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Sample records for syndrome age-matched double-cohort

  1. Comparison of Conditioning Impairments in Children with Down Syndrome, Autistic Spectrum Disorders and Mental Age-Matched Controls

    Science.gov (United States)

    Reed, P.; Staytom, L.; Stott, S.; Truzoli, R.

    2011-01-01

    Background: This study investigated the relative ease of learning across four tasks suggested by an adaptation of Thomas's hierarchy of learning in children with Down syndrome, autism spectrum disorders and mental age-matched controls. Methods: Learning trials were carried out to investigate observational learning, instrumental learning, reversal…

  2. Responses of sympathetic nervous system to cold exposure in vibration syndrome subjects and age-matched healthy controls.

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    Nakamoto, M

    1990-01-01

    Plasma norepinephrine and epinephrine in vibration syndrome subjects and age-matched healthy controls were measured for the purpose of estimating the responsibility of the sympathetic nervous system to cold exposure. In preliminary experiment, it was confirmed that cold air exposure of the whole body was more suitable than one-hand immersion in cold water. In the main experiment, 195 subjects were examined. Sixty-five subjects had vibration syndrome with vibration-induced white finger (VWF + group) and 65 subjects had vibration syndrome without VWF (VWF- group) and 65 controls had no symptoms (control group). In the three groups, plasma norepinephrine levels increased during cold air exposure of whole body at 7 degrees +/- 1.5 degrees C. Blood pressure increased and skin temperature decreased during cold exposure. Percent increase of norepinephrine in the VWF+ group was the highest while that in VWF- group followed and that in the control group was the lowest. This whole-body response of the sympathetic nervous system to cold conditions reflected the VWF which are characteristic symptoms of vibration syndrome. Excluding the effects of shivering and a cold feeling under cold conditions, it was confirmed that the sympathetic nervous system in vibration syndrome is activated more than in the controls. These results suggest that vibration exposure to hand and arm affects the sympathetic nervous system.

  3. Carotid intima-media thickness in mainly non-obese women with polycystic ovary syndrome and age-matched controls.

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    Kim, Jin Ju; Choi, Young Min; Kang, Jin Hwa; Hwang, Kyu Ri; Chae, Soo Jin; Kim, Sun Mie; Ku, Seung Yup; Kim, Seok Hyun; Kim, Jung Gu; Moon, Shin Yong

    2013-07-01

    Metabolic disturbances are well-recognized clinical features of polycystic ovary syndrome (PCOS). Carotid intima-media thickness (CIMT) has been widely used as a surrogate marker of atherosclerosis and cardiovascular disease (CVD). CIMT in women with PCOS has been investigated in many studies, but there has been only one report in the Korean population. The aim of the present study was to compare the presence of subclinical atherosclerosis in young untreated Korean women with PCOS and age-matched controls, specifically by measuring their CIMT. CIMT was measured by one radiologist in 56 PCOS patients and 56 controls. To compare the CIMT according to PCOS phenotypes, women with PCOS were divided into two subgroups according to the presence of hyperandrogenism. Although PCOS patients were more obese and had higher blood pressure and insulin resistance index than the age-matched controls, the CIMT was not different between the two groups (0.49 ± 0.09 mm in PCOS patients vs. 0.50 ± 0.11 mm in controls, respectively, p = 0.562). When the CIMT in the control group was compared with hyperandrogenic and non-hyperandrogenic PCOS groups, also no significant differences were found. Despite the significant differences in some vascular risk factors between women with PCOS and controls, PCOS patients did not have a significantly higher CIMT (even in the hyperandrogenic subgroups). Although our study did not show the increased risk of subclinical atherosclerosis in PCOS patients, the role of CIMT continues to be investigated considering the importance of screening and monitoring CVD risk factors in women with PCOS.

  4. Evaluation of visual stress symptoms in age-matched dyslexic, Meares-Irlen syndrome and normal adults.

    Science.gov (United States)

    Alanazi, Mana A; Alanazi, Saud A; Osuagwu, Uchechukwu L

    2016-01-01

    To examine the prevalence of dyslexia and Meares-Irlen syndrome (MIS) among female students and determine their level of visual stress in comparison with normal subjects. A random sample of 450 female medical students of King Saud University Riyadh (age range, 18-30y) responded to a wide range of questions designed to accomplish the aims of this study. The detailed questionnaire consisted of 54 questions with 12 questions enquiring on ocular history and demography of participants while 42 questions were on visual symptoms. Items were categorized into critical and non-critical questions (CQ and NCQ) and were rated on four point Likert scale. Based on the responses obtained, the subjects were grouped into normal (control), dyslexic with or without MIS (Group 1) and subjects with MIS only (Group 2). Responses were analysed as averages and mean scores were calculated and compared between groups using one way analysis of variance to evaluate total visual stress score (TVSS=NCQ+CQ), critical and non-critical visual stress scores. The relationship between categorical variables such as age, handedness and condition were assessed with Chi-square test. The completion rate was 97.6% and majority of the respondents (92%) were normal readers, 2% dyslexic and 6% had MIS. They were age-matched. More than half of the participants had visited an eye care practitioner in the last 2y. About 13% were recommended eye exercises and one participant experienced pattern glare. Hand preference was not associated with any condition but Group 1 subjects (3/9, 33%) were significantly more likely to be diagnosed of lazy eye than Group 2 (2/27, 7%) and control (27/414, 7%) subjects. The mean±SD of TVSS responses were 63±14 and it was 44±9 for CQ and 19±5 for NCQ. Responses from all three variables were normally distributed but the CQ responses were on the average more positive (82%) in Group 2 and less positive (46%) in Group 1 than control. With NCQ, the responses were equally less positive

  5. Age-Related Normogram for Ovarian Antral Follicle Count in Women with Polycystic Ovary Syndrome and Comparison with Age Matched Controls Using Magnetic Resonance Imaging.

    Science.gov (United States)

    Aiyappan, Senthil Kumar; Karpagam, Bulabai; Vadanika, V; Chidambaram, Prem Kumar; Vinayagam, S; Saravanan, K C

    2016-01-01

    Antral Follicle count (AFC) is a reliable marker for ovarian reserve. Previous studies have used transvaginal ultrasound for estimation of AFC, however we used magnetic resonance imaging (MRI) for estimation of AFC and for creating an age-related normogram in patients with polycystic ovary syndrome (PCOS) and compared it with normal patients. The aim of this study is to create an age related normogram for AFC in women with PCOS and to compare that with women without polycystic ovarian syndrome using MRI. A total of 1500 women were examined, out of which 400 fitted the criteria for PCOS. They all underwent MRI study and similar age matched women without PCOS also underwent MRI examination. Normogram for AFC were obtained using LMS software and a percentile chart was obtained. Normogram for AFC in PCOS women showed decline in number of AFC as the age progresses and the decline was linear. The normogram for AFC was compared with equal number of patients without PCOS and they also showed decline in AFC as the age progresses, however the decline was exponential and faster. Age related normogram for AFC is widely used and considered as best clinical predictor for ovarian response in assisted reproductive technology. Knowledge of ovarian reserve is important in PCOS and non-PCOS females as PCOS patients are at risk for ovarian hyperstimulation syndrome during gonadotrophin theraphy. MRI is an equally effective and in some times better alternative to transvaginal ultrasound as it has got its own advantages.

  6. The fears, phobias and anxieties of children with autism spectrum disorders and Down syndrome: comparisons with developmentally and chronologically age matched children.

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    Evans, David W; Canavera, Kristin; Kleinpeter, F Lee; Maccubbin, Elise; Taga, Ken

    2005-01-01

    This study compared the fears and behavior problems of 25 children with an autism spectrum disorder (ASD), 43 children with Down syndrome (DS), 45 mental age (MA) matched children, and 37 chronologically age (CA) matched children. Children's fears, phobias, anxieties and behavioral problems were assessed using parent reports. Significant differences emerged across the diagnostic groups on a variety of fears. Children with ASD were reported to have more situation phobias and medical fears, but fewer fears of harm/injury compared to all other groups. The groups also differed in terms of the pattern of correlations between fears, phobias, anxieties and behavior problems. For children with ASD, fears, phobias and anxieties were closely related to problem behaviors, whereas fears, phobias, and anxieties were less related to behavioral symptoms for the other groups of subjects. Such findings suggest that children with ASD exhibit a distinct profile of fear and anxiety compared to other mental age and chronologically age-matched children, and these fears are related to the symptoms associated with ASD.

  7. The Fears, Phobias and Anxieties of Children with Autism Spectrum Disorders and Down Syndrome: Comparisons with Developmentally and Chronologically Age Matched Children

    Science.gov (United States)

    Evans, David W.; Canavera, Kristin; Kleinpeter, F. Lee; Maccubbin, Elise; Taga, Ken

    2005-01-01

    This study compared the fears and behavior problems of 25 children with an autism spectrum disorder (ASD), 43 children with Down syndrome (DS), 45 mental age (MA) matched children, and 37 chronologically age (CA) matched children. Children's fears, phobias, anxieties and behavioral problems were assessed using parent reports. Significant…

  8. Reproductive hormone levels and anthropometry in postmenopausal women with polycystic ovary syndrome (PCOS): a 21-year follow-up study of women diagnosed with PCOS around 50 years ago and their age-matched controls.

    Science.gov (United States)

    Schmidt, Johanna; Brännström, Mats; Landin-Wilhelmsen, Kerstin; Dahlgren, Eva

    2011-07-01

    The hormonal and anthropometric profile of premenopausal women with polycystic ovary syndrome (PCOS) is well described, but there is a lack of data concerning changes in these variables into the postmenopausal period. Our objective was to examine whether PCOS women differ from normal women regarding levels of reproductive hormones, anthropometry, and presence of hirsutism/climacteric symptoms also after menopause. In this prospective study, women with PCOS (61-79 yr) and age-matched controls, examined in 1987, were reinvestigated at a university hospital. Twenty-five PCOS patients (Rotterdam criteria) and 68 controls (randomly allocated from the Gothenburg WHO MONICA study) participated. Reexamination and hormonal measurements were done 21 yr after previous visit. FSH, LH, TSH, thyroid peroxidase antibodies, prolactin, estrone, estradiol, SHBG, androstenedione, total testosterone, dehydroepiandrosterone sulfate, free androgen index, and anthropometry were determined. Presence of climacteric symptoms, hirsutism, and menopausal age were recorded. PCOS women had higher free androgen index (P = 0.001) but lower FSH (P PCOS and controls. Women with PCOS reported hirsutism more frequently (P symptoms (P PCOS women differ from controls with regard to levels of certain reproductive hormones also after menopause, but the established premenopausal increase in waist to hip ratio in PCOS patients disappeared after menopause, mainly due to weight gain among controls. A novel finding was the lower prevalence of hypothyroidism in PCOS women.

  9. Young for young! Mandatory age-matched exchange of paediatric kidneys.

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    Pape, Lars; Ehrich, Jochen H H; Offner, Gisela

    2007-04-01

    Some allocation systems include a mandatory donation of paediatric kidneys to children, others do not. Both approaches have medical and organisational advantages and disadvantages for adults and children. This article discusses why "young for young" is the best allocation system for children. Primary age-matched kidney allocation to children is one important factor leading to: (1) higher long-term glomerular filtration rates (GFRs) and graft survival and, thereby, to lesser need for dialysis; (2) better psychosocial rehabilitation, growth and development of children and, last but not least, (3) likely increase of the donor pool. As a consequence, health care costs will be reduced for children with end-stage renal failure. The chance of adults receiving an adequate kidney would be only minimally reduced by this policy. Therefore, we recommend an age-matched allocation programme giving children with end- stage kidney diseases a better prognosis.

  10. Assessment of pain sensitivity in patients with deep bite and sex- and age-matched controls

    DEFF Research Database (Denmark)

    Sonnesen, Ane Liselotte; Svensson, Peter

    2011-01-01

    AIMS: To compare pain sensitivity between deep bite patients and a sex- and age-matched control group with normal occlusion. METHODS: Pain sensitivity was assessed by injections of the excitatory amino acid glutamate into the masseter and brachioradialis muscles. Intensity of glutamate-evoked pai...... of gender-related differences in somatosensory sensitivity and for the first time indicate that subjects with deep bite may be more sensitive to glutamate-evoked pain and thermal stimuli.......AIMS: To compare pain sensitivity between deep bite patients and a sex- and age-matched control group with normal occlusion. METHODS: Pain sensitivity was assessed by injections of the excitatory amino acid glutamate into the masseter and brachioradialis muscles. Intensity of glutamate-evoked pain...

  11. Comparison of posture and balance in cancer survivors and age-matched controls.

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    Schmitt, Abigail C; Repka, Chris P; Heise, Gary D; Challis, John H; Smith, Jeremy D

    2017-12-01

    The combination of peripheral neuropathy and other treatment-associated side effects is likely related to an increased incidence of falls in cancer survivors. The purpose of this study was to quantify differences in postural stability between healthy age-matched controls and cancer survivors. Quiet standing under four conditions (eyes open/closed, rigid/compliant surface) was assessed in 34 cancer survivors (2 males, 32 females; age: 54(13) yrs., height: 1.62(0.07) m; mass: 78.5(19.5) kg) and 34 age-matched controls (5 males, 29 females; age: 54(15) yrs.; height: 1.62(0.08) m; mass: 72.8(21.1) kg). Center of pressure data were collected for 30s and the trajectories were analyzed (100Hz). Three-factor (group*surface*vision) mixed model MANOVAs with repeated measures were used to determine the effect of vision and surface on postural steadiness between groups. Cancer survivors exhibited larger mediolateral root-mean square distance and velocity of the center of pressure, as well as increased 95% confidence ellipse area (Ppostural steadiness when compared with age-matched controls. For cancer survivors undergoing rehabilitation focused on existing balance deficits, a small subset of the center of pressure measures presented here can be used to track progress throughout the intervention and potentially mitigate fall risk. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Cardiovascular function is better in veteran football players than age-matched untrained elderly healthy men

    DEFF Research Database (Denmark)

    Schmidt, Jakob Friis; Andersen, Thomas Rostgaard; Andersen, Lars Juel

    2015-01-01

    The aim of the study was to determine whether lifelong football training may improve cardiovascular function, physical fitness, and body composition. Our subjects were 17 male veteran football players (VPG; 68.1 ± 2.1 years) and 26 healthy age-matched untrained men who served as a control group (CG......, RHI was 21% higher (P training is associated with better LV systolic function, physical fitness......, microvascular function, and a healthier body composition. Overall, VPG have better cardiovascular function compared with CG, which may reduce their cardiovascular morbidity and mortality....

  13. Electrical stimulation directs engineered cardiac tissue to an age-matched native phenotype

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    Richard A Lasher

    2012-12-01

    Full Text Available Quantifying structural features of native myocardium in engineered tissue is essential for creating functional tissue that can serve as a surrogate for in vitro testing or the eventual replacement of diseased or injured myocardium. We applied three-dimensional confocal imaging and image analysis to quantitatively describe the features of native and engineered cardiac tissue. Quantitative analysis methods were developed and applied to test the hypothesis that environmental cues direct engineered tissue toward a phenotype resembling that of age-matched native myocardium. The analytical approach was applied to engineered cardiac tissue with and without the application of electrical stimulation as well as to age-matched and adult native tissue. Individual myocytes were segmented from confocal image stacks and assigned a coordinate system from which measures of cell geometry and connexin-43 spatial distribution were calculated. The data were collected from 9 nonstimulated and 12 electrically stimulated engineered tissue constructs and 5 postnatal day 12 and 7 adult hearts. The myocyte volume fraction was nearly double in stimulated engineered tissue compared to nonstimulated engineered tissue (0.34 ± 0.14 vs 0.18 ± 0.06 but less than half of the native postnatal day 12 (0.90 ± 0.06 and adult (0.91 ± 0.04 myocardium. The myocytes under electrical stimulation were more elongated compared to nonstimulated myocytes and exhibited similar lengths, widths, and heights as in age-matched myocardium. Furthermore, the percentage of connexin-43-positive membrane staining was similar in the electrically stimulated, postnatal day 12, and adult myocytes, whereas it was significantly lower in the nonstimulated myocytes. Connexin-43 was found to be primarily located at cell ends for adult myocytes and irregularly but densely clustered over the membranes of nonstimulated, stimulated, and postnatal day 12 myocytes. These findings support our hypothesis and reveal

  14. Postural adjustments in young ballet dancers compared to age matched controls.

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    Iunes, Denise H; Elias, Iara F; Carvalho, Leonardo C; Dionísio, Valdeci C

    2016-01-01

    The purpose of the study was to use photogrammetry to evaluate the posture of ballet practitioners compared to an age-matched control group. One hundred and eleven 7- to 24-year-old female volunteers were evaluated and were divided into two groups: the ballet practising group (n = 52) and the control group (n = 59), divided into three subgroups according to age and years of ballet experience. Dancers with 1-3 years experience compared to controls of the same age shows alterations in External Rotation Angle (P ballet experience, the Navicular Angle Left is smaller. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. The Comparison of Sagittal Spinopelvic Parameters between Young Adult Patients with L5 Spondylolysis and Age-Matched Control Group

    OpenAIRE

    Oh, Young Min; Choi, Ha Young; Eun, Jong Pil

    2013-01-01

    Objective To compare spinopelvic parameters in young adult patients with spondylolysis to those in age-matched patients without spondylolysis and investigate the clinical impact of sagittal spinopelvic parameters in patients with L5 spondylolysis. Methods From 2009 to 2012, a total of 198 young adult male patients with spondylolysis were identified. Eighty age-matched patients without spondylolysis were also selected. Standing lateral films that included both hip joints were obtained for each...

  16. Medial versus anterior open reduction for developmental hip dislocation in age-matched patients.

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    Hoellwarth, Jason S; Kim, Young-Jo; Millis, Michael B; Kasser, James R; Zurakowski, David; Matheney, Travis H

    2015-01-01

    The difference between medial (MAOR) and anterior (AAOR) approaches for open reduction of developmental hip dysplasia in terms of risk for avascular necrosis (AVN) and need for further corrective surgery (FCS, femoral and/or acetabular osteotomy) is unclear. This study compared age-matched cohorts undergoing either MAOR or AAOR in terms of these 2 primary outcomes. Prognostic impact of presence of ossific nucleus at time of open reduction was also investigated. Institutional review board approval was obtained. Nineteen hips (14 patients) managed by MAOR were matched with 19 hips (18 patients) managed by AAOR based on age at operation (mean 6.0; range, 1.4 to 14.9 mo). Patients with neuromuscular conditions and known connective tissue disorders were excluded. Primary outcomes assessed at minimum 2 years' follow-up included radiographic evidence of AVN (Kalamchi and MacEwen) or requiring FCS. MAOR and AAOR cohorts were similar regarding age at open reduction, sex, laterality, and follow-up duration. One hip in each group had AVN before open reduction thus were excluded from AVN analysis. At minimum 2 years postoperatively (mean 6.2; range, 1.8 to 11.7 y), 4/18 (22%) MAOR and 5/18 (28%) AAOR met the same criteria for AVN (P=1.0). No predictors of AVN could be identified by regression analysis. Presence of an ossific nucleus preoperatively was not a protective factor from AVN (P=0.27). FCS was required in 4/19 (21%) MAOR and 7/19 (37%) AAOR hips (P=0.48). However, 7/12 (54%) hips failing closed reduction required FCS compared with 4/26 (16%) hips without prior failed closed reduction (P=0.024). Cox regression analysis showed that patients who failed closed reduction had an annual risk of requiring FCS approximately 6 times that of patients without a history of failed closed reduction (hazard ratio=6.1; 95% CI, 1.5-24.4; P=0.009), independent of surgical approach (P=0.55) or length of follow-up (P=0.78). In this study of age-matched patients undergoing either MAOR or

  17. Chlamydiae in febrile children with respiratory tract symptoms and age-matched controls, Ghana

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    H. Bühl

    2018-03-01

    Full Text Available Members of the Chlamydiales order are obligate intracellular pathogens causing acute and chronic infectious diseases. Chlamydiaceae are established agents of community- and zoonotically acquired respiratory tract infections, and emerging pathogens among the Chlamydia-related bacteria have been implicated in airway infections. The role of both in airway infections in Africa is underexplored. We performed a case -control study on the prevalence of Chlamydiaceae and Chlamydia-related emerging pathogens in children with febrile respiratory tract infections in West Africa, Ghana. Using a pan-Chlamydiales broad-range real-time PCR, we detected chlamydial DNA in 11 (1.9% of 572 hospitalized febrile children with respiratory tract symptoms and in 24 (4.3% of 560 asymptomatic age-matched controls (p 0.03. Chlamydiaceae were found to be common among both symptomatic and healthy Ghanaian children, with Chlamydia pneumoniae being the most prevalent species. Parachlamydiaceae were detected in two children without symptoms but not in the symptomatic group. We identified neither Chlamydia psittaci nor Simkania negevensis but a member of a new chlamydial family that shared 90.2% sequence identity with the 16S rRNA gene of the zoonotic pathogen Chlamydia pecorum. In addition, we found a new Chlamydia-related species that belonged to a novel family sharing 91.3% 16S rRNA sequence identity with Candidatus Syngnamydia venezia. The prevalence and spectrum of chlamydial species differed from previous results obtained from children of other geographic regions and our study indicates that both, Chlamydiaceae and Chlamydia-related bacteria, are not clearly linked to clinical symptoms in Ghanaian children. Keywords: Children, Chlamydia, Chlamydia-related bacteria, febrile respiratory tract infection, Ghana

  18. Age-matched normal values and topographic maps for regional cerebral blood flow measurements by Xe-133 inhalation

    International Nuclear Information System (INIS)

    Matsuda, H.; Maeda, T.; Yamada, M.; Gui, L.X.; Tonami, N.; Hisada, K.

    1984-01-01

    The relationship between normal aging and regional cerebral blood flow (rCBF) computed as initial slope index (ISI) by Fourier method was investigated in 105 right-handed healthy volunteers (132 measurements) by Xe-133 inhalation method, and age-matched normal values were calculated. Mean brain ISI values showed significant negative correlation with advancing age (r . 0.70, p less than 0.001), and the regression line and its 95% confidence interval was Y . -0.32 (X - 19) + 63.5 +/- 11.2 (19 less than or equal to X less than or equal to 80). Regional ISI values also showed significant negative correlations for the entire brain (p less than 0.001). The regional reductions of ISI values with advancing age were significantly greater in the regional distribution of the middle cerebral arteries bilaterally, compared with regions in the distribution of the other arteries (p less than 0.05). Therefore, measured rCBF values for patients must be compared to age-matched normal values for mean hemispheric and each region examined. Two kinds of topographic maps, brain map showing rCBF compared to age-matched normal values and showing hemispheric differences were made by dividing patient's values by the 95% confidence limits for age-matched normal values and displaying laterality index calculated as follows, respectively. (formula; see text) These maps were useful for evaluating significantly decreased or increased regions and regional hemispheric differences

  19. Heart rate autonomic regulation system at rest and during paced breathing among patients with CRPS as compared to age-matched healthy controls.

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    Bartur, Gadi; Vatine, Jean-Jacques; Raphaely-Beer, Noa; Peleg, Sara; Katz-Leurer, Michal

    2014-09-01

    The objective of this study is to assess the autonomic nerve heart rate regulation system at rest and its immediate response to paced breathing among patients with complex regional pain syndrome (CRPS) as compared with age-matched healthy controls. Quasiexperimental. Outpatient clinic. Ten patients with CRPS and 10 age- and sex-matched controls. Participants underwent Holter ECG (NorthEast Monitoring, Inc., Maynard, MA, USA) recording during rest and biofeedback-paced breathing session. Heart rate variability (HRV), time, and frequency measures were assessed. HRV and time domain values were significantly lower at rest among patients with CRPS as compared with controls. A significant association was noted between pain rank and HRV frequency measures at rest and during paced breathing; although both groups reduced breathing rate significantly during paced breathing, HRV time domain parameters increased only among the control group. The increased heart rate and decreased HRV at rest in patients with CRPS suggest a general autonomic imbalance. The inability of the patients to increase HRV time domain values during paced breathing may suggest that these patients have sustained stress response with minimal changeability in response to slow-paced breathing stimuli. Wiley Periodicals, Inc.

  20. The Comparison of Sagittal Spinopelvic Parameters between Young Adult Patients with L5 Spondylolysis and Age-Matched Control Group

    Science.gov (United States)

    Oh, Young Min; Choi, Ha Young

    2013-01-01

    Objective To compare spinopelvic parameters in young adult patients with spondylolysis to those in age-matched patients without spondylolysis and investigate the clinical impact of sagittal spinopelvic parameters in patients with L5 spondylolysis. Methods From 2009 to 2012, a total of 198 young adult male patients with spondylolysis were identified. Eighty age-matched patients without spondylolysis were also selected. Standing lateral films that included both hip joints were obtained for each subject. Pelvic incidence (PI), sacral slope (SS), pelvic tilt, lumbar lordosis angle, sacral inclination, lumbosacral angle, and sacral table angle were measured in both groups. A comparative study of the spinopelvic parameters of these two groups was performed using SPSS 15.0 (SPSS Inc., Chicago, IL, USA). Results Among the aforementioned spinopelvic parameters, PI, SS and STA were significantly different between patients with spondylolysis and those without spondylolysis. PI and SS were higher in the spondylolysis group than in the control group, but STA was lower in the spondylolysis group than in the control group. Conclusion PI and SS were higher in the spondylolysis group than in the control group, but STA was lower in the spondylolysis group than in the control group. Patients with spondylolysis have low STA at birth, which remains constant during growth; a low STA translates into high SS. As a result, PI is also increased in accordance with SS. Therefore, we suggest that STA is an important etiologic factor in young adult patients with L5 spondylolysis. PMID:24278649

  1. Computed tomography of the brain in cases with venous vasculitis compared with an age-matched reference group

    International Nuclear Information System (INIS)

    Hannerz, J.; Ericson, K.; Bergstrand, G.; Berggren, B.M.; Edman, G.; Karolinska Sjukhuset, Stockholm; Karolinska Sjukhuset, Stockholm

    1988-01-01

    Patients with a particular, steroid-sensitive headache and often characteristic pathology at orbital phlebography, have been suggested to suffer from venous vasculitis. Fifty such patients were examined with computed tomography (CT) of the brain. The findings were compared with those of an age-matched reference group selected at random to represent normal subjects. The CT examinations were analyzed with respect to size of lateral ventricles and signs of atrophy. In both groups, there was a significant increase of atrophy with age. There was also a significantly higher degree of atrophy in the patient group as compared with the reference group. The findings indicate that the supposedly underlying venous vasculitis is related to early aging and atrophy of the brain. (orig.)

  2. Nutritional status in edentulous people as compared to age matched dentate individuals-a cross-sectional study

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    Sukhabogi Jagadeeswara Rao

    2013-01-01

    Full Text Available Objectives: To assess the nutritional status in completely edentulous subjects and to compare with age matched dentate individuals. Materials and Method: The study was carried out in 60 individuals divided into two groups. Group one consisted of 30 edentulous subjects and 30 dentate individuals formed the second group Body Mass Index (BMI, serum albumin and hemoglobin values were analyzed in both the groups. Independent sample t- test was employed to check for the difference between the groups and Pearson′s correlation was done to ascertain the association between the variables within the groups. Results: There was a significant difference in all the biomarkers evaluated in between the groups. The values were negatively correlated with the period of edentulism within the groups. Conclusion: Edentulous people had lower nutritional values than their dentate counterparts and maintaining a healthy and normal dentition may have significant bearing on the overall health of an individual. body mass index, serum albumin, malnutrition, edentulous, dental status

  3. Functional Aspects of Gait in Essential Tremor: A Comparison with Age-Matched Parkinson's Disease Cases, Dystonia Cases, and Controls.

    Science.gov (United States)

    Louis, Elan D; Rao, Ashwini K

    2015-01-01

    An understanding of the functional aspects of gait and balance has wide ramifications. Individuals with balance disorders often restrict physical activity, travel, and social commitments to avoid falling, and loss of balance confidence, itself, is a source of disability. We studied the functional aspects of gait in patients with essential tremor (ET), placing their findings within the context of two other neurological disorders (Parkinson's disease [PD] and dystonia) and comparing them with age-matched controls. We administered the six-item Activities of Balance Confidence (ABC-6) Scale and collected data on number of falls and near-falls, and use of walking aids in 422 participants (126 ET, 77 PD, 46 dystonia, 173 controls). Balance confidence was lowest in PD, intermediate in ET, and relatively preserved in dystonia compared with controls. This ordering reoccurred for each of the six ABC-6 items. The number of near-falls and falls followed a similar ordering. Use of canes, walkers, and wheelchairs was elevated in ET and even greater in PD. Several measures of balance confidence (ABC-6 items 1, 4, 5, and 6) were lower in torticollis cases than in those with blepharospasm, although the two groups did not differ with respect to falls or use of walking aids. Lower balance confidence, increased falls, and greater need for walking aids are variably features of a range of movement disorder patients compared to age-matched controls. While most marked among PD patients, these issues affected ET patients as well and, to a small degree, some patients with dystonia.

  4. Preserved learning during the Symbol Digit Substitution Test in patients with schizophrenia, age-matched controls and elderly

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    Claudia eCornelis

    2015-01-01

    Full Text Available Objective: Speed of processing, one of the main cognitive deficits in schizophrenia is most frequently measured with a digit symbol-coding test. Performance on this test is additionally affected by writing speed and the rate at which symbol-digit relationships are learned, two factors that may be impaired in schizophrenia. This study aims to investigate the effects of sensorimotor speed, short-term learning and long-term learning on task performance in schizophrenia. In addition the study aims to explore differences in learning effects between patients with schizophrenia and elderly individuals. Methods: Patients with schizophrenia (N=30 were compared with age-matched healthy controls (N=30 and healthy elderly volunteers (N=30 during the Symbol Digit Subsstitution Test (SDST. The task was administered on a digitizing tablet, allowing precise measurements of the time taken to write each digit (writing time and the time to decode symbols into their corresponding digits (matching time. The SDST was administered on three separate days (day 1, day 2, day 7. Symbol-digit repetitions during the task represented short-term learning and repeating the task on different days represented long-term learning.Results: The repetition of the same symbol-digit combinations within one test and the repetition of the test over days resulted in significant decreases in matching time. Interestingly, these short-term and long-term learning effects were about equal among the three groups. Individual participants showed a large variation in the rate of short-term learning. In general, patients with schizophrenia had the longest matching time whereas the elderly had the longest writing time. Writing time remained the same over repeated testing.Conclusion: The rate of learning and sensorimotor speed were found to have a substantial influence on the SDST score. However, large individual variation in learning rate should be taken into account in the interpretation of task

  5. Individualized behavioral assessments and maternal ratings of mastery motivation in mental age-matched toddlers with and without motor delay.

    Science.gov (United States)

    Wang, Pei-Jung; Morgan, George A; Hwang, Ai-Wen; Liao, Hua-Fang

    2013-01-01

    Mastery motivation is a precursor of future developmental outcomes. Evidence about whether toddlers with motor delay have lower mastery motivation is inconclusive. The purpose of this study was to examine differences between mental age-matched toddlers with and without motor delay on various mastery motivation indicators. A mental age- and sex-matched case-control study was performed. Twenty-two children with motor delay, aged 23 to 47 months, and 22 children who were developing typically, aged 15 to 29 months, were recruited. Persistence and mastery pleasure were measured with behavioral tasks that were moderately challenging for each child and with maternal ratings using the Dimensions of Mastery Questionnaire (DMQ). The DMQ was rated by each child's mother based on her perception of her child's motivation. Two types of structured tasks (a puzzle and a cause-effect toy selected to be moderately challenging for each child) were administered in a laboratory setting and recorded on videos. Paired t tests or Wilcoxon signed rank tests were used to examine group differences in persistence and mastery pleasure (α=.007, 2-tailed). Children with motor delay were rated lower on DMQ persistence than the typically developing group, but they did not show significantly lower persistence on the structured tasks. There were no significant differences in mastery pleasure between the 2 groups on either measure. Large within-sample variability on the tasks and small sample size makes subgroup analysis (eg, different severities) difficult. Toddlers with motor delay did not show lower persistence and pleasure when given tasks that were moderately challenging; however, their mothers tended to view them as having lower motivation. Clinicians and parents should provide appropriately challenging tasks to increase children's success and motivation.

  6. Preserved Learning during the Symbol-Digit Substitution Test in Patients with Schizophrenia, Age-Matched Controls, and Elderly.

    Science.gov (United States)

    Cornelis, Claudia; De Picker, Livia J; Hulstijn, Wouter; Dumont, Glenn; Timmers, Maarten; Janssens, Luc; Sabbe, Bernard G C; Morrens, Manuel

    2014-01-01

    Speed of processing, one of the main cognitive deficits in schizophrenia is most frequently measured with a digit-symbol-coding test. Performance on this test is additionally affected by writing speed and the rate at which symbol-digit relationships are learned, two factors that may be impaired in schizophrenia. This study aims to investigate the effects of sensorimotor speed, short-term learning, and long-term learning on task performance in schizophrenia. In addition, the study aims to explore differences in learning effects between patients with schizophrenia and elderly individuals. Patients with schizophrenia (N = 30) were compared with age-matched healthy controls (N = 30) and healthy elderly volunteers (N = 30) during the Symbol-Digit Substitution Test (SDST). The task was administered on a digitizing tablet, allowing precise measurements of the time taken to write each digit (writing time) and the time to decode symbols into their corresponding digits (matching time). The SDST was administered on three separate days (day 1, day 2, day 7). Symbol-digit repetitions during the task represented short-term learning and repeating the task on different days represented long-term learning. The repetition of the same symbol-digit combinations within one test and the repetition of the test over days resulted in significant decreases in matching time. Interestingly, these short-term and long-term learning effects were about equal among the three groups. Individual participants showed a large variation in the rate of short-term learning. In general, patients with schizophrenia had the longest matching time whereas the elderly had the longest writing time. Writing time remained the same over repeated testing. The rate of learning and sensorimotor speed was found to have a substantial influence on the SDST score. However, a large individual variation in learning rate should be taken into account in the interpretation of task scores for processing speed. Equal

  7. The retinal nerve fibre layer thickness in glaucomatous hydrophthalmic eyes assessed by scanning laser polarimetry with variable corneal compensation in comparison with age-matched healthy children.

    Science.gov (United States)

    Hložánek, Martin; Ošmera, Jakub; Ležatková, Pavlína; Sedláčková, Petra; Filouš, Aleš

    2012-12-01

    To compare the thickness of the retinal nerve fibre layer (RNFL) in hydrophthalmic glaucomatous eyes in children with age-matched healthy controls using scanning laser polarimetry with variable corneal compensation (GDxVCC). Twenty hydrophthalmic eyes of 20 patients with the mean age of 10.64 ± 3.02 years being treated for congenital or infantile glaucoma were included in the analysis. Evaluation of RNFL thickness measured by GDxVCC in standard Temporal-Superior-Nasal-Inferior-Temporal (TSNIT) parameters was performed. The results were compared to TSNIT values of an age-matched control group of 120 healthy children published recently as referential values. The correlation between horizontal corneal diameter and RNFL thickness in hydrophthalmic eyes was also investigated. The mean ± SD values in TSNIT Average, Superior Average, Inferior Average and TSNIT SD in hydrophthalmic eyes were 52.3 ± 11.4, 59.7 ± 17.1, 62.0 ± 15.6 and 20.0 ± 7.8 μm, respectively. All these values were significantly lower compared to referential TSNIT parameters of age-matched healthy eyes (p = 0.021, p = 0.001, p = 0.003 and p = 0.018, respectively). A substantial number of hydrophthalmic eyes laid below the level of 5% probability of normality in respective TSNIT parameters: 30% of the eyes in TSNIT average, 50% of the eyes in superior average, 30% of the eyes in inferior average and 45% of the eyes in TSNIT SD. No significant correlation between enlarged corneal diameter and RNFL thickness was found. The mean values of all standard TSNIT parameters assessed using GDxVCC in hydrophthalmic glaucomatous eyes in children were significantly lower in comparison with referential values of healthy age-matched children. © 2011 The Authors. Acta Ophthalmologica © 2011 Acta Ophthalmologica Scandinavica Foundation.

  8. Exercise performance and cardiovascular health variables in 70-year-old male soccer players compared to endurance-trained, strength-trained and untrained age-matched men

    DEFF Research Database (Denmark)

    Randers, Morten Bredsgaard; Andersen, Jesper Løvind; Petersen, Jesper

    2014-01-01

    Abstract The aim was to investigate performance variables and indicators of cardiovascular health profile in elderly soccer players (SP, n = 11) compared to endurance-trained (ET, n = 8), strength-trained (ST, n = 7) and untrained (UT, n = 7) age-matched men. The 33 men aged 65-85 years underwent...

  9. Comparative gait analysis between children with autism and age-matched controls: analysis with temporal-spatial and foot pressure variables

    OpenAIRE

    Lim, Bee-Oh; O?Sullivan, David; Choi, Bum-Gwon; Kim, Mi-Young

    2016-01-01

    [Purpose] The purpose of this study was to investigate the gait pattern of children with autism by using a gait analysis system. [Subjects] Thirty children were selected for this study: 15 with autism (age, 11.2 ? 2.8?years; weight, 48.1 ? 14.1?kg; height, 1.51 ? 0.11 m) and 15 healthy age-matched controls (age, 11.0 ? 2.9?years; weight, 43.6 ? 10?kg; height, 1.51 ? 0.011 m). [Methods] All participants walked three times on the GAITRite? system while their plantar pressure was being recorded....

  10. A Comparison of the Metalinguistic Performance and Spelling Development of Children With Inconsistent Speech Sound Disorder and Their Age-Matched and Reading-Matched Peers.

    Science.gov (United States)

    McNeill, Brigid C; Wolter, Julie; Gillon, Gail T

    2017-05-17

    This study explored the specific nature of a spelling impairment in children with speech sound disorder (SSD) in relation to metalinguistic predictors of spelling development. The metalinguistic (phoneme, morphological, and orthographic awareness) and spelling development of 28 children ages 6-8 years with a history of inconsistent SSD were compared to those of their age-matched (n = 28) and reading-matched (n = 28) peers. Analysis of the literacy outcomes of children within the cohort with persistent (n = 18) versus resolved (n = 10) SSD was also conducted. The age-matched peers outperformed the SSD group on all measures. Children with SSD performed comparably to their reading-matched peers on metalinguistic measures but exhibited lower spelling scores. Children with persistent SSD generally had less favorable outcomes than children with resolved SSD; however, even children with resolved SSD performed poorly on normative spelling measures. Children with SSD have a specific difficulty with spelling that is not commensurate with their metalinguistic and reading ability. Although low metalinguistic awareness appears to inhibit these children's spelling development, other factors should be considered, such as nonverbal rehearsal during spelling attempts and motoric ability. Integration of speech-production and spelling-intervention goals is important to enhance literacy outcomes for this group.

  11. A method for age-matched OCT angiography deviation mapping in the assessment of disease- related changes to the radial peripapillary capillaries.

    Science.gov (United States)

    Pinhas, Alexander; Linderman, Rachel; Mo, Shelley; Krawitz, Brian D; Geyman, Lawrence S; Carroll, Joseph; Rosen, Richard B; Chui, Toco Y

    2018-01-01

    To present a method for age-matched deviation mapping in the assessment of disease-related changes to the radial peripapillary capillaries (RPCs). We reviewed 4.5x4.5mm en face peripapillary OCT-A scans of 133 healthy control eyes (133 subjects, mean 41.5 yrs, range 11-82 yrs) and 4 eyes with distinct retinal pathologies, obtained using spectral-domain optical coherence tomography angiography. Statistical analysis was performed to evaluate the impact of age on RPC perfusion densities. RPC density group mean and standard deviation maps were generated for each decade of life. Deviation maps were created for the diseased eyes based on these maps. Large peripapillary vessel (LPV; noncapillary vessel) perfusion density was also studied for impact of age. Average healthy RPC density was 42.5±1.47%. ANOVA and pairwise Tukey-Kramer tests showed that RPC density in the ≥60yr group was significantly lower compared to RPC density in all younger decades of life (pDeviation mapping enabled us to quantitatively and visually elucidate the significance of RPC density changes in disease. It is important to consider changes that occur with aging when analyzing RPC and LPV density changes in disease. RPC density, coupled with age-matched deviation mapping techniques, represents a potentially clinically useful method in detecting changes to peripapillary perfusion in disease.

  12. Immediate and long-term relationship between severe maternal morbidity and health-related quality of life: a prospective double cohort comparison study

    Directory of Open Access Journals (Sweden)

    Mohd Noor Norhayati

    2016-08-01

    Full Text Available Abstract Background Given the growing interest in severe maternal morbidity (SMM, the need to assess its effects on quality of life is pressing. The objective of this study was to compare the quality of life scores between women with and without SMM at 1-month and 6-month postpartum in Kelantan, Malaysia. Methods A prospective double cohort study design was applied at two tertiary referral hospitals over a 6-month period. The study population included all postpartum women who delivered in 2014. Postpartum women with and without SMM were selected as the exposed and non-exposed groups, respectively. For each exposed case identified, a non-exposed case with a similar mode of delivery was selected. The main outcome measures used were scores from the Short Form-12 Health Survey (SF-12. Results The study measured 145 exposed and 187 non-exposed women. The group-time interaction of the repeated measure analysis of variance (RM ANOVA showed no significant difference in the mean overall SF-12 physical component summary score changes (P = 0.534 between women with and without SMM. Similarly, the group-time interaction of the RM ANOVA showed no significant difference in the mean overall SF-12 mental component summary score changes (P = 0.674 between women with and without SMM. However, women with SMM scored significantly lower on a general health perceptions subscale at 1-month (P = 0.031, role limitations due to physical health subscale at 6-month (P = 0.019, vitality subscale at 1-month (P = 0.007 and 6-month (P = 0.008, and role limitations due to emotional problems subscales at 6-month (P = 0.008. Conclusions Women with severe maternal morbidity demonstrated comparable quality of life during the 6-month postpartum period compared to women without severe maternal morbidity.

  13. P300-based brain-computer interface (BCI) event-related potentials (ERPs): People with amyotrophic lateral sclerosis (ALS) vs. age-matched controls.

    Science.gov (United States)

    McCane, Lynn M; Heckman, Susan M; McFarland, Dennis J; Townsend, George; Mak, Joseph N; Sellers, Eric W; Zeitlin, Debra; Tenteromano, Laura M; Wolpaw, Jonathan R; Vaughan, Theresa M

    2015-11-01

    Brain-computer interfaces (BCIs) aimed at restoring communication to people with severe neuromuscular disabilities often use event-related potentials (ERPs) in scalp-recorded EEG activity. Up to the present, most research and development in this area has been done in the laboratory with young healthy control subjects. In order to facilitate the development of BCI most useful to people with disabilities, the present study set out to: (1) determine whether people with amyotrophic lateral sclerosis (ALS) and healthy, age-matched volunteers (HVs) differ in the speed and accuracy of their ERP-based BCI use; (2) compare the ERP characteristics of these two groups; and (3) identify ERP-related factors that might enable improvement in BCI performance for people with disabilities. Sixteen EEG channels were recorded while people with ALS or healthy age-matched volunteers (HVs) used a P300-based BCI. The subjects with ALS had little or no remaining useful motor control (mean ALS Functional Rating Scale-Revised 9.4 (±9.5SD) (range 0-25)). Each subject attended to a target item as the items in a 6×6 visual matrix flashed. The BCI used a stepwise linear discriminant function (SWLDA) to determine the item the user wished to select (i.e., the target item). Offline analyses assessed the latencies, amplitudes, and locations of ERPs to the target and non-target items for people with ALS and age-matched control subjects. BCI accuracy and communication rate did not differ significantly between ALS users and HVs. Although ERP morphology was similar for the two groups, their target ERPs differed significantly in the location and amplitude of the late positivity (P300), the amplitude of the early negativity (N200), and the latency of the late negativity (LN). The differences in target ERP components between people with ALS and age-matched HVs are consistent with the growing recognition that ALS may affect cortical function. The development of BCIs for use by this population may begin

  14. No difference in the frequency of locus-specific methylation in the peripheral blood DNA of women diagnosed with breast cancer and age-matched controls

    DEFF Research Database (Denmark)

    Wojdacz, Tomasz K; Thestrup, Britta Boserup; Cold, Søren

    2011-01-01

    with no signs of breast cancer. No significant differences in the frequency of methylation of the above genes were found between cases and controls in our study. Hence, testing for the presence of methylation of cancer-related genes in PBL DNA from women diagnosed with sporadic breast cancer and classified...... might predispose for cancer development. Here, we have used the methlyation-sensitive high-resolution melting approach to examine the methylation status of the BRCA1, BRCA2, APC, RASSF1A and RARβ2 genes in PBLs of a group of women diagnosed with breast cancer, and an age-matched control group......, to the pathology of different diseases, remains open. Recently, a number of studies addressed the question of the prevalence of aberrant methylation of cancer-related genes in peripheral blood leukocyte (PBL) DNA and indicated a strong possibility that the presence of constitutional methylation of different genes...

  15. Sensorimotor control of tracking movements at various speeds for stroke patients as well as age-matched and young healthy subjects.

    Directory of Open Access Journals (Sweden)

    Di Ao

    Full Text Available There are aging- and stroke-induced changes on sensorimotor control in daily activities, but their mechanisms have not been well investigated. This study explored speed-, aging-, and stroke-induced changes on sensorimotor control. Eleven stroke patients (affected sides and unaffected sides and 20 control subjects (10 young and 10 age-matched individuals were enrolled to perform elbow tracking tasks using sinusoidal trajectories, which included 6 target speeds (15.7, 31.4, 47.1, 62.8, 78.5, and 94.2 deg/s. The actual elbow angle was recorded and displayed on a screen as visual feedback, and three indicators, the root mean square error (RMSE, normalized integrated jerk (NIJ and integral of the power spectrum density of normalized speed (IPNS, were used to investigate the strategy of sensorimotor control. Both NIJ and IPNS had significant differences among the four groups (P<0.01, and the values were ranked in the following order: young controls < age-matched controls

  16. Executive Functions in Individuals with Williams Syndrome

    Science.gov (United States)

    Menghini, D.; Addona, F.; Costanzo, F.; Vicari, S.

    2010-01-01

    Background: The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. Method: In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning,…

  17. Confirming the cognition of rising scores: Fox and Mitchum (2013) predicts violations of measurement invariance in series completion between age-matched cohorts.

    Science.gov (United States)

    Fox, Mark C; Mitchum, Ainsley L

    2014-01-01

    The trend of rising scores on intelligence tests raises important questions about the comparability of variation within and between time periods. Descriptions of the processes that mediate selection of item responses provide meaningful psychological criteria upon which to base such comparisons. In a recent paper, Fox and Mitchum presented and tested a cognitive theory of rising scores on analogical and inductive reasoning tests that is specific enough to make novel predictions about cohort differences in patterns of item responses for tests such as the Raven's Matrices. In this paper we extend the same proposal in two important ways by (1) testing it against a dataset that enables the effects of cohort to be isolated from those of age, and (2) applying it to two other inductive reasoning tests that exhibit large Flynn effects: Letter Series and Word Series. Following specification and testing of a confirmatory item response model, predicted violations of measurement invariance are observed between two age-matched cohorts that are separated by only 20 years, as members of the later cohort are found to map objects at higher levels of abstraction than members of the earlier cohort who possess the same overall level of ability. Results have implications for the Flynn effect and cognitive aging while underscoring the value of establishing psychological criteria for equating members of distinct groups who achieve the same scores.

  18. Sensorimotor Control of Tracking Movements at Various Speeds for Stroke Patients as Well as Age-Matched and Young Healthy Subjects

    Science.gov (United States)

    Ao, Di; Song, Rong; Tong, Kai-yu

    2015-01-01

    There are aging- and stroke-induced changes on sensorimotor control in daily activities, but their mechanisms have not been well investigated. This study explored speed-, aging-, and stroke-induced changes on sensorimotor control. Eleven stroke patients (affected sides and unaffected sides) and 20 control subjects (10 young and 10 age-matched individuals) were enrolled to perform elbow tracking tasks using sinusoidal trajectories, which included 6 target speeds (15.7, 31.4, 47.1, 62.8, 78.5, and 94.2 deg/s). The actual elbow angle was recorded and displayed on a screen as visual feedback, and three indicators, the root mean square error (RMSE), normalized integrated jerk (NIJ) and integral of the power spectrum density of normalized speed (IPNS), were used to investigate the strategy of sensorimotor control. Both NIJ and IPNS had significant differences among the four groups (Pcontrols controls control. The RMSE increased with the increase in the target speed and the NIJ and IPNS initially declined and then remained steady for all four groups, which indicated a shift from feedback to feedforward control as the target speed increased. The feedback-feedforward trade-off induced by stroke, aging and speed might be explained by a change in the transmission delay and neuromotor noise. The findings in this study improve our understanding of the mechanism underlying the sensorimotor control and neurological changes caused by stroke and aging. PMID:26030289

  19. [Motor skills and safety of patients with bi- or trimalleolar ankle injury : Comparison with healthy, active, age-matched control subjects].

    Science.gov (United States)

    Loudovici-Krug, Dana; Benkenstein, Monique; Derlien, Steffen; Best, Norman

    2018-06-01

    Do patients with bi- or trimalleolar ankle injury show differences in motor skills and safety in comparison with healthy, active, age-matched control subjects? Prospective controlled cross-sectional study. Inclusion of 17 patients with bi- or trimalleolar ankle injury (mean 1.5 years postsurgery) and 23 healthy, active subjects of comparable age (fitness studio). Measurement instruments: motor test procedures and questionnaires. Comparison of patients and control subjects by routine daily motor function: patients  0.05), fear of falling: patients > controls (p = 0.003) and physical activity: patients motor deficits in activities of daily life between the patients and controls, only tendencies; however, the patients showed definite limitations with an increased fear of falling and a reduced physical activity compared with the healthy control group. The resulting differences should be positively influenced by appropriate enhancement of training or participation in sports courses. The aim is to achieve a similar quality of life by a perception of safety and trust in one's own motor skills.

  20. Confirming the cognition of rising scores: Fox and Mitchum (2013 predicts violations of measurement invariance in series completion between age-matched cohorts.

    Directory of Open Access Journals (Sweden)

    Mark C Fox

    Full Text Available The trend of rising scores on intelligence tests raises important questions about the comparability of variation within and between time periods. Descriptions of the processes that mediate selection of item responses provide meaningful psychological criteria upon which to base such comparisons. In a recent paper, Fox and Mitchum presented and tested a cognitive theory of rising scores on analogical and inductive reasoning tests that is specific enough to make novel predictions about cohort differences in patterns of item responses for tests such as the Raven's Matrices. In this paper we extend the same proposal in two important ways by (1 testing it against a dataset that enables the effects of cohort to be isolated from those of age, and (2 applying it to two other inductive reasoning tests that exhibit large Flynn effects: Letter Series and Word Series. Following specification and testing of a confirmatory item response model, predicted violations of measurement invariance are observed between two age-matched cohorts that are separated by only 20 years, as members of the later cohort are found to map objects at higher levels of abstraction than members of the earlier cohort who possess the same overall level of ability. Results have implications for the Flynn effect and cognitive aging while underscoring the value of establishing psychological criteria for equating members of distinct groups who achieve the same scores.

  1. Patients with endometriosis have aneuploidy rates equivalent to their age-matched peers in the in vitro fertilization population.

    Science.gov (United States)

    Juneau, Caroline; Kraus, Emily; Werner, Marie; Franasiak, Jason; Morin, Scott; Patounakis, George; Molinaro, Thomas; de Ziegler, Dominique; Scott, Richard T

    2017-08-01

    To determine whether endometriosis ultimately results in an increased risk of embryonic aneuploidy. Retrospective cohort. Infertility clinic. Patients participating in an in vitro fertilization (IVF) cycle from 2009-2015 using preimplantation genetic screening (PGS) who had endometriosis identified by surgical diagnosis or by ultrasound findings consistent with a persistent space-occupying disease whose sonographic appearance was consistent with endometriosis. None. Rate of aneuploidy in endometriosis patients undergoing IVF compared to controls without endometriosis undergoing IVF. There were 305 patients with endometriosis who produced 1,880 blastocysts that met the criteria for inclusion in the endometriosis group. The mean age of the patients with endometriosis was 36.1 ± 3.9 years. When the aneuploidy rates in patients with endometriosis and aneuploidy rates in patients without endometriosis were stratified by Society for Assisted Reproductive Technology age groups and compared, there were no statistically significant differences in the rate of aneuploidy (odds ratio 0.85; 95% confidence interval, 0.84-0.85). Patients with endometriosis undergoing IVF have aneuploidy rates equivalent to their age-matched peers in IVF population who do not have endometriosis. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  2. Stable schizophrenia patients learn equally well as age-matched controls and better than elderly controls in two sensorimotor Rotary Pursuit tasks

    Directory of Open Access Journals (Sweden)

    Livia J. De Picker

    2014-11-01

    Full Text Available Objective: To compare sensorimotor performance and learning in stable schizophrenia patients, healthy age- and sex-matched controls and elderly controls on two variations of the Rotary Pursuit: Circle Pursuit (true motor learning and Figure Pursuit (motor and sequence learning.Method: In the Circle Pursuit a target circle, rotating with increasing speed along a predictable circular path on the computer screen, must be followed by a cursor controlled by a pen on a writing tablet. In the eight-trial Figure Pursuit, subjects learn to draw a complex figure by pursuing the target circle that moves along an invisible trajectory between and around several goals. Tasks were administered thrice (day 1, day 2, day 7 to 30 patients with stable schizophrenia (S, 30 healthy age- and sex-matched controls (C and 30 elderly participants (>65y; E and recorded with a digitizing tablet and pressure-sensitive pen. The outcome measure accuracy (% of time that cursor is within the target was used to assess performance.Results: We observed significant group differences in accuracy, both in Circle and Figure Pursuit tasks (Eage-matched controls were equal and both were larger than those of the elderly controls. Conclusion: Despite the reduced sensorimotor performance that was found in the schizophrenia patients their sensorimotor learning seems to be preserved. The relevance of this finding for the evaluation of procedural learning in schizophrenia is discussed. The better performance and learning rate of the patients compared to the elderly controls was unexpected and deserves further study.

  3. Body Size Changes Among National Collegiate Athletic Association New England Division III Football Players, 1956-2014: Comparison With Age-Matched Population Controls.

    Science.gov (United States)

    Elliott, Kayla R; Harmatz, Jerold S; Zhao, Yanli; Greenblatt, David J

    2016-05-01

    Collegiate football programs encourage athletes to pursue high body weights. To examine position-dependent trends over time in body size characteristics among football players in the National Collegiate Athletic Association Division III New England Small College Athletic Conference (NESCAC) from 1956 to 2014 and to compare the observed absolute and relative changes with those in age-matched male population controls. Descriptive laboratory study. Medical school affiliated with a NESCAC institution. Football team rosters from the 10-member NESCAC schools, available as public documents, were analyzed along with body size data from general population males aged 20 to 29 years from the National Health and Nutrition Examination Survey (NHANES). Body weight, height, and calculated body mass index were evaluated using analysis of variance, linear regression, and nonlinear regression to determine the distribution features of size variables and changes associated with time (year), school, and position. Among NESCAC linemen, absolute and relative changes over time in body weight and body mass index exceeded corresponding changes in the NHANES population controls. New England Small College Athletic Conference offensive linemen body weights increased by 37.5% from 1956 to 2014 (192 to 264 lb [86.4 to 118.8 kg]), compared with a 12% increase (164 to 184 lb [73.8 to 82.8 kg]) since 1961 in the NHANES population controls. Body mass index changed in parallel with body weight and exceeded 35 kg/m(2) in more than 30% of contemporary NESCAC offensive linemen. Among skill players in the NESCAC group, time-related changes in body size characteristics generally paralleled those in the NHANES controls. High body weight and body mass indices were evident in offensive linemen, even among those in Division III football programs with no athletic scholarships. These characteristics may be associated with adverse cardiovascular and metabolic outcomes. We need approaches to encourage risk

  4. Transcriptomics of maternal and fetal membranes can discriminate between gestational-age matched preterm neonates with and without cognitive impairment diagnosed at 18-24 months.

    Directory of Open Access Journals (Sweden)

    Athina Pappas

    Full Text Available Neurocognitive impairment among children born preterm may arise from complex interactions between genes and the intra-uterine environment.(1 To characterize the transcriptomic profiles of chorioamniotic membranes in preterm neonates with and without neurocognitive impairment via microarrays and (2 to determine if neonates with neurocognitive impairment can be identified at birth.A retrospective case-control study was conducted to examine the chorioamniotic transcriptome of gestational-age matched very preterm neonates with and without neurocognitive impairment at 18-24 months' corrected-age defined by a Bayley-III Cognitive Composite Score 1.5; 2 Gene ontology analysis indicated enrichment of 19 biological processes and 3 molecular functions; 3PADOG identified 4 significantly perturbed KEGG pathways: oxidative phosphorylation, Parkinson's disease, Alzheimer's disease and Huntington's disease (q-value <0.1; 4 48 of 90 selected differentially expressed genes were confirmed by qRT-PCR, including genes implicated in energy metabolism, neuronal signaling, vascular permeability and response to injury (e.g., up-regulation of SEPP1, APOE, DAB2, CD163, CXCL12, VWF; down-regulation of HAND1, OSR1(p<0.05; and 5 a multi-gene model predicted 18-24 month neurocognitive impairment (using the ratios of OSR1/VWF and HAND1/VWF at birth in a larger, independent set (sensitivity = 74%, at specificity = 83%.Gene expression patterns in the chorioamniotic membranes link neurocognitive impairment in preterm infants to neurodegenerative disease pathways and might be used to predict neurocognitive impairment. Further prospective studies are needed.

  5. Differential gene expression in liver and small intestine from lactating rats compared to age-matched virgin controls detects increased mRNA of cholesterol biosynthetic genes

    Directory of Open Access Journals (Sweden)

    Jungsuwadee Paiboon

    2011-02-01

    Full Text Available Abstract Background Lactation increases energy demands four- to five-fold, leading to a two- to three-fold increase in food consumption, requiring a proportional adjustment in the ability of the lactating dam to absorb nutrients and to synthesize critical biomolecules, such as cholesterol, to meet the dietary needs of both the offspring and the dam. The size and hydrophobicity of the bile acid pool increases during lactation, implying an increased absorption and disposition of lipids, sterols, nutrients, and xenobiotics. In order to investigate changes at the transcriptomics level, we utilized an exon array and calculated expression levels to investigate changes in gene expression in the liver, duodenum, jejunum, and ileum of lactating dams when compared against age-matched virgin controls. Results A two-way mixed models ANOVA was applied to detect differentially expressed genes. Significance calls were defined as a p Cyp7a1, which catalyzes the rate limiting step in the bile acid biosynthetic pathway, was also significantly increased in liver. In addition, decreased levels of mRNA associated with T-cell signaling were found in the jejunum and ileum. Several members of the Solute Carrier (SLC and Adenosine Triphosphate Binding Cassette (ABC superfamilies of membrane transporters were found to be differentially expressed; these genes may play a role in differences in nutrient and xenobiotic absorption and disposition. mRNA expression of SLC39a4_predicted, a zinc transporter, was increased in all tissues, suggesting that it is involved in increased zinc uptake during lactation. Microarray data are available through GEO under GSE19175. Conclusions We detected differential expression of mRNA from several pathways in lactating dams, including upregulation of the cholesterol biosynthetic pathway in liver and intestine, consistent with Srebp activation. Differential T-Cell signaling in the two most distal regions of the small intestine (ileum and

  6. Subjective cognitive impairment and brain structural networks in Chinese gynaecological cancer survivors compared with age-matched controls: a cross-sectional study.

    Science.gov (United States)

    Zeng, Yingchun; Cheng, Andy S K; Song, Ting; Sheng, Xiujie; Zhang, Yang; Liu, Xiangyu; Chan, Chetwyn C H

    2017-11-28

    Subjective cognitive impairment can be a significant and prevalent problem for gynaecological cancer survivors. The aims of this study were to assess subjective cognitive functioning in gynaecological cancer survivors after primary cancer treatment, and to investigate the impact of cancer treatment on brain structural networks and its association with subjective cognitive impairment. This was a cross-sectional survey using a self-reported questionnaire by the Functional Assessment of Cancer Therapy-Cognitive Function (FACT-Cog) to assess subjective cognitive functioning, and applying DTI (diffusion tensor imaging) and graph theoretical analyses to investigate brain structural networks after primary cancer treatment. A total of 158 patients with gynaecological cancer (mean age, 45.86 years) and 130 age-matched non-cancer controls (mean age, 44.55 years) were assessed. Patients reported significantly greater subjective cognitive functioning on the FACT-Cog total score and two subscales of perceived cognitive impairment and perceived cognitive ability (all p values impairment (r = -0.388, p = 0.034). When compared with non-cancer controls, a considerable proportion of gynaecological cancer survivors may exhibit subjective cognitive impairment. This study provides the first evidence of brain structural network alteration in gynaecological cancer patients at post-treatment, and offers novel insights regarding the possible neurobiological mechanism of cancer-related cognitive impairment (CRCI) in gynaecological cancer patients. As primary cancer treatment can result in a more random organisation of structural brain networks, this may reduce brain functional specificity and segregation, and have implications for cognitive impairment. Future prospective and longitudinal studies are needed to build upon the study findings in order to assess potentially relevant clinical and psychosocial variables and brain network measures, so as to more accurately understand the

  7. Body Size Changes Among National Collegiate Athletic Association New England Division III Football Players, 1956−2014: Comparison With Age-Matched Population Controls

    Science.gov (United States)

    Elliott, Kayla R.; Harmatz, Jerold S.; Zhao, Yanli; Greenblatt, David J.

    2016-01-01

    Context:  Collegiate football programs encourage athletes to pursue high body weights. Objective:  To examine position-dependent trends over time in body size characteristics among football players in the National Collegiate Athletic Association Division III New England Small College Athletic Conference (NESCAC) from 1956 to 2014 and to compare the observed absolute and relative changes with those in age-matched male population controls. Design:  Descriptive laboratory study. Setting:  Medical school affiliated with a NESCAC institution. Patients or Other Participants:  Football team rosters from the 10-member NESCAC schools, available as public documents, were analyzed along with body size data from general population males aged 20 to 29 years from the National Health and Nutrition Examination Survey (NHANES). Main Outcome Measure(s):  Body weight, height, and calculated body mass index were evaluated using analysis of variance, linear regression, and nonlinear regression to determine the distribution features of size variables and changes associated with time (year), school, and position. Results:  Among NESCAC linemen, absolute and relative changes over time in body weight and body mass index exceeded corresponding changes in the NHANES population controls. New England Small College Athletic Conference offensive linemen body weights increased by 37.5% from 1956 to 2014 (192 to 264 lb [86.4 to 118.8 kg]), compared with a 12% increase (164 to 184 lb [73.8 to 82.8 kg]) since 1961 in the NHANES population controls. Body mass index changed in parallel with body weight and exceeded 35 kg/m2 in more than 30% of contemporary NESCAC offensive linemen. Among skill players in the NESCAC group, time-related changes in body size characteristics generally paralleled those in the NHANES controls. Conclusions:  High body weight and body mass indices were evident in offensive linemen, even among those in Division III football programs with no athletic

  8. Adenomatous-Dominant Benign Prostatic Hyperplasia (AdBPH) as a Predictor for Clinical Success Following Prostate Artery Embolization: An Age-Matched Case–Control Study

    International Nuclear Information System (INIS)

    Little, M. W.; Boardman, P.; Macdonald, A. C.; Taylor, N.; Macpherson, R.; Crew, J.; Tapping, C. R.

    2017-01-01

    PurposeTo investigate the clinical impact of performing prostate artery embolization (PAE) on patients with adenomatous-dominant benign prostatic hyperplasia (AdBPH).Materials and MethodsTwelve patients from the ongoing proSTatic aRtery EmbolizAtion for the treatMent of benign prostatic hyperplasia (STREAM) trial were identified as having AdBPH; defined as two or more adenomas within the central gland of ≥1 cm diameter on multi-parametric MRI (MP-MRI). These patients were age-matched with patients from the STREAM cohort, without AdBPH. Patients were followed up with repeat MP-MRI at 3 months and 1 year. International prostate symptom score (IPSS), international index for erectile function (IIEF), and quality of life assessment from the IPSS and EQ-5D-5S questionnaires were recorded pre-PAE and at 6 weeks, 3 months, and 1 year.ResultsThe mean age of patients was 68 (61–76). All patients had PAE as a day-case procedure. The technical success in the cohort was 23/24 (96%). There was a significant reduction in prostate volume following embolization with a median reduction of 34% (30–55) in the AdBPH group, compared to a mean volume reduction of 22% (9–44) in the non-AdBPH group (p = 0.04). There was a significant reduction in IPSS in the AdBPH group following PAE when compared with the control group [AdBPH median IPSS 8 (3–15) vs. non-AdBPH median IPSS 13 (8–18), p = 0.01]. IPSS QOL scores significantly improved in the AdBPH group (p = 0.007). There was no deterioration in sexual function in either group post-PAE.ConclusionsThis is the first time that AdBPH has been identified as being a predictor of clinical success following PAE.

  9. Adenomatous-Dominant Benign Prostatic Hyperplasia (AdBPH) as a Predictor for Clinical Success Following Prostate Artery Embolization: An Age-Matched Case–Control Study

    Energy Technology Data Exchange (ETDEWEB)

    Little, M. W., E-mail: m.little@doctors.org.uk; Boardman, P.; Macdonald, A. C.; Taylor, N.; Macpherson, R. [Oxford University Hospitals NHS Foundation Trust, Department of Radiology, Churchill Hospital (United Kingdom); Crew, J. [Oxford University Hospitals NHS Foundation Trust, Department of Urology, Churchill Hospital (United Kingdom); Tapping, C. R., E-mail: crtapping@doctors.org.uk [Oxford University Hospitals NHS Foundation Trust, Department of Radiology, Churchill Hospital (United Kingdom)

    2017-05-15

    PurposeTo investigate the clinical impact of performing prostate artery embolization (PAE) on patients with adenomatous-dominant benign prostatic hyperplasia (AdBPH).Materials and MethodsTwelve patients from the ongoing proSTatic aRtery EmbolizAtion for the treatMent of benign prostatic hyperplasia (STREAM) trial were identified as having AdBPH; defined as two or more adenomas within the central gland of ≥1 cm diameter on multi-parametric MRI (MP-MRI). These patients were age-matched with patients from the STREAM cohort, without AdBPH. Patients were followed up with repeat MP-MRI at 3 months and 1 year. International prostate symptom score (IPSS), international index for erectile function (IIEF), and quality of life assessment from the IPSS and EQ-5D-5S questionnaires were recorded pre-PAE and at 6 weeks, 3 months, and 1 year.ResultsThe mean age of patients was 68 (61–76). All patients had PAE as a day-case procedure. The technical success in the cohort was 23/24 (96%). There was a significant reduction in prostate volume following embolization with a median reduction of 34% (30–55) in the AdBPH group, compared to a mean volume reduction of 22% (9–44) in the non-AdBPH group (p = 0.04). There was a significant reduction in IPSS in the AdBPH group following PAE when compared with the control group [AdBPH median IPSS 8 (3–15) vs. non-AdBPH median IPSS 13 (8–18), p = 0.01]. IPSS QOL scores significantly improved in the AdBPH group (p = 0.007). There was no deterioration in sexual function in either group post-PAE.ConclusionsThis is the first time that AdBPH has been identified as being a predictor of clinical success following PAE.

  10. Mother-Child Play: Children with Down Syndrome and Typical Development

    Science.gov (United States)

    Venuti, P.; de Falco, S.; Esposito, G.; Bornstein, Marc H.

    2009-01-01

    Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with…

  11. Training understanding of reversible sentences: a study comparing language-impaired children with age-matched and grammar-matched controls.

    Science.gov (United States)

    Hsu, Hsinjen Julie; Bishop, Dorothy V M

    2014-01-01

    Introduction. Many children with specific language impairment (SLI) have problems with language comprehension, and little is known about how to remediate these. We focused here on errors in interpreting sentences such as "the ball is above the cup", where the spatial configuration depends on word order. We asked whether comprehension of such short reversible sentences could be improved by computerized training, and whether learning by children with SLI resembled that of younger, typically-developing children. Methods. We trained 28 children with SLI aged 6-11 years, 28 typically-developing children aged from 4 to 7 years who were matched to the SLI group for raw scores on a test of receptive grammar, and 20 typically-developing children who were matched to the SLI group on chronological age. A further 20 children with SLI were given pre- and post-test assessments, but did not undergo training. Those in the trained groups were given training on four days using a computer game adopting an errorless learning procedure, during which they had to select pictures to correspond to spoken sentences such as "the cup is above the drum" or "the bird is below the hat". Half the trained children heard sentences using above/below and the other half heard sentences using before/after (with a spatial interpretation). A total of 96 sentences was presented over four sessions. Half the sentences were unique, whereas the remainder consisted of 12 repetitions of each of four sentences that became increasingly familiar as training proceeded. Results. Age-matched control children performed near ceiling (≥ 90% correct) in the first session and were excluded from the analysis. Around half the trained SLI children also performed this well. Training effects were examined in 15 SLI and 16 grammar-matched children who scored less than 90% correct on the initial training session. Overall, children's scores improved with training. Memory span was a significant predictor of improvement, even

  12. Training understanding of reversible sentences: a study comparing language-impaired children with age-matched and grammar-matched controls

    Directory of Open Access Journals (Sweden)

    Hsinjen Julie Hsu

    2014-11-01

    Full Text Available Introduction. Many children with specific language impairment (SLI have problems with language comprehension, and little is known about how to remediate these. We focused here on errors in interpreting sentences such as “the ball is above the cup”, where the spatial configuration depends on word order. We asked whether comprehension of such short reversible sentences could be improved by computerized training, and whether learning by children with SLI resembled that of younger, typically-developing children.Methods. We trained 28 children with SLI aged 6–11 years, 28 typically-developing children aged from 4 to 7 years who were matched to the SLI group for raw scores on a test of receptive grammar, and 20 typically-developing children who were matched to the SLI group on chronological age. A further 20 children with SLI were given pre- and post-test assessments, but did not undergo training. Those in the trained groups were given training on four days using a computer game adopting an errorless learning procedure, during which they had to select pictures to correspond to spoken sentences such as “the cup is above the drum” or “the bird is below the hat”. Half the trained children heard sentences using above/below and the other half heard sentences using before/after (with a spatial interpretation. A total of 96 sentences was presented over four sessions. Half the sentences were unique, whereas the remainder consisted of 12 repetitions of each of four sentences that became increasingly familiar as training proceeded.Results. Age-matched control children performed near ceiling (≥ 90% correct in the first session and were excluded from the analysis. Around half the trained SLI children also performed this well. Training effects were examined in 15 SLI and 16 grammar-matched children who scored less than 90% correct on the initial training session. Overall, children’s scores improved with training. Memory span was a significant

  13. Obstructive sleep apnea syndrome and erectile dysfunction: does ...

    African Journals Online (AJOL)

    Objectives: The aim of this age-matched, controlled, prospective clinical study was to investigate frequency and degree of erectile dysfunction (ED) in patients with obstructive sleep apnea syndrome (OSAS) and to evaluate the results of only continuous positive airway pressure (CPAP) therapy on ED in patients with OSAS.

  14. Social Cognition in Adolescent Girls with Fragile X Syndrome

    Science.gov (United States)

    Turkstra, Lyn S.; Abbeduto, Leonard; Meulenbroek, Peter

    2014-01-01

    This study aimed to characterize social cognition, executive functions (EFs), and everyday social functioning in adolescent girls with fragile X syndrome, and identify relationships among these variables. Participants were 20 girls with FXS and 20 age-matched typically developing peers. Results showed significant between-groups differences in…

  15. Go/NoGo performance in boys with Tourette syndrome

    DEFF Research Database (Denmark)

    Eichele, Heike; Eichele, Tom; Hammar, Asa

    2010-01-01

    This study compared performance and performance monitoring in 19 boys with Tourette syndrome (TS) (12.64 years, +/- 2.05) and 19 age-matched controls (13.16 years, +/- 2.29) using a Go/NoGo task. The results indicated similar performance accuracy in the TS group and the control group. TS particip...

  16. Personal Space Regulation in Williams Syndrome: The Effect of Familiarity

    Science.gov (United States)

    Lough, Emma; Flynn, Emma; Riby, Deborah M.

    2016-01-01

    Personal space refers to a protective barrier that we strive to maintain around our body. We examined personal space regulation in young people with Williams syndrome (WS) and their typically developing, chronological age-matched peers using a parent report questionnaire and a stop-distance paradigm. Individuals with WS were reported by their…

  17. Reading and Phonological Skills in Boys with Fragile X Syndrome

    Science.gov (United States)

    Klusek, Jessica; Hunt, Anna W.; Mirrett, Penny L.; Hatton, Deborah D.; Hooper, Stephen R.; Roberts, Jane E.; Bailey, Donald B.

    2015-01-01

    Although reading skills are critical for the success of individuals with intellectual disabilities, literacy has received little attention in fragile X syndrome (FXS). This study examined the literacy profile of FXS. Boys with FXS (n = 51; mean age 10.2 years) and mental age-matched boys with typical development (n = 35) participated in…

  18. Parenting Young Children with and without Fragile X Syndrome

    Science.gov (United States)

    Sterling, Audra; Barnum, Leah; Skinner, Debra; Warren, Steven F.; Fleming, Kandace

    2012-01-01

    The purpose of this study was to examine maternal parenting styles across age-matched siblings using a within-family design, in which one child has Fragile X syndrome. Thirteen families participated; children were aged 16 to 71 months. Mothers completed several videotaped activities with each child separately as well as an interview. Mothers used…

  19. A comparison of substantia nigra T1 hyperintensity in Parkinson's disease dementia, Alzheimer's disease and age-matched controls: Volumetric analysis of neuromelanin imaging

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Won Jin; Park, Ju Yeon; Yun, Won Sung; Jeon, Ji Yeong; Moon, Yeon Sil; Kim, Hee Jin; Han, Seol Heui [Konkuk University School of Medicine, Seoul (Korea, Republic of); Kwak, Ki Chang; Lee, Jong Min [Dept. of Biomedical Engineering, Hanyang University, Seoul (Korea, Republic of)

    2016-09-15

    Neuromelanin loss of substantia nigra (SN) can be visualized as a T1 signal reduction on T1-weighted high-resolution imaging. We investigated whether volumetric analysis of T1 hyperintensity for SN could be used to differentiate between Parkinson's disease dementia (PDD), Alzheimer's disease (AD) and age-matched controls. This retrospective study enrolled 10 patients with PDD, 18 patients with AD, and 13 age-matched healthy elderly controls. MR imaging was performed at 3 tesla. To measure the T1 hyperintense area of SN, we obtained an axial thin section high-resolution T1-weighted fast spin echo sequence. The volumes of interest for the T1 hyperintense SN were drawn onto heavily T1-weighted FSE sequences through midbrain level, using the MIPAV software. The measurement differences were tested using the Kruskal-Wallis test followed by a post hoc comparison. A comparison of the three groups showed significant differences in terms of volume of T1 hyperintensity (p < 0.001, Bonferroni corrected). The volume of T1 hyperintensity was significantly lower in PDD than in AD and normal controls (p < 0.005, Bonferroni corrected). However, the volume of T1 hyperintensity was not different between AD and normal controls (p = 0.136, Bonferroni corrected). The volumetric measurement of the T1 hyperintensity of SN can be an imaging marker for evaluating neuromelanin loss in neurodegenerative diseases and a differential in PDD and AD cases.

  20. Patient-reported lower urinary tract symptoms, urinary incontinence, and quality of life after external beam radiotherapy for localized prostate cancer - 15 years' follow-up. A comparison with age-matched controls

    International Nuclear Information System (INIS)

    Fransson, Per

    2008-01-01

    Background. To prospectively examine the urinary toxicity and quality of life (QOL) in patients 15 years after external beam radiotherapy (EBRT) for localized prostate cancer (LPC) and compare the outcomes with results for age-matched controls. Material and methods. Urinary symptoms were assessed using the symptom-specific Prostate Cancer Symptom Scale (PCSS) questionnaire, and QOL was assessed with the European Organization for Research and Treatment of Cancer (EORTC)'s Quality of Life Questionnaire (QLQ-C30). Both questionnaires were sent to the surviving 41 patients (25%) and the PCSS questionnaire was sent to 69 age-matched controls for comparison. Results. The response rate was 71% in the patient group and 59% in the control group. Two patients and four controls were excluded due to other cancer diagnoses, resulting in a total of 27 patients and 37 controls for inclusion in the analyses. The mean age in both groups was 78 years. In the patient group, incontinence had increased between the 8-year (mean=0.6) and the 15-year follow-up (mean=2.1; p=0.038). No other differences in urinary problems were seen between these two follow-ups. Increased incontinence, stress incontinence, and pain while urinating were reported by the patients in comparison with the controls at 15 years. Role function was worse in the patient group (mean=67.3) compared with the controls (mean=82.4; p=0.046). The patients also reported more appetite loss, diarrhea, nausea/vomiting, and pain than the controls. Conclusion. EBRT for LPC has divergent effects on urinary symptoms and QOL in comparison with age-matched controls. In our patient population, urinary incontinence increased between 8 and 15 years of follow-up. Otherwise, no differences in urinary symptoms were seen between 4 and 15 years. Incontinence, stress incontinence, and pain while urinating were increased after EBRT in comparison with the controls. Conventional EBRT did not result in a major deterioration in QOL 15 years after

  1. Patient-reported lower urinary tract symptoms, urinary incontinence, and quality of life after external beam radiotherapy for localized prostate cancer - 15 years' follow-up. A comparison with age-matched controls

    Energy Technology Data Exchange (ETDEWEB)

    Fransson, Per (Dept. of Radiation Sciences, Oncology, Umeaa Univ., Umeaa (Sweden))

    2008-06-15

    Background. To prospectively examine the urinary toxicity and quality of life (QOL) in patients 15 years after external beam radiotherapy (EBRT) for localized prostate cancer (LPC) and compare the outcomes with results for age-matched controls. Material and methods. Urinary symptoms were assessed using the symptom-specific Prostate Cancer Symptom Scale (PCSS) questionnaire, and QOL was assessed with the European Organization for Research and Treatment of Cancer (EORTC)'s Quality of Life Questionnaire (QLQ-C30). Both questionnaires were sent to the surviving 41 patients (25%) and the PCSS questionnaire was sent to 69 age-matched controls for comparison. Results. The response rate was 71% in the patient group and 59% in the control group. Two patients and four controls were excluded due to other cancer diagnoses, resulting in a total of 27 patients and 37 controls for inclusion in the analyses. The mean age in both groups was 78 years. In the patient group, incontinence had increased between the 8-year (mean=0.6) and the 15-year follow-up (mean=2.1; p=0.038). No other differences in urinary problems were seen between these two follow-ups. Increased incontinence, stress incontinence, and pain while urinating were reported by the patients in comparison with the controls at 15 years. Role function was worse in the patient group (mean=67.3) compared with the controls (mean=82.4; p=0.046). The patients also reported more appetite loss, diarrhea, nausea/vomiting, and pain than the controls. Conclusion. EBRT for LPC has divergent effects on urinary symptoms and QOL in comparison with age-matched controls. In our patient population, urinary incontinence increased between 8 and 15 years of follow-up. Otherwise, no differences in urinary symptoms were seen between 4 and 15 years. Incontinence, stress incontinence, and pain while urinating were increased after EBRT in comparison with the controls. Conventional EBRT did not result in a major deterioration in QOL 15 years

  2. Screening for autoantibodies in patients with primary fibromyalgia syndrome and a matched control group

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Høyer-Madsen, M; Danneskiold-Samsøe, B

    1990-01-01

    Primary fibromyalgia syndrome (PFS) is a non-articular rheumatic condition characterized by chronic muscular pain. We have performed screening for autoantibodies in 20 women with PFS and in 19 age-matched healthy women. Fifty-five percent of the PFS patients had anti-smooth muscle antibodies and 40...

  3. 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...

  4. Implicit and Explicit Olfactory Memory in People with and without Down Syndrome

    Science.gov (United States)

    Johns, Adam; Homewood, Judi; Stevenson, Richard; Taylor, Alan

    2012-01-01

    This study examined differences in implicit and explicit memory performance between people with Down syndrome (DS), their siblings, children matched on mental age, and university undergraduates, using olfactory stimuli. The DS and mental-age matched participants were also compared on two tasks of executive function. The data revealed implicit…

  5. Psychological and somatic predictors of perceived and measured ocular dryness of patients with primary Sjogren's syndrome

    NARCIS (Netherlands)

    Vriezekolk, JE; Geenen, R; Hartkamp, A; Godaert, GLR; Bootsma, H; Kruize, AA; Bijlsma, JWJ; Derksen, RHWM

    2005-01-01

    Objective. To test if age, disease activity, pain, fatigue, and depression are associated with subjective and objective ocular dryness of patients with primary Sjogren's syndrome (pSS). Methods. Sixty female patients with pSS and 60 age matched healthy controls filled out visual analog scale (VAS)

  6. Adenosine triphosphate and diphosphoglycerate levels in red blood cells from patients with Down's syndrome.

    Science.gov (United States)

    Knull, H R; Bronstein, W W; Porter, P J

    1978-09-15

    The levels of ATP and ATP plus DPG were significantly elevated in erythrocytes from Down's syndrome patients when compared to erythrocytes from age matched controls. The hemoglobin content and hematocrit values were significantly reduced. The resultant tendency towards anemia probably explains the elevation in metabolite levels.

  7. Superior Nonverbal Intelligence in Children with High-Functioning Autism or Asperger's Syndrome

    Science.gov (United States)

    Chen, Fei; Planche, Pascale; Lemonnier, Eric

    2010-01-01

    Some early studies showed discordance in cognitive strengths and weaknesses in individuals with high-functioning autism (HFA) or Asperger's syndrome (AS). The present study administered the French version of Colored Raven's Progressive Matrices in 14 children with HFA/AS and in 26 chronological age matched peers with typical development. We found…

  8. The Use of Cohesive Markers in Narratives by Children with Williams Syndrome

    Science.gov (United States)

    Jones, Nancy Elizabeth

    2013-01-01

    This study examined how children and adolescents with Williams syndrome (WS; ages 8 years, 0 months [8;0]-14;5) used referential devices (determiners and pronouns), tense, and connectives to create cohesion in oral narratives based on a storybook compared to typically developing mentally and chronologically age-matched children. WS children used…

  9. Emotion Recognition and Visual-Scan Paths in Fragile X Syndrome

    Science.gov (United States)

    Shaw, Tracey A.; Porter, Melanie A.

    2013-01-01

    This study investigated emotion recognition abilities and visual scanning of emotional faces in 16 Fragile X syndrome (FXS) individuals compared to 16 chronological-age and 16 mental-age matched controls. The relationships between emotion recognition, visual scan-paths and symptoms of social anxiety, schizotypy and autism were also explored.…

  10. Lymphocyte concanavalin A capping: a similarity between Down's syndrome and early onset primary degenerative dementia.

    OpenAIRE

    Duijndam-van den Berge, M; Goekoop, J G

    1986-01-01

    Lymphocyte capping with concanavalin A was studied in adult patients with Down's syndrome and aged patients with primary degenerative dementia. In both disorders a decreased capping was found as compared with age-matched and clinically relevant control groups. Colchicine had a strong enhancing effect on capping in Down's syndrome. In primary degenerative dementia the enhancing effect of colchicine was restricted to a subgroup of patients with onset of the dementing illness before the age of 8...

  11. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

    OpenAIRE

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

    2011-01-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of m...

  12. Go/NoGo performance in boys with Tourette syndrome

    DEFF Research Database (Denmark)

    Eichele, Heike; Eichele, Tom; Hammar, Asa

    2010-01-01

    This study compared performance and performance monitoring in 19 boys with Tourette syndrome (TS) (12.64 years, +/- 2.05) and 19 age-matched controls (13.16 years, +/- 2.29) using a Go/NoGo task. The results indicated similar performance accuracy in the TS group and the control group. TS particip......This study compared performance and performance monitoring in 19 boys with Tourette syndrome (TS) (12.64 years, +/- 2.05) and 19 age-matched controls (13.16 years, +/- 2.29) using a Go/NoGo task. The results indicated similar performance accuracy in the TS group and the control group. TS...

  13. Language and ToM Development in Autism versus Asperger Syndrome: Contrasting Influences of Syntactic versus Lexical/Semantic Maturity

    Science.gov (United States)

    Paynter, Jessica; Peterson, Candida

    2010-01-01

    Theory of mind (ToM) development by a sample of 63 children aged 5-12 years (24 with Asperger syndrome, 19 with high-functioning autism, and 20 age-matched typical developers) was assessed with a five-task false-belief battery in relation to both lexical (vocabulary) and syntactic (grammar) language skills. Contrary to some previous research, no…

  14. Social Attribution in Children with High Functioning Autism and Asperger Syndrome: An Exploratory Study in the Chinese Setting

    Science.gov (United States)

    Chan, Raymond C. K.; Hu, Zhou-yi; Cui, Ji-fang; Wang, Ya; McAlonan, Grainne M.

    2011-01-01

    The present study aimed to examine social attribution in children with high-functioning autism (HFA) and Asperger's syndrome (AS). A sample of 20 boys (9 with HFA and 11 with AS) and 20 age-matched controls were recruited for this study. All participated in two tasks measuring social attribution ability, the conventional Social Attribution Task…

  15. Metabolic syndrome and aerobic fitness in patients with first-episode schizophrenia, including a 1-year follow-up

    DEFF Research Database (Denmark)

    Nyboe, L.; Vestergaard, C. H.; Moeller, M. K.

    2015-01-01

    OBJECTIVE: To compare the prevalence of metabolic syndrome (MetS) and metabolic abnormalities in patients with first-episode schizophrenia (FES) with sex- and age-matched healthy controls; to investigate changes in MetS during 1year of treatment; and to investigate predictors of MetS. METHODS: Pa...

  16. A comparison of cognitive functions in non-hypoxemic chronic obstructive pulmonary disease (COPD patients and age-matched healthy volunteers using mini-mental state examination questionnaire and event-related potential, P300 analysis

    Directory of Open Access Journals (Sweden)

    Prem Parkash Gupta

    2013-01-01

    Full Text Available Objective: To assess sub-clinical cognitive dysfunctions in stable chronic obstructive pulmonary disease (COPD patients having no hypoxemia vs. age-matched healthy volunteers using (i an electrophysiological test: Auditory event related potential, P300 test and (ii a questionnaire tool: Mini-mental state examination (MMSE questionnaire. Materials and Methods: Eighty male subjects were included: 40 stable COPD patients (smoking history >20 pack years and 40 healthy volunteers (HVs. Age, duration of illness, smoking pack years, and spirometric indices were assessed. MMSE scores were evaluated in these groups. Latency of P300 wave and amplitude of P300 wave were studied in both groups to detect P300 abnormalities in COPD group. Correlations of P300 abnormalities with patient characteristic parameters and MMSE scores were assessed. In addition, individual COPD patients having significant cognitive dysfunctions beyond cut-off value of 99 th percentile of HVs were analyzed. Results: We observed significantly prolonged P300 latency ( P 0.05 for all. Conclusions: Our study explores cognitive dysfunctions in stable COPD patients with no hypoxemia. This study highlights the relative importance of using MMSE and P300. Cognitive dysfunctions were detected both by MMSE and P300; however, MMSE abnormalities were more frequent compared to P300 abnormalities (27/40 vs. 10/40 in COPD patients.

  17. Serum amyloid beta peptides in patients with dementia and age-matched non-demented controls as detected by surface-enhanced laser desorption ionisation-time of flight mass spectrometry (SELDI-TOF MS).

    Science.gov (United States)

    Frankfort, Suzanne V; van Campen, Jos P C M; Tulner, Linda R; Beijnen, Jos H

    2008-09-01

    By using surface enhanced laser desorption/ionisation- time of flight mass spectrometry (SELDI-TOF MS) an amyloid beta (Abeta) profile was shown in cerebrospinal fluid (CSF) of patients with dementia. To investigate the Abeta-profile in serum with SELDI-TOF MS, to evaluate if this profile resembles CSF profiles and to investigate the correlation between intensity of Abeta-peptide-peaks in serum and clinical, demographical and genetic variables. Duplicate profiling of Abeta by an SELDI-TOF MS immunocapture assay was performed in 106 patients, suffering from Alzheimer's Disease or Vascular Dementia and age-matched non-demented control patients. Linear regression analyses were performed to investigate the intensities of four selected Abeta peaks as dependent variables in relation to the independent clinical, demographic or genetic variables. Abeta37, Abeta38 and Abeta40 were found among additional unidentified Abeta peptides, with the most pronounced Abeta peak at a molecular mass of 7752. This profile partly resembled the CSF profile. The clinical diagnosis was not a predictive independent variable, however ABCB1 genotypes C1236T, G2677T/A, age and creatinine level showed to be related to Abeta peak intensities in multivariate analyses. We found an Abeta profile in serum that partly resembled the CSF profile in demented patients. Age, creatinine levels, presence of the APOE epsilon4 allele and ABCB1 genotypes (C1236T and G2677T/A) were correlated with the Abeta serum profile. The role of P-gp as an Abeta transporter and the role of ABCB1 genotypes deserves further research. The investigated serum Abeta profile is probably not useful in the diagnosis of dementia.

  18. 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 ...

  19. A meta-analysis of math performance in Turner syndrome.

    Science.gov (United States)

    Baker, Joseph M; Reiss, Allan L

    2016-02-01

    Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. © 2015 Mac Keith Press.

  20. 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. ...

  1. Serum dehydroepiandrosterone sulphate levels and laboratory and clinical parameters indicating expression of disease are not associated with fatigue, well-being and functioning in patients with primary Sjogren's syndrome

    NARCIS (Netherlands)

    Hartkamp, A.; Geenen, R.; Kruize, A. A.; Bossema, E. R.; Godaert, G. L. R.; Bootsma, H.; Bijlsma, J. W. J.; Derksen, R. H. W. M.

    2011-01-01

    Objective. The aim of this study was to compare serum dehydroepiandrosterone sulphate (DHEAS) levels and clinical and laboratory parameters reflecting expression of disease between female patients with primary Sjogren's syndrome (pSS) and age-matched healthy women and to examine in pSS patients the

  2. 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 ...

  3. 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 -- ...

  4. Eyewitness recall and suggestibility in individuals with Down syndrome.

    Science.gov (United States)

    Collins, D; Henry, L

    2016-12-01

    Many criminal justice professionals perceive the eyewitness skills of individuals with intellectual disabilities to be weaker than those of typically developing (TD) individuals. Down syndrome (DS) is one of the most common genetic causes of intellectual disabilities, yet there is no research addressing eyewitness skills in this population. This study examined the eyewitness recall and suggestibility of young people with DS. Young people with DS and mental age-matched TD children viewed a video of a non-violent petty crime and were subsequently asked to freely recall the event before being asked general and specific questions incorporating both misleading and non-leading prompts. Compared with mental age-matched TD individuals, young people with DS produced as much information, were just as accurate and were no more suggestible. The eyewitness memory skills of young people with DS are comparable to those of mental age-matched TD children. The implications of these findings for the forensic context and eyewitness memory are discussed. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  5. 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 ...

  6. 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), ...

  7. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    OpenAIRE

    Vicari, Enzo; Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS ...

  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. Diagnosis of the syndrome of inappropriate secretion of antidiuretic hormone

    DEFF Research Database (Denmark)

    Holm, Ellen Astrid; Bie, Peter; Ottesen, Michael

    2009-01-01

    BACKGROUND: Hyponatremia is a frequent condition in elderly patients. In diagnostic workup, a 24-hour urine sample is used to measure urinary osmolality and urinary sodium concentration necessary to confirm the diagnosis of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH...... natriuretic peptides, renin, and aldosterone were measured in the supine and upright positions of patients and compared with nine healthy age-matched control patients. RESULTS: The patients had low plasma osmolality (median 266 mOsm/kg) and measurable levels of arginine vasopressin (median 1.8 pg/mL). Values...

  10. Isokinetic and isometric muscle strength combined with transcutaneous electrical muscle stimulation in primary fibromyalgia syndrome

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Wildschiødtz, Gordon; Danneskiold-Samsøe, B

    1991-01-01

    Twenty women with primary fibromyalgia syndrome and 20 age matched healthy women were investigated. The subjects performed maximum voluntary isokinetic contractions of the right quadriceps in an isokinetic dynamometer. Maximum voluntary isometric contractions of the right quadriceps were performed...... of superimposed twitches was 65% in the patient group and 15% in the control group (p = 0.003). Patients with primary fibromyalgia have a lower maximum voluntary muscle strength than expected. The increased presence of superimposed electrically elicited twitches during maximum voluntary contraction indicates...... submaximal force application in primary fibromyalgia syndrome....

  11. Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments.

    Science.gov (United States)

    Skakkebæk, Anne; Wallentin, Mikkel; Gravholt, Claus H

    2015-06-01

    To summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome. PubMed was searched for 'Klinefelter', 'Klinefelter's' and 'XXY' in titles and abstracts. Relevant studies were obtained and reviewed, as well as other articles selected by the authors. Klinefelter syndrome is the most common sex-chromosome disorder in humans, affecting one in 660 men. The key findings in Klinefelter syndrome are small testes, hypergonadotropic hypogonadism and cognitive impairment. Klinefelter syndrome scores significantly below education matched controls on a range of cognitive tests with verbal skills displaying the largest effects. Boys with Klinefelter syndrome are often in the need of speech therapy and many suffer from learning disability and may benefit from special education. New studies are elucidating aspects of cognitive functioning and suggesting that neuropsychological treatment may be of value. The socioeconomic status and educational level of Klinefelter syndrome is severely affected with many struggling to achieve any or only shorter education, resulting in low-income levels and early retirement. In addition, few become fathers and fewer live with a partner compared with controls. Medical treatment is mainly testosterone replacement therapy in order to alleviate acute and long-term consequences of hypogonadism, as well as, treating or preventing the frequent comorbidity. The neurocognitive phenotype of Klinefelter syndrome is being unraveled and the need for psychological and cognitive treatment in many cases is evident. The neurocognitive deficits no doubt influence the socioeconomic status of many Klinefelter syndrome patients, which is clearly inferior to age-matched controls.

  12. Balance impairment in individuals with Wolfram syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Paciorkowski, Alex R; Permutt, M Alan; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-07-01

    Wolfram syndrome (WFS), a rare neurodegenerative disorder, is characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities. Although previously unreported, we hypothesized that neurological complications may be detectable in relatively early stages of the disease. As the cerebellum and brainstem seem particularly vulnerable in WFS, we focused on balance functions critically dependent on these regions. The primary goal of this investigation was to compare balance in young individuals with WFS, in relatively early stages of the disease, to an age-matched cohort using a clinically applicable test. Balance was assessed via the mini-BESTest in 13 children, adolescents and young adults with WFS and 30 typically developing age-matched individuals. A significant difference was observed between groups in balance as well as in three of four subcomponents of the mini-BESTest and in two timed tasks related to balance. Mini-BESTest scores were correlated with age among typically developing individuals. In the WFS group, mini-BESTest scores were related to overall motor dysfunction, but not age. Impairments in balance in WFS may occur earlier in the disease process than previously recognized and appear to be related to overall neurological progression rather than chronological age. Recognizing balance impairments and understanding which balance systems contribute to balance deficits in those with WFS may allow for development of effective patient-centered treatment paradigms. Copyright © 2012 Elsevier B.V. All rights reserved.

  13. Noonan syndrome in diverse populations.

    Science.gov (United States)

    Kruszka, Paul; Porras, Antonio R; Addissie, Yonit A; Moresco, Angélica; Medrano, Sofia; Mok, Gary T K; Leung, Gordon K C; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N; Sokunbi, Ogochukwu J; Kalu, Nnenna; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Vincent, Lisa M; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M; Patil, Siddaramappa J; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Gallardo Jugo, Bertha E; Chávez Pastor, Miguel; Abarca-Barriga, Hugo H; Skinner, Steven A; Prijoles, Eloise J; Badoe, Eben; Gill, Ashleigh D; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S; Ferreira, Carlos R; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri-Costa, Antonio; Wonkam, Ambroise; Chung, Brian H Y; Stevenson, Roger E; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R; Obregon, María G; Linguraru, Marius G; Muenke, Maximilian

    2017-09-01

    Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world. © 2017 Wiley Periodicals, Inc.

  14. Marfan Syndrome

    Science.gov (United States)

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

  15. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  16. Williams syndrome

    Science.gov (United States)

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

  17. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  18. Tourette syndrome

    Science.gov (United States)

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

  19. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  20. Association of polycystic ovary syndrome with cardiovascular risk factors.

    Science.gov (United States)

    Akram, Tanzeela; Hasan, Shahid; Imran, Muhammad; Karim, Asima; Arslan, Muhammad

    2010-01-01

    Polycystic ovary syndrome (PCOS), also clinically known as Stein-Leventhal syndrome, is an endocrine disorder that affects 5-10% of women. To evaluate the risk factors for developing early onset of cardiovascular disease (CVD) in young patients with PCOS from our local population. Case-control study. Fifty women with PCOS selected by history and transvaginal ultrasounds and 30 age-matched healthy women (controls). The case subjects and controls were further divided into two age categories comprising of equal number of subjects, of 20-29 and 30-39 years of age. The subjects underwent a detailed medical history, general physical examination, systolic (SBP) and diastolic blood pressures (DBP). Fasting blood samples were analyzed for glucose, insulin, triacylglycerides (TAG), total cholesterol, high density lipoprotein-C (HDL-C), low density lipoprotein-C (LDL-C), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). Women with the PCOS had significantly higher mean arterial pressure (MAP), serum TAG, LDL-C, insulin, and LH levels when compared with the age-matched control subjects. No significant differences were observed between serum cholesterol, glucose, and FSH levels between cases and controls. However, no marked differences were observed in biochemical parameters between the two age groups of PCOS patients. Younger women with PCOS are equally at risk of developing CVD as older women.

  1. Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome

    DEFF Research Database (Denmark)

    Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M

    2001-01-01

    Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had...... the 45,X karyotype verified by karyotyping. We found no difference in the mean TRFL in the young age group (TS: 7011+/-521 vs C: 7285+/-917 bp, P = 0.3), or in the older age group (TS: 7357+/-573 vs C: 7221+/-621 bp, P = 0.6). In conclusion, our data suggest that Ullrich-Turner syndrome is not associated...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....

  2. Small carpal bone surface area, a characteristic of Turner's syndrome

    International Nuclear Information System (INIS)

    Cleveland, R.H.; Done, S.; Correia, J.A.; Crawford, J.D.; Kushner, D.C.; Herman, T.E.

    1985-01-01

    An abnormality which has received little attention but may be easily recognized on radiographs of the hand of patients with Turner's syndrome is described. Eleven of thirty-one patients (35.5%) with Turner's syndrome were shown on radiographs of the hand to have a visually detectable smallness of the bone surface area of the carpus when compared to the area of the second through fifth metacarpals. Values for the ''C/M'' ratio (the area of the carpals divided by the area of the second through fifth metacarpals) were calculated for films of 31 individuals with gonadal dysgenesis and compared with those from bone age-matched films of seventy-six individuals with normal development of the hand and wrist. A consistent difference with minimal overlap was documented. (orig./WL)

  3. Age-related changes in humoral and cell-mediated immunity in Down syndrome children living at home.

    Science.gov (United States)

    Lockitch, G; Singh, V K; Puterman, M L; Godolphin, W J; Sheps, S; Tingle, A J; Wong, F; Quigley, G

    1987-11-01

    Abnormalities of humoral and cell-mediated immunity have been described in Down syndrome but reported findings have been inconsistent. Confounding factors have included age, institutional versus home life, hepatitis B antigenemia, and zinc deficiency. To clarify this problem, we studied 64 children with Down syndrome (DS) compared with an age-matched control group. All children had always lived at home. All the DS children were negative for hepatitis B surface antigen. Serum zinc concentration in the DS group was on average 12 micrograms/dl lower than age-matched control children. They also had significantly lower levels of immunoglobulin M, total lymphocyte count, T and B lymphocytes, and T helper and suppressor cells. In vitro lymphocyte response to phytohemagglutinin and concanavalin A was significantly reduced at all ages in the DS group. Lymphocyte response to pokeweed mitogen increased with age in control children but decreased in the DS children. By 18 yr, the mean response for DS was 60000 cpm lower than controls. The DS group had significantly higher concentrations of immunoglobulins A and G than controls and the difference increased with age. Complement fractions C3 and C4 were also higher in the DS group at all ages. The number of HNK-1 positive cells was higher in the DS group than controls at all ages. When hepatitis and institutionalization are excluded as confounding factors, DS children still differ in both humoral and cell-mediated immunity from an age-matched control group.

  4. Macular structural characteristics in children with Down syndrome.

    Science.gov (United States)

    O'Brien, Scott; Wang, Jingyun; Smith, Heather A; Donaldson, Dana L; Haider, Kathryn M; Roberts, Gavin J; Sprunger, Derek T; Neely, Daniel E; Plager, David A

    2015-12-01

    This prospective study aimed to investigate macular structural characteristics in children with Down syndrome compared to those in healthy children. Two groups of children (aged 6-16 years) were enrolled: children with Down syndrome (Down syndrome group, N = 17) and age-matched healthy children who were full-term at birth (control group, N = 18). Eligible patients had visual acuity of 20/100 or better and gestational age at birth of ≥ 36 weeks. Fourier domain optical coherence tomography was used for imaging of the macular retinal structure, and retinal volume scans centered on the macula were obtained. Central subfield thickness (CST) and the thickness of the inner and outer retinal layer regions were analyzed using the instrument's segmentation software. The analysis of data is provided for the right eye only, since there was no significant difference between right and left eyes for either the Down syndrome or control groups. Children in the Down syndrome group generally had identifiable retinal structure. The CST for the full retina and inner and outer retinal layers were all significantly greater in the Down syndrome group than the control group (independent t test, all p syndrome had macular thickness outside the normal range. Visual acuity in the Down syndrome group was not directly correlated with increased CST (t = 1.288, r = 0.326, p = 0.202). On average, CST in the Down syndrome group was greater than that in the control group, suggesting abnormal macular development in children with Down syndrome.

  5. Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation.

    Science.gov (United States)

    Nikkhah, Dariush; Ponniah, Allan; Ruff, Cliff; Dunaway, David

    2013-11-01

    Treacher-Collins syndrome is a rare autosomal dominant condition of varying phenotypic expression. The surgical correction in this syndrome is difficult, and the approach varies between craniofacial departments worldwide. The authors aimed to design standardized tools for planning orbitozygomatic and mandibular reconstruction in Treacher-Collins syndrome using geometric morphometrics. The Great Ormond Street Hospital database was retrospectively identified for patients with Treacher-Collins syndrome. Thirteen children (aged 2 to 15 years) who had suitable preoperative three-dimensional computed tomographic head scans were included. Six Treacher-Collins syndrome three-dimensional computed tomographic head scans were quantitatively compared using a template of 96 anatomically defined landmarks to 26 age-matched normal dry skulls. Thin-plate spline videos illustrated the characteristic deformities of retromicrognathia and maxillary and orbitozygomatic hypoplasia in the Treacher-Collins syndrome population. Geometric morphometrics was used in the virtual reconstruction of the orbitozygomatic and mandibular region in Treacher-Collins syndrome patients. Intrarater and interrater reliability of the landmarks was acceptable and within a standard deviation of less than 1 mm on 97 percent and 100 percent of 10 repeated scans, respectively. Virtual normalization of the Treacher-Collins syndrome skull effectively describes characteristic skeletal deformities and provides a useful guide to surgical reconstruction. Size-matched stereolithographic templates derived from thin-plate spline warps can provide effective intraoperative templates for zygomatic and mandibular reconstruction in the Treacher-Collins syndrome patient. Diagnostic, V.

  6. Cushing's Syndrome

    Science.gov (United States)

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

  7. Usher Syndrome

    Science.gov (United States)

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

  8. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  9. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  10. Rett Syndrome

    Science.gov (United States)

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

  11. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  12. Turner Syndrome

    Science.gov (United States)

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

  13. Gardner's syndrome

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  14. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  15. Felty syndrome

    Science.gov (United States)

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

  16. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  17. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  18. 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 ...

  19. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  20. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

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

  1. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  2. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  3. Dry eye syndrome in aromatase inhibitor users.

    Science.gov (United States)

    Turaka, Kiran; Nottage, Jennifer M; Hammersmith, Kristin M; Nagra, Parveen K; Rapuano, Christopher J

    2013-04-01

    Aromatase inhibitors are frequently used as an adjuvant therapy in the treatment of breast cancer. We observed that several patients taking aromatase inhibitors presented with severe dry eye symptoms, and we investigated whether there is a relationship between aromatase inhibitors and dry eyes in these patients. Retrospective chart review. Forty-one women. A computerized search of health records was performed to identify patients using anastrazole, letrozole and exemestane seen by the Cornea Service from August 2008 to March 2011. The results were compared with age-matched controls. Ocular surface changes among aromatase inhibitors users. Of the 41 women, 39 were Caucasians. Thirty-nine patients had breast cancer (95%), one patient had ovarian cancer (2.5%) and one had an unknown primary cancer. Mean age was 68 ± 11.3 years (range 47-95). Most common presenting symptoms were blurred vision in 28 (68%) patients, irritation/foreign body sensation in 12 (29%) patients, redness in 9 (22%) patients, tearing in 6 (22%) patients and photosensitivity in 2 (5%) patients. Mean Schirmer's test measurement was 11 ± 5.8 mm (range 0.5-20 mm). Blepharitis was noted in 68 of 82 eyes (73%), decreased or poor tear function in 24 eyes (29%), conjunctival injection in 18 eyes (22%) and superficial punctate keratitis in 12 eyes (29%). Among an age-matched population (45-95 years), dry eye syndrome was found in only 9.5% of patients. Because the prevalence of ocular surface disease signs and symptoms appears to be higher in study group than control patients, aromatase inhibitors might be a contributing factor to the dry eye symptoms. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

  4. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

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

  5. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  6. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  7. Reye's Syndrome

    Science.gov (United States)

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

  8. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  9. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  10. Russell-Silver syndrome

    Science.gov (United States)

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

  11. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  12. Abnormal serum IgG subclass pattern in children with Down's syndrome.

    Science.gov (United States)

    Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

    1992-05-01

    Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome.

  13. Increased Risk of Metabolic Syndrome in Patients with Vitiligo.

    Science.gov (United States)

    Ataş, Hatice; Gönül, Müzeyyen

    2017-05-05

    Inflammatory and immune processes can be triggered in vitiligo due to a decreased number of melanocytes and their anti-inflammatory effects. Because of the systemic nature of vitiligo, metabolic abnormalities such as insulin resistance and lipid profile disturbances as well as skin involvement may be observed in vitiligo. To investigate the association between metabolic syndrome and vitiligo. Case-control study. The demographic, clinical and laboratory features in the subjects were compared according to presence of vitiligo and metabolic syndrome [patients (n=63) vs. gender-age matched controls (n=65) and metabolic syndrome positive (n=38) vs. negative (n=90)]. A logistic regression analysis was also used. We identified metabolic syndrome in 24 (38.1%) subjects with vitiligo and 14 (21.5%) subjects without vitiligo (p=0.04). Active vitiligo, segmental vitiligo, an increased duration of vitiligo and an increased percentage in the affected body surface area were determined to be independent predictors of metabolic syndrome [activity of vitiligo: p=0.012, OR (95% CI)=64.4 (2.5-1672); type of vitiligo: p=0.007, OR (95% CI)=215.1 (4.3-10725.8); duration of vitiligo: p=0.03, OR (95% CI)=1.4 (1.1-2.0); percentage of affected body surface area: p=0.07, OR (95% CI)=1.2 (0.98-1.5)]. The risk of developing metabolic syndrome is increased in patients with vitiligo. The poor clinical features of vitiligo, such as active, extended and segmental vitiligo with an increased duration of time, are independent predictors for developing metabolic syndrome.

  14. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  15. Maternal responsivity in mothers of young children with Down syndrome.

    Science.gov (United States)

    Sterling, Audra; Warren, Steven F

    2014-10-01

    The purpose of this study was to examine maternal responsivity and directive behaviors in mothers of children with Down syndrome (DS). Participants included 22 mothers with a young child with DS compared to 22 mothers of chronologically age-matched typically developing (TD) children using a cross-sectional design. The dyads participated in videotaped structured activities that were coded for responsive and directive behaviors. RESULTS indicated that the mothers of children with DS used a more facilitative style with the older children while these behaviors decreased with older children with TD; one directive behavior, request for behavioral comply, increased with the older children with DS. The mothers of children with DS adapted their parenting style to be facilitative of their children's linguistic development.

  16. Dysconnection of right parietal and frontal cortex in neglect syndrome

    DEFF Research Database (Denmark)

    Dietz, Martin; Nielsen, Jørgen Feldbæk; Roepstorff, Andreas

    2017-01-01

    A lesion to the right hemisphere of the brain often leads to perceptual neglect of the left side of the sensorium. The fact that lesions to different cortical regions lead to the same symptoms points to neglect as a dysconnection syndrome that may result from the dysconnection of a distributed...... network, rather than a disruption of computation in any particular brain region. To test this hypothesis, we used Bayesian analysis of effective connectivity based on electroencephalographic recordings in patients with left-sided neglect after a right-hemisphere lesion. While age-matched healthy controls...... connectivity in the left hemisphere when stimuli appeared on their right. Crucially, this parieto-frontal feedback connectivity was aggravated in patients with more severe symptoms. In contrast, patients and controls did not show differences in the local connectivity within regions. These findings suggest...

  17. Impaired olfactory function in patients with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Sezen Bozkurt Koseoglu

    2016-06-01

    Full Text Available Polycystic ovary syndrome (PCOS is an endocrine disorder which affects 6.6% of women of child-bearing age. Although olfactory dysfunction is frequent in the population and it negatively affects quality of life, neither physicians or patients consider this important. This case-control study included 30 patients diagnosed with PCOS, and 25 healthy age-matched controls. Sniffin' sticks tests (BurghartGmbH, Wedel, Germany were used to analyze olfactory functions, and the Beck Depression Inventory was used to evaluate depressive symptoms. The total odor score was significantly lower in the PCOS group compared to the control group (p<0.005. The Beck depression score was higher in the PCOS group (p<0.005. There was a negative correlation between the total odor score and the Beck Depression Score. Patients with PCOS have impaired olfactory function. This might be related to depressive disorders that are also observed in those patients.

  18. Burnout Syndrome

    OpenAIRE

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

    2013-01-01

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

  19. Tourette Syndrome

    Science.gov (United States)

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

  20. Fahr's Syndrome

    Science.gov (United States)

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

  1. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

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

  2. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  3. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

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

    2002-01-01

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

  4. Noonan syndrome

    OpenAIRE

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

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  5. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

    Science.gov (United States)

    Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

    2013-01-01

    QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (pTurner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  6. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

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

  7. Respiratory and cardiovascular responses to walking down a traffic-polluted road compared with walking in a traffic-free area in participants aged 60 years and older with chronic lung or heart disease and age-matched healthy controls: a randomised, crossover study.

    Science.gov (United States)

    Sinharay, Rudy; Gong, Jicheng; Barratt, Benjamin; Ohman-Strickland, Pamela; Ernst, Sabine; Kelly, Frank J; Zhang, Junfeng Jim; Collins, Peter; Cullinan, Paul; Chung, Kian Fan

    2018-01-27

    Long-term exposure to pollution can lead to an increase in the rate of decline of lung function, especially in older individuals and in those with chronic obstructive pulmonary disease (COPD), whereas shorter-term exposure at higher pollution levels has been implicated in causing excess deaths from ischaemic heart disease and exacerbations of COPD. We aimed to assess the effects on respiratory and cardiovascular responses of walking down a busy street with high levels of pollution compared with walking in a traffic-free area with lower pollution levels in older adults. In this randomised, crossover study, we recruited men and women aged 60 years and older with angiographically proven stable ischaemic heart disease or stage 2 Global initiative for Obstructive Lung Disease (GOLD) COPD who had been clinically stable for 6 months, and age-matched healthy volunteers. Individuals with ischaemic heart disease or COPD were recruited from existing databases or outpatient respiratory and cardiology clinics at the Royal Brompton & Harefield NHS Foundation Trust and age-matched healthy volunteers using advertising and existing databases. All participants had abstained from smoking for at least 12 months and medications were taken as recommended by participants' doctors during the study. Participants were randomly assigned by drawing numbered disks at random from a bag to do a 2 h walk either along a commercial street in London (Oxford Street) or in an urban park (Hyde Park). Baseline measurements of participants were taken before the walk in the hospital laboratory. During each walk session, black carbon, particulate matter (PM) concentrations, ultrafine particles, and nitrogen dioxide (NO 2 ) concentrations were measured. Between October, 2012, and June, 2014, we screened 135 participants, of whom 40 healthy volunteers, 40 individuals with COPD, and 39 with ischaemic heart disease were recruited. Concentrations of black carbon, NO 2 , PM 10 , PM 2.5 , and ultrafine particles

  8. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  9. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

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

  10. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  11. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.

    Directory of Open Access Journals (Sweden)

    Joel Frohlich

    Full Text Available Duplications of 15q11.2-q13.1 (Dup15q syndrome are highly penetrant for autism spectrum disorder (ASD. A distinct electrophysiological (EEG pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome.In the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11, age-and-IQ-matched children with ASD (n = 10 and age-matched typically developing (TD children (n = 9 and computed relative power in 6 frequency bands for 9 regions of interest (ROIs. Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27 across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions.In the first study, spontaneous beta1 (12-20 Hz and beta2 (20-30 Hz power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1-4 Hz was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1. In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome.Here, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome.

  12. Reye Syndrome

    Science.gov (United States)

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

  13. Alagille Syndrome

    Science.gov (United States)

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

  14. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  15. [Refeeding syndrome].

    Science.gov (United States)

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

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

  16. Cockayne syndrome

    DEFF Research Database (Denmark)

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

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  17. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  18. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  19. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  20. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  1. Levator Syndrome

    Science.gov (United States)

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

  2. Alport Syndrome

    Science.gov (United States)

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

  3. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  4. Potter syndrome

    Science.gov (United States)

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

  5. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  6. 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...

  7. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  8. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  9. Zellweger Syndrome

    Science.gov (United States)

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

  10. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  11. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  12. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  13. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction:?Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  14. 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...

  15. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

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

  16. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  17. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  18. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  19. Milk-alkali syndrome

    Science.gov (United States)

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

  20. Exogenous Cushing syndrome

    Science.gov (United States)

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

  1. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  2. 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.

  3. Peripheral Dopamine in Restless Legs Syndrome

    Directory of Open Access Journals (Sweden)

    Ulrike H. Mitchell

    2018-03-01

    Full Text Available Objective/BackgroundRestless Legs Syndrome (RLS is a dopamine-dependent disorder characterized by a strong urge to move. The objective of this study was to evalulate blood levels of dopamine and other catecholamines and blood D2-subtype dopamine receptors (D2Rs in RLS.Patients/MethodsDopamine levels in blood samples from age-matched unmedicated RLS subjects, medicated RLS subjects and Controls were evaluated with high performance liquid chromatography and dopamine D2R white blood cell (WBC expression levels were determined with fluorescence-activated cell sorting and immunocytochemistry.ResultsBlood plasma dopamine levels, but not norepinepherine or epinephrine levels, were significantly increased in medicated RLS subjects vs unmedicated RLS subjects and Controls. The percentage of lymphocytes and monocytes expressing D2Rs differed between Control, RLS medicated and RLS unmedicated subjects. Total D2R expression in lymphocytes, but not monocytes, differed between Control, RLS medicated and RLS unmedicated subjects. D2Rs in lymphocytes, but not monocytes, were sensitive to dopamine in Controls only.ConclusionDownregulation of WBCs D2Rs occurs in RLS. This downregulation is not reversed by medication, although commonly used RLS medications increase plasma dopamine levels. The insensitivity of monocytes to dopamine levels, but their downregulation in RLS, may reflect their utility as a biomarker for RLS and perhaps brain dopamine homeostasis.

  4. Defective G2 repair in Down syndrome

    International Nuclear Information System (INIS)

    Pincheira, J.; Rodriguez, M.; Bravo, M.; Navarrete, M.H.; Lopez-Saez, J.F.

    1994-01-01

    Lymphocytes from both Down syndrome (DS) patients and age-matched control donors have been investigated to identify a possible disturbance in chromosomal G2 repair. Analyses of caffeine treatments during G2 have shown that the frequency of chromosomal aberrations is higher in DS lymphocytes than in normal lymphocytes. Likewise, G2 duration is longer in DS cells than in normal cells. In both control and DS lymphocytes, caffeine treatments increase the frequencies of chromatid breakages and decrease the average of G2 duration. The reversal of the caffeine potentiation effect by adenosine and niacinamide is higher in DS cells than in normal cells. Furthermore, ATP content per cell in DS lymphocytes is one third of that estimated in normal lymphocytes. The increase of ATP level produced by adenosine or niacinamide generally correlates with the reversal of the caffeine effect on chromosome aberrations. Under the experimental conditions tested, a good negative exponential correlation between ATP level and chromosome aberrations has been detected in both normal and DS lymphocytes which were or were not X-irradiated. Finally, we postulate a decrease in G2 repair capability of DS lymphocytes caused by a low availability of ATP and/or some other factor correlating with it. (au)

  5. Metabolic syndrome in breast cancer survivors with high carbohydrate consumption: The first report in community setting.

    Science.gov (United States)

    Park, Boyoung; Kong, Sun-Young; Lee, Eun Kyung; Lee, Moo Hyun; Lee, Eun Sook

    2017-10-01

    This study was conducted to examine the prevalence of and lifestyle factors associated with the metabolic syndrome in breast cancer survivors and to compare those factors with controls without cancer in a community setting. This study included 584 female breast cancer survivors ≥3 years after the initial diagnosis and 2336 age-matched cancer-free female controls from 39 community health examination centers located in 14 urban areas in Korea. The prevalence of the metabolic syndrome is shown. Factors associated with the metabolic syndrome were analyzed as odds ratios (ORs) in cancer survivors and controls; differences between the two groups in the ORs of associated factors were evaluated by calculating p-heterogeneity values. The prevalence of metabolic syndrome in breast cancer survivors and age-matched controls were 26.8% and 26.9%, respectively. Higher percentage of caloric intake from carbohydrates was associated with increased metabolic syndrome only in the breast cancer survivors (OR for the highest vs. lowest quartile for survivors = 2.48 [95% CI = 1.20-5.14]; OR for controls = 1.11 [95% CI = 0.81-1.51]; P-heterogeneity = 0.046). Sweat-inducing exercise for ≥150 min/week was associated with a lower risk of metabolic syndrome only in controls (controls: OR = 0.72 [95% CI = 0.58-0.89]; survivors: OR = 0.88 [95% CI = 0.57-1.36]). Older age, higher body mass index, and a lower education level (≤12 years) was associated with an increased prevalence of metabolic syndrome in both groups. Our results suggest that, in regions with excess carbohydrate intake, the association of the metabolic syndrome with percentage of caloric intake from carbohydrate might be more prominent than exercise in breast cancer survivors, compared with general population. Copyright © 2016 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  6. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

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    Christian Trolle

    Full Text Available QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc over time and relate the findings to the Turner syndrome phenotype.Adult women with Turner syndrome (n = 88 were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%, and adjusted for influence of heart rate by Bazett's (bQTc and Hodges's formula (hQTc. The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms. Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms compared to controls (390.4 ± 17.8 ms was prolonged (p432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2 and one in a minor Long QT syndrome gene (KCNE2.There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women.NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  7. Menopause is an independent predictor of metabolic syndrome in Iranian women.

    Science.gov (United States)

    Eshtiaghi, Radina; Esteghamati, Alireza; Nakhjavani, Manouchehr

    2010-03-01

    Gender differences in prevalence and consequences of the metabolic syndrome as a strong predictor of cardiovascular disease (CVD), are challenging problems. Postmenopausal status may explain in part the cause of acceleration of CVD with aging. The purpose of this study was to investigate the relation of menopause and metabolic syndrome independent of aging among Iranian women. On the basis of consecutive recruitment, 940 women between 20 and 76 years old participated in the study. Anthropometric indices, fasting blood glucose, lipid profile were measured, Framingham risk score and homeostasis model assessment (HOMA-IR) were calculated for all participants. The metabolic syndrome (MetS) was defined according to the National Cholesterol Education Program Adult Treatment Panel III. We used IDF definition for metabolic syndrome modified by our recent local data as an alternative measurements. The overall prevalence of metabolic syndrome was 26.4%. Its prevalence was 53.5% in postmenopausal versus 18.3% in premenopausal women. On binary logistic regression analysis, HOMA index, body mass index, waist to hip ratio, family history of diabetes and hypertension had an independent and significant effect on metabolic syndrome. Age-adjusted odds ratio (OR) of postmenopausal status for metabolic syndrome was 2.85 (95%CI: 1.31-6.20) (Pmenopause had metabolic syndrome versus 24% in age-matched group and Framingham risk score was significantly higher than normal cases 5.4+/-4.9 versus 2.0+/-2.3 (PMenopausal status can be a predictor of metabolic syndrome independent of age in Iranian women. Menopause is a process closely related to insulin resistance and cardiovascular risk factors. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

  8. 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

  9. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

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

  10. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  11. Cardiometabolic risk in polycystic ovary syndrome: a comparison of different approaches to defining the metabolic syndrome.

    Science.gov (United States)

    Cussons, Andrea J; Watts, Gerald F; Burke, Valerie; Shaw, Jonathan E; Zimmet, Paul Z; Stuckey, Bronwyn G A

    2008-10-01

    Polycystic ovary syndrome (PCOS) is associated with insulin resistance and features in common with the metabolic syndrome (MetS)--factors shown to predict cardiovascular risk and type 2 diabetes. We investigated the prevalence and characteristics of the MetS in PCOS by three definitions-World Health Organization (WHO), National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP-III) and International Diabetes Federation (IDF)--and compared that with the background population. Cross-sectional study of 168 women with PCOS and 883 age-matched controls from the Australian Diabetes, Obesity and Lifestyle (AusDiab) study. Prevalence of the MetS in PCOS subjects was 33% by WHO, 37% by NCEP-ATP-III and 40% by IDF criteria, compared with 10% by NCEP-ATP-III and 13% by IDF in controls (P 30 kg/m(2)), and higher but not significantly so in overweight (BMI 25-30 kg/m(2)) women (P = 0.052). Dehydroepiandrosterone sulphate was associated with a lower risk of the MetS--Odds ratio 0.86 (95% confidence interval, 0.77-0.97, P = 0.011). An approximate 4-fold increase in the prevalence of the MetS in women with PCOS compared with the general population, consistent with the proposed major role of insulin and obesity in the syndrome, implies greater risk of cardiometabolic disease in women with PCOS. However, this estimate is likely to vary according to PCOS definition, ethnicity and different aetiological pathways to PCOS.

  12. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  13. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

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

  14. Usher Syndrome

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    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  15. Metabolic Syndrome

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    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  16. A Comparison of Dysautonomias Comorbid with Cyclic Vomiting Syndrome and with Migraine

    Directory of Open Access Journals (Sweden)

    Gisela Chelimsky

    2009-01-01

    Full Text Available Cyclic vomiting syndrome (CVS shares many features with migraine headache, including auras, photophobia, and antimigrainous treatment response being traditionally viewed as a migraine variant. Aims. To determine whether CVS is associated with the same disorders as migraine headache, and compare these associations to those in healthy control subjects. Methods. Cross-sectional study of patients utilizing the ODYSA instrument, evaluating the probability of 12 functional/autonomic diagnoses, CVS, migraine, orthostatic intolerance (OI, reflex syncope, interstitial cystitis, Raynaud's syndrome, complex regional pain syndrome (CRPS, irritable bowel syndrome, functional dyspepsia, functional abdominal pain, fibromyalgia, and chronic fatigue syndrome. Control subjects were age-matched gender-matched friends. Patients had to fulfill criteria for CVS or migraine, while control subjects could not. Results. 103 subjects were studied, 21 with CVS, 46 with migraine and 36 healthy controls. CVS and migraine did not differ in the relative frequencies of fibromyalgia, OI, syncope, and functional dyspepsia. However, CVS patients did demonstrate a significantly elevated frequency of CRPS. Conclusions. Although CVS and migraine clearly share many of the same comorbidities, they do differ in one important association, suggesting that they may not be identical in pathophysiology. Since OI is common in CVS, treatment strategies could also target this abnormality.

  17. Premature aging of cardiovascular/platelet function in polycystic ovarian syndrome.

    Science.gov (United States)

    Chan, Wai Ping A; Ngo, Doan T; Sverdlov, Aaron L; Rajendran, Sharmalar; Stafford, Irene; Heresztyn, Tamila; Chirkov, Yuliy Y; Horowitz, John D

    2013-07-01

    The objective of this study was to compare the impact of aging on nitric oxide (NO) modulation of platelet and vascular function in healthy women and women with polycystic ovary syndrome. A case-control study of women ages 18 to 60 years, comparing women with polycystic ovarian syndrome against age-matched healthy controls, was performed. A total of 242 women, of whom 109 had polycystic ovarian syndrome (based on Rotterdam criteria), participated in the study. Women who were pregnant or on clopidogrel were excluded from the study. Inhibition of platelet aggregation by nitric oxide (primary outcome measure), vascular endothelial function, plasma concentrations of N(G), N(G)-dimethyl-L-arginine (ADMA), endothelial progenitor cell count, and high-sensitivity C-reactive protein (markers of endothelial dysfunction and inflammation) were assessed. With increasing age in control women, there was progressive attenuation of platelet responses to NO, impairment of endothelial function, and elevation of ADMA levels (P ≤.001). Irrespective of age, women with polycystic ovarian syndrome exhibited greater impairment of all these parameters (all P polycystic ovarian syndrome, these changes are present from early adult life and may contribute to premature atherogenesis. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    Science.gov (United States)

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  19. 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.

  20. 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.

  1. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  2. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

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

  3. Rapunzel syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  4. Waardenburg syndrome

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    Tagra Sunita

    2006-01-01

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

  5. Olmsted syndrome

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    Kumar Pramod

    2008-01-01

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

  6. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

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

  7. Turner Syndrome

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    Ramachandran Sudarshan

    2012-08-01

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

  8. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

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

  9. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  10. Larsen syndrome

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    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  11. 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

  12. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

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

  13. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  14. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  15. Serum vascular endothelial growth factor B is elevated in women with polycystic ovary syndrome and can be decreased with metformin treatment.

    Science.gov (United States)

    Cheng, Feifei; Zhao, Lu; Wu, Yuanyuan; Huang, Tiantian; Yang, Gangyi; Zhang, Zhanyu; Wu, Yijia; Jia, Fang; Wu, Jinlin; Chen, Chen; Liu, Dongfang

    2016-03-01

    To determine serum vascular endothelial growth factor B (VEGF-B) levels in polycystic ovary syndrome, their association with insulin resistance and β-cell dysfunction, and the effect of metformin on serum VEGF-B levels. A cross-sectional, interventional study. We recruited 103 women with polycystic ovary syndrome and 96 age-matched healthy controls. Serum VEGF-B levels were determined in all participants, and 44 polycystic ovary syndrome patients randomly received metformin. We measured VEGF-B levels in healthy controls and women with polycystic ovary syndrome before and after metformin treatment. Women with polycystic ovary syndrome had higher serum VEGF-B levels, which decreased with metformin treatment. In the lean and overweight/obese groups, patients with polycystic ovary syndrome had higher plasma VEGF-B levels than did healthy controls (P polycystic ovary syndrome. Serum VEGF-B is significantly higher in women with polycystic ovary syndrome and is closely and positively related to insulin resistance. Metformin treatment reduces VEGF-B levels and ameliorates insulin resistance. © 2015 John Wiley & Sons Ltd.

  16. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  17. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  18. Sjogren syndrome

    NARCIS (Netherlands)

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

    2016-01-01

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

  19. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  20. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

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

  1. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  2. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  3. Kartagener's Syndrome.

    Science.gov (United States)

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

    2009-01-01

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

  4. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  5. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

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

  6. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  7. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  8. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

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

  9. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  10. Gitelman syndrome.

    NARCIS (Netherlands)

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

    2008-01-01

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

  11. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  12. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

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

  13. Sexual activity of women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)--preliminary study.

    Science.gov (United States)

    Beisert, Maria; Szymañska-Pytlińska, Marta; Kapczuk, Karina; Chodeckal, Aleksandra; Walczyk-Matyja, Katarzyna; Kędzia, Witold

    2015-09-01

    The aim of the study was to assess sexual activity of women with Mayer-Pokitansky-K0ster-Hauser syndrome (MRKHS) in relation to age-matched con trots. The hypotheses on differences betwedn them in regard to various types of sexual activity and its characteristics were verified. 31 patients with MRKHS and 31 healthy women were examined. Psychosexual biography by M. Beisert was used to gain information on autoerotic and dyadic behavior: Phi-coefficient and U Mann-Whitney test were performed. Women with the MRKHS started autoerotic be ha vior at a similar age (U=58, 00; ns), practiced masturbation with the same frequency (in adolescence--U=350,00; ns and adulthood--U=137.50; ns) and manifested a similar level of sexual arousal (U=326,50; ns) as the age-matched controls. They declared experiencing vaginal (Phi=0.507; psexual activity at a higher age than the controls (petting U=182,00; pSexual development of patients with the MRKHS and healthy women is partly similar Differences in dyadic sexual activity are not limited to vaginal intercourse thus are probably determined by biological conditions and their psychological implications.

  14. Neural control of blood flow during exercise in human metabolic syndrome.

    Science.gov (United States)

    Limberg, Jacqueline K; Morgan, Barbara J; Sebranek, Joshua J; Proctor, Lester T; Eldridge, Marlowe W; Schrage, William G

    2014-09-01

    α-Adrenergic-mediated vasoconstriction is greater during simulated exercise in animal models of metabolic syndrome (MetSyn) when compared with control animals. In an attempt to translate such findings to humans, we hypothesized that adults with MetSyn (n = 14, 35 ± 3 years old) would exhibit greater α-adrenergic responsiveness during exercise when compared with age-matched healthy control subjects (n = 16, 31 ± 3 years old). We measured muscle sympathetic nerve activity (MSNA; microneurography) and forearm blood flow (Doppler ultrasound) during dynamic forearm exercise (15% of maximal voluntary contraction). α-Adrenergic agonists (phenylephrine and clonidine) and an antagonist (phentolamine) were infused intra-arterially to assess α-adrenergic receptor responsiveness and restraint, respectively. Resting MSNA was ∼35% higher in adults with MetSyn (P exercise. Clonidine-mediated vasoconstriction was greater in adults with MetSyn (P  0.05). Interestingly, exercise-mediated vasodilatation was greater in MetSyn (P exercise blood flow during low-intensity hand-grip exercise when compared with age-matched healthy control subjects. These results suggest that adults with MetSyn exhibit compensatory vascular control mechanisms capable of preserving blood flow responses to exercise in the face of augmented sympathetic adrenergic activity. © 2014 The Authors. Experimental Physiology © 2014 The Physiological Society.

  15. Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

    Science.gov (United States)

    Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

    2012-11-01

    To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  16. Involvement of immunologic and biochemical mechanisms in the pathogenesis of Tourette's syndrome

    Science.gov (United States)

    Landau, Yuval Eliahu; Steinberg, Tamar; Richmand, Brian; Leckman, James Frederick; Apter, Alan

    2014-01-01

    Tourette's syndrome is a neurodevelopmental disorder clinically characterized by multiple motor and phonic tics. It is likely that a neurobiological susceptibility to the disorder is established during development by the interaction of genetic, biochemical, immunological, and environmental factors. This study sought to investigate the possible correlation of several immunological and biochemical markers with Tourette's syndrome. Children with Tourette's syndrome attending a tertiary pediatric medical center from May 2008 to April 2010, and healthy age-matched control subjects underwent a comprehensive biochemical and immunological work-up. Demographic data were abstracted from the medical records. Findings were compared between the groups and analyzed statistically. Sixty-eight children with Tourette's syndrome (58 males, 85.3%) and 36 healthy children (25 males, 69.4%) were recruited. Compared with the control group, the Tourette's syndrome group had significantly higher levels of ferritin (p = 0.01) and hemoglobin (p = 0.02), a lower level of zinc (p = 0.05), and a lower percentage of non-ceruloplasmin copper (p = 0.01). Analysis of the immunological markers revealed no significant between-group differences in IgA, IgM or IgG; however, IgE and IgG-4 levels were significantly higher in the Tourette's syndrome group (p = 0.04 and p = 0.02, respectively). Children with Tourette's syndrome have high levels of biochemical indices of oxidative stress and the quantitative immunoglobulins. These findings add to the still-limited knowledge on the pathogenesis of Tourette's syndrome and may have implications for the development of novel therapeutic modalities. PMID:22139323

  17. The monocyte counts to HDL cholesterol ratio in obese and lean patients with polycystic ovary syndrome.

    Science.gov (United States)

    Usta, Akin; Avci, Eyup; Bulbul, Cagla Bahar; Kadi, Hasan; Adali, Ertan

    2018-04-10

    Women with polycystic ovary syndrome are more likely to suffer from obesity, insulin resistance, and chronic low-grade inflammation. In fact, the excessive activation of monocytes exacerbates oxidative stress and inflammation. However, high-density lipoprotein cholesterol neutralizes the pro-inflammatory and pro-oxidant effects of monocytes. The aim of this study is to investigate whether monocyte counts to high-density lipoprotein cholesterol ratio can predict the inflammatory condition in patients with polycystic ovary syndrome. In this cross-sectional study, a total of 124 women (61 of them with polycystic ovary syndrome and 63 age-matched healthy volunteers) were included in the study population. Obese polycystic ovary syndrome patients (n = 30) with a body mass index of ≥25 kg/m 2 and lean polycystic ovary syndrome patients (n = 31) with a body mass index of polycystic ovary syndrome were significantly higher than in control subjects (p = 0.0018). Moreover, a regression analysis revealed that body mass index, the homeostasis model assessment of insulin resistance and the high sensitivity C-reactive protein levels were confounding factors that affected the monocyte counts to high density lipoprotein cholesterol values. Additionally, a univariate and multivariate logistic regression analysis demonstrated that the increased monocyte counts to high density lipoprotein cholesterol values were more sensitive than the other known risk factors (such as increased body mass index, homeostasis model assessment of insulin resistance and high sensitive C-reactive protein levels) in the prediction of the inflammation in patients with polycystic ovary syndrome. The present study demonstrated that the monocyte count to high density lipoprotein cholesterol may be a novel and useful predictor of the presence of polycystic ovary syndrome.

  18. Podocyte Depletion in Thin GBM and Alport Syndrome.

    Science.gov (United States)

    Wickman, Larysa; Hodgin, Jeffrey B; Wang, Su Q; Afshinnia, Farsad; Kershaw, David; Wiggins, Roger C

    2016-01-01

    The proximate genetic cause of both Thin GBM and Alport Syndrome (AS) is abnormal α3, 4 and 5 collagen IV chains resulting in abnormal glomerular basement membrane (GBM) structure/function. We previously reported that podocyte detachment rate measured in urine is increased in AS, suggesting that podocyte depletion could play a role in causing progressive loss of kidney function. To test this hypothesis podometric parameters were measured in 26 kidney biopsies from 21 patients aged 2-17 years with a clinic-pathologic diagnosis including both classic Alport Syndrome with thin and thick GBM segments and lamellated lamina densa [n = 15] and Thin GBM cases [n = 6]. Protocol biopsies from deceased donor kidneys were used as age-matched controls. Podocyte depletion was present in AS biopsies prior to detectable histologic abnormalities. No abnormality was detected by light microscopy at 70% podocyte depletion. Low level proteinuria was an early event at about 25% podocyte depletion and increased in proportion to podocyte depletion. These quantitative data parallel those from model systems where podocyte depletion is the causative event. This result supports a hypothesis that in AS podocyte adherence to the GBM is defective resulting in accelerated podocyte detachment causing progressive podocyte depletion leading to FSGS-like pathologic changes and eventual End Stage Kidney Disease. Early intervention to reduce podocyte depletion is projected to prolong kidney survival in AS.

  19. Bone marrow MRI in patients with myelodysplastic syndromes

    International Nuclear Information System (INIS)

    Chen Zhao; Guo You; Wang Renfa; Zou Mingli; Liu Wenli; Xia Liming; Wang Chengyuan

    2004-01-01

    Objective: To observe the MR imaging of bone marrow in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), and to reveal the rule of bone marrow infiltration and the role of MRI in diagnosing and predicting the prognosis of myelodysplastic syndromes. Methods: Thirty patients received MRI after the diagnosis based on clinic and FAB subtype study, including 16 with MDS and 14 with AML. MR image was obtained by T 1 -weighted spin echo and shot time inversion recovery in pelvis and femur. The examining results of morphology and blood routine were collected at the same time. 30 age-matched volunteers were selected as controls. Results: The MRI appearance was classified into their patterns based on scope of focus. MRI patterns from grade 1 to grade 3 was observed in patients with MDS. All patients with AML distributed in grade 2 to grade 3. The distribution of patterns had no significant difference between MDS and AML (P>0.05). The marrow ratio had significant difference among MDS, AML, and controls (P<0.05). The MRI grade was consistent with the clinic diagnostic indexes. Conclusion: MRI can provide a better understanding of the difference between MDS and AML. MRI can estimate the extent of disease in the marrow as a whole. MRI of bone marrow can provide imaging basis in diagnosis and predicting the prognosis for patients with MDS

  20. Regional cerebral glucose metabolism in patients with alcoholic Korsakoff's syndrome

    International Nuclear Information System (INIS)

    Kessler, R.M.; Parker, E.S.; Clark, C.M.; Martin, P.R.; George, D.T.; Weingartner, H.; Sokoloff, L.; Ebert, M.H.; Mishkin, M.

    1985-01-01

    Seven alcoholic male subjects diagnosed as having Korsakoff's syndrome and eight age-matched male normal volunteers were studied with /sup 18/F 2-fluoro-2-deoxy-D-glucose (2/sup 18/FDG). All subjects were examined at rest with eyes covered in a quiet, darkened room. Serial plasma samples were obtained following injection of 4 to 5 mCi of 2/sup 18/FDG. Tomographic slices spaced at 10mm axial increments were obtained (in-plane resolution = 1.75 cm, axial resolution = 1.78 cm). Four planes were selected from each subject, and a total of 46 regions of interest were sampled and glucose metabolic rates for each region calculated. The mean glucose metalbolic rate for the 46 regions in the Korsakoff subjects was significantly lower than that in the normal controls (5.17 +- .43 versus 6.6 +- 1.31). A Q-component analysis, which examined each subject's regional rates relative to his mean rate, revealed two distinct patterns in the Korsakoff group. Glucose metabolism was significantly reduced in 37 of the 46 regions sampled. Reduced cerebral glucose metabolism in a nondemented group of subjects has not previously been reported. The reduction in cortical metabolism may be the result of damage to sub-cortical projecting systems. The differing patterns of cerebral metabolism in Korsakoff's syndrome suggests subgroups with differing neuropathology. Regions implicated in memory function, medial temporal, thalamic and medial prefrontal were among the regions reduced in metabolism

  1. Effect of Cushing's syndrome - Endogenous hypercortisolemia on cardiovascular autonomic functions.

    Science.gov (United States)

    Jyotsna, V P; Naseer, Ali; Sreenivas, V; Gupta, Nandita; Deepak, K K

    2011-02-24

    Cushing's syndrome is associated with increased cardiovascular morbidity and mortality. It's also associated with other cardiac risk factors like hypertension, diabetes mellitus and obesity. Cardiovascular autonomic function impairment could predict cardiovascular morbidity and mortality. Twenty five patients with Cushing's syndrome without diabetes and twenty five age matched healthy controls underwent a battery of cardiovascular autonomic function tests including deep breath test, Valsalva test, hand grip test, cold pressor test and response to standing from lying position. The rise in diastolic blood pressure on hand grip test and diastolic BP response to cold pressor test in Cushing's patients were significantly less compared to healthy controls (9.83 ± 3.90 vs 20.64 ± 9.55, p<0.001 and 10.09 ± 4.07 vs 15.33 ± 6.26, p<0.01 respectively). The E:I ratio on deep breathing test was also less in the patients in comparison to controls (1.36 ± 0.21 vs 1.53 ± 0.19, p<0.01). Seven patients underwent the same battery of tests 6 months after a curative surgery showing a trend towards normalization with significant improvement in expiratory to inspiratory ratio and sinus arrhythmia delta heart rate. To conclude, this study showed that chronic endogenous hypercortisolism in Cushing's is associated with an impaired sympathetic cardiovascular autonomic functioning. After a curative surgery, some of the parameters tend to improve. Copyright © 2010 Elsevier B.V. All rights reserved.

  2. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

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

  3. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

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

  4. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

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

  5. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  6. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

    During the last 50 years it has become clear that malignant tumours can induce symptoms unrelated to the mechanical effects of the primary tumour itself or its metastasis. Today, the name Paraneoplastic syndrome is given to those symptom complexes that may affect the blood cells, electrolytes, coagulation system, muscle, skin, nerve and the endocrine system. Endocrine symptoms were first recognised, and different hormones were isolated from the tumour tissue. However, tumour derived hormones ...

  7. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

    1986-07-01

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

  8. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  9. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  10. 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.

  11. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  12. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  13. Neonatal respiratory distress syndrome

    Science.gov (United States)

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

  14. Toxic shock syndrome

    Science.gov (United States)

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

  15. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  16. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  17. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

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

  18. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  19. Mother-child agreement on behavioral ratings in Tourette syndrome: a controlled study.

    Science.gov (United States)

    Termine, Cristiano; Luoni, Chiara; Selvini, Claudia; Bandera, Valentina; Balottin, Umberto; Eddy, Clare M; Cavanna, Andrea E

    2014-01-01

    In Tourette syndrome, motor and phonic tics are associated with a spectrum of psychiatric disorders. As proxy report instruments are commonly used to assess children with Tourette syndrome, we investigated the relationship between child and mother ratings of behavioral problems. We enrolled 28 children with Tourette syndrome (25 males; mean age, 13.9 years) and 61 gender- and age-matched healthy controls (55 males; mean age, 14.7 years). Clinicians completed measures of tic severity, and all children completed the Youth Self-Report version of the Child Behavior Checklist, while their mothers completed the Child Behavior Checklist. In the clinical group, Youth Self-Report scores were significantly lower than mothers' Child Behavior Checklist scores across the majority of subscales (especially affect and somatization). In contrast, for the control group, mother and child ratings only differed for the externalizing behavior subscales. Clinicians should be aware of these differences between self and mother ratings for specific behavioral problems in Tourette syndrome.

  20. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome.

    Science.gov (United States)

    Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

    2017-04-01

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all PTurner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections.

  1. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  2. Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes

    Science.gov (United States)

    Mark, Barry J.; Becker, Bradley A.; Halloran, Donna R.; Bree, Alanna F.; Sindwani, Raj; Fete, Mary D.; Motil, Kathleen J.; Srun, Sopheak W.; Fete, Timothy J.

    2013-01-01

    Background Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. Objective To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. Methods A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). Results We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. Conclusion This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens. PMID:22626597

  3. CNS involvement in primary Sjogren Syndrome: assessment of gray and white matter changes with MRI and voxel-based morphometry.

    Science.gov (United States)

    Tzarouchi, Loukia C; Tsifetaki, Niki; Konitsiotis, Spyridon; Zikou, Anastasia; Astrakas, Loukas; Drosos, Alexandros; Argyropoulou, Maria I

    2011-11-01

    The purpose of this study was to evaluate with MRI the involvement of gray matter and white matter structures in patients with primary Sjögren syndrome. Fifty-three patients with primary Sjögren syndrome, 18 age- and disease duration-matched patients with systemic sclerosis, and 35 age-matched control subjects were examined for differences in white matter hyperintensities (WMHIs) detected on FLAIR MR images. Differences in brain volume between patients with primary Sjögren syndrome and controls were studied by application of voxel-based morphometry to a 3D T1-weighted sequence. WMHIs were observed in 38 of the 53 patients with primary Sjögren syndrome, six of 18 patients with systemic sclerosis, and 17 of 35 controls. The numbers of WMHIs 2 mm or larger and the number smaller than 2 mm were higher in patients with primary Sjögren syndrome than in controls (≥ 2 mm, p = 0.004; syndrome patients and that in systemic sclerosis patients. After control for age, a positive relation was found between disease duration and total number of WMHIs (p = 0.037) and number of WMHIs 2 mm or larger (p = 0.023) in patients with primary Sjögren syndrome. In comparison with the controls, patients with primary Sjögren syndrome had decreased gray matter volume in the cortex, deep gray matter, and cerebellum. Associated loss of white matter volume was observed in areas corresponding to gray matter atrophy and in the corpus callosum (p syndrome have WMHIs and gray and white matter atrophy, probably related to cerebral vasculitis.

  4. Higher levels of circulating chemerin in both lean and obese patients with polycystic ovary syndrome.

    Science.gov (United States)

    Ademoglu, E; Berberoglu, Z; Carlioglu, A; Dellal, F; Gorar, S; Alphan, Z; Uysal, S; Karakurt, F

    2014-12-01

    The aim of this paper was to compare serum chemerin levels in nonobese and overweight/obese patients with polycystic ovary syndrome (PCOS) with lean controls. Seventy women with newly diagnosed or untreated PCOS and 38 age-matched nonobese healthy controls were enrolled in the present study. Participants with PCOS were categorized as nonobese (Body Mass Index [BMI] PCOS group than in nonobese PCOS women but did not reach statistical significance. Nonobese healthy controls had significantly lower chemerin levels than two PCOS groups (Pwomen with PCOS than in other two groups. Also, these two parameters were higher in lean patients with PCOS than in healthy controls (PPCOS women but also in nonobese PCOS women. The physiological significance of elevated serum chemerin in PCOS remains unclear.

  5. Morbidity and medicine prescriptions in a nationwide Danish population of patients diagnosed with polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Glintborg, Dorte; Hass Rubin, Katrine; Nybo, Mads

    2015-01-01

    OBJECTIVE: The prevalence of type 2 diabetes is increased in polycystic ovary syndrome (PCOS), but the prevalence of other diseases is not clarified. We aimed to investigate morbidity and medicine prescriptions in PCOS. DESIGN: A National Register-based study. METHODS: Patients with PCOS (PCOS...... Denmark and an embedded cohort; PCOS Odense University Hospital (OUH)) and one control population. Premenopausal women with PCOS underwent clinical and biochemical examination (PCOS OUH, n=1217). PCOS Denmark (n=19 199) included women with PCOS in the Danish National Patient Register. Three age......-matched controls were included per patient (n=57 483). MAIN OUTCOME MEASURES: Diagnosis codes and filled prescriptions. RESULTS: The mean (range) age of the PCOS Denmark group and controls was 30.6 (12-60) years. Patients in PCOS Denmark had higher Charlson index, higher prevalence of diabetes, dyslipidemia...

  6. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  7. Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function.

    Directory of Open Access Journals (Sweden)

    Yana Sandlers

    Full Text Available Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia. While the primary biochemical defects of reduced mature cardiolipin and increased monolysocardiolipin are well-described, much of the downstream biochemical dysregulation has not been uncovered, and biomarkers are limited. In order to further expand upon the knowledge of the biochemical abnormalities in Barth Syndrome, we analyzed metabolite profiles in plasma from a cohort of individuals with Barth Syndrome compared to age-matched controls via 1H nuclear magnetic resonance spectroscopy and liquid chromatography-mass spectrometry. A clear distinction between metabolite profiles of individuals with Barth Syndrome and controls was observed, and was defined by an array of metabolite classes including amino acids and lipids. Pathway analysis of these discriminating metabolites revealed involvement of mitochondrial and extra-mitochondrial biochemical pathways including: insulin regulation of fatty acid metabolism, lipid metabolism, biogenic amine metabolism, amino acid metabolism, endothelial nitric oxide synthase signaling, and tRNA biosynthesis. Taken together, this data indicates broad metabolic dysregulation in Barth Syndrome with wide cellular effects.

  8. Laron syndrome abnormalities: spinal stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx.

    Science.gov (United States)

    Kornreich, Liora; Horev, Gadi; Schwarz, Michael; Karmazyn, Boaz; Laron, Zvi

    2002-04-01

    Patients with Laron syndrome have an inborn growth hormone resistance. We investigated abnormalities in the upper airways and cervical spine in patients with Laron syndrome. We prospectively examined 11 patients (one child aged 9 years and 10 adults aged 36-68 years), 10 of whom underwent MR imaging of the spine or head; nine, radiography of the cervical spine; and four, CT of C1-C2. The width of the spinal canal was evaluated visually and quantitatively and compared with reference values. The smallest diameter of the oropharynx and the thickness of the palate were measured and compared with reference values. Nine age-matched female patients referred for MR imaging for unrelated reasons served as control subjects. Cervical spinal stenosis was present in seven of the adult patients, within a confidence interval of 95%. Anomaly of the dens compatible with os odontoideum was present in three patients, causing focal myelomalacia in two. The atlanto-odontoid joint showed osteoarthritic changes in six of the adult patients. The mediolateral diameter of the oropharynx was significantly smaller in the patients with Laron syndrome than in the control subjects (P Laron syndrome develop significant narrowing of the cervical spinal canal and early degenerative changes of the atlanto-odontoid joint. Laron syndrome is associated with os odontoideum causing myelomalacia. The dimensions of the oropharynx are small. Patients may be prone to neurologic morbidity and sleep disturbances. Routine MR imaging of the cervical spine is recommended in these patients.

  9. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

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

  10. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

  11. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  12. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  13. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  14. A new cognitive evaluation battery for Down syndrome and its relevance for clinical trials

    Directory of Open Access Journals (Sweden)

    Susana ede Sola

    2015-06-01

    Full Text Available The recent prospect of pharmaceutical interventions for cognitive impairment of Down syndrome(DS has boosted a number of clinical trials in this population. However, running the trials has raised some methodological challenges and questioned the prevailing methodology used to evaluate cognitive functioning of DS individuals. This is usually achieved by comparing DS individuals to matched healthy controls of the same mental age. We propose a new tool, the TESDAD Battery that uses comparison with age-matched typically developed adults. This is an advantageous method for probing the clinical efficacy of DS therapies, allowing the interpretation and prediction of functional outcomes in clinical trials. In our DS population the TESDAD battery permitted a quantitative assessment of cognitive defects, which indicated language dysfunction and deficits in executive function, as the most important contributors to other cognitive and adaptive behavior outcomes as predictors of functional change in DS. Concretely, auditory comprehension and functional academics showed the highest potential as end-point measures of therapeutic intervention for clinical trials: the former as a cognitive key target for therapeutic intervention, and the latter as a primary functional outcome measure of clinical efficacy. Our results also emphasize the need to explore the modulating effects of IQ, gender and age on cognitive enhancing treatments. Noticeably, women performed significantly better than men of the same age and IQ in most cognitive tests, with the most consistent differences occurring in memory and executive functioning and negative trends rarely emerged on quality of life linked to the effect of age after adjusting for IQ and gender. In sum, the TESDAD battery is a useful neurocognitive tool for probing the clinical efficacy of experimental therapies in interventional studies in the DS population suggesting that age-matched controls are advantageous for determining

  15. Cortical venous disease severity in MELAS syndrome correlates with brain lesion development.

    Science.gov (United States)

    Whitehead, M T; Wien, M; Lee, B; Bass, N; Gropman, A

    2017-08-01

    MELAS syndrome is a mitochondrial disorder typified by recurrent stroke-like episodes, seizures, and progressive brain injury. Abnormal mitochondria have been found in arterial walls implicating a vasculogenic etiology. We have observed abnormal cortical vein T2/FLAIR signal in MELAS patients, potentially representing wall thickening and sluggish flow. We sought to examine the relationship of hyperintense veins and brain lesions in MELAS. Imaging databases at two children's hospitals were searched for brain MRIs from MELAS patients. Artifact, sedated exams, and lack of 2D-T2/FLAIR sequences were exclusion criteria. Each exam was assigned a venous score based on number of T2/FLAIR hyperintense veins: 1 = 20. Cumulative brain lesions and venous score in MELAS and aged-matched normal exams were compared by Mann-Whitney test. A total of 106 exams from 14 unique MELAS patients (mean 16 ± 3 years) and 30 exams from normal aged-matched patients (mean 15 ± 3 years) were evaluated. Median venous score between MELAS and control patients significantly differed (3 versus 1; p MELAS group, venous score correlated with presence (median = 3) or absence (median = 1) of cumulative brain lesions. In all 8 MELAS patients who developed lesions, venous hyperintensity was present prior to, during, and after lesion onset. Venous score did not correlate with brain lesion acuity. Abnormal venous signal correlates with cumulative brain lesion severity in MELAS syndrome. Cortical venous stenosis, congestion, and venous ischemia may be mechanisms of brain injury. Identification of cortical venous pathology may aid in diagnosis and could be predictive of lesion development.

  16. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  17. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  18. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  19. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  20. Elsberg syndrome

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  1. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

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

  2. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  3. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  4. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  5. Prevalence of metabolic syndrome in relation to body mass index and polycystic ovarian syndrome in Indian women.

    Science.gov (United States)

    Sharma, Sangita; Majumdar, Abha

    2015-01-01

    To study the prevalence of metabolic syndrome (MBS) in Indian women and to see how does it correlate to body mass index (BMI) and polycystic ovarian syndrome (PCOS) in this population. Prospective cross-sectional observational study. Infertility clinic of a tertiary center. Two hundred women, 120 with PCOs and 80 age-matched controls were enrolled. The prevalence of MBS was studied in the women with and without and was co related to BMI by further subgrouping as team (BMI 23 kg/m2). The sample size was: team controls-40, obese controls-40, team PCOS-80. Each subject underwent a physical examination and laboratory evaluation for the diagnosis of MBS, which was defined according to the guidelines of National Cholesterol Education Program Adult Treatment Pamel (NCEP ATP III) 2005. None. Subjects with and without PCOs were compared with each other for the prevalence of MBS, and similarly team subjects were compared with obese subjects. Receiver operator characteristic (ROC) curves were obtained for both the PCOS and non PCOS population separately, co-relating the prevalence of MBS with BMI. These ROC curves were used to establish the cut off values of BMI, which could best predict the risk of MBS. The prevalence of MBS was significantly higher in the women with PCOS, as compared to age-matched controls. Similarly, when BMI was considered, MBS was more prevalent in overweight subjects than in lean subjects with or without PCOS. In subgroup analysis, the presence of PCOS had a lesser impact on the prevalence of MBS as compared to non-PCOS controls with higher BMI. The relative risk of MBS increased as follows: lean controls-1, lean PCOS-2.66, obese controls-5.33, and obese PCOS-6.5. The most appropriate cut-off level of BMI for predicting the risk of MBS in Indian women without PCOS seems to be 23 kg/m(2), whereas, with PCOS, it was 22.5 kg/m(2). MBS is more prevalent in women with PCOS. However, obesity is an independent and stronger risk factor for developing MBS. To

  6. Prevalence of metabolic syndrome in relation to body mass index and polycystic ovarian syndrome in Indian women

    Directory of Open Access Journals (Sweden)

    Sangita Sharma

    2015-01-01

    Full Text Available Objective: To study the prevalence of metabolic syndrome (MBS in Indian women and to see how does it correlate to body mass index (BMI and polycystic ovarian syndrome (PCOS in this population. Study Design: Prospective cross-sectional observational study. Setting: Infertility clinic of a tertiary center.  Materials and Methods: Two hundred women, 120 with PCOs and 80 age-matched controls were enrolled. The prevalence of MBS was studied in the women with and without and was co related to BMI by further subgrouping as team (BMI 23 kg/m2. The sample size was: team controls-40, obese controls-40, team PCOS-80. Each subject underwent a physical examination and laboratory evaluation for the diagnosis of MBS, which was defined according to the guidelines of National Cholesterol Education Program Adult Treatment Pamel (NCEP ATP III 2005. INTERVENTION: None. Main Outcome Measures: Main Outcome Measures: Subjects with and without PCOs were compared with each other for the prevalence of MBS, and similarly team subjects were compared with obese subjects. Receiver operator characteristic (ROC curves were obtained for both the PCOS and non PCOS population separately, co-relating the prevalence of MBS with BMI. These ROC curves were used to establish the cut off values of BMI, which could best predict the risk of MBS. Results: The prevalence of MBS was significantly higher in the women with PCOS, as compared to age-matched controls. Similarly, when BMI was considered, MBS was more prevalent in overweight subjects than in lean subjects with or without PCOS. In subgroup analysis, the presence of PCOS had a lesser impact on the prevalence of MBS as compared to non-PCOS controls with higher BMI. The relative risk of MBS increased as follows: lean controls-1, lean PCOS-2.66, obese controls-5.33, and obese PCOS-6.5. The most appropriate cut-off level of BMI for predicting the risk of MBS in Indian women without PCOS seems to be 23 kg/m 2 , whereas, with PCOS, it

  7. Cardiovascular disease in women with polycystic ovary syndrome at long-term follow-up: a retrospective cohort study.

    Science.gov (United States)

    Wild, S; Pierpoint, T; McKeigue, P; Jacobs, H

    2000-05-01

    Polycystic ovary syndrome (PCOS) is associated with higher prevalence of cardiovascular risk factors but the relative prevalence of cardiovascular disease in women with PCOS has not previously been reported. We have compared cardiovascular mortality and morbidity in middle-aged women previously diagnosed with PCOS and age-matched control women. A retrospective cohort study of women diagnosed with PCOS in the United Kingdom before 1979. Seventy cohort members died before 31 March 1999. Morbidity data were collected from 319 women with PCOS and 1060 age-matched control women. Sixty-one women with PCOS and 63 control women attended a clinical examination. Data were collected from death certificates, general practitioners' records and questionnaires with measurement of cardiovascular risk factors in a subsample of questionnaire respondents. All-cause and cardiovascular mortality in the cohort were similar to women in the general population (standardized mortality ratios (95% CI): 93 (72-117) and 78 (45-124), respectively). Women with PCOS had higher levels of several cardiovascular risk factors: diabetes (P = 0.002) hypertension (P = 0.04), hypercholesterolaemia (P heart disease (CHD) was not significantly more common in women with PCOS (crude OR (95%CI) 1.5 (0.7-2.9)) but the crude OR for cerebrovascular disease was 2.8 (1.1-7.1). At long-term follow-up, a history of nonfatal cerebrovascular disease and cardiovascular risk factors including diabetes are more prevalent among women with polycystic ovary syndrome. Morbidity and mortality from of coronary heart disease among women with polycystic ovary syndrome is not as high as previously predicted. This finding challenges our understanding of the aetiology of coronary heart disease in women.

  8. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  9. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  10. Losartan Attenuates Degradation of Aorta and Lung Tissue Micromechanics in a Mouse Model of Severe Marfan Syndrome.

    Science.gov (United States)

    Lee, Jia-Jye; Galatioto, Josephine; Rao, Satish; Ramirez, Francesco; Costa, Kevin D

    2016-10-01

    Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue due to mutations in the fibrillin-1 gene (FBN1). This study aimed at characterizing microelastic properties of the ascending aortic wall and lung parenchyma tissues from wild type (WT) and age-matched Fbn1 hypomorphic mice (Fbn1(mgR/mgR) mice) to identify tissue-specific biomechanical effects of aging and disease in MFS. Atomic force microscopy was used to indent lung parenchyma and aortic wall tissues, using Hybrid Eshelby Decomposition analysis to extract layer-specific properties of the intima and media. The intima stiffened with age and was not different between WT and Fbn1(mgR/mgR) tissues, whereas the media layer of MFS aortas showed progressive structural and mechanical degradation with a modulus that was 50% softer than WT by 3.5 months of age. Similarly, MFS mice displayed progressive structural and mechanical deterioration of lung tissue, which was over 85% softer than WT by 3.5 months of age. Chronic treatment with the angiotensin type I receptor antagonist, losartan, attenuated the aorta and lung tissue degradation, resulting in structural and mechanical properties not significantly different from age-matched WT controls. By revealing micromechanical softening of elastin-rich aorta and lung tissues with disease progression in fibrillin-1 deficient mice, our findings support the use of losartan as a prophylactic treatment that may abrogate the life-threatening symptoms of MFS.

  11. Altered structural connectivity of cortico-striato-pallido-thalamic networks in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Worbe, Yulia; Marrakchi-Kacem, Linda; Lecomte, Sophie; Valabregue, Romain; Poupon, Fabrice; Guevara, Pamela; Tucholka, Alan; Mangin, Jean-François; Vidailhet, Marie; Lehericy, Stephane; Hartmann, Andreas; Poupon, Cyril

    2015-02-01

    Gilles de la Tourette syndrome is a childhood-onset syndrome characterized by the presence and persistence of motor and vocal tics. A dysfunction of cortico-striato-pallido-thalamo-cortical networks in this syndrome has been supported by convergent data from neuro-pathological, electrophysiological as well as structural and functional neuroimaging studies. Here, we addressed the question of structural integration of cortico-striato-pallido-thalamo-cortical networks in Gilles de la Tourette syndrome. We specifically tested the hypothesis that deviant brain development in Gilles de la Tourette syndrome could affect structural connectivity within the input and output basal ganglia structures and thalamus. To this aim, we acquired data on 49 adult patients and 28 gender and age-matched control subjects on a 3 T magnetic resonance imaging scanner. We used and further implemented streamline probabilistic tractography algorithms that allowed us to quantify the structural integration of cortico-striato-pallido-thalamo-cortical networks. To further investigate the microstructure of white matter in patients with Gilles de la Tourette syndrome, we also evaluated fractional anisotropy and radial diffusivity in these pathways, which are both sensitive to axonal package and to myelin ensheathment. In patients with Gilles de la Tourette syndrome compared to control subjects, we found white matter abnormalities in neuronal pathways connecting the cerebral cortex, the basal ganglia and the thalamus. Specifically, striatum and thalamus had abnormally enhanced structural connectivity with primary motor and sensory cortices, as well as paracentral lobule, supplementary motor area and parietal cortices. This enhanced connectivity of motor cortex positively correlated with severity of tics measured by the Yale Global Tics Severity Scale and was not influenced by current medication status, age or gender of patients. Independently of the severity of tics, lateral and medial orbito

  12. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  13. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

  14. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Gorlin's syndrome.

    Science.gov (United States)

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  16. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  17. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  18. Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

    Science.gov (United States)

    Weisman, O; Feldman, R; Burg-Malki, M; Keren, M; Geva, R; Diesendruck, G; Gothelf, D

    2017-12-01

    Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. © 2017

  19. Writing abilities in intellectual disabilities: a comparison between Down and Williams syndrome.

    Science.gov (United States)

    Varuzza, Cristiana; De Rose, Paola; Vicari, Stefano; Menghini, Deny

    2015-02-01

    Writing is a complex task that requires the integration of multiple cognitive, linguistic, and motor abilities. Until now, only a few studies investigated writing abilities in individuals with Intellectual Disability (ID). The aim of the present exploratory study was to provide knowledge on the organization of writing in two populations with ID, Down syndrome (DS) and Williams syndrome (WS), trying to disentangle different components of the process. A battery tapping diverse writing demands as low-level transcription skills as well as high-level writing skills was proposed to 13 individuals with WS, 12 individuals with DS and 11 mental-age-matched typically developing (TD) children. Results showed that the two groups with genetic syndromes did not differ from TD in writing a list of objects placed in bedroom, in the number of errors in the text composition, in a text copying task and in kind of errors made. However, in a word dictation task, individuals with DS made more errors than individuals with WS and TD children. In a pseudoword dictation task, both individuals with DS and WS showed more errors than TD children. Our results showed good abilities in individuals with ID in different aspects of writing, involving not only low-level transcription skills but also high-level composition skills. Contrary to the pessimistic view, considering individuals with ID vulnerable for failure, our results indicate that the presence of ID does not prevent the achievement of writing skills. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  1. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  2. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  3. Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

    International Nuclear Information System (INIS)

    Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E.

    2001-01-01

    Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD

  4. Infection and immunity in Down syndrome: a trial of long-term low oral doses of zinc.

    Science.gov (United States)

    Lockitch, G; Puterman, M; Godolphin, W; Sheps, S; Tingle, A J; Quigley, G

    1989-05-01

    To determine whether orally administered zinc supplements could correct the abnormal humoral and cell-mediated immunity of Down syndrome, we randomly assigned 64 children with Down syndrome, aged 1 to 19 years and living at home, to receive either zinc gluconate or placebo daily for 6-month periods with crossover from one regimen to another. Control subjects were siblings and age-matched, unrelated children. Serum zinc, copper, and measures of immune system competence were tested at 3- or 6-month intervals. Parents kept daily logs of clinical symptoms such as cough and diarrhea and of physician visits. Mean serum zinc concentrations increased to about 150% of baseline during zinc supplementation, but we found no effect on serum levels of copper, immunoglobulins, or complement; on lymphocyte number or subset distribution; or on in vitro response to mitogens. Children with Down syndrome who were receiving zinc had a trend toward fewer days or episodes of cough and fever but no change in other clinical variables. Long-term, low-dose oral zinc supplementation to improve depressed immune response or to decrease infections in children with Down syndrome cannot be recommended.

  5. Differential regional cerebral glucose metabolism in clinical syndromes of frontotemporal lobar degeneration: a study with FDG PET

    Energy Technology Data Exchange (ETDEWEB)

    Park, J. M.; Cho, S. S.; Na, D. L.; Lee, K. H.; Choi, Y.; Choe, Y. S.; Kim, B. T.; Kim, S. E. [College of Medicine, Sungkyunkwan Univ., Seoul (Korea, Republic of)

    2001-07-01

    Frontotemporal lobar degeneration( FTLD) is the third most common dementia, following Alzheimer's disease and Lewy body disease. Four prototypic neurobehavioral syndromes can be produced by FTLD: frontotemporal dementia (FTD), frontotemporal dementia with motor neuron disease (MND), semantic dementia (SD), and progressive aphasia (PA). We investigated patterns of metabolic impairment in patient with FTLD presented with four different clinical syndromes. We analysed glucose metabolic patterns on FDG PET images obtained from 34 patients with a clinical diagnosis of FTLD (19 FTD, 6 MND, 6 SD, and 3 PA, according to a consensus criteria for clinical syndromes associated with FTLD) and 7 age-matched healthy controls using SPM99. Patients with FTD had metabolic deficit in the left frontal cortex and bilateral anterior temporal cortex. Hypometabolism in the bilateral premotor are was shown in patients with MND. Patients with SD had metabolic deficit in the left posterior temporal cortex including Wernicke's area, while hypometabolism in the bilateral inferior frontal gyrus including Broca's area and left angular gyrus was seen in patients with PA. These metabolic patterns were well correlated with clinical features of FTLD syndromes. These data provide a biochemical basis of clinical classification of FTLD. FDG PET may help evaluate and classify patients with FTLD.

  6. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  7. Pseudohypopituitary syndromes.

    Science.gov (United States)

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  8. Hepatorenal syndrome.

    Science.gov (United States)

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  9. Fracture risk is decreased in women with polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Rubin, Katrine Hass; Glintborg, Dorte; Nybo, Mads

    2016-01-01

    Hyperandrogenism, obesity, and hyperinsulinemia may protect against osteoporosis, whereas amenorrhea, increased cortisol, and low growth hormone may be associated with higher fracture risk in polycystic ovary syndrome (PCOS). OBJECTIVE: To investigate fracture risk in PCOS. MATERIAL/METHODS: PCOS...... be greater in women who have not yet reached peak bone mass. Reduced participation in sports activities was probably not the reason for the reduced risk of fractures. This article is protected by copyright. All rights reserved....... Denmark: Women with PCOS and/or hirsutism were identified in the Danish National Patient Register (1995-2012). Each patient was assigned three age-matched controls on the index date of PCOS diagnosis. Individuals with a previous endocrine diagnosis were excluded. Within PCOS Denmark, we embedded a well......-characterized subcohort of patients, PCOS OUH, diagnosed with PCOS at Odense University Hospital (n = 1,217). We identified incident fractures by ICD-10 codes and used conditional Cox regression analysis to compare fracture risk. RESULTS: PCOS Denmark: 19,199 women with PCOS and 57,483 controls were included, mean age 30...

  10. Blood biomarkers of Hikikomori, a severe social withdrawal syndrome.

    Science.gov (United States)

    Hayakawa, Kohei; Kato, Takahiro A; Watabe, Motoki; Teo, Alan R; Horikawa, Hideki; Kuwano, Nobuki; Shimokawa, Norihiro; Sato-Kasai, Mina; Kubo, Hiroaki; Ohgidani, Masahiro; Sagata, Noriaki; Toda, Hiroyuki; Tateno, Masaru; Shinfuku, Naotaka; Kishimoto, Junji; Kanba, Shigenobu

    2018-02-13

    Hikikomori, a severe form of social withdrawal syndrome, is a growing social issue in Japan and internationally. The pathophysiology of hikikomori has not yet been elucidated and an effective treatment remains to be established. Recently, we revealed that avoidant personality disorder is the most common comorbidity of hikikomori. Thus, we have postulated that avoidant personality is the personality underpinning hikikomori. First, we herein show relationships between avoidant personality traits, blood biomarkers, hikikomori-related psychological features, and behavioural characteristics assessed by a trust game in non-hikikomori volunteers. Avoidant personality traits were negatively associated with high-density lipoprotein cholesterol (HDL-C) and uric acid (UA) in men, and positively associated with fibrin degeneration products (FDP) and high sensitivity C-reactive protein (hsCRP) in women. Next, we recruited actual individuals with hikikomori, and compared avoidant personality traits, blood biomarkers, and psychological features between individuals with hikikomori and age-matched healthy controls. Individuals with hikikomori had higher avoidant personality scores in both sexes, and showed lower serum UA levels in men and lower HDL-C levels in women compared with healthy controls. This is the first report showing possible blood biomarkers for hikikomori, and opens the door to clarify the underlying biological pathophysiology of hikikomori.

  11. Bipolar disorder in women with polycystic ovarian syndrome (PCO.

    Directory of Open Access Journals (Sweden)

    Fatemeh Davari-Tanha

    2014-01-01

    Full Text Available This study was designed to determine the prevalence of bipolar disorder in women with polycystic ovarian syndrome (PCO. One hundred and ten women with definite diagnosis of PCO and one hundred and ten age-matched infertile women due to other reasons except for PCO were enrolled in this case-control study. Ten ml fasting venous blood sample obtained to measure fasting glucose, LH and FSH. Height, weight and waist-to-hip ratio (WHR were also recorded by an expert technician. A psychiatrist examined all 220 cases in order to determine the prevalence of depression and bipolarity. Mean age of each group participants were not significantly different while FBS, LH and LH/FSH levels were significantly higher in PCO patients. Eighty eight case were depressed in PCO group while 96 were depressed in control group (P=0.03. Bipolar disorder were higher in PCO group in comparison with controls (8 vs. 0, P=0.004. Psychiatric disorders should be considered in PCO women.

  12. Self-schema in irritable bowel syndrome and depression.

    Science.gov (United States)

    Toner, B B; Garfinkel, P E; Jeejeebhoy, K N; Scher, H; Shulhan, D; Di Gasbarro, I

    1990-01-01

    Some investigators have suggested that irritable bowel syndrome (IBS) represents a physiologic expression of an affective disorder. This study investigated whether IBS patients differed in their self-schema from depressed patients. Self-schema refers to a cognitive framework of the individual's beliefs, attitudes, and self-perceptions which is stored in memory and which influences incoming information. The sample consisted of 21 IBS patients, 21 psychiatric outpatients with major depression (MD), and 19 normal controls. All groups were age matched. Subjects completed a structured psychiatric interview (Diagnostic Interview Schedule (DIS) and a Beck Depression Inventory (BDI), in addition to a test of self-schema, which involved rating and recall of a variety of "depressed" and "nondepressed" content adjectives. Consistent with previous work on self-schema, the MD group recalled significantly more depressed adjectives rated under the self-referent task than the Control group (p less than 0.05) and, also, the IBS group (p less than 0.05). Most striking was the finding that a subgroup of IBS patients who met criteria for MD (43% of the sample) recalled significantly more self-referent nondepressed words (and less self-referent depressed words) than the MD group (p less than 0.05). In other words, IBS patients with MD do not view themselves as depressed. These findings suggest that while some IBS and depressed psychiatric outpatients may share depressive symptoms, these groups can be differentiated by their self-schema.

  13. Neural Correlate of Anterograde Amnesia in Wernicke-Korsakoff Syndrome.

    Science.gov (United States)

    Nahum, Louis; Pignat, Jean-Michel; Bouzerda-Wahlen, Aurélie; Gabriel, Damien; Liverani, Maria Chiara; Lazeyras, François; Ptak, Radek; Richiardi, Jonas; Haller, Sven; Thorens, Gabriel; Zullino, Daniele F; Guggisberg, Adrian G; Schnider, Armin

    2015-09-01

    The neural correlate of anterograde amnesia in Wernicke-Korsakoff syndrome (WKS) is still debated. While the capacity to learn new information has been associated with integrity of the medial temporal lobe (MTL), previous studies indicated that the WKS is associated with diencephalic lesions, mainly in the mammillary bodies and anterior or dorsomedial thalamic nuclei. The present study tested the hypothesis that amnesia in WKS is associated with a disrupted neural circuit between diencephalic and hippocampal structures. High-density evoked potentials were recorded in four severely amnesic patients with chronic WKS, in five patients with chronic alcoholism without WKS, and in ten age matched controls. Participants performed a continuous recognition task of pictures previously shown to induce a left medial temporal lobe dependent positive potential between 250 and 350 ms. In addition, the integrity of the fornix was assessed using diffusion tensor imaging (DTI). WKS, but not alcoholic patients without WKS, showed absence of the early, left MTL dependent positive potential following immediate picture repetitions. DTI indicated disruption of the fornix, which connects diencephalic and hippocampal structures. The findings support an interpretation of anterograde amnesia in WKS as a consequence of a disconnection between diencephalic and MTL structures with deficient contribution of the MTL to rapid consolidation.

  14. Status of Homocysteine in Polycystic Ovary Syndrome (PCOS).

    Science.gov (United States)

    Maleedhu, Priyanka; M, Vijayabhaskar; S S B, Sharma; Kodumuri, Praveen K; Devi D, Vasundhara

    2014-02-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disease in women of reproductive age and is estimated to affect 5-10 % of the population. Women with PCOS have a clustering of cardiovascular risk factors, such as obesity, dyslipidemia, impaired glucose tolerance and hypertension. Homocysteine has been recognized recently as a risk factor for cardiovascular diseases. Preliminary investigations suggest that high sensitivity C-reactive protein, homocysteine and adiponectin are abnormal in women with PCOS. The possible determinants of elevated homocysteine concentration are still debated among authors who found significant correlations between homocysteine and insulin resistance or hyperandrogenism. The purpose of this study is to evaluate homocysteine levels in the PCOS population compared with controls. Study group comprised of 142 women with PCOS and 65 healthy non-PCOS controls. Body mass index (BMI), Waist circumference and serum homocysteine were measured in PCOS subjects and age matched controls. Statastical Analysis: All values are expressed as mean α SD. The results obtained are analysed statistically using the unpaired student t-test to evaluate the significance of differences between the mean values. The mean BMI, Waist circumference and serum homocysteine values are significantly increased in PCOS subjects when compared with non PCOS controls. The present study has demonstrated increase in mean serum homocysteine concentrations in women with PCOS.

  15. Impaired exploratory eye movements in children with Asperger's syndrome.

    Science.gov (United States)

    Ohya, Takashi; Morita, Kiichiro; Yamashita, Yushiro; Egami, Chiyomi; Ishii, Youhei; Nagamitsu, Shinichiro; Matsuishi, Toyojiro

    2014-03-01

    Previous eye-tracking studies using an eye mark recorder have reported that disturbances in exploratory eye movements in adult schizophrenic patients are associated with social functioning. The current study sought to determine whether exploratory eye-movement disturbances are present in children with Asperger's syndrome (AS) compared with typically developing (TD) children. MATERIALS/PARTICIPANTS: The participants were 23 children with AS and 23 age-matched TD children. We measured exploratory eye movements using an EMR-8B eye mark recorder and an exploratory eye movement-measuring device. Eye movements were recorded while participants freely observed a geometric figure (free viewing task), and while they complied with the instructions of an experimenter (repeat-comparison task). We assessed eye fixation points (EFPs) and total eye scanning length (TESL) in all tasks, and measured the responsive search score (RSS) in the repeat-comparison task. In the free viewing task, children with AS exhibited significantly shorter TESL compared with TD children. In the repeat-comparison task, children with AS exhibited significantly lower RSS. Autism Spectrum Screening Questionnaire scores were negatively correlated with both EFP and TESL, but not RSS. The current results revealed that children with AS exhibited dysfunction in exploratory eye movements. Thus, assessing exploratory eye movements in a repeat-comparison task may be useful for detecting social impairment among children with AS. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  16. Visual impairment evaluation in 119 children with congenital Zika syndrome.

    Science.gov (United States)

    Ventura, Liana O; Ventura, Camila V; Dias, Natália de C; Vilar, Isabelle G; Gois, Adriana L; Arantes, Tiago E; Fernandes, Luciene C; Chiang, Michael F; Miller, Marilyn T; Lawrence, Linda

    2018-06-01

    To assess visual impairment in a large sample of infants with congenital Zika syndrome (CZS) and to compare with a control group using the same assessment protocol. The study group was composed of infants with confirmed diagnosis of CZS. Controls were healthy infants matched for age, sex, and socioeconomic status. All infants underwent comprehensive ophthalmologic evaluation including visual acuity, visual function assessment, and visual developmental milestones. The CZS group included 119 infants; the control group, 85 infants. At examination, the mean age of the CZS group was 8.5 ± 1.2 months (range, 6-13 months); of the controls, 8.4 ± 1.8 months (range, 5-12 months; P = 0.598). Binocular Teller Acuity Card (TAC) testing was abnormal in 107 CZS infants and in 4 controls (89.9% versus 5% [P visual development milestones were less achieved by infants with CZS compared to controls (P visual impairment. A protocol for assessment of the ocular findings, visual acuity, and visual developmental milestones tested against age-matched controls is suggested. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  17. Cerebral blood flow is reduced in patients with sepsis syndrome

    International Nuclear Information System (INIS)

    Bowton, D.L.; Bertels, N.H.; Prough, D.S.; Stump, D.A.

    1989-01-01

    The relationship between sepsis-induced CNS dysfunction and changes in brain blood flow remains unknown, and animal studies examining the influence of sepsis on cerebral blood flow (CBF) do not satisfactorily address that relationship. We measured CBF and cerebrovascular reactivity to CO 2 in nine patients with sepsis syndrome using the 133 Xe clearance technique. Mean CBF was 29.6 +/- 15.8 (SD) ml/100 g.min, significantly lower than the normal age-matched value in this laboratory of 44.9 +/- 6.2 ml/100 g.min (p less than .02). This depression did not correlate with changes in mean arterial pressure. Despite the reduction in CBF, the specific reactivity of the cerebral vasculature to changes in CO 2 was normal, 1.3 +/- 0.9 ml/100 g.min/mm Hg. Brain blood flow is reduced in septic humans; the contribution of this reduction to the metabolic and functional changes observed in sepsis requires further study

  18. Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review.

    Science.gov (United States)

    Shin, Ji Yeon; Kim, Bo Hyun; Kim, Young Keum; Kim, Tae Hwa; Kim, Eun Heui; Lee, Min Jin; Kim, Jong Ho; Jeon, Yun Kyung; Kim, Sang Soo; Kim, In Joo

    2018-05-10

    Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. The aetiology of hypertension in Turner syndrome varies, even in the absence of cardiac anomalies and obvious structural renal abnormalities. Pheochromocytoma is an extremely rare cause among various etiologies for hypertension in patients with Turner syndrome. Here, we reported a pheochromocytoma as a rare cause of hypertension in Turner syndrome patient. A 21-year-old woman who has diagnosed with Turner syndrome with a karyotype of 46,X,i(X)(q10) visited for hypertension and mild headache. Transthoracic echography (TTE) showed no definite persistent ductus arteriosus shunt flow and cardiac valve abnormalities. Considering other important secondary causes like pheochromocytoma, hormonal studies were performed and the results showed increased serum norepinephrine, serum normetanephrine, and 24 h urine norepinephrine. We performed an abdominal computed tomography (CT) to confirm the location of pheochromocytoma. Abdominal CT showed a 1.9 cm right adrenal mass. I-131 meta-iodobenzylguanidine (MIBG) scintigraphy showed a right adrenal uptake. Laparoscopic adrenalectomy was performed and confirmed a pheochromocytoma. After surgery, blood pressure was within normal ranges and postoperative course was uneventful, and no recurrence developed via biochemical tests and abdominal CT until 24 months. Our case and previous literatures suggest that hypertension caused by pheochromocytoma which is a rare but important and potentially lethal cause of hypertension in Turner syndrome. This case underlines the importance of early detection of pheochromocytoma in Turner syndrome. Clinicians should keep in mind that pheochromocytoma can be a cause of hypertension in patients with Turner syndrome.

  19. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik

    2012-01-01

    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  20. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  1. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  2. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  3. Marfan syndrome (image)

    Science.gov (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  4. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  5. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  6. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  7. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  8. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  9. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  10. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  11. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  12. Tics and Tourette Syndrome

    Science.gov (United States)

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  13. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  14. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  15. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  16. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  17. Burning Mouth Syndrome

    Science.gov (United States)

    ... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

  18. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

  19. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  20. Differential Relationships of Anxiety and Autism Symptoms on Social Skills in Young Boys With Fragile X Syndrome.

    Science.gov (United States)

    Reisinger, Debra L; Roberts, Jane E

    2017-09-01

    Social skills are critical for academic, social, and psychological success of children with both typical and atypical development. Boys with fragile X syndrome (FXS) are at high risk for social skill impairments, given intellectual impairments and secondary conditions. The present study examines the impact of adaptive behavior, autism symptoms, and anxiety symptoms to social skills at the composite and subdomain level in boys with FXS across age. This cross-sectional study included boys with FXS (3-14 years) contrasted to age-matched typical control boys. Results revealed that social skills are generally within developmental expectations, with adaptive behavior as the primary predictor. Anxiety and autism symptoms emerged as additive risk factors, particularly in the areas of responsibility and self-control.

  1. A preliminary report of 99Tcm-ECD brain SPECT imaging in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Xu Hao; Tong Yuwei; Luo Jinxiang; Chen Jian; Wu Qiulian

    2001-01-01

    Objective: To investigate the changes of regional cerebral blood flow (rCBF) in patients with acquired immunodeficiency syndrome (AIDS). Methods: 99 Tc m -ECD brain SPECT imaging was performed on 5 patients with AIDS and 16 sex- and age-matched normal controls. The rCBF percentages compared to the cerebellum were calculated using a semi-quantitative processing software. Results: Hypo-perfusions in the right and left frontal, temporal, parietal lobe, basal ganglia and left thalamus were seen in 1 patient with dementia. Hypo-perfusions in the right and left frontal and temporal lobe were seen in 4 patients without dementia. The rCBF in the right and left frontal, temporal, parietal lobe, basal ganglia and thalamus, straight gyri and pons decreased significantly in patients with AIDS than those of the control subjects (P < 0.01). Conclusion: There is reduced cortico-subcortical rCBF in patients with AIDS

  2. Polycystic ovary syndrome (PCOS), insulin resistance and insulin-like growth factors (IGfs)/IGF-binding proteins (IGFBPs).

    Science.gov (United States)

    Wang, Hsin-Shih; Wang, Tzu-Hao

    2003-08-01

    Polycystic ovary syndrome (PCOS) is the most frequent androgen disorder of ovarian function. Hyperinsulinemia with insulin resistance is believed to be a key link in the enigmatic generation of the symptoms of PCOS such as anovulatory infertility and hyperandrogenism. Regression of these symptoms may be achieved by reducing the hyperinsulinemia. A growing body of evidence suggests that PCOS patients with hyperinsulinemia have a higher risk to develop diabetes mellitus, hypertension and cardiovascular disease as compared to age-matched women. Although oral contraceptives, progestins, antiandrogens, and ovulation induction agents remain standard therapies, weight loss should also be vigorously encouraged to ameliorate the metabolic consequences of PCOS. In addition, insulin-sensitizing agents are now being shown to be useful alone or combined with standard therapies to alleviate hyperinsulinemia in PCOS. Finally and most importantly, early identification of patients at risk and prompt initiation of therapies, followed by long-term surveillance and management, may promote the patient's long-term health.

  3. Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress

    DEFF Research Database (Denmark)

    Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob

    2013-01-01

    The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress...... responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High...... interpersonal variance found in the SIDS group indicated that they represented a more heterogeneous group than controls. The SIDS group responded to thermal stress with a higher expression of the HSPA1B and HSPD1 genes compared to the control group, whereas no significant difference was observed...

  4. Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

    Science.gov (United States)

    Ram, Suresh; Devapriya, Inoka A; Fenton, Grace; Mcvay, Lindsey; Nguyen, Danh V; Tassone, Flora; Maselli, Ricardo A; Hagerman, Randi J

    2015-08-01

    In this study we examined whether females with the fragile X-associated tremor ataxia syndrome (FXTAS) and non-FXTAS premutation carriers have electrophysiological signs of underlying peripheral neuropathy. Nerve conduction studies (NCS) were performed on 19 women with FXTAS, 20 non-FXTAS carriers, and 26 age-matched controls. The results were compared with existing data on corresponding male carriers. Women with FXTAS and non-FXTAS carriers had reduced sensory nerve action potential amplitudes. Also, there was a strong trend for reduced compound muscle action potential amplitudes in women with FXTAS, but not in non-FXTAS carriers. No significant slowing of nerve conduction velocities, prolongation of F-wave latencies, or associations with molecular measures was observed. This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X chromosome. © 2014 Wiley Periodicals, Inc.

  5. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  6. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  7. PRES syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Novakova, M.; Balev, B.; Baleva, D.; Nedelchev, K.

    2010-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  8. Postthrombotic syndrome.

    Science.gov (United States)

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  9. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  10. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  11. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  12. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  13. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  14. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  15. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  16. 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

  17. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  18. Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians.

    Science.gov (United States)

    Lim, D B N; Gault, E J; Kubba, H; Morrissey, M S C; Wynne, D M; Donaldson, M D C

    2014-07-01

    Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5-15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  19. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  20. Fibromyalgia--a syndrome associated with decreased nocturnal melatonin secretion.

    Science.gov (United States)

    Wikner, J; Hirsch, U; Wetterberg, L; Röjdmark, S

    1998-08-01

    Most patients with fibromyalgic syndrome (FMS) complain of sleep disturbances, fatigue, and pain. These symptoms might be a consequence of changed melatonin (MT) secretion, since MT is known to have sleep promoting properties. Moreover, serum concentrations of two MT precursors (tryptophan and serotonin)--affecting both sleep and pain perception--appear to be low in patients with FMS. Therefore, the objective of this investigation was to study whether serum MT (s-MT) level is also low in these patients. Eight patients with FMS and 8 healthy sex-, BMI-, and age-matched controls were included in the study. s-MT concentrations were determined every second hour between 1800 and 0800 h. Urine was collected between 2200 and 0700 h for determination of urinary MT excretion. To evaluate total MT secretion between 1800 and 0800 h and MT secretion during the hours of darkness (between 23 and 07 h) individual MT areas under the curve (AUC) were calculated and expressed as group means. The FMS patients had a 31% lower MT secretion than healthy subjects during the hours of darkness (MT AUC 2300-0700 h (mean +/- SEM): 1.70 +/- 0.17 vs 2.48 +/- 0.38 nmol/l; P < 0.05). Also the s-MT peak value was significantly lower in the patient group: 0.28 +/- 0.03 vs 0.44 +/- 0.06 nmol/l; P < 0.05). Patients with fibromyalgic syndrome have a lower melatonin secretion during the hours of darkness than healthy subjects. This may contribute to impaired sleep at night, fatigue during the day, and changed pain perception.

  1. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  2. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  3. Anthropometric characteristics and dietary pattern of women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Afsane Ahmadi

    2013-01-01

    Full Text Available Objective: Polycystic ovary syndrome (PCOS is the most common endocrine disorder among women of reproductive age.PCOS is considered to be not only a reproductive endocrinopathy, but also a metabolic disorder.The objective of the present study was to characterize the anthropometric and dietary profile of women with PCOS and to compare it with that of healthy age-matched women. Design: In this case-control study, 65 women with PCOS served as cases. The control group consisted of 65 age-matched healthy women. For each participant, demographic, anthropometric and dietary intake data were gathered and compared between the two groups. Results: There was no significant difference between the mean of the body mass index of the two groups, but the mean of waist circumference was significantly higher in the PCOS group, than the control group ( P = 0.016. Compared to the normal weight PCOS patients, a significantly higher percentage of overweight patients had hirsutism ( P = 0.009. In dietary analysis, women with PCOS consumed more calories and more fat than healthy women ( P = 0.001 and P = 0.019, respectively. Conclusion: It is concluded that in PCOS patients, android obesity is a common feature and this abdominal adiposity may be related to the syndrome′s complications. PCOS symptoms were more severe in overweight patients than the normal weight. Regarding the dietary pattern, it was indicated that patients with PCOS consume more calories and more fat in their diets and this might have been correlated to their disease.

  4. Association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome: a north Indian study.

    Science.gov (United States)

    Haldar, Deepa; Agrawal, Nitin; Patel, Seema; Kambale, Pankaj Ramrao; Arora, Kanchan; Sharma, Aditi; Tripathi, Manish; Batra, Aruna; Kabi, Bhaskar C

    2018-03-01

    Polycystic ovarian syndrome (PCOS) is the most common endocrine abnormality among women of reproductive age and is usually associated with oligo-ovulation/anovulation, obesity, and insulin resistance. Hypovitaminosis D may also be a primary factor in the initiation and development of PCOS. However, little is known about the role of genetic variation in vitamin D metabolism in PCOS aetiology. Therefore, we studied the genetic polymorphisms of CYP2R1 and vitamin D binding protein (VDBP) in an Indian population. Serum vitamin D was measured by ELISA. Genotyping of VDBP single nucleotide polymorphisms (SNPs) rs7041 (HaeIII; G>T) and rs4588 (StyI; A>C) and CYP2R1 SNP rs2060793 (HinfI; A>G) was carried out by restriction fragment length polymorphism in 50 cases of PCOS that were compared with 50 age-matched healthy women. Vitamin D levels were found to be significantly lower in women with PCOS (p = 0.008) than in age-matched controls. There was no significant difference in genotype frequencies of all three polymorphisms (rs7041, rs4588, and rs2060793) between PCOS and control women. In women with a vitamin D deficiency (women increase the risk of PCOS.

  5. Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc IgM Antibody Fraction

    Directory of Open Access Journals (Sweden)

    Anna Maria Papini

    2014-01-01

    Full Text Available Rett syndrome (RTT, a neurodevelopmental disorder affecting exclusively (99% female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2 and, more rarely, cyclin-dependent kinase-like 5 (CDKL5 and forkhead box protein G1 (FOXG1. In this study, we aimed to evaluate the function of the immune system by measuring serum immunoglobulins (IgG and IgM in RTT patients (n=53 and, by comparison, in age-matched children affected by non-RTT pervasive developmental disorders (non-RTT PDD (n=82 and healthy age-matched controls (n=29. To determine immunoglobulins we used both a conventional agglutination assay and a novel ELISA based on antibody recognition by a surrogate antigen probe, CSF114(Glc, a synthetic N-glucosylated peptide. Both assays provided evidence for an increase in IgM titer, but not in IgG, in RTT patients relative to both healthy controls and non-RTT PDD patients. The significant difference in IgM titers between RTT patients and healthy subjects in the CSF114(Glc assay (P=0.001 suggests that this procedure specifically detects a fraction of IgM antibodies likely to be relevant for the RTT disease. These findings offer a new insight into the mechanism underlying the Rett disease as they unveil the possible involvement of the immune system in this pathology.

  6. Features of polycystic ovary syndrome (PCOS) in women with functional hypothalamic amenorrhea (FHA) may be reversible with recovery of menstrual function.

    Science.gov (United States)

    Carmina, Enrico; Fruzzetti, Franca; Lobo, Roger A

    2018-04-01

    Since features of polycystic ovary syndrome (PCOS) have been found to be prevalent in women with functional hypothalamic amenorrhea (FHA), we wished to determine what happens to these features after recovery of menstrual function in FHA Design: Prospective cohort study. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. We measured serum estradiol, LH, FSH, testosterone, DHEAS, anti-Mullerian hormone (AMH), body mass index, and ovarian morphology on transvaginal ultrasound. At baseline, 12 of the 28 women (43%) had increased AMH (>4.7 ng/mL), and higher testosterone and larger ovaries compared to the other 16 women with normal AMH. One year after recovery of menstrual function, in the 12 women with increased AMH, serum AMH, testosterone and ovarian size decreased, while LH and estradiol increased. At one year, only one of the 12 women in the high AMH group developed clinical features of PCOS. In the majority of women with FHA who have PCOS-like features, these features may be due to the hypothalamic state and appear to be reversible. Few women may develop clinical PCOS after recovery.

  7. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  8. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  9. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  10. Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: a prospective controlled study.

    Science.gov (United States)

    Dalamaga, Maria; Papadavid, Evangelia; Basios, Georgios; Vaggopoulos, Vassilios; Rigopoulos, Dimitrios; Kassanos, Dimitrios; Trakakis, Eftihios

    2013-12-01

    SAHA syndrome is characterized by the tetrad: seborrhea, acne, hirsutism, and androgenetic alopecia. No previous study has examined the prevalence of glucose abnormalities in ovarian SAHA and explored whether it may be an independent risk factor for glucose abnormalities. In a prospective controlled study, we investigated the spectrum of glucose abnormalities in ovarian SAHA and explored whether it is associated with a more insulin-resistant profile. In all, 316 patients with a diagnosis of polycystic ovary syndrome (PCOS) (56 with SAHA) and 102 age-matched healthy women were examined and underwent a 2-hour oral glucose tolerance test. Serum glucose homeostasis parameters, hormones, and adipokines were determined. SAHA prevalence was 17.7% in patients with PCOS and predominance of the severe PCOS phenotype. Ovarian SAHA was independently associated with a more insulin-resistant profile (higher homeostatic model assessment of insulin resistance score, lower quantitative insulin sensitivity check index [QUICKI] and MATSUDA indices, and relative hypoadiponectinemia), and represented an independent risk factor for glucose abnormalities regardless of anthropometric features, age, and PCOS phenotype. There was no performance of skin biopsies. The prompt recognition of SAHA syndrome in women with PCOS permits an earlier diagnosis and surveillance of metabolic abnormalities, especially in Mediterranean PCOS population exhibiting a lower prevalence of glucose abnormalities. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  11. Guillain-Barré Syndrome outbreak associated with Zika virus infection in French Polynesia: a case-control study.

    Science.gov (United States)

    Cao-Lormeau, V M; Blake, A; Mons, S; Lastere, S; Roche, C; Vanhomwegen, J; Dub, T; Baudouin, L; Teissier, A; Larre, P; Vial, A L; Decam, C; Choumet, V; Halstead, S K; Willison, H J; Musset, L; Manuguerra, J C; Despres, P; Fournier, E; Mallet, H P; Musso, D; Fontanet, A; Neil, J; Ghawché, F

    2016-04-09

    Between October, 2013, and April, 2014, French Polynesia experienced the largest Zika virus outbreak ever described at that time. During the same period, an increase in Guillain-Barré syndrome was reported, suggesting a possible association between Zika virus and Guillain-Barré syndrome. We aimed to assess the role of Zika virus and dengue virus infection in developing Guillain-Barré syndrome. In this case-control study, cases were patients with Guillain-Barré syndrome diagnosed at the Centre Hospitalier de Polynésie Française (Papeete, Tahiti, French Polynesia) during the outbreak period. Controls were age-matched, sex-matched, and residence-matched patients who presented at the hospital with a non-febrile illness (control group 1; n=98) and age-matched patients with acute Zika virus disease and no neurological symptoms (control group 2; n=70). Virological investigations included RT-PCR for Zika virus, and both microsphere immunofluorescent and seroneutralisation assays for Zika virus and dengue virus. Anti-glycolipid reactivity was studied in patients with Guillain-Barré syndrome using both ELISA and combinatorial microarrays. 42 patients were diagnosed with Guillain-Barré syndrome during the study period. 41 (98%) patients with Guillain-Barré syndrome had anti-Zika virus IgM or IgG, and all (100%) had neutralising antibodies against Zika virus compared with 54 (56%) of 98 in control group 1 (pZika virus IgM and 37 (88%) had experienced a transient illness in a median of 6 days (IQR 4-10) before the onset of neurological symptoms, suggesting recent Zika virus infection. Patients with Guillain-Barré syndrome had electrophysiological findings compatible with acute motor axonal neuropathy (AMAN) type, and had rapid evolution of disease (median duration of the installation and plateau phases was 6 [IQR 4-9] and 4 days [3-10], respectively). 12 (29%) patients required respiratory assistance. No patients died. Anti-glycolipid antibody activity was found in 13

  12. Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

    International Nuclear Information System (INIS)

    Calandrelli, Rosalinda; D'Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare; Massimi, Luca; Di Rocco, Concezio

    2014-01-01

    This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

  13. Referential communication abilities in children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Van Den Heuvel, Ellen; ReuterskiöLd, Christina; Solot, Cynthia; Manders, Eric; Swillen, Ann; Zink, Inge

    2017-10-01

    This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication. The utterances of children with 22q11.2DS were characterised as short and simple in lexical and grammatical terms. However, from a language use perspective, their utterances were verbose, ambiguous and irrelevant given the pictured scenes. They tended to elaborate on visual details and conveyed off-topic, extraneous information when participating in a barrier-game procedure. Both types of aberrant utterances forced a listener to consistently infer the intended message. Moreover, children with 22q11.2DS demonstrated difficulty selecting correct speech acts in accordance with contextual cues during a role-taking task. Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

  14. Diagnostic value of prostate-specific antigen in women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Farahnaz Mardanian

    2011-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is the most common endocrine disorder in women. Its presentation is that of irregular menstruation associated with ovulation defects. Because of adverse outcomes such as metabolic and cardiovascular disorders, its diagnosis and treatment is very important. Therefore, the diagnostic value of prostatespecific antigen (PSA in women with polycystic ovary syndrome was evaluated. Methods: A total of 32 women with PCOS and 32 aged matched healthy females were recruited in this case-control study. The subjects were compared by means of metabolic measures and serum PSA level. The correlations between these markers were evaluated. Sensitivity and specificity values and cut off levels of PSA were established for diagnosis of PCOS. Results: Mean PSA, Ferriman Gallwey score (FGS, luteinizing hormone/follicle stimulating hormone ratio (LH/FSH, testosterone, dehydroepiandrosterone sulfate (DHEAS, 17α hydroxyprogesterone (17α HP levels were significantly higher in PCOS (P<0.001, respectively. PSA levels greater than 0.07 ng/ml yielded a sensitivity of 91% and specificity of 82%, and was helpful as a diagnostic tool for women with PCOS. Circulating androgens and hirsutism were associated with higher levels of PSA in PCOS women. Conclusions: Our results showed direct correlation between PSA, hirsutism and hyperandrogemsm state. Therefore, it seems logical to use PSA level for detection of hyperandrogemsm state in women.

  15. Altered resting-state functional connectivity in women with chronic fatigue syndrome.

    Science.gov (United States)

    Kim, Byung-Hoon; Namkoong, Kee; Kim, Jae-Jin; Lee, Seojung; Yoon, Kang Joon; Choi, Moonjong; Jung, Young-Chul

    2015-12-30

    The biological underpinnings of the psychological factors characterizing chronic fatigue syndrome (CFS) have not been extensively studied. Our aim was to evaluate alterations of resting-state functional connectivity in CFS patients. Participants comprised 18 women with CFS and 18 age-matched female healthy controls who were recruited from the local community. Structural and functional magnetic resonance images were acquired during a 6-min passive-viewing block scan. Posterior cingulate cortex seeded resting-state functional connectivity was evaluated, and correlation analyses of connectivity strength were performed. Graph theory analysis of 90 nodes of the brain was conducted to compare the global and local efficiency of connectivity networks in CFS patients with that in healthy controls. The posterior cingulate cortex in CFS patients showed increased resting-state functional connectivity with the dorsal and rostral anterior cingulate cortex. Connectivity strength of the posterior cingulate cortex to the dorsal anterior cingulate cortex significantly correlated with the Chalder Fatigue Scale score, while the Beck Depression Inventory (BDI) score was controlled. Connectivity strength to the rostral anterior cingulate cortex significantly correlated with the Chalder Fatigue Scale score. Global efficiency of the posterior cingulate cortex was significantly lower in CFS patients, while local efficiency showed no difference from findings in healthy controls. The findings suggest that CFS patients show inefficient increments in resting-state functional connectivity that are linked to the psychological factors observed in the syndrome. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. Diurnal changes of blood pressure values (24 h blood pressures in women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Barbara Grzechocińska

    2011-06-01

    Full Text Available Background: More attention is being paid lately to polycystic ovary syndrome (PCOS not only in the aspect of fertility but also according to long-term metabolic and cardiovascular abnormalities. Observations of women with PCOS show that the occurrence of blood hypertension is more frequent after the menopause. There are few articles concerning the predictable symptoms of blood hypertension. It seems that twenty-four hour blood pressure monitoring and assessment of changes of diurnal rhythm could be useful in this group of patients.Aim of the study: The purpose of this study was to assess diurnal changes of blood pressure in women with polycystic ovary syndrome.Material and methods: 26 women with PCOS diagnosed according to Rotterdam consensus criteria and Androgen Excess Society (AES criteria were included in our study. The mean age of the examined women was 29.5 years and the mean BMI (body mass index was 24.7 kg/m2. The control group consisted of 12 age-matched women, without PCOS. Twenty-four hour Holter monitoring of ambulatory blood pressure was performed during normal daily activity in all patients. Halberg’s cosinor method was used to analyse daily biorhythm.Results: Results show the diurnal changes of systolic blood pressure in the preclinical phase in 30% and diastolic in 15% of PCOS women. In this group no physiological decrease of blood pressure at night time was observed.

  17. Concurrent Relations between Face Scanning and Language: A Cross-Syndrome Infant Study.

    Directory of Open Access Journals (Sweden)

    Dean D'Souza

    Full Text Available Typically developing (TD infants enhance their learning of spoken language by observing speakers' mouth movements. Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, we hypothesized that this delay partly results from differences in visual face scanning, e.g., focusing attention away from the mouth. To test this hypothesis, we used an eye tracker to measure visual attention in 95 infants and toddlers with Down syndrome (DS, fragile X syndrome (FXS, and Williams syndrome (WS, and compared their data to 25 chronological- and mental-age matched 16-month-old TD controls. We presented participants with two talking faces (one on each side of the screen and a sound (/ga/. One face (the congruent face mouthed the syllable that the participants could hear (i.e., /ga/, while the other face (the incongruent face mouthed a different syllable (/ba/ from the one they could hear. As expected, we found that TD children with a relatively large vocabulary made more fixations to the mouth region of the incongruent face than elsewhere. However, toddlers with FXS or WS who had a relatively large receptive vocabulary made more fixations to the eyes (rather than the mouth of the incongruent face. In DS, by contrast, fixations to the speaker's overall face (rather than to her eyes or mouth predicted vocabulary size. These findings suggest that, at some point in development, different processes or strategies relating to visual attention are involved in language acquisition in DS, FXS, and WS. This knowledge may help further explain why language is delayed in children with neurodevelopmental disorders. It also raises the possibility that syndrome-specific interventions should include an early focus on efficient face-scanning behaviour.

  18. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

    International Nuclear Information System (INIS)

    Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

    2017-01-01

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

  19. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, Raoul [University Medical Center Heidelberg, Department of Congenital Heart Disease and Pediatric Cardiology, Heidelberg (Germany); Neu, Marie [University Medical Center, Department of Pediatric Hematology/Oncology/Hemostaseology, Mainz (Germany); Hirtler, Daniel [University of Freiburg, Department of Congenital Heart Defects and Pediatric Cardiology, Heart Center, Freiburg im Breisgau (Germany); Gimpel, Charlotte [Center for Pediatrics, Medical Center - University of Freiburg, Department of General Pediatrics, Adolescent Medicine and Neonatology, Freiburg im Breisgau (Germany); Markl, Michael [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); Northwestern University, Department of Biomedical Engineering, McCormick School of Engineering, Chicago, IL (United States); Geiger, Julia [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); University Children' s Hospital, Department of Radiology, Zuerich (Switzerland)

    2017-04-15

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

  20. Patterns of structural reorganization of the corticospinal tract in children with Sturge-Weber syndrome.

    Science.gov (United States)

    Kamson, David O; Juhász, Csaba; Shin, Joseph; Behen, Michael E; Guy, William C; Chugani, Harry T; Jeong, Jeong-Won

    2014-04-01

    Reorganization of the corticospinal tract after early damage can limit motor deficit. In this study, we explored patterns of structural corticospinal tract reorganization in children with Sturge-Weber syndrome. Five children (age 1.5-7 years) with motor deficit resulting from unilateral Sturge-Weber syndrome were studied prospectively and longitudinally (1-2 years follow-up). Corticospinal tract segments belonging to hand and leg movements were separated and their volume was measured by diffusion tensor imaging tractography using a recently validated method. Corticospinal tract segmental volumes were normalized and compared between the Sturge-Weber syndrome children and age-matched healthy controls. Volume changes during follow-up were also compared with clinical motor symptoms. In the Sturge-Weber syndrome children, hand-related (but not leg-related) corticospinal tract volumes were consistently decreased in the affected cerebral hemisphere at baseline. At follow-up, two distinct patterns of hand corticospinal tract volume changes emerged. (1) Two children with extensive frontal lobe damage showed a corticospinal tract volume decrease in the lesional hemisphere and a concomitant increase in the nonlesional (contralateral) hemisphere. These children developed good hand grasp but no fine motor skills. (2) The three other children, with relative sparing of the frontal lobe, showed an interval increase of the normalized hand corticospinal tract volume in the affected hemisphere; these children showed no gross motor deficit at follow-up. Diffusion tensor imaging tractography can detect differential abnormalities in the hand corticospinal tract segment both ipsi- and contralateral to the lesion. Interval increase in the corticospinal tract hand segment suggests structural reorganization, whose pattern may determine clinical motor outcome and could guide strategies for early motor intervention. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  2. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  3. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  4. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  5. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  6. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  7. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  8. A seizuring alagille syndrome

    Directory of Open Access Journals (Sweden)

    Jomon Mathew John

    2017-01-01

    Full Text Available Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

  9. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  10. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  11. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  12. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  13. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

    ... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

  14. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  15. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  16. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  17. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  18. Lesch-Nyhan Syndrome

    Science.gov (United States)

    ... National Organization for Rare Disorders (NORD) Purine Research Society See all related organizations Publications Order NINDS Publications Definition Lesch-Nyhan syndrome (LNS) is a rare, inherited ...

  19. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  20. Fragile X syndrome

    Science.gov (United States)

    ... problems, or intellectual disability may not be present. Symptoms Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand flapping ...

  1. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  2. Cushing's syndrome in pregnancy.

    Science.gov (United States)

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

    2015-02-01

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

  3. Central Pain Syndrome

    Science.gov (United States)

    ... such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. View Full Treatment Information Definition Central pain syndrome is a neurological condition caused ...

  4. Vitamin D levels and effects of vitamin D replacement in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

    Science.gov (United States)

    Stagi, Stefano; Bertini, Federico; Rigante, Donato; Falcini, Fernanda

    2014-06-01

    The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is an autoinflammatory disease characterized by regularly recurrent fever episodes due to seemingly unprovoked inflammation. To assess serum 25-hydroxyvitamin D [25(OH)D] concentrations in children with PFAPA syndrome and evaluate longitudinally the effect of wintertime vitamin D supplementation on the disease course. We have evaluated 25 Italian patients (19 males, 6 females, aged 2.4-5.3 years), fulfilling the Euro-Fever PFAPA criteria. For each patient, we recorded demographic and anthropometric data, clinical manifestations, serum calcium, phosphate, and 25(OH)D. After 400 IU vitamin D supplementation during wintertime, clinical and auxological characteristics, calcium, phosphate, and 25(OH)D levels were re-evaluated. Data were compared with a sex- and age-matched control group. PFAPA patients showed reduced 25(OH)D levels than controls (pchildren with PFAPA syndrome, and hypovitaminosis D might be a significant risk factor for PFAPA flares. However, vitamin D supplementation seems to significantly reduce the typical PFAPA episodes and their duration, supporting the role of vitamin D as an immune-regulatory factor in this syndrome. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  5. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  6. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  7. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis Plus Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Enzo Vicari

    2017-11-01

    Full Text Available This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS plus diarrhoea-predominant irritable bowel syndrome (D-IBS compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75 received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI, and performed at the start of therapy (V0 and three months after (V3. In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05 decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1. Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS after prostate massage significantly lowered only in IIIa cases.

  8. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    Science.gov (United States)

    Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75) received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS) and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI), and performed at the start of therapy (V0) and three months after (V3). In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05) decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1). Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS) after prostate massage significantly lowered only in IIIa cases. PMID:29099760

  9. Cyclists Have Greater Chondromalacia Index Than Age-Matched Controls at the Time of Hip Arthroscopy.

    Science.gov (United States)

    Stone, Austin V; Howse, Elizabeth A; Mannava, Sandeep; Stubbs, Allston J

    2016-10-01

    To evaluate the clinical symptoms and intraoperative pathology associated with hip pain in the cyclist compared with a matched hip arthroscopy surgical group. In an institutional review board-approved study, we retrospectively reviewed a prospective database of 1,200 consecutive hip arthroscopy patients from 2008 to 2015. Adult patients were identified who reported cycling as a major component of their activity. Patients were age, gender, and body mass index matched to a control, noncycling group. Pain symptoms, preoperative examinations, radiographic and operative findings were compared. Primary outcome variables included the femoral and acetabular Outerbridge chondromalacia grade. Additional outcome measurements included the involved area and the chondromalacia index (CMI; the product of the Outerbridge chondromalacia grade and surface area [mm 2  × severity]). A total of 167 noncyclists were matched to the cycling group (n = 16). Cyclists had significantly greater femoral head chondromalacia grade (2.0 [95% confidence interval (CI), 1.5-2.5] v 1.4 [95% CI, 1.3-1.6], P = .043), femoral head chondromalacia area (242 mm 2 [95% CI, 191-293 mm 2 ] v 128 mm 2 [95% CI, 113-141 mm 2 ], P chondromalacia than a matched group of noncyclists. Cycling activity positively correlated with the presence of femoral chondromalacia with clinically significant gait alterations. These data support the hypothesis that cyclists with hip pain have more chondral pathology than a similar group of other patients with hip pain. Ultimately, cyclists with hip pain should be identified as higher risk for more advanced chondral damage. Level III, case-control study, therapeutic. Copyright © 2016 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

  10. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  11. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  12. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  13. Pig major acute-phase protein and haptoglobin serum concentrations correlate with PCV2 viremia and the clinical course of postweaning multisystemic wasting syndrome

    DEFF Research Database (Denmark)

    Grau-Roma, Llorenc; Heegaard, Peter M. H.; Hjulsager, Charlotte Kristiane

    2009-01-01

    -PMWS affected pigs. In addition, evidence of infection with other pathogens and its relation with variations in APP's concentrations was also assessed. Fourteen independent batches of 100 to 154 pigs were monitored from birth to PMWS outbreak occurrence in 11 PMWS affected farms. Pigs displaying PMWS-like signs......The aim of the present longitudinal study was to assess the evolution of two acute phase proteins (APPs), pig-major acute phase protein (pig-MAP) and haptoglobin (HPT), in serum from pigs that developed postweaning multisystemic wasting syndrome (PMWS) in comparison to healthy and wasted non...... and age-matched healthy controls were euthanized during the clinical outbreak. PMWS was diagnosed according to internationally accepted creteria and pigs were classified as: i)PMWS cases, ii) wasted non-PMWS cases and iii) healthy pigs. At the moment of PMWS occurrence, pig-MAP and HPT concentration...

  14. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... 4 months later, my father walked me down the aisle. We danced to a Beatles song & then to j… Connect on Instagram Email: info@alportsyndrome.org Phone: (480) 800-3510 Mailing Address: Alport syndrome Foundation P.O. Box 4130 ... 5, 2017 Cecil Alport: Naming the Syndrome November 26, 2016 The Renal Diet: Potassium ...

  15. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  16. Post-Polio Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Post-Polio Syndrome Information Page Post-Polio Syndrome Information Page What research is being done? ... behavior of motor neurons many years after a polio attack. Others are looking at the mechanisms of ...

  17. Klippel-Feil Syndrome

    Science.gov (United States)

    ... proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized ... proteins that are involved in bone development and segmentation of the vertebrae. View Full Definition ... Treatment Treatment for Klippel-Feil Syndrome is symptomatic ...

  18. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

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

  19. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  20. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  1. International Rett Syndrome Foundation

    Science.gov (United States)

    ... state Rett Syndrome Handbook Called the “Rett Syndrome Bible”, all the information you need for your journey- available in PDF version. Purchase a hard copy Get 1:1 Support Connect with our Family Empowerment Team , join a special interest network More forms of support Find your Family Empowerment ...

  2. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-01-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  3. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

    Full Text Available We report a case of 29-year-old man who presented with cutaneous vasculitis and was subsequently diagnosed as a case of Churg-Strauss syndrome. The patient fulfilled five out of the six criteria of the syndrome developed by American College of Rheumatology.

  4. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  5. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  6. Shaken Baby Syndrome

    Science.gov (United States)

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  7. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

  8. Foix-Chavany syndrome

    International Nuclear Information System (INIS)

    Ferrari, G.; Boninsegna, C.; Beltramello, A.

    1979-01-01

    The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized. (orig.) [de

  9. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth

    2016-01-01

    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

  10. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  11. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  12. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  13. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

    O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.

    1980-01-01

    Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de

  14. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  15. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  16. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  17. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  18. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  19. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  20. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  1. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  2. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    Parkash, J.; Salat, S. M.; Khan, I.A.

    2006-01-01

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  3. Circulating microRNAs in patients with Shiga-Toxin-producing E. coli O104:H4 induced hemolytic uremic syndrome.

    Directory of Open Access Journals (Sweden)

    Johan M Lorenzen

    Full Text Available BACKGROUND: In early May 2011, an outbreak of hemorrhagic colitis associated with hemolytic-uremic syndrome (HUS first developed in Northern Germany and spread to 15 other countries in Europe. The outbreak-strain O104:H4, which combined virulence factors of typical enteroaggregative and Shiga-Toxin-producing E. coli was associated with an unusual high rate of hemolytic uremic syndrome. Also an unexpected high rate of coma and seizures leading to mechanical ventilation and ICU treatment was observed. MicroRNAs are small ribonucleotides orchestrating gene expression. We tested whether circulating microRNAs in serum of HUS patients during the 2011 epidemics are altered in this patient cohort and related to clinical manifestations. METHODOLOGY/PRINCIPAL FINDINGS: We profiled microRNAs using RNA isolated from serum of patients and healthy age-matched controls. The results were validated in 38 patients at baseline, 29 patients during follow-up and 21 age-matched healthy controls by miRNA-specific quantitative RT-PCR. Circulating levels of miR-24, miR-126 were increased in HUS patients versus controls. There was no association between these microRNAs and renal function or the need for renal replacement therapy. In contrast, levels of miR-126 were associated with neurological symptoms at baseline and during follow-up. In addition, miR-126 (on admission and miR-24 (on admission and during follow-up were associated with platelet count. CONCLUSIONS/SIGNIFICANCE: Circulating microRNAs are strongly altered in this patient cohort and associated with neurological symptoms as well as platelet count.

  4. Cumulative live-birth rate in women with polycystic ovary syndrome or isolated polycystic ovaries undergoing in-vitro fertilisation treatment.

    Science.gov (United States)

    Li, Hang Wun Raymond; Lee, Vivian Chi Yan; Lau, Estella Yee Lan; Yeung, William Shu Biu; Ho, Pak Chung; Ng, Ernest Hung Yu

    2014-02-01

    This retrospective cohort study evaluated the cumulative live birth rate in women with polycystic ovary syndrome (PCOS) and isolated polycystic ovaries (PCO) undergoing in-vitro fertilisation (IVF) treatment. We studied 104 women with PCOS, 184 with PCO and 576 age-matched controls undergoing the first IVF treatment cycle between 2002 and 2009. The main outcome measure was cumulative live birth in the fresh plus all the frozen embryo transfers combined after the same stimulation cycle. Women in both the PCOS (n = 104) and isolated PCO groups (n = 184) had higher ovarian response parameters compared to age-matched controls (n = 576), and higher rates of withholding fresh embryo transfer for risk of ovarian hyperstimulation syndrome (OHSS). The actual incidence of moderate to severe OHSS was significantly higher in the PCOS (11.5 %) but not the isolated PCO group (8.2%) compared to controls (4.9%). The live birth rates in the fresh cycle were comparable among the 3 groups, but the PCOS group had a significantly higher miscarriage rate compared to the other 2 groups. Cumulative live birth rate was significantly higher in the isolated PCO group (60.3%), but not the PCOS group (50.0%), compared to controls (47.5%). Women in the isolated PCO group, but not the PCOS group, had a significantly higher cumulative live birth rate compared to controls. This could be explained by the quantitative effect of the higher number of transferable embryos obtained per stimulation cycle, which is uncompromised by the unfavourable embryo competence otherwise observed in PCOS.

  5. Syndrome in question: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

  6. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  7. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  8. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  9. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  10. Sjögren syndrome

    Science.gov (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

  11. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  12. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  13. Postprandial Monocyte Activation in Individuals With Metabolic Syndrome

    Science.gov (United States)

    Khan, Ilvira M.; Pokharel, Yashashwi; Dadu, Razvan T.; Lewis, Dorothy E.; Hoogeveen, Ron C.; Wu, Huaizhu

    2016-01-01

    Context: Postprandial hyperlipidemia has been suggested to contribute to atherogenesis by inducing proinflammatory changes in monocytes. Individuals with metabolic syndrome (MS), shown to have higher blood triglyceride concentration and delayed triglyceride clearance, may thus have increased risk for development of atherosclerosis. Objective: Our objective was to examine fasting levels and effects of a high-fat meal on phenotypes of monocyte subsets in individuals with obesity and MS and in healthy controls. Design, Setting, Participants, Intervention: Individuals with obesity and MS and gender- and age-matched healthy controls were recruited. Blood was collected from participants after an overnight fast (baseline) and at 3 and 5 hours after ingestion of a high-fat meal. At each time point, monocyte phenotypes were examined by multiparameter flow cytometry. Main Outcome Measures: Baseline levels of activation markers and postprandial inflammatory response in each of the three monocyte subsets were measured. Results: At baseline, individuals with obesity and MS had higher proportions of circulating lipid-laden foamy monocytes than controls, which were positively correlated with fasting triglyceride levels. Additionally, the MS group had increased counts of nonclassical monocytes, higher CD11c, CX3CR1, and human leukocyte antigen-DR levels on intermediate monocytes, and higher CCR5 and tumor necrosis factor-α levels on classical monocytes in the circulation. Postprandial triglyceride increases in both groups were paralleled by upregulation of lipid-laden foamy monocytes. MS, but not control, subjects had significant postprandial increases of CD11c and percentages of IL-1β+ and tumor necrosis factor-α+ cells in nonclassical monocytes. Conclusions: Compared to controls, individuals with obesity and MS had increased fasting and postprandial monocyte lipid accumulation and activation. PMID:27575945

  14. Association of DNA damage and dyslipidemia with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Manikkumar R

    2013-02-01

    Full Text Available Polycystic ovary syndrome (PCOS is associated with hyperinsuli-nemia and insulin resistance which may lead to cardiovascular diseases. Evidence for cardiovascular events in women who were affected by PCOS during fertile age is limited. The pathogenesis is unknown; however, it is a complex multigenetic disorder. The present study was undertaken to evaluate the various cardiovas-cular risk factors and their DNA repair efficiency in women with PCOS by investigating the biochemical, endocrinological and mo-lecular cytogenetic alterations. These investigations were carried out in 116 women in the age group of 15-35 years clinically diag-nosed with PCOS. Data were compared with that of 50 age-matched healthy normal women. Fasting blood sugar (FBS, Lipid profile, Follicle-Stimulating Hormone (FSH and Luteinizing Hor-mone (LH, Prolactin and Estradiol were estimated after getting the informed consent. Mutagen induced chromosome sensitivity analysis was carried out in the lymphocytes of the subjects to as-sess the DNA repair proficiency. Fasting Blood Sugar, total cho-lesterol and LDL cholesterol were found to be elevated whereas HDL cholesterol was found to be lowered in the test subjects. FSH, LH and prolactin were also found to be significantly elevated in the test subjects. Change in the estradiol concentration in the test subjects was not significant. The mutagen sensitivity analysis revealed a significant elevation in break per cell (b/c values indi-cating a deficiency in the DNA repair mechanism / DNA damage in PCOS patients. Modification of life style by changing the dietary habit and sedentary life style will help to reduce the oxidative stress and may increase the ovarian function and a sensible life-style management is recommended for reducing the risk for CVD.

  15. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Stagi

    2016-01-01

    Full Text Available Objective. Klinefelter syndrome (KS has long-term consequences on bone health. However, studies regarding bone status and metabolism during childhood and adolescence are very rare. Patients. This cross-sectional study involved 40 (mean age: 13.7±3.8 years KS children and adolescents and 80 age-matched healthy subjects. For both patient and control groups, we evaluated serum levels of ionised and total calcium, phosphate, total testosterone, luteinising hormone, follicle stimulating hormone, parathyroid hormone (PTH, 25-hydroxyvitamin D (25(OHD, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase, and urinary deoxypyridinoline concentrations. We also calculated the z-scores of the phalangeal amplitude-dependent speed of sound (AD-SoS and the bone transmission time (BTT. Results. KS children and adolescents showed significantly reduced AD-SoS (p<0.005 and BTT (p<0.0005 z-scores compared to the controls. However, KS patients presented significantly higher PTH (p<0.0001 and significantly lower 25(OHD (p<0.0001, osteocalcin (p<0.05, and bone alkaline phosphatase levels (p<0.005. Interestingly, these metabolic bone disorders were already present in the prepubertal subjects. Conclusions. KS children and adolescents exhibited impaired bone mineral status and metabolism with higher PTH levels and a significant reduction of 25-OH-D and bone formation markers. Interestingly, this impairment was already evident in prepubertal KS patients. Follow-ups should be scheduled with KS patients to investigate and ameliorate bone mineral status and metabolism until the prepubertal ages.

  16. Allocentric spatial learning and memory deficits in Down syndrome.

    Directory of Open Access Journals (Sweden)

    Pamela A Banta Lavenex

    2015-02-01

    Full Text Available Studies have shown that persons with Down Syndrome (DS exhibit relatively poor language capacities, and impaired verbal and visuoperceptual memory, whereas their visuospatial memory capacities appear comparatively spared. Individuals with DS recall better where an object was previously seen than what object was previously seen. However, most of the evidence concerning preserved visuospatial memory comes from tabletop or computerized experiments which are biased towards testing egocentric (viewpoint-dependent spatial representations. Accordingly, allocentric (viewpoint-independent spatial learning and memory capacities may not be necessary to perform these tasks. Thus, in order to more fully characterize the spatial capacities of individuals with DS, allocentric processes underlying real-world navigation must also be investigated. We tested 20 participants with DS and 16 mental age-matched, typically developing (TD children in a real-world, allocentric spatial memory task. During local cue (LC trials, participants had to locate three rewards marked by local color cues, among 12 locations distributed in a 4 m X 4 m arena. During allocentric spatial (AS trials, participants had to locate the same three rewards, in absence of local cues, based on their relations to distal environmental cues. All TD participants chose rewarded locations in LC and AS trials at above chance level. In contrast, although all but one of the participants with DS exhibited a preference for the rewarded locations in LC trials, only 50% of participants with DS chose the rewarded locations at above chance level in AS trials. As a group, participants with DS performed worse than TD children on all measures of task performance. These findings demonstrate that individuals with DS are impaired at using an allocentric spatial representation to learn and remember discrete locations in a controlled environment, suggesting persistent and pervasive deficits in hippocampus

  17. Longitudinal Associations between Posttraumatic Stress Disorder and Metabolic Syndrome Severity

    Science.gov (United States)

    Wolf, Erika J.; Bovin, Michelle J.; Green, Jonathan D.; Mitchell, Karen S.; Stoop, Tawni B.; Barretto, Kenneth M.; Jackson, Colleen E.; Lee, Lewina O.; Fang, Shona C.; Trachtenberg, Felicia; Rosen, Raymond C.; Keane, Terence M.; Marx, Brian P.

    2016-01-01

    Background Posttraumatic stress disorder (PTSD) is associated with elevated risk for metabolic syndrome (MetS). However, the direction of this association is not yet established, as most prior studies employed cross-sectional designs. The primary goal of this study was to evaluate bidirectional associations between PTSD and MetS using a longitudinal design. Methods 1,355 male and female veterans of the conflicts in Iraq and Afghanistan underwent PTSD diagnostic assessments and their biometric profiles pertaining to MetS were extracted from the electronic medical record at two time points (spanning ~2.5 years, n = 971 at time 2). Results The prevalence of MetS among veterans with PTSD was just under 40% at both time points and was significantly greater than that for veterans without PTSD; the prevalence of MetS among those with PTSD was also elevated relative to age-matched population estimates. Cross-lagged panel models revealed that PTSD severity predicted subsequent increases in MetS severity (β = .08, p = .002), after controlling for initial MetS severity, but MetS did not predict later PTSD symptoms. Logistic regression results suggested that for every 10 PTSD symptoms endorsed at time 1, the odds of a subsequent MetS diagnosis increased by 56%. Conclusions Results highlight the substantial cardiometabolic concerns of young veterans with PTSD and raise the possibility that PTSD may predispose individuals to accelerated aging, in part, manifested clinically as MetS. This demonstrates the need to identify those with PTSD at greatest risk for MetS and to develop interventions that improve both conditions. PMID:27087657

  18. Relationship of Polycystic Ovarian Syndrome with Cardiovascular Risk Factors.

    Science.gov (United States)

    Bilal, Muhammad; Haseeb, Abdul; Rehman, Abdur

    2018-05-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder affecting women of reproductive age. The two main documented pathogenic mechanisms are hyperinsulinemia and hyperandrogenemia but there is growing evidence for increased predisposition to cardiovascular disease, dyslipidemia, and type 2 diabetes mellitus. Our study aims to analyze the association of PCOS with cardiovascular risk factors. This is a prospective study which targeted 100 PCOS patients from Civil Hospital Karachi over a period of one year (July 2016 to July 2017). An equal number of age-matched healthy control participants were also included in the study. The student's t-test was used to assess the significance of differences using SPSS version (19). The statistical significance was set at a p-value of PCOS was primary infertility seen in 72% of the patients. Mean arterial pressure, fasting glucose and insulin levels and insulin resistance was found to be significantly different in PCOS patients as compared to their controls. A classic atherosclerotic lipid profile demonstrating elevated total cholesterol and low-density lipoprotein-C (LDL-C) levels and decreased serum high density lipoprotein-C(HDL-C) was observed in our study. This study established a significant yet independent association of PCOS with major cardiovascular risk factors. This association can effectively progress into CVD outcomes which necessitates early intervention programs and preventative strategies to reduce mortality from cardiovascular events. This study lays out the framework for conducting further researches on the PCOS women while exploring novel cardiovascular risk factors. Copyright © 2018 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  19. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

    Science.gov (United States)

    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  20. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  1. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  2. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  3. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  4. [Norrie syndrome (author's transl)].

    Science.gov (United States)

    Schmitz-Valckenberg, P; Scholz, W

    1977-10-01

    The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

  5. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  6. Noonan′s Syndrome

    Directory of Open Access Journals (Sweden)

    Yesudian P Devakar

    1995-01-01

    Full Text Available Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears. A 15 year old male presented with features of Noonan’s syndrome with hypertelorism, cryptorchidism, low hairline, large and low set ears, curly hair, pulmonary stenosis and lentigenes. This case is presented to alert the physicians towards the occurrence of lentigenes, characteristic facies and pulmonary stenosis in the syndrome. A few hitherto unreported associations like macrothelia and high arched palate were also seen.

  7. [Refeeding syndrome: practical issues].

    Science.gov (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  8. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  9. Bouveret's Syndrome: diagnostic considerations

    International Nuclear Information System (INIS)

    Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

    1987-01-01

    Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

  10. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  11. Lance-adams syndrome.

    Science.gov (United States)

    Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun; Yoon, Chul Ho

    2012-08-01

    It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.

  12. Radiology of syndromes

    International Nuclear Information System (INIS)

    Taybi, H.

    1982-01-01

    In the course of 20 years, the author has investigated the radiological aspects of many different syndromes. 541 of them are listed in this book, together with their typical X-ray pictures. Congenital deformities, genetic diseases, and acquired diseases with typical combinations of sigs and symptoms are presented with information on how to identify them. Clinical manifestations are briefly characterized, and hereditary aspects are mentioned. Pathological characteristics and names of the syndromes are presented. A bibliography is given for every syndrome for those who intend to deepen their knowledge. (orig./MG) [de

  13. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil

    2016-01-01

    Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

  14. Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention.

    Science.gov (United States)

    Jacola, Lisa M; Hickey, Francis; Howe, Steven R; Esbensen, Anna; Shear, Paula K

    2014-01-01

    Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2 nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4 th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living ( Adj R 2 = 0.30) , Leadership ( Adj R 2 = 0.30) Functional Communication ( Adj R 2 = 0.28, Adaptability ( Adj R 2 = 0.29), and Social Skills ( Adj R 2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Our results confirm and extend previous findings by describing relationships between specific behavior problems and targeted areas of

  15. Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention

    Science.gov (United States)

    Jacola, Lisa M.; Hickey, Francis; Howe, Steven R.; Esbensen, Anna; Shear, Paula K.

    2016-01-01

    Background Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Methods Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. Results A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living (Adj R2 = 0.30), Leadership (Adj R2 = 0.30) Functional Communication (Adj R2 = 0.28, Adaptability (Adj R2 = 0.29), and Social Skills (Adj R2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Conclusion Our results confirm and extend previous findings by describing relationships between specific behavior problems

  16. Acute heart failure syndrome

    African Journals Online (AJOL)

    and the classical syndrome of chronic persistent heart failure develops. The vast ... Flash pulmonary oedema: This is a severely elevated blood pressure with an .... (CPAP or bilevelNPPV) for cardiogenic pulmonary edema (review). Cochrane.

  17. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  18. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...

  19. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  20. Tropical Diabetic Hand Syndrome

    African Journals Online (AJOL)

    2015 Annals of Medical and Health Sciences Research | Published by Wolters Kluwer - Medknow. 473. Introduction ... diabetes.[2,3] Tropical diabetic hand syndrome is a terminology .... the importance of seeking medical attention immediately.

  1. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

    2009-01-01

    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

  2. Acute Coronary Syndrome

    Science.gov (United States)

    ... heart cells are dying. An electrocardiogram (ECG or EKG) can diagnose an acute coronary syndrome by measuring ... Privacy Policy Popular Articles 1 Understanding Blood Pressure Readings 2 Sodium and Salt 3 Heart Attack Symptoms ...

  3. Narcolepsy and ROHHAD Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-11-01

    Full Text Available Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7-year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome.

  4. Narcolepsy and ROHHAD Syndrome

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7-year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome).

  5. Ehlers- Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Prasanta Basak

    1989-01-01

    Full Text Available A female patient had Ehlers-Danlos syndrome type II since infancy, manifesting with hyperextensible skin and ciagarette paper scars at the sites of trauma. Treatment with vitamin C 1 gm a day seemed to be useful.

  6. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  7. Dandy-Walker Syndrome

    Science.gov (United States)

    ... treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome. × What research is being ...

  8. Stuttering and Tourette's Syndrome

    Science.gov (United States)

    ... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...

  9. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... role in who we are — including deciding our gender, how we look, and how we grow. Doctors ... boys with Klinefelter syndrome are less interested in sports or physical activities. Since high-school life often ...

  10. Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Priya Shirish Joshi

    2012-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31 and loss or mutations of human patched gene (PTCH1 gene. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

  11. Exploding head syndrome.

    Science.gov (United States)

    Sharpless, Brian A

    2014-12-01

    Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up. They are usually painless, but associated with fear and distress. In spite of the fact that its characteristic symptomatology was first described approximately 150 y ago, exploding head syndrome has received relatively little empirical and clinical attention. Therefore, a comprehensive review of the scientific literature using Medline, PsycINFO, Google Scholar, and PubMed was undertaken. After first discussing the history, prevalence, and associated features, the available polysomnography data and five main etiological theories for exploding head syndrome are summarized. None of these theories has yet reached dominance in the field. Next, the various methods used to assess and treat exploding head syndrome are discussed, as well as the limited outcome data. Finally, recommendations for future measure construction, treatment options, and differential diagnosis are provided. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Cardiopulmonary Syndrome Overview

    Science.gov (United States)

    ... Data Conducting Clinical Trials Statistical Tools and Data Terminology Resources NCI Data Catalog Cryo-EM NCI's Role ... cava syndrome in a child is a serious medical emergency because the child's windpipe can become blocked. ...

  13. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Syndrome Diagnostic Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift ... data It’s easy to join There is no cost to you: the costs are supported by the ...

  14. Cri du chat syndrome

    Science.gov (United States)

    ... the ear Slow or incomplete development of motor skills Small head ( microcephaly ) Small jaw ( micrognathia ) Wide-set ... of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less ...

  15. Stevens-Johnson Syndrome

    Science.gov (United States)

    ... after blisters form If you have Stevens-Johnson syndrome, several days before the rash develops you may experience: Fever Sore mouth and throat Fatigue Cough Burning eyes When to see a doctor Stevens-Johnson ...

  16. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  17. Computer Vision Syndrome.

    Science.gov (United States)

    Randolph, Susan A

    2017-07-01

    With the increased use of electronic devices with visual displays, computer vision syndrome is becoming a major public health issue. Improving the visual status of workers using computers results in greater productivity in the workplace and improved visual comfort.

  18. Esthesioneuroblastoma in Maffucci's syndrome

    International Nuclear Information System (INIS)

    Kurian, Sobha; Crowell, Edward B.; Ertan, Esmer; Rassekh, Christopher; Ducatman, Barbara

    2004-01-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  19. Blind loop syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001146.htm Blind loop syndrome To use the sharing features on ... Clinical Professor of Medicine, The George Washington University School of Medicine, Washington, DC. Also reviewed by David ...

  20. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...