  10. Learning about WAGR Syndrome

    Science.gov (United States)

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  11. Toxic Shock Syndrome

    Science.gov (United States)

    ... may also be caused by toxins produced by group A streptococcus (strep) bacteria. Toxic shock syndrome has been associated ... syndrome. The syndrome can also be caused by group A streptococcus (strep) bacteria. Risk factors Toxic shock syndrome can ...

  12. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium ...

  13. What Causes Down Syndrome?

    Science.gov (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Down syndrome? Down syndrome is caused by a random error ... The Down Syndrome Registry . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  14. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

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

  15. Depression following acute coronary syndrome

    DEFF Research Database (Denmark)

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

    2016-01-01

    .8 % developed a recurrent depression. Most patient characteristics (demographic factors, socioeconomic status, psychosocial factors, health-related behavioural factors, somatic comorbidities, and severity of acute coronary syndrome) were significantly associated with increased HRs for both early and later......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...

  16. Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

    Science.gov (United States)

    Armangue, Thais; Orsini, Joseph J; Takanohashi, Asako; Gavazzi, Francesco; Conant, Alex; Ulrick, Nicole; Morrissey, Mark A; Nahhas, Norah; Helman, Guy; Gordish-Dressman, Heather; Orcesi, Simona; Tonduti, Davide; Stutterd, Chloe; van Haren, Keith; Toro, Camilo; Iglesias, Alejandro D; van der Knaap, Marjo S; Goldbach Mansky, Raphaela; Moser, Anne B; Jones, Richard O; Vanderver, Adeline

    2017-11-01

    Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS. In this study, we explored C26:0 Lyso-PC levels and IFN signatures in newborn blood spots and post-natal blood samples in 19 children with a molecular and clinical diagnosis of AGS and in the blood spots of 22 healthy newborns. We used Nanostring nCounter™ for IFN-induced gene analysis and a high-performance liquid chromatography with tandem mass spectrometry (HPLC MS/MS) newborn screening platform for C26:0 Lyso-PC analysis. Newborn screening cards from patients across six AGS associated genes were collected, with a median disease presentation of 2months. Thirteen out of 19 (68%) children with AGS had elevations of first tier C26:0 Lyso-PC (>0.4μM), that would have resulted in a second screen being performed in a two tier screening system for X-linked adrenoleukodystrophy (X-ALD). The median (95%CI) of first tier C26:0 Lyso-PC values in AGS individuals (0.43μM [0.37-0.48]) was higher than that seen in controls (0.21μM [0.21-0.21]), but lower than X-ALD individuals (0.72μM [0.59-0.84])(p<0.001). Fourteen of 19 children had elevated expression of IFN signaling on blood cards relative to controls (Sensitivity 73.7%, 95%CI 51-88%, Specificity 95%, 95% CI 78-99%) including an individual with delayed disease presentation (36months of age). All five AGS patients with negative IFN signature at birth had RNASEH2B mutations. Consistency of agreement between IFN signature in neonatal and post-natal samples was high (0.85). This suggests that inflammatory markers

  17. 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.

  18. Is It Antiphospholipid Syndrome?

    Directory of Open Access Journals (Sweden)

    Maria Chiara Ditto

    2010-01-01

    Full Text Available The diagnosis of bacterial endocarditis remains a challenge, as nearly half of cases develop in the absence of preexistent heart disease and known risk factors. Not infrequently, a blunted clinical course at onset can lead to erroneous diagnoses. We present the case of a 47-year-old previously healthy man in which a presumptive diagnosis of antiphospholipid syndrome was made based on the absence of echocardiographically detected heart involvement, a negative blood culture, normal C-reactive protein (CRP levels, a positive lupus anticoagulant (LAC test, and evidence of splenic infarcts. The patient eventually developed massive aortic endocarditic involvement, with blood cultures positive for Streptococcus bovis, and was referred for valvular replacement. This case not only reminds us of the diagnostic challenges of bacterial endocarditis, but also underlines the need for a critical application of antiphospholipid syndrome diagnostic criteria.

  19. Breast cancer predisposition syndromes.

    Science.gov (United States)

    Hemel, Deborah; Domchek, Susan M

    2010-10-01

    A small, but important, percentage of breast cancer cases is caused by the inheritance of a single copy of a mutated gene. BRCA1 and BRCA2 are the genes most commonly associated with inherited breast cancer; however, mutations in TP53 and PTEN cause Li-Fraumeni syndrome and Cowden syndrome, respectively, both of which are associated with high lifetime risks of breast cancer. Advances in the field of breast cancer genetics have led to an improved understanding of detection and prevention strategies. More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer. Copyright 2010 Elsevier Inc. All rights reserved.

  20. 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

  1. [Epidemiological significance of the metabolic syndrome].

    Science.gov (United States)

    Horáková, D; Azeem, K; Dumbrovská, L; Vlčková, J; Horák, V; Kollárová, H

    From an epidemiological point of view, the metabolic syndrome is a group of risk factors causally, rather than coincidentally, related to insulin resistance. The metabolic syndrome is a condition with relatively high prevalence rates in both the Czech Republic and in other developed countries. There is a clear trend of increasing prevalence in both sexes depending on age. In the Czech Republic, the syndrome is less common in females (25.5%) than in males (37.6%). Epidemiological studies found white (Europoid race) males to be at higher risk due to abdominal obesity. The definition of the metabolic syndrome has evolved over time and helps to identify individuals at high risk of developing cardiovascular disease and type 2 diabetes, hence the use of the term cardiometabolic syndrome. Early detection of metabolic syndrome symptoms including insulin resistance should be performed mainly by general practitioners as part of regular check-ups.

  2. Use of pcr-rflp of thefla a gene for detection and subtyping of Campylobacter jejuni strains Potentially related to Guillain-barré syndrome, isolated from humans and animals

    Directory of Open Access Journals (Sweden)

    E. Scarcelli

    2009-12-01

    Full Text Available The objectives of the present study were the subtyping of Campylobacter jejuni subsp. jejuni strains obtained from humans and different animal species using PCR-RFLP, and the detection, by means of the same technique, of strains related to serotype PEN O19:LIO 7, the main C. jejuni serotype linked to Guillain-Barré Syndrome (GBS. Seventy C. jejuni strains isolated from human feces (n=33, primates (n=15, dogs (n=5, swine (n=2, bovines (n=1, abortion material from goats (n=2 and poultry carcasses (n=12, all collected in the state of São Paulo, were subtyped by means of PCR-RFLP of fla A gene, using restriction endonucleases Hae III, Afa I and Mbo I. Seven subtypes were observed when using the enzyme Hae III; eight when using Mbo I; and seven when using Afa I. The combination of the three endonucleases led to 16 fla-RFLP subtypes, from which ten subtypes shared strains of human and animal origin. From these, seven subtypes were observed in human and broiler strains. In eight subtypes, the other animal species shared patterns with human strains. It was inferred that, besides broilers, swine, goats, dogs and primates may be sources of infection for human in São Paulo. PCR-RFLP is a highly discriminatory technique that may be applied to molecular epidemiology studies of samples from different origins. Besides, the study also enabled the detection of two human strains and two primate strains related to serotype PEN O19: LIO 7.

  3. 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.

  4. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  5. Dressler Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Ceylan

    2016-02-01

    Full Text Available Dressler Syndrome (DS is a febrile illness secondary to an inflammatory reaction involving the pleura and pericardium. It is more common in patients who have undergone surgery that involves opening the pericardium. However, DS has also been described following myocardial infarction and as an unusual complication after percutaneous procedures such as coronary stent implantation, after implantation of epicardial pacemaker leads and transvenous pacemaker leads, and following blunt trauma, stab wounds, and heart puncture. Pericardial effusions often accompany the syndrome and may develop into early or late postoperative cardiac tamponade and even recurrent cardiac tamponade. The syndrome is also characterized by pericardial or pleuritic pain, pleural effusions, pneumonitis, and abnormal ECG and radiography findings.

  6. BRUGADA SYNDROME

    Directory of Open Access Journals (Sweden)

    Tomislav Kostić

    2015-06-01

    Full Text Available In 1992, Brugada syndrom was introduced as a new clinical entity linking typical but variable ST segment changes in the right precordial leads to an increased vulnerability for lethal ventricular arrhythmias. The diagnosis of Brugada syndrome is based on clinical and electrocardiographic features. Recent studies illustrate the dynamic character of these ECG patterns. Whenever a large number of baseline ECGs was available during a follow-up, the diagnostic pattern could be documented only in approximately 25% of the tracings. Because the presence of the spontaneous coved type I ECG pattern is thought to be a useful predictor of future arrhythmic events in asymptomatic patients, these findings are of great clinical importance. ICD implantation is an option for the patients with Brugada syndrome and ventricular tachycardia or fibrillation. Extensive research is ongoing to find alternative pharmacological options for these patients, especially for patients in whom ICD implantation is contraindicated for various reasons.

  7. Genetics Home Reference: Hartsfield syndrome

    Science.gov (United States)

    ... Epub 2016 May 12. Citation on PubMed Shi Y, Dhamija R, Wren C, Wang X, Babovic-Vuksanovic D, Spector E. Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. Am J Med Genet A. 2016 Sep ...

  8. Diagnosis of cracked tooth syndrome

    Directory of Open Access Journals (Sweden)

    Sebeena Mathew

    2012-01-01

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

  9. Diagnosis of cracked tooth syndrome.

    Science.gov (United States)

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

    2012-08-01

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

  10. Diagnosis of cracked tooth syndrome

    OpenAIRE

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

    2012-01-01

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

  11. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  12. Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

    Science.gov (United States)

    Bruel, Alexandra; Kavanagh, David; Noris, Marina; Delmas, Yahsou; Wong, Edwin K S; Bresin, Elena; Provôt, François; Brocklebank, Vicky; Mele, Caterina; Remuzzi, Giuseppe; Loirat, Chantal; Frémeaux-Bacchi, Véronique; Fakhouri, Fadi

    2017-08-07

    Pregnancy is associated with various forms of thrombotic microangiopathy, including hemolytic uremic syndrome. A previous small French study suggested that pregnancy-associated hemolytic uremic syndrome was to be included in the spectrum of atypical hemolytic uremic syndrome linked to complement alternative pathway dysregulation. We sought to retrospectively analyze the presentation, outcome, and frequency of complement alternative pathway gene variants in a larger international (France, United Kingdom, Italy) cohort of patients with pregnancy-associated hemolytic uremic syndrome. Eighty-seven patients with pregnancy-associated hemolytic uremic syndrome were included. Hemolytic uremic syndrome occurred mainly during the first pregnancy (58%) and in the postpartum period (76%). At diagnosis, 56 (71%) patients required dialysis. Fifty-six (78%) patients underwent plasma exchanges, 21 (41%) received plasma infusions, and four (5%) received eculizumab. During follow-up (mean duration of 7.2 years), 41 (53%) patients reached ESRD, 15 (19%) had CKD, and 18 (28%) patients experienced hemolytic uremic syndrome relapse. Twenty-four patients (27%) received a kidney transplant and a recurrence of hemolytic uremic syndrome occurred in 13 (54%) patients. Variants in complement genes were detected in 49 (56%) patients, mainly in the CFH (30%) and CFI genes (9%). Pregnancy-associated hemolytic uremic syndrome and atypical hemolytic uremic syndrome nonrelated to pregnancy have the same severity at onset and during follow-up and the same frequency of complement gene variants. Copyright © 2017 by the American Society of Nephrology.

  13. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    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

  14. 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.

  15. 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.

  16. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    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)

  17. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  18. 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.

  19. 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.

  20. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  1. Lemierre's syndrome

    International Nuclear Information System (INIS)

    Gong, J.; Garcia, J.

    1999-01-01

    Postanginal sepsis, or Lemierre's syndrome, is rare but with life-threatening potential involving mainly infants and adolescents. The morbidity or mortality is caused mainly by lack of knowledge of the syndrome. The 18-year-old boy described here developed a jugular thrombosis 7 days after an angina. Fusobacterium necrophorum was isolated from the culture of the excised jugular vein. Secondary embolism involved the lungs, associated with an iliac osteomyelitis and sacroiliitis. Computed tomography was used for diagnosis and follow-up. (orig.)

  2. 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

  3. Detecting the brachyspina mutation

    DEFF Research Database (Denmark)

    2012-01-01

    This invention relates to methods for the detection of a bovine that is affected by or carrier of brachyspina. It is based on the identification of a 3.3 Kb deletion in the bovine FANCI gene that is shown to cause the brachyspina syndrome. The present invention provides methods and uses for deter...

  4. [Evaluation of usefulness of the enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies to lipopolysaccharides of Enterohemorrhagic Escherichia coli (EHEC) strains in patients with gastrointestinal disorders and patients with hemolytic uremic syndrome].

    Science.gov (United States)

    2014-01-01

    Enterohemorrhagic Escherichia coli (EHEC) strains are an important zoonotic food-borne and waterborne pathogens causing diarrhea and the severe hemolytic uremic syndrome (HUS) in humans. The aim of the study was to evaluate the usefulness of enzyme immunoassay ELISA for detection of antibodies to the lipopolysaccharides (LPS) of EHEC in patients with gastrointestinal disorders and patients with hemolytic-uremic syndrome. Sera obtained from 526 patients with gastrointestinal disorders, 26 patients with HUS and 74 patients with different bacterial gastroenteritis infections were screened by an LPS-based ELISA. The LPS antigens of EHEC belonging to serogroups O26, O103, O104, O111, O121, O145, and O157 were obtained by modified Boivin's method. Additionally, to determine the cut-off level, the 122 sera from healthy people were tested. Cellular extract from E. coli O14 were used to remove by absorption antibodies to the Enterobacteriaceae Common Antigen (ECA). Generally, seroprevalence of antibodies to the LPS of different EHEC serogroups in patients with gastrointestinal disorders was low. Additionally, interpretation of the some positive results was difficult to the fact of many serological mutual interactions. Particularly a lot of cross-reactions were seen in the group of sera obtained from patients with different bacterial gastroenteritis infections. The study showed also that in most cases the absorption of antibodies to the ECA had no significant effect on the cross-reactions observed in ELISA. On the other hand, the very high level of antibodies to the LPS antigen of E. coli O26 was found in 5 patients, to E. coli O157 in 4 patients, to E. coli O104 and O145 in 3 patients and E. coli O111 in 2 patients with HUS. Analysis of antibody levels in paired sera taken 2-3 weeks apart obtained from six HUS patients showed a rapid decline of antibody levels to the LPS antigens. The results showed the usefulness of the ELISA with lipopolysaccharides antigens to

  5. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

  6. 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

  7. Dravet Syndrome

    Science.gov (United States)

    ... but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial. View Full Treatment Information Definition Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  8. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  9. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    , liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  10. 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.

  11. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  12. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  13. 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.…

  14. 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.

  15. Metabolic syndrome

    Science.gov (United States)

    ... gov/pubmed/26718656 . Ruderman NB, Shulman GI. Metabolic syndrome. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 43. Review ... NIH MedlinePlus Magazine Read more Health ...

  16. Stickler Syndrome

    Science.gov (United States)

    ... tongue to drop back toward the throat. Blindness. Blindness can occur if retinal detachments aren't repaired promptly. Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial ...

  17. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  18. Kounis syndrome

    African Journals Online (AJOL)

    Kounis syndrome is charac terised by a group of symp toms that manifest as unsta ble vasospastic or nonvaso spastic angina secondary to a hypersensitivity reaction.[1] It was first described by. Kounis and Zavras in 1991[2] as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and ...

  19. [Myelodysplastic syndrome classification].

    Science.gov (United States)

    Ghariani, Ines; Braham, Najia; Hassine, Mohsen; Kortas, Mondher

    2013-01-01

    Myelodysplastic syndromes (MDS) are myeloid disorders with various clinical and biological presentations. The French-American-British (FAB-1982) classification included five categories basing on morphology and bone marrow blast count. Three criteria are taken into account: 1) the percentage of blasts in peripheral blood and bone marrow, 2) the percentage of ringed sideroblasts, and 3) the number of monocytes in peripheral blood. The World Health Organization classification (WHO 2001, 2008) modifies the FAB system by also taking cytogenetic characteristics and molecular biology into consideration. The last classification (WHO-2008) takes into account: 1) the number of peripheral cytopenia, 2) the percentage of blasts in peripheral blood and bone marrow, 3) the percentage of ringed sideroblasts, 4) the possible presence of Auer Rods, and 5) the detection of a cytogenetic abnormality (the isolated 5q deletion). The following subgroups are defined: refractory cytopenia with unilineage dysplasia, refractory anemia with ringed sideroblasts, refractory cytopenia with multilineage dysplasia, refractory anemia with excess blasts, myelodysplastic syndrome unclassifiable and myelodysplastic syndrome with isolated del(5q).

  20. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Teens / Marfan Syndrome What's in this ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the ...

  1. 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…

  2. Fibromyalgia syndrome in chronic urticaria patients

    Directory of Open Access Journals (Sweden)

    Aylin Gözübüyükoğulları

    2014-12-01

    Full Text Available Background and Design: The aim of our study was to determine the frequency of fibromyalgia syndrome in chronic urticaria patients. Materials and Methods: The study was carried out with the participation of 100 chronic urticaria patients and 61 control group patients. Chronic urticaria patients were investigated for the etiology of urticaria and the autologous serum skin test was performed in those patients. Both the chronic urticaria patients and the controls were evaluated for fibromyalgia syndrome, and the patients fulfilling the diagnostic criteria were diagnosed to have fibromyalgia syndrome. Results: The frequency of fibromyalgia syndrome was significantly higher in chronic urticaria patients (23%, than in the control group (1.6%. All the patients, who were diagnosed with fibromyalgia syndrome, were female and the rate of female gender was significantly higher than in the group without fibromyalgia syndrome. Thyroid autoimmunity was positive in 26% of chronic urticaria patients. No significant difference was detected in the frequency of thyroid autoimmunity and autologous serum skin test positivity between the patients with and without fibromyalgia syndrome. Conclusion: The prevalence of fibromyalgia syndrome in chronic urticaria patients is higher than in the general population. Therefore, we suggest evaluation of chronic urticaria patients in terms of fibromyalgia syndrome which is a disease that decreases the quality of life considerably. Furthermore, in order to treat these two diseases effectively, future studies are necessary to determine the common points in the pathogenesis.

  3. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  4. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  5. 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.

  6. Pearson syndrome.

    Science.gov (United States)

    Farruggia, Piero; Di Marco, Floriana; Dufour, Carlo

    2018-03-01

    Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

  7. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  8. Antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2017-03-01

    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  9. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

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

  10. [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.

  11. 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.

  12. Asperger Syndrome

    OpenAIRE

    Friedlander, Robin

    2002-01-01

    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...

  13. What Is Marfan Syndrome?

    Science.gov (United States)

    ... Outreach Initiative Breadcrumb Home Health Topics English Español Marfan Syndrome Basics In-Depth Download Download EPUB Download PDF What is it? Points To Remember About Marfan Syndrome Marfan syndrome affects connective tissue, which is the “ ...

  14. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... celiac disease. 5 Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although ... girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining ...

  15. Basal cell nevus syndrome

    Science.gov (United States)

    ... nevus syndrome Basal cell nevus syndrome - face References Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. ... A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among ...

  16. What Causes Rett Syndrome?

    Science.gov (United States)

    ... it? Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are ... in the MECP2 gene represent the most prevalent causes of Rett syndrome. The development and severity of ...

  17. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  18. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  19. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  20. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

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

    1987-01-01

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

  1. 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. © 2016 Japanese Dermatological Association.

  2. MECONIUM ASPIRATION SYNDROME : A CLINICAL STUDY

    OpenAIRE

    BEHERA, MK; KULKARNI, SD; GUPTA, RK

    1998-01-01

    Forty two babies with Meconium aspiration syndrome managed in neonatal intensive care unit of a service hospital were analysed. Incidence was 1.7 per cent. Twelve babies were delivered by caserean section and 30 babies by vaginal route. Seventeen deliveries were conducted by team of gynaecologists, pediatrician and nursing staff whereas 25 deliveries were conducted by nursing staff alone. Out of total babies with meconium aspiration syndrome, thin meconium detected in 9 and thick meconium det...

  3. Prenatal Diagnosis Of Catch22 Syndrome

    Directory of Open Access Journals (Sweden)

    Rana Karayalçın

    2010-08-01

    Full Text Available Deletions involving the long arm of chromosome 22 (22q11 are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS, Velocardiofacial Syndrome (VCFS, Shprintzen Syndrome, Conotruncal Anomaly Face Syndrome (CTAF, Caylor Cardiofacial Syndrome or Autosomal Dominant Opitz G/BBB Syndrome. CATCH22 is the summarizing name of all the syndromes caused by 22q11 deletion. We present a prenatally diagnosed case at 19 th week of gestation with tetralogy of Fallot. Amniocyte tissue cultures resulted in normal karyotype at 550 band level. 22q11.2 deletion was detected by using DiGeorge/VCFS TUPLE1 (Cytocell FISH probe. 22q11 testing is necessary in case of detection of conotruncal heart anomalies in pregnancies. Chromosome analysis is not enough in many cases and FISH testing combined with chromosome analysis is an effective way of diagnosing affected cases.

  4. Cortical heterotopia in Aicardi's syndrome - CT findings

    International Nuclear Information System (INIS)

    Besenski, N.; Bosnjak, V.; Ligutic, I.; Marusic-Della Marina, B.

    1988-01-01

    The case of 5-month-old female infant with Aicardi's syndrome is presented. The main clinical features were severe developmental retardation and intractable epileptic seizures. Ophthalmoscopic examination revealed pathognomonic choriorethinopathy. Ultrasonic examination of the brain detected agenesis of the corpus callosum, whereas CT showed a coexisting malformation of the brain, i.e. cortical heterotopia of the gray matter. Agenesis of the corpus callosum is an entity well-recognized by sonography. However, ultrasonography is an insufficient modality for the visualization of cortical heterotopia which is common to all cases of Aicardi's syndrome. Therefore, in cases of suspected Aicardi's syndrome CT is recommended, as it enables the diagnosis of cortical heterotopia. (orig.)

  5. 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

  6. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties......, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria...

  7. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  8. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  9. 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

  10. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  11. 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.

  12. Seasonality and temporal clustering of Kawasaki syndrome.

    Science.gov (United States)

    Burns, Jane C; Cayan, Daniel R; Tong, Garrick; Bainto, Emelia V; Turner, Christena L; Shike, Hiroko; Kawasaki, Tomisaku; Nakamura, Yosikazu; Yashiro, Mayumi; Yanagawa, Hiroshi

    2005-03-01

    The distribution of a syndrome in space and time may suggest clues to its etiology. The cause of Kawasaki syndrome, a systemic vasculitis of infants and children, is unknown, but an infectious etiology is suspected. Seasonality and clustering of Kawasaki syndrome cases were studied in Japanese children with Kawasaki syndrome reported in nationwide surveys in Japan. Excluding the years that contained the 3 major nationwide epidemics, 84,829 cases during a 14-year period (1987-2000) were analyzed. To assess seasonality, we calculated mean monthly incidence during the study period for eastern and western Japan and for each of the 47 prefectures. To assess clustering, we compared the number of cases per day (daily incidence) with a simulated distribution (Monte Carlo analysis). Marked spatial and temporal patterns were noted in both the seasonality and deviations from the average number of Kawasaki syndrome cases in Japan. Seasonality was bimodal with peaks in January and June/July and a nadir in October. This pattern was consistent throughout Japan and during the entire 14-year period. Some years produced very high or low numbers of cases, but the overall variability was consistent throughout the entire country. Temporal clustering of Kawasaki syndrome cases was detected with nationwide outbreaks. Kawasaki syndrome has a pronounced seasonality in Japan that is consistent throughout the length of the Japanese archipelago. Temporal clustering of cases combined with marked seasonality suggests an environmental trigger for this clinical syndrome.

  13. Does Horner's syndrome in infancy require investigation?

    Science.gov (United States)

    George, N; Gonzalez, G; Hoyt, C

    1998-01-01

    AIMS—To evaluate whether isolated Horner's syndrome presenting in the first year of life warrants investigation.
METHOD—Retrospective review of 23 children presenting with Horner's syndrome in the first year of life.
RESULTS—In 16 patients (70%) no cause was identified. Birth trauma was the most common identifiable cause (four patients). Twenty one children (91%) had urinary vanillylmandelic acid (VMA) measured and 13 patients (57%) underwent either computed tomography or magnetic resonance imaging of the chest and neck. These investigations revealed previously undisclosed pathology in only two—one ganglioneuroma of the left pulmonary apex and one cervical neuroblastoma. A further patient was known to have abdominal neuroblastoma before presenting with Horner's syndrome. There were no cases of Horner's syndrome occurring after cardiothoracic surgery. Long term follow up of the patients (mean 9.3 years) has not revealed further pathology.
CONCLUSIONS—Routine diagnostic imaging of isolated Horner's syndrome in infancy is unnecessary. Infants should be examined for cervical or abdominal masses and involvement of other cranial nerves. If the Horner's syndrome is truly isolated then urinary VMA levels and follow up in conjunction with a paediatrician should detect any cases associated with neuroblastoma. Further investigation is warranted if the Horner's syndrome is acquired or associated with other signs such as increasing heterochromia, a cervical mass, or cranial nerve palsies.

 Keywords: Horner's syndrome; neuroblastoma PMID:9536881

  14. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  15. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  16. 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.

  17. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  18. Syndromic surveillance for local outbreaks of lower-respiratory infections: Would it work?

    NARCIS (Netherlands)

    C.C. van den Wijngaard (Cees); L. van Asten (Liselotte); W. van Pelt (Wilfrid); G. Doornbos (Gerda); N.J.D. Nagelkerke (Nico); G.A. Donker (Gé); W. van der Hoek (Wim); M.P.G. Koopmans D.V.M. (Marion)

    2010-01-01

    textabstractBackground: Although syndromic surveillance is increasingly used to detect unusual illness, there is a debate whether it is useful for detecting local outbreaks. We evaluated whether syndromic surveillance detects local outbreaks of lower-respiratory infections (LRIs) without swamping

  19. Syndromic surveillance for local outbreaks of lower-respiratory infections: would it work?

    NARCIS (Netherlands)

    Wijngaard, C.C. van den; Asten, L. van; Pelt, W. van; Doornbos, G.; Nagelkerke, N.J.D.; Donker, G.A.; Hoek, W. van der; Koopmans, M.P.G.

    2010-01-01

    Background: Although syndromic surveillance is increasingly used to detect unusual illness, there is a debate whether it is useful for detecting local outbreaks. We evaluated whether syndromic surveillance detects local outbreaks of lower-respiratory infections (LRIs) without swamping true signals

  20. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Marfan Syndrome KidsHealth / For Parents / Marfan Syndrome Print en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the ...