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Sample records for syndrome study resa

  1. Spotlight on RESA 2: Regional Implementation of the Learning School Initiative. Catalyst Schools Research Study Report

    Science.gov (United States)

    Hammer, Patricia Cahape

    2016-01-01

    West Virginia's Regional Education Service Agency 2 (RESA 2) serves six districts in the southwestern part of the state--Cabell, Lincoln, Logan, Mason, Mingo, Wayne--which together have 95 schools. RESA 2 was one of two RESAs to pilot implementation of the Learning School approach, beginning in the summer of 2014. RESA 2's first cohort included…

  2. Spotlight on RESA 6: Regional Implementation of the Learning School Initiative. Catalyst Schools Research Study Report

    Science.gov (United States)

    Hammer, Patricia Cahape

    2016-01-01

    West Virginia's Regional Education Service Agency 6 (RESA 6) serves five districts in the northern panhandle of the state--Brooke, Hancock, Marshall, Ohio, and Wetzel--which together are home to 51 schools. RESA 6 joined the pilot implementation of the Learning School approach in the summer of 2015, as part of the second cohort. RESA 6's group…

  3. Possible association of the Plasmodium falciparum T1526C resa2 gene mutation with severe malaria

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    Durand Rémy

    2012-04-01

    Full Text Available Abstract Background Plasmodium falciparum exports proteins that remodel the erythrocyte membrane. One such protein, called Pf155/RESA (RESA1 contributes to parasite fitness, optimizing parasite survival during febrile episodes. Resa1 gene is a member of a small family comprising three highly related genes. Preliminary evidence led to a search for clues indicating the involvement of RESA2 protein in the pathophysiology of malaria. In the present study, cDNA sequence of resa2 gene was obtained from two different strains. The proportion of P. falciparum isolates having a non-stop T1526C mutation in resa2 gene was evaluated and the association of this genotype with severity of malaria was investigated. Methods Resa2 cDNAs of two different strains (a patient isolate and K1 culture adapted strain was obtained by RT-PCR and DNA sequencing was performed to confirm its gene structure. The proportion of isolates having a T1526C mutation was evaluated using a PCR-RFLP methodology on groups of severe malaria and uncomplicated patients recruited in 1991–1994 in Senegal and in 2009 in Benin. Results A unique ORF with an internal translation stop was found in the patient isolate (Genbank access number : JN183870, while the K1 strain harboured the T1526C mutation (Genbank access number : JN183869 which affects the internal stop codon and restores a full length coding sequence. About 14% of isolates obtained from Senegal and Benin harboured mutant T1526C parasites. Some isolates had both wild and mutant resa alleles. The analysis excluding those mixed isolates showed that the resa2 T1526C mutation was found more frequently in severe malaria cases than in uncomplicated cases (p = 0.008. The association of the presence of the mutant allele and parasitaemia >4% was shown in multivariate analysis (p = 0.03 in the group of Beninese children. Conclusions All T1526C mutant parasites theoretically have the ability to give rise to a full-length RESA2 protein

  4. A portion of the Pf155/RESA antigen of Plasmodium falciparum is accessible on the surface of infected erythrocytes

    International Nuclear Information System (INIS)

    Saul, A.; Maloy, W.L.; Howard, R.J.; Rock, E.P.

    1988-01-01

    An investigation of antigens accessible to lactoperoxidase-catalysed cell surface iodination on intact Plasmodium falciparum-infected red blood cells (RBC) has identified a 125 I-labelled antigen with an apparent size of about 155 kD. This labelled protein was specifically immunoprecipitated by the following antibodies: a rabbit antiserum and a mouse monoclonal antibody raised against a synthetic peptide comprising the 3',8-mer repeat EENVEHDA of the Pf155/RESA protein; a rabbit antiserum raised against a synthetic octapeptide comprising two copies of the 3',4-mer repeat EENV of the Pf155/RESA protein; and rabbit antisera against another synthetic peptide C(MYSNNNVED) 2 . The last antibody shows a strong reaction in asexual blood state parasites with the Pf155/RESA antigen. While this antigen has been described previously as a submembrane component of the outer membrane of infected RBC, this report shows that at least part of it is accessible to the surface of both ring and late trophozoite-infected erythrocytes. 21 refs., 4 figs

  5. Development of the food supplement Nyaditum resae as a new tool to reduce the risk of tuberculosis development.

    Science.gov (United States)

    Tukvadze, Nestani; Cardona, Paula; Vashakidze, Sergo; Shubladze, Natalia; Avaliani, Zaza; Vilaplana, Cris; Cardona, Pere-Joan

    2016-12-01

    Nyaditum resae (NR) is a galenic preparation of heat-killed Mycobacterium manresensis (hkMn). This is a new species that belongs to the Mycobacterium fortuitum complex, and it is present in drinking water-thus, regulatorily speaking, it is considered a food supplement. Preclinical studies in the murine model of active tuberculosis (TB) in the C3HeB/FeJ strain have demonstrated that daily administration of NR containing 10 3 -10 6 hkMn for 14days was able to stop the progression toward active TB [1]. The mechanism of action was linked to the induction of low dose tolerance and was related to the increase of Tuberculin Purified Protein Derivative (PPD) memory-specific Tregs (CD4 + CD25 + CD39 + cells) after ex vivo incubation of splenocytes for 7days. This increase of Tregs was related to the increase of interleukin (IL)-10 in the spleen and in the reduction of IL-17 in the lungs, where there was also a reduction in bacillary load and the pathology caused by a reduction of neutrophiles' infiltration [2]. Two randomized, double-blind placebo-controlled clinical trials (CTs) have been conducted in humans. The NYADATREG study (Clinicaltrials.gov identifier NCT02076139; 2013-2014) was aimed to evaluate the safety and the immunogenicity of two concentrations of NR (containing 10 4 hkMn and 10 5 hkMn) versus placebo (all administered orally everyday for 14days) in tuberculin-positive and tuberculin-negative volunteers (total n=51). The results demonstrated an excellent safety record, with no differences between groups in terms of adverse effects. A significant increase in PPD-specific memory regulatory T cells was also detected in both NR groups [3]. The NYADAPETRICS study (Clinicaltrials.gov identifier NCT02581579) is evaluating the safety and immunogenicity of NR 10 5 hkMn (capsule format, orally) in the pediatric population. Currently, an efficacy study (randomized, double-blinded, placebo-controlled CT) is being conducted in Georgia. This NYADAGEORG trial includes

  6. Development of the food supplement Nyaditum resae as a new tool to reduce the risk of tuberculosis development

    Directory of Open Access Journals (Sweden)

    Nestani Tukvadze

    2016-01-01

    Full Text Available Nyaditum resae (NR is a galenic preparation of heat-killed Mycobacterium manresensis (hkMn. This is a new species that belongs to the Mycobacterium fortuitum complex, and it is present in drinking water—thus, regulatorily speaking, it is considered a food supplement. Preclinical studies in the murine model of active tuberculosis (TB in the C3HeB/FeJ strain have demonstrated that daily administration of NR containing 103–106 hkMn for 14 days was able to stop the progression toward active TB [1]. The mechanism of action was linked to the induction of low dose tolerance and was related to the increase of Tuberculin Purified Protein Derivative (PPD memory-specific Tregs (CD4+CD25+CD39+ cells after ex vivo incubation of splenocytes for 7 days. This increase of Tregs was related to the increase of interleukin (IL-10 in the spleen and in the reduction of IL-17 in the lungs, where there was also a reduction in bacillary load and the pathology caused by a reduction of neutrophiles' infiltration [2]. Two randomized, double-blind placebo-controlled clinical trials (CTs have been conducted in humans. The NYADATREG study (Clinicaltrials.gov identifier NCT02076139; 2013–2014 was aimed to evaluate the safety and the immunogenicity of two concentrations of NR (containing 104 hkMn and 105 hkMn versus placebo (all administered orally everyday for 14 days in tuberculin-positive and tuberculin-negative volunteers (total n = 51. The results demonstrated an excellent safety record, with no differences between groups in terms of adverse effects. A significant increase in PPD-specific memory regulatory T cells was also detected in both NR groups [3]. The NYADAPETRICS study (Clinicaltrials.gov identifier NCT02581579 is evaluating the safety and immunogenicity of NR 105 hkMn (capsule format, orally in the pediatric population. Currently, an efficacy study (randomized, double-blinded, placebo-controlled CT is being conducted in Georgia. This NYADAGEORG trial

  7. Antiphospholipid syndrome: A case study

    International Nuclear Information System (INIS)

    Davies, T.

    1998-01-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient''s high risk of strokes and hemorrhaging prompted investigation by a 99 mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome

  8. Antiphospholipid syndrome: A case study

    Energy Technology Data Exchange (ETDEWEB)

    Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

  9. Radioisotope studies in algodystrophic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    De Rossi, G.; Focacci, C.; Salvatori, M.; Regi, M.; Bertolini, C.; Piazzini, D.; Sterzi, S.; Greco, F.

    1983-10-01

    A total of 22 patients with algodystrophic syndrome was studied, treated with calcitonin (n = 11) or magnetotherapy (n = 11). Scintigraphy was performed before and 3 months after the onset of therapy. The ratio between the counts on the pathologic segment (P) vs. a contralateral normal area (N) was calculated. Pre-/posttherapy P/N difference was found to correlate well with clinical improvement. On the basis of such a follow-up method calcitonin treatment seemed to achieve better results than magnetotherapy, at least in the first clinical stadium of the disease.

  10. Radioisotope studies in algodystrophic syndrome

    International Nuclear Information System (INIS)

    De Rossi, G.; Focacci, C.; Salvatori, M.; Regi, M.; Bertolini, C.; Piazzini, D.; Sterzi, S.; Greco, F.

    1983-01-01

    A total of 22 patients with algodystrophic syndrome was studied, treated with calcitonin (n = 11) or magnetotherapy (n = 11). Scintigraphy was performed before and 3 months after the onset of therapy. The ratio between the counts on the pathologic segment (P) vs. a contralateral normal area (N) was calculated. Pre-/posttherapy P/N difference was found to correlate well with clinical improvement. On the basis of such a follow-up method calcitonin treatment seemed to achieve better results than magnetotherapy, at least in the first clinical stadium of the disease. (orig.) [de

  11. A multicenter study on Leigh syndrome

    DEFF Research Database (Denmark)

    Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo

    2014-01-01

    BACKGROUND: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural...... history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. METHODS: This is a retrospective study of patients with Leigh syndrome...... to thrive, brainstem lesions on neuroimaging and intensive care treatment were significantly associated with poorer survival. CONCLUSIONS: This is a multicenter study performed in a large cohort of patients with Leigh syndrome. Our data help define the natural history of Leigh syndrome and identify novel...

  12. Neurocutaneous syndrome: A prospective study

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    Radheshyam Purkait

    2011-01-01

    Full Text Available Background: Neurocutaneous syndromes (NCS are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. Aim: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. Materials and Methods: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. Results: The study population comprised of 67 children (35 boys, 32 girls.The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months. The various forms of NCS observed was neurofibromatosis 1(NF1 (n=33, tuberous sclerosis complex (TSC (n=23, Sturge Weber syndrome (n=6, ataxia telangiectasia (n=2, PHACE syndrome (n=1, incontinentia pigmenti (n=1, and hypomelanosis of Ito (n=1. The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs with time (P=0.0002 in NF1, unlike that of hypopigmented macules of TSC (P=0.15. Statistically, no relation was documented between the evolution of skin

  13. Prader-Willi Syndrome: Two Case Studies.

    Science.gov (United States)

    Bahling, Elizabeth F.

    1979-01-01

    Prader-Willi Syndrome, also called "the eating disease", is a low-incidence handicap which cannot be diagnosed in infancy. Most adults reported in the literature are institutionalized and profoundly retarded. A study of the diagnosis and intervention of two Prader-Willi Syndrome children is presented. (Author/JKS)

  14. Biochemical and genetic studies on cardiometabolic syndrome

    OpenAIRE

    Supriya Simon, A.; Dinesh Roy, D.; Jayapal, V.; Vijayakumar, T.

    2010-01-01

    Cardiometabolic syndrome is one of the major public health issues of this century which describes a cluster of clinical characteristics. Seventy two patients with coronary artery disease (CAD) and cardiometabolic syndrome and forty healthy age and sex matched normal controls were selected for this study. Detailed clinical epidemiological and anthropometric characteristics were noted. Lipid profile and Cytokinesis-block micronuclei (CBMN) assay using cytochalasin B were carried out in all the ...

  15. Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

    Science.gov (United States)

    Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

    2013-01-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

  16. A CLINICAL STUDY OF HELLP SYNDROME

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    Irrinki Vasundhara Jyothi

    2017-01-01

    Full Text Available BACKGROUND HELLP syndrome is an acronym for Haemolysis (H, Elevated Liver Enzymes (EL and Low Platelet (LP. This is a rare complication of preeclampsia (10-15%. HELLP syndrome may develop even without hypertension. This syndrome is manifested by nausea, vomiting, epigastric or right upper quadrant pain along with haematological changes. Parenchymal necrosis of liver causes elevation in hepatic enzymes (AST and ALT >70 IU/L, LDH >600 IU/L and bilirubin (>1.2 mg/dL. There may be subcapsular haematoma formation (which is diagnosed by CT scanning and abnormal peripheral blood smear. Eventually, liver may rupture to cause sudden hypotension due to haemoperitoneum. Periportal haemorrhagic necrosis of the liver occurs due to thrombosis of the arterioles. The necrosis is seen at the periphery of the lobule. There may be subcapsular haemorrhage. Hepatic insufficiency seldom occurs because of the capacity and regenerative ability of liver cells. Liver function tests are especially abnormal in women with HELLP syndrome. A sincere effort has been put to study the HELLP syndrome incidence and its clinical prognosis and to understand its outcome. MATERIALS AND METHODS Forty patients were selected whose BP was recorded more than 140/80 mmHg after twenty weeks of gestation. Peripheral smear were taken to check for haemolysis or elevated indirect bilirubin or elevated LDH levels were checked, elevated liver enzymes and decreased platelet count <1,00,000/cumm was noted. Incidence of HELLP syndrome was found and various clinical features presented and the complications faced by the patients were recorded. Prompt treatment was given and the outcome of the disease was noted. All the statistical analysis was done using the latest SPSS software 2015 (California. RESULTS The mean age of the study group was found to be 26.72 years with a standard deviation of 5.62 years. In our study, the mean haemoglobin level was found to be 6.41 gm%, which is very low compared to the

  17. STUDIES ON THE SYNDROME OF FAT EMBOLIZATION.

    Science.gov (United States)

    SPROULE, B J; BRADY, J L; GILBERT, J A

    1964-05-30

    Three patients, all of whom were well-muscled young adult males who had suffered fractures of long bones, were studied by means of measurement of ventilatory function and arterial blood gases. They had degrees of mental change varying from mild confusion to stupor. Anemia, hypocalcemia, skin petechiae and radiologic pulmonary infiltrates were demonstrated in all three.In the absence of any clinical cyanosis, profound arterial O(2) desaturation was demonstrated in all. Physiologic studies indicated that the desaturation was the result of a diffusion defect early in the course of the syndrome and later from venous admixture. The lungs were stiff and the work of breathing was increased. The anemia appeared to be hemolytic in type.It is suggested that anemia, hypocalcemia and arterial O(2) desaturation may contribute significantly to the cerebral symptomatology associated with the syndrome of fat embolization.

  18. Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

    Science.gov (United States)

    Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

    2018-04-01

    Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

  19. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    Science.gov (United States)

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  20. Pigment dispersion syndrome: a clinical study.

    Science.gov (United States)

    Scheie, H G; Cameron, J D

    1981-01-01

    This study involved a group of 407 patients (799 eyes) with pigment dispersion syndrome gathered from a glaucoma population of 9200 patients. The sex distribution was equal. The majority (65%) of patients were myopic. The incidence of retinal detachment was 6.4%. No patients were black, but 5 were mulatto. Approximately one-quarter of the patients wih pigment dispersion syndrome (31% of the men, 19% of the women) had glaucoma. The average age of onset of glaucoma was 15 years less than in control patients with chronic simple glaucoma. When both eyes were affected by glaucoma, the glaucoma was consistently more severe in the eye with the more heavily pigmented angle. The degree of iris transillumination was found to be of no importance in predicting the presence of glaucoma or the severity of trabecular pigmentation. The pressure in 66% of the eyes with pigmentary glaucoma was controlled medically. A higher percentage of patients with pigmentary glaucoma required surgery than patients in the control group with chronic simple glaucoma. Men with pigmentary glaucoma required surgery at a much earlier age than women with pigmentary glaucoma. PMID:7236571

  1. Radiologic study of basal cell nevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Park, Tae Won [Dept. of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1988-11-15

    Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressively. In the cases, multiple jaw cysts, pal mar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthoru m have been observed.

  2. Radiologic study of basal cell nevus syndrome

    International Nuclear Information System (INIS)

    Park, Tae Won

    1988-01-01

    Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressively. In the cases, multiple jaw cysts, pal mar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthoru m have been observed.

  3. Nailfold video capillaroscopy in Turner syndrome: a descriptive study

    OpenAIRE

    Coelho,Simone C. S.; Ramos,Andressa D.; Pinheiro,Virgínia S.; Solberg,Paulo F. C.; Faria,Janaina P. de; Naliato,Erika C. O.; Fernandes,Therezinha J.; Guimarães,Marília M.

    2007-01-01

    BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 ...

  4. Reflex sympathetic dystrophy syndrome: MR imaging study

    International Nuclear Information System (INIS)

    Masciocchi, C.; Fascetti, E.; Bonanni, G.; Calvisi, V.; Buoni, C.; Passariello, R.

    1987-01-01

    Reflex sympathetic dystrophy syndrome (RSDS) is characterized by pain, swelling, and limitation of motion. The etiology and pathophysiology mechanism have not yet been identified. We considered eight patients with clinical signs of RSDS, in five cases located at the knee joint and in three cases in the hip. In all cases conventional radiography and radionuclide bone scanning were performed before MR imaging. Conventional radiography was negative in three cases while scintigraphy demonstrated the lesion in all patients. MR imaging showed an area of low intensity signal on T1-weighted scans and an increased signal intensity on T2-weighted images. This area is located at the bone marrow and its regular and homogeneous. This specific finding on MR images is due to reflect edema by hyperemia of the bone marrow. The MR imaging diagnosis was confirmed on clinical and radiological follow-up. MR imaging can have a role in the differential diagnosis when other studies are nondiagnostic or nonspecific for RSDS

  5. Imaging study of the painful heel syndrome

    International Nuclear Information System (INIS)

    Williams, P.L.; Smibert, J.G.; Cox, R.; Mitchell, R.; Klenerman, L.

    1987-01-01

    A total of 45 patients with the painful heel syndrome without evidence of an associated inflammatory arthritis, seven of whom had pain in both heels, were studied using technetium-99 isotope bone scans and lateral and 45 degrees medial oblique radiographs of both feet. Of the 52 painful heels 31 (59.6%) showed increased uptake of tracer at the calcaneum. Patients with scans showing increased uptake tended to have more severe heel pain and responded more frequently to a local hydrocortisone injection. On plain x-ray, 39 of 52 painful heels (75%) and 24 of the 38 opposite nonpainful heels (63%) showed plantar spurs, compared with five of 63 (7.9%) heels in 59 age- and sex-matched controls. No evidence of stress fractures was seen

  6. Intellectual development in Noonan syndrome: A longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermühle, P.A.M.; Kessels, R.P.C.; Egger, J.I.M.

    2016-01-01

    INTRODUCTION: Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory,

  7. Sibling relationships in individuals with Angelman syndrome: A comparative study

    NARCIS (Netherlands)

    Love, V.; Richters, L.P.H.; Didden, H.C.M.; Korzilius, H.P.L.M.; Machalicek, W.A.

    2012-01-01

    Objective: Investigating the impact of Angelman syndrome on the sibling relationship. Methods: This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n 44). Sibling relationships were

  8. The spectrum of Mobius syndrome: an electrophysiological study.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Padberg, G.W.A.M.; Zwarts, M.J.

    2005-01-01

    We studied the nature and extent of facial muscle innervation and the involvement of the motor and sensory long tracts in Mobius syndrome, in order to shed light on the pathophysiological mechanism of the syndrome. Standardized blink reflexes, direct responses of the facial nerves to the orbicularis

  9. Asian motility studies in irritable bowel syndrome.

    Science.gov (United States)

    Lee, Oh Young

    2010-04-01

    Altered motility remains one of the important pathophysiologic factors in patients with irritable bowel syndrome (IBS) who commonly complain of abdominal pain and stool changes such as diarrhea and constipation. The prevalence of IBS has increased among Asian populations these days. Gastrointestinal (GI) physiology may vary between Asian and Western populations because of differences in diets, socio-cultural backgrounds, and genetic factors. The characteristics and differences of GI dysmotility in Asian IBS patients were reviewed. MEDLINE search work was performed including following terms, 'IBS,' 'motility,' 'transit time,' 'esophageal motility,' 'gastric motility,' 'small intestinal motility,' 'colonic motility,' 'anorectal function,' and 'gallbladder motility' and over 100 articles were categorized under 'esophagus,' 'stomach,' 'small intestine,' 'colon,' 'anorectum,' 'gallbladder,' 'transit,' 'motor pattern,' and 'effect of stressors.' Delayed gastric emptying, slow tansit in constipation predominant IBS patients, rapid transit in diarrhea predominant IBS patients, accelerated motility responses to various stressors such as meals, mental stress, or corticotrophin releasing hormones, and altered rectal compliance and altered rectal accomodation were reported in many Asian studies regarding IBS. Many conflicting results were found among these studies and there are still controversies to conclude these as unique features of Asian IBS patients. Multinational and multicenter studies are needed to be performed vigorously in order to elaborate characteristics as well as differences of altered motililty in Asian patients with IBS.

  10. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  11. Dysphagia in Rett Syndrome: A Descriptive Study.

    Science.gov (United States)

    Mezzedimi, Chiara; Livi, Walter; De Felice, Claudio; Cocca, Serena

    2017-09-01

    Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

  12. [Turner syndrome: Study of 42 cases].

    Science.gov (United States)

    Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara

    2016-10-21

    Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  13. Studies on Phantom Vibration and Ringing Syndrome among Postgraduate Students

    Directory of Open Access Journals (Sweden)

    Atul Kumar Goyal

    2015-03-01

    Full Text Available Phantom vibrations and ringing of mobile phones are prevalent hallucinations in the general population. They might be considered as a normal brain mechanism. The aim of this study was to establish the prevalence of Phantom vibrations and ringing syndrome among students and to assess factors associated it. The survey of 300 postgraduate students belonging to different field of specialization was conducted at Kurukshetra University. 74% of students were found to have both Phantom vibrations and ringing syndrome. Whereas 17% of students felt Phantom vibration exclusively and 4% students face only Phantom ringing syndrome. Both the syndrome occurs more fervent in students who kept their mobile phone in shirt or jean pocket than to who kept mobile in handbag. 75% of students felt vibration or ringing even when the phone is switched off or phone was not in their pocket. Also the frequency of both the syndrome is directly proportional to the duration of mobile phone use and person emotional behavior. Although most of students agree that the Phantom syndrome did not bother them but some students deals with anxiety when they feel symptoms associated with Phantom syndrome. By using mobile phones in proper way, one can avoid these syndromes, or at least can ameliorate the symptoms.

  14. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  15. Ultrasonographic contrast-enhanced study of sicca syndrome

    International Nuclear Information System (INIS)

    Giuseppetti, Gian Marco; Argalia, Giulio; Salera, Diego; Ranaldi, Roberto; Danieli, Giovanna; Cappelli, Marida

    2005-01-01

    Objective: To assess the ability of US contrast-enhanced time-intensity curves to depict the changes connected with sicca syndrome, a fairly common condition that is often associated with autoimmune disorders such as Sjogren's syndrome or other diseases. Diagnostic criteria are complex and controversial and although no single test can be considered the gold standard, salivary gland scintigraphy and biopsy are reliable diagnostic methods. Materials and methods: Sixty consecutive patients with sicca syndrome, 40 of whom had primary (n = 23) or secondary (n = 17) Sjogren's syndrome and 20 had non-Sjogren's sicca syndrome, selected according to European Community Study Group diagnostic criteria for Sjogren's syndrome and subjected to contrast-enhanced US imaging of the parotids using a second-generation contrast agent with analysis of time-intensity curves at rest and during salivary stimulation, Tc99m salivary gland scintigraphy and labial gland biopsy. Results: In the 40 Sjogren's patients, US enhancement values were significantly lower (P < 0.0001 and P < 0.00003, respectively) than in the 20 non-Sjogren's patients both at rest and during stimulation. In the 23 subjects with the primary syndrome, values during stimulation were significantly lower than in the 17 subjects with the secondary syndrome (P < 0.0006), whereas at rest differences were not significant. Contrast-enhanced US imaging allowed to discriminate Sjogren's from non-Sjogren's sicca patients with 87.5% sensitivity, 85% specificity and 86.7% accuracy and the primary from the secondary syndrome with 78.2% sensitivity, 70.5% specificity and 75% accuracy. Interestingly, in eight patients with the primary syndrome, i.e. those with the more severe gland involvement, enhancement values were lower during stimulation than at rest. Conclusion: Preliminary results indicate that contrast-enhanced US imaging can provide useful information on sicca characterisation and severity

  16. Ultrasonographic contrast-enhanced study of sicca syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Giuseppetti, Gian Marco [Institute of Radiology, University School of Medicine, Umberto I Hospital, Via Conca 1, Ancona (Italy)]. E-mail: gm.giuseppetti@ao-umbertoprimo.marche.it; Argalia, Giulio [Institute of Radiology, University School of Medicine, Umberto I Hospital, Via Conca 1, Ancona (Italy); Salera, Diego [Institute of Radiology, University School of Medicine, Umberto I Hospital, Via Conca 1, Ancona (Italy); Ranaldi, Roberto [Institute of Pathological Anatomy and Histopathology, University School of Medicine, Umberto I Hospital, Ancona (Italy); Danieli, Giovanna [Institute of Internal Medicine, University School of Medicine, Umberto I Hospital, Ancona (Italy); Cappelli, Marida [Institute of Internal Medicine, University School of Medicine, Umberto I Hospital, Ancona (Italy)

    2005-05-01

    Objective: To assess the ability of US contrast-enhanced time-intensity curves to depict the changes connected with sicca syndrome, a fairly common condition that is often associated with autoimmune disorders such as Sjogren's syndrome or other diseases. Diagnostic criteria are complex and controversial and although no single test can be considered the gold standard, salivary gland scintigraphy and biopsy are reliable diagnostic methods. Materials and methods: Sixty consecutive patients with sicca syndrome, 40 of whom had primary (n = 23) or secondary (n = 17) Sjogren's syndrome and 20 had non-Sjogren's sicca syndrome, selected according to European Community Study Group diagnostic criteria for Sjogren's syndrome and subjected to contrast-enhanced US imaging of the parotids using a second-generation contrast agent with analysis of time-intensity curves at rest and during salivary stimulation, Tc99m salivary gland scintigraphy and labial gland biopsy. Results: In the 40 Sjogren's patients, US enhancement values were significantly lower (P < 0.0001 and P < 0.00003, respectively) than in the 20 non-Sjogren's patients both at rest and during stimulation. In the 23 subjects with the primary syndrome, values during stimulation were significantly lower than in the 17 subjects with the secondary syndrome (P < 0.0006), whereas at rest differences were not significant. Contrast-enhanced US imaging allowed to discriminate Sjogren's from non-Sjogren's sicca patients with 87.5% sensitivity, 85% specificity and 86.7% accuracy and the primary from the secondary syndrome with 78.2% sensitivity, 70.5% specificity and 75% accuracy. Interestingly, in eight patients with the primary syndrome, i.e. those with the more severe gland involvement, enhancement values were lower during stimulation than at rest. Conclusion: Preliminary results indicate that contrast-enhanced US imaging can provide useful information on sicca characterisation and

  17. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    Science.gov (United States)

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  18. Imaging studies for failed back surgery syndrome

    International Nuclear Information System (INIS)

    Cosnard, G.; Cordoliani, Y.S.; Sarrazin, J.L.; Soulie, D.

    1995-01-01

    In patients with failed back surgery syndrome, magnetic resonance imaging (MRI) can be the best first-line imaging study because it simplifies the diagnosis. This update is based on over 600 cases. MRI shows the scar tissue at the surgical site, persistent evidence of disk herniation for several weeks after surgery, and evidence of local and regional edema in one-fourth of cases. The edema is most marked between two months and two years after the operation and can misleadingly suggest discitis. MRI is the best investigation for detecting recurrent herniation at the same vertebral level or another level. Herniated disk material is seen as a mass that does not enhance after gadolinium, in contrast to the vascularized scar tissue. Free fragments are often clearly visible within the scar tissue. Fragments that migrate to the epidural space can give rise to granulomatous reactions. Scar tissue can be seen in the epidural space and within the disk; it can show enhancement after gadolinium for several years. The scar can be atrophic or hypertrophic and can encase or impinge on the dural sac and nerve roots. Pathological fibrosis cannot be differentiated from ordinary scar tissue. Arachnoiditis causing adherence of the nerve roots to the dura mater or to each other occurs in 5 % to 10 % of cases. Nerve root enhancement after gadolinium is seen in three-fourths of cases. Bone lesions are common, especially some time after surgery; they are usually accompanied with other lesions. Hematomas are seen in less than 10 % of cases. Infections are similarly rare (0.25 % each for discitis and epiduritis). The diagnosis of discitis is difficult and requires percutaneous biopsy of the disk, especially when MRI shows fluid within the disk, with decreased signal intensity on T2 images, and non enhancement after intravenous gadolinium. (authors). 19 refs., 7 figs

  19. Electrodiagnostic studies in Guillain-Barre syndrome

    NARCIS (Netherlands)

    J. Meulstee (Jan)

    1994-01-01

    textabstractThe Guillain-Barre syndrome (GBS) is a monophasic (sub)acute inflammatory demyelinating predominantly motor polyradiculo-neuropathy. Clinical criteria have been proposed by Asbury (Asbury et aI., 1978; Asbury and Cornblath, 1990). GBS is a selflimiting disease, however, up to 30% of the

  20. Asian Motility Studies in Irritable Bowel Syndrome

    OpenAIRE

    Lee, Oh Young

    2010-01-01

    Altered motility remains one of the important pathophysiologic factors in patients with irritable bowel syndrome (IBS) who commonly complain of abdominal pain and stool changes such as diarrhea and constipation. The prevalence of IBS has increased among Asian populations these days. Gastrointestinal (GI) physiology may vary between Asian and Western populations because of differences in diets, socio-cultural backgrounds, and genetic factors. The characteristics and differences of GI dysmotili...

  1. Intellectual development in Noonan syndrome: a longitudinal study.

    Science.gov (United States)

    Roelofs, Renée L; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P C; Egger, Jos I M

    2016-07-01

    Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, attention, and executive functioning. This longitudinal study is the first to investigate intellectual development in a group of individuals with Noonan syndrome. Sixteen patients with Noonan syndrome underwent intelligence assessment both in childhood and in adulthood, using Wechsler's intelligence scales. IQ scores and Wechsler standard scores achieved in childhood and adulthood were compared. Subsequently, verbal and performance IQ in childhood were used as predictors for adult IQ and index scores. Compared with childhood scores, adult full-scale IQ and performance IQ significantly increased. Adult performance IQ was higher than verbal IQ. Childhood performance IQ and verbal IQ together predicted all adult IQ and index scores, except for the processing speed index. Childhood IQ was a significant predictor of adult intelligence in patients with Noonan syndrome. Performance IQ advanced to a normal level in adulthood, while verbal IQ did not develop proportionately, resulting in a discrepancy between adult performance IQ and verbal IQ. This finding could suggest a delay in the development of executive functioning in patients with Noonan syndrome, which seems to be outgrown in adulthood.

  2. Mowat–Wilson syndrome – case study

    Directory of Open Access Journals (Sweden)

    Kamil Faltin

    2016-06-01

    Full Text Available Mowat–Wilson syndrome is a rare genetic condition characterised by a number of congenital anomalies, including facial dysmorphia, heart and kidney anomalies, Hirschsprung’s disease, intellectual disability and abnormalities of reproductive organs. In the paper, we present a case of a girl who was admitted to the Department of Paediatrics, Immunology and Nephrology at the age of 3 months, with a suspicion of tubulointerstitial nephritis. The patient had facial dysmorphia, congenital malformations of the nervous system and Hirschsprung’s disease. During hospitalisation, congenital urinary anomalies (bilateral vesicoureteral reflux and heart defects were diagnosed. On the basis of the clinical picture, the diagnostics was expanded to genetic tests for Mowat–Wilson syndrome, which revealed an 857_858delAG pathogenic mutation in one of the ZEB2 gene alleles (exon 7 – one of the rarer causes of Mowat–Wilson syndrome. At present, the girl is 13 months old. Her development is delayed. Currently, the girl is under multidisciplinary care and she is undergoing intensive rehabilitation. The knowledge of the syndrome’s clinical features allows a faster diagnosis to be made and multispecialty care to be provided to the child.

  3. Os trigonum syndrome: A retrospective and comparative study

    Directory of Open Access Journals (Sweden)

    Nihat Taşdemir

    2012-03-01

    Full Text Available Objectives: The aim of this study was to evaluate the os trigonum syndrome by magnetic resonance imaging (MRI.Materials and methods: A total of 76 ankle MRI images were evaluated, retrospectively. All MRI examinations were done in supine position with the injured foot in neutral position and then in forced plantar flexion.Results: Os trigonum syndrome was seen in 16/76 cases. Four of 16 os trigonum syndrome patients are female. The average age of this 16 patients who were defined as os trigonum syndrome by MRI was 34.81±14.16 years. Twelve of 16 os trigonum syndrome was seen in right ankle. Disruption of the cartilaginous synchondrosis between the accessory bone and the talus was observed in 12 patients. Tenosynovitis of the flexor halluces longus was associated in 7 patients. Subcutan edema, surrounding the os trigonum was detected in 11 patients.Conclusion: In patients with ostrigonum syndrome MR imaging allows complete diagnosis.

  4. [On establishing comparative reference system for syndrome classification study from the thinking characteristics of syndrome differentiation dependent therapy].

    Science.gov (United States)

    Liu, Ping; Hu, Yi-yang; Ni, Li-qiang

    2006-05-01

    To create a comparative referential system for syndrome classification study by viewing from the thinking characteristics of TCM on syndrome differentiation dependent therapy (SDDT), through analyzing the thinking process of SDDT, and the basic features of disease, syndrome and prescription, combining the basic principles of modern evidence-based medicine and feasibility of establishing integrative disease-syndrome animal model. The practice of creating a comparative referential system based on clinical efficacy of prescription was discussed around syndrome pathogenesis and its relationship with disease and prescription, which was one of the important scientific problems in TCM syndrome study. The authors hold that, it may be one of the available approaches for the present study on integration of disease with syndrome by way of insisting on the thinking pathway of stressing the characteristics of TCM and intermerging with modern scientific design; on taking the efficacy of prescription as the comparative reference system to accumulate and improve unceasingly according to the TCM method of syndrome diagnosis inferred from effect of prescription with reverse thought (i.e., to differentiate syndrome from the effect of prescription), and thus build up the syndrome diagnostic standard on the solid clinical and scientific base.

  5. A review of Down's syndrome studies and ionizing radiation

    International Nuclear Information System (INIS)

    Rose, K.S.B.

    1994-01-01

    This review collates results from 3 high dose (> 0.1 Gy) and 23 low dose epidemiological studies of parental radiation exposure and Down's syndrome incidence. A pattern of consistent results appears in 13 studies of irradiation received by women for diagnostic purposes. The pattern is an increase in Down's syndrome, the increase being approximately equivalent to an ovarian doubling dose of 20 mGy. The value is definitely not compatible with results from the high dose studies. Results from the other 10 low dose studies were used to test this value but most proved to be unsuitable for a variety of reasons. However, no associations between levels of high natural background and Down's syndrome have been observed in either New England or Aberdeen, which are areas in developed countries where reliable statistics ar collected. (author)

  6. Sexuality in women with polycystic ovary syndrome: a pilot study

    Directory of Open Access Journals (Sweden)

    Jucilene Sales da Paixão Silva

    2010-12-01

    Full Text Available Objective: The objective of this study was to evaluate the sexual behavior of women with polycystic ovary syndrome and the relationship between sexual behavior and the clinical parameters related to this syndrome (obesity, hirsutism and menstrual irregularities. Methods: A cross-sectional study was carried out involving 48 women with polycystic ovary syndrome. The evaluation was based on the complaints reported by the women with particular emphasis on sexual satisfaction, the presence of a sexual partner, phases of the sexual response cycle (desire, arousal, orgasm and resolution phases, sexual frequency, practice of masturbation, evaluation of less usual sexual habits, degree of intimacy and the quality of communication in the women’s involvement with their sexual partner. The variables of sexual behavior (sexual satisfaction, masturbation, sexual fantasies, frequency of desire, arousal and orgasm were compared with three clinical parameters: menstrual cycle, hirsutism and body mass index (BMI. Results: The sexual initiation, ways of expressing sexuality, communication and intimacy with partner and sexual satisfaction were not influenced by the clinical aspects of the syndrome. With respect to association of polycystic ovary syndrome clinical parameters with sexual behavior, a statistically significant correlation was found with the menstrual cycle. Conclusion: The absence of menstruation affected sexual interest in activities not involving the partner, thus increasing the frequency of masturbation.

  7. Justice at work and metabolic syndrome: the Whitehall II study.

    Science.gov (United States)

    Gimeno, David; Tabák, Adám G; Ferrie, Jane E; Shipley, Martin J; De Vogli, Roberto; Elovainio, Marko; Vahtera, Jussi; Marmot, Michael G; Kivimäki, Mika

    2010-04-01

    Growing evidence shows that high levels of justice are beneficial for employee health, although biological mechanisms underlying this association are yet to be clarified. We aim to test whether high justice at work protects against metabolic syndrome. A prospective cohort study of 20 civil service departments in London (the Whitehall II study) including 6123 male and female British civil servants aged 35-55 years without prevalent coronary heart disease at baseline (1985-1990). Perceived justice at work was determined by means of questionnaire on two occasions between 1985 and 1990. Follow-up for metabolic syndrome and its components occurring from 1990 to 2004 was based on clinical assessments on three occasions over more than 18 years. Cox proportional hazard models adjusted for age, ethnicity and employment grade showed that men who experienced a high level of justice at work had a lower risk of incident metabolic syndrome than employees with a low level of justice (HR 0.75; 95% CI 0.63 to 0.89). There was little evidence of an association between organisational justice and metabolic syndrome or its components in women (HR 0.88; 95% CI 0.67 to 1.17). Our prospective findings provide evidence of an association between high levels of justice at work and the development of metabolic syndrome in men.

  8. Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

    Science.gov (United States)

    Leivonen, Susanna; Chudal, Roshan; Joelsson, Petteri; Ekblad, Mikael; Suominen, Auli; Brown, Alan S; Gissler, Mika; Voutilainen, Arja; Sourander, Andre

    2016-02-01

    This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

  9. CT study in primary low spinal fluid pressure syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hoshino, Moritoshi; Okayama, Kenji; Kubo, Hiromasa; Watanabe, Hiromi; Endou, Riuko (Ohmiya Red Cross Hospital, Yono, Saitama (Japan))

    1991-02-01

    CT findings in primary low spinal fluid pressure syndrome were studied on the basis of 3 cases. Case 1 was a 43-year-old male with a complicated bilateral isodense subdural hematoma (SDH). Case 2 was a 45-year-old female with a complicated bilateral high dense SDH. Case 3 was a 36-year-old female discharged without any complications after spinal fluid pressure normalized. Slight downward displacement of the brain under low spinal fluid pressure was shown as the narrowing of a Sylvian fissures and infratentorial cisterns on CT. On the other hand, in this syndrome with a complicated bilateral isodense SDH, in addition to this finding, CT revealed distortion and narrowing of body lateral ventricles, which might be differential findings from this syndrome without complicated SDH. Under low spinal fluid pressure, bridging veins are more stretched by a downward displacement of the brain. And consequently they were easily injured and SDH was developed. (author).

  10. Sibling relationships in individuals with Angelman syndrome: a comparative study.

    Science.gov (United States)

    Love, Victoria; Richters, Lotte; Didden, Robert; Korzilius, Hubert; Machalicek, Wendy

    2012-01-01

    Investigating the impact of Angelman syndrome on the sibling relationship. This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n = 44). Sibling relationships were compared on four factors and 16 sub-scales of the Sibling Relationship Questionnaire-Revised. Results showed significant differences in mean scores on each of the four factors (i.e. Warmth/Closeness, Conflict, Rivalry and Dominance/Nurturance) and most of the sub-scales. ANCOVAs showed that demographic variables (number of siblings, living in a two-parent vs single parent household, gender, participant's age, place of residence) did not influence significant differences in sibling relationships between the two groups. Having a brother or sister with Angelman syndrome may influence the way in which the sibling perceives the sibling relationship. This may have important implications for family-centred intervention for this population.

  11. Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

    Science.gov (United States)

    Felczak, Paulina; Lewandowska, Eliza; Stępniak, Iwona; Ołdak, Monika; Pollak, Agnieszka; Lechowicz, Urszula; Pasennik, Elżbieta; Stępień, Tomasz; Wierzba-Bobrowicz, Teresa

    Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleomorphism of mitochondria in skeletal muscle and smooth muscle cells of arterioles, as well as in pericytes of capillaries. Paracrystalline inclusions were found only in damaged mitochondria of skeletal muscle. Genetic testing revealed a point mutation in A3243G tRNALeu(UUR) typical for MELAS syndrome. We conclude that differentiated pathological changes of mitochondria in the studied types of cells may be associated with the different energy requirements of these cells.

  12. Clinical, radiological and imunogenectical study in patients with Reiter's Syndrome

    International Nuclear Information System (INIS)

    Souza Meirelles, E. de.

    1987-01-01

    This study puspose was to investigate the clinical, radiological and immunogenetical parameters from a brazilian Reiter's Syndrome population. Twenty Reiter's Syndrome patients from ''Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo'' were prospectivelly studied in their demographical (sex, race, age at study, age at disease onset and disease duration), epidemiological (family history), clinical (general, articular, mucocutaneous, genitourinary, ocular and intestinal manifestations besides functional capacity at study), radiological (sacro-iliitis, spondylitis and calcaneal spur) and immunogenetical (HLA loci A, B and DR typing). The technique employed in the 61 aloantigens from loci HLA A (17), B (34) and DR (10) typing was Terasaki microlymphocitotoxicity modified by Danilovs, had being performed in the ''Laboratorio de Imunogenetica da Faculdade de Medicina da Universidade de Sao Paulo''. We concluded that the clinical, radiological and immunogenetical Reiter's Syndrome expression in the brazilian population is similar to the others north american or european already studied populations and that the probability of one brazilian HLA B27 positie individual to develop Reiter's Syndrome is 19 fold larger when compared to one brazilian HLA B27 negative individual. (author) [pt

  13. Munchausen Syndrome by Proxy: A Study of Psychopathology.

    Science.gov (United States)

    Bools, Christopher; And Others

    1994-01-01

    This study evaluated 100 mothers with Munchausen Syndrome by Proxy (the fabrication of illness by a mother in her child). Approximately half of the mothers had either smothered or poisoned their child as part of their fabrications. Lifetime psychiatric histories were reported for 47 of the mothers. The most notable psychopathology was personality…

  14. Savant Syndrome: Case Studies, Hypotheses, and Implications for Special Education.

    Science.gov (United States)

    Cheatham, Susan Klug; And Others

    1995-01-01

    The concept of savant syndrome, encompassing those individuals historically known as "idiot savants," is reviewed. Case studies demonstrating special abilities in the areas of calendar calculating, musical ability, artistic talent, memorization, mathematical skills, mechanical achievement, and fine sensory discrimination are discussed,…

  15. Electrophysiological studies in the post-viral fatigue syndrome.

    OpenAIRE

    Jamal, G A; Hansen, S

    1985-01-01

    Single fibre electromyography (SFEMG) was studied in 40 patients with the post-viral fatigue syndrome. These patients were also assessed clinically, serologically, virologically and immunologically. About 75% of the patients had definitely abnormal SFEMG results. This was regarded as evidence of abnormality in the peripheral part of the motor unit. The muscle fibre was the likely site of involvement.

  16. 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.

  17. Waardenburg Syndrome: A Case Study of Two Patients.

    Science.gov (United States)

    Sharma, Karan; Arora, Archana

    2015-09-01

    Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.

  18. Frequency of psychological alterations in primary antiphospholipid syndrome: preliminary study.

    Science.gov (United States)

    Sadetski, M; Tourinho Moretto, M L; Correia de Araujo, R P; de Carvalho, J F

    2018-04-01

    Objectives To detect the frequency of psychological alterations in primary antiphospholipid syndrome patients. Methods Thirty-six primary antiphospholipid syndrome patients were analyzed by a psychological interview using a standard protocol and review of medical charts. Clinical manifestations, associated comorbidities, antiphospholipid antibodies, and treatment were also evaluated. Results The mean age was 44.2 ± 10.8 years, 29 (80%) were women and 29 (80%) were of Caucasian race. The mean duration of disease was 7.3 ± 5.2 years. The frequency of the presence of psychological alterations was 97.1%. Family dependence was observed in 14 (40%), memory loss in 12 (34.3%), social losses in 12 (34.3%), sexual limitations in seven (20%), sadness in six (17.1%), severe speech limitation in four (11.4%), anxiety in three (8.6%), learning difficulty in two (5.7%), generalized phobia in two (5.7%), suicide ideation in one (2.6%), agoraphobia in one (2.6%), and obsessive-compulsive disorder in one (2.6%). Conclusion This study demonstrated that almost all primary antiphospholipid syndrome patients have psychological alterations. These data reinforce the need for psychological evaluation in primary antiphospholipid syndrome patients.

  19. A CLINICORADIOLOGICAL STUDY OF MIDDLE LOBE SYNDROME DUE TO TUBERCULOSIS

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    Saurabh Karmakar

    2016-09-01

    Full Text Available BACKGROUND Although pulmonary tuberculosis is a common disease in India, tuberculosis of right middle lobe is infrequent. Tuberculosis of the right middle lobe leading to chronic collapse is a cause of Right Middle Lobe syndrome. METHODS The patients attended Pulmonary Medicine Outdoor at Era’s Lucknow Medical College, Lucknow from April 2015 to March 2016. The purpose of this study is to describe the clinicoradiological features of patients of middle lobe syndrome due to tuberculosis. All patients presented with cough with or without expectoration, fever, chest pain, haemoptysis and constitutional symptoms like loss of appetite and weight. Chest X-ray PA view revealed ill-defined opacity abutting the right cardiac border. HRCT thorax was done in each case. The diagnosis of tuberculous aetiology was based on (1 History of chronic cough and fever, not responding to antibiotic therapy and constitutional symptoms, (2 A positive tuberculin test using 2 TU of PPD RT 23 and (3 Detection of acid fast bacilli by direct smear or Mycobacterium tuberculosis by polymerase chain reaction in bronchoalveolar lavage. RESULTS Out of 10 patients, 4 (40% were males and 6 (60% were females. The mean ages of the males were 55.8 years and females were 60.8 years and overall mean age was 59 years. Most of the patients were females and belonged to the middle age and old age group. ATT was started in all the patients. CONCLUSIONS Right middle lobe syndrome predominantly affects the older population and the female gender. Although tuberculosis is a common disease in India, Middle Lobe Syndrome is a very rare presentation of the disease. Due to non-specific symptoms and usually normal chest X-ray PA view in Right Middle Lobe Syndrome, we should keep a high index of suspicion to diagnose the condition.

  20. Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study

    OpenAIRE

    Stochholm, Kirstine; Bojesen, Anders; Jensen, Anne Skakkebæk; Juul, Svend; Gravholt, Claus Højbjerg

    2012-01-01

    Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Design Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson and ‘others’). Setting Denmar...

  1. CLINICO PATHOLOGICAL STUDY OF NEPHROTIC SYNDROME IN ADULTS

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    Deepa

    2015-11-01

    Full Text Available CONTEXT: Etiology of nephrotic syndrome (NS in adults varies depending on the geographical location and is poorly studied in the Indian subcontinent. AIMS: To study the clinical features, biochemical profile and histopathological pattern of various types of glomerulonephritis in adult patients with nephrotic syndrome. METHODS AND MATERIAL: Patients (≥15 years old with nephrotic syndrome presenting to our center and undergoing a kidney biopsy from May 2009 to August 2011 were included for this study. All biopsies were subjected to light microscopy.The histopathological spectrum was analyzed according to the various clinical parameters. STATISTICAL ANALYSIS USED: Analysis was performed using SPSS software version 19.Measures obtained included percentages,medians,correlation coefficients and chi square tests. RESULTS: A total of 50 kidney biopsies were included in analysis. Twenty six(52% patients were male and twenty four(48% patients were female. The average age at presentation was 15-24 years. Among the patients, 22(44% were diagnosed with primary glomerular diseases (PGD and 4(8% with secondary glomerular diseases (SGD. The most common histological lesions was membranous nephropathy(24.4% followed by minimal change disease (MCD (17% and membranous nephropathy (MN (17%. The most common form of SGD was lupus nephritis (LN (10%. Membranous nephropathy and focal segmental glomerulosclerosis were the commonest lesions in males.Among females,membranous nephropathy was the commonest. 31(62% patients were in the age group of 15-34 yrs, 17(34% were in the age group 34- 54yrs and only 2(4% were aged above 55yrs. Among the patients, 6(12% had serum creatinine ≥1.5 mg/dL and 12(24% had either macroscopic or microscopic hematuria. CONCLUSIONS: Membranous nephropathy is still the commonest type of nephrotic syndrome in adults followed closely by focal segmental glomerulosclerosis and minimal change disease as per this study.

  2. Experimental study of possible therapy of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Willborn, M.

    1981-01-01

    These experimental studies showed that the survival time of rats, irradiated in a whole-body irradiation with 3000 rad 60 Co-gamma, can be positively influenced by the administration of an antibiotic and also by glucocorticoids. Contrary to our expectations, the combined application of the glucocorticoid and the antibiotic did not increase the survival time of the animals with gastrointestinal syndromes compared with the exclusive administration of the antibiotic. The mineral corticoid aldosterone resulted to be ineffective. (orig.) [de

  3. Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

    Science.gov (United States)

    Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

    2015-01-01

    In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

  4. Lessons learned from studying syndromic autism spectrum disorders.

    Science.gov (United States)

    Sztainberg, Yehezkel; Zoghbi, Huda Y

    2016-10-26

    Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention. The demonstration of reversibility of several phenotypes in adult mice is encouraging, and brings hope that with novel therapies, skills and functionality might improve in affected children and young adults. As new research reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there will be opportunities for shared therapeutics for this class of conditions.

  5. Sjoegren's syndrome. A functional scintigraphic study of salivary glands

    International Nuclear Information System (INIS)

    Arrago, J.P.; Rain, J.D.; Rocher, F.; Vigneron, N.; Pecking, A.; Najean, Y.

    1984-01-01

    One-hundred and twenty patients with sicca syndrome, connective tissue disease or chronic graft-versus-host disease were investigated in the Saint-Louis Hospital Department of Nuclear Medicine. Technetium scanning of the salivary glands was performed in all patients. The results of the scintigraphic study were closely correlated with clinical and histological data in patients with Sjoegren's syndrome. This method, which accurately quantifies the salivary function without danger nor discomfort to the patients, has a number of advantages: (a) it is sensitive enough to detect minimal salivary gland dysfunction; (b) it differentiates between parotid gland and submandibular gland involvement demonstrates assymetry in pathological processes; (c) it helps in following up patients with Sjoegren's disease and in assessing the results of immunosuppressive or anti-inflammatory treatment [fr

  6. A Study of Hypoalbuminemia and Pleural Effusionin Pediatric Nephrotic Syndrome

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    Tovan Perinandika

    2017-06-01

    Full Text Available Background: Nephrotic syndrome (NS is a kidney disease that is most often found in children. Hypoalbuminemia in NS can cause a decrease in oncotic pressure causing extravasation of fluid into the interstitial space. In conditions of severe hypoalbuminemia, fluid extravasation may cause occurrence of pleural effusion. The objectives of this study was to analyze the correlation between hypoalbuminemia and pleural effusion in children with NS. Methods: An analytical study was conducted on 69 medical records of pediatric nephrotic syndrome from 1 January 2008–31 December 2013 in dr. Hasan Sadikin General Hospital. Inclusion criteria were pediatric patients between 1-14 years old with NS. Exclusion criteria were patients who already had albumin transfusion, malnutrition, patients with chronic disease, and incomplete medical record information. Contingency coefficient test was carried out to discover the correlation between variables. Results: Out of 89 samples, 69 samples were included. Characteristics of the included patients are male (n=48, female (n=21, age 1–5 (n=24, 6–10 (n=22, 11–14 (n=23, mild hypoalbuminemia (n=3, moderate hypoalbuminemia (n=27, severe hypoalbuminemia (n=39, patients with pleural effusion (n=23, and non-pleural effusion (n=46. There was a significant correlation between  hypoalbuminemia and pleural effusion with p=0.000 (p<0.05 and moderate correlation (r=0.437. Conclusions: Hypoalbuminemia has correlation with pleural effusion in pediatric nephrotic syndrome. Keywords: Hypoalbuminemia, pediatric nephrotic syndrome, pleural effusion DOI: 10.15850/amj.v4n2.1075

  7. Chest wall syndrome among primary care patients: a cohort study

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    Verdon François

    2007-09-01

    Full Text Available Abstract Background The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS. Methods Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Results Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6% patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. Conclusion CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration.

  8. Chest wall syndrome among primary care patients: a cohort study.

    Science.gov (United States)

    Verdon, François; Burnand, Bernard; Herzig, Lilli; Junod, Michel; Pécoud, Alain; Favrat, Bernard

    2007-09-12

    The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS). Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6%) patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration.

  9. Chest wall syndrome among primary care patients: a cohort study

    Science.gov (United States)

    Verdon, François; Burnand, Bernard; Herzig, Lilli; Junod, Michel; Pécoud, Alain; Favrat, Bernard

    2007-01-01

    Background The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS). Methods Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Results Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6%) patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. Conclusion CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration. PMID:17850647

  10. Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

    Science.gov (United States)

    Sung, Hyunsook; And Others

    1997-01-01

    A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

  11. Genome-wide association studies of obesity and metabolic syndrome.

    Science.gov (United States)

    Fall, Tove; Ingelsson, Erik

    2014-01-25

    Until just a few years ago, the genetic determinants of obesity and metabolic syndrome were largely unknown, with the exception of a few forms of monogenic extreme obesity. Since genome-wide association studies (GWAS) became available, large advances have been made. The first single nucleotide polymorphism robustly associated with increased body mass index (BMI) was in 2007 mapped to a gene with for the time unknown function. This gene, now known as fat mass and obesity associated (FTO) has been repeatedly replicated in several ethnicities and is affecting obesity by regulating appetite. Since the first report from a GWAS of obesity, an increasing number of markers have been shown to be associated with BMI, other measures of obesity or fat distribution and metabolic syndrome. This systematic review of obesity GWAS will summarize genome-wide significant findings for obesity and metabolic syndrome and briefly give a few suggestions of what is to be expected in the next few years. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  12. Syndromic analysis in child neuropsychology: A case study

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    Solovieva Yu.

    2017-12-01

    Full Text Available Background. Neuropsychology is a science with its own specific concepts, terms, and methods of analysis of disturbances in psychological development. One of the essential concepts of neuropsychological methodology, according to A.R. Luria, is that of a neuropsychological syndrome, which takes into account both the functional organization of the brain and the behavioral system. However, this concept isn’t mentioned in the majority of his publications, and thus is not well known by neuropsychologists. There is no clear understanding of this concept within the works of modern neuropsychologists. This omission has a strong influence on the way analysis and interpretation of developmental difficulties is carried out today. Objective. The objective of this study is to present an example of the successful application of qualitative syndromic analysis to the case of a Mexican preschool child with developmental problems and learning disabilities. Design. The clinical analysis was applied to the case of a 6 year old girl with learning disabilities, whose difficulties had been attributed primarily to a low level of general brain activation. Results. The authors assert that the advantages of A.R. Luria’s syndromic approach to clinical cases of difficulties in development and learning disabilities, are that it opens up the potential for finding the general causes on different levels: neuronal maturation, brain mechanisms, activity and personality. Conclusion. The authors conclude that the topic of syndromic analysis in child neuropsychology requires further scientific discussion. The necessity for revising levels of analysis of clinical cases should be taken in account.

  13. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

    Science.gov (United States)

    Bondy, Carolyn A

    2007-01-01

    The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function

  14. Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study.

    Science.gov (United States)

    Kar, Sujita Kumar; Singh, Amit

    2017-01-01

    Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-centered management gets weakened, affecting the clinical outcome. This case study focuses on the diagnostic dilemmas related to Dhat syndrome in females and pitfalls in the current diagnostic system.

  15. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  16. Confusion in the Study of Immune Reconstitution Inflammatory Syndrome

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    Claudia Alvarado-de la Barrera

    2017-05-01

    Full Text Available As a consequence of late presentation for HIV care, a significant proportion of individuals develop immune reconstitution inflammatory syndrome (IRIS soon after initiation of antiretroviral therapy. Incidence, predictors, and models of pathogenesis of IRIS vary in the literature. Here we discuss factors that may contribute to this lack of consensus. We propose that different pathogens drive different types of IRIS and suggest that these clinical conditions should be studied individually and not grouped under the general heading of “IRIS.”

  17. Rett syndrome diagnostic criteria: lessons from the Natural History Study.

    Science.gov (United States)

    Percy, Alan K; Neul, Jeffrey L; Glaze, Daniel G; Motil, Kathleen J; Skinner, Steven A; Khwaja, Omar; Lee, Hye-Seung; Lane, Jane B; Barrish, Judy O; Annese, Fran; McNair, Lauren; Graham, Joy; Barnes, Katherine

    2010-12-01

    Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria.

  18. Studies of microparticles in patients with the antiphospholipid syndrome (APS).

    Science.gov (United States)

    Vikerfors, A; Mobarrez, F; Bremme, K; Holmström, M; Ågren, A; Eelde, A; Bruzelius, M; Antovic, A; Wallén, H; Svenungsson, E

    2012-06-01

    To study circulating platelet, monocyte and endothelial microparticles (PMPs, MMPs and EMPs) in patients with antiphospholipid syndrome (APS) in comparison with healthy controls. Fifty-two patients with APS and 52 healthy controls were investigated. MPs were measured on a flow cytometer (Beckman Gallios) and defined as particles sized APS patients versus controls (p APS patients. We observed a high number of EMPs expressing TF in APS patients. The numbers of MMPs and total EMPs were also higher as compared with healthy controls but in contrast to previous reports, the number of PMPs did not differ between groups.

  19. Prospective study of aetiological factors in burning mouth syndrome

    Science.gov (United States)

    Lamey, P-J; Lamb, A B

    1988-01-01

    A prospective study of 150 consecutive patients with burning mouth syndrome and with a minimum follow up period of 18 months is reported. Factors related to dentures, to vitamin B complex deficiency, and to psychological abnormalities were found to be important, and undiagnosed diabetes mellitus, reduced salivary gland function, haematological deficiencies, candidal infection, parafunctional habits, and allergy might also play a part. Given a protocol for management which takes all these factors into account, some two thirds of patients can be cured or have their symptoms improved. PMID:3133028

  20. Metabolic Syndrome among Women: A Study from Bursa Turkey

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    Hasan Orhan

    2011-08-01

    Full Text Available AIM: Obesity is one of the risk factors of metabolic syndrome (MetS and its prevalence is rapidly increasing in Turkey. The purpose of this study was to assess the prevalence of MetS and obesity among women aged 20 years and older. METHOD: This is a cross- sectional study, undergone in a primary health care setting in Bursa /Turkey in the year 2008. A total of 807 women were included in the study. Body weight, height, waist circumference, blood pressure, total and HDL cholesterol, fasting plasma glucose and triglyceride levels were measured. Metabolic Syndrome definition was made according to the International Diabetes Federation (IDF criteria. RESULTS: The mean age was 42.713.2 years, 96.4% were married, 50.7% had education of less than 8 years, 93.7% were housewives and 85.3% had a monthly family income of $650 or less. The prevalence of MetS and abdominal obesity were 17.5 % and 87.7% respectively. Those with diabetes mellitus and elevated plasma lipids had increased risk of developing MetS 11.3 and 4.5 times more than those without these situations respectively. The risk of MetS increases with age and increasing BMI. CONCLUSION: Obesity is an alarming risk factor for the development of MetS in our study group. [TAF Prev Med Bull 2011; 10(4.000: 421-432

  1. SNP association study in PMS2-associated Lynch syndrome.

    Science.gov (United States)

    Ten Broeke, Sanne W; Elsayed, Fadwa A; Pagan, Lisa; Olderode-Berends, Maran J W; Garcia, Encarna Gomez; Gille, Hans J P; van Hest, Liselot P; Letteboer, Tom G W; van der Kolk, Lizet E; Mensenkamp, Arjen R; van Os, Theo A; Spruijt, Liesbeth; Redeker, Bert J W; Suerink, Manon; Vos, Yvonne J; Wagner, Anja; Wijnen, Juul T; Steyerberg, E W; Tops, Carli M J; van Wezel, Tom; Nielsen, Maartje

    2017-11-17

    Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3. Hazard ratios (HRs) were calculated using a weighted Cox regression analysis to correct for ascertainment bias. Discrimination was assessed with a concordance statistic in a bootstrap cross-validation procedure. Individual SNPs only had non-significant associations with CRC occurrence with HRs lower than 2, although male carriers of allele A at rs1321311 (6p21.31) may have increased risk of CRC (HR = 2.1, 95% CI 1.2-3.0). A polygenic risk score (PRS) based on 24 HRs had an HR of 2.6 (95% CI 1.5-4.6) for the highest compared to the lowest quartile, but had no discriminative ability (c statistic 0.52). Previously suggested SNPs do not modify CRC risk in PMS2 carriers. Future large studies are needed for improved risk stratification among Lynch syndrome patients.

  2. Clinical Study on Five Cases of Carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Kim Il Hwan

    2001-12-01

    Full Text Available Objections : The purpose of the study was to evaluate the effectiveness of treating the carpal tunnel syndrome by using both the Herbal Acupuncture and herbal medicine therapy on five cases. Methods : For the Herbal Acupuncture, Jungseonguhhyl No. 1 and Hwanglyunhaedoktang were used. For the herbal medicine, Dangguihwalhyul-tang was used. The patients were treated once in every two days; the result was evaluated after ten treatments. Patients' conditions were monitored through their testimony, phalen's test, nerve conduction study and electromyography. Results : In all five cases, the patients showed improvement; in four cases, the patients no longer had most of the clinical symptoms. Based on the result of the nerve conduction study, for the four cases in which the patients no longer displayed most of the clinical symptoms, their nerve conduction rate improved; for the remaining one case, the patient's nerve conduction rate deteriorated. Conclusions : The results of this study demonstrate that combining the Herbal Acupuncture and herbal medicine therapy can have noticeable effects in treating the carpal tunnel syndrome; developing more variety of the herbal acupuncture would lead to even better treatment results.

  3. Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome : Results From the LifeLines Cohort Study

    NARCIS (Netherlands)

    Janssens, Karin A. M.; Zijlema, Wilma L.; Joustra, Monica L.; Rosmalen, Judith G. M.

    Objective: Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). Methods: This

  4. The Metabolic Syndrome and Risk of Sudden Cardiac Death: The Atherosclerosis Risk in Communities Study.

    Science.gov (United States)

    Hess, Paul L; Al-Khalidi, Hussein R; Friedman, Daniel J; Mulder, Hillary; Kucharska-Newton, Anna; Rosamond, Wayne R; Lopes, Renato D; Gersh, Bernard J; Mark, Daniel B; Curtis, Lesley H; Post, Wendy S; Prineas, Ronald J; Sotoodehnia, Nona; Al-Khatib, Sana M

    2017-08-23

    Prior studies have demonstrated a link between the metabolic syndrome and increased risk of cardiovascular mortality. Whether the metabolic syndrome is associated with sudden cardiac death is uncertain. We characterized the relationship between sudden cardiac death and metabolic syndrome status among participants of the ARIC (Atherosclerosis Risk in Communities) Study (1987-2012) free of prevalent coronary heart disease or heart failure. Among 13 168 participants, 357 (2.7%) sudden cardiac deaths occurred during a median follow-up of 23.6 years. Participants with the metabolic syndrome (n=4444) had a higher cumulative incidence of sudden cardiac death than those without it (n=8724) (4.1% versus 2.3%, P metabolic syndrome, the metabolic syndrome was independently associated with sudden cardiac death (hazard ratio, 1.70, 95% confidence interval, 1.37-2.12, P metabolic syndrome criteria components. The risk of sudden cardiac death varied according to the number of metabolic syndrome components (hazard ratio 1.31 per additional component of the metabolic syndrome, 95% confidence interval, 1.19-1.44, P metabolic syndrome was associated with a significantly increased risk of sudden cardiac death irrespective of sex or race. The risk of sudden cardiac death was proportional to the number of metabolic syndrome components. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  5. Impact of caloric intake in critically ill patients with, and without, refeeding syndrome: A retrospective study.

    Science.gov (United States)

    Olthof, Laura E; Koekkoek, W A C Kristine; van Setten, Coralien; Kars, Johannes C N; van Blokland, Dick; van Zanten, Arthur R H

    2017-08-10

    Refeeding syndrome comprises metabolic disturbances that occur after the reintroduction of feeding after prolonged fasting. Standard care consists of correcting fluid and electrolytes imbalances. Energy intake during refeeding syndrome is heavily debated. This study addresses the effect of caloric intake on outcome during the management of refeeding syndrome. A retrospective study among critically ill invasive mechanically ventilated patients admitted for >7 days to a medical-surgical ICU. Refeeding syndrome was diagnosed by the occurrence of new onset hypophosphatemia (refeeding syndrome were compared and subgroup analysis on energy intake within the refeeding population was performed for the duration of survival. Of 337 enrolled patients, 124 (36.8%) developed refeeding syndrome and 213 patients (63.2%) maintained normal serum phosphate levels. Between the two groups, no statistical significant differences in clinical outcomes were observed. Within the refeeding syndrome group, a reduced 6-month mortality risk for low caloric intake (Refeeding syndrome is common among prolonged mechanically ventilated critically ill patients, however not predictable by baseline characteristics. Among patients that develop refeeding syndrome low caloric intake was associated with a reduction in 6-month mortality risk. This effect was not seen in patients without refeeding syndrome. Findings support caloric restriction in refeeding syndrome during critical illness. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  6. Asperger syndrome related suicidal behavior: two case studies

    Directory of Open Access Journals (Sweden)

    Kocourkova J

    2013-11-01

    Full Text Available Jana Kocourkova, Iva Dudova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. Keywords: Asperger syndrome, suicidal behavior, adolescence

  7. Study of Testicular Structure in Fetuses with Prune Belly Syndrome.

    Science.gov (United States)

    Favorito, Luciano A; Costa, Suelen F; Costa, Waldemar S; Vieiralves, Rodrigo; Bernardo, Fabio O; Sampaio, Francisco J B

    2017-01-01

    To compare the structure of the testis in fetuses with prune belly syndrome (PBS) to normal controls. We studied 6 testes obtained from 3 fetuses with PBS and 14 testes from 7 male fetuses. The testicular specimens were cut into 5- μ m thick sections and stained with hematoxylin and eosin (HE), to observe the seminiferous tubules; Weigert's solution to observe elastic fibers; and picrosirius red to observe collagen. The images were captured with an Olympus BX51 microscope and Olympus DP70 camera. The stereological analysis was done with the Image Pro and Image J programs. Means were statistically compared using the Mann-Whitney U test ( p < 0.005). Quantitative analysis documented no differences ( p = 0.4) in number of seminiferous tubules (ST) in PBS testes (mean = 8.87%, SD = 1.59), when compared to the control (mean = 11.4%, SD = 2.99) and no differences ( p = 0.8) in diameter of ST in PBS testes (mean = 52.85  μ m, SD = 1.58) when compared to the control group (mean = 53.17  μ m, SD = 1.55), but we did observe a lower number ( p = 0.0002) of Leydig cells in the PBS testes (mean = 67.03% and SD = 3.697) when compared to the control group (mean = 90.1% and SD = 2.986). Our study showed a lower concentration of Leydig cells in the triad syndrome fetuses.

  8. White spot syndrome virus inactivation study by using gamma irradiation

    Science.gov (United States)

    Heidareh, Marzieh; Sedeh, Farahnaz Motamedi; Soltani, Mehdi; Rajabifar, Saeed; Afsharnasab, Mohammad; Dashtiannasab, Aghil

    2014-09-01

    The present study was conducted to investigate the effect of gamma irradiation on white spot syndrome virus (WSSV). White spot syndrome virus is a pathogen of major economic importance in cultured penaeid shrimp industries. White spot disease can cause mortalities reaching 100% within 3-10 days of gross signs appearing. During the period of culture, immunostimulant agents and vaccines may provide potential methods to protect shrimps from opportunistic and pathogenic microrganisms. In this study, firstly, WSSV was isolated from infected shrimp and then multiplied in crayfish. WSSV was purified from the infected crayfish haemolymph by sucrose gradient and confirmed by transmission electron microscopy. In vivo virus titration was performed in shrimp, Penaeus semisulcatus. The LD50 of live virus stock was calculated 10 5.4/mL. Shrimp post-larvae (1-2 g) were treated with gamma-irradiated (different doses) WSSV (100 to 10-4 dilutions) for a period of 10 days. The dose/survival curve for irradiated and un-irradiated WSSV was drawn; the optimum dose range for inactivation of WSSV and unaltered antigenicity was obtained 14-15 kGy. This preliminary information suggests that shrimp appear to benefit from treatment with gammairradiated WSSV especially at 14-15 KGy.

  9. A STUDY ON OCULAR FINDINGS IN CHILDREN WITH NEPHROTIC SYNDROME

    Directory of Open Access Journals (Sweden)

    Jezeela K

    2018-03-01

    Full Text Available BACKGROUND Nephrotic syndrome occurs when the filtering units of the kidneys- the glomeruli are damaged. The annual incidence of nephrotic syndrome ranges from 2-7 per 100,000 children. Oral corticosteroids form the cornerstone for management of most children with nephrotic syndrome. Long-term steroid therapy in childhood is associated with a number of significant adverse effectsmajor ophthalmic adverse effects include decreased vision, recurrent hordeolum, posterior subcapsular cataract, pseudotumour cerebri, visual hallucinations. This study aims to analyse the ocular findings in children with nephrotic syndrome, and their treatment related ocular abnormalities. MATERIALS AND METHODS This is a cross sectional study, conducted at The Department of Ophthalmology, Government Medical College Thrissur of 1-year duration. Study participants include patients who attended outpatient department of Paediatrics, Govt. Medical College, Thrissur, with clinical and objective investigational evidence of nephrotic syndrome. 70 children who were included in the study were interviewed with a questionnaire; Detailed history was taken from the patients and their parents, regarding the onset of the disease, treatment details, year of starting steroids, history of hypertension, additional drugs, history of defective vision, headache, allergic diseases of eye, eyelid swellings and use of spectacles. Visual acuity was assessed with Snellen s’ chart. Best corrected visual acuity was noted. Acuity was also measured with spectacles if the child was wearing them. Anterior segment was examined under torchlight and later in slit lamp and in all cases fundus examination and retinoscopy were done after dilating pupils with homatropine. Intraocular pressure was measured with Goldman Applanation Tonometer. RESULTS Since the sample size is small, the exact sex distribution cannot be ascertained. History of headache was present in 45 children (64.3%. Visual acuity was assessed

  10. Rehabilitation in locked-in-syndrome – a case study

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    Anna Grabowska

    2017-03-01

    Full Text Available Introduction: The locked-in syndrome is a neurological condition which occurs most often as a result of brainstem stroke, characterized by the presence of sustained eye opening, aphonia or severe hypophonia, quadriplegia or quadriparesis, preserved cognitive functioning, and a primary and elementary code of communication using vertical eye movements or blinking. This illness leads to complete physical disability of the person, accompanied with fully retained mental capability. Case study: The goal of the hereby work is to present a description of a case of a person with the locked-in syndrome, caused by ischemic stroke of the pons and left cerebellar hemisphere. The prognosis of improvement in LIS is bad. The patient has to adapt to the new, difficult situation that will probably accompany him for whole life. The article presents the therapeutic process from the onset through physical rehabilitation,  speech therapy and psychological  therapy until return home. The process requires patience from the patient and therapists and family members. Conclusion: Research in this area is supposed to help in planning of cooperation the entire medical team of doctors, nurses, physiotherapists, social workers, speech therapists and neuropsychologists. Interdisciplinary proceedings can greatly help to achieve even a minimal degree of independence and autonomy.

  11. Diabetes mellitus and optic atrophy: study of the Wolfram syndrome

    Science.gov (United States)

    Rivas-Gómez, Bernardette; Reza-Albarrán, Alfredo Adolfo

    2017-01-01

    Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico. Five patients fulfill the inclusion criteria (three male and two female). Diabetes mellitus was the first manifestation of the syndrome in all of them, with a mean age at diagnosis of 5.8 ± 2.71 years, while the WS diagnosis was established at a mean age of 15.8 ± 8.37 years. All the patients had optic atrophy and two of them presented with the complete DIDMOAD spectrum. We found new associations with autoimmune hepatitis and testicular cancer. This study shows the variability of clinical presentation of WS, as well as two new associations. Copyright: © 2017 SecretarÍa de Salud

  12. HOMA1-IR and HOMA2-IR indexes in identifying insulin resistance and metabolic syndrome - Brazilian Metabolic Syndrome Study (BRAMS)

    OpenAIRE

    Geloneze, B; Vasques, ACJ; Stabe, CFC; Pareja, JC; Rosado, LEFPD; de Queiroz, EC; Tambascia, MA

    2009-01-01

    Objective: To investigate cut-off values for HOMA1-IR and HOMA2-IR to identify insulin resistance (IR) and metabolic syndrome (MS), and to assess the association of the indexes with components of the MS. Methods: Nondiabetic subjects from the Brazilian Metabolic Syndrome Study were studied (n = 1,203, 18 to 78 years). The cut-off values for IR were determined from the 9011 percentile in the healthy group (n = 297) and, for MS, a ROC curve was generated for the total sample. Results: In the he...

  13. Parental Alienation Syndrome in Italian legal judgments: an exploratory study.

    Science.gov (United States)

    Lavadera, Anna Lubrano; Ferracuti, Stefano; Togliatti, Marisa Malagoli

    2012-01-01

    The present study highlights the characteristics of separated families in Italy for whom Parental Alienation Syndrome (PAS) has been diagnosed during court custody evaluations. The study analyzed the psychological reports of 12 court-appointed expert evaluations of families for whom PAS had been diagnosed. Twelve evaluations that did not receive the PAS diagnosis served as a control group. A specific coding system was used for data analysis. The results indicated that the alienating parents were always the parents who had custody of the children. Children who were diagnosed with PAS were predominantly the only child in the family, had identity problems and manifested manipulative behavior. The consultant in these cases suggested individual psychotherapy for the children and recommended foster care to the Social Services agency. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. EFFECT OF DANCE EXERCISE ON COGNITIVE FUNCTION IN ELDERLY PATIENTS WITH METABOLIC SYNDROME: A PILOT STUDY

    OpenAIRE

    Sang-Wook Song; Seo-Jin Park; Jung-hyoun Cho; Sung-Goo Kang; Hyun-Kook Lim; Yu-Bae Ahn; Minjeong Kim; Se-Hong Kim

    2011-01-01

    Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group). The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants...

  15. [Pathogenetic relationship between pterygium and dry eye syndrome (clinical and cytological study)].

    Science.gov (United States)

    Petraevskiĭ, A V; Trishkin, K S

    2014-01-01

    To study the prevalence of dry eye syndrome in patients with initial primary pterygium for determination of a possible pathogenetic role of dry eye syndrome in the development of pterygium. 30 patients with initial primary pterygium; besides conventional ophthalmic assessment, cytological examination of bulbar conjunctiva was performed in all cases. Signs of dry eye syndrome, of similar severity in both eyes, were found in 100% of patients. Dry eye can be one of the precipitating factors of primary pterygium.

  16. Study of Testicular Structure in Fetuses with Prune Belly Syndrome

    Directory of Open Access Journals (Sweden)

    Luciano A. Favorito

    2017-01-01

    Full Text Available Purpose. To compare the structure of the testis in fetuses with prune belly syndrome (PBS to normal controls. Materials and Methods. We studied 6 testes obtained from 3 fetuses with PBS and 14 testes from 7 male fetuses. The testicular specimens were cut into 5-μm thick sections and stained with hematoxylin and eosin (HE, to observe the seminiferous tubules; Weigert’s solution to observe elastic fibers; and picrosirius red to observe collagen. The images were captured with an Olympus BX51 microscope and Olympus DP70 camera. The stereological analysis was done with the Image Pro and Image J programs. Means were statistically compared using the Mann–Whitney U test (p<0.005. Results. Quantitative analysis documented no differences (p=0.4 in number of seminiferous tubules (ST in PBS testes (mean = 8.87%, SD=1.59, when compared to the control (mean = 11.4%, SD=2.99 and no differences (p=0.8 in diameter of ST in PBS testes (mean = 52.85 μm, SD=1.58 when compared to the control group (mean = 53.17 μm, SD=1.55, but we did observe a lower number (p=0.0002 of Leydig cells in the PBS testes (mean = 67.03% and SD=3.697 when compared to the control group (mean = 90.1% and SD=2.986. Conclusions. Our study showed a lower concentration of Leydig cells in the triad syndrome fetuses.

  17. Thrombocytopenia-absent radius syndrome: a clinical genetic study.

    NARCIS (Netherlands)

    Greenhalgh, K.L.; Howell, R.; Bottani, A.; Ancliff, P.J.; Brunner, H.G.; Verschuuren-Bemelmans, C.C.; Vernon, E.; Brown, K.W.; Newbury-Ecob, R.

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  18. Thrombocytopenia-absent radius syndrome : a clinical genetic study

    NARCIS (Netherlands)

    Greenhalgh, KL; Howell, RT; Bottani, A; Ancliff, PJ; Brunner, HG; Verschuuren-Bemelmans, CC; Vernon, E; Brown, KW; Newbury-Ecob, RA

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  19. Advances in the study of Lynch syndrome in China.

    Science.gov (United States)

    Lu, Jun-Yu; Sheng, Jian-Qiu

    2015-06-14

    Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers due to inherited mutations in mismatch repair (MMR) genes. During the last decades, there have been great advances in research on Chinese Lynch syndrome. This review mainly focuses on the genetic basis, clinicopathologic features, diagnosis, intervention, chemoprevention, and surveillance of Lynch syndrome in China. In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome. Most Chinese researchers focused on the clinicopathologic features of Lynch syndrome, and it is noticeable that the most frequent extracolonic tumor in northeast China is lung cancer, which is different from other areas in China. The Chinese diagnostic criteria for Lynch syndrome have been established to identify gene mutation or methylation. With regard to chemoprevention, celecoxib may be effective to prevent polyps relapse in Lynch syndrome carriers. Additionally, a colonoscopy-based surveillance strategy for the prevention and early detection of neoplasms in Lynch-syndrome carriers has been proposed.

  20. A study on phenomenology of Dhat syndrome in men in a general medical setting.

    Science.gov (United States)

    Prakash, Sathya; Sharan, Pratap; Sood, Mamta

    2016-01-01

    "Dhat syndrome" is believed to be a culture-bound syndrome of the Indian subcontinent. Although many studies have been performed, many have methodological limitations and there is a lack of agreement in many areas. The aim is to study the phenomenology of "Dhat syndrome" in men and to explore the possibility of subtypes within this entity. It is a cross-sectional descriptive study conducted at a sex and marriage counseling clinic of a tertiary care teaching hospital in Northern India. An operational definition and assessment instrument for "Dhat syndrome" was developed after taking all concerned stakeholders into account and review of literature. It was applied on 100 patients along with socio-demographic profile, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Mini International Neuropsychiatric Interview, and Postgraduate Institute Neuroticism Scale. For statistical analysis, descriptive statistics, group comparisons, and Pearson's product moment correlations were carried out. Factor analysis and cluster analysis were done to determine the factor structure and subtypes of "Dhat syndrome." A diagnostic and assessment instrument for "Dhat syndrome" has been developed and the phenomenology in 100 patients has been described. Both the health beliefs scale and associated symptoms scale demonstrated a three-factor structure. The patients with "Dhat syndrome" could be categorized into three clusters based on severity. There appears to be a significant agreement among various stakeholders on the phenomenology of "Dhat syndrome" although some differences exist. "Dhat syndrome" could be subtyped into three clusters based on severity.

  1. A Study of Early Fine Motor Intervention in Down's Syndrome Children

    Science.gov (United States)

    Aparicio, Teresa Sanz; Balana, Javier Menendez

    2009-01-01

    The marked delay in acquisition of fine motor skills in trisomic-21/Down's syndrome children is undeniable. In this study, we began with an affirmation that the cause of this deficit could be found in a different environment for which early intervention is essential. A sample of 30 Down's syndrome children was used to study at different ages: six…

  2. Coagulation Profile Dynamics in Pediatric Patients with Cushing Syndrome: A Prospective, Observational Comparative Study

    NARCIS (Netherlands)

    Birdwell, L. (Leah); M.B. Lodish (Maya Beth); Tirosh, A. (Amit); P. Chittiboina (Prashant); M. Keil (Mark); Lyssikatos, C. (Charlampos); Belyavskaya, E. (Elena); R.A. Feelders (Richard); C.A. Stratakis (Constantine)

    2016-01-01

    textabstractObjective To evaluate the association between Cushing syndrome and hypercoagulability in children. Study design A prospective, observational study was performed of 54 patients with Cushing syndrome, 15.1 ± 3.9 years, treated at the National Institutes of Health Clinical Center.

  3. A twin study of schizoaffective-mania, schizoaffective-depression, and other psychotic syndromes.

    Science.gov (United States)

    Cardno, Alastair G; Rijsdijk, Frühling V; West, Robert M; Gottesman, Irving I; Craddock, Nick; Murray, Robin M; McGuffin, Peter

    2012-03-01

    The nosological status of schizoaffective disorders remains controversial. Twin studies are potentially valuable for investigating relationships between schizoaffective-mania, schizoaffective-depression, and other psychotic syndromes, but no such study has yet been reported. We ascertained 224 probandwise twin pairs [106 monozygotic (MZ), 118 same-sex dizygotic (DZ)], where probands had psychotic or manic symptoms, from the Maudsley Twin Register in London (1948-1993). We investigated Research Diagnostic Criteria schizoaffective-mania, schizoaffective-depression, schizophrenia, mania and depressive psychosis primarily using a non-hierarchical classification, and additionally using hierarchical and data-derived classifications, and a classification featuring broad schizophrenic and manic syndromes without separate schizoaffective syndromes. We investigated inter-rater reliability and co-occurrence of syndromes within twin probands and twin pairs. The schizoaffective syndromes showed only moderate inter-rater reliability. There was general significant co-occurrence between syndromes within twin probands and MZ pairs, and a trend for schizoaffective-mania and mania to have the greatest co-occurrence. Schizoaffective syndromes in MZ probands were associated with relatively high risk of a psychotic syndrome occurring in their co-twins. The classification of broad schizophrenic and manic syndromes without separate schizoaffective syndromes showed improved inter-rater reliability, but high genetic and environmental correlations between the two broad syndromes. The results are consistent with regarding schizoaffective-mania as due to co-occurring elevated liability to schizophrenia, mania, and depression; and schizoaffective-depression as due to co-occurring elevated liability to schizophrenia and depression, but with less elevation of liability to mania. If in due course schizoaffective syndromes show satisfactory inter-rater reliability and some specific etiological

  4. Study on correspondence between prescription and syndrome and the essence of phlegm and blood stasis syndrome in coronary heart disease based on metabonomics.

    Science.gov (United States)

    Lu, Xiao-yan; Xu, Hao; Li, Geng; Zhao, Tie

    2014-01-01

    Studying the essence of a syndrome has been a key challenge in the field of Chinese medicine. Until now, due to limitations of the methods available, the progress towards understanding such complicated systems has been slow. Metabonomics encompasses the dynamics, composition and analysis of metabolites, enabling the observation of changes in the metabolic network of the human body associated with disease. Being from the point of view of the whole organism, metabonomics provides an opportunity to study the essence of a syndrome to an unprecedented level. Phlegm and blood stasis syndrome is the main syndrome associated with coronary heart disease (CHD), which bring difficulties in clinical treatment due to difficulties associated with differentiation of symptoms and signs. The fundamental differences of material between the two also need to be interpreted. The authors consider that we can use the method of combining a disease (in this case CHD) with associated syndromes (phlegm and blood stasis syndrome) to select patients with phlegm and blood stasis syndrome of CHD, and utilize metabonomics to explore the essence of the syndrome by difference analysis of metabolite spectra. Meanwhile, we can study the syndrome in CM, observe the change regularity of metabolism spectra after the treatment of corresponding and non-corresponding prescription and syndrome, in order to validate the material fundament in the progress of syndrome formation and their differences. This will not only have great significance in enhancing the ability to identify syndrome of phlegm and blood stasis in CHD and to establish the clinical curative criteria, but will also offer a new approach of studying the essence for a syndrome using metabonomics.

  5. Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.

    Science.gov (United States)

    Stochholm, Kirstine; Bojesen, Anders; Jensen, Anne Skakkebæk; Juul, Svend; Gravholt, Claus Højbjerg

    2012-01-01

    To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Register-based cohort study comparing the incidence of convictions among men with KS and with 47,XYY with age- and calendar-matched samples of the general population. Crime was classified into eight types (sexual abuse, homicide, burglary, violence, traffic, drug-related, arson and 'others'). Denmark 1978-2006. All men diagnosed with KS (N=934) or 47,XYY (N=161) at risk and their age- and calendar-time-matched controls (N=88 979 and 15 356, respectively). The incidence of convictions was increased in men with KS (omitting traffic offenses) compared to controls with a HR of 1.40 (95% CI 1.23 to 1.59, pXYY compared to controls with a HR of 1.42 (95% CI 1.14 to 1.77, pcrime types, except drug-related crimes and traffic. Adjusting for socioeconomic variables (education, fatherhood, retirement and cohabitation) reduced the total HR for both KS and 47,XYY to levels similar to controls, while some specific crime types (sexual abuse, arson, etc) remained increased. The overall risk of conviction (excluding traffic offenses) was moderately increased in men with 47,XYY or KS; however, it was similar to controls when adjusting for socioeconomic parameters. Convictions for sexual abuse, burglary, arson and 'others' were significantly increased. The increased risk of convictions may be partly or fully explained by the poor socioeconomic conditions related to the chromosome aberrations.

  6. Lifestyle factors are significantly associated with the locomotive syndrome: a cross-sectional study.

    Science.gov (United States)

    Akahane, Manabu; Yoshihara, Shingo; Maeyashiki, Akie; Tanaka, Yasuhito; Imamura, Tomoaki

    2017-10-18

    The Japanese Orthopedic Association first proposed the concept of "locomotive syndrome" in 2007. It refers to circumstances in which elderly people need nursing care services or are at high risk of requiring such services within a short time. Recently, the public health burden of providing nursing care for elderly individuals has increased. Therefore, locomotive syndrome, and the means of preventing it, are a major public health focus in Japan. The purpose of this study was to investigate the relationships of lifestyle factors, such as smoking, alcohol consumption, sleep duration, and dental health, with locomotive syndrome. We conducted a cross-sectional study using an internet panel survey. The participants comprised 747 individuals aged 30-90 years. Factors related to demographics (age, sex), general health (number of teeth, presence of periodontal disease), and lifestyle (smoking, alcohol consumption, sleep duration) were assessed. We also used the 25-question Geriatric Locomotive Function Scale to determine whether each participant had locomotive syndrome. Multivariate analysis was conducted using logistic regression to investigate the independent relationships between locomotive syndrome and lifestyle factors after adjusting for sex and age. A greater proportion of women (17.7%) than men (11.2%) had locomotive syndrome (p syndrome compared with those aged syndrome, whereas sleep duration was not. The frequency of alcohol consumption, except for daily drinking, was also associated with locomotive syndrome. Our study indicates that lifestyle factors, such as smoking and number of existing teeth, may partly affect the prevalence of locomotive syndrome. Hence, lifestyle modifications, such as improving oral hygiene and promoting cessation of smoking, are important means to reduce the risk of locomotive syndrome and should be promoted by public health staff.

  7. Prevalence of metabolic syndrome in Chinese psoriasis patients: A hospital-based cross-sectional study.

    Science.gov (United States)

    Gui, Xin-Yu; Yu, Xiao-Ling; Jin, Hong-Zhong; Zuo, Ya-Gang; Wu, Chao

    2018-01-01

    Psoriasis, a chronic autoimmune skin disorder, is believed to contribute to cardiovascular diseases and metabolic syndrome. Psoriasis's association with the components of metabolic syndrome has been reported previously. However, large-scale cross-sectional studies about psoriasis and metabolic syndrome are rare in China. We assessed the prevalence of metabolic syndrome in Chinese psoriasis patients and controls. A total of 859 psoriasis patients and 1,718 controls were recruited in an age- and sex-matched cross-sectional study. Metabolic syndrome occurred in 14.3% of the psoriasis patients as opposed to 10.0% of the control participants (P = 0.001). Psoriasis patients had a higher prevalence of overweight/obesity, hyperglycemia and dyslipidemia when compared with controls. Meanwhile, psoriasis patients with metabolic syndrome were older, and had an older age of onset and a longer disease duration when compared with those without metabolic syndrome. The prevalence of metabolic syndrome is higher in the Chinese psoriatic population, which can favor cardiovascular events. The present study strengthens the value of treating psoriasis patients not only dealing with the skin lesions, and we suggest appropriate screening and relevant health education be carried out in the treatment of psoriasis patients. © 2017 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

  8. Study of Different Social Rewards Used in Down's Syndrome Children's Early Stimulation

    Science.gov (United States)

    Sanz, Teresa; Menendez, Javier; Rosique, Teresa

    2011-01-01

    This article describes the results obtained with two types of social rewards used in early stimulation of Down's syndrome children. In the study we focus on the efficiency of the employment of the social rewards or reinforcements used in the early stimulation, bearing in mind that the children with Down's syndrome possess a social development…

  9. Complex regional pain syndrome 1 : a study on pain and motor impairments

    NARCIS (Netherlands)

    G.M. Ribbers (Gerard)

    2001-01-01

    textabstractThis thesis, is compiled of publications on reflex sympathetic dystrophy (RSD) or Complex Regional Pain Syndrome type 1 (CRPS 1), as it was renamed by the committee on taxonomy of the International Association for the Study of Pain (IASP). It is a puzzling syndrome both from a clinical

  10. [Behaviour problems of children with Down syndrome in preschool-age - Results from the Heidelberg Down syndrome study].

    Science.gov (United States)

    Sarimski, Klaus

    2018-05-01

    We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

  11. Complex regional pain syndrome 1 – the Swiss cohort study

    Directory of Open Access Journals (Sweden)

    Perez Roberto SGM

    2008-06-01

    Full Text Available Abstract Background Little is known about the course of Complex Regional Pain Syndrome 1 and potential factors influencing the course of this disorder over time. The goal of this study is a to set up a database with patients suffering from suspected CRPS 1 in an initial stadium, b to perform investigations on epidemiology, diagnosis, prognosis, and socioeconomics within the database and c to develop a prognostic risk assessment tool for patients with CRPS 1 taking into account symptomatology and specific therapies. Methods/design Prospective cohort study. Patients suffering from a painful swelling of the hand or foot which appeared within 8 weeks after a trauma or a surgery and which cannot be explained by conditions that would otherwise account for the degree of pain and dysfunction will be included. In accordance with the recommendations of International Classification of Functioning, Disability and Health (ICF model, standardised and validated questionnaires will be used. Patients will be monitored over a period of 2 years at 6 scheduled visits (0 and 6 weeks, 3, 6, 12, and 24 months. Each visit involves a physical examination, registration of therapeutic interventions, and completion of the various study questionnaires. Outcomes involve changes in health status, quality of life and costs/utility. Discussion This paper describes the rationale and design of patients with CRPS 1. Ideally, potential risk factors may be identified at an early stage in order to initiate an early and adequate treatment in patients with increased risk for delayed recovery. Trial registration Not applicable

  12. Oculomotor neurocircuitry, a structural connectivity study of infantile nystagmus syndrome.

    Directory of Open Access Journals (Sweden)

    Nasser H Kashou

    Full Text Available Infantile nystagmus syndrome (INS is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI. Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics. The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left, brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS.

  13. A Pooled Genome-Wide Association Study of Asperger Syndrome.

    Directory of Open Access Journals (Sweden)

    Varun Warrier

    Full Text Available Asperger Syndrome (AS is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC, which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448 were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448 lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

  14. Gorlin-Goltz syndrome and neoplasms: a case study.

    Science.gov (United States)

    Lopes, Nilza N F; Caran, Eliana M; Lee, Maria Lucia; Silva, Nasjla Saba; Rocha, André Caroli; Macedo, Carla R D

    2010-01-01

    Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations nd malignant neoplasias.

  15. Usher syndrome in Puerto Rico: a clinical and genetic study.

    Science.gov (United States)

    Colón-Casasnovas, Jaime E; Izquierdo, Natalio J; Millán, Jose M

    2010-01-01

    To evaluate patients with the Usher syn drome in Puerto Rico. Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.

  16. [Differentiation Study of Chinese Medical Syndrome Typing for Diarrhea-predominant Irritable Bowel Syndrome Based on Information of Four Chinese Medical Diagnostic Methods and Brain-gut Peptides].

    Science.gov (United States)

    Wu, Hao-meng; Xu, Zhi-wei; Ao, Hai-qing; Shi, Ya-fei; Hu, Hai-yan; Ji, Yun-peng

    2015-10-01

    To establish discriminant functions of diarrhea-predominant irritable bowel syndrome (IBS-D) by studying it from quantitative diagnosis angle, hoping to reduce interference of subjective factors in diagnosing and differentially diagnosing Chinese medical syndromes of IBS-D. A Chinese medical clinical epidemiological survey was carried out in 439 IBS-D patients using Clinical Information Collection Table of IBS. Initial syndromes were obtained by cluster analysis. They were analyzed using step-by-step discrimination by taking information of four Chinese medical diagnostic methods and serum brain-gut peptides (BGP) as variables. Clustering results were Gan stagnation Pi deficiency syndrome (GSPDS), Pi-Wei weakness syndrome (PWWS), Gan stagnation qi stasis syndrome (GSQSS), Pi-Shen yang deficiency syndrome (PSYDS), Pi-Wei damp-heat syndrome (PWDHS), cold-damp disturbing Pi syndrome (CDDPS). Of them, GSPDS was mostly often seen with effective percentage of 34. 2%, while CDDPS was the least often seen with effective percentage of 5.5%. A total of 5 discriminant functions for GSPDS, PWWS, GSQSS, PSYDS, and PWDHS were obtained by step-by-step dis- crimination method. The retrospective misjudgment rate was 4.1% (16/390), while the cross-validation misjudgment rate was 15.4% (60/390). The establishment of discriminant functions is of value in objectively diagnosing and differentially diagnosing Chinese medical syndromes of IBS-D.

  17. The Significance of Brain Transcranial Sonography in Burning Mouth Syndrome: a Pilot Study.

    Science.gov (United States)

    Zavoreo, Iris; Vučićević, Vanja; Boras; Zadravec, Dijana; Bašić, Vanja; Kes; Ciliga, Dubravka; Gabrić, Dragana

    2017-03-01

    Burning mouth syndrome (BMS) is a chronic disorder which is affecting mostly postmenopausal women and is characterized by burning symptoms in the oral cavity on the clinically healthy oral mucosa. Also, the results of previous studies suggested a possible role of peripheral and/or central neurological disturbances in these patients. The aim of this study was to analyze patients with burning mouth syndrome using transcranial sonography. By use of transcranial sonography of the brain parenchyma, substantia nigra , midbrain raphe and brain nucleus were evaluated in 20 patients with BMS (64.7±12.3 years) and 20 controls with chronic pain in the lumbosacral region (61.5±15). Statistical analysis was performed by use of Student t test with significance set at pburning mouth syndrome might reflect central disturbances within this syndrome. Burning Mouth Syndrome; Transcranial Sonography; substantia nigra; Midbrain Raphe Nuclei; Red Nucleus.

  18. Risk of Nephrotic Syndrome following Enteroviral Infection in Children: A Nationwide Retrospective Cohort Study.

    Science.gov (United States)

    Lin, Jiun-Nong; Lin, Cheng-Li; Yang, Chi-Hui; Lin, Ming-Chia; Lai, Chung-Hsu; Lin, Hsi-Hsun; Kao, Chia-Hung

    2016-01-01

    Nephrotic syndrome is a common chronic illness encountered during childhood. Infections have been identified as a cause of nephrotic syndrome. The aim of this study was to evaluate the association between enteroviral infection and nephrotic syndrome. A nationwide retrospective cohort study was conducted by analyzing data from the National Health Insurance Research Database in Taiwan. Children aged children were randomly selected as the comparison cohort. The primary endpoint was the occurrence of nephrotic syndrome. This study included 280,087 enterovirus-infected children and 280,085 non-enterovirus-infected children. The mean age of the enterovirus-infected children was 2.38 years, and 53.7% of these children were boys. The overall incidence densities of nephrotic syndrome for enterovirus- and non-enterovirus-infected children were 2.65 and 2.21 per 10,000 person-years, respectively. The enterovirus-infected cohort had a higher cumulative incidence of nephrotic syndrome than did the non-enterovirus-infected cohort (log-rank test, p = 0.01). Multivariable analyses revealed that children with enteroviral infection were significantly associated with an increased risk of nephrotic syndrome compared with those without enteroviral infection (adjusted hazard ratio, 1.20; 95% confidence interval, 1.04-1.39; p = 0.01), particularly in children infected with coxsackievirus. Subgroup analyses revealed that enterovirus-infected girls, children of blue-collar workers, and children without allergies had a higher risk of nephrotic syndrome than did children in the non-enterovirus-infected cohort. This study revealed a significant association between enteroviral infection and nephrotic syndrome. Additional studies elucidating the role and pathogenesis of enterovirus in nephrotic syndrome are warranted.

  19. Herbal Medicines and Ovarian Hyperstimulation Syndrome: A Retrospective Cohort Study

    Directory of Open Access Journals (Sweden)

    Athar Rasekhjahromi

    2016-01-01

    Full Text Available Background. The aim of this study was to assess the association between herbal medication and OHSS. Methods. This retrospective cohort study was conducted with 101 polycystic ovary syndrome patients. 66 patients took conventional pharmacological medications and 35 took herbal medications. Data were analyzed by statistical test including Fisher’s Exact and binominal logistic regression. P<0.05 was considered significant. Results. Of the 101 females, 53 were married and 48 were single. There was no significant association between the groups in marriage. No significant association was found in mean age between the two groups (23.9 ± 5.8 years in the control group versus 26.3 ± 6.7 years in the case group. There was a significant difference between the two groups .After adding the dependent (OHSS prevalence and independent (marriage and group variables into the model, the Hosmer-Lemeshow test showed suitability. Variances analyzed with this model ranged between 29.4% and 40.7%. Conclusion. The indiscriminate use of herbs is correlated with OHSS. Because patients increasingly consume herbs, they should be aware of potential side effects. However, appropriate dosages of herbs could be obtained for use instead of conventional treatments, which often have side effects.

  20. Genome-wide association study of Tourette Syndrome

    Science.gov (United States)

    Scharf, Jeremiah M.; Yu, Dongmei; Mathews, Carol A.; Neale, Benjamin M.; Stewart, S. Evelyn; Fagerness, Jesen A; Evans, Patrick; Gamazon, Eric; Edlund, Christopher K.; Service, Susan; Tikhomirov, Anna; Osiecki, Lisa; Illmann, Cornelia; Pluzhnikov, Anna; Konkashbaev, Anuar; Davis, Lea K; Han, Buhm; Crane, Jacquelyn; Moorjani, Priya; Crenshaw, Andrew T.; Parkin, Melissa A.; Reus, Victor I.; Lowe, Thomas L.; Rangel-Lugo, Martha; Chouinard, Sylvain; Dion, Yves; Girard, Simon; Cath, Danielle C; Smit, Jan H; King, Robert A.; Fernandez, Thomas; Leckman, James F.; Kidd, Kenneth K.; Kidd, Judith R.; Pakstis, Andrew J.; State, Matthew; Herrera, Luis Diego; Romero, Roxana; Fournier, Eduardo; Sandor, Paul; Barr, Cathy L; Phan, Nam; Gross-Tsur, Varda; Benarroch, Fortu; Pollak, Yehuda; Budman, Cathy L.; Bruun, Ruth D.; Erenberg, Gerald; Naarden, Allan L; Lee, Paul C; Weiss, Nicholas; Kremeyer, Barbara; Berrío, Gabriel Bedoya; Campbell, Desmond; Silgado, Julio C. Cardona; Ochoa, William Cornejo; Restrepo, Sandra C. Mesa; Muller, Heike; Duarte, Ana V. Valencia; Lyon, Gholson J; Leppert, Mark; Morgan, Jubel; Weiss, Robert; Grados, Marco A.; Anderson, Kelley; Davarya, Sarah; Singer, Harvey; Walkup, John; Jankovic, Joseph; Tischfield, Jay A.; Heiman, Gary A.; Gilbert, Donald L.; Hoekstra, Pieter J.; Robertson, Mary M.; Kurlan, Roger; Liu, Chunyu; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Strengman, Eric; Ophoff, Roel; Wagner, Michael; Moessner, Rainald; Mirel, Daniel B.; Posthuma, Danielle; Sabatti, Chiara; Eskin, Eleazar; Conti, David V.; Knowles, James A.; Ruiz-Linares, Andres; Rouleau, Guy A.; Purcell, Shaun; Heutink, Peter; Oostra, Ben A.; McMahon, William; Freimer, Nelson; Cox, Nancy J.; Pauls, David L.

    2012-01-01

    Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder. PMID:22889924

  1. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  2. Associations Between Adiposity and Metabolic Syndrome Over Time: The Healthy Twin Study.

    Science.gov (United States)

    Song, Yun-Mi; Sung, Joohon; Lee, Kayoung

    2017-04-01

    We evaluated the association between changes in adiposity traits including anthropometric and fat mass indicators and changes in metabolic syndrome traits including metabolic syndrome clustering and individual components over time. We also assessed the shared genetic and environmental correlations between the two traits. Participants were 284 South Korean twin individuals and 279 nontwin family members had complete data for changes in adiposity traits and metabolic syndrome traits of the Healthy Twin study. Mixed linear model and bivariate variance-component analysis were applied. Over a period of 3.1 ± 0.6 years of study, changes in adiposity traits [body mass index (BMI), waist circumference, total fat mass, and fat mass to lean mass ratio] had significant associations with changes in metabolic syndrome clustering [high blood pressure, high serum glucose, high triglycerides (TG), and low high-density lipoprotein cholesterol] after adjusting for intra-familial and sibling correlations, age, sex, baseline metabolic syndrome clustering, and socioeconomic factors and health behaviors at follow-up. Change in BMI associated significantly with changes in individual metabolic syndrome components compared to other adiposity traits. Change in metabolic syndrome component TG was a better predictor of changes in adiposity traits compared to changes in other metabolic components. These associations were explained by significant environmental correlations but not by genetic correlations. Changes in anthropometric and fat mass indicators were positively associated with changes in metabolic syndrome clustering and those associations appeared to be regulated by environmental influences.

  3. Occurrence of refeeding syndrome in adults started on artificial nutrition support: prospective cohort study.

    Science.gov (United States)

    Rio, Alan; Whelan, Kevin; Goff, Louise; Reidlinger, Dianne Patricia; Smeeton, Nigel

    2013-01-11

    Refeeding syndrome is a potentially life-threatening condition characterised by severe intracellular electrolyte shifts, acute circulatory fluid overload and organ failure. The initial symptoms are non-specific but early clinical features are severely low-serum electrolyte concentrations of potassium, phosphate or magnesium. Risk factors for the syndrome include starvation, chronic alcoholism, anorexia nervosa and surgical interventions that require lengthy periods of fasting. The causes of the refeeding syndrome are excess or unbalanced enteral, parenteral or oral nutritional intake. Prevention of the syndrome includes identification of individuals at risk, controlled hypocaloric nutritional intake and supplementary electrolyte replacement. To determine the occurrence of refeeding syndrome in adults commenced on artificial nutrition support. Prospective cohort study. Large, single site university teaching hospital. Recruitment period 2007-2009. 243 adults started on artificial nutrition support for the first time during that admission recruited from wards and intensive care. occurrence of the refeeding syndrome. Secondary outcome: analysis of the risk factors which predict the refeeding syndrome. Tertiary outcome: mortality due to refeeding syndrome and all-cause mortality. 133 participants had one or more of the following risk factors: body mass index 15% in the preceding 3-6 months, very little or no nutritional intake >10 days, history of alcohol or drug abuse and low baseline levels of serum potassium, phosphate or magnesium prior to recruitment. Poor nutritional intake for more than 10 days, weight loss >15% prior to recruitment and low-serum magnesium level at baseline predicted the refeeding syndrome with a sensitivity of 66.7%: specificity was >80% apart from weight loss of >15% which was 59.1%. Baseline low-serum magnesium was an independent predictor of the refeeding syndrome (p=0.021). Three participants (2% 3/243) developed severe electrolyte shifts

  4. Association between pancreatic fat and incidence of metabolic syndrome: a 5-year Japanese cohort study.

    Science.gov (United States)

    Yamazaki, Hajime; Tauchi, Shinichi; Kimachi, Miho; Dohke, Mitsuru; Hanawa, Nagisa; Kodama, Yoshihisa; Katanuma, Akio; Yamamoto, Yosuke; Fukuma, Shingo; Fukuhara, Shunichi

    2018-04-26

    Previous cross-sectional studies showed that pancreatic fat was associated with metabolic syndrome. However, no longitudinal study has evaluated whether people with high pancreatic fat are likely to develop future metabolic syndrome. This study investigated the association between baseline pancreatic fat and metabolic syndrome incidence. In 2008-2009, 320 participants without metabolic syndrome underwent health checks, which included unenhanced computed tomography, and were followed up annually for 4-5 years. Baseline pancreatic fat amounts were evaluated using a histologically validated method that measured differences between pancreas and spleen attenuations on computed tomography. The participants were divided into low (reference), intermediate, and high pancreatic fat groups based on pancreas and spleen attenuation tertiles. Metabolic syndrome incidence was evaluated annually over a median follow-up period of 4.99 (interquartile range, 4.88-5.05) years, in accordance with the 2009 harmonized criteria. Risk ratios (RRs) for the association between baseline pancreatic fat amounts and metabolic syndrome incidence were estimated using Poisson regression models adjusted for age, sex, body mass index, liver fat, pre-metabolic syndrome, cigarette use, alcohol use, and physical activity. Metabolic syndrome incidence was 30.6% (98/320). Pancreatic fat was associated with an increased incidence of metabolic syndrome, based on a univariate analysis (RRs [95% confidence interval], 3.14 [1.74-5.67] and 3.96 [2.23-7.03] in the intermediate and high pancreatic fat groups, respectively). The association remained statistically significant in the multivariate analysis (RR [95% confidence interval], 2.04 [1.14-3.64] and 2.30 [1.28-4.14] for the same groups, respectively). Pancreatic fat predicts the future risk of metabolic syndrome. © 2018 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  5. [Obstructive sleep apnea syndrome. Analytical study of 63 cases].

    Science.gov (United States)

    Battikh, Mohamed H; Joobeur, Sameh; Ben Sayeh, Mohamed M; Rouetbi, Naceur; Maatallah, Anis; Daami, Monia; el Kamel, Ali

    2004-02-01

    Obstructive sleep apnoea (OSA) is a relatively common disorder, in developed country with prevalence estimated to lie between 2 and 4% in adult population. The diagnosis of this syndrome is made on the basis of characteristic clinical features and the results of nocturnal polysomnography. There is no data concerning the OSA in developing country. It is therefore of interest to determine the clinic and polysomnographic profile of this disease and to landmark factors correlated with severity in our country. This was achieved by studying a set of 63 OSA. The mean of age was 53 + 13 years with sex ratio 1. The means of Epworth sleepiness scale score, BMI and Apnoea/Hypopnoea index (AHI) were respectively 16 + 4, 38.8 + 7 kg/m2 and 51.7 + 28.6. 44% of patients have OSA severe with IAH > 50/h. Arousal index and desaturation index were respectively 36.4 + 21.7 and 49 + 26. Trial of continuous positive airway pressure (CPAP) therapy was proposed first to 40 patients, 17 were able to use CPAP.

  6. Temporomandibular disorders in burning mouth syndrome patients: an observational study.

    Science.gov (United States)

    Corsalini, Massimo; Di Venere, Daniela; Pettini, Francesco; Lauritano, Dorina; Petruzzi, Massimo

    2013-01-01

    Burning Mouth Syndrome (BMS) is a chronic disease characterized by absence of any lesions and burning of the oral mucosa associated to a sensation of dry mouth and/or taste alterations. The purpose of our study is to estimate signs and symptoms of Temporomandibular Disorders (TMD) in patients with BMS and to investigate for the existence of an association between BMS and TMD. Forty-four BMS patients were enrolled; BMS subtype was established according to the classification of Lamey. After a gnathological evaluation, according to the protocol of the European Academy of Craniomandibular Disorders, patients were classified by RDC/TMD criteria. The data were compared and analyzed using a chi-square test to describe the existence of an association between BMS and TMD. 65.9% the BMS patients showed disorders classified as primary signs and symptoms of TMD according to RDC / TMD criteria, and 72.7% showed parafunctional habits. The chi-square test revealed a statistically significant association (p = 0.035) between BMS and TMD. The data suggest that there is a possible relationship not yet well understood between BMS and TMD, may be for neurophatic alterations assumed for BMS that could be also engaged in TMD pathogenesis.

  7. Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

    Science.gov (United States)

    Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W

    2013-05-01

    The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

  8. A Longitudinal Follow-Up Study of Affect in Children and Adults with Cornelia de Lange Syndrome

    Science.gov (United States)

    Nelson, Lisa; Moss, Jo; Oliver, Chris

    2014-01-01

    Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

  9. Late whiplash syndrome: a clinical and magnetic resonance imaging study.

    Science.gov (United States)

    Bonuccelli, U; Pavese, N; Lucetti, C; Renna, M R; Gambaccini, G; Bernardini, S; Canapicchi, R; Carrozzi, L; Murri, L

    1999-01-01

    Cervical hyperextension injuries are common and are associated with significant morbidity. Clinically two syndromes are described: "acute" whiplash syndrome and "late" whiplash syndrome (in which the patients are still symptomatic after six months despite normal physical and radiological examination). In order to clarify the pathology of the persistent pain in late whiplash syndrome we performed a cervical spine magnetic resonance imaging (MRI) in 33 consecutive patients suffering from this condition. Twenty-six patients (78.8%) showed MRI abnormalities, the most common MRI finding (57.6%) was pre-existent spondylosis. Indeed, the group of patients with spondylosis and other MRI changes had higher clinical scores than those without MRI abnormalities as measured by a three-point grading system based upon the symptoms and signs shown. Several MRI changes, most of them already demonstrable by standard X-ray were seen among 33 patients suffering from late whiplash syndrome. Although no one of these findings appears to be specific and certainly related to the previous neck injury, they could represent a risk factor for a longer pain duration.

  10. Adiponectin Levels and Longitudinal Changes in Metabolic Syndrome: The Healthy Twin Study.

    Science.gov (United States)

    Song, Yun-Mi; Lee, Kayoung; Sung, Joohon

    2015-09-01

    We investigated the association of plasma adiponectin levels with longitudinal changes in metabolic syndrome and the metabolic syndrome-related traits [insulin and homeostasis model assessment of insulin resistance (HOMA-IR)], as well as their genetic and environmental correlations. A total of 1030 Koreans (380 men and 650 women; 44.0 ± 12.7 years old) without diabetes of the Healthy Twin Study visited at baseline (2005-2010) and returned for a follow-up examination 3.7 ± 1.2 years later. Baseline plasma adiponectin, metabolic syndrome components [waist circumference (WC), glucose, blood pressure, high-density lipoprotein cholesterol (HDL-C), and triglycerides (TGs)] and metabolic syndrome-related traits were measured at baseline and follow-up. After adjusting for age, sex, smoking, alcohol consumption, physical activity, caloric intake, education level, body mass index (BMI), family history of diabetes, and changes in BMI, 1 standard deviation increment in baseline adiponectin levels was associated with 38-63% lower odds of incident and persistent metabolic syndrome. After additionally adjusting for the baseline levels of each trait, baseline adiponectin levels were inversely associated with WC, blood pressure, insulin, HOMA-IR, and TGs values at follow-up. After adjusting for age, sex, and baseline values of each trait or sum of metabolic syndrome components, baseline adiponectin levels exhibited significantly inverse genetic and environmental correlations with insulin, HOMA-IR, and HDL-C values and the sum of metabolic syndrome components at follow-up. High adiponectin levels reduce the risk of developing metabolic syndrome and having persistent metabolic syndrome and increase of metabolic syndrome-related traits over time. These associations may be explained by pleiotropic genetic mechanisms.

  11. När E-sport blir en reseanledning : Motivation att resa som åskådare till E-sportsevenemang

    OpenAIRE

    Nordkvist, David

    2017-01-01

    E-sport is one of the fastest growing sports in the world. Hundreds ofthousands interested people travel every year as spectators to E-sport eventswhen professional E-sport stars compete against each other in the biggestgames in the world. It is an important subject to study because of the lack ofresearch and because of the recent growth of interest for E-sport in theworld. The aim of this thesis is to identify the motives behind travel to E-sport events. To answer the purpose of the thesis a...

  12. Studying Different Clinical Syndromes Of Paediatric Severe Malaria Using Plasma Proteomics

    KAUST Repository

    Ramaprasad, Abhinay

    2012-01-01

    challenges of studying the severe malaria syndromes using proteomics were the high complexity and variability among the samples. We hypothesized that hepatic injury and nitric oxide play roles in the pathophysiology of cerebral malaria and respiratory

  13. Study of clinical parameters and laboratory evaluation of metabolic syndrome in adolescents

    Directory of Open Access Journals (Sweden)

    Ayesha Imran

    2015-01-01

    Full Text Available Introduction: Worldwide incidence of obesity is rising. Genetic predisposition, urbanization, sedentary lifestyle, television watching, food habits, and lack of exercise are contributing factors. They result in obesity-related morbidity like metabolic syndrome, stroke in young, coronary artery disease, and diabetes. Materials and Methods: A cross-sectional study was undertaken among 1000 adolescents of both genders, aged 12-19 years in three schools of Pimpri, Pune, after obtaining approval from Institutional Ethical Committee. The criterion used to diagnose metabolic syndrome was International Diabetes Federation definition. The Chi-square test was used to explore the association between metabolic syndrome and various predictors. A P value of 0.05 was accepted as the level of statistical significance. Results: In the study sample, the prevalence of metabolic syndrome was 16/1000. Females were more likely to have metabolic syndrome (male:female = 7:9. Factors associated were body mass index (BMI, waist-hip ratio (WHR, birth weight, skin fold thickness, body fat percentage, faulty dietary habits, and sedentary lifestyles (P < 0.05. Among all, the components of metabolic syndrome, raised triglyceride (75%, and fasting blood sugar level (75% were more prevalent than high-density lipoprotein-cholesterol (44% and hypertension (37.5%. Conclusion: Metabolic syndrome was found to be more prevalent in females of age group 16-19 years, among the obese population, associated with birth weight, BMI, and WHR.

  14. Chronic fatigue syndrome--a controlled cross sectional study

    DEFF Research Database (Denmark)

    Rasmussen, A K; Nielsen, H; Andersen, V

    1994-01-01

    OBJECTIVE. To look for signs of immunodeficiencies and/or longstanding infections underlying chronic fatigue syndrome (CFS). METHODS. Twenty-one patients fulfilling the Centers for Disease Control criteria for CFS were compared to 21 age and sex matched controls. A number of viral antibodies...

  15. Incontinence in Individuals with Rett Syndrome: A Comparative Study

    NARCIS (Netherlands)

    Giesbers, S.A.H.; Didden, H.C.M.; Radstaake, M.; Korzilius, H.P.L.M.; Gontard, A. von; Lang, R.; Smeets, E.E.J.; Curfs, L.M.G.

    2012-01-01

    Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control

  16. Holt Oram syndrome : a registry-based study in Europe

    NARCIS (Netherlands)

    Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen

    2014-01-01

    Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods: The

  17. Genome-wide association study of Tourette's syndrome

    NARCIS (Netherlands)

    Scharf, J. M.; Yu, D.; Mathews, C. A.; Neale, B. M.; Stewart, S. E.; Fagerness, J. A.; Evans, P.; Gamazon, E.; Edlund, C. K.; Service, S. K.; Tikhomirov, A.; Osiecki, L.; Illmann, C.; Pluzhnikov, A.; Konkashbaev, A.; Davis, L. K.; Han, B.; Crane, J.; Moorjani, P.; Crenshaw, A. T.; Parkin, M. A.; Reus, V. I.; Lowe, T. L.; Rangel-Lugo, M.; Chouinard, S.; Dion, Y.; Girard, S.; Cath, D. C.; Smit, J. H.; King, R. A.; Fernandez, T. V.; Leckman, J. F.; Kidd, K. K.; Kidd, J. R.; Pakstis, A. J.; State, M. W.; Herrera, L. D.; Romero, R.; Fournier, E.; Sandor, P.; Barr, C. L.; Phan, N.; Gross-Tsur, V.; Benarroch, F.; Pollak, Y.; Budman, C. L.; Bruun, R. D.; Erenberg, G.; Naarden, A. L.; Hoekstra, P. J.

    2013-01-01

    Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association

  18. Prenatal diagnosis of Down syndrome: A 13-year retrospective study

    Directory of Open Access Journals (Sweden)

    Ana Vičić

    2017-12-01

    Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

  19. The effect of liraglutide on weight loss in women with polycystic ovary syndrome: an observational study

    OpenAIRE

    Christina Bording Rasmussen; Svend eLindenberg

    2014-01-01

    AbstractObjective: The aim of the present study was to evaluate the effect of the glucagon-like peptide-1 analogue liraglutide on weight loss in overweight and obese women with polycystic ovary syndrome. Methods: In an observational study, 84 overweight or obese women with polycystic ovary syndrome were treated with liraglutide. Baseline characteristics and weight changes at clinical follow-up were recorded. Main outcome measures were absolute and relative weight loss.Results: In overweight o...

  20. Case Study of Oriental Medicine Treatment with acupotomy Therpy of the Tarsal tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    Lim Na-ra

    2009-03-01

    Full Text Available Purpose : In order to estimate clinical effects of Oriental Medicine Treatment with acupotomy therapy of Tarsal tunnel Syndrome Methods : From 5th November, 2008 to 8th November, 2008, 1 male patient diagnosed as Tarsal tunnel syndrome(clinical diagnosed was treated with general oriental medicine therapy (acupuncture, moxibustion, cupping, physical therapy, herbal medication and acupotomy. Results : The patient's Rt foot paresthesia, pain were remarkably improved. Conclusions : This study demonstrates that oriental medical treatment with acuputomy therapy has notable effect in improving symptoms of tarsal tunnel syndrome. as though we had not wide experience in this treatment, more research is needed.

  1. Irritable bowel syndrome--prognosis and diagnostic safety. A 5-year follow-up study

    DEFF Research Database (Denmark)

    Svendsen, Jesper Hastrup; Munck, L K; Andersen, J R

    1985-01-01

    The irritable bowel syndrome is the commonest diagnosis in gastroenterological clinics, although diagnostic criteria and investigatory programs vary. To elucidate the diagnostic safety and prognosis of the syndrome, a retrospective study was conducted. One hundred and twelve consecutive patients...... with irritable bowel syndrome as the final and only abdominal diagnosis in the period 1977-79 were followed up in 1984. Seventeen patients died during the follow-up period; two of these were considered diagnostic failures (chronic pancreatitis and pancreatic cancer). Of the remaining 95 patients, 93 were...

  2. A methodological framework for the evaluation of syndromic surveillance systems: a case study of England.

    Science.gov (United States)

    Colón-González, Felipe J; Lake, Iain R; Morbey, Roger A; Elliot, Alex J; Pebody, Richard; Smith, Gillian E

    2018-04-24

    Syndromic surveillance complements traditional public health surveillance by collecting and analysing health indicators in near real time. The rationale of syndromic surveillance is that it may detect health threats faster than traditional surveillance systems permitting more timely, and hence potentially more effective public health action. The effectiveness of syndromic surveillance largely relies on the methods used to detect aberrations. Very few studies have evaluated the performance of syndromic surveillance systems and consequently little is known about the types of events that such systems can and cannot detect. We introduce a framework for the evaluation of syndromic surveillance systems that can be used in any setting based upon the use of simulated scenarios. For a range of scenarios this allows the time and probability of detection to be determined and uncertainty is fully incorporated. In addition, we demonstrate how such a framework can model the benefits of increases in the number of centres reporting syndromic data and also determine the minimum size of outbreaks that can or cannot be detected. Here, we demonstrate its utility using simulations of national influenza outbreaks and localised outbreaks of cryptosporidiosis. Influenza outbreaks are consistently detected with larger outbreaks being detected in a more timely manner. Small cryptosporidiosis outbreaks (framework constitutes a useful tool for public health emergency preparedness in multiple settings. The proposed framework allows the exhaustive evaluation of any syndromic surveillance system and constitutes a useful tool for emergency preparedness and response.

  3. Association between habitual daytime napping and metabolic syndrome: a population-based study.

    Science.gov (United States)

    Lin, Diaozhu; Sun, Kan; Li, Feng; Qi, Yiqin; Ren, Meng; Huang, Chulin; Tang, Juying; Xue, Shengneng; Li, Yan; Yan, Li

    2014-12-01

    Our objective was to evaluate the association between habitual daytime napping and the prevalence of metabolic syndrome. We conducted a population-based study of 8,547 subjects aged 40 years or older. Metabolic syndrome was defined according to a harmonized definition from a joint statement and the recommended thresholds for the Chinese population. Information about sleep duration was self-reported. The prevalence of metabolic syndrome in the no daytime napping group, the 0 to 1 hour daytime napping group and the more than 1 hour daytime napping group were 35.0%, 36.0% and 44.5% among the females (Pnapping hours were positively associated with parameters of metabolic syndrome in the female subjects, including waist circumference, systolic blood pressure, triglycerides and fasting plasma glucose (Pnapping females, napping for more than 1 hour was independently associated with an increased prevalence of metabolic syndrome (odds ratio 1.39, 95% confidence interval, 1.13-1.72). Compared to the female subjects in the no daytime napping group, those habitually napped for more than 1 hour exhibited 46% and 26% increases in the prevalence of central obesity and hypertriglyceridemia (all Pnapping hours and metabolic syndrome among the male subjects. Daytime napping is associated with an increased prevalence of metabolic syndrome in middle-aged non-obese Chinese women. Copyright © 2014. Published by Elsevier Inc.

  4. New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

    Science.gov (United States)

    Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra

    2018-03-01

    To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.

  5. [Clinical study of 12 cases with obstetric mirror syndrome].

    Science.gov (United States)

    Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

    2012-03-01

    To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

  6. Clinical Study on 1 Case of Klippel-Trenaunay-Weber Syndrome

    Directory of Open Access Journals (Sweden)

    Chang-Kil, Yoo

    2002-12-01

    Full Text Available Objective : This study was performed to evaluate the treatment of Acupuncture therapy including Herbal Acupuncture theraphy and Korean Bee Venom Theraphy in Klippel-Trenaunay-Weber Syndrome. Methods : We treated 1 case of Klippel-Trenaunay-Weber Syndrome patient with mainly Korean Bee Venom Theraphy, and herbal Acupuncture, acupuncture theraphy from 27th August, 2001 to February, 2003. Results : After 3 weeks of Korean Bee Venom Theraphy, and herbal Acupuncture, acupuncture theraphy, a remarkable improvement was made for Klippel-Trenaunay-Weber Syndrome. Conclusions : Korean Bee Venom Theraphy and other acupuncture therapies were effective in reducing the symptoms. We think that it need the further study and clinical trial for Klippel-Trenaunay-Weber Syndrome.

  7. Structural study of gubernaculum testis in fetuses with prune belly syndrome.

    Science.gov (United States)

    Costa, Suelen F; Costa, Waldemar S; Sampaio, Francisco J B; Favorito, Luciano A

    2015-05-01

    We compared and contrasted the structure of the gubernaculum testis in fetuses with prune belly syndrome and normal controls. We studied a total of 6 gubernacula from 3 male fetuses with prune belly syndrome and a total of 14 from 7 male fetuses without an anomaly. Gubernacular specimens were cut into 5 μm sections and stained with Masson trichrome to quantify connective tissue and smooth muscle cells, with Weigert stain to observe elastic fibers and with picrosirius red with polarization to observe collagen. Immunohistochemical analysis was done with tubulin to observe the nerves. Images were captured with a BX51 microscope and DP70 camera (Olympus®). Stereological analysis was done with Image-Pro and ImageJ (MediaCybernetics®) using a grid to determine volumetric density. Means were statistically compared with the Mann-Whitney test. All tests were 2-sided with p Prune belly syndrome fetuses were at 17 to 31 weeks of gestation and control fetuses were at 12 to 35 weeks of gestation. Quantitative analysis showed no difference in the volumetric density of smooth muscle cells in prune belly syndrome vs control gubernacula (mean 15.70% vs 19%, p = 0.2321). Collagen fiber analysis revealed a predominance of green areas in prune belly syndrome gubernacula, suggesting collagen type III, and a predominance of red areas in control gubernacula, suggesting collagen type I. Elastic fibers were significantly smaller in prune belly syndrome gubernacula than in control gubernacula (mean 14.06% vs 24.6%, p = 0.0190). Quantitative analysis demonstrated no difference in the volumetric density of nerves in prune belly syndrome or control gubernacula (mean 5.200% vs 3.158%, p = 0.2302). The gubernaculum in fetuses with prune belly syndrome had altered concentrations of collagen and elastic fibers. These structural alterations could be one of the factors involved in cryptorchidism in prune belly syndrome. Copyright © 2015. Published by Elsevier Inc.

  8. Postnatal depression in a community-based study of women with polycystic ovary syndrome.

    Science.gov (United States)

    March, Wendy A; Whitrow, Melissa J; Davies, Michael J; Fernandez, Renae C; Moore, Vivienne M

    2018-02-20

    Women with polycystic ovary syndrome are susceptible to depression and anxiety and so may also be at risk for postnatal depression. This study investigates whether women with polycystic ovary syndrome have an elevated risk of postnatal depression. Cross-sectional data for parous women (n = 566) were available from a birth cohort. Polycystic ovary syndrome was diagnosed using the Rotterdam criteria. Details of reproductive history, pregnancy, birth, and postnatal depression were obtained through structured interview. Comparisons were made between women with and without polycystic ovary syndrome using logistic regression analysis, including the investigation of interactions. A positive but statistically non-significant association was found between polycystic ovary syndrome and postnatal depression (odds ratio 1.6, 95% confidence interval 0.9-2.9). Compared with their counterparts, women with polycystic ovary syndrome were substantially more likely: to have difficulty conceiving (odds ratio 5.2, 95% confidence interval 2.9-9.4), to have conceived with medical assistance (odds ratio 11.6, 95% confidence interval 5.5-24.4), and to have pregnancy complications (gestational diabetes, pregnancy-induced hypertension, or preeclampsia; odds ratio 2.0, 95% confidence interval 1.1-3.5). Where women with polycystic ovary syndrome had a history of miscarriage or conceived with medical assistance, the combination interacted (p = 0.06 and p polycystic ovary syndrome may not have an excess risk of postnatal depression overall, those who had suffered a miscarriage or required medical assistance to conceive were at substantially elevated risk. Findings point to vulnerability inherent in polycystic ovary syndrome being amplified, either by stressful experiences on the pathway to pregnancy/childbirth or by specific fertility treatment regimens. © 2018 Nordic Federation of Societies of Obstetrics and Gynecology.

  9. Dietary patterns of Korean adults and the prevalence of metabolic syndrome: a cross-sectional study.

    Science.gov (United States)

    Woo, Hae Dong; Shin, Aesun; Kim, Jeongseon

    2014-01-01

    The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants' dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the 'traditional' pattern, the 'meat' pattern, and the 'snack' pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00-2.15, p for trend = 0.016). A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10-4.21, p for trend = 0.005). The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults.

  10. Dietary patterns of Korean adults and the prevalence of metabolic syndrome: a cross-sectional study.

    Directory of Open Access Journals (Sweden)

    Hae Dong Woo

    Full Text Available The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants' dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the 'traditional' pattern, the 'meat' pattern, and the 'snack' pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00-2.15, p for trend = 0.016. A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10-4.21, p for trend = 0.005. The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults.

  11. Risk of the Metabolic Syndrome in Sexual Minority Women: Results from the ESTHER Study.

    Science.gov (United States)

    Kinsky, Suzanne; Stall, Ron; Hawk, Mary; Markovic, Nina

    2016-08-01

    Compared to heterosexuals, sexual minority women (SMW) have higher rates of the metabolic syndrome risk factors (e.g., obesity, smoking, heavy drinking, and depression). Yet, no published research has examined whether SMW have higher rates of the metabolic syndrome. The aim of this study is to describe the prevalence of the metabolic syndrome and its individual factors in a sample of heterosexuals and SMW, and identify whether SMW are at greater risk of having the metabolic syndrome. Data are from the Epidemiologic STudy of HEalth Risk in Women (ESTHER), a cross-sectional convenience sample of 479 SMW and 400 heterosexual women from Pittsburgh, Pennsylvania. Participants provided self-report questionnaire data, clinical data, and blood work. Compared to heterosexuals, SMW had higher mean waist circumference, fasting glucose, and systolic and diastolic blood pressure. Nearly one-quarter (24.3%) of SMW had the metabolic syndrome compared to 15.6% of heterosexual women (p = 0.002). After controlling for demographic and risk factors, SMW had a 44% higher risk of having the metabolic syndrome than heterosexuals (p = 0.031). To our knowledge, this is the first study to identify this health disparity in SMW. Future studies should explore differential risk of mortality and metabolic health between SMW and heterosexuals.

  12. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  13. Handwriting Tics in Tourette's Syndrome: A Single Center Study.

    Science.gov (United States)

    Zanaboni Dina, Carlotta; Bona, Alberto R; Zekaj, Edvin; Servello, Domenico; Porta, Mauro

    2016-01-01

    Tourette's syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic, beginning in childhood or in adolescence. Handwriting is one of the most impaired school activities for TS patients because of the presence of tics that hamper learning processes. In this paper, we present a case of handwriting tics in a TS patient highlighting the main features.

  14. Comparative study of dental anomalies assessed with panoramic radiographs of Down syndrome and non-Down syndrome patients.

    Science.gov (United States)

    Mayoral-Trias, M A; Llopis-Perez, J; Puigdollers Pérez, A

    2016-03-01

    The aim of this study was to compare the prevalence of dental anomalies from panoramic radiographs of age-matched individuals with and without Down Syndrome (DS). This is a retrospective cross-sectional study. A group of 41 patients (19 female and 22 male) with Down Syndrome (DS), mean age 10.6 ± 1.4 and a control group of 42 non- DS patients (26 female and 16 male), mean age 11.1 ± 1.3 were studied. This study examined the medical history and a panoramic radiograph of each patient. The dental anomalies studied were agenesis of permanent teeth (except third molars), size and shape maxillary lateral anomalies and maxillary canine eruption path anomalies. The groups were compared using Mann-Whitney and Wilcoxon non-parametric tests (panomalies of maxillary lateral incisors, as well as for canine eruption anomalies (pdental anomalies were present in the DS group than in the control group, which implied that DS patients need periodical dental and orthodontic supervision so as to prevent or control subsequent oral problems.

  15. Communication in deafblind adults with Usher syndrome: retrospective observational study.

    Science.gov (United States)

    Figueiredo, Marília Zannon de Andrade; Chiari, Brasilia Maria; Goulart, Bárbara Niegia Garcia de

    2013-01-01

    To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness. Report of a series of cases conducted from semi-structured interviews with questions relating to the functionality of communication, with Usher syndrome patients attended in a specialized clinic in a university service, in the year 2007. The sample consisted of 11 deafblind subjects, with Usher syndrome, aged between 20 and 57 years (mean age 43 years and SD=12.27), of which 7 (63.6%) were female. The responses were analyzed by qualitative-quantitative technique of the Discurso do Sujeito Coletivo (DSC). All participants reported that visual and auditory symptoms began in childhood. Of the 11 interviewed, 6 reported that the disease has negatively affected their daily activities, 6 experienced difficulty at work, and 2 at leisure. Four reported that there was a change in family relationships, and 5 reported no change in the interaction with family and friends. In discourse analysis, almost 30% of respondents reported to use alternative forms of communication, 40% said move alone if the way is known before. Only 1 of 11 participants said they did not ask for help when needed. Individuals diagnosed with Usher syndrome face challenging situations in daily activities, personal relationships, at work and at play. Alternative forms of communication are often used when verbal communication is not possible. The majority of respondents have independence of locomotion, or seeking ways to achieve it.

  16. Association between serum CA 19-9 and metabolic syndrome: A cross-sectional study.

    Science.gov (United States)

    Du, Rui; Cheng, Di; Lin, Lin; Sun, Jichao; Peng, Kui; Xu, Yu; Xu, Min; Chen, Yuhong; Bi, Yufang; Wang, Weiqing; Lu, Jieli; Ning, Guang

    2017-11-01

    Increasing evidence suggests that serum CA 19-9 is associated with abnormal glucose metabolism. However, data on the association between CA 19-9 and metabolic syndrome is limited. The aim of the present study was to investigate the association between serum CA 19-9 and metabolic syndrome. A cross-sectional study was conducted on 3641 participants aged ≥40 years from the Songnan Community, Baoshan District in Shanghai, China. Logistic regression analysis was used to evaluate the association between serum CA 19-9 and metabolic syndrome. Multivariate logistic regression analysis showed that compared with participants in the first tertile of serum CA 19-9, those in the second and third tertiles had increased odds ratios (OR) for prevalent metabolic syndrome (multivariate adjusted OR 1.46 [95% confidence interval {CI} 1.11-1.92] and 1.51 [95% CI 1.14-1.98]; P trend  = 0.005). In addition, participants with elevated serum CA 19-9 (≥37 U/mL) had an increased risk of prevalent metabolic syndrome compared with those with serum CA 19-9 metabolic syndrome. In order to confirm this association and identify potential mechanisms, prospective cohort and mechanic studies should be performed. © 2017 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  17. A study on the carotid artery ultrasonography for the metabolic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kong, Hye Jung; Cho, Pyong Kon [Dept. of Radiological Science, Catholic University of Daegu, Daegu (Korea, Republic of); Kang, Young Han [Dept. of Radiology, Catholic University Hospital of Daegu, Daegu (Korea, Republic of)

    2013-09-15

    The primary goal of this study was to ascertain the primary factors to the affect for the carotid artery intima-media thickness (IMT), the prevalence of metabolic syndrome and other risks can possibly influence the carotid artery IMT. All patients data (total specimens: 289, male: 197, female: 92) including the carotid artery ultrasonography examination. The all data were analyzed by the use of SPSS software, version 21.0 (SPSS, Chicago, IL USA), with the descriptive statistics method. The Results of this study was found to be highly increased in the males than the females. The prevalence of metabolic syndrome in all of the participants was 30.5 percentages. The carotid artery IMT in the subjects with metabolic syndrome was significantly high in both genders, compared to the rest, who were without metabolic syndrome. The Pearsons correlation coefficient of metabolic syndrome and CIMT was 0.378(p<0.01). In conclusions, the present study also supports the association between the carotid artery IMT and the metabolic syndromes with cardiovascular risk factors. Usage of B-mode ultrasonography to measure the carotid artery IMT was found to be highly effective in the current analysis.

  18. A study on the carotid artery ultrasonography for the metabolic syndrome

    International Nuclear Information System (INIS)

    Kong, Hye Jung; Cho, Pyong Kon; Kang, Young Han

    2013-01-01

    The primary goal of this study was to ascertain the primary factors to the affect for the carotid artery intima-media thickness (IMT), the prevalence of metabolic syndrome and other risks can possibly influence the carotid artery IMT. All patients data (total specimens: 289, male: 197, female: 92) including the carotid artery ultrasonography examination. The all data were analyzed by the use of SPSS software, version 21.0 (SPSS, Chicago, IL USA), with the descriptive statistics method. The Results of this study was found to be highly increased in the males than the females. The prevalence of metabolic syndrome in all of the participants was 30.5 percentages. The carotid artery IMT in the subjects with metabolic syndrome was significantly high in both genders, compared to the rest, who were without metabolic syndrome. The Pearsons correlation coefficient of metabolic syndrome and CIMT was 0.378(p<0.01). In conclusions, the present study also supports the association between the carotid artery IMT and the metabolic syndromes with cardiovascular risk factors. Usage of B-mode ultrasonography to measure the carotid artery IMT was found to be highly effective in the current analysis

  19. Racial and ethnic differences in the prevalence of metabolic syndrome and its components of metabolic syndrome in women with polycystic ovary syndrome: a regional cross-sectional study.

    Science.gov (United States)

    Chan, Jessica L; Kar, Sujata; Vanky, Eszter; Morin-Papunen, Laure; Piltonen, Terhi; Puurunen, Johanna; Tapanainen, Juha S; Maciel, Gustavo Arantes Rosa; Hayashida, Sylvia Asaka Yamashita; Soares, Jose Maria; Baracat, Edmund Chada; Mellembakken, Jan Roar; Dokras, Anuja

    2017-08-01

    Polycystic ovary syndrome is a heterogeneous disorder and its presentation varies with race and ethnicity. Reproductive-age women with polycystic ovary syndrome are at increased risk of metabolic syndrome; however, it is not clear if prevalence of metabolic syndrome and clustering of its components differs based on race and ethnicity. Moreover, the majority of these women do not undergo routine screening for metabolic syndrome. We sought to compare the prevalence of metabolic syndrome and clustering of its components in women with polycystic ovary syndrome in the United States with women in India, Brazil, Finland, and Norway. This is a cross-sectional study performed in 1089 women with polycystic ovary syndrome from 1999 through 2016 in 5 outpatient clinics in the United States, India, Brazil, Finland, and Norway. Polycystic ovary syndrome was defined by the Rotterdam criteria. Main outcome measures were: metabolic syndrome prevalence, blood pressure, body mass index, fasting high-density lipoprotein cholesterol, fasting triglycerides, and fasting glucose. Data from all sites were reevaluated for appropriate application of diagnostic criteria for polycystic ovary syndrome, identification of polycystic ovary syndrome phenotype, and complete metabolic workup. The US White women with polycystic ovary syndrome were used as the referent group. Logistic regression models were used to evaluate associations between race and metabolic syndrome prevalence and its components and to adjust for potential confounders, including age and body mass index. The median age of the entire cohort was 28 years. Women from India had the highest mean Ferriman-Gallwey score for clinical hyperandrogenism (15.6 ± 6.5, P metabolic syndrome was highest in US Black women at 4.52 (95% confidence interval, 2.46-8.35) compared with US White women. When adjusted for age and body mass index, the prevalence was similar in the 2 groups. Significantly more Black women met body mass index and blood

  20. The prevalence of the metabolic syndrome in Portugal: the PORMETS study.

    Science.gov (United States)

    Raposo, Luís; Severo, Milton; Barros, Henrique; Santos, Ana Cristina

    2017-06-08

    The PORMETS study was designed to estimate the prevalence of metabolic syndrome and its determinants in the overall and administrative regions of the Portuguese mainland. A cross-sectional study of a representative sample of non-institutionalized Portuguese adults selected from primary health care centres lists including 1695 men and 2309 women was conducted from February 2007 to July 2009. A structured questionnaire was administered, collecting information on personal medical history and socio-demographic and behavioural characteristics. Anthropometrics, blood pressure, and venous blood samples were obtained. Metabolic syndrome was defined according to three operational definitions. The prevalence ratios and their respective 95% confidence intervals were calculated using binomial generalized linear regression, with the log link function. The prevalence rates of metabolic syndrome in this sample of Portuguese adults were 36.5%, 49.6%, and 43.1%, using the Adult Treatment Panel III, International Diabetes Federation and Joint Interim Statement definitions, respectively. The most prevalent feature of metabolic syndrome in this sample was high blood pressure (64.3%) and the lowest was high fasting glucose (24.9%). After adjustment for age and gender, significant differences were observed for the 18 districts of the Portugal mainland. Additionally, metabolic syndrome was significantly more frequent in non-urban areas than in urban ones (p = 0.001). The prevalence of metabolic syndrome was significantly higher in women (p˂0.001) and older participants (p˂0.001), as well as in those who reported being housewives (p = 0.010), retired (p = 0.046) or unemployed (p = 0.024). This study showed that metabolic syndrome is highly prevalent in the Portuguese adult population. Regional differences in the prevalence of this syndrome were observed, and this condition was more common in non-urban areas and less favoured socio-economic categories.

  1. Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.

    Science.gov (United States)

    Hope, Lena; Juul-Kristensen, Birgit; Løvaas, Helene; Løvvik, Camilla; Maeland, Silje

    2017-10-17

    To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Further, 140 gender- and age-matched healthy controls from statistics Norway representing the general population were sent the questionnaire for reference. Overall response rate was 30.4% (n = 76), with 44.5% (n = 49) in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type and 19.3% (n = 27) in controls. Subjective health complaints were significantly higher in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type - than in the controls (32.06 vs. 11.08; p Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type had low understanding of their illness and symptoms (understanding, mean: 3.93, SD 2.88), and reported to have moderate personal and treatment control over their illness. Adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported higher frequency and severity of subjective health complaints than the matched controls from the general adult population in Norway. Furthermore, Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported low understanding of their illness and associated symptoms, and moderate belief that their illness can be kept under control through self-management or treatment. This may indicate one of the reasons why prognosis for these patients is poor. Implications for rehabilitation Awareness of the complexity of the subjective health complaints and inquiry into illness perception could contribute with valuable information about these

  2. Refeeding syndrome as an iatrogenic cause of delirium: a retrospective pilot study.

    Science.gov (United States)

    Caplan, Jason P; Chang, Grace

    2010-01-01

    Refeeding syndrome describes a pattern of electrolyte disturbances occurring after the reintroduction of nutrition to the malnourished patient; it is often associated with delirium. The authors investigated whether hospitalized elderly patients who develop delirium are more likely to have laboratory findings consistent with refeeding syndrome. The authors conducted a retrospective chart review of 100 patients over age 60. Charts were examined for indications of delirium and refeeding syndrome. Significantly lower serum levels of magnesium and phosphate were found in patients with delirium. Delirium was not associated with any significant difference in levels of potassium. This study supports an association between delirium in elderly patients and electrolyte changes consistent with those seen in refeeding syndrome.

  3. A case study on successful ayurvedic management of a rare case of reiter's syndrome

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    Vaishali Kuchewar

    2017-01-01

    Full Text Available Reiter's syndrome is a clinical syndrome of arthritis, urethritis, conjunctivitis, and mucocutaneous lesions. Skin and mucosal involvement is observed in about 10% of the cases. A 34-year-old male was brought in severe condition. He had red colored foul smelling maculopapular skin lesions all over body, swollen and painful knee and shoulder joints. History revealed that he was suffering from Reiter's syndrome since 2003. He used to get admitted between the months of February and May every year due to aggravation of symptoms. Every time he was treated with systemic antibiotics, corticosteroids, immunosuppressants and non-steroidal anti-inflammatory drugs. He was successfully treated with external application and internal medication with tikta (bitter and kaṣāya (astringent drugs. He got significant relief in skin lesions as well as joint pain and his quality of life was markedly improved. This case study demonstrates that Reiter's syndrome can be well managed with Ayurvedic medicines.

  4. Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study

    DEFF Research Database (Denmark)

    Corey, Linda A; Pellock, John M; Kjeldsen, Marianne J

    2011-01-01

    not appear to play an important role in determining risk for frontal, occipital or temporal lobe epilepsy. These results suggest that, while genetic factors contribute to risk for major syndrome types, determined when possible, their contribution to risk for localization-related syndrome sub......Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868...... dizygotic pairs ascertained from population-based twin registries in Denmark, Norway and the United States. Syndrome type was determined based on medical record information and detailed clinical interviews and classified using the International Classification Systems for the Epilepsies and Epileptic...

  5. [Rectal mucosal prolapse syndrome: study of cases. Hospital Daniel A Carrion, Lima, Peru, 2010-2013].

    Science.gov (United States)

    Arévalo Suarez, Fernando; Cárdenas Vela, Irene; Rodríguez Rodríguez, Kriss; Pérez Narrea, María Teresa; Rodríguez Vargas, Omar; Montes Teves, Pedro; Monge Salgado, Eduardo

    2014-04-01

    to describe the clinical, endoscopic, and histological characteristics of rectal mucosal prolapse syndrome, formerly known as Solitary rectal ulcer, in patients from a general hospital. All patient diagnosed as rectal mucosal prolapse syndrome during 2010-2013 was selected; the medical history war reviewed and the histological slides were reevaluated by two pathologists. 17 cases of rectal mucosal prolapse syndrome were selected, the majority were males under 50 years, the most common clinical findings were rectal bleeding (82%) and constipation (65%), the endocopic findings were heterogeneous,: erythema (41%), ulcers (35%) and elevated lesions (29%). All cases presented fibromuscularhyperplasia in lamina propia and crypt distortion in the microscopic evaluation. In our study of rectal mucosal prolapse syndrome. The most common clinical findings were rectal bleeding and constipation. Erythematous mucosa was the most common endoscopic finding.

  6. Divorce in families of children with Down syndrome: a population-based study.

    Science.gov (United States)

    Urbano, Richard C; Hodapp, Robert M

    2007-07-01

    In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group, however, a higher proportion occurred within the first 2 years after the child's birth. Mothers and fathers of children with Down syndrome were much more likely to divorce if they were younger, had not graduated from high school, and if fathers were less educated and lived in a rural area. Few effects on divorce were noted for a variety of family structure variables.

  7. Prognosis of Acute Kidney Injury and Hepatorenal Syndrome in Patients with Cirrhosis: A Prospective Cohort Study

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    Andrew S. Allegretti

    2015-01-01

    Full Text Available Background/Aims. Acute kidney injury is a common problem for patients with cirrhosis and is associated with poor survival. We aimed to examine the association between type of acute kidney injury and 90-day mortality. Methods. Prospective cohort study at a major US liver transplant center. A nephrologist’s review of the urinary sediment was used in conjunction with the 2007 Ascites Club Criteria to stratify acute kidney injury into four groups: prerenal azotemia, hepatorenal syndrome, acute tubular necrosis, or other. Results. 120 participants with cirrhosis and acute kidney injury were analyzed. Ninety-day mortality was 14/40 (35% with prerenal azotemia, 20/35 (57% with hepatorenal syndrome, 21/36 (58% with acute tubular necrosis, and 1/9 (11% with other (p=0.04 overall. Mortality was the same in hepatorenal syndrome compared to acute tubular necrosis (p=0.99. Mortality was lower in prerenal azotemia compared to hepatorenal syndrome (p=0.05 and acute tubular necrosis (p=0.04. Ten participants (22% were reclassified from hepatorenal syndrome to acute tubular necrosis because of granular casts on urinary sediment. Conclusions. Hepatorenal syndrome and acute tubular necrosis result in similar 90-day mortality. Review of urinary sediment may add important diagnostic information to this population. Multicenter studies are needed to validate these findings and better guide management.

  8. Genotype by energy expenditure interaction with metabolic syndrome traits: the Portuguese healthy family study.

    Science.gov (United States)

    Santos, Daniel M V; Katzmarzyk, Peter T; Diego, Vincent P; Souza, Michele C; Chaves, Raquel N; Blangero, John; Maia, José A R

    2013-01-01

    Moderate-to-high levels of physical activity are established as preventive factors in metabolic syndrome development. However, there is variability in the phenotypic expression of metabolic syndrome under distinct physical activity conditions. In the present study we applied a Genotype X Environment interaction method to examine the presence of GxEE interaction in the phenotypic expression of metabolic syndrome. A total of 958 subjects, from 294 families of The Portuguese Healthy Family study, were included in the analysis. Total daily energy expenditure was assessed using a 3 day physical activity diary. Six metabolic syndrome related traits, including waist circumference, systolic blood pressure, glucose, HDL cholesterol, total cholesterol and triglycerides, were measured and adjusted for age and sex. GxEE examination was performed on SOLAR 4.3.1. All metabolic syndrome indicators were significantly heritable. The GxEE interaction model fitted the data better than the polygenic model (pmetabolic syndrome traits expression is significantly influenced by the interaction established between total daily energy expenditure and genotypes. Physical activity may be considered an environmental variable that promotes metabolic differences between individuals that are distinctively active.

  9. Genotype by energy expenditure interaction with metabolic syndrome traits: the Portuguese healthy family study.

    Directory of Open Access Journals (Sweden)

    Daniel M V Santos

    Full Text Available Moderate-to-high levels of physical activity are established as preventive factors in metabolic syndrome development. However, there is variability in the phenotypic expression of metabolic syndrome under distinct physical activity conditions. In the present study we applied a Genotype X Environment interaction method to examine the presence of GxEE interaction in the phenotypic expression of metabolic syndrome. A total of 958 subjects, from 294 families of The Portuguese Healthy Family study, were included in the analysis. Total daily energy expenditure was assessed using a 3 day physical activity diary. Six metabolic syndrome related traits, including waist circumference, systolic blood pressure, glucose, HDL cholesterol, total cholesterol and triglycerides, were measured and adjusted for age and sex. GxEE examination was performed on SOLAR 4.3.1. All metabolic syndrome indicators were significantly heritable. The GxEE interaction model fitted the data better than the polygenic model (p<0.001 for waist circumference, systolic blood pressure, glucose, total cholesterol and triglycerides. For waist circumference, glucose, total cholesterol and triglycerides, the significant GxEE interaction was due to rejection of the variance homogeneity hypothesis. For waist circumference and glucose, GxEE was also significant by the rejection of the genetic correlation hypothesis. The results showed that metabolic syndrome traits expression is significantly influenced by the interaction established between total daily energy expenditure and genotypes. Physical activity may be considered an environmental variable that promotes metabolic differences between individuals that are distinctively active.

  10. Perceptions about the sexuality of women with fibromyalgia syndrome: a phenomenological study.

    Science.gov (United States)

    Matarín Jiménez, Tamara María; Fernández-Sola, Cayetano; Hernández-Padilla, José Manuel; Correa Casado, Matías; Antequera Raynal, Laura Helena; Granero-Molina, José

    2017-07-01

    The aim of this study was to explore and understand the perceptions and experiences of women with fibromyalgia syndrome regarding their sexuality. Fibromyalgia syndrome is a chronic pathology, which compromises a woman's physical, mental and emotional health. Although concerns related to sexuality are commonly reported, research has tended to focus on the physical symptoms. An interpretive qualitative research methodology using Gadamer's philosophical hermeneutics was carried out. This qualitative study explores the sexuality of women with fibromyalgia syndrome. A focus group and semi-structured interviews were conducted with 13 women with fibromyalgia syndrome. Data were collected between April - June 2014. Participants were recruited until findings reached saturation. Three themes define the perception of sexuality for these women: (i) Physical impact: don't touch, don't look; (ii) Sexuality and identity: fighting against their loss; (iii) Impact on the relationship: sexuality as a way of connecting the couple. Despite limitations, sexuality is important for the identity and quality of life of women with fibromyalgia syndrome. Together with the physical symptomology, guilt, fear and a lack of understanding compromise the coping process. Women need the support of their partner, their socio-family environment and health professionals. Nurses can aid the successful adjustment to sexual problems related to fibromyalgia syndrome. © 2017 John Wiley & Sons Ltd.

  11. Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

    Science.gov (United States)

    Amedro, Pascal; Tahhan, Nabil; Bertet, Helena; Jeandel, Claire; Guillaumont, Sophie; Mura, Thibault; Picot, Marie-Christine

    2017-08-28

    The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, pTurner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, pTurner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.

  12. Cardiac structure and function in Cushing's syndrome: a cardiac magnetic resonance imaging study.

    Science.gov (United States)

    Kamenický, Peter; Redheuil, Alban; Roux, Charles; Salenave, Sylvie; Kachenoura, Nadjia; Raissouni, Zainab; Macron, Laurent; Guignat, Laurence; Jublanc, Christel; Azarine, Arshid; Brailly, Sylvie; Young, Jacques; Mousseaux, Elie; Chanson, Philippe

    2014-11-01

    Patients with Cushing's syndrome have left ventricular (LV) hypertrophy and dysfunction on echocardiography, but echo-based measurements may have limited accuracy in obese patients. No data are available on right ventricular (RV) and left atrial (LA) size and function in these patients. The objective of the study was to evaluate LV, RV, and LA structure and function in patients with Cushing's syndrome by means of cardiac magnetic resonance, currently the reference modality in assessment of cardiac geometry and function. Eighteen patients with active Cushing's syndrome and 18 volunteers matched for age, sex, and body mass index were studied by cardiac magnetic resonance. The imaging was repeated in the patients 6 months (range 2-12 mo) after the treatment of hypercortisolism. Compared with controls, patients with Cushing's syndrome had lower LV, RV, and LA ejection fractions (P Cushing's syndrome is associated with subclinical biventricular and LA systolic dysfunctions that are reversible after treatment. Despite skeletal muscle atrophy, Cushing's syndrome patients have an increased LV mass, reversible upon correction of hypercortisolism.

  13. Sedentary bout durations and metabolic syndrome among working adults: a prospective cohort study.

    Science.gov (United States)

    Honda, Takanori; Chen, Sanmei; Yonemoto, Koji; Kishimoto, Hiro; Chen, Tao; Narazaki, Kenji; Haeuchi, Yuka; Kumagai, Shuzo

    2016-08-26

    This study aimed to examine the associations between time spent in prolonged and non-prolonged sedentary bouts and the development of metabolic syndrome. We used data from a prospective study of Japanese workers. Baseline examination was conducted between 2010 and 2011. A total of 430 office workers (58 women) aged 40-64 years without metabolic syndrome were followed up by annual health checkups until 2014. Metabolic syndrome was defined as having ≥ 3 out of 5 diagnostic criteria from the Joint Interim Statement 2009 definition. Sedentary time was assessed using a tri-axial accelerometer. Time spent in total, prolonged (accumulated ≥ 30 min) and non-prolonged sedentary bouts (accumulated metabolic syndrome. During a median follow-up of 3 years, 83 participants developed metabolic syndrome. After adjustment for age, sex, education, smoking, and family income, positive associations were observed between time spent in prolonged sedentary bouts and the development of metabolic syndrome. After additional adjustment for moderate-to-vigorous physical activity, those in the three highest quartiles of time spent in prolonged sedentary bouts showed higher risk of metabolic syndrome compared to the lowest quartile group, with adjusted hazard ratios (95 % confidence intervals) of 2.72 (1.30 - 5.73), 2.42 (1.11 - 5.50), and 2.85 (1.31 - 6.18), respectively. No associations were seen for time spent in total and non-prolonged sedentary bouts. Sedentary behavior accumulated in a prolonged manner was associated with an increased risk of metabolic syndrome. In devising public health recommendations for the prevention of metabolic disease, the avoidance of prolonged uninterrupted periods of sedentary behavior should be considered.

  14. Sedentary bout durations and metabolic syndrome among working adults: a prospective cohort study

    Directory of Open Access Journals (Sweden)

    Takanori Honda

    2016-08-01

    Full Text Available Abstract Background This study aimed to examine the associations between time spent in prolonged and non-prolonged sedentary bouts and the development of metabolic syndrome. Methods We used data from a prospective study of Japanese workers. Baseline examination was conducted between 2010 and 2011. A total of 430 office workers (58 women aged 40-64 years without metabolic syndrome were followed up by annual health checkups until 2014. Metabolic syndrome was defined as having ≥ 3 out of 5 diagnostic criteria from the Joint Interim Statement 2009 definition. Sedentary time was assessed using a tri-axial accelerometer. Time spent in total, prolonged (accumulated ≥ 30 min and non-prolonged sedentary bouts (accumulated < 30 min was calculated. Cox proportional hazards models were used to estimate the risk of developing metabolic syndrome. Results During a median follow-up of 3 years, 83 participants developed metabolic syndrome. After adjustment for age, sex, education, smoking, and family income, positive associations were observed between time spent in prolonged sedentary bouts and the development of metabolic syndrome. After additional adjustment for moderate-to-vigorous physical activity, those in the three highest quartiles of time spent in prolonged sedentary bouts showed higher risk of metabolic syndrome compared to the lowest quartile group, with adjusted hazard ratios (95 % confidence intervals of 2.72 (1.30 – 5.73, 2.42 (1.11 – 5.50, and 2.85 (1.31 – 6.18, respectively. No associations were seen for time spent in total and non-prolonged sedentary bouts. Conclusions Sedentary behavior accumulated in a prolonged manner was associated with an increased risk of metabolic syndrome. In devising public health recommendations for the prevention of metabolic disease, the avoidance of prolonged uninterrupted periods of sedentary behavior should be considered.

  15. Prevalence of Gulf war veterans who believe they have Gulf war syndrome: questionnaire study

    Science.gov (United States)

    Chalder, T; Hotopf, M; Unwin, C; Hull, L; Ismail, K; David, A; Wessely, S

    2001-01-01

    Objectives To determine how many veterans in a random sample of British veterans who served in the Gulf war believe they have “Gulf war syndrome,” to examine factors associated with the presence of this belief, and to compare the health status of those who believe they have Gulf war syndrome with those who do not. Design Questionnaire study asking British Gulf war veterans whether they believe they have Gulf war syndrome and about symptoms, fatigue, psychological distress, post-traumatic stress, physical functioning, and their perception of health. Participants 2961 respondents to questionnaires sent out to a random sample of 4250 Gulf war veterans (69.7%). Main outcome measure The proportion of veterans who believe they have Gulf war syndrome. Results Overall, 17.3% (95% confidence interval 15.9 to 18.7) of the respondents believed they had Gulf war syndrome. The belief was associated with the veteran having poor health, not serving in the army when responding to the questionnaire, and having received a high number of vaccinations before deployment to the Gulf. The strongest association was knowing another person who also thought they had Gulf war syndrome. Conclusions Substantial numbers of British Gulf war veterans believe they have Gulf war syndrome, which is associated with psychological distress, a high number of symptoms, and some reduction in activity levels. A combination of biological, psychological, and sociological factors are associated with the belief, and these factors should be addressed in clinical practice. What is already known on this topicThe term Gulf war syndrome has been used to describe illnesses and symptoms experienced by veterans of the 1991 Gulf warConcerns exist over the validity of Gulf war syndrome as a unique entityWhat this study adds17% of Gulf war veterans believe they have Gulf war syndromeHolding the belief is associated with worse health outcomesKnowing someone else who believes they have Gulf war syndrome and receiving

  16. Couples' experiences of interacting with outside others in chronic fatigue syndrome: a qualitative study.

    Science.gov (United States)

    Brooks, Joanna; King, Nigel; Wearden, Alison

    2014-03-01

    Social isolation and stigma are frequently reported by patients with chronic fatigue syndrome/myalgic encephalomyelitis and relationships in the home environment with those close to the patients (their 'significant others') may thus be particularly important. Rather little attention has yet been paid to the beliefs and experiences of 'significant others' themselves in this context. This study sought to explore in-depth the beliefs and experiences of both patients and 'significant others' in relation to chronic fatigue syndrome/myalgic encephalomyelitis. In-depth interviews using a semi-structured interview schedule designed around the core constructs of the Common-Sense Model of self-regulation were conducted with two patients with chronic fatigue syndrome/myalgic encephalomyelitis and their spouses. Interpretative Phenomenological Analysis was used to analyse interview data. Experiences of social interactions in relation to chronic fatigue syndrome/myalgic encephalomyelitis with others outside of the relationship dyad emerged as a key issue for all participants when reflecting on their experiences of living with the condition. These concerns are presented under two themes: interactions with healthcare professionals and interactions with the social world. It is evident that significant others play an important role in the lived experience of chronic fatigue syndrome/myalgic encephalomyelitis. For both patients and significant others, the wider social world and interactions with outside others may be important influences on dyadic coping in chronic fatigue syndrome/myalgic encephalomyelitis. Both future research and treatment interventions could usefully include a 'significant other' perspective.

  17. Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

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    Linde C. M. van Dongen

    2017-12-01

    Full Text Available KBG syndrome is a neurodevelopmental disorder (NDD caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD/ intellectual disability (ID and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18 were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17, by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome.

  18. Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

    Science.gov (United States)

    van Dongen, Linde C. M.; Wingbermühle, Ellen; Oomens, Wouter; Bos-Roubos, Anja G.; Ockeloen, Charlotte W.; Kleefstra, Tjitske; Egger, Jos I. M.

    2017-01-01

    KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome. PMID:29311865

  19. HOMA1-IR and HOMA2-IR indexes in identifying insulin resistance and metabolic syndrome: Brazilian Metabolic Syndrome Study (BRAMS).

    Science.gov (United States)

    Geloneze, Bruno; Vasques, Ana Carolina Junqueira; Stabe, Christiane França Camargo; Pareja, José Carlos; Rosado, Lina Enriqueta Frandsen Paez de Lima; Queiroz, Elaine Cristina de; Tambascia, Marcos Antonio

    2009-03-01

    To investigate cut-off values for HOMA1-IR and HOMA2-IR to identify insulin resistance (IR) and metabolic syndrome (MS), and to assess the association of the indexes with components of the MS. Nondiabetic subjects from the Brazilian Metabolic Syndrome Study were studied (n = 1,203, 18 to 78 years). The cut-off values for IR were determined from the 90th percentile in the healthy group (n = 297) and, for MS, a ROC curve was generated for the total sample. In the healthy group, HOMA-IR indexes were associated with central obesity, triglycerides and total cholesterol (p 2.7 and HOMA2-IR > 1.8; and, for MS were: HOMA1-IR > 2.3 (sensitivity: 76.8%; specificity: 66.7%) and HOMA2-IR > 1.4 (sensitivity: 79.2%; specificity: 61.2%). The cut-off values identified for HOMA1-IR and HOMA2-IR indexes have a clinical and epidemiological application for identifying IR and MS in Westernized admixtured multi-ethnic populations.

  20. Variations of Lipoprotein(a Levels in the Metabolic Syndrome: A Report from the Maracaibo City Metabolic Syndrome Prevalence Study

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    Valmore Bermúdez

    2013-01-01

    Full Text Available Background. Lipoprotein(a [Lp(a] is a known risk factor for cardiovascular disease, yet its influence on metabolic syndrome (MS is still controversial. The purpose of this study was to assess the impact generated by this diagnosis in serum Lp(a concentrations. Materials and Methods. A total of 1807 subjects of both genders (55.3% women and 44.7% men belonging to the Maracaibo City Metabolic Syndrome Prevalence Study were evaluated. Results were expressed as Mean ± SD, determining differences through Student’s t-test and One-Way ANOVA test. Multiple logistic regression models were utilized for analyzing factors associated with elevated serum Lp(a levels and MS. Total cholesterol and LDL-C were corrected according to Lp(a-Cholesterol when necessary. Results. No differences were found in Lp(a values between genders; P=0,292. The association between MS and the classification of Lp(a was statistically significant (χ2=28.33; P<0,0001, with greater levels in subjects with this diagnosis. In the univariate analysis, subjects with each of the separate diagnostic criteria showed higher serum Lp(a concentrations, except for hyperglycemia. Conclusions. Lp(a values exhibit important variations regarding MS and each of its components. Impaired fasting glucose appeared as a protecting factor against elevated Lp(a concentrations, whereas its association with LDL-C and hs-CRP suggests a potential pro-inflammatory role.

  1. Study on the correlation between KCNJ11 gene polymorphism and metabolic syndrome in the elderly.

    Science.gov (United States)

    Jiang, Fan; Liu, Ning; Chen, Xiao Zhuang; Han, Kun Yuan; Zhu, Cai Zhong

    2017-09-01

    The aim of the study was to examine the correlation between KCNJ11 gene polymorphism and metabolic syndrome in elderly patients. From January 2014 to January 2015, 54 elderly patients with metabolic syndrome were enrolled in this study as the observation group. During the same period, 46 healthy elderly individuals were enrolled in this study as the control group. KCNJ11 gene polymorphism (rs28502) was analyzed using polymerase chain reaction-restriction fragment length polymorphism. The expression levels of mRNA in different genotypes were detected using FQ-PCR. ELISA was used to evaluate the KCNJ11 protein expression in different genotypes. KCNJ11 gene polymorphism and metabolic syndrome was studied by measuring the blood pressure levels in patients with different genotypes. Three genotypes of KCNJ11 gene in rs28502 were CC, CT and TT. The CC, CT and TT genotype frequencies in healthy population were 8.5, 9.2 and 82.2%, respectively, while the genotype frequencies in patients with metabolic syndrome were 42.4, 49.8 and 7.8%, respectively. There were significant differences between groups (P≤0.05). However, the genotype frequencies of C/T in healthy individuals and metabolic syndrome patients were 35.3 and 38.3%, respectively. There were no significant differences between groups (P>0.05). FQ-PCR results showed that the KCNJ11 mRNA expression levels in the control and observation groups had no significant differences (P>0.05). However, the results obtained from ELISA analysis revealed that KCNJ11 protein expression level in the observation group was significantly higher than that in the control group (Pmetabolic syndrome in the elderly. Elderly patients with the CC and TT genotypes are more likely to develop metabolic syndrome.

  2. Counterfactual thinking in Tourette's syndrome: a study using three measures.

    Science.gov (United States)

    Zago, Stefano; Delli Ponti, Adriana; Mastroianni, Silvia; Solca, Federica; Tomasini, Emanuele; Poletti, Barbara; Inglese, Silvia; Sartori, Giuseppe; Porta, Mauro

    2014-01-01

    Pathophysiological evidence suggests an involvement of frontostriatal circuits in Tourette syndrome (TS) and cognitive abnormalities have been detected in tasks sensitive to cognitive deficits associated with prefrontal damage (verbal fluency, planning, attention shifting, working memory, cognitive flexibility, and social reasoning). A disorder in counterfactual thinking (CFT), a behavioural executive process linked to the prefrontal cortex functioning, has not been investigated in TS. CFT refers to the generation of a mental simulation of alternatives to past factual events, actions, and outcomes. It is a pervasive cognitive feature in everyday life and it is closely related to decision-making, planning, problem-solving, and experience-driven learning-cognitive processes that involve wide neuronal networks in which prefrontal lobes play a fundamental role. Clinical observations in patients with focal prefrontal lobe damage or with neurological and psychiatric diseases related to frontal lobe dysfunction (e.g., Parkinson's disease, Huntington's disease, and schizophrenia) show counterfactual thinking impairments. In this work, we evaluate the performance of CFT in a group of patients with Tourette's syndrome compared with a group of healthy participants. Overall results showed no statistical differences in counterfactual thinking between TS patients and controls in the three counterfactual measures proposed. The possible explanations of this unexpected result are discussed below.

  3. Long working hours and metabolic syndrome among Japanese men: a cross-sectional study

    Science.gov (United States)

    2012-01-01

    Background The link between long working hours and health has been extensively studied for decades. Despite global concern regarding metabolic syndrome, however, no studies to date have solely evaluated the relationship between long working hours and that syndrome. We therefore examined the association between long working hours and metabolic syndrome in a cross-sectional study. Methods Between May and October 2009, we collected data from annual health checkups and questionnaires from employees at a manufacturing company in Shizuoka, Japan. Questionnaires were returned by 1,601 workers (response rate: 96.2%; 1,314 men, 287 women). After exclusions, including women because of a lack of overtime work, the analysis was performed for 933 men. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) for metabolic syndrome. Further, we conducted a stratified analysis by age-group (working hours and metabolic syndrome after adjusting for age, occupation, shift work, smoking status, frequency of alcohol consumption, and cohabiting status. Compared with subjects who worked 7–8 h/day, multivariate ORs for metabolic syndrome were 1.66 (95% CI, 0.91–3.01), 1.48 (95% CI, 0.75–2.90), and 2.32 (95% CI, 1.04–5.16) for those working 8–9 h/day, 9–10 h/day, and >10 h/day, respectively. Similar patterns were obtained when we excluded shift workers from the analysis. In age-stratified analysis, the corresponding ORs among workers aged ≥40 years were 2.02 (95% CI, 1.04–3.90), 1.21 (95% CI, 0.53–2.77), and 3.14 (95% CI, 1.24–7.95). In contrast, no clear association was found among workers aged working hours for increased risk of metabolic syndrome among Japanese male workers. PMID:22651100

  4. Long working hours and metabolic syndrome among Japanese men: a cross-sectional study.

    Science.gov (United States)

    Kobayashi, Tomoko; Suzuki, Etsuji; Takao, Soshi; Doi, Hiroyuki

    2012-05-31

    The link between long working hours and health has been extensively studied for decades. Despite global concern regarding metabolic syndrome, however, no studies to date have solely evaluated the relationship between long working hours and that syndrome. We therefore examined the association between long working hours and metabolic syndrome in a cross-sectional study. Between May and October 2009, we collected data from annual health checkups and questionnaires from employees at a manufacturing company in Shizuoka, Japan. Questionnaires were returned by 1,601 workers (response rate: 96.2%; 1,314 men, 287 women). After exclusions, including women because of a lack of overtime work, the analysis was performed for 933 men. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) for metabolic syndrome. Further, we conducted a stratified analysis by age-group (working hours and metabolic syndrome after adjusting for age, occupation, shift work, smoking status, frequency of alcohol consumption, and cohabiting status. Compared with subjects who worked 7-8 h/day, multivariate ORs for metabolic syndrome were 1.66 (95% CI, 0.91-3.01), 1.48 (95% CI, 0.75-2.90), and 2.32 (95% CI, 1.04-5.16) for those working 8-9 h/day, 9-10 h/day, and >10 h/day, respectively. Similar patterns were obtained when we excluded shift workers from the analysis. In age-stratified analysis, the corresponding ORs among workers aged ≥ 40 years were 2.02 (95% CI, 1.04-3.90), 1.21 (95% CI, 0.53-2.77), and 3.14 (95% CI, 1.24-7.95). In contrast, no clear association was found among workers aged working hours for increased risk of metabolic syndrome among Japanese male workers.

  5. Study of the Association between H. pylori Infection and Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Nasrin Fouladi

    2012-04-01

    Full Text Available Background & Objectives: Coronary artery disease is the main cause of mortality in developing and industrial countries. Recently the involvement of infectious agents as a risk factor for Acute Coronary syndrome is drafted. So this study was designed to investigate the probable association between Acute Coronary syndrome and Helicobacter pylori infection.   Methods: This case-control study was carried out on 300 hospitalized patients with the diagnosis of Acute Coronary syndrome (UA and MI and 300 hospitalized patients without the history of coronary heart disease. Anti Helicobacter pylori Antibody level was determined by as an indicator of infection history. Using chi-square and t- test the results were analyzed in SPSS software.   Results: Results showed that 79 patients (26.3% in control group and 122 patients (40.6% in case group were seropositive and the difference was significant. Relationship between cronory diseases risk factors and levels of IgG was not significant. Also the results showed that the rate of hypertension in seropositive patients in case group was significantly upper than control group.   Conclusion: Regarding the findings of this study we can conclude that Helicobacter pylori infection probably is a risk factor for Acute Coronary Syndrome. Thus, further studies are needed to elucidate the association between Helicobacter pylori infection and Acute Coronary Syndrome.

  6. Aortic dimensions in girls and young women with turner syndrome: a magnetic resonance imaging study

    DEFF Research Database (Denmark)

    Cleemann, Line; Mortensen, Kristian H; Holm, Kirsten

    2010-01-01

    This study aimed to determine the dimensions of the thoracic aorta and the predictors of aortic dimensions in girls and young women with Turner syndrome (TS). A cross-sectional study was performed at a secondary care center. The study compared 41 TS patients with 50 healthy age-matched control...

  7. Prevalence and risk factors of moderate to severe obstructive sleep apnea syndrome in insomnia sufferers: a study on 1311 subjects.

    Science.gov (United States)

    Hein, Matthieu; Lanquart, Jean-Pol; Loas, Gwénolé; Hubain, Philippe; Linkowski, Paul

    2017-07-06

    Several studies have investigated the prevalence and risk factors of insomnia in subjects with obstructive sleep apnea syndrome. However, few studies have investigated the prevalence and risk factors for obstructive sleep apnea syndrome in insomnia sufferers. Thus, the aim of this study was to examine the prevalence and risk factors of moderate to severe obstructive sleep apnea syndrome in a large sample of insomnia sufferers. Data from 1311 insomnia sufferers who were recruited from the research database of the sleep laboratory of the Erasme Hospital were analysed. An apnea-hypopnea index of ≥15 events per hour was used as the cut-off score for moderate to severe obstructive sleep apnea syndrome. Logistic regression analyses were conducted to examine clinical and demographic risk factors of moderate to severe obstructive sleep apnea syndrome in insomnia sufferers. The prevalence of moderate to severe obstructive sleep apnea syndrome in our sample of insomnia sufferers was 13.88%. Multivariate logistic regression analysis revealed that male gender, snoring, excessive daytime sleepiness, lower maintenance insomnia complaint, presence of metabolic syndrome, age ≥ 50 & 30 kg/m 2 , and CRP >7 mg/L were significant risk factors of moderate to severe obstructive sleep apnea syndrome in insomnia sufferers. Moderate to severe obstructive sleep apnea syndrome is a common pathology in insomnia sufferers. The identification of these different risk factors advances a new perspective for more effective screening of moderate to severe obstructive sleep apnea syndrome in insomnia sufferers.

  8. Methodological issues in the study of intestinal microbiota in irritable bowel syndrome.

    Science.gov (United States)

    Taverniti, Valentina; Guglielmetti, Simone

    2014-07-21

    Irritable bowel syndrome (IBS) is an intestinal functional disorder with the highest prevalence in the industrialized world. The intestinal microbiota (IM) plays a role in the pathogenesis of IBS and is not merely a consequence of this disorder. Previous research efforts have not revealed unequivocal microbiological signatures of IBS, and the experimental results are contradictory. The experimental methodologies adopted to investigate the complex intestinal ecosystem drastically impact the quality and significance of the results. Therefore, to consider the methodological aspects of the research on IM in IBS, we reviewed 29 relevant original research articles identified through a PubMed search using three combinations of keywords: "irritable bowel syndrome + microflora", "irritable bowel syndrome + microbiota" and "irritable bowel syndrome + microbiome". For each study, we reviewed the quality and significance of the scientific evidence obtained with respect to the experimental method adopted. The data obtained from each study were compared with all considered publications to identify potential inconsistencies and explain contradictory results. The analytical revision of the studies referenced in the present review has contributed to the identification of microbial groups whose relative abundance significantly alters IBS, suggesting that these microbial groups could be IM signatures for this syndrome. The identification of microbial biomarkers in the IM can be advantageous for the development of new diagnostic tools and novel therapeutic strategies for the treatment of different subtypes of IBS.

  9. Managing Scoliosis in a Young Child with Rett Syndrome: A Case Study

    Directory of Open Access Journals (Sweden)

    Meir Lotan

    2005-01-01

    Full Text Available Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. So far, only surgical intervention has succeeded in reversing the development of scoliosis in Rett syndrome.The present study describes a new management approach implemented with a girl with Rett syndrome. The core of the management regime was intensive: asymmetrical activation of trunk muscles through equilibrium reactions. The X-rays accompanying the article (evaluated by four experienced orthopedic surgeons blinded to the intervention process suggested that the intervention was successful in reversing the progress of the scoliosis for the above-mentioned child. Discontinuation of treatment led to severe and rapid deterioration of the spinal curve.Due to the fact that this was a case study, generalization is limited, but we suggest further investigation and studies with this method.

  10. Risk of cardiovascular events in people prescribed glucocorticoids with iatrogenic Cushing’s syndrome: cohort study

    Science.gov (United States)

    Petersen, Irene; Nazareth, Irwin

    2012-01-01

    Objective To investigate whether there is an increased risk of cardiovascular events in people who exhibit iatrogenic Cushing’s syndrome during treatment with glucocorticoids. Design Cohort study. Setting 424 UK general practices contributing to The Health Improvement Network database. Participants People prescribed systemic glucocorticoids and with a diagnosis of iatrogenic Cushing’s syndrome (n=547) and two comparison groups: those prescribed glucocorticoids and with no diagnosis of iatrogenic Cushing’s syndrome (n=3231) and those not prescribed systemic glucocorticoids (n=3282). Main outcome measures Incidence of cardiovascular events within a year after diagnosis of iatrogenic Cushing’s syndrome or after a randomly selected date, and association between iatrogenic Cushing’s syndrome and risk of cardiovascular events. Results 417 cardiovascular events occurred in 341 patients. Taking into account only the first event by patient (coronary heart disease n=177, heart failure n=101, ischaemic stroke n=63), the incidence rates of cardiovascular events per 100 person years at risk were 15.1 (95% confidence interval 11.8 to 18.4) in those prescribed glucocorticoids and with a diagnosis of iatrogenic Cushing’s syndrome, 6.4 (5.5 to 7.3) in those prescribed glucocorticoids without a diagnosis of iatrogenic Cushing’s syndrome, and 4.1 (3.4 to 4.8) in those not prescribed glucocorticoids. In multivariate analyses adjusted for sex, age, intensity of glucocorticoid use, underlying disease, smoking status, and use of aspirin, diabetes drugs, antihypertensive drugs, lipid lowering drugs, or oral anticoagulant drugs, the relation between iatrogenic Cushing’s syndrome and cardiovascular events was strong (adjusted hazard ratios 2.27 (95% confidence interval 1.48 to 3.47) for coronary heart disease, 3.77 (2.41 to 5.90) for heart failure, and 2.23 (0.96 to 5.17) for ischaemic cerebrovascular events). The adjusted hazard ratio for any cardiovascular event was 4

  11. Risk of cardiovascular events in people prescribed glucocorticoids with iatrogenic Cushing's syndrome: cohort study.

    Science.gov (United States)

    Fardet, Laurence; Petersen, Irene; Nazareth, Irwin

    2012-07-30

    To investigate whether there is an increased risk of cardiovascular events in people who exhibit iatrogenic Cushing's syndrome during treatment with glucocorticoids. Cohort study. 424 UK general practices contributing to The Health Improvement Network database. People prescribed systemic glucocorticoids and with a diagnosis of iatrogenic Cushing's syndrome (n = 547) and two comparison groups: those prescribed glucocorticoids and with no diagnosis of iatrogenic Cushing's syndrome (n = 3231) and those not prescribed systemic glucocorticoids (n = 3282). Incidence of cardiovascular events within a year after diagnosis of iatrogenic Cushing's syndrome or after a randomly selected date, and association between iatrogenic Cushing's syndrome and risk of cardiovascular events. 417 cardiovascular events occurred in 341 patients. Taking into account only the first event by patient (coronary heart disease n = 177, heart failure n = 101, ischaemic stroke n = 63), the incidence rates of cardiovascular events per 100 person years at risk were 15.1 (95% confidence interval 11.8 to 18.4) in those prescribed glucocorticoids and with a diagnosis of iatrogenic Cushing's syndrome, 6.4 (5.5 to 7.3) in those prescribed glucocorticoids without a diagnosis of iatrogenic Cushing's syndrome, and 4.1 (3.4 to 4.8) in those not prescribed glucocorticoids. In multivariate analyses adjusted for sex, age, intensity of glucocorticoid use, underlying disease, smoking status, and use of aspirin, diabetes drugs, antihypertensive drugs, lipid lowering drugs, or oral anticoagulant drugs, the relation between iatrogenic Cushing's syndrome and cardiovascular events was strong (adjusted hazard ratios 2.27 (95% confidence interval 1.48 to 3.47) for coronary heart disease, 3.77 (2.41 to 5.90) for heart failure, and 2.23 (0.96 to 5.17) for ischaemic cerebrovascular events). The adjusted hazard ratio for any cardiovascular event was 4.16 (2.98 to 5.82) when the group prescribed glucocorticoids and with

  12. Critically Ill Patients With the Middle East Respiratory Syndrome: A Multicenter Retrospective Cohort Study.

    Science.gov (United States)

    Arabi, Yaseen M; Al-Omari, Awad; Mandourah, Yasser; Al-Hameed, Fahad; Sindi, Anees A; Alraddadi, Basem; Shalhoub, Sarah; Almotairi, Abdullah; Al Khatib, Kasim; Abdulmomen, Ahmed; Qushmaq, Ismael; Mady, Ahmed; Solaiman, Othman; Al-Aithan, Abdulsalam M; Al-Raddadi, Rajaa; Ragab, Ahmed; Al Mekhlafi, Ghaleb A; Al Harthy, Abdulrahman; Kharaba, Ayman; Ahmadi, Mashael Al; Sadat, Musharaf; Mutairi, Hanan Al; Qasim, Eman Al; Jose, Jesna; Nasim, Maliha; Al-Dawood, Abdulaziz; Merson, Laura; Fowler, Robert; Hayden, Frederick G; Balkhy, Hanan H

    2017-10-01

    To describe patient characteristics, clinical manifestations, disease course including viral replication patterns, and outcomes of critically ill patients with severe acute respiratory infection from the Middle East respiratory syndrome and to compare these features with patients with severe acute respiratory infection due to other etiologies. Retrospective cohort study. Patients admitted to ICUs in 14 Saudi Arabian hospitals. Critically ill patients with laboratory-confirmed Middle East respiratory syndrome severe acute respiratory infection (n = 330) admitted between September 2012 and October 2015 were compared to consecutive critically ill patients with community-acquired severe acute respiratory infection of non-Middle East respiratory syndrome etiology (non-Middle East respiratory syndrome severe acute respiratory infection) (n = 222). None. Although Middle East respiratory syndrome severe acute respiratory infection patients were younger than those with non-Middle East respiratory syndrome severe acute respiratory infection (median [quartile 1, quartile 3] 58 yr [44, 69] vs 70 [52, 78]; p < 0.001), clinical presentations and comorbidities overlapped substantially. Patients with Middle East respiratory syndrome severe acute respiratory infection had more severe hypoxemic respiratory failure (PaO2/FIO2: 106 [66, 160] vs 176 [104, 252]; p < 0.001) and more frequent nonrespiratory organ failure (nonrespiratory Sequential Organ Failure Assessment score: 6 [4, 9] vs 5 [3, 7]; p = 0.002), thus required more frequently invasive mechanical ventilation (85.2% vs 73.0%; p < 0.001), oxygen rescue therapies (extracorporeal membrane oxygenation 5.8% vs 0.9%; p = 0.003), vasopressor support (79.4% vs 55.0%; p < 0.001), and renal replacement therapy (48.8% vs 22.1%; p < 0.001). After adjustment for potential confounding factors, Middle East respiratory syndrome was independently associated with death compared to non-Middle East respiratory syndrome severe acute respiratory

  13. The prevalence of diagnosed tourette syndrome in Canada: A national population-based study.

    Science.gov (United States)

    Yang, Jaeun; Hirsch, Lauren; Martino, Davide; Jette, Nathalie; Roberts, Jodie; Pringsheim, Tamara

    2016-11-01

    The objective of this study was to examine: (1) the prevalence of diagnosed Tourette syndrome in Canada by sex in youth (aged 12-17) and adults and (2) socioeconomic factors in this population. The majority of epidemiological studies of tics have focused on children and youth, with few studies describing the prevalence of tics in adult populations. Canadian data on Tourette syndrome prevalence were derived from the Canadian Community Health Survey 2010 and 2011 cycles, a Statistics Canada population-based cross-sectional survey that collects information related to health status. We determined the prevalence of diagnosed Tourette syndrome and examined sociodemographic factors, including age, sex, education, income, employment, and birthplace. Overall, 122,884 Canadians participated in the surveys, with 122 participants diagnosed with Tourette syndrome. The prevalence of Tourette syndrome was higher in males in youth: 6.03 per 1000 (95% confidence interval: 3.24-8.81) in males versus 0.48 per 1,000 (95% confidence interval: 0.05-0.91) in females, with a prevalence risk ratio of 5.31 (95% confidence interval: 2.38-11.81). In adults, the prevalence of Tourette syndrome was 0.89 per 1,000 (95% confidence interval: 0.48-1.29) in males versus 0.44 (95% confidence interval: 0.16.0-0.71) in females, with a prevalence risk ratio of 1.93 (95% confidence interval: 1.21-3.08). After adjusting for age and sex, adults with Tourette syndrome had lower odds of receiving postsecondary education or being employed and higher odds of having income lower than the median and receiving governmental support. Data on the prevalence of Tourette syndrome in adults are scarce because most studies focus on children. Our data demonstrate a decreasing prevalence risk ratio for sex in adults compared to children. A diagnosis of Tourette syndrome is associated with lower education, income, and employment in adulthood. © 2016 International Parkinson and Movement Disorder Society. © 2016

  14. Phosphate homeostasis in Bartter syndrome: a case-control study.

    Science.gov (United States)

    Bettinelli, Alberto; Viganò, Cristina; Provero, Maria Cristina; Barretta, Francesco; Albisetti, Alessandra; Tedeschi, Silvana; Scicchitano, Barbara; Bianchetti, Mario G

    2014-11-01

    Bartter patients may be hypercalciuric. Additional abnormalities in the metabolism of calcium, phosphate, and calciotropic hormones have occasionally been reported. The metabolism of calcium, phosphate, and calciotropic hormones was investigated in 15 patients with Bartter syndrome and 15 healthy subjects. Compared to the controls, Bartter patients had significantly reduced plasma phosphate {mean [interquartile range]:1.29 [1.16-1.46] vs. 1.61 [1.54-1.67] mmol/L} and maximal tubular phosphate reabsorption (1.16 [1.00-1.35] vs. 1.41 [1.37-1.47] mmol/L) and significantly increased parathyroid hormone (PTH) level (6.1 [4.5-7.7] vs. 2.8 [2.2-4.4] pmol/L). However, patients and controls did not differ in blood calcium, 25-hydroxyvitamin D, alkaline phosphatase, and osteocalcin levels. In patients, an inverse correlation (P Bartter patients.

  15. Effect of colchicine on polycystic ovary syndrome: an experimental study.

    Science.gov (United States)

    Gozukara, Ilay Ozturk; Pınar, Neslihan; Ozcan, Oğuzhan; Ozgur, Tumay; Dokuyucu, Recep; Kurt, Raziye Keskin; Kucur, Suna Kabil; Aksoy, Ayşe Nur

    2016-03-01

    To investigate whether there is any therapeutic effect of colchicine on a rat model of polycystic ovary syndrome (PCOS). Twenty-two Wistar-Albino rats were randomly assigned into four with 8 rats in each group: control group; PCOS only group; PCOS-metformin group and PCOS-colchicine group. PCOS was induced by gavage with letrozole once daily at the concentration of 1 mg/kg orally with 21 consecutive days. After PCOS model assessment, PCOS-metformin group was received metformin orally with 500 mg/kg and PCOS-colchicine group was received colchicine orally with 1 mg/kg for the 35 day. Histopathology of ovaries, circulating estrone (E1), estradiol (E2), total testosterone, androstenedione and c-reactive protein (CRP) levels were evaluated. cystic and atretic follicle number was significantly decreased, but CRP and hormone parameters were not significantly changed with colchicine treatment. Colchicine has provided histopathological improvement compared with metformin in PCOS rat model.

  16. Prader-Willi Syndrome: A Case Study and Parent Perspective.

    Science.gov (United States)

    Glaspy, Erin; Foge, Julie

    2015-08-01

    Having a newborn diagnosed with a rare disorder is fraught with many challenges and opportunities for families and healthcare providers alike. This article presents one mother's journey through the daily blessings and challenges of having a child with a rare disorder. Storytelling and reflection interwoven with a case presentation. Prader-Willi syndrome can be a diagnosis that is missed in the immediate postpartum period. Careful assessment and evaluation of the infant is needed. Attention to detail will support an accurate and timely diagnosis. Those involved in the care of infants in the neonatal intensive care unit with special needs owing to a rare disorder must guide families through the difficult process of establishing a diagnosis and coping with the short- and long-term implications of that diagnosis. Research about the needs of families with children with rare diseases is sorely needed. Finding strategies to best support these families is an area of great need.

  17. LESSONS FROM 50 YEARS OF STUDY OF LARON SYNDROME.

    Science.gov (United States)

    Laron, Zvi

    2015-12-01

    To describe the characteristics of untreated and recombinant insulin-like growth factor 1 (IGF-1)- treated patients with the Laron syndrome (LS) as seen in our clinic over a period of over 50 years. In 1966, we reported a new disease, characterized by dwarfism (-4 to -10 height standard deviation score) typical facial features, small head circumference, obesity, and small genitalia. They resembled congenital growth hormone (GH) deficiency but had high levels of serum human GH and low IGF-1. Since then, our cohort grew to 69 patients, consisting of Jews of oriental origin, Muslins, and Christians originating from the Middle East or Mediterranean area. Many belong to consanguineous families. Molecular genetic investigations revealed that these patients had deletions or mutations in the GH receptor gene, but only individuals homozygous for this defect express the disease, coined "Laron syndrome" (LS; Online Mendelian Inheritance in Man# 262500). During childhood, LS patients grow slowly, have a retarded bone age and sexual development, but reach full sexual development. The treatment of LS is recombinant IGF-1, which stimulates the linear growth but increases the degree of obesity. Adult-age patients with congenital IGF-1 deficiency are protected from cancer but can develop insulin resistance, glucose intolerance, diabetes, and cardiovascular disease. Due to pathologic changes in the brain related to the type of molecular defect in the GH receptor, they vary in their intellectual capacity. A number of LS patients marry, and with help of pregestational genetic diagnosis, have healthy children. LS is a unique disease model presenting a dissociation between GH and IGF-1 activity.

  18. Quality of life in patients with depression, panic syndrome, other anxiety syndrome, alcoholism and chronic somatic diseases: a longitudinal study in Slovenian primary care patients.

    Science.gov (United States)

    Cerne, Anja; Rifel, Janez; Rotar-Pavlic, Danica; Svab, Igor; Selic, Polona; Kersnik, Janko

    2013-01-01

    To analyse the correlates between the quality of life and chronic diseases and socio-demographic characteristics of patients in family medicine with a special emphasis on depression, panic syndrome, other anxiety syndrome and alcoholism. In a longitudinal study, the data set of 516 family practice attendees recruited from 60 family practices was analysed. Depression, panic syndrome, other anxiety syndrome and alcoholism were diagnosed using appropriate diagnostic interviews. Quality of life was assessed using the SF-12 questionnaire, measuring a mental health score and a physical health score. Data about the number of chronic somatic diseases were obtained from the patients' medical records. Physical health score was negatively associated with higher age (β = -0.25, p chronic somatic diseases (β = -0.10, p chronic somatic diseases as they are associated with poorer quality of life.

  19. A Comparative Study of Educational Provision for Children with Neurogenetic Syndromes: Parent and Teacher Survey

    Science.gov (United States)

    Reilly, C.; Senior, J.; Murtagh, L.

    2015-01-01

    Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…

  20. Children with Steroid-resistant Nephrotic Syndrome: a Single-Center Study

    Directory of Open Access Journals (Sweden)

    Rahime Renda

    2016-01-01

    Full Text Available Background and Aim: Steroid-resistant nephrotic syndrome (SRNS accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Methods: This retrospective study included 31 patients diagnosed as primary SRNS. Age at first episode, gender, parental consanguinity, and familial history of nephrotic syndrome were recorded. Demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis were analyzed, as were the number of and treatment of relapses, extra-renal manifestations, and complications of disease and treatment.Results: Mean age at first episode of nephrotic syndrome was 4,1±2,9 years. At the end of the first immunosuppressive treatment cycle, 14 (51.8% patients achieved complete remission, 4 (14.8% patients achieved partial remission, and 9 patients (33.3% did not achieve remission. Analysis of the final status of the patients showed that 16 patients (51.6% developed remission, 5 patients (16% continued to have nephrotic range proteinuria and 10 patients (32% developed chronic renal failure (CRF.Conclusion: The treatment of SRNS remains controversial. Early genetic testing can help the inevitable immunosuppressive treatments which may not be effective and have several side effects. Calcineurin inhibitors and mycophenolate mofetil are known to be effective immunosuppressive drugs for treating steroid resistant nephrotic syndrome .

  1. Burnout syndrome as an occupational disease in the European Union: an exploratory study.

    Science.gov (United States)

    Lastovkova, Andrea; Carder, Melanie; Rasmussen, Hans Martin; Sjoberg, Lars; Groene, Gerda J de; Sauni, Riitta; Vevoda, Jiri; Vevodova, Sarka; Lasfargues, Gerard; Svartengren, Magnus; Varga, Marek; Colosio, Claudio; Pelclova, Daniela

    2018-04-07

    The risk of psychological disorders influencing the health of workers increases in accordance with growing requirements on employees across various professions. This study aimed to compare approaches to the burnout syndrome in European countries. A questionnaire focusing on stress-related occupational diseases was distributed to national experts of 28 European Union countries. A total of 23 countries responded. In 9 countries (Denmark, Estonia, France, Hungary, Latvia, Netherlands, Portugal, Slovakia and Sweden) burnout syndrome may be acknowledged as an occupational disease. Latvia has burnout syndrome explicitly included on the List of ODs. Compensation for burnout syndrome has been awarded in Denmark, France, Latvia, Portugal and Sweden. Only in 39% of the countries a possibility to acknowledge burnout syndrome as an occupational disease exists, with most of compensated cases only occurring in recent years. New systems to collect data on suspected cases have been developed reflecting the growing recognition of the impact of the psychosocial work environment. In agreement with the EU legislation, all EU countries in the study have an action plan to prevent stress at the workplace.

  2. Modified metabolic syndrome and second cancers in women: A case control study.

    Science.gov (United States)

    Ortiz-Mendoza, Carlos-Manuel; Pérez-Chávez, Ernesto; Fuente-Vera, Tania-Angélica De-la

    2016-01-01

    According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. To find out the implication of the modified metabolic syndrome in women with second cancers. This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases) and age-matched women with only one neoplasm (controls). The analysis comprised: Tumor (s), anthropometric features, and body mass index (BMI); moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 ) was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1). Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

  3. Modified metabolic syndrome and second cancers in women: A case control study

    Directory of Open Access Journals (Sweden)

    Carlos-Manuel Ortiz-Mendoza

    2016-01-01

    Full Text Available Background: According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. Aim: To find out the implication of the modified metabolic syndrome in women with second cancers. Materials and Methods: This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases and age-matched women with only one neoplasm (controls. The analysis comprised: Tumor (s, anthropometric features, and body mass index (BMI; moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. Results: The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1. Conclusion: Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

  4. EFFECT OF DANCE EXERCISE ON COGNITIVE FUNCTION IN ELDERLY PATIENTS WITH METABOLIC SYNDROME: A PILOT STUDY

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    Sang-Wook Song

    2011-12-01

    Full Text Available Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group. The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants using the Korean version of the Consortium to Establish a Registry for Alzheimer's disease (CERAD-K. Repeated-measures ANCOVA was used to assess the effect of dance exercise on cognitive function and cardiometabolic risk factors. Compared with the control group, the exercise group significantly improved in verbal fluency (p = 0.048, word list delayed recall (p = 0.038, word list recognition (p = 0.007, and total CERAD-K score (p = 0.037. However, no significance difference was found in body mass index, blood pressure, waist circumference, fasting plasma glucose, triglyceride, and HDL cholesterol between groups over the 6-month period. In the present study, six months of dance exercise improved cognitive function in older adults with metabolic syndrome. Thus, dance exercise may reduce the risk for cognitive disorders in elderly people with metabolic syndrome.

  5. Prevalence of metabolic syndrome among Filipino-Americans: a cross-sectional study.

    Science.gov (United States)

    Dalusung-Angosta, Alona; Gutierrez, Antonio

    2013-11-01

    The aims of this study are a) to examine the prevalence of metabolic syndrome among Filipino-Americans, b) to compare the rate of metabolic syndrome between Filipino men and women, and c) to examine the prevalence of central adiposity. Filipino-Americans are the second largest Asian subgroup in the United States and their leading cause of death is coronary heart disease (CHD). This study utilized a descriptive correlational, cross-sectional design that included a convenience sample of 300 Filipino-Americans residing in Southern Nevada. Survey questionnaires were used to collect the sample's demographic data and presence of CHD risk factors. Waist circumference measurements were used to examine central adiposity. Metabolic syndrome and central adiposity are highly prevalent among Filipino-Americans residing in Southern Nevada. More men than women had the syndrome, but the rate of central adiposity was significantly higher in women than in men. Intensive lifestyle modifications and treatment are indicated to decrease the prevalence of metabolic syndrome and the risk of heart disease in this group. Published by Elsevier Inc.

  6. The diagnosis and lived experience of polycystic ovary syndrome: A qualitative study.

    Science.gov (United States)

    Tomlinson, Julie; Pinkney, Jonathan; Adams, Linda; Stenhouse, Elizabeth; Bendall, Alison; Corrigan, Oonagh; Letherby, Gayle

    2017-10-01

    To explore the impact of the diagnosis of polycystic ovary syndrome on health/ill health identity, how women experience this diagnosis and their health beliefs. Polycystic ovary syndrome is a common and heterogeneous condition, giving rise to a wide range of different health concerns. Previous research on polycystic ovary syndrome has been dominated by the medical perspective and less is known about the experiences and needs of women. A qualitative study of 32 premenopausal adult women with polycystic ovary syndrome (diagnosis confirmed by Rotterdam criteria), aged between 18 and 45 years, recruited from a primary and secondary care setting. Thematic analysis of transcripts from 11 focus groups conducted between 2013-2015. Women identified a range of concerns affecting personal and reproductive identity, health knowledge and beliefs: (1) delays and barriers to diagnosis; (2) general lack of empathy by the medical profession; (3) difficulty in accessing specialist referral; (4) lack of information from professionals; (5) inconsistent and sometimes unsatisfactory experiences with medications; (6) insufficient help and advice regarding in/fertility; (7) relative lack of awareness or concern about longer term risks such as diabetes; and (8) significant discrepancies between the beliefs of women with polycystic ovary syndrome and how they experienced the attitudes of healthcare professionals. There appears to be a divergence between women's experience and attitudes of healthcare professionals. The diagnosis, support and lived experience of women with polycystic ovary syndrome could be enhanced by better professional recognition of these concerns, improved knowledge and communication about polycystic ovary syndrome and better access to support and specialist advice. © 2017 John Wiley & Sons Ltd.

  7. Establishing post mortem criteria for the metabolic syndrome: an autopsy based cross-sectional study.

    Science.gov (United States)

    Christensen, Martin Roest; Bugge, Anne; Malik, Mariam Elmegaard; Thomsen, Jørgen Lange; Lynnerup, Niels; Rungby, Jørgen; Banner, Jytte

    2018-01-01

    Individuals who suffer from mental illness are more prone to obesity and related co-morbidities, including the metabolic syndrome. Autopsies provide an outstanding platform for the macroscopic, microscopic and molecular-biological investigation of diseases. Autopsy-based findings may assist in the investigation of the metabolic syndrome. To utilise the vast information that an autopsy encompasses to elucidate the pathophysiology behind the syndrome further, we aimed to both develop and evaluate a method for the post mortem definition of the metabolic syndrome. Based on the nationwide Danish SURVIVE study of deceased mentally ill, we established a set of post mortem criteria for each of the harmonized criteria of the metabolic syndrome. We based the post mortem (PM) evaluation on information from the police reports and the data collected at autopsy, such as anthropometric measurements and biochemical and toxicological analyses (PM information). We compared our PM evaluation with the data from the Danish health registries [ante mortem (AM) information, considered the gold standard] from each individual. The study included 443 deceased individuals (272 male and 171 female) with a mean age of 50.4 (± 15.5) years and a median (interquartile range) post mortem interval of 114 (84-156) hours. We found no significant difference when defining the metabolic syndrome from the PM information in comparison to the AM information ( P  = 0.175). The PM evaluation yielded a high specificity (0.93) and a moderate sensitivity (0.63) with a moderate level of agreement compared to the AM evaluation (Cohen's κ = 0.51). Neither age nor post mortem interval affected the final results. Our model of a PM definition of the metabolic syndrome proved reliable when compared to the AM information. We believe that an appropriate estimate of the prevalence of the metabolic syndrome can be established post mortem. However, while neither the PM nor the AM information is exhaustive in

  8. Can Asperger syndrome be distinguished from autism? An anatomic likelihood meta-analysis of MRI studies.

    Science.gov (United States)

    Yu, Kevin K; Cheung, Charlton; Chua, Siew E; McAlonan, Gráinne M

    2011-11-01

    The question of whether Asperger syndrome can be distinguished from autism has attracted much debate and may even incur delay in diagnosis and intervention. Accordingly, there has been a proposal for Asperger syndrome to be subsumed under autism in the forthcoming Diagnostic and Statistical Manual of Mental Disorders, fifth edition, in 2013. One approach to resolve this question has been to adopt the criterion of absence of clinically significant language or cognitive delay--essentially, the "absence of language delay." To our knowledge, this is the first meta-analysis of magnetic resonance imaging (MRI) studies of people with autism to compare absence with presence of language delay. It capitalizes on the voxel-based morphometry (VBM) approach to systematically explore the whole brain for anatomic correlates of delay and no delay in language acquisition in people with autism spectrum disorders. We conducted a systematic search for VBM MRI studies of grey matter volume in people with autism. Studies with a majority (at least 70%) of participants with autism diagnoses and a history of language delay were assigned to the autism group (n = 151, control n = 190). Those with a majority (at least 70%) of individuals with autism diagnoses and no language delay were assigned to the Asperger syndrome group (n = 149, control n = 214). We entered study coordinates into anatomic likelihood estimation meta-analysis software with sampling size weighting to compare grey matter summary maps driven by Asperger syndrome or autism. The summary autism grey matter map showed lower volumes in the cerebellum, right uncus, dorsal hippocampus and middle temporal gyrus compared with controls; grey matter volumes were greater in the bilateral caudate, prefrontal lobe and ventral temporal lobe. The summary Asperger syndrome map indicated lower grey matter volumes in the bilateral amygdala/hippocampal gyrus and prefrontal lobe, left occipital gyrus, right cerebellum, putamen and precuneus

  9. Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome.

    Science.gov (United States)

    Laszkowska, Monika; Roy, Abhik; Lebwohl, Benjamin; Green, Peter H R; Sundelin, Heléne E K; Ludvigsson, Jonas F

    2016-09-01

    Patients with celiac disease (CD) often have articular complaints, and small prior studies suggest an association with Ehlers-Danlos syndrome (EDS)/joint hypermobility syndrome (JHS). This study examines the risks of EDS/JHS in patients with CD. This cohort study compared all individuals in Sweden diagnosed with CD based on small intestinal biopsy between 1969-2008 (n=28,631) to 139,832 matched reference individuals, and to a second reference group undergoing biopsy without having CD (n=16,104). Rates of EDS/JHS were determined based on diagnostic codes in the Swedish Patient Register. Hazard ratios (HRs) for EDS/JHS were estimated through Cox regression. There are 45 and 148 cases of EDS/JHS in patients with CD and reference individuals, respectively. This corresponds to a 49% increased risk of EDS/JHS in CD (95%CI=1.07-2.07). The HR for EDS was 2.43 (95%CI=1.20-4.91) and for JHS 1.34 (95%CI=0.93-1.95). Compared to reference individuals undergoing intestinal biopsy, CD was not a risk factor for EDS/JHS. A stronger association was seen in patients initially diagnosed with EDS/JHS and subsequently diagnosed with CD (odds ratio=2.29; 95%CI=1.21-4.34). Individuals with CD have higher risk of EDS/JHS than the general population, which may be due to surveillance bias or factors intrinsic to celiac development. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  10. A study of new potential risk factors for Down syndrome in Upper Egypt

    African Journals Online (AJOL)

    The well-established risk factor, advanced maternal age, was not found in many of the Down syndrome cases in Egypt, while other possible risk factors have not been well studied yet. In view of this, we have conducted the present study to clarify that issue and throw some lights on other potential risk factors in Down ...

  11. Does polycystic ovary syndrome affect cognition? : A functional magnetic resonance imaging study exploring working memory

    NARCIS (Netherlands)

    Soleman, Remi S; Kreukels, Baudewijntje P C; Veltman, Dick J; Cohen-Kettenis, Peggy T; Hompes, Peter G A; Drent, Madeleine L; Lambalk, Cornelis B

    OBJECTIVE: To study effects of overexposure to androgens and subsequent antiandrogenic treatment on brain activity during working memory processes in women with polycystic ovary syndrome (PCOS). DESIGN: In this longitudinal study, working memory function was evaluated with the use of functional

  12. Williams Syndrome Hypersociability: A Neuropsychological Study of the Amygdala and Prefrontal Cortex Hypotheses

    Science.gov (United States)

    Capitao, Liliana; Sampaio, Adriana; Fernandez, Montse; Sousa, Nuno; Pinheiro, Ana; Goncalves, Oscar F.

    2011-01-01

    Individuals with Williams syndrome display indiscriminate approach towards strangers. Neuroimaging studies conducted so far have linked this social profile to structural and/or functional abnormalities in WS amygdala and prefrontal cortex. In this study, the neuropsychological hypotheses of amygdala and prefrontal cortex involvement in WS…

  13. Gene, Brain, and Behavior Relationships in Fragile X Syndrome: Evidence from Neuroimaging Studies

    Science.gov (United States)

    Lightbody, Amy A.; Reiss, Allan L.

    2009-01-01

    Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene-brain-behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the…

  14. The Behavioural Phenotype of Cornelia de Lange Syndrome: A Study of 56 Individuals

    Science.gov (United States)

    Basile, Emanuele; Villa, L.; Selicorni, A.; Molteni, M.

    2007-01-01

    Background: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods: In total, 56 individuals with CdLS…

  15. Experiences of University Life for Students with Asperger's Syndrome: A Comparative Study between Spain and England

    Science.gov (United States)

    Casement, Sue; Carpio de los Pinos, Carmen; Forrester-Jones, Rachel

    2017-01-01

    Research has consistently shown that young people with Asperger's Syndrome (AS) are likely to experience increased anxiety during new social situations; yet, studies have been regionally and culturally bound. The aim of this study was to explore how higher education students with AS experienced attending university in two European countries: the…

  16. Limbic system, the main focus of dementia syndrome; A study with MRI and PET

    Energy Technology Data Exchange (ETDEWEB)

    Matsuzawa, Taiju [Morinosato Hospital, Atsugi, Kanagawa (Japan)

    1990-12-01

    Alzheimer disease and multi-infarct dementia are two entirely different diseases producing almost the same abnormalities as dementia syndrome. The statistical studies with MRI to locate the focus of dementia syndrome in the neocortex was an absolute failure. With MRI there is drastic atrophy and destruction of the amygdala and hippocampus suggesting the limbic system as the focus of dementia syndrome. Destruction of the limbic system in particular amygdala and hippocampus produced the functional obstruction brought about by the marked reduction in the glucose utilization with PET in the bilateral temporal, parietal and occipital association cortices. Although this type constitutes only about 1/5 of all dementia patients. It is considered the fundamental type of dementia syndrome. Aside from this, there is a type wherein simultaneous and symmetrical reductions in glucose utilization of the frontal association cortex and the motor association cortex in the anterior part of the neocortex. This is referred to as type II. It constitutes about 4/5 of all dementia patients which is far more than type I. Based on these results, it is thought that limbic system is the main focus of dementia syndrome. (author).

  17. Association of sleep quality components and wake time with metabolic syndrome: The Qazvin Metabolic Diseases Study (QMDS), Iran.

    Science.gov (United States)

    Zohal, Mohammadali; Ghorbani, Azam; Esmailzadehha, Neda; Ziaee, Amir; Mohammadi, Zahrasadat

    2017-11-01

    The aim of this study was to determine the association of sleep quality and sleep quantity with metabolic syndrome in Qazvin, Iran. this cross sectional study was conducted in 1079 residents of Qazvin selected by multistage cluster random sampling method in 2011. Metabolic syndrome was defined according to the criteria proposed by the national cholesterol education program third Adult treatment panel. Sleep was assessed using the Pittsburgh sleep quality index (PSQI). A logistic regression analysis was used to examine the association of sleep status and metabolic syndrome. Mean age was 40.08±10.33years. Of 1079, 578 (52.2%) were female, and 30.6% had metabolic syndrome. The total global PSQI score in the subjects with metabolic syndrome was significantly higher than subjects without metabolic syndrome (6.30±3.20 vs. 5.83±2.76, P=0.013). In logistic regression analysis, sleep disturbances was associated with 1.388 fold increased risk of metabolic syndrome after adjustment for age, gender, and body mass index. Sleep disturbances component was a predictor of metabolic syndrome in the present study. More longitudinal studies are necessary to understand the association of sleep quality and its components with metabolic syndrome. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  18. Epigenome-wide association study of metabolic syndrome in African-American adults.

    Science.gov (United States)

    Akinyemiju, Tomi; Do, Anh N; Patki, Amit; Aslibekyan, Stella; Zhi, Degui; Hidalgo, Bertha; Tiwari, Hemant K; Absher, Devin; Geng, Xin; Arnett, Donna K; Irvin, Marguerite R

    2018-01-01

    The high prevalence of obesity among US adults has resulted in significant increases in associated metabolic disorders such as diabetes, dyslipidemia, and high blood pressure. Together, these disorders constitute metabolic syndrome, a clinically defined condition highly prevalent among African-Americans. Identifying epigenetic alterations associated with metabolic syndrome may provide additional information regarding etiology beyond current evidence from genome-wide association studies. Data on metabolic syndrome and DNA methylation was assessed on 614 African-Americans from the Hypertension Genetic Epidemiology Network (HyperGEN) study. Metabolic syndrome was defined using the joint harmonized criteria, and DNA methylation was assessed using the Illumina HumanMethylation450K Bead Chip assay on DNA extracted from buffy coat. Linear mixed effects regression models were used to examine the association between CpG methylation at > 450,000 CpG sites and metabolic syndrome adjusted for study covariates. Replication using DNA from a separate sample of 69 African-Americans, as well as meta-analysis combining both cohorts, was conducted. Two differentially methylated CpG sites in the IGF2BP1 gene on chromosome 17 (cg06638433; p value = 3.10 × 10 - 7 ) and the ABCG1 gene on chromosome 21 (cg06500161; p value = 2.60 × 10 - 8 ) were identified. Results for the ABCG1 gene remained statistically significant in the replication dataset and meta-analysis. Metabolic syndrome was consistently associated with increased methylation in the ABCG1 gene in the discovery and replication datasets, a gene that encodes a protein in the ATP-binding cassette transporter family and is involved in intra- and extra-cellular signaling and lipid transport.

  19. Burnout syndrome in surgical oncology and general surgery nurses: a cross-sectional study.

    Science.gov (United States)

    Książek, Ilona; Stefaniak, Tomasz J; Stadnyk, Magdalena; Książek, Janina

    2011-09-01

    The occurrence of burnout syndrome is strongly associated with and modulated by multiple personality and environmental factors. In Poland, nurses experience a discrepancy between the demands, expectations and social status of the position of their profession and low salaries. Such a situation provokes frustration and depression, and further leads to problems of adaptation including burnout syndrome. The aim of this study was to evaluate the occurrence of burnout syndrome among nurses working in general surgery and surgical oncology specialties. The study was designed as a cross-sectional questionnaire survey. It was undertaken in the largest Hospital in the Pomeranian region of Poland. The participants included 60 nurses working in two departments: General Surgery and Surgical Oncology. The study was based upon an anonymous self-test composed of a questionnaire and three psychological measures: Maslach Burnout Inventory (MBI), Psychological Burden Scale and a self-constructed questionnaire on job satisfaction. Intensity of burnout syndrome was significantly higher among oncology nurses than among surgical ones. There was also a strong but not significant trend towards higher Psychological Burden Scale in the group of oncology nurses. The study revealed a high degree of emotional burden and burnout in nurses working in the study hospital suggesting that nurses are at great occupational risk. The findings of the study provide evidence of the potential need to restructure the system and suggest that nurses need more control of their work including a higher degree of involvement in clinical decision-making. Copyright © 2010 Elsevier Ltd. All rights reserved.

  20. A STUDY OF METABOLIC SYNDROME IN PATIENTS UNDERGOING CORONARY ANGIOGRAPHY AT KIMS HOSPITAL, HUBBALLI, KARNATAKA, INDIA

    Directory of Open Access Journals (Sweden)

    Chandrashekar K

    2018-01-01

    Full Text Available BACKGROUND Coronary heart disease has become an epidemic since 20th century. Deaths due to the same are increasing of around 17.5 million deaths in year 2012. The deaths are increasing more in developing countries and metabolic syndrome is a cluster of disorders, which are promoting the development of coronary artery diseases. The disorders include central obesity, insulin resistance, dyslipidaemia and hypertension. Increasing prevalence, changing lifestyle and progression of the disease without obvious symptoms had led to increasing morbidity and mortality. The non-infectious epidemic of the century is posing great challenges to healthcare and research in development of more infrastructure and funds to prevent and treat the disease. MATERIALS AND METHODS A total of 100 patients diagnosed with CAD and posted for Coronary Angiogram (CAG in ICCU at KIMS Hospital, Hubballi, were studied over a period of one and a half year. Cases were categorised according to ATPIII and new IDF criteria for metabolic syndrome and compared. Clinical evaluation, ECG, lipid profile and 2D-echo was done. Statistical analysis done using unpaired t-test, Mann-Whitney tests, Chi-square test and Kappa statistics. RESULTS Of the total 100, 57 had metabolic syndrome by either ATP criteria or IDF criteria. Kappa=0.859 (p-value 150 mg/dL and DM or FBS >100 mg/dL (p value <0.001. The mean values of SBP (144.0 vs. 120.8, DBP (85.6 vs. 73.8 and waist circumference (95.4 vs. 87.7 was statistically significant (p value <0.01 between patients with metabolic syndrome and without metabolic syndrome with IDF criteria (p value <0.001. It was observed LAD (28.1% was the most common vessel involved individually. There was no much significance related to metabolic syndrome. Incidence of CAD was more common in patients with metabolic syndrome than other group. CONCLUSION The prevalence of metabolic syndrome was high in patients with CAD. Both metabolic syndrome definitions identify subset

  1. Metabolic syndrome in family practice in Jordan: a study of high-risk groups.

    Science.gov (United States)

    Yasein, N; Masa'd, D

    2011-12-01

    This study assessed the prevalence of the metabolic syndrome, and its components, as defined by Adult Treatment Panel III criteria in Jordanian patients attending a family practice clinic for management of cardiovascular risk factors. The sample was 730 randomly selected patients aged > or = 25 years. The prevalence of metabolic syndrome was 37.4% (31.7% in men; 41.0% in women). The prevalence increased with age in the total sample and in both sexes. High waist circumference showed the highest prevalence in the total sample (61.6%). Among females it ranked as the first criterion (73.5%). High serum triglyceride level showed the highest prevalence in males (50.2%). Differences between the sexes were significant. Family practitioners should be alerted to the importance of multiple risk factors in the metabolic syndrome.

  2. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

    Science.gov (United States)

    Gerkes, Erica H; van der Kevie-Kersemaekers, Anne-Marie F; Yakin, Mariam; Smeets, Dominique F C M; van Ravenswaaij-Arts, Conny M A

    2010-01-01

    Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically mild cases. In the extremely mild case presented here, specific mitotic abnormalities were detected and proved to be very helpful, since Roberts syndrome/SC phocomelia could be diagnosed after finding premature centromere separation and somatic aneuploidy at routine karyotyping. We discuss these and other mitotic cytogenetic abnormalities that can be of significant diagnostic importance, but which will be missed if only array studies are performed. We also discuss the difference between premature centromere separation and premature (sister) chromatid separation. Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.

  3. The Role of Spiral Multidetector Dynamic CT in the Study of Williams-Campbell Syndrome

    International Nuclear Information System (INIS)

    Scioscio, V. di; Zompatori, M.; Mistura, I.; Montanari, P.; Santilli, L.; Luccaroni, R.; Sverzellati, N.

    2006-01-01

    Williams-Campbell syndrome is a cystic bronchiectatic disease secondary to deficiency or defect of cartilaginous plates in the wall of the airways. In the literature, two main forms are suggested: congenital and acquired (post-infectious). The most frequent symptoms are represented by recurrent pulmonary infections from childhood. Multislice spiral dynamic CT has a major role in the study of cystic pulmonary disease and in differentiating Williams-Campbell syndrome from the other causes of cystic bronchiectasis, in which even lung function tests can give deceptive results

  4. Brain CT studies in 26 cases of aged patients with Down syndrome

    International Nuclear Information System (INIS)

    Arai, Yukio; Yoshihara, Sachiko; Iinuma, Kazuso.

    1995-01-01

    Computed tomographic images of brains from 26 individuals (10 males and 16 females) with Down syndrome were analysed for roentgenographic measurement. Their ages ranged from 14 to 47 years, the average being 28 years. The results showed that their Sylvian fissure ratio was larger in the aged group. A high incidence of calcification in basal ganglia, choroid plexus and pineal body was noted (85%). An increased Sylvian fissure ratio and a high incidence of intracranial calcification may be practically used as representatives of premature aging. Furthermore, a high incidence of mega cisterna magna implicates that it is worthy of study whether individuals with Down syndrome have a predisposition to underdevelopment of cerebellum. (author)

  5. Long working hours and metabolic syndrome among Japanese men: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Kobayashi Tomoko

    2012-05-01

    Full Text Available Abstract Background The link between long working hours and health has been extensively studied for decades. Despite global concern regarding metabolic syndrome, however, no studies to date have solely evaluated the relationship between long working hours and that syndrome. We therefore examined the association between long working hours and metabolic syndrome in a cross-sectional study. Methods Between May and October 2009, we collected data from annual health checkups and questionnaires from employees at a manufacturing company in Shizuoka, Japan. Questionnaires were returned by 1,601 workers (response rate: 96.2%; 1,314 men, 287 women. After exclusions, including women because of a lack of overtime work, the analysis was performed for 933 men. We calculated odds ratios (ORs and 95% confidence intervals (CIs for metabolic syndrome. Further, we conducted a stratified analysis by age-group ( Results Metabolic syndrome was identified in 110 workers (11.8%. We observed a positive association between working hours and metabolic syndrome after adjusting for age, occupation, shift work, smoking status, frequency of alcohol consumption, and cohabiting status. Compared with subjects who worked 7–8 h/day, multivariate ORs for metabolic syndrome were 1.66 (95% CI, 0.91–3.01, 1.48 (95% CI, 0.75–2.90, and 2.32 (95% CI, 1.04–5.16 for those working 8–9 h/day, 9–10 h/day, and >10 h/day, respectively. Similar patterns were obtained when we excluded shift workers from the analysis. In age-stratified analysis, the corresponding ORs among workers aged ≥40 years were 2.02 (95% CI, 1.04–3.90, 1.21 (95% CI, 0.53–2.77, and 3.14 (95% CI, 1.24–7.95. In contrast, no clear association was found among workers aged Conclusions The present study suggests that 10 h/day may be a trigger level of working hours for increased risk of metabolic syndrome among Japanese male workers.

  6. The Role of Spiral Multidetector Dynamic CT in the Study of Williams-Campbell Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scioscio, V. di; Zompatori, M.; Mistura, I.; Montanari, P.; Santilli, L.; Luccaroni, R.; Sverzellati, N. [Medical Univ. of Bologna, S. Orsola-Malpighi Policlinic (Italy). Dept. of Radiology

    2006-10-15

    Williams-Campbell syndrome is a cystic bronchiectatic disease secondary to deficiency or defect of cartilaginous plates in the wall of the airways. In the literature, two main forms are suggested: congenital and acquired (post-infectious). The most frequent symptoms are represented by recurrent pulmonary infections from childhood. Multislice spiral dynamic CT has a major role in the study of cystic pulmonary disease and in differentiating Williams-Campbell syndrome from the other causes of cystic bronchiectasis, in which even lung function tests can give deceptive results.

  7. Clinical study on embolization syndromes after splenic arterial embolization

    International Nuclear Information System (INIS)

    Liu Minhua; Zhou Rumin

    2004-01-01

    Objective: To analyze the reaction of splenic arterial embolization (embolization syndromes) using 3 different materials together with the therapeutic methods. Methods: Thirty nine patients of cirrhosis with hypersplenism and hypersplenotrophy, 11 of them were treated with steel coils, 15 with gelfoam, 13 with the PVA. The embolized area was approximately 60% of the whole splenic area. Results: Thirty nine cases obtained the curative effect. The blood white cell and platelet counts were normal or close to normal. The rates of splenic pain in steel coils group, gelfoam group and PVA group were 81.8%, 100% and 100% respectively. The duration of serious pain were 2-5 d, 1-7 d and 1-7 d in coil group, gelfoam group and PVA group respectively. 33 patients had moderate fever around 38.5 degree C and 8 patients had eructation after embolization. The symptoms disappeared after using antibiotics, dexamethasone and analgesic. Conclusions: The algetic grade of splenic arterial embolization was inverse proportional with the size of embolus. The correct management could effectively control the symptoms of postembolization of the spleen

  8. The use of syndromic surveillance for decision-making during the H1N1 pandemic: a qualitative study.

    Science.gov (United States)

    Chu, Anna; Savage, Rachel; Willison, Don; Crowcroft, Natasha S; Rosella, Laura C; Sider, Doug; Garay, Jason; Gemmill, Ian; Winter, Anne-Luise; Davies, Richard F; Johnson, Ian

    2012-10-30

    Although an increasing number of studies are documenting uses of syndromic surveillance by front line public health, few detail the value added from linking syndromic data to public health decision-making. This study seeks to understand how syndromic data informed specific public health actions during the 2009 H1N1 pandemic. Semi-structured telephone interviews were conducted with participants from Ontario's public health departments, the provincial ministry of health and federal public health agency to gather information about syndromic surveillance systems used and the role of syndromic data in informing specific public health actions taken during the pandemic. Responses were compared with how the same decisions were made by non-syndromic surveillance users. Findings from 56 interviews (82% response) show that syndromic data were most used for monitoring virus activity, measuring impact on the health care system and informing the opening of influenza assessment centres in several jurisdictions, and supporting communications and messaging, rather than its intended purpose of early outbreak detection. Syndromic data had limited impact on decisions that involved the operation of immunization clinics, school closures, sending information letters home with school children or providing recommendations to health care providers. Both syndromic surveillance users and non-users reported that guidance from the provincial ministry of health, communications with stakeholders and vaccine availability were driving factors in these public health decisions. Syndromic surveillance had limited use in decision-making during the 2009 H1N1 pandemic in Ontario. This study provides insights into the reasons why this occurred. Despite this, syndromic data were valued for providing situational awareness and confidence to support public communications and recommendations. Developing an understanding of how syndromic data are utilized during public health events provides valuable evidence

  9. Is antipsychotic polypharmacy associated with metabolic syndrome even after adjustment for lifestyle effects?: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Okumura Yasuyuki

    2011-07-01

    Full Text Available Abstract Background Although the validity and safety of antipsychotic polypharmacy remains unclear, it is commonplace in the treatment of schizophrenia. This study aimed to investigate the degree that antipsychotic polypharmacy contributed to metabolic syndrome in outpatients with schizophrenia, after adjustment for the effects of lifestyle. Methods A cross-sectional survey was carried out between April 2007 and October 2007 at Yamanashi Prefectural KITA hospital in Japan. 334 patients consented to this cross-sectional study. We measured the components consisting metabolic syndrome, and interviewed the participants about their lifestyle. We classified metabolic syndrome into four groups according to the severity of metabolic disturbance: the metabolic syndrome; the pre-metabolic syndrome; the visceral fat obesity; and the normal group. We used multinomial logistic regression models to assess the association of metabolic syndrome with antipsychotic polypharmacy, adjusting for lifestyle. Results Seventy-four (22.2% patients were in the metabolic syndrome group, 61 (18.3% patients were in the pre-metabolic syndrome group, and 41 (12.3% patients were in visceral fat obesity group. Antipsychotic polypharmacy was present in 167 (50.0% patients. In multinomial logistic regression analyses, antipsychotic polypharmacy was significantly associated with the pre-metabolic syndrome group (adjusted odds ratio [AOR], 2.348; 95% confidence interval [CI], 1.181-4.668, but not with the metabolic syndrome group (AOR, 1.269; 95%CI, 0.679-2.371. Conclusions These results suggest that antipsychotic polypharmacy, compared with monotherapy, may be independently associated with an increased risk of having pre-metabolic syndrome, even after adjusting for patients' lifestyle characteristics. As metabolic syndrome is associated with an increased risk of cardiovascular mortality, further studies are needed to clarify the validity and safety of antipsychotic polypharmacy.

  10. Immunological studies in acquired immunodeficiency syndrome. Functional studies of lymphocyte subpopulations

    DEFF Research Database (Denmark)

    Hofmann, B; Ødum, Niels; Platz, P

    1985-01-01

    The lymphocyte transformation response in vitro to mitogens (phytohaemagglutinin, concanavalin A, and pokeweed mitogen) and antigens (purified protein derivative and tetanus) was studied in three patients with acquired immunodeficiency syndrome (AIDS), three patients with pre-AIDS, and six healthy...... controls before and after depletion of T4- or T8-positive cells. In controls, T8-depleted lymphocytes responded as well as peripheral blood mononuclear cells (PBMC) when monocytes were added, whereas T4-depleted cells gave about 50% of this response to mitogens and no response at all to antigens....... No evidence of suppression was seen when various mixtures of T4- and T8-depleted cells were made. In particular, there was a virtually linear relationship between the percentage of T8-depleted cells and the response to antigens. The PBMC of all AIDS and pre-AIDS patients had very low or absent responses...

  11. A prospective naturalistic study of antidepressant-induced jitteriness/anxiety syndrome

    Directory of Open Access Journals (Sweden)

    Harada T

    2014-11-01

    Full Text Available Tsuyoto Harada, Ken Inada, Kazuo Yamada, Kaoru Sakamoto, Jun Ishigooka Department of Psychiatry, Tokyo Women’s Medical University School of Medicine, Tokyo, Japan Objective: Patients often develop neuropsychiatric symptoms such as anxiety and agitation after they have started taking an antidepressant, and this is thought to be associated with a potentially increased risk of suicide. However, the incidence of antidepressant-induced jitteriness/anxiety syndrome has not been fully investigated, and little has been reported on its predictors. The aim of this study was to survey the incidence of antidepressant-induced jitteriness/anxiety syndrome and clarify its predictors in a natural clinical setting.Materials and methods: Between January 2009 and July 2012, we prospectively surveyed 301 patients who had not taken any antidepressants for 1 month before presentation, and who were prescribed antidepressants for 1 month after their initial visit. Patients were classified as developing antidepressant-induced jitteriness/anxiety syndrome if they experienced any symptoms of anxiety, agitation, panic attacks, insomnia, irritability, hostility, aggressiveness, impulsivity, akathisia, hypomania, or mania during the first month.Results: Among the 301 patients, 21 (7.0% developed antidepressant-induced jitteriness/anxiety syndrome. Major depressive disorder and a diagnosis of mood disorder in first-degree relatives of patients were significantly associated with induction of antidepressant-induced jitteriness/anxiety syndrome (odds ratio 10.2, P=0.001; odds ratio 4.65, P=0.02; respectively. However, there was no such relationship for sex, age, class of antidepressant, combined use of benzodiazepines, or diagnosis of anxiety disorder.Conclusion: The findings of this study suggest that major depressive disorder and a diagnosis of mood disorder in first-degree relatives may be clinical predictors of antidepressant-induced jitteriness/anxiety syndrome

  12. Refeeding syndrome influences outcome of anorexia nervosa patients in intensive care unit: an observational study.

    Science.gov (United States)

    Vignaud, Marie; Constantin, Jean-Michel; Ruivard, Marc; Villemeyre-Plane, Michele; Futier, Emmanuel; Bazin, Jean-Etienne; Annane, Djillali

    2010-01-01

    Data on the epidemiology and management of anorexia nervosa (AN) in the intensive care unit (ICU) are scarce. The aim of this study was to evaluate the prevalence and associated morbidity and mortality of AN in French ICUs. We randomly selected 30 ICUs throughout France. Thereafter, we retrospectively analyzed all patients with AN admitted to any of these 30 ICUs between May 2006 and May 2008. We considered demographic data, diagnosis at admission and complications occurring during the stay, focusing on refeeding syndrome and management of refeeding. Eleven of the 30 ICUs participated in the retrospective study, featuring 68 patients, including 62 women. Average body mass index at the admission was 12 ± 3 kg/m2. Twenty one were mechanically ventilated, mainly for neurological reasons. The reported average calorie intake was 22.3 ± 13 kcal/kg/24 h. Major diagnoses at admission were metabolic problems, refeeding survey and voluntary drug intoxication and infection. The most common complications were metabolic, hematological, hepatic, and infectious events, of which 10% occurred during refeeding. Seven patients developed refeeding syndrome. At day one, the average calorie intake was higher for patients who developed refeeding syndrome (23.2 ± 5 Kcal/kg/j; n = 7) versus patients without refeeding syndrome (14.1 ± 3 Kcal/kg/j; n = 61) P = 0.02. Seven patients died, two from acute respiratory distress syndrome and five from multiorgan-failure associated with major hydroelectrolytic problems. The frequency of AN in ICU patients is very low and the crude mortality in this group is about 10%. Prevention and early-detection of refeeding syndrome is the key point.

  13. Effectiveness of electroacupuncture for polycystic ovary syndrome: study protocol for a randomized controlled trial.

    Science.gov (United States)

    Chen, Jiao; Feng, Shuwei; Zeng, Jiuzhi; Wu, Xi; Yang, Mingxiao; Tang, Hongzhi; Fan, Huaying; Yang, Jie; Liang, Fanrong

    2016-05-21

    Whether electroacupuncture is effective for patients with polycystic ovary syndrome is still inconclusive. Therefore, this study aims to evaluate the add-on effects of electroacupuncture to conventional drugs for the treatment of polycystic ovary syndrome. This study is a two-center, open-labeled, randomized, controlled trial. A total of 116 eligible patients with polycystic ovary syndrome will be randomly allocated in a 1:1 ratio to the electroacupuncture plus clomiphene citrate group or to the clomiphene citrate group. Participants in the electroacupuncture plus clomiphene citrate group will receive electroacupuncture treatment in addition to clomiphene citrate capsules, whereas participants in the clomiphene citrate group will be prescribed clomiphene citrate capsules only. Electroacupuncture treatment will be performed from the fifth day of menstruation or withdrawal bleeding until the next menstruation, in three sessions per week for three menstrual cycles. The primary outcome is the ovulation rate. The secondary outcomes include the dominant follicle rate, mean number of dominant follicles, endometrial thickness, time point of ovulation, follicular size before ovulation, luteinizing hormone, estradiol level, and pregnancy rate. The measuring points for outcomes will be baseline and the completion of treatment. Any adverse events occurring during the trial process will be recorded. In addition, a quality-monitoring group independent from the research team will be set up to control the quality of the trial. The design and methodological rigor of this trial will allow for the collection of valuable data to evaluate the effectiveness of electroacupuncture for treating polycystic ovary syndrome. Therefore, this trial will contribute reliable evidence for use in clinical decision-making in acupuncture therapy of polycystic ovary syndrome as well as to future research in acupuncture for polycystic ovary syndrome. Chinese Clinical Trial Registry, ChiCTR-IOR-15007358

  14. Dyslipidaemia in woman with polycystic ovarian syndrome: a case control study in tertiary care hospital of Karachi.

    Science.gov (United States)

    Hussain, Amna; Alam, Junaid Mahmood

    2014-09-01

    To compare lipid profile in lean and obese women with polycystic ovary syndrome with normal weight and obese controls. The case-control study was conducted at the Department of Chemical Pathology, Liaquat National Hospital, Karachi, from March 2006 to April 2007. It comprised 50 cases of polycystic ovary syndrome along with 50 healthy controls matching for age, gender and weight. SPSS 14 was used for statistical analysis. The mean fasting levels of triglyceride and Low density lipoprotein cholesterol were considerably higher in women with polycystic ovary syndrome than those in the control group (p polycystic ovary syndrome, obesity and triglyceride levels (p Polycystic ovary syndrome is associated with a more pronounced atherogenic lipid profile. Lipid parameters were adversely affected in a subgroup that was obese. As such, women with polycystic ovary syndrome are at high risk of developing cardiovascular disease due to the presence of dyslipidaemia.

  15. Prevalence of metabolic syndrome in Bangladesh: a systematic review and meta-analysis of the studies.

    Science.gov (United States)

    Chowdhury, Mohammad Ziaul Islam; Anik, Ataul Mustufa; Farhana, Zaki; Bristi, Piali Dey; Abu Al Mamun, B M; Uddin, Mohammad Jasim; Fatema, Jain; Akter, Tanjila; Tani, Tania Akhter; Rahman, Meshbahur; Turin, Tanvir C

    2018-03-02

    Metabolic syndrome (MS) is a cluster of health problems that set the stage for serious health conditions and places individuals at higher risk of cardiovascular disease, diabetes and stroke. The worldwide prevalence of MS in the adult population is on the rise and Bangladesh is no exception. According to some epidemiological study, MS is highly prevalent in Bangladesh and has increased dramatically in last few decades. To provide a clear picture of the current situation, we conducted a systematic review and meta-analysis with an objective to assess the prevalence of metabolic syndrome among the Bangladeshi population using data already published in the scientific literature. We searched MEDLINE, EMBASE and PubMed and manually checked references of all identified relevant publications that described the prevalence of MS in Bangladesh. Random effects meta-analysis was used to pool the prevalence. Heterogeneity was explored using formal tests and subgroup analyses. Study quality and publication bias was also explored. Electronic and grey literature search retrieved 491 potentially relevant papers. After removing duplicates, reviewing titles and abstracts and screening full texts, 10 studies were finally selected. Most of the studies were conducted in rural populations and study participants were mostly females. The weighted pooled prevalence of metabolic syndrome regardless of gender and criteria used to define metabolic syndrome, was 30.0% with high heterogeneity observed. Weighted pooled prevalence of metabolic syndrome is higher in females (32%) compared to males (25%) though not statistically significant (p = 0.434). Prevalence was highest (37%) when Modified NCEP ATP III criteria was used to define MS, while it was lowest (20%) when WHO criteria was used. In most cases, geographical area (urban/rural) was identified as a source of heterogeneity between the studies. Most of the studies met study quality assessment criteria's except adequate sample size

  16. Cognitive coping strategies and stress in parents of children with Down syndrome: a prospective study

    NARCIS (Netherlands)

    van der Veek, Shelley M. C.; Kraaij, Vivian; Garnefski, Nadia

    2009-01-01

    The purpose of this study was to explore the cross-sectional and prospective relationships between cognitive coping strategies and parental stress in parents of children with Down syndrome. A total of 621 participants filled out questionnaires, including the Cognitive Emotion Regulation

  17. Integrative invasion science: model systems, multi-site studies, focused meta-analysis, and invasion syndromes

    Czech Academy of Sciences Publication Activity Database

    Kueffer, C.; Pyšek, Petr; Richardson, D. M.

    2013-01-01

    Roč. 200, č. 3 (2013), s. 615-633 ISSN 1469-8137 R&D Projects: GA ČR(CZ) GAP504/11/1028; GA ČR GA206/09/0563 Institutional support: RVO:67985939 Keywords : model systems * invasion syndromes * multi-site studies Subject RIV: EF - Botanics Impact factor: 6.545, year: 2013

  18. Copy number variation in obsessive-compulsive disorder and tourette syndrome : a cross-disorder study

    NARCIS (Netherlands)

    McGrath, Lauren M; Yu, Dongmei; Marshall, Christian; Davis, Lea K; Thiruvahindrapuram, Bhooma; Li, Bingbin; Cappi, Carolina; Gerber, Gloria; Wolf, Aaron; Schroeder, Frederick A; Osiecki, Lisa; O'Dushlaine, Colm; Kirby, Andrew; Illmann, Cornelia; Haddad, Stephen; Gallagher, Patience; Fagerness, Jesen A; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Bienvenu, O Joseph; Black, Donald W; Bloch, Michael H; Bruun, Ruth D; Budman, Cathy L; Camarena, Beatriz; Cath, Danielle C; Cavallini, Maria C; Chouinard, Sylvain; Coric, Vladimir; Cullen, Bernadette; Delorme, Richard; Denys, D.; Derks, Eske M; Dion, Yves; Rosário, Maria C; Eapen, Valsama; Evans, Patrick; Falkai, Peter; Fernandez, Thomas V; Garrido, Helena; Geller, Daniel; Grabe, Hans J; Grados, Marco A; Greenberg, Benjamin D; Gross-Tsur, Varda; Grünblatt, Edna; Heiman, Gary A; Hemmings, Sian M J; Herrera, Luis D; Hounie, Ana G; Jankovic, Joseph; Kennedy, James L; King, Robert A; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F; Lennertz, Leonhard; Lochner, Christine; Lowe, Thomas L; Lyon, Gholson J; Macciardi, Fabio; Maier, Wolfgang; McCracken, James T; McMahon, William; Murphy, Dennis L; Naarden, Allan L; Neale, Benjamin M; Nurmi, Erika; Pakstis, Andrew J; Pato, Michele T; Pato, Carlos N; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Reus, Victor I; Richter, Margaret A; Riddle, Mark; Robertson, Mary M; Rosenberg, David; Rouleau, Guy A; Ruhrmann, Stephan; Sampaio, Aline S; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S; Smit, Jan H; Stein, Dan J; Tischfield, Jay A; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Wendland, Jens R; Shugart, Yin Yao; Miguel, Euripedes C; Nicolini, Humberto; Oostra, Ben A; Moessner, Rainald; Wagner, Michael; Ruiz-Linares, Andres; Heutink, Peter; Nestadt, Gerald; Freimer, Nelson; Petryshen, Tracey; Posthuma, Danielle; Jenike, Michael A; Cox, Nancy J; Hanna, Gregory L; Brentani, Helena; Scherer, Stephen W; Arnold, Paul D; Stewart, S Evelyn; Mathews, Carol A; Knowles, James A; Cook, Edwin H; Pauls, David L; Wang, Kai; Scharf, Jeremiah M

    OBJECTIVE: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest

  19. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

    NARCIS (Netherlands)

    McGrath, Lauren M.; Yu, Dongmei; Marshall, Christian; Davis, Lea K.; Thiruvahindrapuram, Bhooma; Li, Bingbin; Cappi, Carolina; Gerber, Gloria; Wolf, Aaron; Schroeder, Frederick A.; Osiecki, Lisa; O'Dushlaine, Colm; Kirby, Andrew; Illmann, Cornelia; Haddad, Stephen; Gallagher, Patience; Fagerness, Jesen A.; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Bienvenu, O. Joseph; Black, Donald W.; Bloch, Michael H.; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Cath, Danielle C.; Cavallini, Maria C.; Chouinard, Sylvain; Coric, Vladimir; Cullen, Bernadette; Delorme, Richard; Denys, Damiaan; Derks, Eske M.; Dion, Yves; Rosário, Maria C.; Eapen, Valsama; Evans, Patrick; Falkai, Peter; Fernandez, Thomas V.; Garrido, Helena; Geller, Daniel; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Grünblatt, Edna; Heiman, Gary A.; Hemmings, Sian M. J.; Herrera, Luis D.; Hounie, Ana G.; Jankovic, Joseph; Kennedy, James L.; King, Robert A.; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Lochner, Christine; Lowe, Thomas L.; Lyon, Gholson J.; Macciardi, Fabio; Maier, Wolfgang; McCracken, James T.; McMahon, William; Murphy, Dennis L.; Naarden, Allan L.; Neale, Benjamin M.; Nurmi, Erika; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark; Robertson, Mary M.; Rosenberg, David; Rouleau, Guy A.; Ruhrmann, Stephan; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Tischfield, Jay A.; Vallada, Homero; Veenstra-Vanderweele, Jeremy; Walitza, Susanne; Wang, Ying; Wendland, Jens R.; Shugart, Yin Yao; Miguel, Euripedes C.; Nicolini, Humberto; Oostra, Ben A.; Moessner, Rainald; Wagner, Michael; Ruiz-Linares, Andres; Heutink, Peter; Nestadt, Gerald; Freimer, Nelson; Petryshen, Tracey; Posthuma, Danielle; Jenike, Michael A.; Cox, Nancy J.; Hanna, Gregory L.; Brentani, Helena; Scherer, Stephen W.; Arnold, Paul D.; Stewart, S. Evelyn; Mathews, Carol A.; Knowles, James A.; Cook, Edwin H.; Pauls, David L.; Wang, Kai; Scharf, Jeremiah M.

    2014-01-01

    Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare ( <1%) copy number variants (CNVs) in OCD and the largest genome-wide

  20. Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

    NARCIS (Netherlands)

    L.M. McGrath; D. Yu (D.); C.R. Marshall (Christian); L.K. Davis (Lea); B. Thiruvahindrapuram (Bhooma); B. Li (Bingbin); C. Cappi (Carolina); G. Gerber (Gloria); A. de Wolf (Anneke); F.A. Schroeder (Frederick); L. Osiecki (Lisa); C. O'Dushlaine (Colm); A. Kirby (Andrew); C. Illmann (Cornelia); S. Haddad (Stephen); P. Gallagher (Patience); J. Fagerness (Jesen); C.L. Barr (Cathy); L. Bellodi (Laura); F. Benarroch (Fortu); O.J. Bienvenu (Oscar); D.W. Black (Donald); J. Bloch (Jocelyne); R.D. Bruun (Ruth); C.L. Budman (Cathy); B. Camarena (Beatriz); D. Cath (Daniëlle); M.C. Cavallini (Maria); S. Chouinard; V. Coric (Vladimir); C. Cullen; R. Delorme (Richard); D.A.J.P. Denys (Damiaan); E.M. Derks (Eske); Y. Dion (Yves); M.C. Rosário (Maria); C.E. Eapen (Chundamannil Eapen); P. Evans; P. Falkai (Peter); T.V. Fernandez (Thomas); H. Garrido (Helena); D. Geller (Daniel); H.J. Grabe (Hans Jörgen); M. Grados (Marco); B.D. Greenberg (Benjamin); V. Gross-Tsur (Varda); E. Grünblatt (Edna); M.L. Heiman (Mark); S.M.J. Hemmings (Sian); L.D. Herrera (Luis); A.G. Hounie (Ana); J. Jankovic (Joseph); J.L. Kennedy; R.A. King; R. Kurlan; N. Lanzagorta (Nuria); M. Leboyer (Marion); J.F. Leckman; L. Lennertz (Leonhard); C. Lochner (Christine); T.L. Lowe (Thomas); H.N. Lyon (Helen); F. MacCiardi (Fabio); W. Maier (Wolfgang); J.T. McCracken (James); W.M. McMahon (William); D.L. Murphy (Dennis); A.L. Naarden (Allan); E. Nurmi (Erika); A.J. Pakstis; C. Pato (Carlos); C. Pato (Carlos); J. Piacentini (John); C. Pittenger (Christopher); M.N. Pollak (Michael); V.I. Reus (Victor); M.A. Richter (Margaret); M. Riddle (Mark); M.M. Robertson; D. Rosenberg (David); G.A. Rouleau; S. Ruhrmann (Stephan); A.S. Sampaio (Aline); J. Samuels (Jonathan); P. Sandor (Paul); B. Sheppard (Brooke); H.S. Singer (Harvey); J.H. Smit (Jan); D.J. Stein (Dan); J.A. Tischfield (Jay); H. Vallada (Homero); J. Veenstra-Vanderweele (Jeremy); S. Walitza (Susanne); Y. Wang (Ying); A. Wendland (Annika); Y.Y. Shugart; E.C. Miguel (Euripedes); H. Nicolini (Humberto); B.A. Oostra (Ben); R. Moessner (Rainald); M. Wagner (Michael); A. Ruiz-Linares (Andres); P. Heutink (Peter); G. Nestadt (Gerald); N.B. Freimer (Nelson); T.L. Petryshen (Tracey); D. Posthuma (Danielle); M.A. Jenike (Michael); N.J. Cox (Nancy); G.L. Hanna (Gregory); H. Brentani (Helena); S.W. Scherer (Stephen); P.D. Arnold (Paul); S.E. Stewart; C. Mathews; J.A. Knowles (James A); E.H. Cook (Edwin); D.L. Pauls (David); K. Wang (Kai); J.M. Scharf; B.M. Neale (Benjamin)

    2014-01-01

    textabstractObjective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and

  1. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

    NARCIS (Netherlands)

    McGrath, L.M.; Yu, D.; Marshall, C.; Davis, L.K.; Thiruvahindrapuram, B.; Li, B.; Cappi, C.; Gerber, G.; Wolf, A.; Schroeder, F.A.; Osiecki, L.; O'Dushlaine, C.; Kirby, A.; Illmann, C.; Haddad, S.; Gallagher, P.; Fagerness, J.A.; Barr, C.L.; Bellodi, L.; Benarroch, F.; Bienvenu, O.J.; Black, D. W.; Bloch, M.H.; Bruun, R.D.; Budman, C.L.; Camarena, B.; Cath, D.C.; Cavallini, M.C.; Chouinard, S.; Coric, V.; Cullen, B.; Delorme, R.; Denys, D.; Derks, E.M.; Dion, Y.; Rosário, M.C.; Eapen, V.; Evans, P.; Falkai, P.; Fernandez, T.V.; Garrido, H.; Geller, D.; Grabe, H.J.; Grados, M.A.; Greenberg, B.D.; Gross-Tsur, V.; Grünblatt, E.; Heiman, G.A.; Hemmings, S.M.; Herrera, L.D.; Hounie, A.G.; Jankovic, J.; Kennedy, J.L.; King, R.A.; Kurlan, R.; Lanzagorta, N.; Leboyer, M.; Leckman, J.F.; Lennertz, L.; Lochner, C.; Lowe, T.L.; Lyon, G.J.; Macciardi, F.; Maier, W.; McCracken, J.T.; McMahon, W.; Murphy, D.L.; Naarden, A.L.; Neale, B. M.; Nurmi, E.; Pakstis, A.J.; Pato, M. T.; Piacentini, J.; Pittenger, C.; Pollak, Y.; Reus, V.I.; Richter, M.A.; Riddle, M.; Robertson, M.M.; Rosenberg, D.; Rouleau, G.A.; Ruhrmann, S.; Sampaio, A.S.; Samuels, J.; Sandor, P.; Sheppard, B.; Singer, H.S.; Smit, J.H.; Stein, D.J.; Tischfield, J.A.; Vallada, H.; Veenstra-Vanderweele, J.; Walitza, S.; Wang, Y.; Wendland, J.R.; Shugart, Y.Y.; Miguel, E.C.; Nicolini, H.; Oostra, B.A.; Moessner, R.; Wagner, M.; Ruiz-Linares, A.; Heutink, P.; Nestadt, G.; Freimer, N.; Petryshen, T.; Posthuma, D.; Jenike, M.A.; Cox, N.J.; Hanna, G.L.; Brentani, H.; Scherer, S.W.; Arnold, P.D.; Stewart, S.E.; Mathews, C.A.; Knowles, J.A.; Cook, E.H.; Pauls, D.L.; Wang, K.; Scharf, J.M.

    2014-01-01

    Objective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest

  2. Heritability of Polycystic Ovary Syndrome in a Dutch Twin-family study

    NARCIS (Netherlands)

    Vink, J.M.; Sadrzadeh, S.; Lambalk, C.B.; Boomsma, D.I.

    2006-01-01

    Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age. There is evidence for a genetic component in PCOS based on familial clustering of cases. Objective: In the present study, the heritability of PCOS was estimated.

  3. Parent-Implemented Hanen Program "More than Words" in Angelman Syndrome: A Case Study

    Science.gov (United States)

    de Carlos Isla, Mercedes; Fortea, Inmaculada Baixauli

    2016-01-01

    Children with Angelman syndrome (AS) exhibit significant social, communicative and cognitive difficulties. The aim of this case study was to describe the profile of communicative abilities of a child with AS, before and after the implementation of the Hanen program "More than Words" (MTW). Additionally, changes on the language directed…

  4. Influenza-like syndrome in homosexual men: a prospective diagnostic study

    NARCIS (Netherlands)

    de Wolf, F.; Lange, J. M.; Bakker, M.; Tjong-A-Hung, S.; Hooykaas, C.; Coutinho, R.; van der Noordaa, J.; Goudsmit, J.

    1988-01-01

    In the course of a prospective study of the prevalence and incidence of infection with the human immunodeficiency virus (HIV) and risk factors for the acquired immune deficiency syndrome among 961 homosexual men, 97 initially HIV antibody seronegative men reported a febrile period lasting at least

  5. Physical activity, metabolic syndrome, and coronary risk: the EPIC-Norfolk prospective population study

    NARCIS (Netherlands)

    Broekhuizen, Lysette N.; Boekholdt, S. Matthijs; Arsenault, Benoit J.; Despres, Jean-Pierre; Stroes, Erik S. G.; Kastelein, John J. P.; Khaw, Kay-Tee; Wareham, Nicholas J.

    2011-01-01

    Objective: We investigated the association between physical activity, metabolic syndrome (MS), and the risk of future coronary heart disease (CHD) and mortality due to CHD in middle-aged men and women. Design: Prospective cohort study. Subjects: A total of 10,134 men and women aged 45-79 years at

  6. Ageing and Dementia in a Longitudinal Study of a Cohort with Down Syndrome

    Science.gov (United States)

    Carr, Janet; Collins, Suzanne

    2014-01-01

    Background: A population sample of people with Down syndrome has been studied from infancy and has now been followed up again at age 47 years. Methods: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Results: Scores on verbal tests of…

  7. Study of medication-free children with Tourette syndrome do not show imaging abnormalities

    DEFF Research Database (Denmark)

    Jeppesen, Signe Søndergaard; Debes, Nanette Mol; Simonsen, Helle Juhl

    2014-01-01

    BACKGROUND: Imaging studies of patients with Tourette's syndrome (TS) across different cohorts have shown alterations in gray and white matter in areas associated with the cortico-striato-thalamic-cortical (CSTC) pathways; however, no consistent findings have subsequently established a clear...

  8. Educating Children with Down Syndrome in Lebanon: An Exploratory Study of Urban Mothers' Perspective

    Science.gov (United States)

    Hatoum, Rima J.

    2010-01-01

    In view of the fact that Lebanon does not currently have a special education infrastructure, the purpose of this exploratory qualitative study was to understand the phenomenon of educating children with Down syndrome (DS) in Lebanon in terms of the meanings mothers ascribe to it and their description of their experience. The intent was to develop…

  9. Metabolic syndrome in a cohort of affectively ill patients, a naturalistic study

    DEFF Research Database (Denmark)

    Vinberg, Maj; Madsen, Maiken; Breum, Leif

    2012-01-01

    at a Mood Disorder Clinic. Methods: Patients were evaluated for the presence of metabolic syndrome (MeS) according to modified NCEP ATP III criteria. Results: Of the 143 patients eligible for participation, 100 patients participated in the study (32% male, mean age 43.6 ± 14.2); the prevalence of MeS was 26...

  10. Treatment of primary Sjogren's syndrome with D-penicillamine: a pilot study

    NARCIS (Netherlands)

    ter Borg, E.J.; Haanen, H.C.M.; Haas, F.J.L.M.; Bistervels, J.H.G.M.; Huisman, F.W.; Kerckhaert, J.A.; Kallenberg, Cees

    2002-01-01

    Background: Up to now no satisfying systemic treatment is available for patients with primary Sjogren's syndrome. Methods: In a prospective, open study we investigated the effect of D-penicillamine (first three months 250 mg/day, next three months 500 mg/day) on clinical and immunological parameters

  11. Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study

    NARCIS (Netherlands)

    van Engelen, Klaartje; Bartelings, Margot M.; Gittenberger-de Groot, Adriana C.; Baars, Marieke J. H.; Postma, Alex V.; Bijlsma, Emilia K.; Mulder, Barbara J. M.; Jongbloed, Monique R. M.

    2014-01-01

    Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a

  12. Testicular failure in boys with Prader-Willi syndrome: Longitudinal studies of reproductive hormones

    NARCIS (Netherlands)

    E.P.C. Siemensma (Elbrich); R.F.A. De Lind Van Wijngaarden (Roderick F.); B.J. Otten (Barto); F.H. de Jong (Frank); A.C.S. Hokken-Koelega (Anita)

    2012-01-01

    textabstractContext: The pathophysiology of hypogonadism in boys with Prader-Willi Syndrome( PWS) remains uncertain. Several reports described hypogonadotropic hypogonadism, some reported primary gonadal failure, and others a combination of both. Objectives: The aim of the study was to evaluate

  13. Testicular failure in boys with Prader-Willi syndrome: longitudinal studies of reproductive hormones.

    NARCIS (Netherlands)

    Siemensma, E.P.C.; Lind van Wijngaarden, R.F. de; Otten, B.J.; Jong, F.H. de; Hokken-Koelega, A.C.S.

    2012-01-01

    CONTEXT: The pathophysiology of hypogonadism in boys with Prader-Willi Syndrome (PWS) remains uncertain. Several reports described hypogonadotropic hypogonadism, some reported primary gonadal failure, and others a combination of both. OBJECTIVES: The aim of the study was to evaluate gonadal function

  14. Prevalence, course and determinants of carpal tunnel syndrome symptoms during pregnancy : A prospective study

    NARCIS (Netherlands)

    Meems, M.; Truijens, S. E. M.; Spek, V.; Visser, L. H.; Pop, V. J. M.

    2015-01-01

    Objective To investigate the prevalence, severity and relation to fluid retention of self-reported pregnancy-related carpal tunnel syndrome (CTS) symptoms in a large sample of pregnant women. Design A prospective longitudinal cohort study. Setting Dutch women who became pregnant between January 2013

  15. Profiles of Social Communicative Competence in Middle School Children with Asperger Syndrome: Two Case Studies

    Science.gov (United States)

    Bellon-Harn, Monica L.; Harn, William E.

    2006-01-01

    Among characteristics of children diagnosed with Asperger syndrome (AS) are difficulties in social communication. This study describes the social communicative competence of two middle school children with AS participating in conversations in three different situational contexts. The conversations were transcribed and submitted to three kinds of…

  16. EFL Teachers' Perceptions of Strategy Deficiency Syndrome: A Grounded Theory Study

    Science.gov (United States)

    Ostovar-Namaghi, Seyyed Ali; Ahmadabadi-Tak, Bahareh

    2017-01-01

    Strategy-deficient language learners struggle to develop their language proficiency through limiting and inappropriate strategies. This study aims at exploring experienced teachers' perceptions of strategy deficiency syndrome among EFL learners. To this end, the perspectives of a purposive sample of experienced teachers teaching in private…

  17. Prosodic Abilities in Spanish and English Children with Williams Syndrome: A Cross-Linguistic Study

    Science.gov (United States)

    Martinez-Castilla, Pastora; Stojanovik, Vesna; Setter, Jane; Sotillo, Maria

    2012-01-01

    The aim of this study was to compare the prosodic profiles of English- and Spanish-speaking children with Williams syndrome (WS), examining cross-linguistic differences. Two groups of children with WS, English and Spanish, of similar chronological and nonverbal mental age, were compared on performance in expressive and receptive prosodic tasks…

  18. Natural History of Thyroid Function in Adults with Down Syndrome--10-Year Follow-Up Study

    Science.gov (United States)

    Prasher, V.; Gomez, G.

    2007-01-01

    Background: The natural history of thyroid function in adults with Down syndrome (DS) is unknown. Method: This study investigated annual thyroid function tests in 200 adults with DS over a 10-year period. Results: Transient and persistent thyroid dysfunction was common. The 5- and 10-year incidence of definite hypothyroidism was 0.9%-1.64% and…

  19. Understanding the Friendship Processes of Individuals with Asperger's Syndrome: A Phenomenological Study of Reflective College Experiences

    Science.gov (United States)

    Lee, Kammie Bohlken

    2010-01-01

    This phenomenological study shed light on the reflective college experiences of 11 individuals with Asperger's Syndrome and High Functioning Autism from a competence rather than a deficit model of disability (Biklen, 2005). Using Goleman's model of Social Intelligence (2006) as a theoretical framework, the cognitive, behavioral, and affective…

  20. Möbius syndrome. A clinical, radiological, neurophysiological, genetic and neuropathological study.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.

    2005-01-01

    The overall conclusion of this study is that the Möbius condition contains two distinct disorders: Firstly, an autosomal disorder which can be best described as hereditary congenital facial palsy. Secondly, a disorder for which we reserve the name Möbius syndrome and is characterized by congenital

  1. Bilingualism and Biliteracy in Down Syndrome: Insights from a Case Study

    Science.gov (United States)

    Burgoyne, Kelly; Duff, Fiona J.; Nielsen, Dea; Ulicheva, Anastasia; Snowling, Margaret J.

    2016-01-01

    We present the case study of MB--a bilingual child with Down syndrome (DS) who speaks Russian (first language [L1]) and English (second language [L2]) and has learned to read in two different alphabets with different symbol systems. We demonstrate that, in terms of oral language, MB is as proficient in Russian as English, with a mild advantage for…

  2. An update on psoriasis and metabolic syndrome: A meta-analysis of observational studies.

    Directory of Open Access Journals (Sweden)

    Sanminder Singh

    Full Text Available The relationship between psoriasis and metabolic syndrome is not well understood. Though multiple epidemiologic studies have suggested a link between psoriasis and metabolic syndrome, there is a lack of a comprehensive meta-analysis synthesizing the results of all available observational studies to date. In this meta-analysis, we examined global data on the relationship between psoriasis and odds of metabolic syndrome by searching for studies published between 1946-2016. Specifically, we analyzed the results from 35 observational studies from 20 countries with 1,450,188 total participants, of which 46,714 were psoriasis patients. The pooled odds ratio based on random effects analysis was 2.14 (95% CI 1.84-2.48. Publication bias was present, as evidenced by an Egger test and graphical visualization through a funnel plot (p = 0.001. Based on this comprehensive meta-analysis, psoriasis patients have higher odds of having metabolic syndrome when compared with the general population.

  3. Clinical profile and outcomes of acute cardiorenal syndrome type-5 in sepsis: An eight-year cohort study.

    Science.gov (United States)

    Vallabhajosyula, Saraschandra; Sakhuja, Ankit; Geske, Jeffrey B; Kumar, Mukesh; Kashyap, Rahul; Kashani, Kianoush; Jentzer, Jacob C

    2018-01-01

    To evaluate the clinical features and outcomes of acute cardiorenal syndrome type-5 in patients with severe sepsis and septic shock. Historical cohort study of all adult patients with severe sepsis and septic shock admitted to the intensive care units (ICU) at Mayo Clinic Rochester from January 1, 2007 through December 31, 2014. Patients with prior renal or cardiac dysfunction were excluded. Patients were divided into groups with and without cardiorenal syndrome type-5. Acute Kidney Injury (AKI) was defined by both serum creatinine and urine output criteria of the AKI Network and the cardiac injury was determined by troponin-T levels. Outcomes included in-hospital mortality, ICU and hospital length of stay, and one-year survival. Of 602 patients meeting the study inclusion criteria, 430 (71.4%) met criteria for acute cardiorenal syndrome type-5. Patients with cardiorenal syndrome type-5 had higher severity of illness, greater vasopressor and mechanical ventilation use. Cardiorenal syndrome type-5 was associated higher unadjusted in-hospital mortality, ICU and hospital lengths of stay, and lower one-year survival. When adjusted for age, gender, severity of illness and mechanical ventilation, cardiorenal syndrome type-5 was independently associated with 1.7-times greater odds of in-hospital mortality (p = .03), but did not predict one-year survival (p = .06) compared to patients without cardiorenal syndrome. In sepsis, acute cardiorenal syndrome type-5 is associated with worse in-hospital mortality compared to patients without cardiorenal syndrome.

  4. Greater trochanter pain syndrome: A descriptive MR imaging study

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    Klontzas, Michail E., E-mail: miklontzas@gmail.com; Karantanas, Apostolos H., E-mail: akarantanas@gmail.com

    2014-10-15

    Objective: Greater trochanter pain syndrome (GTPS) is a diverse clinical entity caused by a variety of underlying conditions. We sought to explore the impact of (1) hip morphology, namely the center-edge angle (CEa) and femoral neck-shaft (NSa) angle, (2) hip abductor tendon degeneration, (3) the dimensions of peritrochanteric edema and (4) bursitis, on the presence of GTPS, using MR imaging. Materials and methods: The presence of pain was prospectively assessed blindly by the senior author. CEa and NSa were blindly measured in 174 hip MR examinations, after completion of the clinical evaluation by another evaluator. The existence and dimensions of T2 hyperintensity of the peritrochanteric soft tissues, the existence and dimensions of bursae, as well as degeneration and tearing of gluteus tendons were also recorded. Results: Out of 174 examinations, 91 displayed peritrochanteric edema (group A) and 34 bursitis, all with peritrochanteric edema (group B). A number of 78 patients from both A and B groups, showed gluteus medius tendon degeneration and one tendon tear. CEa of groups A and B were 6° higher than those of normals (group C, P = 0.0038). The mean age of normals was 16.6 years less than in group A and 19.8 years less than in group B (P < 0.0001). Bursitis was associated with pain with a negative predictive value of 97% (P = 0.0003). Conclusion: Acetabular morphology is associated with GTPS and the absence of bursitis was proved to be clinically relevant. Peritrochanteric edema alone was not associated with local pain.

  5. Greater trochanter pain syndrome: A descriptive MR imaging study

    International Nuclear Information System (INIS)

    Klontzas, Michail E.; Karantanas, Apostolos H.

    2014-01-01

    Objective: Greater trochanter pain syndrome (GTPS) is a diverse clinical entity caused by a variety of underlying conditions. We sought to explore the impact of (1) hip morphology, namely the center-edge angle (CEa) and femoral neck-shaft (NSa) angle, (2) hip abductor tendon degeneration, (3) the dimensions of peritrochanteric edema and (4) bursitis, on the presence of GTPS, using MR imaging. Materials and methods: The presence of pain was prospectively assessed blindly by the senior author. CEa and NSa were blindly measured in 174 hip MR examinations, after completion of the clinical evaluation by another evaluator. The existence and dimensions of T2 hyperintensity of the peritrochanteric soft tissues, the existence and dimensions of bursae, as well as degeneration and tearing of gluteus tendons were also recorded. Results: Out of 174 examinations, 91 displayed peritrochanteric edema (group A) and 34 bursitis, all with peritrochanteric edema (group B). A number of 78 patients from both A and B groups, showed gluteus medius tendon degeneration and one tendon tear. CEa of groups A and B were 6° higher than those of normals (group C, P = 0.0038). The mean age of normals was 16.6 years less than in group A and 19.8 years less than in group B (P < 0.0001). Bursitis was associated with pain with a negative predictive value of 97% (P = 0.0003). Conclusion: Acetabular morphology is associated with GTPS and the absence of bursitis was proved to be clinically relevant. Peritrochanteric edema alone was not associated with local pain

  6. The OXIMAPA Study: Hypertension Control by ABPM and Association with Sleep Apnea Syndrome by Pulse Oximetry.

    Science.gov (United States)

    Maricoto, Tiago; Silva, Eurico Alves Rodrigues; Damião, Pedro; Bastos, José Mesquita

    2017-02-27

    Ambulatory blood pressure monitoring by automatic device is the best blood pressure evaluation method and sleep apnea syndrome is the leading cause of poor control. Oximetry allows screening these individuals but its usefulness has been poorly explored in Primary Health Care. The aim was to evaluate the blood pressure control at the office and with ambulatory blood pressure monitoring by automatic device and to relate it to sleep apnea syndrome. We selected a sample of 50 participants, representative of 3036 hypertensive patients. The variables were: blood pressure value at the office and blood pressure with ambulatory blood pressure monitoring by automatic device; presence of criteria of sleep apnea syndrome in oximetry. The prevalence of uncontrolled blood pressure was 56% on office evaluation and 68% on ambulatory blood pressure monitoring by automatic device. It was found: 36% of daytime hypertension, 52% nocturnal hypertension, 40% non-dipper profile, 16% of white coat hypertension and 28% masked hypertension. The prevalence of sleep apnea syndrome was 16%. Blood pressure in ambulatory blood pressure monitoring by automatic device and blood pressure in office showed no statistically significant association (p = 0.761). We found a statistically significant association between sleep apnea syndrome and daytime hypertension (p = 0.019) and non-dipper profile (p = 0.005). Ambulatory blood pressure monitoring by automatic device detected more 12% of uncontrolled hypertension than office blood pressure. Sleep apnea syndrome is strongly associated with uncontrolled hypertension and oximetry may be a good screening method, but should be studied further.

  7. The gendered impact of Irritable Bowel Syndrome: a qualitative study of patients' experiences.

    Science.gov (United States)

    Björkman, Ida; Dellenborg, Lisen; Ringström, Gisela; Simrén, Magnus; Jakobsson Ung, Eva

    2014-06-01

    The aim of the study was to explore the impact of irritable bowel syndrome on daily life from a gender perspective. Irritable bowel syndrome is a common functional disorder, characterized by abdominal pain, diarrhoea and/or constipation. Sufferers experience negative emotions due to unpredictable symptoms and sometimes feel trivialized by healthcare professionals. The sufferers' experience of living with this disorder has never been explored from a gender perspective. A qualitative, interpretative method was used. A qualitative, hermeneutic method was applied. Interviews were conducted with 19 patients in 2011 and analysed in a constructionist gender framework. Constructionist gender theory views gender and identity as cultural constructs that develop through interplay between the individual and his/her social context and cultural norms. The main theme to emerge from the interviews was as follows: 'A normative framework of femaleness and maleness leads to suffering for persons with irritable bowel syndrome'. This consists of three interwoven themes: 'Being forced to abandon gender illusions'; 'Being forced to transcend taboos' and 'Reinforced suffering in healthcare encounters'. Men demonstrated masculinity by stressing the importance of being solid family providers while women spoke of nurturing and relational responsibilities in line with traditional notions of femininity. The experience of living with irritable bowel syndrome differs between men and women due to differing societal expectations, life situation and the everyday construction of gender identities. Gender stereotyping by healthcare professionals perpetuates rather than alleviates the suffering experienced by men and women with irritable bowel syndrome. In healthcare encounters, women risk being trivialized and men risk being overlooked due to the 'female health concern' label attached to irritable bowel syndrome. © 2013 John Wiley & Sons Ltd.

  8. Retrospective study of paraneoplastic neurological syndromes in a Chinese Han population from Shandong, East China.

    Science.gov (United States)

    Miao, Shuai; Liao, Shaohua; Li, Heng; Niu, Bing; Hu, Huaiqiang; Qian, Ying; Guo, Hongwei; Cao, Bingzhen

    2018-02-05

    To analyze the clinical features, diagnostic strategies and therapeutic methods associated with paraneoplastic neurological syndromes. A retrospective study of paraneoplastic neurological syndromes was performed at a single center in Shandong, East China. The medical records and follow-up data of 28 patients were intensively reviewed between February 2011 and December 2014. Twenty-four (85.7%) patients experienced subacute or chronic onset of disease, and the most common symptoms reported were mild myasthenia and paresthesias. Twenty-five (89.3%) patients presented nervous system lesions prior to occult tumors, and the median time frame between paraneoplastic neurological syndromes onset and the diagnosis of a tumor was 15 weeks. Sensorimotor neuropathy, Lambert-Eaton myasthenic syndrome and limbic encephalitis were the three most common neurological syndromes reported. Elevated serum tumor markers were observed in 44.0% of patients, while 40.7% of patients were positive for onconeural antibodies. Tumors were detected in 21 (75.0%) patients after repeated whole-body screening, and lung carcinomas were the most common primary tumor detected. Seventeen patients received anti-tumor or immunological therapy, and clinical symptoms were relieved in 13 (76.5%) of these patients. In the majority of paraneoplastic neurological syndromes patients, the onset of disease is subacute or chronic with mild clinical symptoms. Nervous system lesions usually occur prior to occult tumors with complicated and various clinical manifestations. Neither tumor markers nor onconeural antibodies exhibit a high rate of occurrence, while repeated whole-body screening is helpful in identifying occult tumors. Early diagnosis and treatment are crucial to these patients.

  9. Association of Obstructive Sleep Apnea Syndrome and Buerger's Disease: a Pilot Study

    Directory of Open Access Journals (Sweden)

    Gholam Hosein Kazemzadeh

    2015-10-01

    Full Text Available In this study we evaluated the incidence and severity of obstructive sleep apnea and Obstructive sleep apnea syndrome in patients with thromboangiitis obliterans for reduction of crisis. In 40 patients with Buerger's disease daily sleepiness and risk of Obstructive sleep apnea were evaluated using the Epworth sleeping scale (ESS and the Stop-Bang score. An Apnea-link device was used for evaluation of chest motion, peripheral oxygenation, and nasal airflow during night-time sleep. The apnea/hypopnea index (AHI and respiratory tdisurbance index were used for Obstructive sleep apnea syndrome diagnosis. All subjects were cigarette smokers and 80% were opium addicted. The prevalence of Obstructive sleep apnea (AHI>5 was 80%, but incidence of Obstructive sleep apnea syndrome (AHI>5 + ESS≥10 was 5% (2/40. There was no association between duration or frequency of hospitalization and Obstructive sleep apnea syndrome (P=0.74 and 0.86, respectively. In addition, no correlation between ESS and Stop-Bang scores and AHI was observed (P=0.58 and 0.41, respectively. There was an inverse correlation between smoking rate and AHI (P=0.032, r = −0.48. We did not find an association between Buerger's disease and Obstructive sleep apnea syndrome. Although the AHI was high (80% and daily sleepiness was low. The negative correlation of smoking with AHI and on the other hand daily napping in addiction may be caused by the absence of a clear relationship between Obstructive sleep apnea syndrome and Buerger's disease.

  10. A Metabonomics Profiling Study on Phlegm Syndrome and Blood-Stasis Syndrome in Coronary Heart Disease Patients Using Liquid Chromatography/Quadrupole Time-of-Flight Mass Spectrometry

    Directory of Open Access Journals (Sweden)

    Linlin Zhao

    2014-01-01

    Full Text Available A metabonomics approach based on liquid chromatography/quadrupole time-of-flight mass spectrometry (LC-Q-TOF/MS was utilized to obtain potential biomarkers of coronary heart disease (CHD patients and investigate the ZHENG types differentiation in CHD patients. The plasma samples of 20 CHD patients with phlegm syndrome, 20 CHD patients with blood-stasis syndrome, and 16 healthy volunteers were collected in the study. 26 potential biomarkers were identified in the plasma of CHD patients and 19 differential metabolites contributed to the discrimination of phlegm syndrome and blood-stasis syndrome in CHD patients (VIP>1.5; P<0.05 which mainly involved purine metabolism, pyrimidine metabolism, amino acid metabolism, steroid biosynthesis, and arachidonic acid metabolism. This study demonstrated that metabonomics approach based on LC-MS was useful for studying pathologic changes of CHD patients and interpreting the differentiation of ZHENG types (phlegm and blood-stasis syndrome in traditional Chinese medicine (TCM.

  11. The Significance of Brain Transcranial Sonography in Burning Mouth Syndrome: a Pilot Study

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    Iris Zavoreo

    2017-01-01

    Full Text Available Objective: Burning mouth syndrome (BMS is a chronic disorder which is affecting mostly postmenopausal women and is characterized by burning symptoms in the oral cavity on the clinically healthy oral mucosa. The results of previous studies suggested a possible role of peripheral and/or central neurological disturbances in these patients. The aim of this study was to analyze patients with burning mouth syndrome using transcranial sonography. Methods: By use of transcranial sonography of the brain parenchyma, substantia nigra, midbrain raphe and brain nucleus were evaluated in 20 patients with BMS (64.7±12.3 years and 20 controls with chronic pain in the lumbosacral region (61.5±15. Statistical analysis was performed by use of Student t test with significance set at p<0.05. Results: The results of this study have shown hypoechogenicity of the substantia nigra and midbrain raphe as well as hyperechogenicity of the brain nucleus in BMS patients (p<0,05 as compared to controls. Conclusions: Altered transcranial sonography findings of the brain parenchyma, midbrain raphe and brain nucleus in patients with burning mouth syndrome might reflect central disturbances within this syndrome.

  12. The effect of liraglutide on weight loss in women with polycystic ovary syndrome: an observational study

    Directory of Open Access Journals (Sweden)

    Christina Bording Rasmussen

    2014-08-01

    Full Text Available AbstractObjective: The aim of the present study was to evaluate the effect of the glucagon-like peptide-1 analogue liraglutide on weight loss in overweight and obese women with polycystic ovary syndrome. Methods: In an observational study, 84 overweight or obese women with polycystic ovary syndrome were treated with liraglutide. Baseline characteristics and weight changes at clinical follow-up were recorded. Main outcome measures were absolute and relative weight loss.Results: In overweight or obese women with polycystic ovary syndrome treated with liraglutide for a minimum of 4 weeks a mean weight loss of 9.0 kg (95% CI: 7.8-10.13, p<0.0001 and a mean decrease in BMI of 3.2 kg/m2 (95% CI: 2.8-3.6, p<0.0001 was found. A weight loss of more than 5% and 10% of baseline weight was seen in 81.7% and 32.9% of patients, respectively. The mean duration of treatment with liraglutide was 27.8 weeks (SD 19.2.Conclusion: Treatment with liraglutide in combination with metformin and lifestyle intervention resulted in a significant weight loss in overweight and obese women with polycystic ovary syndrome, indicating that liraglutide may be an effective alternative for weight loss in this group of patients. However, larger placebo-controlled studies are needed to confirm this.

  13. Incremental Predictive Value of Serum AST-to-ALT Ratio for Incident Metabolic Syndrome: The ARIRANG Study

    Science.gov (United States)

    Ahn, Song Vogue; Baik, Soon Koo; Cho, Youn zoo; Koh, Sang Baek; Huh, Ji Hye; Chang, Yoosoo; Sung, Ki-Chul; Kim, Jang Young

    2016-01-01

    Aims The ratio of aspartate aminotransferase (AST) to alanine aminotransferase (ALT) is of great interest as a possible novel marker of metabolic syndrome. However, longitudinal studies emphasizing the incremental predictive value of the AST-to-ALT ratio in diagnosing individuals at higher risk of developing metabolic syndrome are very scarce. Therefore, our study aimed to evaluate the AST-to-ALT ratio as an incremental predictor of new onset metabolic syndrome in a population-based cohort study. Material and Methods The population-based cohort study included 2276 adults (903 men and 1373 women) aged 40–70 years, who participated from 2005–2008 (baseline) without metabolic syndrome and were followed up from 2008–2011. Metabolic syndrome was defined according to the harmonized definition of metabolic syndrome. Serum concentrations of AST and ALT were determined by enzymatic methods. Results During an average follow-up period of 2.6-years, 395 individuals (17.4%) developed metabolic syndrome. In a multivariable adjusted model, the odds ratio (95% confidence interval) for new onset of metabolic syndrome, comparing the fourth quartile to the first quartile of the AST-to-ALT ratio, was 0.598 (0.422–0.853). The AST-to-ALT ratio also improved the area under the receiver operating characteristic curve (AUC) for predicting new cases of metabolic syndrome (0.715 vs. 0.732, P = 0.004). The net reclassification improvement of prediction models including the AST-to-ALT ratio was 0.23 (95% CI: 0.124–0.337, Pmetabolic syndrome and had incremental predictive value for incident metabolic syndrome. PMID:27560931

  14. Prevalence of metabolic syndrome in scholars from Bucaramanga, Colombia: a population-based study

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    Camacho Paul A

    2009-04-01

    Full Text Available Abstract Background Obesity and metabolic syndrome are strongly associated with type 2 diabetes mellitus and cardiovascular diseases, thus the increasing trend in their prevalence among children and adolescents from developing countries requires a further understanding of their epidemiology and determinants. Methods and design A cross-sectional study was designed to determine the prevalence of metabolic syndrome among 6–10 year-old children from Bucaramanga, Colombia. A two-stage random-cluster (neighborhoods, houses sampling process was performed based on local city maps and local statistics. The study involves a domiciliary survey; including a comprehensive socio-demographic, nutritional and physical activity characterization of the children that participated in the study, followed by a complete clinical examination; including blood pressure, anthropometry, lipid profile determination, fasting glucose and insulin levels. The prevalence of metabolic syndrome will be determined using definitions and specific percentile cut-off points for this population. Finally, the association between components of metabolic syndrome and higher degrees of insulin resistance will be analyzed through a multivariable logistic regression model. This study protocol was designed in compliance with the Helsinki declaration and approved by the local ethics board. Consent was obtained from the children and their parents/guardians. Discussion A complete description of the environmental and non-environmental factors underlying the burden of metabolic syndrome in children from a developing country like Colombia will provide policy makers, health care providers and educators from similar settings with an opportunity to guide primary and secondary preventive initiatives at both individual and community levels. Moreover, this description may give an insight into the pathophysiological mechanisms mediating the development of cardio-metabolic diseases early in life.

  15. Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study

    Science.gov (United States)

    Santos, Cleusa C.; Feitosa, Fabiana G.; Ribeiro, Maria C.; Menge, Paulo; Lira, Izabelle M.

    2017-01-01

    Objective To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. Methods An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15) examination was performed on all infants. Results 14/103 (13.5%) echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus. Conclusions Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant. PMID:28426680

  16. The Relationship between Metabolic Syndrome, Its Components, and Dry Eye: A Cross-Sectional Study.

    Science.gov (United States)

    Erdur, Sevil Karaman; Aydin, Rukiye; Ozsutcu, Mustafa; Olmuscelik, Oktay; Eliacik, Mustafa; Demirci, Goktug; Kocabora, Mehmet Selim

    2017-08-01

    The aim of this study was to evaluate tear osmolarity and tear film function and ocular surface changes in patients with metabolic syndrome. 108 eyes of 64 patients with metabolic syndrome (group 1) and 110 eyes of 55 healthy individuals (group 2) were included in this cross-sectional study. All participants were evaluated using the Ocular Surface Disease Index (OSDI) questionnaire, Schirmer I test, tear film break-up time (TBUT), and tear osmolarity. Main outcome measures were Ocular Surface Disease Index (OSDI) questionnaire, Schirmer I test, tear film break-up time (TBUT), and tear osmolarity values. Tear osmolarity values and OSDI scores were significantly higher in group 1 (314.4 ± 19.1 mOsm and 38.9 ± 1.1, respectively) compared with group 2 (295 ± 14.3 mOsm and 18.69 ± 17.2, respectively) (p = 0.01 for both). The Schirmer test values and TBUT in group 1 (10 ± 3.7 mm and 14.8 ± 3.6 sec, respectively) were significantly lower compared with group 2 (16.8 ± 2.6 mm and 18.1 ± 0.5 sec, respectively) (p syndrome can influence tear osmolarity and tear film function. Patients with metabolic syndrome showed tear hyperosmolarity and tear film dysfunction.

  17. BURNOUT SYNDROME IN SCHOOL PRINCIPAL. AN EXPLORATORY STUDY FROM A ONE-DIMENSIONAL APPROACH

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    Arturo Barraza Macías

    2010-10-01

    Full Text Available This research aims to: a Specify the descriptive profile Burnout Syndrome who have primary school principal, b Establish the extent to which demographic variables influence the level of burnout syndrome reported by primary school principal, and c determine the relationship between the level of job satisfaction and burnout syndrome reported by primary school principal. The theoretical construction of the research object was based on the approach conceptual one-dimensional and the interactive model explanatory. To achieve the stated objectives,  was performed a study exploratory, correlational, cross and not experimental. For the collection of information was applied Shirom Melamed Burnout Measure of a population of 24 directors of elementary education in the of seven and eight school zones located in the city of Surango. The main results are: 1 .- that primary school managers surveyed present a mild level of burnout, 2 .- that the sociodemographic variables studied did not influence the level and 3 .- the variable job satisfaction have a significant negative correlation with level of burnout syndrome.

  18. Metabolic syndrome in Mexican women survivors of breast cancer: a pilot study at a general hospital.

    Science.gov (United States)

    Ortiz-Mendoza, Carlos Manuel; de-la-Fuente-Vera, Tania Angélica; Pérez-Chávez, Ernesto

    2014-01-01

    According to developed countries' studies, in breast cancer survivors there is a high prevalence of metabolic syndrome; however, in Mexico data is lacking about this issue. To explore if metabolic syndrome occurs in Mexican women survivors of breast cancer. At a second-level general hospital, women with breast cancer with a surviving > 2 years were studied. The analysis involved their demographic and anthropometric features, blood pressure measurement, time of surviving, besides fasting blood levels of lipids and glucose. The sample consisted of 100 women; 42% were obese (body mass index > or = 30 kg/m2). The sample's mean age was 60 years with a mean surviving time of 6.5 years. Their mean glucose level was 122 mg/dL and triglycerides 202 mg/dL. There were 33% with blood pressure > or = 130/85mm Hg or diagnosis of hypertension. Fifty-seven percent had glucose > 99 mg/dL or diagnosis of diabetes mellitus, and 58% had triglycerides > 149 mg/dL. Metabolic syndrome occurred in 57% of obese women. Our results suggest that metabolic syndrome occurs in more than 50% of obese Mexican women survivors of breast cancer.

  19. Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.

    Directory of Open Access Journals (Sweden)

    Danielle Di Cavalcanti

    Full Text Available To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP, Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15 examination was performed on all infants.14/103 (13.5% echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.

  20. Atypical case of Reye's syndrome. Usefulness of CT for diagnosis and follow-up study

    Energy Technology Data Exchange (ETDEWEB)

    Maehara, Fumiaki; Goto, Katsuya; Okudera, Toshio; Mitsudome, Akihisa; Hara, Kunio; Shiraishi, Masayuki [Fukuoka Univ. (Japan)

    1982-12-01

    An atypical case of Reye's syndrome was reported with emphasis on usefulness of CT for the diagnosis and follow-up study of this disease. The patient was a 13-month-old girl who had been transferred to our hospital because of status epilepticus, a comatous state and a high temperature. She was diagnosed as having Reye's syndrome according to data of liver function tests, findings in CSF and body CT which revealed swelling of the liver with diminished attenuation value suggesting fatty infiltration. However, there were atypical features in this patient: epileptic seizures since age 5 months, no vomiting at the time of onset and no evidence of brain swelling on CT in acute phase. She was discharged 2 months later with impaired neuropsychological functions of marked degree. When she was 2 year-old, she again went into status epilepticus, was comatous and had a high temperature. She was dead when she arrived at emergency room of our hospital. Autopsy findings revealed features of Reye's syndrome as follows: abundant accumulation of small fat droplets without nuclear displacement in the liver, fatty infiltration in the kidney and myocardium, and mild swelling in the cerebral cortex with marked ventricular dilatation. The possibility of recurrence of Reye's syndrome was discussed based on the clinical and autopsy findings. The value of CT in the diagnosis and the follow-up study of this disease was emphasized.

  1. Subthreshold Conditions as Precursors for Full Syndrome Disorders: A 15-Year Longitudinal Study of Multiple Diagnostic Classes

    Science.gov (United States)

    Shankman, Stewart A.; Lewinsohn, Peter M.; Klein, Daniel N.; Small, Jason W.; Seeley, John R.; Altman, Sarah E.

    2009-01-01

    Background: There has been increasing interest in the distinction between subthreshold and full syndrome disorders and specifically whether subthreshold conditions escalate or predict the onset of full syndrome disorders over time. Most of these studies, however, examined whether a single subthreshold condition escalates into the full syndrome…

  2. Elever med Aspergers Syndrom : En studie om hur den traditionella skolan, respektive specialskolan arbetar med elever som har Aspergers Syndrom.

    OpenAIRE

    Eriksson, Anna-Lena

    2013-01-01

    The purpose of the report was to compare the differences between a special needs school and a more traditional school when it comes to working with children with Aspergers syndrome. Furthermore I wanted to find out the differences in resources when it comes to helping these children. I used interviews as a method to elucidate how the schools work with children with Asperger syndrome. I interviewed teachers and special educational needs teacher from each of the two schools to understand how th...

  3. Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

    Science.gov (United States)

    Huq, Aamira J; Bogwitz, Michael; Gorelik, Alexandra; Winship, Ingrid M; White, Susan M; Trainer, Alison H

    2017-06-01

    Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health-related quality of life (QoL) in individuals with Gorlin syndrome is not well studied. To establish a Victorian cohort of Gorlin syndrome and study the QoL in these individuals. Phenotypic data were obtained by reviewing medical records of individuals attending two major tertiary/quaternary genetic referral centres in Victoria, followed by telephone or face-to-face interviews where possible. QoL information was obtained utilising the AQoL-6D quality of life survey form. The median number of BCC in the 19 individuals studied was 17.5 (interquartile range 3-70). The number of patients with ≥100 BCC in this group was similar to a previously described national cohort (22.2 vs 27% respectively). A total of 58% of referrals to the genetics clinics originated from maxillofacial surgeons and 42% from dermatologists. Individuals with ≥100 BCC had worse median QoL scores compared to those with <100 BCC (36 vs 29, P-value of 0.031). The clinical features in our cohort were congruent with those previously described in Australia. The QoL is adversely correlated with increased BCC burden. © 2017 Royal Australasian College of Physicians.

  4. Study to Evaluate Targeted Management and Syndromic Management in Women Presenting with Abnormal Vaginal Discharge.

    Science.gov (United States)

    Meena, Veena; Bansal, Charu Lata

    2016-10-01

    Vaginal discharge is a commonest complaint among women in reproductive age group. Infective vaginal discharge can be broadly categorized into vaginitis or mucopurulent cervicitis. Vaginitis is predominantly caused by bacterial vaginosis, vaginal candidiasis, vaginal trichomoniasis, etc. Mucopurulent cervicitis is due to chlamydia or gonococcal infection. The targeted management is based on identification of causative organism and targeting the therapy against it, while syndromic management is based on high risk factors's presence. To study the effect of targeted management as compared to syndromic management in achieving a complete cure for abnormal vaginal discharge and to study the microbial flora of women presenting with abnormal vaginal discharge. The study is a randomized control trial conducted at tertiary health care on 200 women who presented with abnormal vaginal discharge, distributed in two groups A and B each consisted of 100 women. Group A underwent laboratory investigations, and treatment was started as soon as reports were available. Group B was given syndromic management based on high risk factors's presence. Both groups were followed up after 2 weeks. The prevalence of various organisms in vaginal discharge was candidiasis 39 %, bacterial vaginosis 28 %, trichomoniasis 5 %, N. gonorrhoeae 5 % and chlamydia 2 % among the 100 women in group A. Response to treatment for vaginitis was 76.3 % in group A, whereas it was 41 % in group B. With cervicitis, 71.4 % women responded to treatment in targeted group as compared to 54 % in syndromic management group. There is a potential disadvantage of syndromic management because of its total reliability on a subjective clinical assessment.

  5. Risk of metabolic syndrome among children living in metropolitan Kuala Lumpur: a case control study.

    Science.gov (United States)

    Wee, Bee S; Poh, Bee K; Bulgiba, Awang; Ismail, Mohd N; Ruzita, Abdul T; Hills, Andrew P

    2011-05-18

    With the increasing prevalence of childhood obesity, the metabolic syndrome has been studied among children in many countries but not in Malaysia. Hence, this study aimed to compare metabolic risk factors between overweight/obese and normal weight children and to determine the influence of gender and ethnicity on the metabolic syndrome among school children aged 9-12 years in Kuala Lumpur and its metropolitan suburbs. A case control study was conducted among 402 children, comprising 193 normal-weight and 209 overweight/obese. Weight, height, waist circumference (WC) and body composition were measured, and WHO (2007) growth reference was used to categorise children into the two weight groups. Blood pressure (BP) was taken, and blood was drawn after an overnight fast to determine fasting blood glucose (FBG) and full lipid profile, including triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC). International Diabetes Federation (2007) criteria for children were used to identify metabolic syndrome. Participants comprised 60.9% (n = 245) Malay, 30.9% (n = 124) Chinese and 8.2% (n = 33) Indian. Overweight/obese children showed significantly poorer biochemical profile, higher body fat percentage and anthropometric characteristics compared to the normal-weight group. Among the metabolic risk factors, WC ≥90th percentile was found to have the highest odds (OR = 189.0; 95%CI 70.8, 504.8), followed by HDL-C≤1.03 mmol/L (OR = 5.0; 95%CI 2.4, 11.1) and high BP (OR = 4.2; 95%CI 1.3, 18.7). Metabolic syndrome was found in 5.3% of the overweight/obese children but none of the normal-weight children (p < 0.01). Overweight/obese children had higher odds (OR = 16.3; 95%CI 2.2, 461.1) of developing the metabolic syndrome compared to normal-weight children. Binary logistic regression showed no significant association between age, gender and family history of communicable diseases with the metabolic

  6. Understanding the Basis of Auriculocondylar Syndrome: Insights From Human and Mouse Genetic Studies

    Science.gov (United States)

    Clouthier, David E.; Passos Bueno, Maria Rita; Tavares, Andre L.P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T.

    2014-01-01

    Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expectations of facial shape. One such syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and mandible development. Affected structures arise from cranial neural crest cells, a population of cells in the embryo that reside in the pharyngeal arches and give rise to most of the bone, cartilage and connective tissue of the face. Recent studies have found that most cases of ACS arise from defects in signaling molecules associated with the endothelin signaling pathway. Disruption of this signaling pathway in both mouse and zebrafish results in loss of identity of neural crest cells of the mandibular portion of the first pharyngeal arch and the subsequent repatterning of these cells, leading to homeosis of lower jaw structures into more maxillary-like structures. These findings illustrate the importance of endothelin signaling in normal human craniofacial development and illustrate how clinical and basic science approaches can coalesce to improve our understanding of the genetic basis of human birth syndromes. Further, understanding the genetic basis for ACS that lies outside of known endothelin signaling components may help elucidate unknown aspects critical to the establishment of neural crest cell patterning during facial morphogenesis. PMID:24123988

  7. [Restrictions in participation in women with fibromyalgia syndrome. An explorative pilot study].

    Science.gov (United States)

    Ullrich, A; Farin, E; Jäckel, W H

    2012-02-01

    Patients with fibromyalgia syndrome are often severely restricted in their ability to participate in everyday activities and in social interaction. The aim of this study was to document female patients' subjectively-perceived limitations in participation and to develop material to generate items for a specific participation questionnaire. We collected data from 8 groups of women with fibromyalgia syndrome (n=38), and developed a hierarchical system of categories using the patients' statements (ATLAS.ti; Qualitative Data Analysis). Our final group of categories contains 10 superordinate categories. Women with fibromyalgia syndrome often describe restrictions in their relationships with other people, and the impaired ability to engage in social and leisure activities. They speak of difficulties at the workplace, while doing housework, and complain about a lack of understanding and awareness on the part of the general public. Fibromyalgia syndrome patients admit to be extremely impaired in a variety of social roles. Their statements have enabled us to develop a questionnaire that reflects the range of factors restricting participation from the patient's perspective.

  8. Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

    Science.gov (United States)

    Rohayem, Julia; Ehlers, Christian; Wiedemann, Bärbel; Holl, Reinhard; Oexle, Konrad; Kordonouri, Olga; Salzano, Giuseppina; Meissner, Thomas; Burger, Walter; Schober, Edith; Huebner, Angela; Lee-Kirsch, Min Ae

    2011-07-01

    To describe the diabetes phenotype in Wolfram syndrome compared with type 1 diabetes, to investigate the effect of glycemic control on the neurodegenerative process, and to assess the genotype-phenotype correlation. The clinical data of 50 patients with Wolfram syndrome-related diabetes (WSD) were reviewed and compared with the data of 24,164 patients with type 1 diabetes. Patients with a mean HbA1c during childhood and adolescence of ≤7.5 and >7.5% were compared with respect to the occurrence of additional Wolfram syndrome symptoms. The wolframin (WFS1) gene was screened for mutations in 39 patients. WFS1 genotypes were examined for correlation with age at onset of diabetes. WSD was diagnosed earlier than type 1 diabetes (5.4±3.8 vs. 7.9±4.2 years; P7.5% (P=0.031). Thirteen novel WSF1 mutations were identified. Predicted functional consequence of WFS1 mutations correlated with age at WSD onset (P=0.028). Endoplasmic reticulum stress-mediated decline of β-cells in WSD occurs earlier in life than autoimmune-mediated β-cell destruction in type 1 diabetes. This study establishes a role for WFS1 in determining the age at onset of diabetes in Wolfram syndrome and identifies glucose toxicity as an accelerating feature in the progression of disease.

  9. Antipsychotic Medications and Risk of Acute Coronary Syndrome in Schizophrenia: A Nested Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Hsing-Cheng Liu

    Full Text Available This study assessed the risk of developing acute coronary syndrome requiring hospitalization in association with the use of certain antipsychotic medications in schizophrenia patients.A nationwide cohort of 31,177 inpatients with schizophrenia between the ages of 18 and 65 years whose records were enrolled in the National Health Insurance Research Database in Taiwan from 2000 to 2008 and were studied after encrypting the identifications. Cases (n = 147 were patients with subsequent acute coronary syndrome requiring hospitalization after their first psychiatric admission. Based on a nested case-control design, each case was matched with 20 controls for age, sex and the year of first psychiatric admission using risk-set sampling. The effects of antipsychotic agents on the development of acute coronary syndrome were assessed using multiple conditional logistic regression and sensitivity analyses to confirm any association.We found that current use of aripiprazole (adjusted risk ratio [RR] = 3.68, 95% CI: 1.27-10.64, p<0.05 and chlorpromazine (adjusted RR = 2.96, 95% CI: 1.40-6.24, p<0.001 were associated with a dose-dependent increase in the risk of developing acute coronary syndrome. Although haloperidol was associated with an increased risk (adjusted RR = 2.03, 95% CI: 1.20-3.44, p<0.01, there was no clear dose-dependent relationship. These three antipsychotic agents were also associated with an increased risk in the first 30 days of use, and the risk decreased as the duration of therapy increased. Sensitivity analyses using propensity score-adjusted modeling showed that the results were similar to those of multiple regression analysis.Patients with schizophrenia who received aripiprazole, chlorpromazine, or haloperidol could have a potentially elevated risk of developing acute coronary syndrome, particularly at the start of therapy.

  10. Physical growth, puberty and hormones in adolescents with Nodding Syndrome; a pilot study.

    Science.gov (United States)

    Piloya-Were, Theresa; Odongkara-Mpora, Beatrice; Namusoke, Hanifa; Idro, Richard

    2014-11-28

    Nodding syndrome is an epidemic symptomatic generalized epilepsy syndrome of unknown cause in Eastern Africa. Some patients have extreme short stature. We hypothesized that growth failure in nodding syndrome is associated with specific endocrine dysfunctions. In this pilot study, we examined the relationship between serum hormone levels and stature, bone age and sexual development. We recruited ten consecutive children, 13 years or older, with World Health Organization defined nodding syndrome and assessed physical growth, bone age, development of secondary sexual characteristics and serum hormone levels. Two children with incomplete results were excluded. Of the eight remaining, two had severe stunting (height for age Z [HAZ] scorebone age was delayed by a median 3(range 0-4) years. Serum growth hormone levels were normal in all eight but the two patients with severe stunting and one with moderate stunting had low levels of Somatomedin C (Insulin like Growth Factor [IGF1]) and/or IGF binding protein 3 (IGFBP3), mediators of growth hormone function. A linear relationship was observed between serum IGF1 level and HAZ score. With the exception of one child, all were either pre-pubertal or in early puberty (Tanner stages 1 and 2) and in the seven, levels of the gonadotrophins (luteinising and follicle stimulating hormone) and the sex hormones (testosterone/oestrogen) were all within pre-pubertal ranges or ranges of early puberty. Thyroid function, prolactin, adrenal, and parathyroid hormone levels were all normal. Patients with nodding syndrome may have dysfunctions in the pituitary growth hormone and pituitary gonadal axes that manifest as stunted growth, delayed bone age and puberty. Studies are required to determine if such endocrine dysfunction is a primary manifestation of the disease or a secondary consequence of chronic ill health and malnutrition and if so, whether targeted interventions can improve outcome.

  11. 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 ...

  12. Emotional conflict processing in adolescent chronic fatigue syndrome: A pilot study using functional magnetic resonance imaging

    OpenAIRE

    Bakke, Laura A Wortinger; Endestad, Tor; Melinder, Annika Maria D; Øie, Merete Glenne; Sulheim, Dag; Fagermoen, Frode Even; Wyller, Vegard Bruun

    2017-01-01

    Introduction: Studies of neurocognition suggest that abnormalities in cognitive control contribute to the pathophysiology of chronic fatigue syndrome (CFS) in adolescents, yet these abnormalities remain poorly understood at the neurobiological level. Reports indicate that adolescents with CFS are significantly impaired in conflict processing, a primary element of cognitive control. Method: In this study, we examine whether emotional conflict processing is altered on behavioral and neural leve...

  13. The diagnostic efficacy of clinical findings and electrophysiological studies in carpal tunnel syndrome

    OpenAIRE

    Buyukkoyuncu Pekel, Nilufer; Nar Senol, Pelin; Yildiz, Demet; Kilic, Ahmet Kasim; Kamaci Sener, Deniz; Seferoglu, Meral; Gunes, Aygul

    2017-01-01

    Objective. The aim of the study was to examine the relation between clinical findings, neurological examination and electrophysiological studies in diagnosing carpal tunnel syndrome (CTS) and share our institutional experience in patients with CTS. Methods. Patients presenting with complaints of pain, paresthesia, and weakness in hands who diagnosed CTS between 2014 and 2015 were examined retrospectively. Demographic characteristics, clinical and neurological examination findings and electrod...

  14. Prevalence and risk factors for Sick Building Syndrome among Italian correctional officers: A pilot study

    OpenAIRE

    Francesco Chirico; Giuseppe Ferrari; Giuseppe Taino; Enrico Oddone; Ines Giorgi; Marcello Imbriani

    2017-01-01

    Introduction: Over the past two decades, numerous studies on indoor air and the Sick Building Syndrome (SBS) have been conducted, mostly in office environments. However, there is little knowledge about SBS in police officers. This study was aimed to fill this gap. Methods: A cross-sectional questionnaire survey was conducted in 2016 at the Triveneto Penitentiary Center, Northern Italy. Chi-square was used to test the difference of prevalence between office workers (OWs) and correctional of...

  15. Metabolic and cardiovascular genes in polycystic ovary syndrome: A candidate-wide association study (CWAS)

    OpenAIRE

    Jones, Michelle R.; Chua, Angela K.; Mengesha, Emebet A.; Taylor, Kent D.; Chen, Yii-Der I.; Li, Xiaohui; Krauss, Ronald M.; Rotter, Jerome I.; Legro, Richard S.; Azziz, Ricardo; Goodarzi, Mark O.

    2011-01-01

    The role of metabolic disturbance in polycystic ovary syndrome (PCOS) has been well established, with insulin resistance and the resulting compensatory hyperinsulinemia thought to promote hyperandrogenemia. Genome-wide association studies (GWAS) have established a large number of loci for metabolic conditions such as type 2 diabetes and obesity. A subset of these loci has been investigated for a role in PCOS; these studies generally have not revealed a confirmed role for these loci in PCOS ri...

  16. A TWIN STUDY OF SCHIZOAFFECTIVE-MANIA, SCHIZOAFFECTIVE-DEPRESSION AND OTHER PSYCHOTIC SYNDROMES

    OpenAIRE

    Cardno, Alastair G; Rijsdijk, Frühling V; West, Robert M; Gottesman, Irving I; Craddock, Nick; Murray, Robin M; McGuffin, Peter

    2011-01-01

    The nosological status of schizoaffective disorders remains controversial. Twin studies are potentially valuable for investigating relationships between schizoaffective-mania, schizoaffective-depression and other psychotic syndromes, but no such study has yet been reported. We ascertained 224 probandwise twin pairs (106 monozygotic, 118 same-sex dizygotic), where probands had psychotic or manic symptoms, from the Maudsley Twin Register in London (1948–1993). We investigated Research Diagnosti...

  17. Female Gender Scheme is Disturbed by Polycystic Ovary Syndrome: A Qualitative Study From Iran

    OpenAIRE

    Nasiri Amiri, Fatemeh; Ramezani Tehrani, Fahimeh; Simbar, Masoumeh; Mohammadpour Thamtan, Reza Ali; Shiva, Niloofar

    2014-01-01

    Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting up to one in every five women of reproductive age. The majority of researches on PCOS focus on its biomedical aspects, often overlooking and neglecting women’s own perceptions and experiences. Objectives: This study aimed to explore women’s perception and experiences that influence their personal gender role. Patients and Methods: This research is a qualitative study by conventional content analysis. Semi...

  18. Increased risk of epilepsy in children with Tourette syndrome: A population-based case-control study.

    Science.gov (United States)

    Wong, Lee Chin; Huang, Hui-Ling; Weng, Wen-Chin; Jong, Yuh-Jyh; Yin, Yun-Ju; Chen, Hong-An; Lee, Wang-Tso; Ho, Shinn-Ying

    2016-01-01

    The association between epilepsy and Tourette syndrome has rarely been investigated. In this retrospective cohort study, we analyzed a dataset of 1,000,000 randomly sampled individuals from the Taiwan National Health Insurance Research Database to determine the risk of epilepsy in children with Tourette syndrome. The study cohort consisted of 1062 patients with Tourette syndrome aged ≤ 18 years, and the control group consisted of three times the number of age- and sex-matched patients without Tourette syndrome, who were insurants, from the same database during the same period. The Tourette syndrome group had an 18.38-fold increased risk of epilepsy than the control group [hazard ratio=18.38, 95% confidence interval (CI)=8.26-40.92; PTourette syndrome group with comorbidities remained high (hazard ratio=16.27, 95% CI=6.26-18.46; PTourette syndrome is associated with a higher risk of epilepsy. A close follow-up of children with Tourette syndrome for the development of epilepsy is warranted. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Diabetes risk in women with gestational diabetes mellitus and a history of polycystic ovary syndrome: a retrospective cohort study.

    Science.gov (United States)

    Bond, R; Pace, R; Rahme, E; Dasgupta, K

    2017-12-01

    To investigate whether polycystic ovary syndrome further increases postpartum diabetes risk in women with gestational diabetes mellitus and to explore relationships between polycystic ovary syndrome and incident diabetes in women who do not develop gestational diabetes. This retrospective cohort study (Quebec Physician Services Claims; Hospitalization Discharge Databases; Birth and Death registries) included 34 686 women with gestational diabetes during pregnancy (live birth), matched 1:1 to women without gestational diabetes by age group, year of delivery and health region. Diagnostic codes were used to define polycystic ovary syndrome and incident diabetes. Cox regression models were used to examine associations between polycystic ovary syndrome and incident diabetes. Polycystic ovary syndrome was present in 1.5% of women with gestational diabetes and 1.2% of women without gestational diabetes. There were more younger mothers and mothers who were not of white European ancestry among those with polycystic ovary syndrome. Those with polycystic ovary syndrome more often had a comorbidity and a lower proportion had a previous pregnancy. Polycystic ovary syndrome was associated with incident diabetes (hazard ratio 1.52; 95% CI 1.27, 1.82) among women with gestational diabetes. No conclusive associations between polycystic ovary syndrome and diabetes were identified (hazard ratio 0.94; 95% CI 0.39, 2.27) in women without gestational diabetes. In women with gestational diabetes, polycystic ovary syndrome confers additional risk for incident diabetes postpartum. In women without gestational diabetes, an association between PCOS and incident diabetes was not observed. Given the already elevated risk of diabetes in women with a history of gestational diabetes, a history of both polycystic ovary syndrome and gestational diabetes signal a critical need for diabetes surveillance and prevention. © 2017 Diabetes UK.

  20. A RETROSPECTIVE STUDY ON CLINICAL PRESENTATION OF STEROID SENSITIVE NEPHROTIC SYNDROME

    Directory of Open Access Journals (Sweden)

    Sosamma M. M

    2016-09-01

    Full Text Available BACKGROUND Nephrotic syndrome is a disease affecting the renal system. Most paediatricians will invariably encounter children with nephrotic syndrome in their clinic. The disease is characterised by the presence of oedema, persistent heavy proteinuria, hypoproteinaemia and hypercholesterolaemia. The disease is influenced by factors like age, geography, race and also has certain genetic influence related to HLA (DR7, B12, B8. In children, minimal change nephrotic syndrome is the most common variant of primary nephrotic syndrome. It accounts to more than eighty per cent of the cases seen children under seven years whereas it has a chance of fifty per cent in the age group of seven to sixteen years. Males are affected two times higher compared to females. The parents usually bring the child to the hospital with signs of oedema. Usually, the child recovers with treatment, but in some cases, there can be relapse. MATERIALS AND METHODS  The study was conducted in the Department of Paediatrics, Travancore Medical College, Kollam.  The study was done from January 2015 to January 2016.  Sixty cases were identified and were chosen for the study. INCLUSION CRITERIA 1. Steroid sensitive cases of nephrotic syndrome. 2. Age less than twelve years. 3. Admitted cases. EXCLUSION CRITERIA 1. Steroid-resistant and steroid-dependent cases. 2. Age more than twelve years. 3. Outpatient cases. RESULTS Out of the sixty cases studied, forty one cases belonged to male sex and nineteen cases belonged to female sex. Based on the age group, maximum number of cases belonged to age group four to eight years, which amounted to thirty four cases followed by age group eight to twelve years, which amounted to eighteen cases. Age group zero to four years had the least number of cases, which amounted to eight in number. Based on clinical signs and symptoms, fifty five cases presented with oedema either periorbital, scrotal or pedal oedema. Ten cases presented with fever

  1. A Study of the Effect of Age of Onset of Treatment on the Observed Development of Down's Syndrome Babies.

    Science.gov (United States)

    Sanz, M. T.; Menendez, J.

    1996-01-01

    Studied how early treatment affected the development of a sample of 30 Down syndrome babies incorporated into the study at different ages. Found that development quotients descended significantly at 18 months of age as the period in treatment shortened. (AJH)

  2. A cross-cultural study of the structure of comorbidity among common psychopathological syndromes in the general health care setting

    NARCIS (Netherlands)

    Krueger, RF; Chentsova-Dutton, YE; Markon, KE; Goldberg, D; Ormel, J

    This study presents analyses of 7 common psychopathological syndromes in the World Health Organization (WHO) Collaborative Study of Psychological Problems in General Health Care (T. B. Ustun & N. Sartorius, 1995). Data on depression, somatization, hypochondriasis, neurasthenia, anxious worry,

  3. GDNF gene is associated with tourette syndrome in a family study.

    Science.gov (United States)

    Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A; King, Robert A; Heiman, Gary A; Mir, Pablo

    2015-07-01

    Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). The polymorphism rs3096140 in glial cell line-derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10(-4) ). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. © 2015 International Parkinson and Movement Disorder Society.

  4. The Etiology of Vaginal Discharge Syndrome in Zimbabwe Results from the Zimbabwe STI Etiology Study.

    Science.gov (United States)

    Chirenje, Z Mike; Dhibi, Nicholas; Handsfield, H Hunter; Gonese, Elizabeth; Barr, Beth Tippett; Gwanzura, Lovemore; Latif, Ahmed S; Maseko, Dumisili Venessa; Kularatne, Ranmini S; Tshimanga, Mufuta; Kilmarx, Peter H; Machiha, Anna; Mugurungi, Owen; Rietmeijer, Cornelis A

    2017-11-29

    Symptomatic vaginal discharge is a common gynecological condition managed syndromically in most developing countries. In Zimbabwe, women presenting with symptomatic vaginal discharge are treated with empirical regimens that commonly cover both sexually transmitted infections (STI) and reproductive tract infections, typically including a combination of an intramuscular injection of kanamycin, and oral doxycycline and metronidazole regimens. This study was conducted to determine the current etiology of symptomatic vaginal discharge and assess adequacy of current syndromic management guidelines. We enrolled 200 women with symptomatic vaginal discharge presenting at 6 STI clinics in Zimbabwe. Microscopy was used to detect bacterial vaginosis and yeast infection. Nucleic acid amplifications tests were used to detect Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis and Mycoplasma genitalium. In addition, serologic testing was performed to detect HIV infection. Of the 200 women, 146 (73%) had an etiology detected, including bacterial vaginosis (24.7%); N. gonorrhoeae (24.0%); yeast infection (20.7%); T. vaginalis (19.0%); C. trachomatis (14.0%) and M. genitalium (7.0%). Among women with STIs (N=90), 62 (68.9%) had a single infection, 18 (20.0%) had a dual infection and 10 (11.1%) had three infections.Of 158 women who consented to HIV testing, 64 (40.5%) were HIV infected.The syndromic management regimen covered 115 (57.5%) of the women in the sample who had gonorrhea, chlamydia, M. genitalium, or bacterial vaginosis, while 85 (42.5%) of women were treated without such diagnosis. Among women presenting with symptomatic vaginal discharge, bacterial vaginosis was the most common etiology and gonorrhea was the most frequently detected STI. The current syndromic management algorithm is suboptimal for coverage of women presenting with symptomatic vaginal discharge; addition of point of care testing could compliment the effectiveness of the syndromic approach.

  5. GDNF Gene Is Associated With Tourette Syndrome in a Family Study

    Science.gov (United States)

    Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A.; King, Robert A.; Heiman, Gary A.; Mir, Pablo

    2016-01-01

    Background Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. Methods We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). Results The polymorphism rs3096140 in glial cell line–derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10−4). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. Conclusions As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. PMID:26096985

  6. A clinical study of mentally retarded children with fragile X syndrome inSaudi Arabia

    International Nuclear Information System (INIS)

    Al-Husain, M.; Salih, Mustafa A.M.; Zaki, Osama K.; Al-Othman, L.; Al-Nasser, Mohammed N.

    2000-01-01

    Studies on fragile X syndrome are scarce in Saudi Arabia and othercountries of the Arabian Peninsula. The few studies previously done haveeither been in the form of case reports or those performed oninstitutionalized mentally retarded patients. The aim of this study was todetermine the prevalence of fragile X syndrome among cases with mentalretardation who have been referred to the pediatric neurology clinics of KingKhalid University Hospital (KKUH) in Riyadh. Cytogenetic studies wereperformed in 94 cases that were referred to the pediatric neurology clinicsof KKUH because of mental retardation and/or delayed milestones ofdevelopment, from July 1995 to December 1997. Six male probands (6.4%) showedthe classic fragile X chromosome and another six (including a four year oldgirl) were detected, following extension of the cytogenetic studies to all 32first-degree relatives. Affection of more than one sibling was ascertained infour families. One family had four brothers with fragile X syndrome, whereasanother formed part of a large kindred with twelve males and five females whowere mentally retarded. A clinical, physical and psychological screeningchecklist was applied to the eleven affected males. Large testicular size,long face and short attention span were the most frequent features and eachwas detected in nine patients (82%). Pes planus and history of delayed speechwere found in eight patients (73%). The study showed that the fragile Xsyndrome clinical screening checklist has been applied in other populationsmight equally valuable and applicable among the population of Saudi Arabia.However, the presence of pale blue eyes can be excluded and more weight givento positive family history of mental to the most common clinical diagnosticfeatures of fragile X syndrome. (author)

  7. Identification and Characterization of Prodromal Risk Syndromes in Young Adolescents in the Community: A Population-Based Clinical Interview Study.

    LENUS (Irish Health Repository)

    2012-02-01

    While a great deal of research has been conducted on prodromal risk syndromes in relation to help-seeking individuals who present to the clinic, there is a lack of research on prodromal risk syndromes in the general population. The current study aimed first to establish whether prodromal risk syndromes could be detected in non-help-seeking community-based adolescents and secondly to characterize this group in terms of Axis-1 psychopathology and general functioning. We conducted in-depth clinical interviews with a population sample of 212 school-going adolescents in order to assess for prodromal risk syndromes, Axis-1 psychopathology, and global (social\\/occupational) functioning. Between 0.9% and 8% of the community sample met criteria for a risk syndrome, depending on varying disability criteria. The risk syndrome group had a higher prevalence of co-occurring nonpsychotic Axis-1 psychiatric disorders (OR = 4.77, 95% CI = 1.81-12.52; P < .01) and poorer global functioning (F = 24.5, df = 1, P < .0001) compared with controls. Individuals in the community who fulfill criteria for prodromal risk syndromes demonstrate strong similarities with clinically presenting risk syndrome patients not just in terms of psychotic symptom criteria but also in terms of co-occurring psychopathology and global functioning.

  8. Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings.

    Science.gov (United States)

    Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Almqvist, Catarina; Serlachius, Eva; Ludvigsson, Jonas F

    2016-07-04

    To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through Swedish national registries. Individuals with EDS (n = 1,771) were matched with comparison individuals (n = 17,710). Further, siblings to individuals with EDS who did not have an EDS diagnosis themselves were compared with matched comparison siblings. Using conditional logistic regression, risk of autism spectrum disorder (ASD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), depression, attempted suicide, suicide and schizophrenia were estimated. The same analyses were conducted in individuals with hypermobility syndrome (n = 10,019) and their siblings. EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2-10.7; bipolar disorder: RR 2.7, CI 1.5-4.7; ADHD: RR 5.6, CI 4.2-7.4; depression: RR 3.4, 95 % CI 2.9-4.1; and attempted suicide: RR 2.1, 95 % CI 1.7-2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4-3.3; depression: RR 1.5, 95 % CI 1.1-1.8; and suicide attempt: RR 1.8, 95 % CI 1.4-2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings. Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders.

  9. A regenerable potassium and phosphate sorbent system to enhance dialysis efficacy and device portability: an in vitro study.

    Science.gov (United States)

    Wester, Maarten; Simonis, Frank; Gerritsen, Karin G; Boer, Walther H; Wodzig, Will K; Kooman, Jeroen P; Joles, Jaap A

    2013-09-01

    Continuous dialysis could provide benefit by constant removal of potassium and phosphate. This study investigates the suitability of specific potassium and phosphate sorbents for incorporation in an extracorporeal device by capacity and regenerability testing. Capacity testing was performed in uraemic plasma. Regenerability was tested for potassium sorbents, with adsorption based on cationic exchange for sodium, with 0.1 M and 1.0 M NaCl. To regenerate phosphate sorbents, with adsorption based on anionic exchange, 0.1 M and 1.0 M NaHCO3 and NaOH were used. Subsequently, sodium polystyrene divinylbenzene sulphonate (RES-A) and iron oxide hydroxide (FeOOH) beads were incorporated in a cartridge for testing in bovine blood using a recirculating blood circuit and a dialysis circuit separated by a high-flux dialyzer (dynamic setup). Preloading was tested to assess whether this could limit calcium and magnesium adsorption. In the batch-binding assays, zirconium phosphate most potently adsorbed potassium (0.44 ± 0.05 mmol/g) and RES-A was the best regenerable potassium sorbent (92.9 ± 5.7% with 0.1 M NaCl). Zirconium oxide hydroxide (ZIR-hydr) most potently adsorbed phosphate (0.23 ± 0.05 mmol/g) and the polymeric amine sevelamer carbonate was the best regenerable sorbent (85.7 ± 5.2% with 0.1 M NaHCO3). In the dynamic setup, a potassium adsorption of 10.72 ± 2.06 mmol in 3 h was achieved using 111 g of RES-A and a phosphate adsorption of 4.73 ± 0.53 mmol in 3 h using 55 g of FeOOH. Calcium and magnesium preloading was shown to reduce the net adsorption in 3 h from 3.57 ± 0.91 to -0.29 ± 1.85 and 1.02 ± 0.05 to -0.31 ± 0.18 mmol, respectively. RES-A and FeOOH are suitable, regenerizable sorbents for potassium and phosphate removal in dialysate regeneration. Use of zirconium carbonate and ZIR-hydr may further increase phosphate adsorption, but may compromise sorbent regenerability. Use of polymeric amines for phosphate adsorption may enhance sorbent

  10. Genome-wide association study of periweaning failure-to-thrive syndrome (PFTS) in pigs.

    Science.gov (United States)

    Zanella, R; Morés, N; Morés, M A Z; Peixoto, J O; Zanella, E L; Ciacci-Zanella, J R; Ibelli, A M G; Gava, D; Cantão, M E; Ledur, M C

    2016-06-25

    Porcine periweaning-failure-to-thrive syndrome (PFTS) is a condition that affects newly weaned piglets. It is characterised by a progressive debilitation leading to death, in the absence of infectious, nutritional, management or environmental factors. In this study, we present the first report of PFTS in South America and the results of a genome-wide association study to identify the genetic markers associated with the appearance of this condition in a crossbred swine population. Four chromosomal regions were associated with PFTS predisposition, one located on SSCX, one on SSC8, and the two other regions on SSC14. Regions on SSC8 and SSC14 harbour important functional candidate genes involved in human depression and might have an important role in PFTS. Our findings contribute to the increasing knowledge about this syndrome, which has been investigated since 2007, and to the identification of the aetiology of this disease. British Veterinary Association.

  11. Effect of Dance Exercise on Cognitive Function in Elderly Patients with Metabolic Syndrome: A Pilot Study

    Science.gov (United States)

    Kim, Se-Hong; Kim, Minjeong; Ahn, Yu-Bae; Lim, Hyun-Kook; Kang, Sung-Goo; Cho, Jung-hyoun; Park, Seo-Jin; Song, Sang-Wook

    2011-01-01

    Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group). The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants using the Korean version of the Consortium to Establish a Registry for Alzheimer’s disease (CERAD-K). Repeated-measures ANCOVA was used to assess the effect of dance exercise on cognitive function and cardiometabolic risk factors. Compared with the control group, the exercise group significantly improved in verbal fluency (p = 0.048), word list delayed recall (p = 0.038), word list recognition (p = 0.007), and total CERAD-K score (p = 0.037). However, no significance difference was found in body mass index, blood pressure, waist circumference, fasting plasma glucose, triglyceride, and HDL cholesterol between groups over the 6-month period. In the present study, six months of dance exercise improved cognitive function in older adults with metabolic syndrome. Thus, dance exercise may reduce the risk for cognitive disorders in elderly people with metabolic syndrome. Key points Metabolic syndrome (MS) is associated with an increased risk of cognitive impairment. Aerobic exercise improves cognitive function in elderly people and contributes to the prevention of degenerative neurological disease and brain damage. Dance sport is a form of aerobic exercise that has the additional benefits of stimulating the emotions, promoting social interaction, and exposing subjects to acoustic stimulation and music. In the present study, dance exercise for a 6-month period improved cognitive function in older adults with MS. In particular, positive effects were observed in verbal fluency, word

  12. Effect of dance exercise on cognitive function in elderly patients with metabolic syndrome: a pilot study.

    Science.gov (United States)

    Kim, Se-Hong; Kim, Minjeong; Ahn, Yu-Bae; Lim, Hyun-Kook; Kang, Sung-Goo; Cho, Jung-Hyoun; Park, Seo-Jin; Song, Sang-Wook

    2011-01-01

    Metabolic syndrome is associated with an increased risk of cognitive impairment. The purpose of this prospective pilot study was to examine the effects of dance exercise on cognitive function in elderly patients with metabolic syndrome. The participants included 38 elderly metabolic syndrome patients with normal cognitive function (26 exercise group and 12 control group). The exercise group performed dance exercise twice a week for 6 months. Cognitive function was assessed in all participants using the Korean version of the Consortium to Establish a Registry for Alzheimer's disease (CERAD-K). Repeated-measures ANCOVA was used to assess the effect of dance exercise on cognitive function and cardiometabolic risk factors. Compared with the control group, the exercise group significantly improved in verbal fluency (p = 0.048), word list delayed recall (p = 0.038), word list recognition (p = 0.007), and total CERAD-K score (p = 0.037). However, no significance difference was found in body mass index, blood pressure, waist circumference, fasting plasma glucose, triglyceride, and HDL cholesterol between groups over the 6-month period. In the present study, six months of dance exercise improved cognitive function in older adults with metabolic syndrome. Thus, dance exercise may reduce the risk for cognitive disorders in elderly people with metabolic syndrome. Key pointsMetabolic syndrome (MS) is associated with an increased risk of cognitive impairment.Aerobic exercise improves cognitive function in elderly people and contributes to the prevention of degenerative neurological disease and brain damage. Dance sport is a form of aerobic exercise that has the additional benefits of stimulating the emotions, promoting social interaction, and exposing subjects to acoustic stimulation and music.In the present study, dance exercise for a 6-month period improved cognitive function in older adults with MS. In particular, positive effects were observed in verbal fluency, word list

  13. Metabolic Syndrome Prevalence and Associations in a Bariatric Surgery Cohort from the Longitudinal Assessment of Bariatric Surgery-2 Study

    Science.gov (United States)

    Selzer, Faith; Smith, Mark D.; Berk, Paul D.; Courcoulas, Anita P.; Inabnet, William B.; King, Wendy C.; Pender, John; Pomp, Alfons; Raum, William J.; Schrope, Beth; Steffen, Kristine J.; Wolfe, Bruce M.; Patterson, Emma J.

    2014-01-01

    Abstract Background: Metabolic syndrome is associated with higher risk for cardiovascular disease, sleep apnea, and nonalcoholic steatohepatitis, all common conditions in patients referred for bariatric surgery, and it may predict early postoperative complications. The objective of this study was to determine the prevalence of metabolic syndrome, defined using updated National Cholesterol Education Program criteria, in adults undergoing bariatric surgery and compare the prevalence of baseline co-morbid conditions and select operative and 30-day postoperative outcomes by metabolic syndrome status. Methods: Complete metabolic syndrome data were available for 2275 of 2458 participants enrolled in the Longitudinal Assessment of Bariatric Surgery-2 (LABS-2), an observational cohort study designed to evaluate long-term safety and efficacy of bariatric surgery in obese adults. Results: The prevalence of metabolic syndrome was 79.9%. Compared to those without metabolic syndrome, those with metabolic syndrome were significantly more likely to be men, to have a higher prevalence of diabetes and prior cardiac events, to have enlarged livers and higher median levels of liver enzymes, a history of sleep apnea, and a longer length of stay after surgery following laparoscopic Roux-en-Y gastric bypass (RYGB) and gastric sleeves but not open RYGB or laparoscopic adjustable gastric banding. Metabolic syndrome status was not significantly related to duration of surgery or rates of composite end points of intraoperative events and 30-day major adverse surgical outcomes. Conclusions: Nearly four in five participants undergoing bariatric surgery presented with metabolic syndrome. Establishing a diagnosis of metabolic syndrome in bariatric surgery patients may identify a high-risk patient profile, but does not in itself confer a higher risk for short-term adverse postsurgery outcomes. PMID:24380645

  14. The relationship of Asperger’s syndrome to autism: a preliminary EEG coherence study

    OpenAIRE

    Duffy, Frank H; Shankardass, Aditi; McAnulty, Gloria B; Als, Heidelise

    2013-01-01

    Background: It has long been debated whether Asperger’s Syndrome (ASP) should be considered part of the Autism Spectrum Disorders (ASD) or whether it constitutes a unique entity. The Diagnostic and Statistical Manual, fourth edition (DSM-IV) differentiated ASP from high functioning autism. However, the new DSM-5 umbrellas ASP within ASD, thus eliminating the ASP diagnosis. To date, no clear biomarkers have reliably distinguished ASP and ASD populations. This study uses EEG coherence, a measur...

  15. Periodontal conditions in patients with Marfan syndrome ? a multicenter case control study

    OpenAIRE

    Staufenbiel, Ingmar; Hauschild, Christian; Kahl-Nieke, B?rbel; Vahle-Hinz, Eva; von Kodolitsch, Yskert; Berner, Maike; Bauss, Oskar; Geurtsen, Werner; Rahman, Alexander

    2013-01-01

    Background Marfan syndrome (MFS) is a disorder of the connective tissues. Alterations of the elastic fibers may manifest in different tissues especially in the skeletal, cardiovascular and ocular system. Oral manifestations like orthodontic or skeletal anomalies and fragility of the temporomandibular joint have been well described by various authors. However, no data are available regarding a possible periodontal involvement of MFS. Hence, the aim of the present study was to investigate for t...

  16. Correlation Between Metabolic Syndrome, Periodontitis and Reactive Oxygen Species Production. A Pilot Study

    OpenAIRE

    Patini, Romeo; Gallenzi, Patrizia; Spagnuolo, Gianrico; Cordaro, Massimo; Cantiani, Monica; Amalfitano, Adriana; Arcovito, Alessandro; Callà, Cinzia; Mingrone, Gertrude; Nocca, Giuseppina

    2017-01-01

    Background and Objective: Metabolic syndrome (MetS) is associated with an increased risk of periodontitis even if the mechanism is unknown. Since both MetS and periodontitis are characterized by an alteration of inflammation status, the aim of this pilot study was to determine if differences in ROS metabolism of phagocytes isolated from (A) patients with MetS, (B) patients with both MetS and mild periodontitis, (C) healthy subjects and (D) normal weight subjects with mild periodontitis, were ...

  17. Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

    Czech Academy of Sciences Publication Activity Database

    Vávrová, J.; Kemlink, D.; Šonka, K.; Havrdová, E.; Horáková, D.; Pardini, Barbara; Müller-Myhsok, B.; Winkelmann, J.

    2012-01-01

    Roč. 13, č. 7 (2012), s. 848-851 ISSN 1389-9457 R&D Projects: GA MZd NR8563 Grant - others:GA ČR(CZ) GD309/08/H079; GA MZd(CZ) NT12141 Institutional research plan: CEZ:AV0Z50390512 Keywords : Secondary restless legs syndrome * Multiple sclerosis * Genetic association study Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.487, year: 2012

  18. Cardiovascular and metabolic syndrome risk among men with and without erectile dysfunction: case-control study

    OpenAIRE

    Zambon, João Paulo; Mendonça, Rafaela Rosalba de; Wroclawski, Marcelo Langer; Karam Junior, Amir; Santos, Raul D.; Carvalho, José Antonio Maluf de; Wroclawski, Eric Roger

    2010-01-01

    CONTEXT AND OBJECTIVE: Erectile dysfunction has been associated with cardiovascular diseases. The aim here was to evaluate cardiovascular risk through the Framingham Risk Score (FRS) criteria, C-reactive protein (CRP) assays and presence of metabolic syndrome (MS) in men with and without erectile dysfunction diagnosed within a healthcare program. DESIGN AND SETTING: A retrospective case-control study was conducted. The patients were selected from a healthcare program at the Hospital Israelita...

  19. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    OpenAIRE

    Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R; Bitner-Glindzicz, Maria

    2011-01-01

    Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I?III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. Methods The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLR...

  20. 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...

  1. Prospective Study of Nut Consumption and Incidence of Metabolic Syndrome: Tehran Lipid and Glucose Study.

    Science.gov (United States)

    Hosseinpour-Niazi, Somayeh; Hosseini, Shabnam; Mirmiran, Parvin; Azizi, Fereidoun

    2017-09-23

    This study aimed to assess the association of various types of nut per se, and total nut consumption with the incidence of metabolic syndrome (MetS). A 6.2 ± 0.7-year population-based prospective study was conducted among 1265 adults, aged 19-74 years, participants of the Tehran Lipid and Glucose Study. A 168-item semi-quantitative food frequency questionnaire was used to collect information on nut consumption. MetS was defined according to the Joint Interim Statement guidelines and 276 new cases of MetS were identified. Median ± interquartile range of nut consumption was 2.08 (0.88-5.68) servings/week. After adjusting for family history of diabetes, age, gender, smoking, physical activity, fasting serum glucose at baseline, serum high density lipoprotein cholesterol (HDL-C) at baseline, energy intake, fiber, macronutrients, cholesterol intake, fruit, vegetables, dairy products and body mass index (BMI), a statistically significant decrease was observed in MetS in the third (≥5 servings/week) tertile of nuts (odds ratio: 0.68, 95% CI: 0.44-0.91, p trend: 0.03) compared with the lowest (≤1 serving/week). Walnut consumption showed a significant, inverse association with MetS risk; associations for other nut varieties were not significant. For each additional serving/week of walnuts consumed, incidence of MetS decreased by 3% (ORs: 0.97 CI: 0.93-0.99), after adjusting for confounding factors. Total nut consumption, especially walnuts, reduces the risk of MetS.

  2. Protocol for a randomized controlled study of Iyengar yoga for youth with irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    Sternlieb Beth

    2011-01-01

    Full Text Available Abstract Introduction Irritable bowel syndrome affects as many as 14% of high school-aged students. Symptoms include discomfort in the abdomen, along with diarrhea and/or constipation and other gastroenterological symptoms that can significantly impact quality of life and daily functioning. Emotional stress appears to exacerbate irritable bowel syndrome symptoms suggesting that mind-body interventions reducing arousal may prove beneficial. For many sufferers, symptoms can be traced to childhood and adolescence, making the early manifestation of irritable bowel syndrome important to understand. The current study will focus on young people aged 14-26 years with irritable bowel syndrome. The study will test the potential benefits of Iyengar yoga on clinical symptoms, psychospiritual functioning and visceral sensitivity. Yoga is thought to bring physical, psychological and spiritual benefits to practitioners and has been associated with reduced stress and pain. Through its focus on restoration and use of props, Iyengar yoga is especially designed to decrease arousal and promote psychospiritual resources in physically compromised individuals. An extensive and standardized teacher-training program support Iyengar yoga's reliability and safety. It is hypothesized that yoga will be feasible with less than 20% attrition; and the yoga group will demonstrate significantly improved outcomes compared to controls, with physiological and psychospiritual mechanisms contributing to improvements. Methods/Design Sixty irritable bowel syndrome patients aged 14-26 will be randomly assigned to a standardized 6-week twice weekly Iyengar yoga group-based program or a wait-list usual care control group. The groups will be compared on the primary clinical outcomes of irritable bowel syndrome symptoms, quality of life and global improvement at post-treatment and 2-month follow-up. Secondary outcomes will include visceral pain sensitivity assessed with a standardized

  3. Home medicines reviews following acute coronary syndrome: study protocol for a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Bernal Daniel DL

    2012-04-01

    Full Text Available Abstract Background Despite continual improvements in the management of acute coronary syndromes, adherence to guideline-based medications remains suboptimal. We aim to improve adherence with guideline-based therapy following acute coronary syndrome using an existing service that is provided by specifically trained pharmacists, called a Home Medicines Review. We have made two minor adjustments to target the focus of the existing service including an acute coronary syndrome specific referral letter and a training package for the pharmacists providing the service. Methods/Design We will be conducting a randomized controlled trial to compare the directed home medicines review service to usual care following acute coronary syndromes. All patients aged 18 to 80 years and with a working diagnosis of acute coronary syndrome, who are admitted to two public, acute care hospitals, will be screened for enrolment into the trial. Exclusion criteria will include: not being discharged home, documented cognitive decline, non-Medicare eligibility, and presence of a terminal malignancy. Randomization concealment and sequence generation will occur through a centrally-monitored computer program. Patients randomized to the control group will receive usual post-discharge care. Patients randomized to receive the intervention will be offered usual post-discharge care and a directed home medicines review at two months post-discharge. The study endpoints will be six and twelve months post-discharge. The primary outcome will be the proportion of patients who are adherent to a complete, guideline-based medication regimen. Secondary outcomes will include hospital readmission rates, length of hospital stays, changes in quality of life, smoking cessation rates, cardiac rehabilitation completion rates, and mortality. Discussion As the trial is closely based on an existing service, any improvements observed should be highly translatable into regular practice. Possible

  4. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.

    Science.gov (United States)

    Ajayi, Oluwaseun Jessica; Smith, Ebony Jeannae; Viangteeravat, Teeradache; Huang, Eunice Y; Nagisetty, Naga Satya V Rao; Urraca, Nora; Lusk, Laina; Finucane, Brenda; Arkilo, Dimitrios; Young, Jennifer; Jeste, Shafali; Thibert, Ronald; Reiter, Lawrence T

    2017-10-18

    Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions. The goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome. The development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built. We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time. We developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies. ©Oluwaseun Jessica Ajayi, Ebony Jeannae Smith, Teeradache Viangteeravat

  5. Tired Children : Burnout or Chronic Fatigue Syndrome? Literature Study.

    NARCIS (Netherlands)

    Nijboer, J.M.

    2006-01-01

    This literature study is a preparation on a traineeship and master thesis research at the Northern Center for Health Care research. The topic of this traineeship and research will be burnout in children. A question from pedagogical practice to the science shop of the University Medical Centre in

  6. CHROMOSOMAL & CYTOGENETIC : Studies in a case of Klinefelters Syndrome

    Directory of Open Access Journals (Sweden)

    A. Pirnia

    1970-01-01

    Full Text Available A 21 year old boy was first seen because of Gynecomastia and primary hypogonadisme. A biopsy specimen from the testes revealed hyalinization of the seminiferous tubules with spermatogenic arrest, and tissue studies showed positive sex chromatin and the Karyotype was 47 (XYY.

  7. Childhood constipation; an overview of genetic studies and associated syndromes

    NARCIS (Netherlands)

    Peeters, B.; Benninga, M. A.; Hennekam, R. C.

    2011-01-01

    Constipation is a common problem in children but little is known about its exact pathophysiology. Environmental, behavioural but also genetic factors are thought to play a role in the aetiology of childhood constipation. We provide an overview of genetic studies performed in constipation. Until now,

  8. Alport syndrome in a Kazakh family: a case study

    Indian Academy of Sciences (India)

    exons of the COL4A5 gene in a total of 18 family members. ... During the study of family history we found that the patient's sister also have ... on 3730XL Genetic Analyzer, Applied Biosystems, Foster. City, USA. ... cedures were followed in accordance with the ethical standards of the responsible committee on human experi-.

  9. Burning mouth syndrome and associated factors: A case-control retrospective study.

    Science.gov (United States)

    Chimenos-Küstner, Eduardo; de Luca-Monasterios, Fiorella; Schemel-Suárez, Mayra; Rodríguez de Rivera-Campillo, María E; Pérez-Pérez, Alejandro M; López-López, José

    2017-02-23

    Burning mouth syndrome (BMS) can be defined as burning pain or dysesthesia on the tongue and/or other sites of the oral mucosa without a causative identifiable lesion. The discomfort is usually of daily recurrence, with a higher incidence among people aged 50 to 60 years, affecting mostly the female sex and diminishing their quality of life. The aim of this study was to evaluate the association between several pathogenic factors and burning mouth syndrome. 736 medical records of patients diagnosed of burning mouth syndrome and 132 medical records for the control group were studied retrospectively. The study time span was from January 1990 to December 2014. The protocol included: sex, age, type of oral discomfort and location, among other factors. Analysis of the association between pathogenic factors and BMS diagnosis revealed that only 3 factors showed a statistically significant association: triggers (P=.003), parafunctional habits (P=.006), and oral hygiene (P=.012). There were neither statistically significant differences in BMS incidence between sex groups (P=.408) nor association of BMS with the pathogenic factors of substance abuse (P=.915), systemic pathology (P=.685), and dietary habits (P=.904). Parafunctional habits like bruxism and abnormal movements of tongue and lips can explain the BMS main symptomatology. Psychological aspects and systemic factors should be always considered. As a multifactorial disorder, the treatment of BMS should be executed in a holistic way. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  10. Dietary Patterns in Relation to Metabolic Syndrome among Adults in Poland: A Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Edyta Suliga

    2017-12-01

    Full Text Available In several populations the associations between diet and the risk of metabolic syndrome have not been fully examined yet. The aim of the study is to identify the main dietary patterns among Polish adults and the evaluation of the relationships of these patterns with metabolic syndrome and its components. The study was conducted on a group of 7997 participants, aged between 37 and 66 years old. Dietary patterns were identified by factor analysis. Metabolic syndrome was defined according to the International Diabetes Federation. Three dietary patterns were identified and designated as: “Healthy”, “Westernized” and “Traditional-carbohydrate”. In the adjusted model, a higher score in the “Westernized” pattern aligns with a higher risk of abnormal glucose concentration (ptrend = 0.000, but with a lower risk of abnormal High-Density Lipoprotein Cholesterol HDL-cholesterol concentration (ptrend = 0.024. Higher scores in the “Traditional-carbohydrate” pattern were connected with the risk of abdominal obesity (ptrend = 0.001 and increased triglycerides concentration (ptrend = 0.050. Our results suggest that adherence to the “Traditional-carbohydrate” dietary pattern, characterized by higher intakes of refined grains, potatoes, sugar and sweets is associated with a higher risk of abdominal obesity and triglyceridemia. A “Westernized” dietary pattern on the other hand, is related to hyperglycemia. The study results can be used for community-based health promotion and intervention programs to prevent or better manage chronic diseases.

  11. Population-based study of capsular warning syndrome and prognosis after early recurrent TIA.

    Science.gov (United States)

    Paul, Nicola L M; Simoni, Michela; Chandratheva, Arvind; Rothwell, Peter M

    2012-09-25

    Many guidelines recommend emergency assessment for patients with ≥2 TIAs within 7 days, perhaps in recognition of the capsular warning syndrome. However, it is unclear whether all patients with multiple TIAs are at high early risk of stroke and whether treatable underlying pathologies are more prevalent in this group. We studied clinical characteristics, Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, and risk of stroke in 1,000 consecutive patients with incident and recurrent TIAs in a prospective, population-based study (Oxford Vascular Study). Of 1,000 patients with TIAs, 170 had a further TIA within 7 days (105 within 24 hours). Multiple TIAs were not associated with carotid stenosis or atrial fibrillation, and much of the 10.6 (95% confidence interval [CI] 6.5-15.9) risk of stroke during the 7 days after the first TIA was due to patients with small-vessel disease (SVD) etiology (10 of 24 vs 8 of 146, odds ratio [OR] = 12.3, 95% CI 3.7-41.9, p TIA was similar to the risk after a single TIA in patients with non-SVD TIA (8 of 146 [5.5%] vs 76 of 830 [9.2%], OR = 0.58, 95% CI 0.25-1.3, p = 0.20). Of the 9 patients with stroke after a capsular warning syndrome, all had the recurrent TIA within 24 hours after the first TIA, and the subsequent stroke occurred within 72 hours of the second TIA in 8. The ABCD2 scores of all preceding TIAs were ≥4 in all 9 patients with capsular warning syndrome before stroke. Capsular warning syndrome is rare (1.5% of TIA presentations) but has a poor prognosis (7-day stroke risk of 60%). Otherwise, recurrent TIA within 7 days is not associated with a greater stroke risk than that after a single TIA.

  12. A Pilot Study of IL2 in Drug-Resistant Idiopathic Nephrotic Syndrome.

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    Alice Bonanni

    Full Text Available Tregs infusion reverts proteinuria and reduces renal lesions in most animal models of nephrotic syndrome (i.e. Buffalo/Mna, Adriamycin, Promycin, LPS. IL2 up-regulates Tregs and may be an alternative to cell-therapy in this setting. To evaluate a potential role of IL2 as Tregs inducer and proteinuria lowering agent in human nephrotic syndrome we treated 5 nephrotic patients with 6 monthly cycles of low-dose IL2 (1x106 U/m2 first month, 1.5x106 U/m2 following months. The study cohort consisted of 5 children (all boys, 11–17 years resistant to all the available treatments (i.e. steroids, calcineurin inhibitors, mycophenolate, Rituximab. Participants had Focal Segmental Glomerulosclerosis (3 cases or Minimal Change Nephropathy (2 cases. IL2 was safe in all but one patient who had an acute asthma attack after the first IL2 dose and did not receive further doses. Circulating Tregs were stably increased (>10% during the whole study period in 2 cases while were only partially modified in the other two children who started with very low levels and partially responded to single IL2 Proteinuria and renal function were not modified by IL2 at any phase of the study. We concluded that low-dose IL2 given in monthly pulses is safe and modifies the levels of circulating Tregs. This drug may not be able to lower proteinuria or affect renal function in children with idiopathic nephrotic syndrome. We were unable to reproduce in humans the effects of IL2 described in rats and mice reducing de facto the interest on this drug in nephrotic syndrome.ClinicalTrials.gov NCT02455908.

  13. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

    Science.gov (United States)

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

  14. [Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

    Science.gov (United States)

    Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

    2010-11-01

    To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

  15. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

    Science.gov (United States)

    Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

    1983-03-01

    The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

  16. Posterior Reversible Encephalopathy Syndrome (PRES Associated with Eclampsia: A Case Study

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    Maasoumeh Mirzamoradi

    2017-03-01

    Full Text Available The occurrence of posterior reversible encephalopathy syndrome (PRES in patients with eclampsia is a rare condition. PRES is a reversible syndrome characterized by headache, seizure, altered mentation and loss of vision associated with white matter changes on imaging. The lesions in PRES are thought to be due to vasogenic oedema, predominantly in the posterior cerebral hemispheres. This study reports a 16-year-old pregnant woman who presented with blindness and seizure. The MRI of her brain showed abnormal signal intensity in the white matter of the occipital and frontal lobes. She was treated successfully with pregnancy termination, anti-hypertensives, anticonvulsants, and supportive care. It is concluded that early diagnosis is important to prevent permanent neurologic damage and mortality.

  17. Decompressive L5 Transverse Processectomy for Bertolotti's Syndrome: A Preliminary Study.

    Science.gov (United States)

    Ju, Chang Il; Kim, Seok Won; Kim, Jong Gyue; Lee, Seung Myung; Shin, Ho; Lee, Hyeun Young

    2017-09-01

    Bertolotti's syndrome is a spinal disorder characterized by abnormal enlargement of the transverse process of the most caudal lumbar vertebra. The L5 transverse process may be enlarged either unilaterally or bilaterally and may articulate or fuse with the sacrum or ilium. Pseudoarticulation between the transverse process of the L5 and the alar of the sacrum can cause buttock pain and leg pain. In addition, the L4 exiting nerve root could be compressed by an enlarged L5 transverse process. The authors could have obtained satisfactory results from the selected cases of Bertolotti's syndrome by applying a selective transverse processectomy of the L5. The objective of this study is to determine the effectiveness of L5 transverse processectomy for symptomatic Bertolotti's syndrome. A retrospective study. A total of 256 patients with Bertolotti's syndrome who had severe buttock pain and unilateral or bilateral radiating leg pain were selected. The correct diagnosis was made based on imaging studies which included computed tomography (CT), plain x-rays, and magnetic resonance imaging (MRI). The final diagnosis was made by confirming pain relief from anesthetic block. A total of 87 patients were classified into 2 groups: group A included 50 patients whose pain was relieved by block into the pseudoarticulation and group B included 37 patients whose pain was relieved by block into the L4 exiting nerve root. A total of 61 cases (group A: 39 cases, group B: 22 cases) were selected as pure L5 transverse processectomy. The primary outcome measures were reduction in pain scores and improvement in quality of life. Among 61 patients, there were 19 men and 42 women. The mean age of the patients was 53.2 ± 12 years (group A: 57.8 ± 14 years [16 - 86 years], group B: 53.4 ± 14 years [27 - 77 years]). The mean follow-up period was 6.5 months. The patients' mean visual analog scale (VAS) prior to surgery was 7.54 ± 0.81 (group A: 7.59 ± 0.93, group B: 7.50 ± 0.86), and the mean

  18. A placebo-controlled study of memantine (Ebixa) in dementia of Wernicke-Korsakoff syndrome.

    Science.gov (United States)

    Rustembegović, Avdo; Kundurović, Zlata; Sapcanin, Aida; Sofic, Emin

    2003-01-01

    We evaluated the responses of 16 patients to preliminarily explore the spectrum of effectiveness and tolerability of the memantine, and NMDA antagonist, in the treatment of dementia in Wernicke-Korsakoff syndrome. In this study, for the first time in dementia of Wernicke-Korsakoff syndrome, the response to memantine was assessed. 16 patients with median age of 64 years and median body weight of 77 kg were treated with memantine 10 mg twice daily for up to 28 weeks. Clinical global impressions (CGI), and Mini Mental Status Examination (MMSE) were performed during the treatment period (after 2, 4, and 28 weeks). Efficacy measures also included the ADCS-Activities of Daily Living scale (ADCS-ADL). At 28 weeks, the ADCS-ADL showed significantly less deterioration in memantine treated patients compared with placebo (-2.3 compared with -4.3: p = 0.005). The results of MMSE demonstrate a significant and clinically relevant benefit for memantine relative to placebo as shown by positive outcomes in cognitive and functional assessments. Memantine (10 mg) was safe and well tolerated. The preliminarily findings of this study with 16 patients suggested that memantine is effective in the treatment of dementia in Wernicke-Korsakoff syndrome.

  19. Studying Different Clinical Syndromes Of Paediatric Severe Malaria Using Plasma Proteomics

    KAUST Repository

    Ramaprasad, Abhinay

    2012-08-01

    Background- Severe Plasmodium falciparum malaria remains one of the major causes of childhood morbidity and mortality in Africa. Severe malaria manifests itself as three main clinical syndromes-impaired consciousness (cerebral malaria), respiratory distress and severe malarial anaemia. Cerebral malaria and respiratory distress are major contributors to malaria mortality but their pathophysiology remains unclear. Motivation/Objectives- Most children with severe malaria die within the first 24 hours of admission to a hospital because of their pathophysiological conditions. Thus, along with anti-malarial drugs, various adjuvant therapies such as fluid bolus (for hypovolaemia) and anticonvulsants (for seizures) are given to alleviate the sick child’s condition. But these therapies can sometimes have adverse effects. Hence, a clear understanding of severe malaria pathophysiology is essential for making an informed decision regarding adjuvant therapies. Methodology- We used mass spectrometry-based shotgun proteomics to study plasma samples from Gambian children with severe malaria. We compared the proteomic profiles of different severe malaria syndromes and generated hypotheses regarding the underlying disease mechanisms. Results/Conclusions- The main challenges of studying the severe malaria syndromes using proteomics were the high complexity and variability among the samples. We hypothesized that hepatic injury and nitric oxide play roles in the pathophysiology of cerebral malaria and respiratory distress.

  20. Excessive daytime sleepiness and metabolic syndrome in men with obstructive sleep apnea: a large cross-sectional study.

    Science.gov (United States)

    Fu, Yiqun; Xu, Huajun; Xia, Yunyan; Qian, Yingjun; Li, Xinyi; Zou, Jianyin; Wang, Yuyu; Meng, Lili; Tang, Xulan; Zhu, Huaming; Zhou, Huiqun; Su, Kaiming; Yu, Dongzhen; Yi, Hongliang; Guan, Jian; Yin, Shankai

    2017-10-03

    Excessive daytime sleepiness is a common symptom in obstructive sleep apnea (OSA). Previous studies have showed that excessive daytime sleepiness is associated with some individual components of metabolic syndrome. We performed a large cross-sectional study to explore the relationship between excessive daytime sleepiness and metabolic syndrome in male OSA patients. A total of 2241 suspected male OSA patients were consecutively recruited from 2007 to 2013. Subjective daytime sleepiness was assessed using the Epworth sleepiness scale. Anthropometric, metabolic, and polysomnographic parameters were measured. Metabolic score was used to evaluate the severity of metabolic syndrome. Among the male OSA patients, most metabolic parameters varied by excessive daytime sleepiness. In the severe group, male OSA patients with excessive daytime sleepiness were more obese, with higher blood pressure, more severe insulin resistance and dyslipidemia than non-sleepy patients. Patients with metabolic syndrome also had a higher prevalence of excessive daytime sleepiness and scored higher on the Epworth sleepiness scale. Excessive daytime sleepiness was independently associated with an increased risk of metabolic syndrome (odds ratio =1.242, 95% confidence interval: 1.019-1.512). No substantial interaction was observed between excessive daytime sleepiness and OSA/ obesity. Excessive daytime sleepiness was related to metabolic disorders and independently associated with an increased risk of metabolic syndrome in men with OSA. Excessive daytime sleepiness should be taken into consideration for OSA patients, as it may be a simple and useful clinical indicator for evaluating the risk of metabolic syndrome.

  1. MULLIGAN MOBILIZATION VERSUS STRETCHING ON THE MANAGEMENT OF PIRIFORMIS SYNDROME A COMPARATIVE STUDY

    Directory of Open Access Journals (Sweden)

    Samahir Abuaraki Elbkheet

    2016-04-01

    Full Text Available Background: Piriformis syndrome is a commonly overlooked specific cause of low back pain. Apart from mimicking the sciatica-like symptoms, unilateral piriformis tightness can cause rotational dysfunction and pain in the lumbar region. This could lead to low back pain which is a common musculo skeletal problem and a major reason for activity limitation. Stretching the piriformis tightened muscle is a preferred choice of treatment against surgical intervention to release the muscle. Mulligan’s mobilization is based on movement with mobilization which is proven to be effective in many musculo skeletal dysfunctions including the lumbar spine. The purpose of this study is to explore and compare the two treatment methods in relieving the low back pain in clinical conditions with piriformis syndrome. Methods: In this experimental study, 40 patients with piriformis syndrome were selected and divided into two groups. One group was given only piriformis stretching for the tightened muscle and the other group given Mulligan mobilization for lumbo sacral joints. VAS and lower limb functional index were taken to compare before and after the treatment regime of 4 weeks. Results: There was no significant difference between the two groups in both pain scale and lower limb mobility and function. But there was significant improvement in pain relief and LLFI after the treatment regime in both groups compared to the pre-treatment status. Conclusion: Even as the piriformis syndrome is caused by the tightness of the muscle, the consequence in the lower back and lumbar spine mobility can be improved by a Mulligan mobilization as a single mode of intervention.

  2. Analysis of acute ischemic stroke presenting classic lacunar syndrome. A study by diffusion-weighted MRI

    Energy Technology Data Exchange (ETDEWEB)

    Terai, Satoshi; Ota, Kazuki; Tamaki, Kinya [Hakujyuji Hospital, Fukuoka (Japan)

    2002-03-01

    We retrospectively assessed the pathophysiological features of acute ischemic stroke presenting ''classic'' lacunar syndrome by using diffusion-weighted imaging (DWI). Subjects were 16 patients who were admitted to our hospital within 24 hours of stroke onset and underwent DWI examination on admission. These were divided into three categorical groups; pure motor hemiplegia (PMH) in 8, sensorimotor stroke (SMS) in 7, and dysarthria-clumsy hand syndrome (DCHS) in 1. The fresh responsible lesions were identified by DWI in the perforating territory in 7 patients with PMH and 7 with SMS. Four (one had two possible response lesions; pons and corona radiata) and five patients in the respective groups were diagnosed as lacunar infarction on admission (the largest dimension of the lesion measuring smaller than 15 mm). On the contralateral side to the neurological symptoms, DWI revealed high intensities in cortex, subcortical white matter, and anterior and posterior border zones in the remaining one patient with PMH and in the precentral arterial region in one with DCHS. They were diagnosed as atherothrombotic infarction resulting from the occlusion of the internal carotid artery and cerebral embolism due to atrial fibrillation, respectively. Three patients with PMH showed progressive deterioration after admission and follow-up DWI study in an acute stage revealed enlargement of heir ischemic lesions. The present study suggests that DWI is a useful imaging technique for diagnosis of clinical categories and observation for pathophsiological alteration in the acute ischemic stroke patients with ''classic'' lacunar syndrome. Our results also indicate a necessity to be aware that various types of fresh ischemic lesions other than a single lacune might possibly be developing in cases with this syndrome. (author)

  3. Irritable bowel syndrome and chronic fatigue 6 years after giardia infection: a controlled prospective cohort study.

    Science.gov (United States)

    Hanevik, Kurt; Wensaas, Knut-Arne; Rortveit, Guri; Eide, Geir Egil; Mørch, Kristine; Langeland, Nina

    2014-11-15

    Functional gastrointestinal disorders and fatigue may follow acute infections. This study aimed to estimate the persistence, prevalence, and risk of irritable bowel syndrome and chronic fatigue 6 years after Giardia infection. We performed a controlled prospective study of a cohort of 1252 individuals who had laboratory-confirmed Giardia infection during a waterborne outbreak in 2004. In total, 748 cohort cases (exposed) and 878 matched controls responded to a postal questionnaire 6 years later (in 2010). Responses were compared to data from the same cohort 3 years before (in 2007). The prevalences of irritable bowel syndrome (39.4%) by Rome III criteria and chronic fatigue (30.8%) in the exposed group 6 years after giardiasis were significantly elevated compared with controls, with adjusted relative risks (RRs) of 3.4 (95% confidence interval [CI], 2.9-3.9) and 2.9 (95% CI, 2.3-3.4), respectively. In the exposed group, the prevalence of irritable bowel syndrome decreased by 6.7% (RR, 0.85 [95% CI, .77-.93]), whereas the prevalence of chronic fatigue decreased by 15.3% from 3 to 6 years after Giardia infection (RR, 0.69 [95% CI, .62-.77]). Giardia exposure was a significant risk factor for persistence of both conditions, and increasing age was a risk factor for persisting chronic fatigue. Giardia infection in a nonendemic setting is associated with an increased risk for irritable bowel syndrome and chronic fatigue 6 years later. The prevalences of both conditions decrease over time, indicating that this intestinal protozoan parasite may elicit very long-term, but slowly self-limiting, complications. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America.

  4. Analysis of agreement among definitions of metabolic syndrome in nondiabetic Turkish adults: a methodological study

    Directory of Open Access Journals (Sweden)

    Bersot Thomas P

    2007-12-01

    Full Text Available Abstract Background We aimed to explore the agreement among World Health Organization (WHO, European Group for the Study of Insulin Resistance (EGIR, National Cholesterol Education Program (NCEP, American College of Endocrinology (ACE, and International Diabetes Federation (IDF definitions of the metabolic syndrome. Methods 1568 subjects (532 men, 1036 women, mean age 45 and standard deviation (SD 13 years were evaluated in this cross-sectional, methodological study. Cardiometabolic risk factors were determined. Insulin sensitivity was calculated by HOMA-IR. Agreement among definitions was determined by the kappa statistic. ANOVA and post hoc Tukey's test were used to compare multiple groups. Results The agreement between WHO and EGIR definitions was very good (kappa: 0.83. The agreement between NCEP, ACE, and IDF definitions was substantial to very good (kappa: 0.77–0.84. The agreement between NCEP or ACE or IDF and WHO or EGIR definitions was fair (kappa: 0.32–0.37. The age and sex adjusted prevalence of metabolic syndrome was 38% by NCEP, 42% by ACE and IDF, 20% by EGIR and 19% by WHO definition. The evaluated definitions were dichotomized after analysis of design, agreement and prevalence: insulin measurement requiring definitions (WHO and EGIR and definitions not requiring insulin measurement (NCEP, ACE, IDF. One definition was selected from each set for comparison. WHO-defined subjects were more insulin resistant than subjects without the metabolic syndrome (mean and SD for log HOMA-IR, 0.53 ± 0.14 vs. 0.07 ± 0.23, respectively, p 0.05, but lower log HOMA-IR values (p Conclusion The metabolic syndrome definitions that do not require measurement of insulin levels (NCEP, ACE and IDF identify twice more patients with insulin resistance and increased Framingham risk scores and are more useful than the definitions that require measurement of insulin levels (WHO and EGIR.

  5. Independent associations between a metabolic syndrome severity score and future diabetes by sex and race: the Atherosclerosis Risk In Communities Study and Jackson Heart Study.

    Science.gov (United States)

    Gurka, Matthew J; Golden, Sherita H; Musani, Solomon K; Sims, Mario; Vishnu, Abhishek; Guo, Yi; Cardel, Michelle; Pearson, Thomas A; DeBoer, Mark D

    2017-07-01

    The study aimed to assess for an association between the degree of severity of the metabolic syndrome and risk of type 2 diabetes beyond that conferred by the individual components of the metabolic syndrome. We assessed HRs for an Adult Treatment Panel III (ATP-III) metabolic syndrome score (ATP-III MetS) and a sex- and race-specific continuous metabolic syndrome severity z score related to incident diabetes over a median of 7.8 years of follow-up among participants of two observational cohorts, the Atherosclerosis Risk in Communities study (n = 10,957) and the Jackson Heart Study (n = 2137). The ATP-III MetS had an HR for incident diabetes of 4.36 (95% CI 3.83, 4.97), which was attenuated in models that included the individual metabolic syndrome components. By contrast, participants in the fourth quartile of metabolic syndrome severity (compared with the first quartile) had an HR of 17.4 (95% CI 12.6, 24.1) for future diabetes; in models that also included the individual metabolic syndrome components, this remained significant, with an HR of 3.69 (95% CI 2.42, 5.64). There was a race × metabolic syndrome interaction in these models such that HR was greater for black participants (5.30) than white participants (2.24). When the change in metabolic syndrome severity score was included in the hazard models, this conferred a further association, with changes in metabolic syndrome severity score of ≥0.5 having a HR of 2.66 compared with changes in metabolic syndrome severity score of ≤0. Use of a continuous sex- and race-specific metabolic syndrome severity z score provided an additional prediction of risk of diabetes beyond that of the individual metabolic syndrome components, suggesting an added risk conferred by the processes underlying the metabolic syndrome. Increases in this score over time were associated with further risk, supporting the potential clinical utility of following metabolic syndrome severity over time.

  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. Guillain-Barré syndrome and adjuvanted pandemic influenza A (H1N1) 2009 vaccine: Multinational case-control study in Europe

    NARCIS (Netherlands)

    J.P. Dieleman (Jeanne); S. Romio (Silvana); K. Johansen (Kari); D.M. Weibel (Daniel); J. Bonhoeffer (Jan); M.C.J.M. Sturkenboom (Miriam)

    2011-01-01

    textabstractObjective: To assess the association between pandemic influenza A (H1N1) 2009 vaccine and Guillain-Barré syndrome. Design: Case-control study. Setting: Five European countries. Participants: 104 patients with Guillain-Barré syndrome and its variant Miller-Fisher syndrome matched to one

  8. Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies.

    Science.gov (United States)

    Renault, Francis; Flores-Guevara, Roberto; Sergent, Bernard; Baudon, Jean Jacques; Aouizerate, Jessie; Vazquez, Marie-Paule; Gitiaux, Cyril

    2018-02-09

    We designed a retrospective study of 59 patients with congenital sporadic nonprogressive bilateral facial and abducens palsies. Examinations included needle electromyography (EMG) of facial and oral muscles, facial nerve motor latency and conduction velocity (FNCV), and blink responses (BR). Neurogenic EMG changes were found in 1 or more muscles in 55 of 59 patients, with no abnormal spontaneous activity. EMG changes were homogeneously neurogenic in 17 patients, homogeneously myopathic in 1 patient, and heterogeneous in 41 of 59 patients. Motor latency was increased according to recordings from 52 of 137 facial muscles. An increase of motor latency was not associated with neurogenic EMG (Fischer's test: right, P = 1; left, P = 0.76). FNCV was slowed in 19 of 36 patients. BR was absent bilaterally in 35 of 58 patients; when present, R1 and R2 latencies were normal. Our results support the hypothesis of an early developmental defect localized in motor cranial nerves with spared V-VII internuclear pathways. Muscle Nerve, 2018. © 2018 Wiley Periodicals, Inc.

  9. Study on the relationship between the serum adiponectin and insulin levels in patients with polycystic ovary syndrome (PCOS)

    International Nuclear Information System (INIS)

    Wang Ying; Yang Wen

    2010-01-01

    Objective: To study the relationship between the serum adiponectin and insulin levels in patients with polycystic ovary syndrome (PCOS). Methods: Levels of serum adiponectin and insulin were detected with RIA in 36 patients with polycystic ovary syndrome and 35 controls. Results: In the patients, the serum adiponectin levels were significantly lower than those in controls (P <0.01), while the serum insulin levels were significantly higher (P <0.01). Serum adiponectin and insulin levels were mutually negatively correlated (r =-0.5034, P < 0.01). Conclusion: There is a close relationship between the serum adiponectin and insulin levels in patients with polycystic ovary syndrome. (authors)

  10. The prevalence of the Wernicke-Korsakoff syndrome in Sydney, Australia: a prospective necropsy study.

    Science.gov (United States)

    Harper, C; Gold, J; Rodriguez, M; Perdices, M

    1989-01-01

    In a prospective necropsy study, the prevalence of the Wernicke-Korsakoff syndrome (WKS) in Sydney, Australia was 2.1% of adults over the age of 15 years. The population studied encompassed a wide spectrum of socio-economic and cultural backgrounds. Abuse of alcohol appeared to be the major predisposing factor to the development of the WKS in cases which were adequately documented. This high prevalence rate is in line with other clinical and pathological Australian studies and provides additional support for the idea of prevention of the WKS by the use of thiamin supplements in the Australian diet in flour, bread and perhaps alcoholic beverages. PMID:2784828

  11. Cognitive stimulation of pupils with Down syndrome: A study of inferential talk during book-sharing.

    Science.gov (United States)

    Engevik, Liv Inger; Næss, Kari-Anne B; Hagtvet, Bente E

    2016-08-01

    In the education of pupils with Down syndrome, "simplifying" literal talk and concrete stimulation have typically played a dominant role. This explorative study investigated the extent to which teachers stimulated abstract cognitive functions via inferential talk during book-sharing and how pupils with Down syndrome responded. Dyadic interactions (N=7) were videotaped, transcribed and coded to identify levels of abstraction in teacher utterances and to evaluate the adequacy of pupil responses. One-third of the teachers' utterances contained high levels of abstraction and promoted inferential talk. Six of the seven children predominantly responded in ways which revealed inferential thinking. Dialog excerpts highlighted individual, contextual and interactional factors contributing to variations in the findings. Contrary to previous claims, the children with Down syndrome in the current sample appear able to draw inferences beyond the "here-and-now" with teacher support. This finding highlights the educational relevance and importance of higher-order cognitive stimulation of pupils with intellectual disabilities, to foster independent metacognitive skills. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

    Directory of Open Access Journals (Sweden)

    Kristoffer Haugarvoll

    Full Text Available With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation.Single nucleotide polymorphism (SNP chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c.1528_1529del [p.Met510Valfs*17]. Furthermore, we report the biochemical characterization of GBA2 in these patients. Our studies show that a reduced activity of GBA2 is sufficient to elevate the levels of glucosylceramide to similar levels as seen in Gaucher disease. Furthermore, leucocytes seem to be the proper enzyme source for in vitro analysis of GBA2 activity.We report GBA2 mutations causing a Marinesco-Sjögren-like syndrome in two Norwegian families. One of the families was originally diagnosed with Marinesco-Sjögren syndrome based on an autosomal recessive cerebellar ataxia with cataracts and mental retardation. Our findings highlight the phenotypic variability associated with GBA2 mutations, and suggest that patients with Marinesco-Sjögren-like syndromes should be tested for mutations in this gene.

  13. Comparison of education and balneotherapy efficacy in patients with fibromyalgia syndrome: A randomized, controlled clinical study.

    Science.gov (United States)

    Koçyiğit, Burhan Fatih; Gür, Ali; Altındağ, Özlem; Akyol, Ahmet; Gürsoy, Savaş

    2016-04-01

    Fibromyalgia is a disease characterized by chronic, widespread pain. Pharmacological and non-pharmacological treatment methods are used. The aim of the present study was to determine the effect of balneotherapy on treatment of fibromyalgia syndrome, compared with education alone. A total of 66 patients diagnosed with fibromyalgia syndrome were randomly separated into balneotherapy and control groups. Patients in both groups were informed about fibromyalgia syndrome. In addition, the balneotherapy group received 21 sessions of spa treatment with 34.8 °C thermomineral water, attending the spa 5 days a week. Patients were evaluated by visual analogue scale, tender point count, fibromyalgia impact questioning, and modified fatigue impact scale at initiation of treatment on the 15th day, 1st month, 3rd month, and 6th month. Evaluations were performed by the same doctor. Statistically significant improvement was detected in all parameters, compared to starting evaluation, in both groups. Most improved results among all parameters were observed in the balneotherapy group on the first 3-month follow-up. In addition, all parameters beyond tender point count and modified fatigue impact were improved on 6-month follow-up. It was concluded that addition of balneotherapy to patient education has both short- and long-term beneficial effects on female patients with fibromyalgia.

  14. Dental development in Down syndrome and healthy children: a comparative study using the Demirjian method.

    Science.gov (United States)

    van der Linden, M S; Vucic, S; van Marrewijk, D J F; Ongkosuwito, E M

    2017-05-01

    In children with Down syndrome, the timing of dental eruption is important for orthodontics treatment planning. Aim of this study was to determine whether tooth eruption and development of the dentition in children with Down syndrome are impaired. Dental development was scored on orthopantomograms (OPTs) of 95 children with Down syndrome. The dental age was determined at the left mandibular side according to the Demirjian method and by converting the assigned scores to the dental maturity score. Dental development scores of control children and DS children were compared with a mixed model linear regression analysis. The model showed statistically significant changes relating to increasing age (Pchildren and the control group after using the Nyström imputation (with and without hypodontia). The findings showed that dental development in DS children is similar to the development of control children and that a relationship exists between hypodontia and dental development. The clinically observed late eruption is probably not due to late dental development but due to the other processes that take place during eruption, such as the possible impaired processes at the apical side and the occlusal side of an erupting element. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Computer vision syndrome: a study of the knowledge, attitudes and practices in Indian ophthalmologists.

    Science.gov (United States)

    Bali, Jatinder; Navin, Neeraj; Thakur, Bali Renu

    2007-01-01

    To study the knowledge, attitude and practices (KAP) towards computer vision syndrome prevalent in Indian ophthalmologists and to assess whether 'computer use by practitioners' had any bearing on the knowledge and practices in computer vision syndrome (CVS). A random KAP survey was carried out on 300 Indian ophthalmologists using a 34-point spot-questionnaire in January 2005. All the doctors who responded were aware of CVS. The chief presenting symptoms were eyestrain (97.8%), headache (82.1%), tiredness and burning sensation (79.1%), watering (66.4%) and redness (61.2%). Ophthalmologists using computers reported that focusing from distance to near and vice versa (P =0.006, chi2 test), blurred vision at a distance (P =0.016, chi2 test) and blepharospasm (P =0.026, chi2 test) formed part of the syndrome. The main mode of treatment used was tear substitutes. Half of ophthalmologists (50.7%) were not prescribing any spectacles. They did not have any preference for any special type of glasses (68.7%) or spectral filters. Computer-users were more likely to prescribe sedatives/anxiolytics (P = 0.04, chi2 test), spectacles (P = 0.02, chi2 test) and conscious frequent blinking (P = 0.003, chi2 test) than the non-computer-users. All respondents were aware of CVS. Confusion regarding treatment guidelines was observed in both groups. Computer-using ophthalmologists were more informed of symptoms and diagnostic signs but were misinformed about treatment modalities.

  16. A clinical study of Gilles de la Tourette syndrome in the United Kingdom.

    Science.gov (United States)

    Lees, A J; Robertson, M; Trimble, M R; Murray, N M

    1984-01-01

    The clinical features of 53 British-born patients with Gilles de la Tourette syndrome are described. The mean age at onset of body tics was seven years and for vocalisations 11 years. Coprolalia was present in 39%, copropraxia in 21%, echolalia in 46% and echopraxia in 21%. Complicated antics and mannerisms were also common, often involving the compulsive touching of objects or self-injurious behaviour. Forty-six per cent of cases had a family history of tics in a single close relative and in two individuals a further member of the family had Gilles de la Tourette syndrome. Focal dystonia was present in four patients who had never received neuroleptics drugs and chorea was seen in two other untreated patients. In three patients acoustic startle consistently induced brief eye blink followed by a whole body jerk or jump. Rapid repetitive movements of the hands increased the frequency and severity of tics in 13 patients, but the performance of mental arithmetic under time pressure had a much more unpredictable effect. Electroencephalographic abnormalities occurred in eight (13%) but no definite CT brain scan abnormalities were detected. The incidence of left handedness did not differ from that in the general population and no evidence to suggest organic impairment was found on neuropsychological testing. This study provides no support for the notion that Gilles de la Tourette syndrome is a degenerative disorder of the central nervous system but provides some evidence for heterogeneity. PMID:6582230

  17. Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia.

    Science.gov (United States)

    al Rashed, A A; al-Jarallah, A A; Salih, M A; Kolawole, T; al-Jarallah, J

    1999-06-01

    Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.

  18. Botulinum toxin therapy in Frey's syndrome: a retrospective study of 440 treatments in 100 patients.

    Science.gov (United States)

    Jansen, S; Jerowski, M; Ludwig, L; Fischer-Krall, E; Beutner, D; Grosheva, M

    2017-04-01

    Frey's syndrome is characterised as sweating, redness and warmth of the parotideal area and is often treated with botulinum toxin A. The objective of this retrospective study was to prove whether the toxin dosage and time-to-treatment intervals change after repeated botulinum toxin injections. The charts of patients, who were treated for Frey's syndrome during the last 16 years, were assessed. Three brands of botulinum toxin A were available for therapy. The Minor test was used to confirm the sweating before each treatment and to determine the toxin dosage. Constant amount of botulinum toxin was injected per cm 2 of the affected area. Patients consulted our department for the next treatment as soon as they felt disturbed by recurring sweating and when the sweating was objectively evident in the Minor test. Time intervals between treatments and injected toxin dosages were assessed. In total, 100 patients received 440 treatments in 16 years. Repeated injections, median 4.0, were carried out in 70.5% of patients. Median time interval to the first injection was 2.8 years. Median time interval between treatments was 12.0 months and showed to be steady (anova, P = .49, F = 1.01). Duration of effect of botulinum toxin on Frey's syndrome was long-lasting and stable with no significantly different time intervals between treatments. The extent of the sweating area did not vary significantly after repeated treatments and required a constant dose of botulinum toxin A. © 2016 John Wiley & Sons Ltd.

  19. Severe tooth wear in Prader-Willi syndrome. A case-control study.

    Science.gov (United States)

    Saeves, Ronnaug; Espelid, Ivar; Storhaug, Kari; Sandvik, Leiv; Nordgarden, Hilde

    2012-05-28

    Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome. Forty-nine individuals (6-40 years) with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners using the Visual Erosion Dental Examination (VEDE) scoring system and the individual tooth wear index IA. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected. Mean VEDE score was 1.70 ± 1.44 in the PWS group and 0.46 ± 0.36 in the control group (p Prader-Willi syndrome. There is therefore considerable need for prosthodontic rehabilitation in young adults with PWS.

  20. Panayiotopoulos syndrome and symptomatic occipital lobe epilepsy of childhood: a clinical and EEG study.

    Science.gov (United States)

    Tata, Gulten; Guveli, Betul Tekin; Dortcan, Nimet; Cokar, Ozlem; Kurucu, Hatice; Demirbilek, Veysi; Dervent, Aysin

    2014-06-01

    Panayiotopoulos syndrome (PS) is an age-related seizure susceptibility syndrome that affects the central autonomic system. Although the majority of the few ictal recordings obtained so far suggest an occipital origin, semiological and interictal EEG data appear to favour more extensive involvement. In this study, the characteristics (including those based on semiology and EEG) of children with Panayiotopoulos syndrome (n=24) and those with lesion-related, symptomatic occipital lobe epilepsy (SOLE) (n=23) were compared. Detailed semiological information and EEG parameters including the localisation, distribution, density (n/sec), reactivity, and morphological characteristics of spike-wave foci and their relationship with different states of vigilance were compared between the two groups. The age at seizure onset was significantly younger in patients with symptomatic occipital lobe epilepsy than in those with PS (mean age at onset: 3.4 versus 5.6 years, respectively; p=0.044). Autonomic seizures (p=0.001) and ictal syncope (p=0.055) were more frequent in PS than in symptomatic occipital lobe epilepsy (87.5% and 37.5% versus 43.5% and 13%, respectively). The interictal spike-wave activity increased significantly during non-rapid eye movement (non-REM) sleep in both groups. The spike waves in non-REM seen in PS tended to spread mainly to central and centro-temporal regions. The results indicate that although common features do exist, Panayiotopoulos syndrome differs from symptomatic occipital lobe epilepsy and has a unique low epileptogenic threshold related to particular brain circuits.

  1. [Wells Syndrome in children and atopy: Retrospective study of 11 cases and review of the literature].

    Science.gov (United States)

    Brun, J; Chiaverini, C; Bessis, D; Bourrat, E; Lasek-Duriez, A; Hadj-Rabia, S; Boralevi, F; Lacour, J-P

    2015-05-01

    Well's syndrome, or eosinophilic cellulitis, is rare in childhood, with fewer than 40 pediatric cases being reported since 1979. The physiopathology is unknown. In February 2012, members of the research group of the Department of Pediatric Dermatology Society submitted their case of Wells' syndrome in children aged 0-15 years. Details of clinical, biological and histological features and of therapeutic strategies were collected by physicians using a standardized questionnaire. Pictures were reviewed by the authors. Eleven patients were included (average age: 6 years), with a strong prevalence of atopy (63%). Two types of clinical manifestation were noted: single or multiple cellulitis associated or not with vesiculobullous lesions and fixed urticaria. Eighty-two percent of patients had pruritus and 73% had eosinophilia. For all patients, histological examination of skin biopsies showed an eosinophilic infiltrate extending in the dermis with associated Sweet-like neutrophilic infiltrate being seen in 2 patients. The course of the disease was protracted (mean duration: 8 months) with flare-ups. Treatment varied depending on the doctors (topical or systemic steroids, tacrolimus and dapsone). Our study confirms some of the data in the literature concerning the clinical, histological features and course of Well's syndrome in children. The key information is the high prevalence of atopic children hitherto unreported. In a setting of insect bites, vaccination, infection or traumatism, this unusual background could explain the onset of inflammatory reaction with eosinophils. Oral or topical steroids appear to be the first-line treatment in children when necessary. Well's syndrome in children is rare and characterized by its polymorphism. We report for the first time in a series of patients a high prevalence of atopy, which raises new perspectives in understanding these rare diseases. We propose topical steroids as first-line therapy in children with superficial lesions

  2. Bartter/Gitelman syndromes as a model to study systemic oxidative stress in humans.

    Science.gov (United States)

    Maiolino, Giuseppe; Azzolini, Matteo; Rossi, Gian Paolo; Davis, Paul A; Calò, Lorenzo A

    2015-11-01

    Reactive oxygen species (ROS) are intermediates in reduction-oxidation reactions that begin with the addition of one electron to molecular oxygen, generating the primary ROS superoxide, which in turn interacts with other molecules to produce secondary ROS, such as hydrogen peroxide, hydroxyl radical, and peroxynitrite. ROS are continuously produced during metabolic processes and are deemed to play an important role in cardiovascular diseases, namely, myocardial hypertrophy and fibrosis and atherosclerosis, via oxidative damage of lipids, proteins, and deoxyribonucleic acid. Angiotensin II (Ang II) is a potent vasoactive agent that also exerts mitogenic, proinflammatory, and profibrotic effects through several signaling pathways, in part involving ROS, particularly superoxide and hydrogen peroxide. Moreover, Ang II stimulates NADPH oxidases, leading to higher ROS generation and oxidative stress. Bartter/Gitelman syndrome patients, despite elevated plasma renin activity, Ang II, and aldosterone levels, exhibit reduced peripheral resistance, normal/low blood pressure, and blunted pressor effect of vasoconstrictors. In addition, notwithstanding the activation of the renin-angiotensin system and the increased plasma levels of Ang II, these patients display decreased production of ROS, reduced oxidative stress, and increased antioxidant defenses. In fact, Bartter/Gitelman syndrome patients are characterized by reduced levels of p22(phox) gene expression and undetectable plasma peroxynitrite levels, while showing increased plasma antioxidant power and expression of antioxidant enzymes, such as heme oxygenase-1. In conclusion, multifarious data suggest that Bartter and Gitelman syndrome patients are a model of low oxidative stress and high antioxidant defenses. The contribution offered by the study of these syndromes in elucidating the molecular mechanisms underlying this favorable status could offer chances for new therapeutic targets in disease characterized by high

  3. [Risk factors for metabolic syndrome in a case control study in Temuco, Chile].

    Science.gov (United States)

    Philco L, Patricia; Serón S, Pamela; Muñoz N, Sergio; Navia B, Pilar; Lanas Z, Fernando

    2012-03-01

    Metabolic syndrome is becoming an important public health problem in affluent societies. To identify factors associated to metabolic syndrome in a Southern Chilean city. Using a case control design, 200 participants, aged 35 to 70 years with at least three criteria for metabolic syndrome according to the National Cholesterol Education Program (NCEP_ATPIII) and 200 subjects with less than three criteria, were studied. Both groups were compared in terms of ethnic background, educational level, family history of diabetes and coronary artery disease, menopausal status, smoking, stress and depression, physical activity, changes in body mass index in the last five years and diet. Among subjects aged more than 54 years, among males and among overweight individuals, having a Mapuche origin was a risk factor with odds ratios (OR) of 7.2; 88 and 3.9 respectively. Among subjects aged more than 54 years, among women and among overweight individuals, a family history of diabetes was a risk factor with OR of 17.7; 3.2 and 3.9 respectively. Among subjects aged more than 54 years and among women a change in body mass index of more than three points was a risk factor with OR of 12.5 and 7.4, respectively. Depression also was a risk factor among subjects aged more than 54 years (OR 3.3). Regular consumption of wine was a protective factor among participants of more than 54 years, with an OR of 0.17. The risk factors for metabolic syndrome detected in this group of participants, were having a Mapuche origin, a family history of diabetes mellitus and depression. Wine consumption was associated with a lower risk.

  4. Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPET study with 99Tc(m)-ECD.

    Science.gov (United States)

    Burroni, L; Aucone, A M; Volterrani, D; Hayek, Y; Bertelli, P; Vella, A; Zappella, M; Vattimo, A

    1997-06-01

    Rett syndrome is a progressive neurological paediatric disorder associated with severe mental deficiency, which affects only girls. The aim of this study was to determine if brain blood flow abnormalities detected with 99Tc(m)-ethyl-cysteinate-dimer (99Tc[m]-ECD) single photon emission tomography (SPET) can explain the clinical manifestation and progression of the disease. Qualitative and quantitative global and regional brain blood flow was evaluated in 12 girls with Rett syndrome and compared with an aged-matched reference group of children. In comparison with the reference group, SPET revealed a considerable global reduction in cerebral perfusion in the groups of girls with Rett syndrome. A large statistical difference was noted, which was more evident when comparing the control group with girls with stage IV Rett syndrome than girls with stage III Rett syndrome. The reduction in cerebral perfusion reflects functional disturbance in the brain of children with Rett syndrome. These data confirm that 99Tc(m)-ECD brain SPET is sensitive in detecting hypoperfused areas in girls with Rett syndrome that may be associated with brain atrophy, even when magnetic resonance imaging appears normal.

  5. Prevalence of metabolic syndrome in Middle-East countries: Meta-analysis of cross-sectional studies.

    Science.gov (United States)

    Ansarimoghaddam, Alireza; Adineh, Hosein Ali; Zareban, Iraj; Iranpour, Sohrab; HosseinZadeh, Ali; Kh, Framanfarma

    Metabolic syndrome is an important metabolic disorder which impose noticeable burden on health system. We aimed to review and imply the prevalence of it in Middle-East countries. present study was a systematic review to present overview about metabolic disorder in Middle East. Electronic literature search of Medline database and Google scholar were done for English-language articles without time filtering, as well as for population-based or national studies of the prevalence of metabolic syndrome. The fallowing search terms were used simultaneously: prevalence of " metabolic syndrome" and "national study", "prevalence of metabolic syndrome in Middle East", "prevalence of metabolic syndrome" and "name of country", "metabolic syndrome &name of country". Additionally, relevant articles in bibliography were searched. Analysis of data was carried out in STATA version 11.0. out of 456 studies in first-step searching (selecting by title) 59 studies were recruited and reviewed. Prevalence of metabolic syndrome fluctuated by country and time of study. This amount was 2.2-44% in Turkish, 16-41% in Saudi-Arabia, 14-63 in Pakistan, 26-33 in Qatar, 9-36 in Kuwait, 22-50 in Emirate, 6-42 in Iran, and up to 23 in Yemen. Pooled estimate was 25%. Attributable risk for cardiovascular disease, coronary heart disease, and stroke was 15.87, 11.7, and 16.23, respectively. The prevalence rate of metabolic syndrome is high and it is noticeable cause for stroke, coronary heart disease, and cardiovascular disease. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  6. Risk of metabolic syndrome among children living in metropolitan Kuala Lumpur: A case control study

    Directory of Open Access Journals (Sweden)

    Ismail Mohd N

    2011-05-01

    Full Text Available Abstract Background With the increasing prevalence of childhood obesity, the metabolic syndrome has been studied among children in many countries but not in Malaysia. Hence, this study aimed to compare metabolic risk factors between overweight/obese and normal weight children and to determine the influence of gender and ethnicity on the metabolic syndrome among school children aged 9-12 years in Kuala Lumpur and its metropolitan suburbs. Methods A case control study was conducted among 402 children, comprising 193 normal-weight and 209 overweight/obese. Weight, height, waist circumference (WC and body composition were measured, and WHO (2007 growth reference was used to categorise children into the two weight groups. Blood pressure (BP was taken, and blood was drawn after an overnight fast to determine fasting blood glucose (FBG and full lipid profile, including triglycerides (TG, high-density lipoprotein cholesterol (HDL-C, low-density lipoprotein cholesterol (LDL-C and total cholesterol (TC. International Diabetes Federation (2007 criteria for children were used to identify metabolic syndrome. Results Participants comprised 60.9% (n = 245 Malay, 30.9% (n = 124 Chinese and 8.2% (n = 33 Indian. Overweight/obese children showed significantly poorer biochemical profile, higher body fat percentage and anthropometric characteristics compared to the normal-weight group. Among the metabolic risk factors, WC ≥90th percentile was found to have the highest odds (OR = 189.0; 95%CI 70.8, 504.8, followed by HDL-C≤1.03 mmol/L (OR = 5.0; 95%CI 2.4, 11.1 and high BP (OR = 4.2; 95%CI 1.3, 18.7. Metabolic syndrome was found in 5.3% of the overweight/obese children but none of the normal-weight children (p Conclusions We conclude that being overweight or obese poses a greater risk of developing the metabolic syndrome among children. Indian ethnicity is at higher risk compared to their counterparts of the same age. Hence, primary intervention strategies are

  7. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study

    Directory of Open Access Journals (Sweden)

    Bucerzan S

    2017-05-01

    Full Text Available Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45, particularly the cardiovascular ones (r=0.44. Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y

  8. Barth Syndrome

    DEFF Research Database (Denmark)

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

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, 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...

  9. Clinically isolated syndromes suggestive of multiple sclerosis: an optical coherence tomography study.

    Directory of Open Access Journals (Sweden)

    Celia Oreja-Guevara

    Full Text Available BACKGROUND: Optical coherence tomography (OCT is a simple, high-resolution technique to quantify the thickness of retinal nerve fiber layer (RNFL, which provides an indirect measurement of axonal damage in multiple sclerosis (MS. This study aimed to evaluate RNFL thickness in patients at presentation with clinically isolated syndromes (CIS suggestive of MS. METHODOLOGY: This was a cross-sectional study. Twenty-four patients with CIS suggestive of MS (8 optic neuritis [ON], 6 spinal cord syndromes, 5 brainstem symptoms and 5 with sensory and other syndromes were prospectively studied. The main outcome evaluated was RNFL thickness at CIS onset. Secondary objectives were to study the relationship between RNFL thickness and MRI criteria for disease dissemination in space (DIS as well as the presence of oligoclonal bands in the cerebrospinal fluid. PRINCIPAL FINDINGS: Thirteen patients had decreased RNFL thickness in at least one quadrant. Mean RNFL thickness was 101.67±10.72 µm in retrobulbar ON eyes and 96.93±10.54 in unaffected eyes. Three of the 6 patients with myelitis had at least one abnormal quadrant in one of the two eyes. Eight CIS patients fulfilled DIS MRI criteria. The presence of at least one quadrant of an optic nerve with a RNFL thickness at a P<5% cut-off value had a sensitivity of 75% and a specificity of 56% for predicting DIS MRI. CONCLUSIONS: The findings from this study show that axonal damage measured by OCT is present in any type of CIS; even in myelitis forms, not only in ON as seen up to now. OCT can detect axonal damage in very early stages of disease and seems to have high sensitivity and moderate specificity for predicting DIS MRI. Studies with prospective long-term follow-up would be needed to establish the prognostic value of baseline OCT findings.

  10. White matter alterations in the brains of patients with active, remitted, and cured cushing syndrome: a DTI study.

    Science.gov (United States)

    Pires, P; Santos, A; Vives-Gilabert, Y; Webb, S M; Sainz-Ruiz, A; Resmini, E; Crespo, I; de Juan-Delago, M; Gómez-Anson, B

    2015-06-01

    Cushing syndrome appears after chronic exposure to elevated glucocorticoid levels. Cortisol excess may alter white matter microstructure. Our purpose was to study WM changes in patients with Cushing syndrome compared with controls by using DTI and the influence of hypercortisolism. Thirty-five patients with Cushing syndrome and 35 healthy controls, matched for age, education, and sex, were analyzed through DTI (tract-based spatial statistics) for fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity (general linear model, family-wise error, and threshold-free cluster enhancement corrections, P Cushing syndrome with active hypercortisolism, 7 with Cushing syndrome with medication-remitted cortisol, 20 surgically cured, and 35 controls. Cardiovascular risk factors were used as covariates. In addition, correlations were analyzed among DTI values, concomitant 24-hour urinary free cortisol levels, and disease duration. There were widespread alterations (reduced fractional anisotropy, and increased mean diffusivity, axial diffusivity, and radial diffusivity values; P Cushing syndrome compared with controls, independent of the cardiovascular risk factors present. Both active and cured Cushing syndrome subgroups showed similar changes compared with controls. Patients with medically remitted Cushing syndrome also had reduced fractional anisotropy and increased mean diffusivity and radial diffusivity values, compared with controls. No correlations were found between DTI maps and 24-hour urinary free cortisol levels or with disease duration. Diffuse WM alterations in patients with Cushing syndrome suggest underlying loss of WM integrity and demyelination. Once present, they seem to be independent of concomitant hypercortisolism, persisting after remission/cure. © 2015 by American Journal of Neuroradiology.

  11. [Disease-syndrome combination in integrated traditional Chinese and Western medicine in andrology: Confusions and countermeasures in studies].

    Science.gov (United States)

    Zhang, Min-Jian

    2017-07-01

    Researches on the mechanisms underlying the therapeutic effects of the disease-syndrome combination approach in integrated traditional Chinese and Western medicine are becoming a hot spot in andrology, but many recent studies of this kind have failed to explain the connotation of integrated traditional Chinese and Western medicine in andrology. Related existing problems include repeated researches into the same indexes of action mechanisms of different therapeutic principles of traditional Chinese medicine (TCM), Chinese herbal compound and special prescriptions, studies focusing on individual diseases but ignoring symptoms, immature syndrome models for studies of mechanisms, and too much attention to uncertain or immature target mechanisms. The stress should be placed on the action mechanisms of Chinese herbal compound and special prescriptions on male diseases and, what is more important, on the clarification of the essential principles of differentiation and treatment of TCM syndromes. In the recent years, proteomics, genomics, transcriptomics and metabolomics have shed some light upon researches into the mechanisms underlying the therapeutic effects of the disease-syndrome combination approach in integrated traditional Chinese and Western medicine in andrology. An insight into the TCM syndrome, a macroscopic inductive analysis, and a comprehension of such microcosmic aspects as the gene, protein, metabolism and metagenome may contribute to some breakthroughs and new ideas in the studies of disease-syndrome combination in integrated traditional Chinese and Western medicine in andrology.

  12. Association between salivary pH and metabolic syndrome in women: a cross-sectional study

    OpenAIRE

    Tremblay, Monique; Brisson, Diane; Gaudet, Daniel

    2012-01-01

    Abstract Background The salivary flow rate is an important determinant of salivary pH. It is influenced by several metabolic syndrome (MetS) components as well as the menopausal status. The cluster of cardiometabolic risk factors that characterizes the MetS could be exacerbated following menopause. The objective of this study was therefore to document the association between salivary pH and MetS expression in women according to the menopausal status. Methods In this cross-sectional study, uns...

  13. Prevalence of dry eye syndrome at patients with diabetus melitus tip 2, one year retrospective study May 2011-June 2012

    Directory of Open Access Journals (Sweden)

    Nora Burda

    2012-01-01

    Conclusions: In our study the Dry Eye Syndrome showed to have a high correlation with Diabetes Mellitus Tip II (about 52.9%. Prevalence of Dry Eye was significantly higher at patients with longer duration of diabetes. Dry Eye seems to be an important contributing factor related to corneal abnormalities. Age and sex not seem to play any important role in this condition. Good glycemic control is important for prevention and control of Dry Eye Syndrome.

  14. Reverse-namaskar: A new sign in Ehlers-Danlos syndrome: A family pedigree study of four generations

    Directory of Open Access Journals (Sweden)

    Premalatha S

    2010-01-01

    Full Text Available Ehlers-Danlos Syndrome (EDS is a rare group of inheritable connective tissue disorder of defective collagen. Skin, joints and blood vessels are most commonly affected. Clinical signs such as Gorlin sign and Metenier sign have been described in this syndrome. We report another new clinical sign called ′Reverse-Namaskar′ sign as an important clinical finding in EDS, based on the family pedigree study of the proband.

  15. Cortisol, obesity and the metabolic syndrome: A cross-sectional study of obese subjects and review of the literature

    OpenAIRE

    Abraham, SB; Rubino, D; Sinaii, N; Ramsey, S; Nieman, LK

    2013-01-01

    Circulating cortisol and psychosocial stress may contribute to the pathogenesis of obesity and metabolic syndrome. To evaluate these relationships, we performed a cross-sectional study of 369 overweight and obese subjects and 60 healthy volunteers and reviewed the previous literature. Overweight and obese subjects had at least two other features of Cushing?s syndrome. They underwent measurements representing cortisol dynamics (24h urine cortisol excretion (UFC), bedtime salivary cortisol, 1 m...

  16. A CLINICAL STUDY TO EVALUATE THE ROLE OF AKSHITARPANA, SHIRODHARA AND AN AYURVEDIC COMPOUND IN CHILDHOOD COMPUTER VISION SYNDROME

    OpenAIRE

    Singh Omendra Pal; Singh Laxmi; Kumar Abhimanyu

    2011-01-01

    Computer vision syndrome is one among the lifestyle disorders in children. About 88% of people who use computers everyday suffer from this problem and children are no exception. Computer Vision Syndrome (CVS) is the complex of eye and vision problems related to near works which are experienced during the use of Video Display Terminals (TV and computers). Therefore, considering these prospects a randomized double blind placebo control study was conducted among 40 clinically diagnosed children ...

  17. Associations Between Geriatric Syndromes and Mortality in Community-Dwelling Elderly: Results of a National Longitudinal Study in Taiwan.

    Science.gov (United States)

    Huang, Chi-Chang; Lee, Jenq-Daw; Yang, Deng-Chi; Shih, Hsin-I; Sun, Chien-Yao; Chang, Chia-Ming

    2017-03-01

    Although geriatric syndromes have been studied extensively, their interactions with one another and their accumulated effects on life expectancy are less frequently discussed. This study examined whether geriatric syndromes and their cumulative effects are associated with risks of mortality in community-dwelling older adults. Data were collected from the Taiwan Longitudinal Study in Aging in 2003, and the participant survival status was followed until December 31, 2007. A total of 2744 participants aged ≥65 years were included in this retrospective cohort study; 634 died during follow-up. Demographic factors, comorbidities, health behaviors, and geriatric syndromes, including underweight, falls, functional impairment, depressive condition, and cognitive impairment, were assessed. Cox proportional hazard regression analysis was used to estimate the hazard ratios (HRs) and 95% confidence intervals (CIs) for the probability of survival according to the cumulative number of geriatric syndromes. The prevalence of geriatric syndromes increased with age. Mortality was significantly associated with age ≥75 years; male sex; ≤6 years of education; history of stroke, malignancy; smoking; not drinking alcohol; and not exercising regularly. Geriatric syndromes, such as underweight, functional disability, and depressive condition, contributed to the risk of mortality. The accumulative model of geriatric syndromes also predicted higher risks of mortality (N = 1, HR 1.50, 95% CI 1.19-1.89; N = 2, HR 1.69, 95% CI 1.25-2.29; N ≥ 3, HR 2.43, 95% CI 1.62-3.66). Community-dwelling older adults who were male, illiterate, receiving institutional care, underweight, experiencing a depressive condition, functionally impaired, and engaging in poor health behavior were more likely to have a higher risk of mortality. The identification of geriatric syndromes might help to improve comprehensive care for community-dwelling older adults. Copyright © 2016 AMDA – The Society for

  18. Association between multiple geriatric syndromes and life satisfaction in community-dwelling older adults: A nationwide study in Taiwan.

    Science.gov (United States)

    Yang, Deng-Chi; Lee, Jenq-Daw; Huang, Chi-Chang; Shih, Hsin-I; Chang, Chia-Ming

    2015-01-01

    Although previous studies have investigated the association between a single geriatric syndrome and life satisfaction in the older adults, the accumulated effects of multiple geriatric syndromes on life satisfaction remain unclear. We conducted a nationwide study by using data from the Taiwan Longitudinal Study on Aging database. A total of 2415 older adults were enrolled. Life satisfaction was evaluated according to the Life Satisfaction Index, and the geriatric syndromes included a depressive disorder, cognitive impairment, functional impairment, urine incontinence, pain, a fall, and polypharmacy. Other characteristics were age, sex, marital status, education level, self-rated health, and chronic diseases. Univariate analysis revealed that the older adults, who were illiterate, did not live with a partner, yet other issues such as stroke, malignancy, osteoarthritis, poor self-rated health, a depressive disorder, functional impairment, urine incontinence, or pain were associated with lower life satisfaction. In the multivariate regression model, the older adults who were male, illiterate, lived without a partner, had poor self-rated health, or had a depressive disorder were more likely to have lower life satisfaction. In addition, life satisfaction was unaffected in the older adults with only 1 geriatric syndrome, but among those with ≥2 geriatric syndromes, an increased number of geriatric syndromes were associated with lower life satisfaction. In addition to socio-demographic factors, cumulative effects of multiple geriatric syndromes might affect life satisfaction in the older adults. Further study of interventions for reducing geriatric syndromes to maintain life satisfaction is required. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  19. The Relationship between Irritable Bowel Syndrome, Depression, Anxiety, and Stress among Sample of Irritable Bowel Patients - Predictive Study

    OpenAIRE

    Osama Hasan Gaber

    2016-01-01

    This study aimed to examine the relationship of irritable bowel syndrome, anxiety, depression and stress among a sample of78 IBS patients (Rome III Diagnostic Criteria for Irritable Bowel Syndrome), anxiety symptoms scale, Depression symptoms scale, and stress scale (prepared by the researcher) were used Pearson Correlation Coefficient showed that there are statistically significant relationship between IBS and Anxiety, Depression and Stress (P?=0.01). The Regression and Prediction Coefficien...

  20. [Study on the correlation between syndrome differ classification of knee osteoarthritis and X-ray image].

    Science.gov (United States)

    Jin, Li-Kun; Zhang, Guo-Zhong; Tang, Ke; Liu, Yang

    2010-12-01

    To study the correlation between syndrome differ classification of knee osteoarthritis and X-ray image, so as to provide evidence for clinical diagnosis and treatment. From Jun. 2007 to Dec. 2007, 78 patients (108 knees) with knee osteoarthritis were reviewed, including 65 females (89 knees) and 13 males (19 knees), ranging in age from 41 to 77 years. According to the standards for the differentiation of syndrome in the treatment of knee osteoarthritis defined in Principle of Clinical Research for New Traditional Herbs, the patients were divided into three types: Type I, insufficiency of the liver and kidney, with stagnation of tendons and muscles, 43 knees; Type II, insufficiency of the spleen and kidney, with dampness infusion into bone and joints, 26 knees; Type I, deficiency of the liver and kidney, with inter-obstruction of phlegm and stasis 39 knees. Normotopia and lateral plain film of knee joint of weigh loading and in erect position, and patellofemoral Skyline plain flim was taken. Joint space narrow, osteophyte generation, subchondral osteosclerosis and subchondral cystic degeneration were evaluated. All data were analyzed by K independent samples nonparametric test in order to find out the correlation between syndrome differ classification of knee osteoarthritis and X-ray image. It was shown that after K independent samples nonparametric test about syndrome differ classification of knee osteoarthritis and X-ray image: there were significant differences among three types about lateral patella osteophyte, condyles of tibia osteophyte and Type II was the most serious, Type I was secondary, Type II was the lightest. Other index had no obvious difference among the three groups. There is certain correlation between syndrome differ classification of knee osteoarthritis and X-ray image. There are significant differences among three types about lateral patella osteophyte, condyles of tibia osteophyte, the Type II is the most serious,Type I is secondary, Type II

  1. Paroxysmal supraventricular tachycardia and Wolff-Parkinson-White syndrome in ankylosing spondylitis: a large cohort observation study and literature review.

    Science.gov (United States)

    Ho, Huei-Huang; Yeh, San-Jou; Tsai, Wen-Pin; Wang, Chin-Man; Chen, Ji Yih

    2012-12-01

    To investigate the associations of paroxysmal supraventricular tachycardia (PSVT) and Wolff-Parkinson-White (WPW) syndrome with ankylosing spondylitis (AS). We conducted a retrospective cohort study by reviewing the medical records of 1503 consecutive AS patients diagnosed at a tertiary medical center. The clinical and electrocardiographic (ECG) characteristics of 641 AS patients having 12-lead ECG available were further analyzed in a precise manner. Among the 641 AS patients with 12-lead ECG available for detecting cardiac abnormalities, 14 were identified as having PSVT, including 3 with WPW syndrome and 1 having a WPW (ventricular preexcitation) ECG pattern. A higher proportion of AS patients presented with PSVT (21.8/1000) compared with a general population-based study (2.25/1000). Also, AS patients demonstrated a higher prevalence of WPW syndrome or WPW pattern (6.24/1000) than found in general population-based studies (0.9 to 1.5/1000). Ankylosing spondylitis patients with PSVT or WPW syndrome had significantly higher rates of peripheral arthritis (78.6%; P = 0.002), acute anterior uveitis (64.3%; P = 0.003), bamboo spine (64.3%; P = 0.001), and other cardiovascular disorders (85.7%; P syndrome. Detailed ECG and electrophysiological examinations are required for early detection of PSVT and WPW syndrome for prompt resolution of potentially life-threatening complications in all AS patients, especially those presenting with the symptoms of palpitation, dizziness, dyspnea, or syncope. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Serum uric acid concentration and metabolic syndrome among elderly Koreans: The Korean Urban Rural Elderly (KURE) study.

    Science.gov (United States)

    Choi, Hansol; Kim, Hyeon Chang; Song, Bo Mi; Park, Ji Hye; Lee, Ju-Mi; Yoon, Da-Lim; Yoon, Young Mi; Rhee, Yumie; Youm, Yousik; Kim, Chang Oh

    2016-01-01

    Epidemiologic studies have demonstrated that elevated serum uric acid concentration is an independent risk factor for metabolic syndrome. However, few studies have focused on elderly populations. Thus, we investigated the association of serum uric acid concentration with metabolic syndrome in community-dwelling elderly Koreans. This cross-sectional analysis included 2940 participants (986 men and 1954 women) aged 65 years or older who participated in a baseline health assessment for the Korean Urban Rural Elderly cohort study from 2012 to 2014. Serum uric acid concentration was analyzed using both continuous and dichotomous variables. Hyperuricemia was defined as a uric acid concentration ≥7.0 mg/dL in men and ≥6.0 mg/dL in women. Metabolic syndrome was defined according to the 2009 harmonizing definition. Multiple logistic regression models were used to investigate independent association between serum uric acid and metabolic syndrome, after adjusting for age, body mass index, LDL cholesterol, glycated hemoglobin, blood urea nitrogen, estimated glomerular filtration rate health behaviors, and medications. Prevalence of metabolic syndrome and its components increased significantly according to uric acid concentration in both sexes. The adjusted odds ratios for having metabolic syndrome per 1.0mg/dL higher uric acid concentration were 1.16 (95% CI: 1.03-1.31) in men and 1.27 (95% CI: 1.13-1.42) in women. Hyperuricemia was also associated with metabolic syndrome, with adjusted odds ratios of 1.71 (95% CI: 1.11-2.63) in men and 1.55 (95% CI: 1.05-2.29) in women. Elevated serum uric acid concentration was independently associated with an increased prevalence of metabolic syndrome in community-dwelling elderly Koreans. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  3. An evaluation of the metabolic syndrome in the HyperGEN study

    Directory of Open Access Journals (Sweden)

    Lewis Cora E

    2005-01-01

    Full Text Available Abstract Background In 2001 the National Cholesterol Education Program (NCEP provided a categorical definition for metabolic syndrome (c-MetS. We studied the extent to which two ethnic groups, Blacks and Whites were affected by c-MetS. The groups were members of the Hypertension Genetic Epidemiology Network (HyperGEN, a part of the Family Blood Pressure Program, supported by the NHLBI. Although the c-MetS definition is of special interest in particular to the clinicians, the quantitative latent traits of the metabolic syndrome (MetS are also important in order to gain further understanding of its etiology. In this study, quantitative evaluation of the MetS latent traits (q-MetS was based on the statistical multivariate method factor analysis (FA. Results The prevalence of the c-MetS was 34% in Blacks and 39% in Whites. c-MetS showed predominance of obesity, hypertension, and dyslipidemia. Three and four factor domains were identified through FA, classified as "Obesity," "Blood pressure," "Lipids," and "Central obesity." They explained approximately 60% of the variance in the 11 original variables. Two factors classified as "Obesity" and "Central Obesity" overlapped when FA was performed without rotation. All four factors in FA with Varimax rotation were consistent between Blacks and Whites, between genders and also after excluding type 2 diabetes (T2D participants. Fasting insulin (INS associated mainly with obesity and lipids factors. Conclusions MetS in the HyperGEN study has a compound phenotype with separate domains for obesity, blood pressure, and lipids. Obesity and its relationship to lipids and insulin is clearly the dominant factor in MetS. Linkage analysis on factor scores for components of MetS, in familial studies such as HyperGEN, can assist in understanding the genetic pathways for MetS and their interactions with the environment, as a first step in identifying the underlying pathophysiological causes of this syndrome.

  4. Maxillomandibular Advancement in Obstructive Sleep Apnea Syndrome Patients: a Restrospective Study on the Sagittal Cephalometric Variables

    Directory of Open Access Journals (Sweden)

    Paolo Ronchi

    2013-06-01

    Full Text Available Objectives: The present retrospective study analyzes sagittal cephalometric changes in patients affected by obstructive sleep apnea syndrome submitted to maxillomandubular advancement. Material and Methods: 15 adult sleep apnea syndrome (OSAS patients diagnosed by polysomnography (PSG and treated with maxillomandubular advancement (MMA were included in this study. Pre- (T1 and postsurgical (T2 PSG studies assessing the apnea/hypopnea index (AHI and the lowest oxygen saturation (LSAT level were compared. Lateral cephalometric radiographs at T1 and T2 measuring sagittal cephalometric variables (SNA, SNB, and ANB were analyzed, as were the amount of maxillary and mandibular advancement (Co-A and Co-Pog, the distance from the mandibular plane to the most anterior point of the hyoid bone (Mp-H, and the posterior airway space (PAS.Results: Postoperatively, the overall mean AHI dropped from 58.7 ± 16 to 8.1 ± 7.8 events per hour (P < 0.001. The mean preoperative LSAT increased from 71% preoperatively to 90% after surgery (P < 0.001. All the patients in our study were successfully treated (AHI < 20 or reduced by 50%. Cephalometric analysis performed after surgery showed a statistically significant correlation between the mean SNA variation and the decrease in the AHI (P = 0.01. The overall mean SNA increase was 6°.Conclusions: Our findings suggest that the improvement observed in the respiratory symptoms, namely the apnea/hypopnea episodes, is correlated with the SNA increase after surgery. This finding may help maxillofacial surgeons to establish selective criteria for the surgical approach to sleep apnea syndrome patients.

  5. Association Study between Ghrelin Gene Polymorphism and Metabolic Syndrome in a Han Chinese Population.

    Science.gov (United States)

    You, Yueyue; Yu, Yaqin; Wu, Yanhua; Rao, Wenwang; Zhang, Yangyu; Liu, Yingyu; Yang, Guang; Fu, Yingli; Shi, Jieping; Kou, Changgui

    2017-01-01

    Ghrelin, in humans, is a hormone secreted from the stomach with an orexigenic effect, which is good for digestion and absorption, as well as regulating physical growth, metabolism, and energy balance. It is also involved in the development of metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM). This study assessed the association between single nucleotide variants of the GHRL gene and the risk of metabolic syndrome in a Han Chinese population. A case-control study was performed on 3780 Han Chinese comprising 1813 MetS cases and 1967 controls. Three missense polymorphisms in GHRL (rs26802, rs10490816, and rs696217) were selected, and the association between these polymorphisms and the risk of MetS was investigated. Metabolic syndrome was defined according to the criteria of the International Diabetes Federation (IDF). Using Pearson's 2 test, we found that there were no significant differences in genotype distributions and allele frequencies between cases and controls (all p > 0.05). There were also no significant differences in haplotype distributions between MetS cases and healthy controls. Furthermore, we confirmed that rs26802 of the GHRL gene is associated with body mass index (BMI), waist circumference, systolic blood pressure (SBP), and fasting glucose; rs10490816 is associated with triglycerides (TG) and total cholesterol (TC); while rs696217 is associated with hip circumference and fasting glucose. We concluded that mutations in the GHRL gene did not confer risk for MetS in our study population. Therefore, functional analysis and replication studies in other populations are needed to further investigate the exact role of the GHRL gene in MetS.

  6. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

    NARCIS (Netherlands)

    Gerkes, E.H.; Kevie-Kersemaekers, A.M. van der; Yakin, M.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van

    2010-01-01

    Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically

  7. The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

    NARCIS (Netherlands)

    Gerkes, Erica H.; van der Kevie-Kersemaekers, Anne-Marie F.; Yakin, Mariam; Smeets, Dominique F. C. M.; van Ravenswaaij-Arts, Conny M. A.

    2010-01-01

    Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically

  8. A multicenter study on Leigh syndrome: Disease course and predictors of survival

    NARCIS (Netherlands)

    K. Sofou (Kalliopi); I.F.M. de Coo (René); M.K. Isohanni (Matti); M. Ostergaard; K. Naess (Karin); L. de Meirleir (Linda); C. Tzoulis (Charalampos); J. Uusimaa (Johanna); I. de Angst (Isabel); T. Lönnqvist (Tuula); H. Pihko (Helena); K. Mankinen (Katariina); L.A. Bindoff (Laurence Albert); M. Tulinius (Már); N. Darin (Niklas)

    2014-01-01

    textabstractBackground: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal

  9. Study on TCM Syndrome Differentiation of Primary Liver Cancer Based on the Analysis of Latent Structural Model

    Directory of Open Access Journals (Sweden)

    Zhan Gu

    2015-01-01

    Full Text Available Primary liver cancer (PLC is one of the most common malignant tumors because of its high incidence and high mortality. Traditional Chinese medicine (TCM plays an active role in the treatment of PLC. As the most important part in the TCM system, syndrome differentiation based on the clinical manifestations from traditional four diagnostic methods has met great challenges and questions with the lack of statistical validation support. In this study, we provided evidences for TCM syndrome differentiation of PLC using the method of analysis of latent structural model from clinic data, thus providing basis for establishing TCM syndrome criteria. And also we obtain the common syndromes of PLC as well as their typical clinical manifestations, respectively.

  10. Study on TCM Syndrome Differentiation of Primary Liver Cancer Based on the Analysis of Latent Structural Model.

    Science.gov (United States)

    Gu, Zhan; Qi, Xiuzhong; Zhai, Xiaofeng; Lang, Qingbo; Lu, Jianying; Ma, Changping; Liu, Long; Yue, Xiaoqiang

    2015-01-01

    Primary liver cancer (PLC) is one of the most common malignant tumors because of its high incidence and high mortality. Traditional Chinese medicine (TCM) plays an active role in the treatment of PLC. As the most important part in the TCM system, syndrome differentiation based on the clinical manifestations from traditional four diagnostic methods has met great challenges and questions with the lack of statistical validation support. In this study, we provided evidences for TCM syndrome differentiation of PLC using the method of analysis of latent structural model from clinic data, thus providing basis for establishing TCM syndrome criteria. And also we obtain the common syndromes of PLC as well as their typical clinical manifestations, respectively.

  11. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited....... We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  12. Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study

    OpenAIRE

    Kar, Sujita Kumar; Singh, Amit

    2017-01-01

    Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-cen...

  13. The inclusion of children with down’s syndrome into the relational psychomotricity: a case study

    Directory of Open Access Journals (Sweden)

    Atos Prinz Falkenbach

    2008-05-01

    Full Text Available This article is the result of an investigative process using Down’s syndrome children gathered with “normal” children in relational psychomotricity sessions. It aimed at studying the relationship among the protagonist children of the study with the other children, the teachers and the objects, as well as investigating their behavioral effects during regular relational psychomotricity sessions. It was a qualitative study that used different instruments for data collecting, such as: interviews, observations, descriptive memories, and the documents analysis. The analysis and interpretation of the results allowed the development of the following variables: a manifestations of Down’s syndrome and behaviors presented by the protagonist children of the study; b imitation and rhythm of the group as a stimulus for the development of the mental processes; c the pedagogical action as a mediator of children relationship. The study showed that the pedagogical intervention into the relational psychomotricity practice in an eclectic group allowed the extension of the social and affectionate relations of these children, as well as diversified and enriched their playing and exercising behavior.

  14. Isotope techniques in studies of selenium deficiency and toxicity syndromes in farm animals

    International Nuclear Information System (INIS)

    Giese, W.W.

    1984-01-01

    In a brief review of the Se deficiency syndrome in ruminants, studies using non-isotopic methods are applied to an introductory description of the disease. They include methods currently applied for determining Se deficiency status in feed and in ruminant animals. Detection of potential white muscle disease in lambs and calves is discussed. The application of 75 Se in studies on absorption, tissue distribution and excretion under feeding regimes with different Se levels and partly with addition of SO 4 ions or vitamin E is reviewed. In vitro studies with 75 Se include a description of the 75 Se uptake test with red blood cells, the metabolism of selenite, selenate and selenomethionine in rumen microorganisms, and the distribution of 75 Se in cow's and goat's milk. Methods of Se supplementation in Se-deficient areas are summarized and tests with 75 Se-labelled ruminal pellets in sheep and cattle are described. The Se toxicity syndrome is surveyed with respect to causative agents, symptomatology and gross pathology. Special reference is made to the blind staggers and the alkali disease types of selenosis. Isotope techniques are found to be less frequently applied in studies on Se toxicity than in Se deficiency studies. (author)

  15. Work-related carpal tunnel syndrome treatment: a cross-sectional study among 106 patients

    Directory of Open Access Journals (Sweden)

    M. Aouatef

    2017-08-01

    Full Text Available The objective is to assess the influence of sociodemographic, professional and clinical variables on the choice of treatment of work-related carpal tunnel syndrome (CTS. An exhaustive and trans-sectional study was conducted over a period of eight years, from 1st January 2006 to 31 December 2013 in the Department of Occupational Medicine at University Hospital of Mahdia, Tunisia. The study population was represented by patients with work-related carpal tunnel syndrome. Data collection was based on a questionnaire sheet, describing social, occupational and medical characteristics of patients. The study population was characterized by a large female dominance, representing 95.3% with an average age of 42±7.8 years. Patients medically treated represented 38.7% and 61.3% had had surgical treatment. After binary logistic regression, surgical indication of CTS was significantly correlated to diabetes (p=0.017, other musculoskeletal disorders (p=0.02, functional signs of CTS (acrocyanosis p=0.05; muscle weakness p=0.015; radiating pain p=0.01; painful discomfort of the hand, the forearm or arm p=0.027 and to the atrophy of thenar muscles (p=0.018. According to this study, the choice of therapy for occupational CTS depends only on clinical data. More detailed studies will be needed to refine these results.

  16. Trends of Serum Electrolyte Changes in Crush syndrome patients of Bam Earthquake; a Cross sectional Study

    Directory of Open Access Journals (Sweden)

    Saeed Safari

    2016-12-01

    Full Text Available Introduction: Electrolyte imbalances are very common among crushed earthquake victims but there is notenough data regarding their trend of changes. The present study was designed to evaluate the trend of changesin sodium, calcium, and phosphorus ions among crush syndrome patients. Methods: In this retrospectivecross-sectional study, using the database of Bam earthquake victims, which was developed by Iranian Society ofNephrology following Bam earthquake, Iran, 2003, the 10-day trend of sodium, calcium, and phosphorus ionschanges in > 15 years old crush syndrome patients was evaluated. Results: 118 patients with the mean age of25.6 § 6.9 yearswere studied (57.3 male. On the first day of admission, 52.5% (95% CI: 42.7 - 62.3 of the patientshad hyponatremia, which reached 43.9% (95% CI: 28.5 - 59.3 on day 10. 100.0% of patients were hypocalcemicon admission and serum calcium level did not change dramatically during the 10 days of hospitalization. Theprevalence of hyperphosphatemia on the first day was 90.5% (95% CI: 81.5 - 99.5 and on the 10th day of hospitalization66.7% (95% CI: 48.5 - 84.8 of the patients were still affected. Conclusion: The results of the presentstudy shows the 52.5%prevalence of hyponatremia, 100% hypocalcemia, and 90.5% hyperphosphatemia amongcrush syndrome patients of Bam earthquake victims on the first day of admission. Evaluation of 10-day trendshows a slow decreasing pattern of these imbalances as after 10 days, 43.9% still remain hyponatremic, 92.3%hypocalcemic, and 66.7% hypophosphatemic.

  17. Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

    Science.gov (United States)

    Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

    2016-07-01

    Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; PTurner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. © 2016 American Heart Association, Inc.

  18. Burnout syndrome in first to sixth-year medical students at a private university in the north of Mexico: descriptive cross-sectional study.

    Science.gov (United States)

    Asencio-López, Laura; Almaraz-Celis, Guillermo Daniel; Carrillo Maciel, Vicente; Huerta Valenzuela, Paola; Silva Goytia, Luis; Muñoz Torres, Marcos; Monroy Caballero, Fernando; Regalado Tapia, Joel; Dipp Martin, Kerigma; López Miranda, Dinorah; Medina Lavenant, Clyvia; Pizarro Rodríguez, Karen; Santiago Martínez, Cesar; Saucedo Aparicio, Alma Geovanna; Flores Lepe, Rodolfo

    2016-04-25

    Burnout syndrome is a three-dimensional clinical syndrome caused by stress at work. It is frequent in professions which require direct contact with people. In Mexico, the presence of Burnout Syndrome in doctors and medical students, is characterized as a threat to their health, quality of life and professional performance. To evaluate the prevalence of burnout syndrome in students of years 1 through 6 of medical school at a private university in northern Mexico. Cross-sectional study in the Escuela de Medicina Campus Laguna de la Universidad Autónoma de Durango. The one-dimensional scale of Burnout Student (EUBE) and the Maslach Burnout Inventory (MBI) were applied to the participants. SPSS 19 was used to analyze the data. Of the 344 students, 255 participated; 153 from years 1 to 3 (group 1); and 72 from years 4 to 6 (group 2). We found that 94.1% of the students of group 1 had mild burnout syndrome, and 2.8% had moderate burnout syndrome. In Group 2, 27.8% had moderate burnout syndrome, and 8.3% had severe burnout syndrome. The prevalence of severe burnout syndrome was higher in group 2 than in group 1 (p=0.02). Burnout syndrome affects medical students across all stages of their studies, and develops in a progressive way. In our study, external factors have no influence on the development of burnout syndrome.

  19. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  20. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  1. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  2. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  3. The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study.

    Science.gov (United States)

    Achelrod, Dmitrij; Blankart, Carl Rudolf; Linder, Roland; von Kodolitsch, Yskert; Stargardt, Tom

    2014-06-23

    Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To date, there has been no study analysing the costs of Marfan syndrome from a sickness fund and societal perspective. To estimate excess health resource utilisation, direct (non-)medical and indirect costs attributable to Marfan syndrome from a healthcare payer and a societal perspective in Germany in 2008. A retrospective matched cohort study design is applied, using claims data. For isolating the causal effect of Marfan syndrome on excess costs, a genetic matching algorithm was used to reduce differences in observable characteristics between Marfan syndrome patients and the control group. 892 patients diagnosed with Marfan syndrome (ICD-10 Q87.4) were matched from a pool of 26,645 control individuals. After matching, we compared health resource utilisation and costs. From the sickness fund perspective, an average Marfan syndrome patient generates excess annual costs of €2496 compared with a control individual. From the societal perspective, excess annual costs amount to €15,728. For the sickness fund, the strongest cost drivers are inpatient treatment and care by non-physicians. From the sickness fund perspective, the third (25-41 years) and first (0-16 years) age quartiles reveal the greatest surplus in total costs. Marfan syndrome patients have 39% more physician contacts, a 153% longer average length of hospital stay, 119% more inpatient stays, 33% more prescriptions, 236% more medical imaging and 20% higher average prescription costs than control individuals. Depending on the prevalence, the economic impact from the sickness fund perspective ranges between €24.0 million and €61.4 million, whereas the societal economic impact extends from €151.3 million to €386.9 million. Relative to its low frequency, Marfan syndrome requires high healthcare

  4. Epidemiology and outcomes of acute respiratory distress syndrome in children according to the Berlin definition: a multicenter prospective study.

    Science.gov (United States)

    Barreira, Eliane R; Munoz, Gabriela O C; Cavalheiro, Priscilla O; Suzuki, Adriana S; Degaspare, Natalia V; Shieh, Huei H; Martines, João A D S; Ferreira, Juliana C; Lane, Christianne; Carvalho, Werther B; Gilio, Alfredo E; Precioso, Alexander R

    2015-05-01

    In 2012, a new acute respiratory distress syndrome definition was proposed for adult patients. It was later validated for infants and toddlers. Our objective was to evaluate the prevalence, outcomes, and risk factors associated with acute respiratory distress syndrome in children up to 15 years according to the Berlin definition. A prospective, multicenter observational study from March to September 2013. Seventy-seven PICU beds in eight centers: two private hospitals and six public academic hospitals in Brazil. All children aged 1 month to 15 years admitted to the participating PICUs in the study period. None. All children admitted to the PICUs were daily evaluated for the presence of acute respiratory distress syndrome according to the American-European Consensus Conference and Berlin definitions. Of the 562 patients included, acute respiratory distress syndrome developed in 57 patients (10%) and 58 patients (10.3%) according to the Berlin definition and the American-European Consensus Conference definition, respectively. Among patients with acute respiratory distress syndrome according to the Berlin definition, nine patients (16%) were mild, 21 (37%) were moderate, and 27 (47%) were severe. Compared with patients without acute respiratory distress syndrome, patients with acute respiratory distress syndrome had significantly higher severity scores, longer PICU and hospital length of stay, longer duration of mechanical ventilation, and higher mortality (p < 0.001). The presence of two or more comorbidities and admission for medical reasons were associated with development of acute respiratory distress syndrome. Comparisons across the three the Berlin categories showed significant differences in the number of ventilator-free days (21, 20, and 5 d, p = 0.001) and mortality for severe acute respiratory distress syndrome (41%) in comparison with mild (0) and moderate (15%) acute respiratory distress syndrome(p = 0.02). No differences in PICU or hospital stay were

  5. Sjögren's syndrome in a 25-year-old female: A case study

    Directory of Open Access Journals (Sweden)

    Bacem A.E.O. Khalele

    2016-12-01

    Full Text Available Sjögren syndrome (SS is an autoimmune epithelitis characterized by lymphocytic glandular infiltration and various extraglandular manifestations. SS is usually encountered in middle-aged females (>50 years. Immunological, viral, hereditary, environmental and hormonal etiologic factors are controversially proposed with regard to the pathogenesis of SS with no upper hand given. The present study reports an atypical case of SS in a 25-year-old female who was closely followed up for three years. Being pregnant in 2015, SS ran a total remission course but did relapse more aggressively after delivery. Immunologically implicating, the possible interpretation, which may account for such a pathological fluctuation, is also tackled.

  6. Induced pluripotent stem cells as a cellular model for studying Down Syndrome

    Directory of Open Access Journals (Sweden)

    Brigida AL

    2016-11-01

    Full Text Available Down Syndrome (DS, or Trisomy 21 Syndrome, is one of the most common genetic diseases. It is a chromosomal abnormality caused by a duplication of chromosome 21. DS patients show the presence of a third copy (or a partial third copy of chromosome 21 (trisomy, as result of meiotic errors. These patients suffer of many health problems, such as intellectual disability, congenital heart disease, duodenal stenosis, Alzheimer's disease, leukemia, immune system deficiencies, muscle hypotonia and motor disorders. About one in 1000 babies born each year are affected by DS. Alterations in the dosage of genes located on chromosome 21 (also called HSA21 are responsible for the DS phenotype. However, the molecular pathogenic mechanisms of DS triggering are still not understood; newest evidences suggest the involvement of epigenetic mechanisms. For obvious ethical reasons, studies performed on DS patients, as well as on human trisomic tissues are limited. Some authors have proposed mouse models of this syndrome. However, not all the features of the syndrome are represented. Stem cells are considered the future of molecular and regenerative medicine. Several types of stem cells could provide a valid approach to offer a potential treatment for some untreatable human diseases. Stem cells also represent a valid system to develop new cell-based drugs and/or a model to study molecular disease pathways. Among stem cell types, patient-derived induced pluripotent stem (iPS cells offer some advantages for cell and tissue replacement, engineering and studying: self-renewal capacity, pluripotency and ease of accessibility to donor tissues. These cells can be reprogrammed into completely different cellular types. They are derived from adult somatic cells via reprogramming with ectopic expression of four transcription factors (Oct3/4, Sox2, c-Myc and Klf4; or, Oct3/4, Sox2, Nanog, and Lin28. By reprogramming cells from DS patients, it is possible to obtain new tissue with

  7. The Borderline Syndrome Index: a validation study using the personality assessment schedule.

    Science.gov (United States)

    Marlowe, M J; O'Neill-Byrne, K; Lowe-Ponsford, F; Watson, J P

    1996-01-01

    This study examines the validity and screening properties of the Borderline Syndrome Index--BSI (developed in the USA) for categories of the Personality Assessment Schedule--PAS (developed in the UK). Patients were recruited by case control sampling. Chance corrected agreement between instruments and screening properties of the BSI were calculated. The BSI proved a moderately sensitive but non-specific screen. Questionnaire scores were highly correlated with symptom measures. The results do not support the validity of the BSI or its use as a screening instrument. BSI scores may be distorted by current symptoms.

  8. Food protein-induced enterocolitis syndrome in Australia: A population-based study, 2012-2014.

    Science.gov (United States)

    Mehr, Sam; Frith, Katie; Barnes, Elizabeth H; Campbell, Dianne E

    2017-11-01

    Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal allergic disorder. Large population-based FPIES studies are lacking. We sought to determine the incidence and clinical characteristics of FPIES in Australian infants. An Australia-wide survey (2012-2014) was undertaken through the Australian Paediatric Surveillance Unit, with monthly notification of new cases of acute FPIES in infants aged less than 24 months by 1400 participating pediatricians. Two hundred thirty infants with FPIES were identified. The incidence of FPIES in Australian infants (disease and FPIES to fruits, vegetables, or both. Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

  9. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

    Science.gov (United States)

    Fleck, B J; Pandya, A; Vanner, L; Kerkering, K; Bodurtha, J

    2001-02-15

    To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. We performed a questionnaire study of patients ascertained through an international support group. Information on their sibs was available for comparison. The most frequent findings include some degree of mental retardation or developmental delay, "coarse" facial appearance, feeding difficulties, frequent infections, and hypoplastic to absent fifth fingernails and fifth distal phalanges. We discuss the key manifestations for diagnosis, medical and developmental implications, and possible pathogenesis. Copyright Wiley-Liss. Inc.

  10. Predictors of Plaque Rupture Within Nonculprit Fibroatheromas in Patients With Acute Coronary Syndromes: The PROSPECT Study.

    Science.gov (United States)

    Zheng, Bo; Mintz, Gary S; McPherson, John A; De Bruyne, Bernard; Farhat, Naim Z; Marso, Steven P; Serruys, Patrick W; Stone, Gregg W; Maehara, Akiko

    2015-10-01

    The study sought to examine the relative importance of lesion location versus vessel area and plaque burden in predicting plaque rupture within nonculprit fibroatheromas (FAs) in patients with acute coronary syndromes. Previous studies have demonstrated that plaque rupture is associated with larger vessel area and greater plaque burden clustering in the proximal segments of coronary arteries. In the PROSPECT (Providing Regional Observations to Study Predictors of Events in the Coronary Tree) study 3-vessel grayscale and radiofrequency-intravascular ultrasound was performed after successful percutaneous coronary intervention in 697 patients with acute coronary syndromes. Untreated nonculprit lesion FAs were classified as proximal (40 mm) according to the distance from the ostium to the maximum necrotic core site. Overall, 74 ruptured FAs and 2,396 nonruptured FAs were identified in nonculprit vessels. The majority of FAs (73.6%) were located within 40 mm of the ostium, and the vessel area and plaque burden progressively decreased from proximal to distal FA location (both p PROSPECT]; NCT00180466). Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  11. Cutaneous manifestations of polycystic ovary syndrome: A cross-sectional clinical study

    Directory of Open Access Journals (Sweden)

    Mohammad Abid Keen

    2017-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is one of the most common endocrine disorders in women, affecting 5–10% of reproductive-aged women. The dermatologic manifestations of hyperandrogenism, chiefly hirsutism, acne vulgaris, androgenic alopecia, and acanthosis nigricans, are among the cardinal manifestations of PCOS. Aim: To study the incidence and prevalence of various cutaneous manifestations in patients with PCOS and to correlate these skin manifestations with hormonal changes. Settings and Design: This study was conducted at a dermatology centre over a period of 1 year from November 2012 to 2013. Materials and Methods: The present study included 100 women diagnosed to have PCOS. Hormonal analysis as well as radiological assessment was done in all the cases. Cutaneous manifestations were ascertained and inferences were drawn. Statistical Analysis: Statistical analysis was carried out by the Chi-square test and independent samples t-test. Statistical significance was determined at a level of P < 0.05. Results: In our study, the prevalence of hirsutism, acne, female pattern hair loss, acanthosis nigricans, seborrhea, striae and acrochordons was 78%, 48%, 31%, 30%, 29%, 13%, and 9%, respectively. Conclusion: Dermatologic manifestations of PCOS play a significant role in making the diagnosis and constitute a substantial portion of the symptoms experienced by women with this syndrome.

  12. Electrophysiological effects of desflurane in children with Wolff-Parkinson-White syndrome: a randomized crossover study.

    Science.gov (United States)

    Hino, H; Oda, Y; Yoshida, Y; Suzuki, T; Shimada, M; Nishikawa, K

    2018-02-01

    We hypothesized that, compared with propofol, desflurane prolongs the antegrade accessory pathway effective refractory period (APERP) in children undergoing radiofrequency catheter ablation for Wolff-Parkinson-White (WPW) syndrome. In this randomized crossover study, children aged 4.1-16.1 years undergoing radiofrequency catheter ablation for WPW syndrome were randomly divided into four groups according to the concentration of desflurane and anesthetics used in the first and the second electrophysiological studies (EPS). After induction of general anesthesia with propofol and tracheal intubation, they received one of the following regimens: 0.5 minimum alveolar concentration (MAC) desflurane (first EPS) and propofol (second EPS) (Des0.5-Prop group, n = 8); propofol (first EPS) and 0.5 MAC desflurane (second EPS) (Prop-Des0.5 group, n = 9); 1 MAC desflurane (first EPS) and propofol (second EPS) (Des1.0-Prop group, n = 10); propofol (first EPS) and 1 MAC desflurane (second EPS) (Prop-Des1.0 group, n = 9). Radiofrequency catheter ablation was performed upon completion of EPS. Sample size was determined to detect a difference in the APERP. Desflurane at 1.0 MAC significantly prolonged the APERP compared with propofol, but did not affect the sinoatrial conduction time, atrio-His interval or atrioventricular node effective refractory period. Supraventricular tachycardia was induced in all children receiving propofol, but not induced in 1 and 4 children receiving 0.5 MAC and 1.0 MAC desflurane, respectively. Desflurane enhances the refractoriness and may block the electrical conduction of the atrioventricular accessory pathway, and is therefore not suitable for use in children undergoing radiofrequency catheter ablation for WPW syndrome. © 2017 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  13. Perfusion SPECT studies with mapping of Brodmann areas in differentiating Alzheimer's disease from frontotemporal degeneration syndromes.

    Science.gov (United States)

    Valotassiou, Varvara; Papatriantafyllou, John; Sifakis, Nikolaos; Tzavara, Chara; Tsougos, Ioannis; Kapsalaki, Eftychia; Hadjigeorgiou, George; Georgoulias, Panagiotis

    2012-12-01

    The aim of this study was to evaluate the contribution of brain perfusion single-photon emission computed tomography (SPECT) studies with mapping of Brodmann areas (BAs) in the differential diagnosis between Alzheimer's disease (AD) and frontotemporal degeneration (FTLD) syndromes. Thirty-nine patients with AD and 73 patients with FTLD syndromes [behavioural variant FTLD (bvFTLD); language variant FTLD (lvFTLD), including semantic dementia (SD) and progressive nonfluent aphasia (PNFA); and corticobasal degeneration (CBD)/progressive supranuclear palsy (PSP) syndromes] underwent brain perfusion SPECT. The NeuroGam software was used for the semiquantitative evaluation of perfusion in BAs of the left (L) and right (R) hemispheres. Compared with those in AD patients, BAs with statistically significant hypoperfusion were found in the prefrontal, orbitofrontal and cingulated cortices and Broca's areas of FTLD and bvFTLD patients; in the temporal and prefrontal cortices and Broca's areas of lvFTLD patients; in the left temporal gyrus of SD patients; in premotor and supplementary motor, prefrontal, orbitofrontal, temporal and anterior cingulated cortices and Broca's areas of PNFA patients; and in the prefrontal, temporal, posterior cingulated and primary and secondary visual cortices of CBD/PSP patients. BA 46R could differentiate AD patients from FTLD and bvFTLD patients; 21L and 25L were found to be independent predictors for lvFTLD in comparison with AD, and 25R, 21L and 23R could differentiate AD patients from PNFA, SD and CBD/PSP patients, respectively. Brain perfusion SPECT with BA mapping in AD and FTLD patients could improve the definition of brain areas that are specifically implicated in these disorders, resulting in a more accurate differential diagnosis.

  14. Change of International Restless Legs Syndrome Study Group Rating Scale subscales with treatment and placebo: a pilot study

    Directory of Open Access Journals (Sweden)

    Mitchell UH

    2014-02-01

    Full Text Available Ulrike H Mitchell,1 Sterling C Hilton2 1Brigham Young University, Department of Exercise Sciences, 2Department of Educational Leadership and Foundations, Provo, UT, USA Background: In 2003, the 10-question International Restless Legs Syndrome Study Group Rating Scale (IRLS was developed as a means of assessing the severity of restless legs syndrome. Two subscales were identified: symptom severity (SS 1 and symptom impact (SS 2. Only one study has investigated the subscales' responsiveness to a 12-week treatment with ropinirole. This current study was undertaken to assess the impact of a 4-week, non-pharmaceutical treatment on the two subscales and to explore whether or not both subscales were impacted by the observed placebo effect. Methods: The pooled data from questionnaires of 58 patients (41 from both treatment groups and 17 from the sham treatment control group, who participated in two clinical studies, were reviewed. Their change in score over a 4-week trial was computed. The average change in both subscales in both groups was computed and t-tests were performed. Results: In the treatment group, the average scores of both subscales changed significantly from baseline to week 4 (P<0.005 for both. Compared to the control, SS 1 changed (P<0.001, but not SS 2 (P=0.18. In the sham treatment group, the scores for SS 1 changed significantly (P=0.002, but not for SS 2 (P=0.2. Conclusion: This study corroborated findings from an earlier study in which both subscales changed with a 12-week drug treatment. It also showed that the observed placebo effect is attributed to a small but significant change in symptom severity, but not symptom impact. Keywords: restless legs syndrome, RLS severity scale, IRLS subscales, symptom impact, symptom severity

  15. Infrared thermography as a diagnostic tool to indicate sick-house-syndrome: a case-study

    Science.gov (United States)

    Ljungberg, Sven-Ake

    1996-03-01

    Every third child and many adults in Sweden have allergic reactions caused by indoor environmental problems. A lot of buildings constructed during the building-boom period of 1950 - 1990 expose the sick-house-syndrome, due to built-in moisture problems and poor ventilation performance of the building. Leaky building construction, transport of humid air condensing on thermal bridges within the construction gives rise to a humid environment, and forms a base for a microbial deterioration process of organic materials, with emissions hazardous for human health. So far there are no universal and cost efficient techniques or methods developed which could be used to reveal the sick-house-syndrome. In this paper we present the results of a case-study of the sick-house-syndrome, and an investigation concept with a combination of different techniques and methods to detect and to map underlying factors that form the base for microbial activities. The concept includes mobile and indoor thermography, functional control of ventilation systems, tracer gas techniques for measurement of air flow exchange rate in different rooms, microbial investigation of emissions, field inspections within the building construction and the building envelope, and medical investigation of the health status of the people working in the building. Mobile thermography of the exterior facades has been performed with a longwave AGEMA THV 900, respectively THV 1000 infrared system, during the period December 1994 - June 1995, at different and similar weather and radiation conditions, and with the building pressurized at one accession. Indoor thermography has been performed with a shortwave AGEMA THV 470 system, for a selection of objects/surfaces with thermal deviations, indicated in thermograms from the different mobile thermographic surveys. Functional control was performed for the ventilation systems, and air flow rates were measured using tracer gas technique for a selection of rooms with different

  16. Genetic and environmental relationships of metabolic and weight phenotypes to metabolic syndrome and diabetes: the healthy twin study.

    Science.gov (United States)

    Song, Yun-Mi; Sung, Joohon; Lee, Kayoung

    2015-02-01

    We aimed to examine the relationships, including genetic and environmental correlations, between metabolic and weight phenotypes and factors related to diabetes and metabolic syndrome. Participants of the Healthy Twin Study without diabetes (n=2687; 895 monozygotic and 204 dizygotic twins, and 1588 nontwin family members; mean age, 42.5±13.1 years) were stratified according to body mass index (BMI) (metabolic syndrome categories at baseline. The metabolic traits, namely diabetes and metabolic syndrome, metabolic syndrome components, glycated hemoglobin (HbA1c) level, and homeostasis model assessment of insulin resistance (HOMA-IR), were assessed after 2.5±2.1 years. In a multivariate-adjusted model, those who had metabolic syndrome or overweight phenotypes at baseline were more likely to have higher HbA1C and HOMA-IR levels and abnormal metabolic syndrome components at follow-up as compared to the metabolically healthy normal weight subgroup. The incidence of diabetes was 4.4-fold higher in the metabolically unhealthy but normal weight individuals and 3.3-fold higher in the metabolically unhealthy and overweight individuals as compared with the metabolically healthy normal weight individuals. The heritability of the metabolic syndrome/weight phenotypes was 0.40±0.03. Significant genetic and environmental correlations were observed between the metabolic syndrome/weight phenotypes at baseline and the metabolic traits at follow-up, except for incident diabetes, which only had a significant common genetic sharing with the baseline phenotypes. The genetic and environmental relationships between the metabolic and weight phenotypes at baseline and the metabolic traits at follow-up suggest pleiotropic genetic mechanisms and the crucial role of lifestyle and behavioral factors.

  17. Metabolic syndrome and salt sensitivity of blood pressure in non-diabetic people in China: a dietary intervention study.

    Science.gov (United States)

    Chen, Jing; Gu, Dongfeng; Huang, Jianfeng; Rao, Dabeeru C; Jaquish, Cashell E; Hixson, James E; Chen, Chung-Shiuan; Chen, Jichun; Lu, Fanghong; Hu, Dongsheng; Rice, Treva; Kelly, Tanika N; Hamm, L Lee; Whelton, Paul K; He, Jiang

    2009-03-07

    Since insulin resistance is thought to be the underlying mechanism for metabolic syndrome, affected individuals might be sensitive to a dietary sodium intervention. We aimed to examine the association between metabolic syndrome and salt sensitivity of blood pressure. 1906 Chinese participants without diabetes, aged 16 years or more, were selected to receive a low-sodium diet (51.3 mmol per day) for 7 days followed by a high-sodium diet (307.8 mmol per day) for an additional 7 days. Participants were excluded from the analysis if metabolic risk factor information was missing or if they did not complete their dietary interventions. Blood pressure was measured at baseline and on days 2, 5, 6, and 7 of each intervention. Metabolic syndrome was defined as the presence of three or more of: abdominal obesity, raised blood pressure, high triglyceride concentration, low HDL cholesterol, or high glucose. High salt sensitivity was defined as a decrease in mean arterial blood pressure of more than 5 mm Hg during low-sodium or an increase of more than 5 mm Hg during high-sodium intervention. This study is registered with ClinicalTrials.gov, number NCT00721721. Of the 1881 participants with information regarding metabolic syndrome, 283 had metabolic syndrome. 1853 participants completed the low-sodium diet and 1845 completed the high-sodium diet. Multivariable-adjusted mean changes in blood pressure were significantly greater in participants with metabolic syndrome than in those without on both low-sodium and high-sodium diets (plow-sodium and a 3.13-fold increased odds (1.80-5.43) of high salt-sensitivity during the high-sodium intervention. These results suggest that metabolic syndrome enhances blood pressure response to sodium intake. Reduction in sodium intake could be an especially important component in reducing blood pressure in patients with multiple risk factors for metabolic syndrome.

  18. Psychosocial outcome and psychiatric comorbidity in older adolescents with Tourette syndrome: controlled study

    DEFF Research Database (Denmark)

    Gorman, Daniel A; Thompson, Nancy; Plessen, Kerstin J

    2010-01-01

    BACKGROUND: Children with Tourette syndrome generally experience improvement of tics by age 18 years, but psychosocial and comorbidity outcomes at this age are unclear. AIMS: To compare psychosocial outcomes and lifetime comorbidity rates in older adolescents with Tourette syndrome and controls. We...... hypothesised a priori that individuals with Tourette syndrome would have lower Children's Global Assessment Scale (CGAS) scores. METHOD: A total of 65 individuals with Tourette syndrome, identified in childhood, and 65 matched community controls without tic or obsessive-compulsive disorder (OCD) symptoms were......, learning disorder and conduct disorder (Ptic severity. CONCLUSIONS: Clinically ascertained children with Tourette syndrome typically have impaired psychosocial functioning...

  19. Dyslipidaemia in woman with polycystic ovarian syndrome: A case control study in tertiary care hospital of Karachi

    International Nuclear Information System (INIS)

    Hussain, A.; Alam, J. M.

    2014-01-01

    Objective: To compare lipid profile in lean and obese women with polycystic ovary syndrome with normal weight and obese controls. Method: The case-control study was conducted at the Department of Chemical Pathology, Liaquat National Hospital, Karachi, from March 2006 to April 2007. It comprised 50 cases of polycystic ovary syndrome along with 50 healthy controls matching for age, gender and weight.. SPSS 14 was used for statistical analysis. Result: The mean fasting levels of triglyceride and Low density lipoprotein cholesterol were considerably higher in women with polycystic ovary syndrome than those in the control group (p < 0.05), while high-density lipoprotein cholesterol was significantly low in patients than the controls (p <0.001). Obese patients had high triglyceride value (p < 0.05). There was significant interaction between polycystic ovary syndrome, obesity and triglyceride levels (p < 0.05). Conclusion: Polycystic ovary syndrome is associated with a more pronounced atherogenic lipid profile. Lipid parameters were adversely affected in a subgroup that was obese. As such, women with polycystic ovary syndrome are at high risk of developing cardiovascular disease due to the presence of dyslipidaemia. (author)

  20. Lactobacillus casei Shirota Supplementation Does Not Restore Gut Microbiota Composition and Gut Barrier in Metabolic Syndrome: A Randomized Pilot Study.

    Directory of Open Access Journals (Sweden)

    Vanessa Stadlbauer

    Full Text Available Metabolic syndrome is associated with disturbances in gut microbiota composition. We aimed to investigate the effect of Lactobacillus casei Shirota (LcS on gut microbiota composition, gut barrier integrity, intestinal inflammation and serum bile acid profile in metabolic syndrome. In a single-centre, prospective, randomised controlled pilot study, 28 subjects with metabolic syndrome received either LcS for 12 weeks (n = 13 or no LcS (n = 15. Data were compared to healthy controls (n = 16. Gut microbiota composition was characterised from stool using 454 pyrosequencing of 16S rRNA genes. Serum bile acids were quantified by tandem mass spectrometry. Zonulin and calprotectin were measured in serum and stool by ELISA. Bacteroidetes/Firmicutes ratio was significantly higher in healthy controls compared to metabolic syndrome but was not influenced by LcS. LcS supplementation led to enrichment of Parabacteroides. Zonulin and calprotectin were increased in metabolic syndrome stool samples but not influenced by LcS supplementation. Serum bile acids were similar to controls and not influenced by LcS supplementation. Metabolic syndrome is associated with a higher Bacteroidetes/Firmicutes ratio and gut barrier dysfunction but LcS was not able to change this. LcS administration was associated with subtle microbiota changes at genus level.ClinicalTrials.gov NCT01182844.

  1. Age as a Risk Factor for Burnout Syndrome in Nursing Professionals: A Meta-Analytic Study.

    Science.gov (United States)

    Gómez-Urquiza, José L; Vargas, Cristina; De la Fuente, Emilia I; Fernández-Castillo, Rafael; Cañadas-De la Fuente, Guillermo A

    2017-04-01

    Although past research has highlighted the possibility of a direct relationship between the age of nursing professionals and burnout syndrome, results have been far from conclusive. The aim of this study was to conduct a wider analysis of the influence of age on the three dimensions of burnout syndrome (emotional exhaustion, depersonalization, and personal accomplishment) in nurses. We performed a meta-analysis of 51 publications extracted from health sciences and psychology databases that fulfilled the inclusion criteria. There were 47 reports of information on emotional exhaustion in 50 samples, 39 reports on depersonalization for 42 samples, and 31 reports on personal accomplishment in 34 samples. The mean effect sizes indicated that younger age was a significant factor in the emotional exhaustion and depersonalization of nurses, although it was somewhat less influential in the dimension of personal accomplishment. Because of heterogeneity in the effect sizes, moderating variables that might explain the association between age and burnout were also analyzed. Gender, marital status, and study characteristics moderated the relationship between age and burnout and may be crucial for the identification of high-risk groups. More research is needed on other variables for which there were only a small number of studies. Identification of burnout risk factors will facilitate establishment of burnout prevention programs for nurses. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Markers of atherosclerosis in patients with Cushing's syndrome: a meta-analysis of literature studies.

    Science.gov (United States)

    Lupoli, Roberta; Ambrosino, Pasquale; Tortora, Anna; Barba, Livia; Lupoli, Gelsy Arianna; Di Minno, Matteo Nicola Dario

    2017-05-01

    Several studies reported an increased cardiovascular (CV) risk in Cushing's syndrome (CS). We performed a meta-analysis on the impact of CS on major markers of atherosclerosis. Studies on intima-media thickness (IMT), carotid plaques prevalence, and flow-mediated dilation (FMD) in CS patients and controls were searched in the PubMed, Web of Science, Scopus, and EMBASE. Differences between cases and controls were expressed as mean difference (MD) with 95% confidence intervals (95%CI) for continuous variables, and as Odds Ratio (OR) with 95%CI for dichotomous variables. Fourteen studies (332 CS, 462 controls) were included. Compared with controls, CS patients showed higher IMT (MD: 0.20 mm; 95% CI: 0.12, 0.28; p Cushing's syndrome (CS). In the present meta-analysis we demonstrated that CS is associated with an increased intima-media thickness, higher prevalence of carotid plaques, and lower flow-mediated dilation as compared with controls. These data consistently suggest the need for a strict monitoring of early signs of subclinical atherosclerosis in CS patients.

  3. Photoanthropometric study of dysmorphic features of the face in children with autism and asperger syndrome.

    Science.gov (United States)

    Gorczyca, Piotr; Kapinos-Gorczyca, Agnieszka; Ziora, Katarzyna; Oświęcimska, Joanna

    2012-01-01

    Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome. The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al. The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose) which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature. Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  4. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

    Directory of Open Access Journals (Sweden)

    Katarzyna Ziora

    2012-04-01

    Full Text Available Objective: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome . Methods: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome. The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al . Results: The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. Discussion: In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature . Conclusion: Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  5. A nationwide register study of the characteristics, incidence and validity of diagnosed Tourette syndrome and other tic disorders.

    Science.gov (United States)

    Leivonen, Susanna; Voutilainen, Arja; Hinkka-Yli-Salomäki, Susanna; Timonen-Soivio, Laura; Chudal, Roshan; Gissler, Mika; Huttunen, Jukka; Sourander, Andre

    2014-09-01

    The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register. Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians. The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%. This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  6. Follow-up brain imaging of 37 children with congenital Zika syndrome: case series study.

    Science.gov (United States)

    Petribu, Natacha Calheiros de Lima; Aragao, Maria de Fatima Vasco; van der Linden, Vanessa; Parizel, Paul; Jungmann, Patricia; Araújo, Luziany; Abath, Marília; Fernandes, Andrezza; Brainer-Lima, Alessandra; Holanda, Arthur; Mello, Roberto; Sarteschi, Camila; Duarte, Maria do Carmo Menezes Bezerra

    2017-10-13

    Objective  To compare initial brain computed tomography (CT) scans with follow-up CT scans at one year in children with congenital Zika syndrome, focusing on cerebral calcifications. Design  Case series study. Setting  Barão de Lucena Hospital, Pernambuco state, Brazil. Participants  37 children with probable or confirmed congenital Zika syndrome during the microcephaly outbreak in 2015 who underwent brain CT shortly after birth and at one year follow-up. Main outcome measure  Differences in cerebral calcification patterns between initial and follow-up scans. Results  37 children were evaluated. All presented cerebral calcifications on the initial scan, predominantly at cortical-white matter junction. At follow-up the calcifications had diminished in number, size, or density, or a combination in 34 of the children (92%, 95% confidence interval 79% to 97%), were no longer visible in one child, and remained unchanged in two children. No child showed an increase in calcifications. The calcifications at the cortical-white matter junction which were no longer visible at follow-up occurred predominately in the parietal and occipital lobes. These imaging changes were not associated with any clear clinical improvements. Conclusion  The detection of cerebral calcifications should not be considered a major criterion for late diagnosis of congenital Zika syndrome, nor should the absence of calcifications be used to exclude the diagnosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

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    Ali Aydin

    Full Text Available Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±15 years with Marfan syndrome caused by FBN1 mutations. We assessed ventricular arrhythmia on baseline ambulatory electrocardiography as >10 premature ventricular complexes per hour (>10 PVC/h, as ventricular couplets (Couplet, or as non-sustained ventricular tachycardia (nsVT, and during 31±18 months of follow-up as ventricular tachycardia (VT events (VTE such as sudden cardiac death (SCD, and sustained ventricular tachycardia (sVT. We identified >10 PVC/h in 28 (35%, Couplet/nsVT in 32 (40%, and VTE in 6 patients (8%, including 3 with SCD (4%. PVC>10/h, Couplet/nsVT, and VTE exhibited increased N-terminal pro-brain natriuretic peptide serum levels(P10/h and Couplet/nsVT also related to increased indexed end-systolic LV diameters (P = .024 and P = .020, to moderate mitral valve regurgitation (P = .018 and P = .003, and to prolonged QTc intervals (P = .001 and P = .006, respectively. Moreover, VTE related to mutations in exons 24-32 (P = .021. Kaplan-Meier analysis corroborated an association of VTE with increased NT-proBNP (P<.001 and with mutations in exons 24-32 (P<.001.Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring. Ventricular arrhythmia on electrocardiography, signs of myocardial dysfunction and mutations in exons 24-32 may be risk factors of VTE.

  8. Computer vision syndrome: A study of the knowledge, attitudes and practices in Indian Ophthalmologists

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    Bali Jatinder

    2007-01-01

    Full Text Available Purpose: To study the knowledge, attitude and practices (KAP towards computer vision syndrome prevalent in Indian ophthalmologists and to assess whether ′computer use by practitioners′ had any bearing on the knowledge and practices in computer vision syndrome (CVS. Materials and Methods: A random KAP survey was carried out on 300 Indian ophthalmologists using a 34-point spot-questionnaire in January 2005. Results: All the doctors who responded were aware of CVS. The chief presenting symptoms were eyestrain (97.8%, headache (82.1%, tiredness and burning sensation (79.1%, watering (66.4% and redness (61.2%. Ophthalmologists using computers reported that focusing from distance to near and vice versa ( P =0.006, χ2 test, blurred vision at a distance ( P =0.016, χ2 test and blepharospasm ( P =0.026, χ2 test formed part of the syndrome. The main mode of treatment used was tear substitutes. Half of ophthalmologists (50.7% were not prescribing any spectacles. They did not have any preference for any special type of glasses (68.7% or spectral filters. Computer-users were more likely to prescribe sedatives/ anxiolytics ( P = 0.04, χ2 test, spectacles ( P = 0.02, χ2 test and conscious frequent blinking ( P = 0.003, χ2 test than the non-computer-users. Conclusions: All respondents were aware of CVS. Confusion regarding treatment guidelines was observed in both groups. Computer-using ophthalmologists were more informed of symptoms and diagnostic signs but were misinformed about treatment modalities.

  9. 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 ...

  10. 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), ...

  11. Study habits among Nigerian secondary school students with brain fag syndrome

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    Olufemi Morakinyo

    2010-01-01

    Full Text Available Brain Fag Syndrome (BFS is a psychiatric disorder associated with study affecting two to four out of every ten African students. One of the consequences of this illness is early foreclosure of education in affected students. Etiological factors such as nervous predisposition, motivation for achievement, and psycho-stimulant use have been found associated with it. However, the contributions of study habits to the pathogenesis of this study-related illness deserve more attention than has been given. We carried out this cross-sectional study to ascertain the types of study habits associated with BFS among a sample of senior secondary school students in Ile-Ife, Nigeria. Five hundred students from six schools in Ile-Ife were selected using a stratified random sampling technique. The selected students completed the Socio-demographic Data Schedule, the Brain Fag Syndrome Scale, and Bakare’s Study Habit Inventory. The prevalence of BFS was 40.2% (201. There were no significant socio-demographic variables identifying BFS students apart from those without BFS. The significant measures of study habits that predicted BFS were homework and assignments, examinations, and written work. Those with BFS had 3.58 times the odds to perform poorly on homework and assignments, 3.27 times the odds to perform poorly on examinations, and 1.01 times the odds to perform poorly on written work compared to those without BFS. We concluded that the results of this study suggest that homework and assignments, examinations, and written work were significant study habit variables associated with BFS.

  12. Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population

    Energy Technology Data Exchange (ETDEWEB)

    Fan, Hongmin [Cancer Center, School of Public Health, West Virginia University, Morgantown, WV 265050-9190 (United States); Department of Epidemiology and Statistics, School of Public Health, Hebei United University, Hebei 063000 (China); Ducatman, Alan [Department of Occupational and Environmental Health, School of Public Health, West Virginia University (United States); Department of Medicine, School of Medicine, West Virginia University (United States); Clinical Translational Science Institute, West Virginia University (United States); Zhang, Jianjun [Department of Biostatistics, School Public Health, West Virginia University (United States)

    2014-11-15

    Background: Gilbert syndrome (GS) is an inherited defect of bilirubin conjugation, most commonly caused by a gene mutation for the enzyme UGT1A. GS is known to affect the metabolism and excretion of drugs and xenobiotics. Perfluorocarbon compounds (PFCs) are bio-persistent environmental contaminants that affect metabolic regulation. In this study, we examined the associations of GS phenotype and serum PFCs in the C8 Health Study Population. Materials and methods: Using 2005–2006 data from a large PFC-exposure population survey, we compared serum PFCs concentrations between GS and non GS clinical phenotypes, in a cross sectional design, adjusting for standard risk factors, including age, BMI, smoking status, socioeconomic status and gender. Results: Among 10 PFC compounds considered, only perfluorohexanoic acid (PFHxA) was seen at a significantly higher concentration in GS men and women. Conclusion: PFHxA exposure may be associated with GS. Our findings do not support increased exposure in GS for other PFCs. - Highlights: • Most serum PFCs are not associated with clinically evident Gilbert syndrome. • However, serum perfluorohexanoic acid is positively associated. • The investigation addresses the clinical presentation, not the genetic mutation.

  13. Hantavirus Pulmonary Syndrome in Santa Cruz, Bolivia: Outbreak Investigation and Antibody Prevalence Study

    Science.gov (United States)

    Montgomery, Joel M.; Blair, Patrick J.; Carroll, Darin S.; Mills, James N.; Gianella, Alberto; Iihoshi, Naomi; Briggiler, Ana M.; Felices, Vidal; Salazar, Milagros; Olson, James G.; Glabman, Raisa A.; Bausch, Daniel G.

    2012-01-01

    We report the results of an investigation of a small outbreak of hantavirus pulmonary syndrome in 2002 in the Department of Santa Cruz, Bolivia, where the disease had not previously been reported. Two cases were initially reported. The first case was a physician infected with Laguna Negra virus during a weekend visit to his ranch. Four other persons living on the ranch were IgM antibody-positive, two of whom were symptomatic for mild hantavirus pulmonary syndrome. The second case was a migrant sugarcane worker. Although no sample remained to determine the specific infecting hantavirus, a virus 90% homologous with Río Mamoré virus was previously found in small-eared pygmy rice rats (Oligoryzomys microtis) trapped in the area. An antibody prevalence study conducted in the region as part of the outbreak investigation showed 45 (9.1%) of 494 persons to be IgG positive, illustrating that hantavirus infection is common in Santa Cruz Department. Precipitation in the months preceding the outbreak was particularly heavy in comparison to other years, suggesting a possible climatic or ecological influence on rodent populations and risk of hantavirus transmission to humans. Hantavirus infection appears to be common in the Santa Cruz Department, but more comprehensive surveillance and field studies are needed to fully understand the epidemiology and risk to humans. PMID:23094116

  14. TRANSCUTANEOUS ELECTRIC NERVE STIMULATION IN MODULATION OF PAIN OF TENDER POINTS IN SYNDROME FIBROMYALGIA: CASE STUDY

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    Isabel Mara Magalhães Rori

    2008-08-01

    Full Text Available The Fibromyalgia is a syndrome of pain and chronic diffuse, characterized by the presence of at least 11 of 18 points called anatomically specific tender points, painful on palpation. As the pain diffuse the main symptom of fibromyalgia. The current treatment is focused mainly to the reduction of symptoms. Physiotherapy has animportant role in improving the control of pain. This study aimed to verify the effectiveness of the main TENS of low frequency and high intensity in modulating pain of tender points of patients with fibromyalgia. For this was a case study of patient R. S. S., 38-yearold female carrier of the syndrome of fibromyalgia attended school in the clinic of the Faculty of Integrated Ceará (FISIOFIC. The patient was treated with the TENS-pain Acupuncture points in a total of twelve care and pain assessed before starting treatment and after three attendants. There was a significant reduction in pain intensity at 77.7% of the tender points in the second evaluation and 88.8% of the points in the other assessments. It was concluded that there was a reduction in the pain of tender points of the patient showing the analgesia promoted by TENS, so it should be used as a complementary treatment programs associated with other treatments and also served as a good technique to locate the tender points.

  15. Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.

    Science.gov (United States)

    Van Tongerloo, A; De Paepe, A

    1998-01-01

    We conducted a pilot study to evaluate the psychological effects and consequences of Marfan syndrome in 17 patients between 16 and 35 years of age. Through a semi-structured interview, we investigated how the patients coped daily with Marfan syndrome and evaluated the impact of the disease on specific items such as schooling, occupational choices, self-image, and social behaviour. A second part of the study consisted of a battery of standardised psychological tests to evaluate the patients' anxiety and depression levels and coping styles. The following psychological tests were used: State and Trait Anxiety Inventory (STAI), Beck Depression Inventory (BDI), and the Utrecht Coping List (UCL). The interviews showed that the disease represented a significant burden on the daily physical activities of the patients, as well as on their schooling and job opportunities. During childhood, most of them were insensitively teased by peers because of their typical phenotypic features. This had its consequences on their social behaviour in that they are all more introvert. In the female patients, the risk associated with child bearing represented a major concern. Most patients emphasised the need for accurate information about the illness immediately after knowing the diagnosis and all found psychological support helpful. Depression and anxiety levels were higher in the female than in the male group, without being significantly different from the normal population. Nevertheless, most patients have come to terms with their disease and consider themselves happy most of the time. PMID:9610804

  16. Shrinking lung syndrome as a manifestation of pleuritis: a new model based on pulmonary physiological studies.

    Science.gov (United States)

    Henderson, Lauren A; Loring, Stephen H; Gill, Ritu R; Liao, Katherine P; Ishizawar, Rumey; Kim, Susan; Perlmutter-Goldenson, Robin; Rothman, Deborah; Son, Mary Beth F; Stoll, Matthew L; Zemel, Lawrence S; Sandborg, Christy; Dellaripa, Paul F; Nigrovic, Peter A

    2013-03-01

    The pathophysiology of shrinking lung syndrome (SLS) is poorly understood. We sought to define the structural basis for this condition through the study of pulmonary mechanics in affected patients. Since 2007, most patients evaluated for SLS at our institutions have undergone standardized respiratory testing including esophageal manometry. We analyzed these studies to define the physiological abnormalities driving respiratory restriction. Chest computed tomography data were post-processed to quantify lung volume and parenchymal density. Six cases met criteria for SLS. All presented with dyspnea as well as pleurisy and/or transient pleural effusions. Chest imaging results were free of parenchymal disease and corrected diffusing capacities were normal. Total lung capacities were 39%-50% of predicted. Maximal inspiratory pressures were impaired at high lung volumes, but not low lung volumes, in 5 patients. Lung compliance was strikingly reduced in all patients, accompanied by increased parenchymal density. Patients with SLS exhibited symptomatic and/or radiographic pleuritis associated with 2 characteristic physiological abnormalities: (1) impaired respiratory force at high but not low lung volumes; and (2) markedly decreased pulmonary compliance in the absence of identifiable interstitial lung disease. These findings suggest a model in which pleural inflammation chronically impairs deep inspiration, for example through neural reflexes, leading to parenchymal reorganization that impairs lung compliance, a known complication of persistently low lung volumes. Together these processes could account for the association of SLS with pleuritis as well as the gradual symptomatic and functional progression that is a hallmark of this syndrome.

  17. Restless Legs Syndrome in shift workers: A cross sectional study on male assembly workers

    Directory of Open Access Journals (Sweden)

    Rahimi Mohsen

    2009-09-01

    Full Text Available Abstract Background Restless Legs Syndrome (RLS is a common neurological movement disorder characterized by symptoms that follow a circadian pattern. Night and rotating shift work schedules exert adverse effects on functions of the human body by disturbing circadian rhythms, and they are known to cause sleep disturbances and insomnia. In this paper, we investigate the possible association between shift work and RLS. Methods This cross sectional study was conducted in an automobile manufacturing factory in Tehran, Iran. A total of 780 male assembly workers were recruited in three groups, each with 260 workers: workers on a permanent morning shift (A and two different rotating shift schedules (B and C with morning, afternoon and night shifts. We used the international RLS study group criteria for diagnosis of RLS, and the severity scale for severity assessment in subjects with RLS. Self administered questionnaires were used to gather information on age, smoking, work history, medical condition, and existence and severity of RLS symptoms. Results The prevalence of RLS was significantly higher in rotational shift workers (15% than workers with permanent morning work schedule (8.5%. In workers suffering from RLS, we found greater mean values of age and work experience, higher percentages of drug consumption, smoking, and co-morbid illnesses compared with subjects who did not have RLS, although these differences were statistically significant only for age, work experience and drug consumption. Conclusion Rotational shift work acts as a risk or exacerbating factor for Restless Legs Syndrome.

  18. A 4-year prospective study of eating disorder NOS compared with full eating disorder syndromes.

    Science.gov (United States)

    Agras, W Stewart; Crow, Scott; Mitchell, James E; Halmi, Katherine A; Bryson, Susan

    2009-09-01

    To examine the course of Eating Disorder NOS (EDNOS) compared with anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED). Prospective study of 385 participants meeting DSM-IV criteria for AN, BN, BED, and EDNOS at three sites. Recruitment was from the community and specialty clinics. Participants were followed at 6-month intervals during a 4-year period using the Eating Disorder Examination as the primary assessment. EDNOS remitted significantly more quickly that AN or BN but not BED. There were no differences between EDNOS and full ED syndromes, or the subtypes of EDNOS, in time to relapse following first remission. Only 18% of the EDNOS group had never had or did not develop another ED diagnosis during the study; however, this group did not differ from the remaining EDNOS group. EDNOS appears to be a way station between full ED syndromes and recovery, and to a lesser extent from recovery or EDNOS status to a full ED. Implications for DSM-V are examined.

  19. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarif......Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet......, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

  20. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

    Science.gov (United States)

    van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

    2016-10-01

    To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  1. Study on the strength development level in children with Down syndrome

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    Valeria BĂLAN

    2017-03-01

    Full Text Available Children diagnosed with Down syndrome can live an almost normal life if they benefit from appropriate care and the application of specialized intervention programs. Among the clinical features encountered in these children, we can mention the deficit in strength that affects them at different degrees. This study valorizes the results obtained in the initial testing – five strength-related items – by the three children with Down syndrome included in a post PhD research. This paper is made and published under the aegis of the National University of Physical Education and Sports from Bucharest, as a partner of program co-funded by the European Social Fund within the Operational Sectorial Program for Human Resources Development 2007-2013 through the project Pluri- and interdisciplinary in doctoral and post-doctoral programs Project Code: POSDRU/159/1.5/S/141086, its main beneficiary being the Research Institute for Quality of Life, Romanian Academy.The performances of our subjects are compared with the arithmetical mean of the results obtained in the initial testing by V. Şuţă (2010, on pupils (boys and girls of the same age as our subjects – 13 years old. Finally, we drew the conclusion that the subjects of our study seldom reached and/or exceeded the data taken as a reference.

  2. Restless Legs Syndrome in shift workers: A cross sectional study on male assembly workers.

    Science.gov (United States)

    Sharifian, Akbar; Firoozeh, Marjan; Pouryaghoub, Gholamreza; Shahryari, Mehran; Rahimi, Mohsen; Hesamian, Mohammad; Fardi, Ali

    2009-09-14

    Restless Legs Syndrome (RLS) is a common neurological movement disorder characterized by symptoms that follow a circadian pattern. Night and rotating shift work schedules exert adverse effects on functions of the human body by disturbing circadian rhythms, and they are known to cause sleep disturbances and insomnia. In this paper, we investigate the possible association between shift work and RLS. This cross sectional study was conducted in an automobile manufacturing factory in Tehran, Iran. A total of 780 male assembly workers were recruited in three groups, each with 260 workers: workers on a permanent morning shift (A) and two different rotating shift schedules (B and C) with morning, afternoon and night shifts. We used the international RLS study group criteria for diagnosis of RLS, and the severity scale for severity assessment in subjects with RLS. Self administered questionnaires were used to gather information on age, smoking, work history, medical condition, and existence and severity of RLS symptoms. The prevalence of RLS was significantly higher in rotational shift workers (15%) than workers with permanent morning work schedule (8.5%). In workers suffering from RLS, we found greater mean values of age and work experience, higher percentages of drug consumption, smoking, and co-morbid illnesses compared with subjects who did not have RLS, although these differences were statistically significant only for age, work experience and drug consumption. Rotational shift work acts as a risk or exacerbating factor for Restless Legs Syndrome.

  3. [Influence of trigeminal nerve lesion on facial growth: study of two cases of Goldenhar syndrome].

    Science.gov (United States)

    Darris, Pierre; Treil, Jacques; Marchal-Sixou, Christine; Baron, Pascal

    2015-06-01

    This cases report confirms the hypothesis that embryonic and maxillofacial growth are influenced by the peripheral nervous system, including the trigeminal nerve (V). So, it's interesting to use the stigma of the trigeminal nerve as landmarks to analyze the maxillofacial volume and understand its growth. The aim of this study is to evaluate the validity of the three-dimensional cephalometric analysis of Treil based on trigeminal landmarks. The first case is a caucasian female child with Goldenhar syndrome. The second case is a caucasian male adult affected by the same syndrome. In both cases, brain MRI showed an unilateral trigeminal nerve lesion, ipsilateral to the facial dysmorphia. The results of this radiological study tend to prove the primary role of the trigeminal nerve in craniofacial growth. These cases demonstrate the validity of the theory of Moss. They are one of anatomo-functional justifications of the three-dimensional cephalometric biometry of Treil based on trigeminal nerve landmarks. © EDP Sciences, SFODF, 2015.

  4. DHAT SYNDROME AND ITS ASSOCIATION WITH SEXUAL BEHAVIOR AND PYSCHIATRIC COMORBIDITIES IN MALES: A CASE CONTROL STUDY

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    Sahu RN, Sharma VK, Ashutosh Kumar, Chintan Bavishi, Balaji More

    2015-01-01

    Full Text Available Background: Dhat syndrome is often taken as culture bound syndrome (CBS of Indian subcontinent. There are many misconceptions which form base of symptoms and co morbidities. Aim: Dhat syndrome is reported on basis of self diagnosis. The study aims to study associated symptoms, sexual behavior and co morbidities in Indian population. Material and Methods: This cross-sectional and case-control study was carried with help of trained local interviewers at Department of Psychiatry and Medicine, Gandhi Medical College (GMC, Associated Hamidia Hospital, Bhopal, India. Cases were compared to healthy matched controls. The study was conducted using clinical interview, physical examination and other necessary investigations like urine analysis and microscopy. Results: Of the 50 cases and control, each, age group was 21 to 25 years (48% and education upto12th class (60%. 20% cases reported history of Masturbation. Extramarital or premarital sexual contact was found to have little significance on the syndrome. 76% of the patients met DSM-IV Diagnostic Criteria for Anxiety and 56% patients met for Depression. 23 patients (46.3% were having a co-morbid somatic complains like body ache, weakness and fatigue. Erectile dysfunction by 34% & premature ejaculation by 8% was reported. In Urine routine analysis and microscope no oxalates or phosphates were noted. Conclusions: Dhat syndrome is more common among low educated young population. Laboratory evidence of any pathological cause was not found. Contrary to popular belief, it had no direct correlation with masturbation and pre and extra marital sexual contact.

  5. Sodium Hypochlorite-Modified Hemosorbents in the Treatment of Limb Ischemia-Reperfusion Syndrome: Experimental Study

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    V. I. Sergiyenko

    2007-01-01

    Full Text Available Objective: to enhance the efficiency of treatment for limb ischemia-reperfusion syndrome in an experiment, by using the modified hemosorbents that have oxidative properties.Materials and methods. The investigation was conducted on 94 mongrel male dogs divided into 3 groups: 1 intact animals (n=20; 2 animals treated with hemocarboperfusion on the standard sorbent CKH-1K (n=36; 3 animals received hemocarboperfusion on sodium hypochloride-modified sorbent CKH-1K (n=38. A model of acute ischemia-reperfusion syndrome was created by the method of V. D. Pasechnikov et al. Partial oxygen tension (pO2 was determined by pin polarography. The levels of vasoactive eicosanoids were measured by enzyme immunoassay.Results. In the animals with leg ischemia syndrome, there is a significant pO2 reduction in the muscles of the hip and shin, which does not completely recover after reperfusion. Standard CKN-1K sorbent hemocarboperfusion reduces pO2 as compared with the reperfusion period while the use of modified CKH-1K hemosorbent increased pO2 in the study hind limb muscles to the level observed in intact animals. The development of ischemia and reperfusion is accompanied by the elevated levels of inflammatory mediators that have vasoconstrictive properties (thromboxane B2, endothelin-1, leukotrienes C4/D4/E4 and the lower concentration of the vasodilator prostacyclin. Standard CKN-1K sorbent hemocarboperfusion results in a further increase in the concentrations of thromboxane B2 and leukotrienes C4/D4/E4, a decrease in the concentration of endothelin-1, and an elevation of the levels of prostacyclin and prostaglandin E2. When sodium hypochlorite-modified CKN-1K sorbent hemocarboperfusion is employed, the concentrations of thromboxane B2, endothelin-1, and leukotrienes C4/D4/E4 decrease, and the level of prostacyclin increases.Conclusion. Hemocarboperfusion used in the treatment of leg ischemia-reperfusion syndrome leads to restoration of tissue oxygenation and

  6. Frailty syndrome in an independent urban population in Brazil (FIBRA study: a cross-sectional populational study

    Directory of Open Access Journals (Sweden)

    Larissa Barradas Calado

    Full Text Available ABSTRACT: CONTEXT AND OBJECTIVE: Frailty is a multifactorial syndrome. The aim of this study was to determine the prevalence and characteristics of frailty syndrome in an elderly urban population. DESIGN AND SETTING: Cross-sectional study carried out at the homes of a randomized sample representing the independent elderly individuals of Ribeirão Preto, Brazil. METHODS: Sociodemographic characteristics, clinical data and criteria of the frailty phenotype were obtained at the subjects' homes; 385 individuals were evaluated. Frailty was defined based on detection of weight loss, exhaustion, weakness, slowness and low physical activity level. Individuals with three or more of these characteristics were classified as frail and those with one or two as pre-frail. Specific cutoff points for weakness, slowness and low physical activity level were calculated. RESULTS: The participants' mean age was 73.9 ± 6.5 years, and 64.7% were women. 12.5% had lost weight over the last year; 20.5% showed exhaustion, 17.1% slowness, 24.4% low physical activity level and 20.5% weakness. 9.1% were considered frail and 49.6% pre-frail. Frail subjects were older, attended more medical visits, had a higher chance of hospitalization within the last 12 months and had more cerebrovascular events, diabetes, neoplasms, osteoporosis and urinary and fecal incontinence. CONCLUSION: In this independent elderly population, there were numerous frail and pre-frail individuals. Frailty syndrome was associated with high morbidity. Cutoff points for weakness, slowness and low physical activity level should be adjusted for the population under study. It is essential to identify frail and pre-frail older individuals for appropriate interventions.

  7. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  8. Using Social Media Data to Understand the Impact of Promotional Information on Laypeople's Discussions: A Case Study of Lynch Syndrome.

    Science.gov (United States)

    Bian, Jiang; Zhao, Yunpeng; Salloum, Ramzi G; Guo, Yi; Wang, Mo; Prosperi, Mattia; Zhang, Hansi; Du, Xinsong; Ramirez-Diaz, Laura J; He, Zhe; Sun, Yuan

    2017-12-13

    Social media is being used by various stakeholders among pharmaceutical companies, government agencies, health care organizations, professionals, and news media as a way of engaging audiences to raise disease awareness and ultimately to improve public health. Nevertheless, it is unclear what effects this health information has on laypeople. This study aimed to provide a detailed examination of how promotional health information related to Lynch syndrome impacts laypeople's discussions on a social media platform (Twitter) in terms of topic awareness and attitudes. We used topic modeling and sentiment analysis techniques on Lynch syndrome-related tweets to answer the following research questions (RQs): (1) what are the most discussed topics in Lynch syndrome-related tweets?; (2) how promotional Lynch syndrome-related information on Twitter affects laypeople's discussions?; and (3) what impact do the Lynch syndrome awareness activities in the Colon Cancer Awareness Month and Lynch Syndrome Awareness Day have on laypeople's discussions and their attitudes? In particular, we used a set of keywords to collect Lynch syndrome-related tweets from October 26, 2016 to August 11, 2017 (289 days) through the Twitter public search application programming interface (API). We experimented with two different classification methods to categorize tweets into the following three classes: (1) irrelevant, (2) promotional health information, and (3) laypeople's discussions. We applied a topic modeling method to discover the themes in these Lynch syndrome-related tweets and conducted sentiment analysis on each layperson's tweet to gauge the writer's attitude (ie, positive, negative, and neutral) toward Lynch syndrome. The topic modeling and sentiment analysis results were elaborated to answer the three RQs. Of all tweets (N=16,667), 87.38% (14,564/16,667) were related to Lynch syndrome. Of the Lynch syndrome-related tweets, 81.43% (11,860/14,564) were classified as promotional and 18

  9. Association between alpha-fetoprotein and metabolic syndrome in a Chinese asymptomatic population: a cross-sectional study.

    Science.gov (United States)

    Chen, Yimin; Zhao, Ying; Feng, Linmin; Zhang, Jie; Zhang, Juanwen; Feng, Guofang

    2016-04-27

    Metabolic syndrome is closely associated with an increased risk for fatty liver disease morbidity and mortality. Recently, studies have reported that participants with fatty liver disease have higher serum alpha-fetoprotein levels than those without. We investigated the association between alpha-fetoprotein levels and the prevalence of metabolic syndrome in a Chinese asymptomatic population. A cross-sectional study was performed with 7,755 participants who underwent individual health examinations. Clinical and anthropometric parameters were collected and serum alpha-fetoprotein levels and other clinical and laboratory parameters were measured. Logistic regression analysis was used to examine associations between alpha-fetoprotein and metabolic syndrome. Participants with metabolic syndrome had significantly higher (p alpha-fetoprotein levels than those without, though all alpha-fetoprotein levels were within the reference interval. The association between the components of metabolic syndrome (central obesity, elevated blood pressure, elevated triglycerides, reduced high-density lipoprotein cholesterol, and elevated fasting plasma glucose) and alpha-fetoprotein levels was evaluated. Alpha-fetoprotein levels in the elevated triglycerides, reduced high-density lipoprotein cholesterol, and elevated fasting plasma glucose groups were significantly different (p=0.002, p alpha-fetoprotein in the normal triglycerides, high-density lipoprotein cholesterol, and fasting plasma glucose groups. Logistic regression analyses showed an association between alpha-fetoprotein levels and increased risk for metabolic syndrome, the presence of reduced high-density lipoprotein cholesterol, and elevated fasting plasma glucose, but not with obesity, elevated blood pressure, or triglycerides. These results suggest a significant association between alpha-fetoprotein and metabolic syndrome.

  10. Presence of enthesopathy in patients with primary Sjogren's syndrome: ultrasonographic study of a local cohort.

    Science.gov (United States)

    Sag, Sinem; Sag, Mustafa Serdar; Tekeoglu, Ibrahim; Kamanlı, Ayhan; Nas, Kemal

    2018-01-01

    Musculoskeletal findings in Sjögren's syndrome are arthralgia, arthritis, myalgia, myositis, fibromyalgia, and chronic fatigue. Enthesis zones are important in the formation of pain in the musculoskeletal system. Musculoskeletal ultrasound (US) may show subclinical enthesitis in the synovial joints and in the axial skeleton before joint swelling in inflammatory diseases characterized by arthritis. In this study, we aimed to determine the presence of enthesopathy using the Madrid sonographic enthesitis index (MASEI) in patients with primary Sjögren's syndrome (PSS). Consecutive patients with PSS and age-matched healthy controls were included in this study. All the patients met the 2002 American College of Rheumatology/European League against Rheumatism classification criteria for PSS. The demographic characteristics of the patients were recorded. Six enthesis sites were evaluated using gray-scale and Doppler US with a linear transducer, and they were scored using the MASEI. They were assessed by the EULAR Sjögren's syndrome disease activity index (ESSDAI). We evaluated 40 patients with PSS (average age 48.67 ± 11.23 years) and 30 healthy controls (average age 45.40 ± 8.24 years). Patients with PSS had significantly higher MASEI scores than the healthy controls. Plantar fascia, Achilles tendon, and distal patellar tendons were significantly thicker in the PSS group than in the healthy controls. The MASEI total score had a positive correlation with age. There was no correlation between MASEI total score and BMI and ESSDAI. In this study, it was shown that the MASEI scores assessed by US were significantly higher in patients with PSS than in healthy controls. Plantar fascia, Achilles tendon, and distal patellar tendon were significantly thicker in the PSS group than in the healthy controls. This result suggests that PSS may be one of the causes of musculoskeletal pain that can be seen in patients with PSS. Our study was the first study to use an enthesis

  11. Metabolic Syndrome Increases the Risk of Sudden Sensorineural Hearing Loss in Taiwan: A Case-Control Study.

    Science.gov (United States)

    Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wu, Ming-Tsang; Ho, Kuen-Yao

    2015-07-01

    Sudden sensorineural hearing loss has been reported to be associated with diabetes mellitus, hypertension, and hyperlipidemia in previous studies. The aim of this study was to examine whether metabolic syndrome increases the risk of sudden sensorineural hearing loss in Taiwan. A case-control study. Tertiary university hospital. We retrospectively investigated 181 cases of sudden sensorineural hearing loss and 181 controls from the Department of Otorhinolaryngology, Kaohsiung Medical University Hospital, in southern Taiwan from 2010 to 2012, comparing their clinical variables. We analyzed the relationship between metabolic syndrome and sudden sensorineural hearing loss. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III with Asian modifications. The demographic and clinical characteristics, audiometry results, and outcome were reviewed. Subjects with metabolic syndrome had a 3.54-fold increased risk (95% confidence interval [CI] = 2.00-6.43, P diabetes mellitus, hypertension, and hyperlipidemia. With increases in the number of metabolic syndrome components, the risk of sudden sensorineural hearing loss increased (P for trend Vertigo was associated with a poor outcome (P = .02; 95% CI = 1.13~5.13, adjusted odds ratio = 2.39). The hearing loss pattern may influence the outcome of sudden sensorineural hearing loss (P Vertigo and total hearing loss were indicators of a poor outcome in sudden sensorineural hearing loss. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  12. Fasting glucose, obesity, and metabolic syndrome as predictors of type 2 diabetes: the Cooper Center Longitudinal Study.

    Science.gov (United States)

    DeFina, Laura F; Vega, Gloria Lena; Leonard, David; Grundy, Scott M

    2012-12-01

    To determine risk for type 2 diabetes in subjects with fasting glucose levels in the ranges of normoglycemia, mild hyperglycemia, and intermediate hyperglycemia and to assess the effect of obesity and metabolic syndrome on this risk. Incidence of type 2 diabetes mellitus was evaluated in 28,209 relatively healthy subjects participating in the Cooper Center Longitudinal Study. They were included in the study if they had more than 1 fasting plasma glucose measurement, anthropometry, and other parameters of interest. Three subgroups were identified: normoglycemic (obesity, and metabolic syndrome status. Incident diabetes was assessed at the earliest clinic visit at which the individual exhibited a blood glucose level of more than 7.0 mmol/L or reported a diagnosis of diabetes. Thirty-one percent of men and 15.9% of women had mild hyperglycemia and 11.9% of men and 3.6% of women had intermediate hyperglycemia. Yearly conversion rates to diabetes were low in individuals with normoglycemia and mild hyperglycemia but were strikingly higher in those with intermediate hyperglycemia. In subjects with intermediate hyperglycemia, presence of obesity and/or metabolic syndrome doubled conversion rates to diabetes. This study showed a marked difference in outcomes in subjects with mild and intermediate hyperglycemia. Moreover, obesity and metabolic syndrome were associated with strikingly elevated risk for diabetes in subjects with intermediate hyperglycemia. Thus intermediate hyperglycemia plus obesity/metabolic syndrome seemingly justifies intensive clinical intervention for prevention of both diabetes and cardiovascular disease.

  13. Computerized training improves verbal working memory in patients with myalgic encephalomyelitis/chronic fatigue syndrome: A pilot study.

    Science.gov (United States)

    Maroti, Daniel; Westerberg, Annika Fryxell; Saury, Jean-Michel; Bileviciute-Ljungar, Indre

    2015-08-18

    Patients with myalgic encephalomyelitis/chronic fatigue syndrome experience cognitive difficulties. The aim of this study was to evaluate the effect of computerized training on working memory in this syndrome. Non-randomized (quasi-experimental) study with no-treatment control group and non-equivalent dependent variable design in a myalgic encephalomyelitis/chronic fatigue syndrome-cohort. Patients with myalgic encephalomyelitis/chronic fatigue syndrome who participated in a 6-month outpatient rehabilitation programme were included in the study. Eleven patients who showed signs of working memory deficit were recruited for additional memory training and 12 patients with no working memory deficit served as controls. Cognitive training with computerized working memory tasks of increasing difficulty was performed 30-45 min/day, 5 days/week over a 5-week period. Short-term and working memory tests (Digit Span - forward, backward, total) were used as primary outcome measures. Nine of the 11 patients were able to complete the training. Cognitive training increased working memory (p = 0.003) and general attention (p = 0.004) to the mean level. Short-term memory was also improved, but the difference was not statistically significant (p = 0.052) vs prior training. The control group did not show any significant improvement in primary outcome measures. Cognitive training may be a new treatment for patients with myalgic encephalomyelitis/chronic fatigue syndrome.

  14. An exploratory study on emotion recognition in patients with a clinically isolated syndrome and multiple sclerosis.

    Science.gov (United States)

    Jehna, Margit; Neuper, Christa; Petrovic, Katja; Wallner-Blazek, Mirja; Schmidt, Reinhold; Fuchs, Siegrid; Fazekas, Franz; Enzinger, Christian

    2010-07-01

    Multiple sclerosis (MS) is a chronic multifocal CNS disorder which can affect higher order cognitive processes. Whereas cognitive disturbances in MS are increasingly better characterised, emotional facial expression (EFE) has rarely been tested, despite its importance for adequate social behaviour. We tested 20 patients with a clinically isolated syndrome suggestive of MS (CIS) or MS and 23 healthy controls (HC) for the ability to differ between emotional facial stimuli, controlling for the influence of depressive mood (ADS-L). We screened for cognitive dysfunction using The Faces Symbol Test (FST). The patients demonstrated significant decreased reaction-times regarding emotion recognition tests compared to HC. However, the results also suggested worse cognitive abilities in the patients. Emotional and cognitive test results were correlated. This exploratory pilot study suggests that emotion recognition deficits might be prevalent in MS. However, future studies will be needed to overcome the limitations of this study. Copyright 2010 Elsevier B.V. All rights reserved.

  15. 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

  16. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

    Directory of Open Access Journals (Sweden)

    E.D.R.P. Velloso

    2013-01-01

    Full Text Available Myelodysplastic syndromes (MDS and juvenile myelomonocytic leukemia (JMML are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED. We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome. Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  17. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country.

    Science.gov (United States)

    Velloso, E D R P; Chauffaille, M L; Peliçario, L M; Tanizawa, R S S; Toledo, S R C; Gaiolla, R D; Lopes, L F

    2013-01-01

    Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  18. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    Science.gov (United States)

    Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E M H F; Del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C l; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J H M; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B B A; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A

    2013-12-01

    Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. When passion becomes a nightmare: the burnout syndrome in healthcare workers. A case study.

    Directory of Open Access Journals (Sweden)

    Lara Gitto

    2016-05-01

    Full Text Available The phenomenon of burnout is constantly increasing and the healthcare professionals are more exposed to burnout than other workers, given their close and continuous relationship with disadvantaged customers. An analysis of this phenomenon aimed at identifying the variables that are correlated with a higher probability to develop burnout may allow to recognize those workers who are likely to suffer from this syndrome, suggesting appropriate intervention strategies. This study has been carried out on a sample of 50 professional and pediatric nurses through the submission of a brief test aimed at measuring the risk of burnout. 26 per cent of the people in the sample of 50 nurses, working at different hospitals and public clinics in Messina, Italy, present a high risk of burnout; they would, therefore, benefit from the introduction of preventive measures aimed at contrasting this syndrome. Several variables are correlated positively and significantly with a high level of risk: age, marital status, the circumstance of having children, the years of activity and the type of employment are among these ones. Preventive measures should be implemented in the most critical cases: such measures have some costs, that are, however, lower than the pharmacological and psychological treatment of exhaustion. Hence, it should be advisable favoring direct strategies to identify and eliminate, as far as possible, the causes of burnout, rather than treating its consequences.

  20. Occupational Therapy Intervention in a child with Cri-du-Chat Syndrome: a case study

    Directory of Open Access Journals (Sweden)

    Gabriela Caseiro

    2013-04-01

    Full Text Available Cri-du-Chat syndrome is a chromosomal abnormality that can result in several damages including developmental delay and intellectual disability of the affected child. This case study describes the occupational therapy intervention in a child with Cri-du-chat syndrome that was followed from two to four years old, in weekly sessions, at a school hospital in the state of São Paulo. Data from medical records, family reports, and occupational therapy sessions were used for case description. The initial assessment showed that the child was hypotonic, stood up only with support, and explored objects by taking them to the mouth. Occupational Therapy assistance aimed to stimulate sensorimotor performance skills (perceptual, neuromuscleskeletal and motor processing and cognitive integration and components (attention spectrum, sequencing, and learning, through make-believe activities and participation in the activities of daily living (ADL. Moreover, it was also necessary to intervene directly in the school context and the child’s family, advising parents to avoid overprotection. Through the jointffort of the multidisciplinary team and the child’s family, it was possible to contribute to the improvement of bodily functions, allowing an increase in activities and participation, considering the child’s personal factors and environmental conditions, with consequent discharge from ambulatory attendance of occupational therapy.

  1. Argan Oil as an Effective Nutri-Therapeutic Agent in Metabolic Syndrome: A Preclinical Study

    Directory of Open Access Journals (Sweden)

    Adil El Midaoui

    2017-11-01

    Full Text Available The present study aims at examining the effects of argan oil on the three main cardiovascular risk factors associated with metabolic syndrome (hypertension, insulin resistance and obesity and on one of its main complications, neuropathic pain. Male Sprague-Dawley rats had free access to a drinking solution containing 10% d-glucose or tap water for 12 weeks. The effect of argan oil was compared to that of corn oil given daily by gavage during 12 weeks in glucose-fed rats. Glucose-fed rats showed increases in systolic blood pressure, epididymal fat, plasma levels of triglycerides, leptin, glucose and insulin, insulin resistance, tactile and cold allodynia in association with a rise in superoxide anion production and NADPH oxidase activity in the thoracic aorta, epididymal fat and gastrocnemius muscle. Glucose-fed rats also showed rises in B1 receptor protein expression in aorta and gastrocnemius muscle. Argan oil prevented or significantly reduced all those anomalies with an induction in plasma adiponectin levels. In contrast, the same treatment with corn oil had a positive impact only on triglycerides, leptin, adiponectin and insulin resistance. These data are the first to suggest that argan oil is an effective nutri-therapeutic agent to prevent the cardiovascular risk factors and complications associated with metabolic syndrome.

  2. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

    Directory of Open Access Journals (Sweden)

    Pedersen Erik M

    2011-04-01

    Full Text Available Abstract Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS. Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve.

  3. White syndrome on massive corals: A case study in Paiton power plant, East Java

    Science.gov (United States)

    Muzaki, Farid Kamal; Saptarini, Dian; Riznawati, Aida Efrini

    2017-06-01

    As a stenothermal organism, coral easily affected by high-temperature cooling water discharged by a power plant into surrounding waters; which may lead to a rapid spread and transmission of coral disease, including White Syndrome. This study aimed to measure the prevalence of WS on massive corals in Paiton Power Plant waters. Research was conductedduring May 2015 at three observation stations; west and east side of water discharge canal (DB and DT) and water intake canal (WI). Observed parameters including ambient environmental variables (sea surface and bottom temperature, salinity, dissolved oxygen/DO, pH, and visibility); the cover of life corals (percent and genera composition) and prevalence of coral disease at 5 m depth. One-way ANOVA (analysis of variance, p=0.05) was performed to test the difference of coral disease prevalence from different observation stations. As the results, Coral coverage percentage in WI (85.75%), DB (60.75%), and DT (40.8%). Prevalence of WS in DB was highest (40.49±2.12% in DB, 13.53±11.5% in DT and 6.44±3.6 %, respectively). It can be assumed that prevalence of White Syndrome in those locations may be correlated to temperature which highest average temperature occurred in DB stations.

  4. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

    Science.gov (United States)

    Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R; Bitner-Glindzicz, Maria

    2012-01-01

    Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, regardless of clinical type. No subject had definite mutations (nonsense, frameshift or consensus splice site mutations) in two different USH genes. Novel missense variants were classified UV1-4 (unclassified variant): UV4 is 'probably pathogenic', based on control frequency A being the most common USH1 mutation in the cohort). USH2A was responsible for 79.3% of USH2 families and GPR98 for only 6.6%. No mutations were found in USH1G, WHRN or SLC4A7. One or two pathogenic/likely pathogenic variants were identified in 86% of cases. No convincing cases of digenic inheritance were found. It is concluded that digenic inheritance does not make a significant contribution to Usher syndrome; the observation of multiple variants in different genes is likely to reflect polymorphic variation, rather than digenic effects.

  5. A comparative study of the effects of Vitex agnus castus upon premenstrual syndrome in a mother tincture preparation and in a 3X homoeopathic preparation

    OpenAIRE

    2014-01-01

    M.Tech. (Homeopathy) The purpose of this study was to compare the effectiveness of a mother tincture preparation of Vitex agnus-castus and a hornoeopathic 3x preparation of Vitex agnus-castus in the treatment of premenstrual syndrome. A sample of 15 subjects suffering from premenstrual syndrome was selected. The subjects were selected according to the diagnostic criteria of premenstrual syndrome and certain other criteria requtred for the study. The subjects were given questionnaires to co...

  6. Dietary fructose and risk of metabolic syndrome in adults: Tehran Lipid and Glucose study

    Directory of Open Access Journals (Sweden)

    Hosseinpanah Farhad

    2011-07-01

    Full Text Available Abstract Background Studies have shown that the excessive fructose intake may induce adverse metabolic effects. There is no direct evidence from epidemiological studies to clarify the association between usual amounts of fructose intake and the metabolic syndrome. Objective The aim this study was to determine the association of fructose intake and prevalence of metabolic syndrome (MetS and its components in Tehranian adults. Methods This cross-sectional population based study was conducted on 2537 subjects (45% men aged 19-70 y, participants of the Tehran Lipid and Glucose Study (2006-2008. Dietary data were collected using a validated 168 item semi-quantitative food frequency questionnaire. Dietary fructose intake was calculated by sum of natural fructose (NF in fruits and vegetables and added fructose (AF in commercial foods. MetS was defined according to the modified NCEP ATP III for Iranian adults. Results The mean ages of men and women were 40.5 ± 13.6 and 38.6 ± 12.8 years, respectively. Mean total dietary fructose intakes were 46.5 ± 24.5 (NF: 19.6 ± 10.7 and AF: 26.9 ± 13.9 and 37.3 ± 24.2 g/d (NF: 18.6 ± 10.5 and AF: 18.7 ± 13.6 in men and women, respectively. Compared with those in the lowest quartile of fructose intakes, men and women in the highest quartile, respectively, had 33% (95% CI, 1.15-1.47 and 20% (95% CI, 1.09-1.27 higher risk of the metabolic syndrome; 39% (CI, 1.16-1.63 and 20% (CI, 1.07-1.27 higher risk of abdominal obesity; 11% (CI, 1.02-1.17 and 9% (CI, 1.02-1.14 higher risk of hypertension; and 9% (CI, 1-1.15 and 9% (1.04-1.12 higher risk of impaired fasting glucose. Conclusion Higher consumption of dietary fructose may have adverse metabolic effects.

  7. Dietary fructose and risk of metabolic syndrome in adults: Tehran Lipid and Glucose study.

    Science.gov (United States)

    Hosseini-Esfahani, Firoozeh; Bahadoran, Zahra; Mirmiran, Parvin; Hosseinpour-Niazi, Somayeh; Hosseinpanah, Farhad; Azizi, Fereidoun

    2011-07-12

    Studies have shown that the excessive fructose intake may induce adverse metabolic effects. There is no direct evidence from epidemiological studies to clarify the association between usual amounts of fructose intake and the metabolic syndrome. The aim this study was to determine the association of fructose intake and prevalence of metabolic syndrome (MetS) and its components in Tehranian adults. This cross-sectional population based study was conducted on 2537 subjects (45% men) aged 19-70 y, participants of the Tehran Lipid and Glucose Study (2006-2008). Dietary data were collected using a validated 168 item semi-quantitative food frequency questionnaire. Dietary fructose intake was calculated by sum of natural fructose (NF) in fruits and vegetables and added fructose (AF) in commercial foods. MetS was defined according to the modified NCEP ATP III for Iranian adults. The mean ages of men and women were 40.5 ± 13.6 and 38.6 ± 12.8 years, respectively. Mean total dietary fructose intakes were 46.5 ± 24.5 (NF: 19.6 ± 10.7 and AF: 26.9 ± 13.9) and 37.3 ± 24.2 g/d (NF: 18.6 ± 10.5 and AF: 18.7 ± 13.6) in men and women, respectively. Compared with those in the lowest quartile of fructose intakes, men and women in the highest quartile, respectively, had 33% (95% CI, 1.15-1.47) and 20% (95% CI, 1.09-1.27) higher risk of the metabolic syndrome; 39% (CI, 1.16-1.63) and 20% (CI, 1.07-1.27) higher risk of abdominal obesity; 11% (CI, 1.02-1.17) and 9% (CI, 1.02-1.14) higher risk of hypertension; and 9% (CI, 1-1.15) and 9% (1.04-1.12) higher risk of impaired fasting glucose. Higher consumption of dietary fructose may have adverse metabolic effects.

  8. 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...

  9. Psychosocial outcome and psychiatric comorbidity in older adolescents with Tourette syndrome: controlled study.

    Science.gov (United States)

    Gorman, Daniel A; Thompson, Nancy; Plessen, Kerstin J; Robertson, Mary M; Leckman, James F; Peterson, Bradley S

    2010-07-01

    Children with Tourette syndrome generally experience improvement of tics by age 18 years, but psychosocial and comorbidity outcomes at this age are unclear. To compare psychosocial outcomes and lifetime comorbidity rates in older adolescents with Tourette syndrome and controls. We hypothesised a priori that individuals with Tourette syndrome would have lower Children's Global Assessment Scale (CGAS) scores. A total of 65 individuals with Tourette syndrome, identified in childhood, and 65 matched community controls without tic or obsessive-compulsive disorder (OCD) symptoms were assessed around 18 years of age regarding psychosocial functioning and lifetime psychiatric disorders. Compared with controls, individuals with Tourette syndrome had substantially lower CGAS scores (P = 10(-8)) and higher rates of attention-deficit hyperactivity disorder (ADHD), major depression, learning disorder and conduct disorder (Ptic severity. Clinically ascertained children with Tourette syndrome typically have impaired psychosocial functioning and high comorbidity rates in late adolescence.

  10. Low-carbohydrate-diet score and metabolic syndrome: An epidemiologic study among Iranian women.

    Science.gov (United States)

    Shirani, Fatemeh; Esmaillzadeh, Ahmad; Keshteli, Ammar Hassanzadeh; Adibi, Peyman; Azadbakht, Leila

    2015-09-01

    Epidemiologic studies linking carbohydrate consumption and risk for metabolic syndrome (MetS) are limited. The association between low-carbohydrate-diet score and MetS has not been investigated. The aim of this study was to investigate low-carbohydrate-diet score in relation to MetS among a group of Iranian women. This cross-sectional study was conducted with 442 Iranian female teachers >20 y of age. Usual dietary intakes were assessed using a validated, dish-based semiquantitative food frequency questionnaire. Metabolic syndrome was defined according to the American Heart Association/National Heart, Lung, and Blood Institute/International Diabetes Federation definition guidelines. The prevalence of MetS in the lowest and highest quintile of low-carbohydrate-diet score was 17.5% and 18.8%, respectively (P = 0.97). There was no statistically significant difference in the prevalence between extreme quartiles low-carbohydrate-diet score and MetS (odds ratio, 0.93; 95% confidence interval, 0.38-2.28). After controlling for age, energy intake, and other potential confounders, low-carbohydrate-diet score was not significantly associated with MetS. A significant association was observed between this score and abnormal fasting plasma glucose. We failed to find a significant relationship between this score and other components of MetS. Diets with lower amounts of carbohydrate and higher contents of fat and protein were not significantly associated with the risk for MetS in a cross-sectional study with a group of Iranian women. More longitudinal studies are needed to confirm these results. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Sasang constitutional types for the risk prediction of metabolic syndrome: a 14-year longitudinal prospective cohort study.

    Science.gov (United States)

    Lee, Sunghee; Lee, Seung Ku; Kim, Jong Yeol; Cho, Namhan; Shin, Chol

    2017-09-02

    To examine whether the use of Sasang constitutional (SC) types, such as Tae-yang (TY), Tae-eum (TE), So-yang (SY), and So-eum (SE) types, increases the accuracy of risk prediction for metabolic syndrome. From 2001 to 2014, 3529 individuals aged 40 to 69 years participated in a longitudinal prospective cohort. The Cox proportional hazard model was utilized to predict the risk of developing metabolic syndrome. During the 14 year follow-up, 1591 incident events of metabolic syndrome were observed. Individuals with TE type had higher body mass indexes and waist circumferences than individuals with SY and SE types. The risk of developing metabolic syndrome was the highest among individuals with the TE type, followed by the SY type and the SE type. When the prediction risk models for incident metabolic syndrome were compared, the area under the curve for the model using SC types was significantly increased to 0.8173. Significant predictors for incident metabolic syndrome were different according to the SC types. For individuals with the TE type, the significant predictors were age, sex, body mass index (BMI), education, smoking, drinking, fasting glucose level, high-density lipoprotein (HDL) cholesterol level, systolic and diastolic blood pressure, and triglyceride level. For Individuals with the SE type, the predictors were sex, smoking, fasting glucose, HDL cholesterol level, systolic and diastolic blood pressure, and triglyceride level, while the predictors in individuals with the SY type were age, sex, BMI, smoking, drinking, total cholesterol level, fasting glucose level, HDL cholesterol level, systolic and diastolic blood pressure, and triglyceride level. In this prospective cohort study among 3529 individuals, we observed that utilizing the SC types significantly increased the accuracy of the risk prediction for the development of metabolic syndrome.

  12. Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study.

    Science.gov (United States)

    Gaily, Eija; Lommi, Markus; Lapatto, Risto; Lehesjoki, Anna-Elina

    2016-10-01

    Population-based studies on infantile epilepsy syndromes are scarce. Our aim was to provide syndrome-specific data on the incidence and outcome of epilepsy in a population-based cohort of infants with epilepsy onset in the first year. Included were all infants born in 1997 through 2006 whose epileptic seizures started before 12 months of age and who were residents of the Helsinki University Hospital district at the time of seizure onset. Patients were ascertained from hospital statistics, and all patient charts were reviewed. A reevaluation of the epilepsy syndromes, age at onset, etiology, and outcome at 24 months of age was based on data abstracted from the patient files. Inclusion criteria were fulfilled by 158 infants, of whom 92% were followed until age 24 months or death. The incidence of epilepsy in the first year was 124 of 100,000. An epilepsy syndrome recognized by the revised organization of epilepsies by ILAE was identified in 58% of the patients. The most common syndromes were West syndrome (41/100,000) and benign familial or nonfamilial infantile epilepsy (22/100,000). Etiology was structural-metabolic in 35%, genetic in 17%, and unknown in 48%. Early age at onset was associated with structural-metabolic etiology. Seven infants (4.4%) died before age 2 years. One infant with an SCN2A mutation died of sudden unexplained death in epilepsy (SUDEP). At 24 months, 58% of all children included in the cohort were seizure-free, and 46% had both seizure freedom and age-appropriate cognitive development. Age at onset was not associated with outcome when etiology was controlled for. Benign familial and nonfamilial infantile epilepsy appears to be more common than previously suggested, second only to West syndrome. Early age at onset is not an independent risk factor for poor outcome. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  13. Handwriting Tics in Tourette’s Syndrome: A Single Center Study

    OpenAIRE

    Zanaboni Dina, Carlotta; Bona, Alberto R.; Zekaj, Edvin; Servello, Domenico; Porta, Mauro

    2016-01-01

    Tourette’s syndrome (TS) is a neurodevelopmental disorder typically defined by multiple motor tics and at least one sound tic (1), beginning in childhood or in adolescence. More recently, Tourette’s syndrome has been acknowledged as a broad spectrum syndrome (2), including different comorbidities and coexisting symptoms. When beginning in early childhood TS mainly presents with attention deficit and hyperactivity disorder (ADHD) and tics, when beginning in adolescence instead tics and obsessi...

  14. Is isoproterenol really required during electrophysiological study in patients with Wolff-Parkinson-White syndrome?

    Science.gov (United States)

    Pauriah, Maheshwar; Cismaru, Gabriel; Sellal, Jean-Marc; De Chillou, Christian; Brembilla-Perrot, Béatrice

    2013-01-01

    We have studied the results of electrophysiological study (EPS) in patients with Wolff-Parkinson-White syndrome (WPW) and spontaneous adverse clinical presentation and determined whether isoproterenol added incremental value. EPS was performed in 63 patients with WPW and adverse clinical presentation at baseline. EPS was repeated after infusion of isoproterenol in 37 patients, including 25 without criteria for a malignant form at baseline. Atrioventricular orthodromic tachycardia was induced 44%, antidromic tachycardia in 11%, atrial fibrillation (AF) in 68% at baseline. At baseline EPS, criteria for a malignant form (AF induction and shortest CL <250 ms) were noted in 60%; tachycardia was not inducible in 16%. All the patients met the criteria for a malignant form after isoproterenol. EPS at baseline missed 16% of patients at risk of life-threatening arrhythmias who had no inducible tachyarrhythmia and 40% without classical criteria for malignant form. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. Albumin and Furosemide Combination for Management of Edema in Nephrotic Syndrome: A Review of Clinical Studies

    Directory of Open Access Journals (Sweden)

    Margaret Duffy

    2015-10-01

    Full Text Available The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics. However, edema does not improve in some patients despite adequate sodium restriction and maximal dose of diuretics. In such patients, combination of albumin and a loop diuretic may improve edema by diuresis and natriuresis. The response to this combination of albumin and a diuretic has not been observed in all studies. The purpose of this review is to discuss the physiology of diuresis and natriuresis of this combination therapy, and provide a brief summary of various studies that have used albumin and a loop diuretic to improve diuretic-resistant edema. Also, the review suggests various reasons for not observing similar results by various investigators.

  16. A Single Center Study of the Clinical Features and Comorbidities of Patients with Restless Legs Syndrome

    Directory of Open Access Journals (Sweden)

    Eun-Kyoung Han

    2011-12-01

    Full Text Available This study investigated the clinical features and comorbidities of patients with restless legs syndrome (RLS. A total of 128 RLS patients (68 women, 60 men; mean age = 58.03 ± 12.58 years were assessed. The severity of RLS was evaluated by the International RLS Study Group (IRLSSG Severity Scale. Among the subjects with RLS, depressive symptoms (65.5% and poor sleep quality (95.4% were frequently reported, and 88.3% of the patients showed moderate-to-severe symptom severity on the IRLSSG Severity Scale. The most common complaint was insomnia (70.3%, and 16 patients (12.5% reported leg discomfort as their main symptom. Obstructive sleep apnea was observed in 66% of RLS patient. Iron deficiency was not prevalent in RLS patients. The severity of RLS was not significantly correlated with depression, sleep quality or sleepiness. We conclude that when assessing insomnia patients, RLS symptoms should be evaluated.

  17. Treatment of Severe Edema in Children with Nephrotic Syndrome with Diuretics Alone — A Prospective Study

    Science.gov (United States)

    Kapur, Gaurav; Valentini, Rudolph P.; Imam, Abubakr A.; Mattoo, Tej K.

    2009-01-01

    Background and objective: Severe edema in children with nephrotic syndrome (NS) may be associated with volume contraction (VC) or volume expansion (VE). Usually, severe edema in children is treated with intravenous (IV) albumin and diuretics, which is appropriate for VC patients. However, in VE patients, this can precipitate fluid overload. The objective of this study was to evaluate treatment of severe edema in NS with diuretics alone. Design, setting, participants, & measurements: Thirty NS patients with severe edema were enrolled in this prospective study in two phases. VC was diagnosed based on fractional excretion of sodium (FeNa) diuretics alone and 9 VC patients received albumin and furosemide. There was no difference in hospital stay and weight loss in VC and VE groups after treatment. Conclusions: FeNa is useful in distinguishing VC versus VE in NS children with severe edema. The use of diuretics alone in VE patients is safe and effective. PMID:19406963

  18. Comparative study of patellar subluxation syndrome and normal group using axial radiography and CT

    Energy Technology Data Exchange (ETDEWEB)

    Kitagawa, Mamoru; Tomonaga, Kunio; Egawa, Tadashi; Nakamura, Yasushi; Gotoh, Shoji; Mihara, Shigeru (Nagasaki Municipal Hospital (Japan))

    1989-10-01

    A comparative study was conducted on the 20 knees of 10 females with normal knee joints (age, 22-35 years) and on 7 knees of 7 patients with subluxation syndrome (age, 15-24 years), using axial radiography and CT. In axial radiography where the angle of knee flexion was 30 deg or 60 deg, no significant difference was recognized between the two groups with respect to tilting angle, patellofemoral angle, congruence angle and lateral shift. However, a significant difference was found using CT. Thus, CT was considered useful for diagnosis. Because of these results, all 7 cases underwent surgery for detachment of the lateral side and tightening of the medial side. Three cases underwent shifting of the tibial tuberosity to the anteromedial side, resulting in a favourable outcome. Here, we report the study. (author).

  19. Comparative study of patellar subluxation syndrome and normal group using axial radiography and CT

    International Nuclear Information System (INIS)

    Kitagawa, Mamoru; Tomonaga, Kunio; Egawa, Tadashi; Nakamura, Yasushi; Gotoh, Shoji; Mihara, Shigeru

    1989-01-01

    A comparative study was conducted on the 20 knees of 10 females with normal knee joints (age, 22-35 years) and on 7 knees of 7 patients with subluxation syndrome (age, 15-24 years), using axial radiography and CT. In axial radiography where the angle of knee flexion was 30 deg or 60 deg, no significant difference was recognized between the two groups with respect to tilting angle, patellofemoral angle, congruence angle and lateral shift. However, a significant difference was found using CT. Thus, CT was considered useful for diagnosis. Because of these results, all 7 cases underwent surgery for detachment of the lateral side and tightening of the medial side. Three cases underwent shifting of the tibial tuberosity to the anteromedial side, resulting in a favourable outcome. Here, we report the study. (author)

  20. Course of Tourette Syndrome and Comorbidities in a Large Prospective Clinical Study

    DEFF Research Database (Denmark)

    Groth, Camilla; Mol Debes, Nanette; Rask, Charlotte Ulrikka

    2017-01-01

    Objective: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by tics and frequent comorbidities. Although tics often improve during adolescence, recent studies suggest that comorbid obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder...... (ADHD) tend to persist. This large prospective follow-up study describes the clinical course of tics and comorbidities during adolescence and the prevalence of coexisting psychopathologies. Method: The clinical cohort was recruited at the Danish National Tourette Clinic, and data were collected...... at baseline (n = 314, age range 5–19 years) and at follow-up 6 years later (n = 227) to establish the persistence and severity of tics and comorbidities. During follow-up, the Development and Well-Being Assessment (DAWBA) was used to diagnose coexisting psychopathologies. Repeated measures of severity scores...

  1. [Pilot study of psychiatric and social aspects of children and adolescents with fragile X syndrome].

    Science.gov (United States)

    Häßler, Frank; Gaese, Franziska; Colla, Michael; Huss, Michael; Kretschmar, Christoph; Brinkman, Marc; Peters, Helmut; Elstner, Samuel; Weirich, Steffen; Pittrow, David

    2017-03-01

    The study describes the burden of psychosocial risks of mental illnesses and the ways in which children and adolescents with fragile X syndrome (FRX) can be treated. Data from a sample of 34 patients with FRX younger than 18 years stemming from a prospective multicenter (n = 11) registry study (EXPLAIN) were analyzed with regard to psychosocial burden and Treatment. One third of all participants reported having relatives who suffer from FRX. The majority of participants were suffering themselves from one kind or another mental or neurological problems. Younger participants (therapies and occupational therapies (more than once a month). In our sample, 96.3 % of the younger patients and more than 57.1 % of the older patients were still living with their parents. Patients with FRX often suffer from additional neurological and mental disorders. For that reason, they should be diagnosed and treated early on.

  2. Wernicke-Korsakoff Syndrome as a Consequence of Delusional Food Refusal: A Case Study.

    Science.gov (United States)

    Hargrave, David D; Schroeder, Ryan W; Heinrichs, Robin J; Baade, Lyle E

    2015-12-01

    Wernicke-Korsakoff syndrome is caused by thiamine (vitamin B1) deficiency, typically resulting from malnutrition secondary to chronic alcohol abuse. Less often, other conditions can lead to malnutrition and Wernicke-Korsakoff syndrome. We describe a 35-year-old man who developed Wernicke-Korsakoff syndrome with a typical neurologic and neuropsychological presentation after somatic delusions led him to refuse to eat. Cases like his serve to heighten awareness of the interplay between psychiatric and neurologic conditions, their sometimes atypical pathogenesis, and the value to primary care providers of consulting with psychiatrists, neurologists, and neuropsychologists when managing patients with possible Wernicke-Korsakoff syndrome.

  3. Sonographic diagnosis of carpal tunnel syndrome: a study in 200 hospital workers

    Directory of Open Access Journals (Sweden)

    Adham do Amaral e Castro

    2015-10-01

    Full Text Available AbstractObjective:To describe the prevalence of carpal tunnel syndrome in a sample of 200 healthy hospital workers, establishing the respective epidemiological associations.Materials and Methods:Two hundred individuals were submitted to wrist ultrasonography to measure the median nerve area. They were questioned and examined for epidemiological data, body mass index, carpal tunnel syndrome signs and symptoms, and submitted to the Boston carpal tunnel questionnaire (BCTQ to evaluate the carpal tunnel syndrome severity. A median nerve area ≥ 9 mm2 was considered to be diagnostic of carpal tunnel syndrome.Results:Carpal tunnel syndrome was diagnosed by ultrasonography in 34% of the sample. It was observed the association of carpal tunnel syndrome with age (p < 0.0001, paresthesia (p < 0.0001, Tinel's test (p < 0.0001, Phalen's test (p< 0.0001, BCTQ score (p < 0.0001, and years of formal education (p < 0.0001. Years of formal education was the only variable identified as an independent risk factor for carpal tunnel syndrome (95% CI = 1.03 to 1.24.Conclusion:The prevalence of carpal tunnel syndrome in a population of hospital workers was of 34%. The number of years of formal education was the only independent risk factor for carpal tunnel syndrome.

  4. Dextrose-induced subsynovial connective tissue fibrosis in the rabbit carpal tunnel: A potential model to study carpal tunnel syndrome?

    NARCIS (Netherlands)

    Oh, S.; Ettema, A.M.; Zhao, C.; Zobitz, M.E.; Wold, L.E.; An, K.N.; Amadio, P.C.

    2008-01-01

    In this pilot study, hypertonic dextrose solution was used to induce fibrosis of the subsynovial connective tissue (SSCT) and create an animal model of potential use in the study of carpal tunnel syndrome (CTS). The SSCT of the carpal tunnel in 15 New Zealand white rabbits were injected with 0.05 ml