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Sample records for syndrome patients determined

  1. Determinants of plasma homocyst(e)ine in patients with nephrotic syndrome.

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    Joven, J; Arcelús, R; Camps, J; Ordóñez-Llanos, J; Vilella, E; González-Sastre, F; Blanco-Vaca, F

    2000-01-01

    Hyperhomocyst(e)inemia is an independent risk factor for atherothrombosis in several clinical settings in which renal function is impaired, but its prevalence in the nephrotic syndrome has not been investigated in detail, even though this syndrome provides an excellent model in which to study a possible link between albuminuria, proteinuria, and hyperhomocyst(e)inemia. We obtained plasma and urine from 27 patients with biopsy-confirmed membranous glomerulonephritis presenting nephrotic syndrome and 27 matched controls and determined the concentrations of homocyst(e)ine and proteins considered putative markers of glomerular and tubular function. Hyperhomocyst(e)inemia, defined as the mean +SD of the plasma homocyst(e)ine concentration of the controls [plasma homocyst(e)ine concentration >10.8 micromol/l] was present in 26% of the patients with nephrotic syndrome but in only 7.4% of the controls. Furthermore, the degree of hyperhomocyst(e)inemia was more severe in the nephrotic patients than in the controls. The existence of renal failure, tubular damage, and, interestingly, relatively well conserved glomerular function barrier were the main predictors of increased levels of plasma homocyst(e)ine. In conclusion, hyperhomocyst(e)inemia is a frequent cardiovascular risk factor present in patients with nephrotic syndrome and renal failure, but it is not directly associated with proteinuria.

  2. Metabolic syndrome in Iranian patients with systemic lupus erythematosus and its determinants.

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    Fatemi, Alimohammad; Ghanbarian, Azadeh; Sayedbonakdar, Zahra; Kazemi, Mehdi; Smiley, Abbas

    2018-01-05

    The aim of this study was to determine the prevalence of metabolic syndrome (MetS) in Iranian patients with systemic lupus erythematosus (SLE) and its determinants. In a cross-sectional study, 98 patients with SLE and 95 controls were enrolled. Prevalence of MetS was determined based on American Heart Association and National Heart, Lung, and Blood Institute (AHA/NHLBI) and 2009 harmonizing criteria. In addition, demographic features and lupus characteristics such as disease duration, pharmacological treatment, laboratory data, SLE disease activity index (SLEDAI), and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage index (SDI) were recorded. The predictors of MetS were obtained by backward stepwise regression analysis. Using AHA/NHLBI, MetS was observed in 35 (35.7%) patients and 28 (29.8%) controls (P = 0.4). Using harmonizing criteria, MetS was observed in 37 (37.7%) patients and 33 (35.1%) controls (P = 0.7). There was no difference in frequency distribution of MetS components between the patients and the controls. In multivariate regression analysis, low C3, blood urea nitrogen (BUN), and body mass index were independent determinants of MetS in lupus patients. BUN, low C3, and body mass index were the major determinants of MetS in lupus patients.

  3. Analysis of clinical application on determining serum inflammatory cytokines levels in patients with acute coronary syndrome

    International Nuclear Information System (INIS)

    Luo Wenhao; Bai Yun; Yang Yongqing

    2011-01-01

    Objective: To evaluate analysis of clinical application on determining serum inflammatory cytokines levels in patients with acute coronary syndrome (ACS). Methods: The levels of interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-8 (IL-8), high-sensitive C-reaction protein (hs-CRP) (with high-sensitive enzyme immunoassay) and tumor necrosis factor-α (TNF-α) (with radioimmunoassay) in serum were determined in 112 patients with ACS, 32 patients with stable angina pectoris (SAP) and 42 normal controls as well as did compared analysis. Results: The serum IL-1β, IL-6, IL-8, TNF-α and hs-CRP levels in 112 patients with ACS were obviously higher than those in 42 controls (P all 0.05), serum hs-CRP level was increased only (P<0.05). The serum IL-1β, IL-6, IL-8, TNF-α and hs-CRP levels in 46 patients with acute myocardial infraction (AMI) were prominently higher than those in 66 patients with unstable angina pectoris (UAP) and in 32 patients with SAP. The serum IL-1β, IL-6, IL-8, TNF-α and hs-CRP levels with advanced degree SAP, UAP and AMI were increased. Conclusion: In the severity of the patients with SAP, UAP, AMI, the determination of serum inflammatory cytokines level were a good and important index, so that it was referential for heart coronary events happened. (authors)

  4. MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings

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    Miller, L. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Angulo, M. [Dept. of Pediatrics, Div. of Endocrinology and Genetics, Winthrop University Hospital, Mineola, NY (United States); Price, D. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Taneja, S. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States)

    1996-01-01

    Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70% of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion. We studied 15 GH-deficient PWS patients by magnetic resonance imaging (MRI) to determine whether there was a diminution in the gross morphological size of the anterior pituitary gland, the site of GH synthesis. We also set out to catalog the pertinent imaging findings in this patient population. Our results indicate that this is the first report documenting pituitary size by MRI in PWS patients. No statistically significant difference was found in the height of the anterior pituitary gland in PWS patients compared with either normal children or children with isolated GH deficiency. An interesting imaging finding is that three of 15 patients (20%) demonstrated complete absence of the posterior pituitary bright spot (PPBS), and a fourth patient demonstrated a small PPBS. These observations reflect an objective physiologic disturbance in the hypothalamus. The clinical and radiologic implications of these findings are discussed. (orig.)

  5. Geriatric syndromes are potential determinants of the medication adherence status in prevalent dialysis patients

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    Chia-Ter Chao

    2016-06-01

    Full Text Available Background. Geriatric syndromes (GS exhibit high prevalence in patients with end-stage renal disease (ESRD under chronic dialysis irrespective of age. We sought to determine whether GS influences medication adherence in ESRD patients. Methods. A prospective cohort of chronic dialysis patients was assembled. The presence of GS components, including frailty/prefrailty, polypharmacy, and malnutrition, were ascertained through a validated questionnaire, electronic records and chart abstraction, and laboratory tests. The severity of medication non-adherence was defined using the eight-item Morisky Medication Adherence Scale (MMAS. Multiple logistic regression analysis was performed targeting MMAS results and incorporating relevant clinical features and GS. Results. The prevalence of frailty/pre-frailty, polypharmacy, and hypoalbuminemia/ malnutrition among the enrolled participants was 66.7%, 94%, and 14%, respectively. The average MMAS scores in these dialysis patients were 2 ± 1.7 (range, 0–6, with only 15.7% exhibiting high medication adherence. Multiple regression analyses showed that the absence of frailty/pre-frailty (P = 0.01 were significantly associated with poorer medication adherence, while the presence of polypharmacy (P = 0.02 and lower serum albumin, a potential sign of malnutrition (P = 0.03, were associated with poor adherence in another model. Conclusion. This study is among the very few reports addressing GS and medication adherence, especially in ESRD patients. Interventions targeting frailty, polypharmacy, and malnutrition might potentially improve the medication non-adherence and symptom control in these pill-burdened patients.

  6. The scintigraphic determination of small intestinal transit time in patients with irritable bowel syndrome

    International Nuclear Information System (INIS)

    Marano, A.R.; Caride, V.J.; Shah, R.V.; Prokop, E.K.; Troncale, F.J.; McCallum, R.W.

    1984-01-01

    Diffuse disturbance in gastrointestinal motility may be present in patients with irritable bowel syndrome (IBS). To further investigate small intestinal motility in IBS patients small intestinal transit time (SITT) was determined and related to the symptom status. 11 female patients with IBS (mean age 29 years) were divided into those whose predominate symptom was diarrhea (N=6), and those with only constipation (N=5). All subjects ingested an isosmotic solution of lactulose (10 gm in 150cc of water) labeled with 99m-Tc-DTPA (Sn). The patient was studied supine under a 25 inch gamma camera with data collected at 1 frame per minute for 180 minutes or until activity appeared in the ascending colon. Regions of interest were selected over the cecum and ascending colon. The time of first appearance of radioactivity in the region of the cecum was taken as the small intestinal transit time. SITT in the 5 normal females was 98.7 +- 13 min (mean +- SEM). SITT in the IBS patients with diarrhea, 67.3 +- 7 min was significantly faster (p< 0.08). SITT in the constipated IBS patients, 126 +- 12 min, was slower than normals and significantly different from diarrhea patients (p< 0.001). These studies show that IBS patients with diarrhea have significantly faster SITT than normals while constipated IBS patients have significantly slower SITT than the diarrhea subgroup. Further, this study emphasizes the need to study the various symptomatic subgroups of IBs patients independently and indicates a possible role for abnormal SITT in the pathogenesis of IBS

  7. The scintigraphic determination of small intestinal transit time in patients with irritable bowel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Marano, A.R.; Caride, V.J.; Shah, R.V.; Prokop, E.K.; Troncale, F.J.; McCallum, R.W.

    1984-01-01

    Diffuse disturbance in gastrointestinal motility may be present in patients with irritable bowel syndrome (IBS). To further investigate small intestinal motility in IBS patients small intestinal transit time (SITT) was determined and related to the symptom status. 11 female patients with IBS (mean age 29 years) were divided into those whose predominate symptom was diarrhea (N=6), and those with only constipation (N=5). All subjects ingested an isosmotic solution of lactulose (10 gm in 150cc of water) labeled with 99m-Tc-DTPA (Sn). The patient was studied supine under a 25 inch gamma camera with data collected at 1 frame per minute for 180 minutes or until activity appeared in the ascending colon. Regions of interest were selected over the cecum and ascending colon. The time of first appearance of radioactivity in the region of the cecum was taken as the small intestinal transit time. SITT in the 5 normal females was 98.7 +- 13 min (mean +- SEM). SITT in the IBS patients with diarrhea, 67.3 +- 7 min was significantly faster (p< 0.08). SITT in the constipated IBS patients, 126 +- 12 min, was slower than normals and significantly different from diarrhea patients (p< 0.001). These studies show that IBS patients with diarrhea have significantly faster SITT than normals while constipated IBS patients have significantly slower SITT than the diarrhea subgroup. Further, this study emphasizes the need to study the various symptomatic subgroups of IBs patients independently and indicates a possible role for abnormal SITT in the pathogenesis of IBS.

  8. Determining the association between retinopathy and metabolic syndrome in patients with type 2 diabetes mellitus visiting Mayo Hospital, Lahore

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    Ghani, U; Niaz, Z; Cheema, T M; Abaidullah, S; Salman, S; Latif, F [King Edward Medical University, Mayo Hospital, Lahore (Pakistan). Dept. of Diabetic Mellitus

    2010-04-15

    Introduction: The metabolic syndrome is a cluster of metabolic abnormalities including abdominal obesity, glucose intolerance, hypertension and dyslipidemia. Diabetic retinopathy is common sequel of diabetes. Objective: To determine the frequency of retinopathy in patients of type 2 diabetes metabolic syndrome. Study Design; Descriptive study. This study was conducted in diabetic clinic of Mayo Hospital, Lahore, from January 17, 2007 to July 16,2007. Methods; Three hundred and sixty patients fulfilling the inclusion criteria were selected for this study and divided into two groups. (Diabetes and with metabolic syndrome) Demographic data of each patient including age, sex, height and weight were collected. Each patient was interviewed about the duration, treatment and complications of diabetes. Data were analyzed by SPSS. P value was calculated by Chi Square test. Results; In group I, the mean height was 1.60 +- 0.08 meters, mean weight was 68.82 +- 7.36 kilograms and mean BMI was 26.38 +- 1.10 kg/m2 and In group II, the mean height was 1.56 +- 0.12 meters, mean weight was 81.58 +- 9.85 kilograms and mean BMI was 33.80 +- 3.61 kg/m/sup 2/. In group I micro aneurysms, dot hemorrhages, blot hemorrhages and hard exudates were found in 12.22% patients. In group II, micro aneurysms, dot hemorrhages, blot hemorrhages and hard exudates were found in 25% patients (p 0.0028). In group I, there were 10.56% patients in which cotton wool spots were found and in group II there were 11.67% patients in which cotton wool spots were found (p 0.0358). In group I, there were 2.78% patients in which new blood vessel formation were found and in group II there were 4.44% patients in which new blood vessel formation was found (p 0.625). Conclusion; It is concluded from this study that frequency of retinopathy is high in patients with metabolic syndrome as compared to patients without metabolic syndrome. (author)

  9. Determining the association between retinopathy and metabolic syndrome in patients with type 2 diabetes mellitus visiting Mayo Hospital, Lahore

    International Nuclear Information System (INIS)

    Ghani, U.; Niaz, Z.; Cheema, T.M.; Abaidullah, S.; Salman, S.; Latif, F.

    2010-01-01

    Introduction: The metabolic syndrome is a cluster of metabolic abnormalities including abdominal obesity, glucose intolerance, hypertension and dyslipidemia. Diabetic retinopathy is common sequel of diabetes. Objective: To determine the frequency of retinopathy in patients of type 2 diabetes metabolic syndrome. Study Design; Descriptive study. This study was conducted in diabetic clinic of Mayo Hospital, Lahore, from January 17, 2007 to July 16,2007. Methods; Three hundred and sixty patients fulfilling the inclusion criteria were selected for this study and divided into two groups. (Diabetes and with metabolic syndrome) Demographic data of each patient including age, sex, height and weight were collected. Each patient was interviewed about the duration, treatment and complications of diabetes. Data were analyzed by SPSS. P value was calculated by Chi Square test. Results; In group I, the mean height was 1.60 +- 0.08 meters, mean weight was 68.82 +- 7.36 kilograms and mean BMI was 26.38 +- 1.10 kg/m2 and In group II, the mean height was 1.56 +- 0.12 meters, mean weight was 81.58 +- 9.85 kilograms and mean BMI was 33.80 +- 3.61 kg/m/sup 2/. In group I micro aneurysms, dot hemorrhages, blot hemorrhages and hard exudates were found in 12.22% patients. In group II, micro aneurysms, dot hemorrhages, blot hemorrhages and hard exudates were found in 25% patients (p 0.0028). In group I, there were 10.56% patients in which cotton wool spots were found and in group II there were 11.67% patients in which cotton wool spots were found (p 0.0358). In group I, there were 2.78% patients in which new blood vessel formation were found and in group II there were 4.44% patients in which new blood vessel formation was found (p 0.625). Conclusion; It is concluded from this study that frequency of retinopathy is high in patients with metabolic syndrome as compared to patients without metabolic syndrome. (author)

  10. Designing and determining validity and reliability of a questionnaire to identify factors affecting nutritional behavior among patients with metabolic syndrome

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    Naseh Esmaeili

    2017-06-01

    Full Text Available Background : A number of studies have shown a clear relationship between diet and component of metabolic syndrome. Based on the Theory of Reasoned Action (TRA, attitude and subjective norm are factors affecting behavioral intention and subsequently behavior. The aim of the present study is to design a valid questionnaire identifying factors affecting nutritional behavior among patients with metabolic syndrome. Materials and Methods: Via literature review, six focus group discussion and interview with nutrition specialists were performed to develop an instrument based on the theory of reasoned action. To determine validity of the instrument, content and face validity analyses with 15 expert panels conducted and also to determine reliability, Cronbach’s Alpha coefficient performed. Results: A draft of 100 items questionnaire was developed and after evaluation of validity and reliability, final questionnaire included 46 items: 17 items for attitude, 13 items for subjective norms and 16 items for behavioral intention. For the final questionnaire average of content validity index was 0/92 and Cronbach’s Alpha coefficient was 0/85. Conclusion: Based on the results of the current study the developed questionnaire is a valid and reliable instrument and it can be used to identify factors affecting nutritional behavior among people with metabolic syndrome based on the theory of reasoned action.

  11. Clinical Significance of Determination of the Serum Levels of NT-proBNP and hs-CRP in Patients with Acute Coronary Syndrome

    International Nuclear Information System (INIS)

    Zheng Zhaojun; Zheng Jing; Sun Weili; Yuan Yuan; Tao Jian; Li Weipeng

    2010-01-01

    To explore the clinical significance the serum levels of N-Terminal proB-Type natriuretic peptide (NT-proBNP) and high-sensitivity C-reactive protein (hs-CRP) in patients with acute coronary syndrome,the serum levels of NT-proBNP and hs-CRP in patients and normal controls were determined by ECi Immunity Analyzer and radioimmunoassay respectively. The results showed that the serum levels of NT-proBNP and hs-CRP in patients with acute coronary syndrome were significantly higher than that of controls (P<0.05). The diagnostic specificity for acute coronary syndrome was 100% by combined detection of NT-proBNP and hs-CRP. The results suggest that the combined detection of serum NT-proBNP and hs-CRP levels are very important to evaluate heart function in patients with acute coronary syndrome. (authors)

  12. Determination of new prediction formula for nasal continuous positive airway pressure in Turkish patients with obstructive sleep apnea syndrome.

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    Basoglu, Ozen K; Tasbakan, Mehmet Sezai

    2012-12-01

    Race/ethnicity may play an important role in determining body size, severity of obstructive sleep apnea syndrome (OSAS), and effective continuous positive airway pressure (CPAP) (Peff). Turkey is composed of different ethnic groups. Therefore, the aims of this study were to determine new prediction formula for CPAP (Ppred) in Turkish OSAS patients, validate performance of this formula, and compare with Caucasian and Asian formulas. Peff of 250 newly diagnosed moderate-to-severe OSAS patients were calculated by in-laboratory manual titration. Correlation and multiple linear regression analysis were used to model effects of ten anthropometric and polysomnographic variables such as neck circumference (NC) and oxygen desaturation index (ODI) on Peff. New formula was validated in different 130 OSAS patients and compared with previous formulas. The final prediction formula was [Formula: see text]. When Peff of control group was assessed, it was observed that mean Peff was 8.39 ± 2.00 cmH(2)O and Ppred was 8.23 ± 1.22 cmH(2)O. Ppred was within ±3 cmH(2)O of Peff in 96.2% patients. Besides, Peff was significantly correlated with new formula, and prediction formulas developed for Caucasian and Asian populations (r = 0.651, p < 0.001, r = 0.648, p < 0.001, and r = 0.622, p < 0.001, respectively). It is shown that level of CPAP can be successfully predicted from our prediction formula, using NC and ODI and validated in Turkish OSAS patients. New equation correlates with other formulas developed for Caucasian and Asian populations. Our simple formula including ODI, marker of intermittent hypoxia, may be used easily in different populations.

  13. Coronary Angiography Findings and Its Determinants in Patients Presenting With Acute Coronary Syndrome: A Descriptive Analysis from Asian Population.

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    Chourasiya, M; Satheesh, S; Selvaraj, R; Jayaraman, B; Pillai, A A

    2017-10-01

    The aim was to study the angiographic profile in patients presented as acute coronary syndrome and its relation with risk factors and comparison between genders. This prospective observational study was performed on total 352 patients of acute coronary syndrome were analyzed for various risk factors, angiographic pattern in Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, South India from January 2015 to July 2016. Mean age of presentation was 52.62±11.63 years. Male were 271(77.0%) and female were 81(23.0%). Majority of patients were STEMI (67.6%) followed by UA (24.4%) and NSTEMI (8%). Smoker was 117(33.3%) patients. Hypertensive were 124(35.2%) of patients and 149(42.3%) were diabetics. Family history of CAD was positive in 45(12.8%). On angiographic evaluation left main reference diameter was lower in females (4.02±0.72) than males (4.07±0.82). LAD was most commonly involved followed by RCA and LCX among all three group of acute coronary syndrome. Left main was least involved (8.3%). In STEMI SVD (40.3%) was most common presentation, after that DVD was seen in 22.3%, TVD in 10.5%, non-obstructive coronary was seen in 16% of patients and normal coronary was seen in 11% of patients. In UA 28%, 22.8%, 13.2%, 15.8%, 20.2% was seen in SVD, DVD, TVD, non-obstructive and normal coronary respectively. Long length coronary lesions (>20mm) were seen in majority in all type of acute coronary syndrome. Coronary lesion length was not associated with presentation acute coronary syndrome and genders. Male were most commonly presented as acute coronary syndrome. STEMI was most common presentation. Diabetic was most prevalent risk factor. SVD was most common angiographic pattern and LAD was most common involved arteries.

  14. Endoplasmic reticulum stress in adipose tissue determines postprandial lipoprotein metabolism in metabolic syndrome patients.

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    Camargo, Antonio; Meneses, Maria E; Rangel-Zuñiga, Oriol A; Perez-Martinez, Pablo; Marin, Carmen; Delgado-Lista, Javier; Paniagua, Juan A; Tinahones, Francisco J; Roche, Helen; Malagon, Maria M; Perez-Jimenez, Francisco; Lopez-Miranda, Jose

    2013-12-01

    Our aim was to ascertain whether the quality and quantity of fat in the diet may influence the ER stress at the postprandial state in adipose tissue by analyzing the gene expression of chaperones, folding enzymes, and activators of the UPR. A randomized, controlled trial conducted within the LIPGENE study assigned 39 MetS patients to one of four diets: high-SFA (HSFA; 38% energy (E) from fat, 16% E as SFA), high MUFA (HMUFA; 38% E from fat, 20% E as MUFA), and two low-fat, high-complex carbohydrate (LFHCC; 28% E from fat) diets supplemented with 1.24 g/day of long-chain n-3 PUFA or placebo for 12 wk each. A fat challenge reflecting the same fatty acid composition as the original diets was conducted post intervention. sXBP-1 is induced in the postprandial state irrespective of the diet consumed (p diets HMUFA (p = 0.006), LFHCC (p = 0.028), and LFHCC n-3 (p = 0.028). Postprandial mRNA expression levels of CRL, CNX, PDIA3, and GSTP1 in AT did not differ between the different types of diets. Our results suggest that upregulation of the unfolded protein response at the postprandial state may represent an adaptive mechanism to counteract diet-induced stress. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  15. Could peak proteinuria determine whether patient with dengue fever develop dengue hemorrhagic/dengue shock syndrome? - A prospective cohort study

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    Suhail Sufi M

    2011-08-01

    Full Text Available Abstract Background Worldwide there is a need to develop simple effective predictors that can distinguish whether a patient will progress from dengue fever (DF to life threatening dengue hemorrhagic (DHF or dengue shock syndrome (DSS. We explored whether proteinuria could be used as such a marker. Methods We included patients admitted to hospital with suspected dengue fever. Starting at enrollment until discharge, each patient's daily spot urine protein creatinine ratio (UPCR was measured. We classified those with confirmed dengue infection as DF or DHF (including DSS based on WHO criteria. Peak and day of onset of proteinuria was compared between both groups. Results Compared to those with DF, patients with DHF had significantly higher median peak proteinuria levels (0.56 versus 0.08 g/day; p Conclusions Peak UPCR could potentially predict DHF in patients with dengue requiring close monitoring and treatment.

  16. Cachexia Syndrome, anorexia patient

    International Nuclear Information System (INIS)

    Roldán, G.; Musé, I.

    2004-01-01

    Introduction: Two thirds of patients (ptes) cancer present slimming recognized a negative prognostic factor. Anorexia cachexia syndrome (SCA) results from the interaction of multiple factors and causes death of 22% of these patients. Nutritional support produces a moderate recovery weight without affecting the underlying metabolic disorders. Objectives: Conduct a review of current knowledge of the underlying pathophysiology and management the cachexia-anorexia syndrome in cancer patients. Designing indications possible policy interventions in the management of these patients. Method: Performed an a literature review on SCA. Conclusions: We identify patients at risk for early implementation of non-pharmacological measures preventive. The control side effects to treatment oncospecific with particular attention to the need for antiemetics, laxatives / antidiarrheal control dental and proper pain management is fundamental. Keep track enteral is a priority. In those with swallowing disorders or dysphagia, nasogastric feeding tube should be considered early. Indications for gastrostomy / jejunostomy and total parenteral nutrition (TPN) are very limited. The NPT is a complementary treatment maneuver a temporary and reversible complication, in order to prevent deterioration

  17. The cut-off values of dietary energy intake for determining metabolic syndrome in hemodialysis patients: A clinical cross-sectional study

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    Duong, Tuyen Van; Wong, Te-Chih; Chen, Hsi-Hsien; Chen, Tzen-Wen; Chen, Tso-Hsiao; Hsu, Yung-Ho; Peng, Sheng-Jeng; Kuo, Ko-Lin; Wang, Chi-Sin; Tseng, I-Hsin; Feng, Yi-Wei; Chang, Tai-Yue; Su, Chien-Tien

    2018-01-01

    Dietary energy intake strongly linked to dialysis outcomes. We aimed to explore the optimal cut-off point of energy intake (EI) for identification of metabolic syndrome (MetS) in hemodialysis patients. The cross-sectional data of 243 hemodialysis patients from multi-dialysis centers in Taiwan was used. The dietary intake was assessed by using the three-day dietary questionnaire, and a 24-hour dietary recall, clinical and biochemical data were also evaluated. The MetS was diagnosed by the Harmonized Metabolic Syndrome criteria. The receiver operating characteristic (ROC) curve was to depict the optimal cut-off value of EI for the diagnosis of MetS. The logistic regression was also used to explore the association between inadequate EI and MetS. The optimal cut-off points of EI for identifying the MetS were 26.7 kcal/kg/day for patients aged less than 60 years, or with non-diabetes, and 26.2 kcal/kg/day for patients aged 60 years and above, or with diabetes, respectively. The likelihood of the MetS increased with lower percentiles of energy intake in hemodialysis patients. In the multivariate analysis, the inadequate dietary energy intake strongly determined 3.24 folds of the MetS. The assessment of dietary EI can help healthcare providers detecting patients who are at risk of metabolic syndrome. PMID:29538427

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

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    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.

  19. Determinants of torsades de pointes in older patients with drug-associated long QT syndrome: a case-control study.

    Science.gov (United States)

    Goutelle, Sylvain; Sidolle, Elodie; Ducher, Michel; Caron, Jacques; Timour, Quadiri; Nony, Patrice; Gouraud, Aurore

    2014-08-01

    Many elderly patients are routinely exposed to drugs that may prolong the cardiac QT interval and cause Torsades de pointes (TdP). However, predictors of TdP in patients with drug-associated long QT syndrome (LQTS) are not fully understood, especially in the geriatric population. The objective of this study was to identify risk factors of TdP in elderly patients with drug-associated LQTS. In this retrospective, case-control study, documented reports of drug-associated LQTS plus TdP (n = 125) and LQTS without TdP (n = 81) in patients ≥65 years of age were retrieved from the French Pharmacovigilance Database over a 10-year period. Available clinical, biological, and drug therapy data were compared in the two groups and logistic regression was performed to identify significant predictors of TdP. The uncorrected QT interval was significantly longer in patients with TdP than in patients without TdP (577 ± 79 vs. 519 ± 68 ms; p = 0.0001). The number of drugs with a known risk of TdP administered to each patient was not a predictor of arrhythmia, nor was female gender. Logistic regression analysis identified the uncorrected QT interval as the only significant predictor of TdP. The receiver operating characteristic curve analysis was characterized by an area under the curve of 0.77 (95 % confidence interval 0.64-0.88) and a QT cutoff of 550 ms. The uncorrected QT interval was significantly associated with the probability of TdP in elderly patients with acquired, drug-associated LQTS.

  20. Gastric emptying rate and small bowel transit time in patients with irritable bowel syndrome determined with 99mTc-labeled pellets and scintigraphy

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    Nielsen, O.H.; Gjorup, T.; Christensen, F.N.

    1986-12-01

    A new method employing 99mTc-labeled pellets for determination of the gastric emptying rate and small bowel transit time is described. The participants were six normal subjects and 16 patients with irritable bowel syndrome (eight with diarrhea and eight with obstipation as the primary complaint). The gastric emptying rate was the same in the three groups. The patients in the obstipation group had a significantly longer small bowel transit time than the normals (P less than 0.02) and the patients in the diarrhea group (P less than 0.01). There was no demonstrable difference between the small bowel transit time in the normals and in the patients in the diarrhea group.

  1. Gastric emptying rate and small bowel transit time in patients with irritable bowel syndrome determined with 99mTc-labeled pellets and scintigraphy

    International Nuclear Information System (INIS)

    Nielsen, O.H.; Gjorup, T.; Christensen, F.N.

    1986-01-01

    A new method employing 99mTc-labeled pellets for determination of the gastric emptying rate and small bowel transit time is described. The participants were six normal subjects and 16 patients with irritable bowel syndrome (eight with diarrhea and eight with obstipation as the primary complaint). The gastric emptying rate was the same in the three groups. The patients in the obstipation group had a significantly longer small bowel transit time than the normals (P less than 0.02) and the patients in the diarrhea group (P less than 0.01). There was no demonstrable difference between the small bowel transit time in the normals and in the patients in the diarrhea group

  2. THE METABOLIC SYNDROME AMONG PATIENTS WITH ...

    African Journals Online (AJOL)

    Objectives: To determine the frequency of occurrence of the Metabolic Syndrome among patients presenting with cardiovascular disease at the Korle Bu Teaching Hospital, Ghana. Methods: This was a case-control study of 100 con-secutive cardiovascular disease patients and 100 age- and sex- matched controls who ...

  3. Lynch syndrome: the patients' perspective

    NARCIS (Netherlands)

    Seppen, Jurgen; Bruzzone, Linda

    2013-01-01

    People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted

  4. Growth Arrest-Specific 6 Protein in Patients with Sjögren Syndrome: Determination of the Plasma Level and Expression in the Labial Salivary Gland.

    Directory of Open Access Journals (Sweden)

    Chen-Hung Chen

    Full Text Available Growth arrest-specific protein 6 (Gas6 is a vitamin K-dependent protein expressed by endothelial cells and leukocytes that are involved in cell survival, migration, and proliferation in response to inflammatory processes. The aim of this study was to assess the implications of Gas6 in Sjögren syndrome (SS and its expression in the labial salivary gland.A total of 254 adults, including 159 with primary Sjögren syndrome (pSS, 34 with secondary Sjögren syndrome (sSS, and 61 normal controls, were recruited. Plasma Gas6 concentrations were determined, and Gas6 expressions in labial salivary gland (LSG tissues from controls and pSS and sSS patients were also evaluated. Plasma Gas6 concentrations were significantly lower among patients with pSS than normal controls (13.5 ± 8.6 vs. 19.9 ± 13.4 ng/ml, p < 0.001. There were, however, no significant differences in plasma Gas6 levels between pSS and sSS patients (13.5 ± 8.6 vs. 16.9 ± 11.2 ng/ml, p = 0.068. In multivariate logistic regression analysis, after adjustment for white blood cell count, hemoglobin level, platelet count, lymphocyte count, and C3 and C4 levels, lower plasma Gas6 concentrations were significantly associated with an increased risk of SS. Moreover, by using a semi-quantitative scale to evaluate Gas6 expression in LSG tissues, Gas6 expression was found to be markedly lower in LSG tissues from pSS patients than in tissues from normal controls.Decreased plasma Gas6 concentration and LSG expression were associated with pSS. As such, Gas6 may represent a novel independent risk factor for pSS, with a potential role in salivary gland inflammation and dysfunction.

  5. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  6. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

    NARCIS (Netherlands)

    Buysse, K.; Reardon, W.; Mehta, L.; Costa, T.; Fagerstrom, C.; Kingsbury, D.J.; Anadiotis, G.; McGillivray, B.C.; Hellemans, J.; Leeuw, N. de; Vries, L.B.A. de; Speleman, F.; Menten, B.; Mortier, G.

    2009-01-01

    Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and

  7. Clinical diagnostic value of determination of serum lschemia modified albumin, homocysteine and high-sensitivity C-reactive protein levels in patients with acute coronary syndrome

    International Nuclear Information System (INIS)

    Lu Weiqun; Jiang Donglin; Lu Weigu

    2009-01-01

    Objective: To study the clinical diagnostic value of determination of serum ischemia modified albumin (IMA), homocysteine (Hcy) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with acute coronary syndrome (ACS). Methods: Serum IMA (with albumin-cobalt binding assay), Hcy (with ELISA) and hs-CRP (with RIA) levels were determined in 73 patients with ACS within 3 hours after onset of chest pain and 40 controls. Results: The sensitivity of IMA was 87.67%, the specificity was 100%. The area under curve of ROC was 0.985 (95% confidence interval 0.969 ∼ 1.001). All the figures were higher than those of Hcy and hs-CRP. Combined determination of IMA, Hcy and hs-CRP, would increass the sensitivity to 97.26%. Conclusion: IMA is one of the earliest sensitive indicators for clinical diagnosis of early myocardial ischemia in patients with ACS. Combined determination of IMA, Hcy and hs-CRP would be even more sensitive. (authors)

  8. [A patient with Noonan syndrome].

    Science.gov (United States)

    Bins, A; Gortzak, R A Th

    2013-12-01

    Noonan syndrome is a relatively common autosomal dominant genetic disorder which is characterised by typical facial features, congenital heart diseases and small stature. In 50% of the cases the syndrome is caused by a mutation on the PTPN11-gen. The expression of symptoms associated with Noonan syndrome can be very mild in nature and facial features usually become less pronounced with age, which can sometimes make a correct diagnosis more difficult. Despite a wide range of associated symptoms most adults with Noonan syndrome can be self-sustaining, with a good quality of life. It is important that the dentist is well-informed about this syndrome due to the heart diseases and bleeding disorders which can be present with these patients and may influence a dentist's choice of therapy when invasive treatment is indicated.

  9. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

    NARCIS (Netherlands)

    Stewart, Douglas R.; Brems, Hilde; Gomes, Alicia G.; Ruppert, Sarah L.; Callens, Tom; Williams, Jennifer; Claes, Kathleen; Bober, Michael B.; Hachen, Rachel; Kaban, Leonard B.; Li, Hua; Lin, Angela; McDonald, Marie; Melancon, Serge; Ortenberg, June; Radtke, Heather B.; Samson, Ignace; Saul, Robert A.; Shen, Joseph; Siqveland, Elizabeth; Toler, Tomi L.; van Maarle, Merel; Wallace, Margaret; Williams, Misti; Legius, Eric; Messiaen, Ludwine

    2014-01-01

    "Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of

  10. Hearing impairment in genotyped Wolfram syndrome patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  11. The use of 125I-labelled fibrinogen for determination of fibrin trapping in the lungs in patients developing the microembolism syndrome

    International Nuclear Information System (INIS)

    Busch, C.; Dahlgren, S.; Jakobson, S.; Jung, B.; Modig, J.; Saldeen, T.

    1975-01-01

    The microembolism syndrome occurred in four patients out of a series of 15 patients with multiple injuries who were considered to run a risk of developing this syndrome. These four patients showed signs of fibrin trapping in the lungs, as demonstrated by the use of 125 I-labelled fibrinogen and external detection over the lungs. It is, therefore, considered that this method can be used for diagnosing the microembolism syndrome. The fibrin trapping occurred at the onset of the progressive respiratory insufficiency. The time relation between the uptake of fibrin and the onset of the progressive respiratory insufficiency supports the theory af a causal connection between fibrin and pulmonary damage. Measurements of different coagulation and fibrinolysis factors in the blood were not able to discriminate between patients who developed the microembolism syndrome and those who did not. (author)

  12. Incidence of refeeding syndrome in internal medicine patients.

    Science.gov (United States)

    Kraaijenbrink, B V C; Lambers, W M; Mathus-Vliegen, E M H; Siegert, C E H

    2016-03-01

    Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to a department of internal medicine. All patients acutely admitted to the department of internal medicine of a teaching community hospital in Amsterdam, the Netherlands, between 22 February 2011 and 29 April 2011, were included. We applied the National Institute for Health and Care Excellence (NICE) criteria for determining people at risk of refeeding syndrome and took hypophosphataemia as the main indicator for the presence of this syndrome. Of 178 patients included in the study, 97 (54%) were considered to be at risk of developing refeeding syndrome and 14 patients actually developed the syndrome (14% of patients at risk and 8% of study population). Patients with a malignancy or previous malignancy were at increased risk of developing refeeding syndrome (p refeeding syndrome. The Short Nutritional Assessment Questionnaire score had a positive and negative predictive value of 13% and 95% respectively. The incidence of refeeding syndrome was relatively high in patients acutely admitted to the department of internal medicine. Oncology patients are at increased risk of developing refeeding syndrome. When taking the occurrence of hypophosphataemia as a hallmark, no other single clinical or composite parameter could be identified that accurately predicts the development of refeeding syndrome.

  13. Diversity of apolipoprotein E genetic polymorphism significance on cardiovascular risk is determined by the presence of metabolic syndrome among hypertensive patients.

    Science.gov (United States)

    Teixeira, Andrei Alkmim; Marrocos, Mauro Sergio; Quinto, Beata Marie Redublo; Dalboni, Maria Aparecida; Rodrigues, Cassio Jose de Oliveira; Carmona, Silmara de Melo; Kuniyoshi, Mariana; Batista, Marcelo Costa

    2014-11-20

    Hypertension has a significant relevance as a cardiovascular risk factor. A consistent increase on world's Metabolic Syndrome (MetS) incidence has been associated with an epidemic cardiovascular risk in different populations. Dislipidemia plays a major role determining the epidemic CV burden attributed to MetS. Apolipoprotein E (ApoE) is involved on cholesterol and triglycerides metabolism regulation. Once ApoE polymorphism may influence lipid metabolism, it is possible that it brings on individual susceptibility consequences for the development of MetS and cardiovascular risk. The objective of the study is to measure the discriminatory power of ApoE polymorphism in determining cardiovascular risk stratification based on the presence MetS in a cohort of hypertensive patients. It was enrolled 383 patients, divided in two groups, classified by MetS presence (IDF criteria): Group 1: 266 patients with MetS (MetS +) and Group 2: 117 patients without Mets (MetS -). Patient's data were collected by clinical evaluation, physical exam, file reviews and laboratory testing. Polymorphic ApoE analysis was performed by PCR amplification. Groups were compared on clinical and laboratory characteristics as well as allele and genotype distribution towards ApoE polymorphism. Mets CVD prevalence was analysed according to E4 allele prevalence. The results evidenced 184 men (48%), 63,7% whites, 45,1% diabetics and 11,7% of patients were smokers. Mean age was 64,0 ± 12,0 years. When genotypic distribution was analyzed, E3/3 genotype and E3 allele frequencies were more prevalent. Among patients with MetS, we observed an independent association between CVD prevalence and E4 allele frequency (OR 2.42 (1.17- 5.0, p < 0,05)). On the opposite direction, in those without MetS, there was lesser CVD burden in E4 allele carriers (OR 0,14 (0,02-0,75)). These associations remained significant even after confounding factor corrections. The results presented demonstrate that the association

  14. Investigating hyperventilation syndrome in patients suffering from empty nose syndrome.

    Science.gov (United States)

    Mangin, David; Bequignon, Emilie; Zerah-Lancner, Francoise; Isabey, Daniel; Louis, Bruno; Adnot, Serge; Papon, Jean-François; Coste, André; Boyer, Laurent; Devars du Mayne, Marie

    2017-09-01

    Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. Observational prospective study. All consecutive patients referred to our center for ENS over 1 year were invited to participate. Patients completed the Nijmegen score and underwent a hyperventilation provocation test (HVPT) and arterial blood gas and cardiopulmonary tests. HVS was defined by a delayed return of the end-tidal partial pressure of carbon dioxide in the expired gas to baseline during HVPT. Patients with HVS were asked to complete the Sinonasal Outcome Test (SNOT)-16 questionnaire before and after a specific eight-session respiratory rehabilitation program. Twenty-two of the 29 patients referred for ENS during the study period were eligible for inclusion and underwent a complete workup. HVS was diagnosed in 17 of these patients (77.3%). In the five patients who completed the SNOT-16, the score was significantly lower after rehabilitation. This study suggests that HVS is frequent in patients with ENS, and that symptoms can be improved by respiratory rehabilitation. Pathophysiological links between ENS and HVS deserve to be further explored. 2b Laryngoscope, 127:1983-1988, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  15. Male patients with partial androgen insensitivity syndrome

    DEFF Research Database (Denmark)

    Hellmann, Philip; Christiansen, Peter; Johannsen, Trine Holm

    2012-01-01

    To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome.......To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome....

  16. Irritable Bowel Syndrome in a Population of African Patients

    Directory of Open Access Journals (Sweden)

    Sylvester Chuks Nwokediuko

    2012-01-01

    Full Text Available Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs.

  17. Restless legs syndrome in patients on hemodialysis

    Directory of Open Access Journals (Sweden)

    Saleh Mohammad Yaser Salman

    2011-01-01

    Full Text Available Restless legs syndrome (RLS is common among dialysis patients, with a reported prevalence of 6-60%. The prevalence of RLS in Syrian patients on hemodialysis (HD is not known. The purpose of this study is to determine the prevalence of RLS in patients on regular HD, and to find the possible correlation between the presence of RLS and demographic, clinical, and biochemical factors. One hundred and twenty-three patients (male/female = 70/53, mean age = 41.95 ± 15.11 years on HD therapy at the Aleppo University Hospital were enrolled into the study. RLS was diagnosed based on criteria established by the International Restless Legs Syn-drome Study Group (IRLSSG. Data procured were compared between patients with and without RLS. Applying the IRLSSG criteria for the diagnosis, RLS was seen in 20.3% of the study pa-tients. No significant difference in age, gender, and intake of nicotine and caffeine was found between patients with and without the RLS. Similarly, there was no difference between the two groups in the duration of end-stage renal disease (ESRD, the period of dialysis dependence, dialysis adequacy, urea and creatinine levels, and the presence of anemia. The co-morbidities and the use of drugs also did not differ in the two groups. Our study suggests that the high prevalence of RLS among patients on HD requires careful attention and correct diagnosis can lead to better therapy and better quality of life. The pathogenesis of RLS is not clear and further studies are required to identify any possible cause as well as to discover the impact of this syndrome on sleep, quality of life, and possibly other complications such as cardiovasculare disease.

  18. Depression and marital status determine the 10-year (2004-2014) prognosis in patients with acute coronary syndrome: the GREECS study.

    Science.gov (United States)

    Notara, Venetia; Panagiotakos, Demosthenes B; Papataxiarchis, Evagellos; Verdi, Margarita; Michalopoulou, Moscho; Tsompanaki, Elena; Kogias, Yannis; Stravopodis, Petros; Papanagnou, George; Zombolos, Spyros; Stergiouli, Ifigenia; Mantas, Yannis; Pitsavos, Christos

    2015-01-01

    The aim of the present work was to examine the association of depression and marital status, with the long-term prognosis of acute coronary syndrome (ACS), among a Greek sample of cardiac patients. From October 2003 to September 2004, a sample of 2172 consecutive ACS patients from 6 hospitals was enrolled. In 2013-2014, the 10-year follow-up was performed in 1918 participants. Depressive symptoms were evaluated using the validated CES-D score (range 0-60), while marital status was classified as: single, married/cohabitants, divorced and widowed at the time of entry to the study. Patients in the upper tertile of CES-D (>20 score) had 41% (95%CI 14%, 75%) higher risk of ACS incidence as compared with those in the lowest (marital relationships among ACS patients. Secondary public health care intervention programmes are needed to improve patient outcomes and minimise disease burden in clinical and community setting.

  19. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Incidence of refeeding syndrome in internal medicine patients

    NARCIS (Netherlands)

    Kraaijenbrink, B. V. C.; Lambers, W. M.; Mathus-Vliegen, E. M. H.; Siegert, C. E. H.

    2016-01-01

    Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to

  1. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  2. Compartment elasticity measured by pressure-related ultrasound to determine patients "at risk" for compartment syndrome: an experimental in vitro study.

    Science.gov (United States)

    Sellei, Richard Martin; Hingmann, Simon Johannes; Kobbe, Philipp; Weber, Christian; Grice, John Edward; Zimmerman, Frauke; Jeromin, Sabine; Hildebrand, Frank; Pape, Hans-Christoph

    2015-01-01

    Decision-making in treatment of an acute compartment syndrome is based on clinical assessment, supported by invasive monitoring. Thus, evolving compartment syndrome may require repeated pressure measurements. In suspected cases of potential compartment syndromes clinical assessment alone seems to be unreliable. The objective of this study was to investigate the feasibility of a non-invasive application estimating whole compartmental elasticity by ultrasound, which may improve accuracy of diagnostics. In an in vitro model, using an artificial container simulating dimensions of the human anterior tibial compartment, intra-compartmental pressures (p) were raised subsequently up to 80 mmHg by infusion of saline solution. The compartmental depth (mm) in the cross-section view was measured before and after manual probe compression (100 mmHg) upon the surface resulting in a linear compartmental displacement (∆d). This was repeated at rising compartmental pressures. The resulting displacements were related to the corresponding intra-compartmental pressures simulated in our model. A hypothesized relationship between pressures related compartmental displacement and the elasticity at elevated compartment pressures was investigated. With rising compartmental pressures, a non-linear, reciprocal proportional relation between the displacement (mm) and the intra-compartmental pressure (mmHg) occurred. The Pearson coefficient showed a high correlation (r(2) = -0.960). The intra-observer reliability value kappa resulted in a statistically high reliability (κ = 0.840). The inter-observer value indicated a fair reliability (κ = 0.640). Our model reveals that a strong correlation between compartmental strain displacements assessed by ultrasound and the intra-compartmental pressure changes occurs. Further studies are required to prove whether this assessment is transferable to human muscle tissue. Determining the complete compartmental elasticity by ultrasound

  3. [metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

    Science.gov (United States)

    Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

    2015-02-01

    To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

  4. Screening for Cushing's syndrome in obese patients

    Directory of Open Access Journals (Sweden)

    Ozay Tiryakioglu

    2010-01-01

    Full Text Available OBJECTIVES: The aim of this study was to examine the frequency of Cushing's syndrome (CS in obese patients devoid of specific clinical symptoms of Cushing's syndrome. METHODS: A total of 150 obese patients (129 female, 21 male; mean age 44.41 ± 13.34 yr; mean BMI 35.76 ± 7.13 were included in the study. As a first screening step, we measured 24-h urinary free cortisol (UFC. An overnight 1-mg dexamethasone suppression test was also performed on all patients. Urinary free cortisol levels above 100 μg/24 h were considered to be abnormal. Suppression of serum cortisol 100 μg/24 h were recorded in 37 patients (24%. Cushing's syndrome was diagnosed in 14 of the 150 patients (9.33%. Etiologic reasons for Cushing's syndrome were pituitary microadenoma (9 patients, adrenocortical adenoma (3 patients, and adrenocortical carcinoma (1 patient. CONCLUSION: A significant proportion (9.33% of patients with simple obesity were found to have Cushing's syndrome. These findings argue that obese patients should be routinely screened for Cushing's syndrome.

  5. Waardenburg syndrome in four Mexican patients.

    Science.gov (United States)

    Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

    2009-01-01

    Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

  6. Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

    OpenAIRE

    Khan, S; McDowell, H; Upadhyaya, M; Fryer, A

    1995-01-01

    This is the first report of a Noonan syndrome patient who has had a vaginal rhabdomyosarcoma. Recent reports of Noonan syndrome patients with leukaemia have prompted speculation that there may be a slightly increased malignancy risk associated with this syndrome.

  7. PMS2 involvement in patients suspected of Lynch syndrome.

    Science.gov (United States)

    Niessen, Renée C; Kleibeuker, Jan H; Westers, Helga; Jager, Paul O J; Rozeveld, Dennie; Bos, Krista K; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H; Hofstra, Robert M W

    2009-04-01

    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch syndrome than initially thought. To explore this further, we determined the prevalence of pathogenic germline PMS2 mutations in a series of Lynch syndrome-suspected patients. Ninety-seven patients who had early-onset microsatellite instable colorectal or endometrial cancer, or multiple Lynch syndrome-associated tumors and/or were from an Amsterdam Criteria II-positive family were selected for this study. These patients carried no pathogenic germline mutation in MLH1, MSH2, or MSH6. When available, tumors were investigated for immunohistochemical staining (IHC) for PMS2. PMS2 was screened in all patients by exon-by-exon sequencing. We identified four patients with a pathogenic PMS2 mutation (4%) among the 97 patients we selected. IHC of PMS2 was informative in one of the mutation carriers, and in this case, the tumor showed loss of PMS2 expression. In conclusion, our study confirms the finding of previous studies that PMS2 is more frequently involved in Lynch syndrome than originally expected.

  8. Frequency of Metabolic Syndrome and Its Components in Patients with Carpal Tunnel Syndrome

    International Nuclear Information System (INIS)

    Iftikhar, S.; Javed, M. A.; Kasuri, M. N.

    2016-01-01

    Objective: To determine the frequency of metabolic syndrome and its components in patients with carpal tunnel syndrome. Study Design: Case-series. Place and Duration of Study: Department of Neurology, Mayo Hospital, Lahore, from January to June 2012. Methodology: Seventy-five (64 females and 11 males) patients with clinically diagnosed and electrodiagnostically confirmed carpal tunnel syndrome were inducted. Their waist circumference, blood pressure, fasting blood glucose, fasting triglycerides and high density lipoprotein cholesterol levels were recorded. Patients were categorized having metabolic syndrome according to Adult Treatment Panel III criteria, if any 3 were present out of hypertension, elevated fasting triglycerides, reduced high density lipoprotein cholesterol, elevated fasting blood glucose, and elevated waist circumference. Result: Mean age of the patients was 42.04±9.31 years, mean waist circumference was 95.32±9.03 cm, mean systolic blood pressure was 134.13±13.72 mmHg, mean diastolic blood pressure was 89.13±8.83 mmHg, mean fasting blood glucose was 94.35±21.81 mg/dl, mean fasting triglycerides was 177.48±48.69 mg/dl, and mean high density lipoprotein cholesterol was 41.95±11.17 mg/dl. Metabolic syndrome was found in 54 (72 percentage) patients including 9 (16.7 percentage) males and 45 (83.3 percentage) females. Out of 75 patients, 54 (72 percentage) had elevated waist circumference, 52 (69.3 percentage) had elevated blood pressure, 19 (25.3 percentage) had elevated fasting blood glucose, 53 (70.6 percentage) had elevated fasting triglycerides and 54 (72 percentage) had reduced high density lipoprotein cholesterol. Highest frequency of metabolic syndrome was found in age range of 40 - 49 years in both genders. Conclusion: Metabolic syndrome is frequently found in the patients with carpal tunnel syndrome. (author)

  9. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  10. Twenty-two patients with Sotos' syndrome

    International Nuclear Information System (INIS)

    Miyake, Shota; Tada, Hiroshi; Hayashi, Michiko; Iwamoto, Hiroko; Fukushima, Yoshimitsu; Kuroki, Yoshikazu

    1985-01-01

    A retrospective study of 22 patients with Sotos' syndrome (17 boys and 5 girls) seen in the past 14 years was made respecting the age of the patients at the first visit, the age of the patients' parents at birth, neonatal abnormalities, neonatal physical characteristics, facial expression characteristics of this syndrome, growth index, and CT findings. CT showed ventricular dilation in all patients (moderate or extreme dilation in 87%, and the association of structure abnormality in the median part in many patients), subdural edema in 4 and arachnoid cyst in 2. (Namekawa, K.)

  11. Epilepsy in patients with Angelman syndrome

    Directory of Open Access Journals (Sweden)

    Fiumara Agata

    2010-04-01

    Full Text Available Abstract Angelman syndrome (AS is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly. The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others

  12. A parallel chiral-achiral liquid chromatographic method for the determination of the stereoisomers of ketamine and ketamine metabolites in the plasma and urine of patients with complex regional pain syndrome

    OpenAIRE

    Moaddel, Ruin; Venkata, Swarajya Lakshmi Vattem; Tanga, Mary J.; Bupp, James E.; Green, Carol E.; Iyer, Lalitha; Furimsky, Anna; Goldberg, Michael E.; Torjman, Marc C.; Wainer, Irving W.

    2010-01-01

    A parallel chiral/achiral LC-MS/MS assay has been developed and validated to measure the plasma and urine concentrations of the enantiomers of ketamine, (R)- and (S)-Ket, in Complex Regional Pain Syndrome (CRPS) patients receiving a 5-day continuous infusion of a sub-anesthetic dose of (R,S)-Ket. The method was also validated for the determination of the enantiomers of the Ket metabolites norketamine, (R)-and (S)-norKet and dehydronorketamine, (R)- and (S)-DHNK, as well as the diastereomeric ...

  13. Assessment of Sexual Dysfunction in Patients with Fibromyalgia Syndrome

    Directory of Open Access Journals (Sweden)

    Rahime Nur Ülker

    2013-12-01

    Full Text Available Objectives: The aim of our study is to determine the presence, quality of sexual dysfunction in patients with fibromyalgia syndrome and to compare with normal population. Material and Methods: A total of 55 sexually active women who were admitted to Department of Physical Therapy and Rehabilitation of Antalya Research and Training Hospital and diagnosed with fibromyalgia syndrome according to 1990 and 2010 American College of Rheumatology (ACR criteria. A control group composed of 50 sexually active women who were admitted to our clinic with various musculoskeletal system complaints were also included in the study in order to compare the parameters used for clinical assessment of patients and to determine whether the patients differ from normal population. Patients and controls who met inclusion criteria were applied Female Sexual Function Index (FSFI for assessment of sexual function. This test was developed by Rosen and colleagues in 2000, it is composed of 19 questions and inquires six different dimensions including desire, arousal, lubrication, orgasm, sexual satisfaction and pain. Turkish validation test was done by Turkish Society Of Andrology in 2003, answers are multiplied with a coefficient and each section is evaluated on six scores. Minimum score is 2.4 and maximum is 36 and standardly used for assessment of female sexual dysfunction in Turkey. Results: Subscale and total score of Female Sexual Function Index of Fibromyalgia syndrome patients were found statistically significantly lower than those of control group (p<0.05. Conclusion: Disorders of sexual function or its quality are one of the problems seen in fibromyalgia syndrome patients. It should be noticed that sexual function assessment must be a part of treatment of fibromyalgia syndrome. It is quite difficult to determine the mechanism between sexual dysfunction and fibromyalgia syndrome and new and larger studies are needed to determine this mechanism. (Turkish Journal of

  14. Metabolic syndrome in asthmatic patients of hazara division

    International Nuclear Information System (INIS)

    Ahmed, N.; Kazim, S.M.; Gillani, S.Y.

    2017-01-01

    Bronchial asthma is a common disease and most asthmatics are obese. Both asthma and obesity are showing parallel trends in their increasing prevalence. Obesity is also the main component of metabolic syndrome and several studies have shown metabolic syndrome to be associated with bronchial asthma. The present study was, therefore, designed to determine the frequency of metabolic syndrome among patients with chronic asthma in our setup. Methods: This cross-sectional study was conducted in Department of Medicine, Ayub Teaching Hospital, Abbottabad from May to November, 2014. One hundred and fifty-four asthmatic patients were enrolled in this study. Samples for blood glucose, triglycerides and HDL Cholesterol were taken after an overnight fast. Sitting blood pressure was measured with mercury sphygmomanometer after 10 minutes of rest. Waist circumference was measured at the level of the midpoint between the high point of the iliac crest and the last rib. Results: Out of 154 patients, 80 were males and 74 were females. Metabolic syndrome was diagnosed in 46 (29.87 percent) patients. When metabolic syndrome was stratified according to age, sex and duration of asthma, the results were found to be insignificant (p-0.89, 0.30 and 0.85). Conclusion: This study showed that metabolic syndrome was present in almost one third of study population. (author)

  15. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  16. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  17. Culture-bound syndromes in Hispanic primary care patients.

    Science.gov (United States)

    Bayles, Bryan P; Katerndahl, David A

    2009-01-01

    We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

  18. Specifics of mental disorders of patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    K. I. Kleban

    2017-09-01

    Full Text Available In the general-somatic network there is a steady increase in the number of patients with psychosomatic disorders. Problems of providing adequate psychiatric and psychotherapeutic assistance to this category of patients are related to the motivation of patients to participate in psychological measures and the readiness of the medical system to provide comprehensive care on the basis of the biopsychosocial approach. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. So mental disorders of metabolic syndrome are manifested in the form of psychosocial maladaptation, neurotic, affective, personality, and organic disorders. Desynchronosis which is a factor of the development of a metabolic syndrome and characterizes the complex chronobiological component of the regulation of psychophysiological functions in norm and under the influence of stress, deserves special attention. Addressing the diagnosis of mental disorders associated with metabolic syndrome is precisely aimed at determining chronobiological disorders of psychosomatic integrated areas and is supposed to improve diagnostic and treatment process and to shorten the treatment of these disorders.

  19. Association of metabolic syndrome in patients with osteoarthritis

    International Nuclear Information System (INIS)

    Malik, S.; Salim, B.; Khalil, Z.; Nasim, A.

    2015-01-01

    Objective: To determine association of osteoarthritis (OA) with metabolic syndrome in a tertiary care hospital of Pakistan. Methodology: A cross-sectional study was conducted at Fauji Foundation Hospital, Rawalpindi, Pakistan. Patients were randomly interviewed in the Female Rheumatology department and a total of 240 patients with single rheumatologic disease and age >35 years were selected. Informed consent was taken and patients were interviewed using a self-made questionnaire to evaluate their medical history, physical and laboratory examination. SPSS version 17 was used to analyze the data. Results: Out of 240 subjects, 81 patients had OA and another 81 patients were randomly selected from the age and gender matched control (non-OA) group. The mean age of patients in OA and non-OA group was 56.68 ± 09.76 and 53.57 ± 11.01 years, respectively. In OA group, 48.1% and in non-OA group 22.2% of patients were falling in category of being obese/morbidly obese. According to AHA criteria for Metabolic Syndrome, percentage of OA patients labeled to have metabolic syndrome was 58.8% as compared to 19.5% in non-OA group. Conclusion: There was a strong association of metabolic syndrome with OA and would surely make a foreground for future studies to be conducted on developing preventive strategies and ultimately reducing the morbidities and mortalities associated with Metabolic Osteoarthritis. (author)

  20. Determination Of Association Of Pigmentary Glaucoma With Pigment Dispersion Syndrome.

    Science.gov (United States)

    Shah, Imtiaz Ali; Shah, Shujaat Ali; Nagdev, Partab Rai; Abbasi, Safdar Ali; Abbasi, Naeem Ali; Katpar, Safdar Akhtar

    2017-01-01

    Pigment Dispersion Syndrome (PDS) is an autosomal dominant disorder of white males between 20 to 40 years of age characterized by deposition of pigment on the lens, zonules of lens, trabecular meshwork and corneal endothelium (Krukenberg's spindle) in addition to radial, spoke like transillumination defects in the mid peripheral iris. This study was conducted to determine the frequency of occurrence of Pigmentary Glaucoma in patients with Pigment Dispersion Syndrome (PDS). This longitudinal follow up study included patients presenting with Krukenberg's spindle on the endothelial side of cornea and pigmentation of angle of anterior chamber seen on slit lamp examination and gonioscopy. Seventy-two cases of PDS were included in the study, amongst them 63 (87.50%) were males. Mean age was 35.00±6.54 years (range 24-46 years). Forty-seven (65.28%) patients had an IOP in the range of 10-14 mmHg, 22 (30.56%) patients had an IOP in the range of 15-18 mmHg and 3 (4.17%) patients developed an IOP of greater than 19 mmHg. Fundoscopy showed myopic degeneration in 49 (68.06%) patients and optic disc cupping in 3 (4.17%) patients. Four (5.56%) patients had refractive error between +1D to +3D, 9 (12.50%) patients had refractive error between -1D to -4D, 21 (29.17%) patients had refractive error between -5 D to -8 D and 38 (52.78%) patients had refractive error between -9 D to -12 D. Our study showed that one patient having PDS developed glaucoma at 5 years of follow up and three patients developed glaucoma at 14 years of follow up. On the basis of this study we conclude that early onset primary open angle glaucoma associated with PDS or Juvenile glaucoma associated with PDS might have been mistaken as Pigmentary Glaucoma in Pakistani patients and a distinct entity in the form of Pigmentary Glaucoma may be non-existent.

  1. Hearing impairment in genotyped Wolfram syndrome patients.

    Science.gov (United States)

    Plantinga, Rutger F; Pennings, Ronald J E; Huygen, Patrick L M; Bruno, Rocco; Eller, Philipp; Barrett, Timothy G; Vialettes, Bernard; Paquis-Fluklinger, Veronique; Lombardo, Fortunato; Cremers, Cor W R J

    2008-07-01

    Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin). All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability. This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.

  2. [Fournier syndrome: the perception of the patient].

    Science.gov (United States)

    Cavalini, Fernanda; Moriya, Tokico Murakawa; Pelá, Nilza Teresa Rotter

    2002-06-01

    The purpose of the present investigation was to identify the perception of the Fournier syndrome's patients about their disease and caregivers. Data was collected by means of interviews with a structured routine and the analysis was based on the André's analysis of prose. According to the patients, the syndrome causes intense pain, edema, fever and wounds, demanding surgical treatment, dressings and bringing physical, economical and familiar problems. The caregivers' attitudes and behaviors were described as having more negative aspects than good ones. The necessity of a better training of the caregivers in the cognitive, psychomotor and affective sense is evident.

  3. Neuron- specific enolase level in patients with metabolic syndrome and its value forecasting acute stroke

    Directory of Open Access Journals (Sweden)

    Oral Ospanov

    2018-03-01

    Full Text Available Background Patients with metabolic syndrome are at a greater risk of experiencing a cerebrovascular event. Several studies show that patients with metabolic syndrome have asymptomatic ischemic brain injury. In this case, there is a need for rapid determination of asymptomatic brain lesions and prediction of acute stroke. Aims The aim of the study was to determine the neuron-specific enolase (NSE serum level in patients with metabolic syndrome and the value of this level for forecasting acute stroke. Methods The study used the following information to determine metabolic syndrome: waist circumference, total cholesterol, triglycerides, high-density lipoprotein cholesterol, blood pressure, and blood glucose. Doppler sonography mapping of the brachiocephalic trunk was held to determine the percentage of the carotid artery stenosis. To determine asymptomatic ischemic brain injury, the NSE serum marker was measured. Statistical processing of the measurements was performed using the H test and the Mann–Whitney test. The possible link between MS and NSE were determined by logistic regression analysis. Mathematical modeling was performed using logistic regression. Results There are statistically significant differences in NSE concentrations in groups with metabolic syndrome and ischemic stroke patients. This assertion is confirmed by logistic regression analysis, which revealed the existence of a relationship between metabolic syndrome and increased concentration of NSE. Conclusion Patients with metabolic syndrome have an increased concentration of NSE. This indicates the presence of asymptomatic ischemic neuronal damage. A prognostic model for determining the probability that patients with metabolic syndrome will have an acute stroke was developed.

  4. Frequency of metabolic syndrome in patients with type-2 diabetes

    International Nuclear Information System (INIS)

    Ahmed, N.; Ahmad, T.; Hussain, S.J.; Javed, M.

    2010-01-01

    Background: Diabetes, Hypertension, Obesity and Ischaemic Heart Disease have become a problem of public health magnitude with substantial economic burden both in the developed as well as the developing countries. Obesity is quite frequent in Type 2 diabetics and also plays a central role in causing Metabolic Syndrome (MetS). Metabolic Syndrome significantly increases the incidence of cardiovascular complications. This study was done to determine the frequency of MetS in our Type 2 diabetic patients as most of the components of MetS can be modified and identifying/managing these at an early stage might be of considerable help in reducing cardiovascular complications. Methods: This cross-sectional study was done in Medical B and Medical A wards of Ayub Teaching Hospital, Abbottabad from Nov, 08 to April, 09. Type 2 Diabetic patients aged above 40 years who gave informed consent were included in the study. Data was collected through a structured proforma. Frequency of Metabolic Syndrome was estimated according to the IDF consensus worldwide definition of the MetS. Results: Of the 100 patients enrolled in this study 56 were females and 44 were males with a mean age of 59.9 years. Out of these 100 participants seventy six (76%) were diagnosed to have metabolic syndrome. Of the 56 females, forty eight (85.71%) were having metabolic syndrome while twenty eight (63.63%) of the 44 male participants were having the syndrome. The difference was statistically significant (p<0.05). Conclusion: Frequency of MetS was found to be significantly high in this study with female preponderance. All the components, except Hypertension were more frequent in females. Diabetic patients with metabolic syndrome need more aggressive approach in management so as to decrease the incidence of cardiovascular complications. (author)

  5. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    Directory of Open Access Journals (Sweden)

    Yu. P. Zinchenko

    2016-01-01

    Full Text Available Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH, in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years. The duration of hypertension on average was 7.2Ѓ}2.6 years and was comparable in both groups. The control group included 82 healthy subjects (mean age 44.9Ѓ}3.1 years. The Russian version of the Maslach Burnout Inventory (MBI was used to diagnose «burnout syndrome».Results. Signs of «burnout syndrome» were found in the hypertensive patients of both groups. The high and medium levels of the «burnout syndrome» severity according to all three analyzed factors (emotional exhaustion, dehumanization/depersonification, and personal achievements were found in 59% of WPH patients, in 36% of hypertensive patients without WPH, and in 9% of healthy individuals. Most of WPH patients had high emotional exhaustion compared with other groups (27.5Ѓ}3.67 points vs 24.6Ѓ}4.3 and 20.1Ѓ}5.7 points in group 2, and group of healthy, respectively; p<0.05. Hypertensive men rated themselves as less successful professionally in comparison with women. Hypertensive women were more prone to emotional exhaustion and dehumanization/depersonification in comparison with men. Conclusion. Signs of «burnout syndrome» were found significantly more often in hypertensive patients in both groups than in healthy people. Medium and high intensity of all forms of «burnout syndrome» occurred in patients with WPH in comparison with healthy people and hypertensive patients without WPH.

  6. Prevalence and determinants of burnout syndrome among primary ...

    African Journals Online (AJOL)

    Prevalence and determinants of burnout syndrome among primary healthcare ... Background: General practitioners (GPs) in particular are prone to developing ... Fatigue, the use of analgesics and irritability were the most common symptoms.

  7. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    OpenAIRE

    Yu. P. Zinchenko; E. I. Pervichko; O. D. Ostroumova

    2016-01-01

    Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH), in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years) were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years) and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years)...

  8. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    Science.gov (United States)

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Parent-of-origin effects in Turner Syndrome patients

    OpenAIRE

    Wang, Jada; Styers, Marshall; Sayres, Melissa Wilson

    2015-01-01

    Turner Syndrome patients have a single X chromosome, without a partner, X or Y. It has been suggested that the inheritance of the maternal X or paternal X may affect the severity of Turner Syndrome, as well as the incidence of mental disorders in Turner Syndrome individuals. Parental imprinting on the X chromosome may lead to different phenotypic variations in Turner Syndrome patients. In this project, we conduct an analysis of the current state of research on Turner Syndrome, and review the ...

  10. Severe Fever with Thrombocytopenia Syndrome in Patients Suspected of Having Scrub Typhus.

    Science.gov (United States)

    Wi, Yu Mi; Woo, Hye In; Park, Dahee; Lee, Keun Hwa; Kang, Cheol-In; Chung, Doo Ryeon; Peck, Kyong Ran; Song, Jae-Hoon

    2016-11-01

    To determine prevalence of severe fever with thrombocytopenia syndrome in South Korea, we examined serum samples from patients with fever and insect bite history in scrub typhus-endemic areas. During the 2013 scrub typhus season, prevalence of this syndrome among patients suspected of having scrub typhus was high (23.0%), suggesting possible co-infection.

  11. Cushing's syndrome and bone mineral density: lowest Z scores in young patients.

    NARCIS (Netherlands)

    Eerden, A.W.A.; Heijer, M. den; Oyen, W.J.G.; Hermus, A.R.M.M.

    2007-01-01

    Background: Patients with Cushing's syndrome have a high prevalence of osteoporotic fractures. Little is known about factors determining bone mineral density (BMD) in these patients. Objective: To evaluate which factors influence BMD at the time of diagnosis of Cushing's syndrome. Methods: In 77

  12. Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis

    Directory of Open Access Journals (Sweden)

    Shinji Kobayashi, MD

    2017-09-01

    Conclusions:. Using the corrected cephalometric analysis, the distance and vector of distraction osteogenesis with Le Fort III osteotomy could be determined in patients with syndromic craniosynostosis. The distraction system brought the patients' facial bones to the planned position using controlling devices.

  13. The consequences' magnitude of the postsurgering period as a factor which determining the direction of rehabilitation in patients after surgical treatment of the vertebral compression syndromes

    Directory of Open Access Journals (Sweden)

    Lazarieva Ye.B.

    2012-11-01

    Full Text Available The difficult multicomponent system of internal and external co-operations of organism of man is considered. Content-analysis of hospital of patients of able to work age charts is conducted (52% men, 48% women. It is set that an osteochondrosis striking the most active group of population in age from 20 to 60 years. The separate group of youth age is selected (1,34 % patients. Influence of age is set on the feature of flow of period of rehabilitation. It is confirmed the presence of reliable cross-correlation connections between the number of the spent years and quality and duration of sleep on 5 days after an operation (r=0,35. This index was estimated in accordance with the questionnaire of Osvestri. A determining value on the specific of flow of postoperational period has the appearance of operative interference and surgical access. These indexes with duration of early postoperational period and terms of stay in permanent establishment have coefficients of correlation scope from 0,75 to 0,92.

  14. Reduced apolipoprotein glycosylation in patients with the metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Olga V Savinova

    Full Text Available The purpose of this study was to compare the apolipoprotein composition of the three major lipoprotein classes in patients with metabolic syndrome to healthy controls.Very low density (VLDL, intermediate/low density (IDL/LDL, hereafter LDL, and high density lipoproteins (HDL fractions were isolated from plasma of 56 metabolic syndrome subjects and from 14 age-sex matched healthy volunteers. The apolipoprotein content of fractions was analyzed by one-dimensional (1D gel electrophoresis with confirmation by a combination of mass spectrometry and biochemical assays.Metabolic syndrome patients differed from healthy controls in the following ways: (1 total plasma--apoA1 was lower, whereas apoB, apoC2, apoC3, and apoE were higher; (2 VLDL--apoB, apoC3, and apoE were increased; (3 LDL--apoC3 was increased, (4 HDL--associated constitutive serum amyloid A protein (SAA4 was reduced (p<0.05 vs. controls for all. In patients with metabolic syndrome, the most extensively glycosylated (di-sialylated isoform of apoC3 was reduced in VLDL, LDL, and HDL fractions by 17%, 30%, and 25%, respectively (p<0.01 vs. controls for all. Similarly, the glycosylated isoform of apoE was reduced in VLDL, LDL, and HDL fractions by 15%, 26%, and 37% (p<0.01 vs. controls for all. Finally, glycosylated isoform of SAA4 in HDL fraction was 42% lower in patients with metabolic syndrome compared with controls (p<0.001.Patients with metabolic syndrome displayed several changes in plasma apolipoprotein composition consistent with hypertriglyceridemia and low HDL cholesterol levels. Reduced glycosylation of apoC3, apoE and SAA4 are novel findings, the pathophysiological consequences of which remain to be determined.

  15. Possible predictors of depressive syndrome in patients with chronic obstructive pulmonary disease.

    Directory of Open Access Journals (Sweden)

    T. O. Pertseva

    2018-05-01

    Full Text Available Recently, the problem of depressive syndrome in COPD patients often attracts the attention of doctors and scientists. It is important to study the relationship between the presence of the depressive syndrome, on the one hand, and the clinical and functional characteristics of COPD patients on the other, in order to determine the categories of patients inclined to develop a depressive syndrome. The purpose of the study: to determine the relationship between the presence of depressive syndrome in COPD patients with the severity of their clinical symptoms of COPD and the level of functional impairments. 52 COPD patients of clinical groups C and D were examined. Depending on the presence of depressive syndrome patients were divided into two subgroups: a subgroup 1 – 15 COPD patients with concomitant depressive syndrome, a subgroup 2 – 37 people without it. The examination included general clinical and functional methods. It was determined that the development of depressive syndrome in COPD patients can be affected by the high severity of clinical symptoms of COPD in general, decreased tolerance to physical activity, long duration of the disease, poor quality of life. At the same time, the levels of functional indicators, in particular, OFV1 and SpO2, may not have a significant relationship with the occurrence of depressive syndrome, even in patients with severe COPD.

  16. Mortality in Patients with Endogenous Cushing's Syndrome.

    Science.gov (United States)

    Javanmard, Pedram; Duan, Daisy; Geer, Eliza B

    2018-06-01

    Cushing's syndrome is associated with increased morbidity and mortality. Cardiovascular events, sepsis, and thromboembolism are the leading causes of mortality. Patient's with Cushing's due to a pituitary adenoma and those with Cushing's due to benign adrenal adenoma have relatively good survival outcomes often mirroring that of the general population. Persistent or recurrent disease is associated with high mortality risk. Ectopic Cushing's syndrome and Cushing's due to adrenocortical carcinoma confer the highest mortality risk among Cushing's etiologies. Prompt diagnosis and treatment, and specific monitoring for and treatment of associated comorbidities are essential to decrease the burden of mortality from Cushing's. Copyright © 2018 Elsevier Inc. All rights reserved.

  17. Cardiovascular Risk Stratification in Patients with Metabolic Syndrome Without Diabetes or Cardiovascular Disease: Usefulness of Metabolic Syndrome Severity Score.

    Science.gov (United States)

    Masson, Walter; Epstein, Teo; Huerín, Melina; Lobo, Lorenzo Martín; Molinero, Graciela; Angel, Adriana; Masson, Gerardo; Millán, Diana; De Francesca, Salvador; Vitagliano, Laura; Cafferata, Alberto; Losada, Pablo

    2017-09-01

    The estimated cardiovascular risk determined by the different risk scores, could be heterogeneous in patients with metabolic syndrome without diabetes or vascular disease. This risk stratification could be improved by detecting subclinical carotid atheromatosis. To estimate the cardiovascular risk measured by different scores in patients with metabolic syndrome and analyze its association with the presence of carotid plaque. Non-diabetic patients with metabolic syndrome (Adult Treatment Panel III definition) without cardiovascular disease were enrolled. The Framingham score, the Reynolds score, the new score proposed by the 2013 ACC/AHA Guidelines and the Metabolic Syndrome Severity Calculator were calculated. Prevalence of carotid plaque was determined by ultrasound examination. A Receiver Operating Characteristic analysis was performed. A total of 238 patients were enrolled. Most patients were stratified as "low risk" by Framingham score (64%) and Reynolds score (70.1%). Using the 2013 ACC/AHA score, 45.3% of the population had a risk ≥7.5%. A significant correlation was found between classic scores but the agreement (concordance) was moderate. The correlation between classical scores and the Metabolic Syndrome Severity Calculator was poor. Overall, the prevalence of carotid plaque was 28.2%. The continuous metabolic syndrome score used in our study showed a good predictive power to detect carotid plaque (area under the curve 0.752). In this population, the calculated cardiovascular risk was heterogenic. The prevalence of carotid plaque was high. The Metabolic Syndrome Severity Calculator showed a good predictive power to detect carotid plaque.

  18. Metabolic syndrome in patients with ischemic heart disease

    International Nuclear Information System (INIS)

    Yasmin, S.; Naveed, T.; Shakoor, T.

    2008-01-01

    To determine the frequency of metabolic syndrome in patients with Ischemic Heart Disease (IHD). Cross-sectional, descriptive study. A total of 100 subjects with ischemic heart disease, fulfilling the inclusion criteria, were enrolled in the study. Demographic data (age and gender) and the 5 component conditions of the metabolic syndrome were noted. Subjects were physically assessed for the abdominal obesity, based on waist circumference. Fasting blood samples for glucose and lipid profile in first 24 hours after acute coronary insult were drawn and tested in central laboratory. Variables were processed for descriptive statistics. In this study population, 68% were male and 32% were female with mean age of 52 +-13.6 years in men and 56 +- 12.5 years in women. Frequency of metabolic syndrome was 32% in men and 28% in women. It increased with age. The highest rate of metabolic syndrome was in men diagnosed as STEMI (odds ratio: 3.39, 95% CI=1.36-8.41). Frequency of metabolic syndrome was high among the patients with IHD. It supports the potential for preventive efforts in persons with high-risk of IHD. (author)

  19. Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome

    DEFF Research Database (Denmark)

    Storgaard, Filip Holst; Pedersen, Christina Gravgaard; Jensen, Majbritt Lykke

    Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome.......Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome....

  20. Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

    Directory of Open Access Journals (Sweden)

    Frédéric Vély

    2018-05-01

    Full Text Available The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation. The main features are intractable diarrhea of infancy, hair abnormalities, facial dysmorphism, and intrauterine growth restriction. Immunologically this syndrome is associated with a hypogammaglobulinemia leading to an immunoglobulin supplementation. Our immune evaluation of a large French cohort of SD/THE patient revealed several immunological defects. First, switched memory B lymphocytes count is very low. Second, IFN-γ production by T and NK cells is impaired and associated with a reduced degranulation of NK cells. Third, T cell proliferation was abnormal in 3/6 TTC37-mutated patients. These three patients present with severe EBV infection and a transient hemophagocytosis which may be related to these immunological defects. Moreover, an immunological screening of patients with clinical features of SD/THE could facilitate both diagnosis and therapeutic management of these patients.

  1. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    Science.gov (United States)

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  2. 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.

  3. Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

    Science.gov (United States)

    Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

    2015-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

  4. Metabolic syndrome in Tunisian bipolar I patients | Ezzaher | African ...

    African Journals Online (AJOL)

    Gender, age, illness episode and treatment were not significantly associated with metabolic syndrome, while patients under lithium had higher prevalence of metabolic syndrome than those under valproic acid, carbamazepine or antipsychotics. Patients with metabolic syndrome had significant higher levels of HOMA-IR and ...

  5. Polycystic Ovary Syndrome in Patients with Epilepsy

    OpenAIRE

    Goltz, Christoph Freiherr von der

    2010-01-01

    Epilepsy has been associated with an increased frequency of reproductive endocrine disorders including polycystic ovary syndrome (PCOS). Some study groups claim that epilepsy itself plays a pathogenic role, whereas others propose that PCOS may be attributable to the use of antiepileptic drugs (AEDs), particularly sodium valproate (VPA). Estimates regarding the prevalence of PCOS in this patient group vary, among other reasons, because of different definitions of PCOS. The aim of the present c...

  6. A parallel chiral-achiral liquid chromatographic method for the determination of the stereoisomers of ketamine and ketamine metabolites in the plasma and urine of patients with complex regional pain syndrome.

    Science.gov (United States)

    Moaddel, Ruin; Venkata, Swarajya Lakshmi Vattem; Tanga, Mary J; Bupp, James E; Green, Carol E; Iyer, Lalitha; Furimsky, Anna; Goldberg, Michael E; Torjman, Marc C; Wainer, Irving W

    2010-10-15

    A parallel chiral/achiral LC-MS/MS assay has been developed and validated to measure the plasma and urine concentrations of the enantiomers of ketamine, (R)- and (S)-Ket, in complex regional pain syndrome (CRPS) patients receiving a 5-day continuous infusion of a sub-anesthetic dose of (R,S)-Ket. The method was also validated for the determination of the enantiomers of the Ket metabolites norketamine, (R)- and (S)-norKet and dehydronorketamine, (R)- and (S)-DHNK, as well as the diastereomeric metabolites hydroxynorketamine, (2S,6S)-/(2R,6R)-HNK and two hydroxyketamines, (2S,6S)-HKet and (2S,6R)-Hket. In this method, (R,S)-Ket, (R,S)-norKet and (R,S)-DHNK and the diastereomeric hydroxyl-metabolites were separated and quantified using a C(18) stationary phase and the relative enantiomeric concentrations of (R,S)-Ket, (R,S)-norKet and (R,S)-DHNK were determined using an AGP-CSP. The analysis of the results of microsomal incubations of (R)- and (S)-Ket and a plasma and urine sample from a CRPS patient indicated the presence of 10 additional compounds and glucuronides. The data from the analysis of the patient sample also demonstrated that a series of HNK metabolites were the primary metabolites in plasma and (R)- and (S)-DHNK were the major metabolites found in urine. The results suggest that norKet is the initial, but not the primary metabolite and that downstream norKet metabolites play a role in (R,S)-Ket-related pain relief in CRPS patients. Published by Elsevier B.V.

  7. Clinical significance of determination of serum hypersensitive C reactive protein (HS-CRP) levels in patients with acute coronary syndrome (ACS)

    International Nuclear Information System (INIS)

    Zhai Chunxi; Zhang Fengju; Wang Kejun

    2005-01-01

    Objective: To study the relationship between changes in serum HS-CRP levels and the status of atherosclerotic plaques in patients with ACS. Methods: Serum HS-CRP levels were measured in 35 patients with ACS at admission, 1 week and 1 month later as well as in 30 controls without recent infection. Results: HS-CRP levels in patients with ACS were significantly higher than those in the controls (P<0.01). The levels were highest at admission and fell gradually. Conclusion: HS-CRP could be a marker reflecting the status of atherosclerotic plaques in patients with ACS. (authors)

  8. Vitamin K status in patients with short bowel syndrome.

    Science.gov (United States)

    Krzyżanowska, Patrycja; Książyk, Janusz; Kocielińska-Kłos, Małgorzata; Banaś, Elżbieta; Kaleta, Małgorzata; Popińska, Katarzyna; Szczapa, Tomasz; Walkowiak, Jarosław

    2012-12-01

    Available evidence suggests that patients with short bowel syndrome (SBS) might be at risk of vitamins A, D, E and B(1) deficiency. However, there is little clinical data describing the vitamin K status. Therefore, in the present study we aimed to assess the body resources of vitamin K in a subset of SBS patients. The study comprised 33 patients aged 1 month to 16 years. PIVKA-II concentrations were determined in all subjects. In all studied subjects, coagulation parameters were normal. PIVKA-II levels indicative of vitamin K deficiency was found in 3 (9.1%) SBS patients. One patient had been receiving an additional intravenous vitamin K dose of 5 mg/week. In all SBS patients with cirrhosis and cholestasis, PIVKA-II concentrations were low (vitamin K several times a month. Vitamin K deficiency may appear in SBS patients. Copyright © 2012. Published by Elsevier Ltd.

  9. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

    Science.gov (United States)

    Gandhi, N M; Bennett, D H

    2004-01-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

  10. Genotype-phenotype correlation in patients suspected of having Sotos syndrome

    NARCIS (Netherlands)

    de Boer, Lonneke; Kant, Sarina G.; Karperien, Marcel; van Beers, Lotte; Tjon, Jennifer; Vink, Geraldine R.; van Tol, Dewy; Dauwerse, Hans; le Cessie, Saskia; Beemer, Frits A.; van der Burgt, Ineke; Hamel, Ben C. J.; Hennekam, Raoul C.; Kuhnle, Ursula; Mathijssen, Inge B.; Veenstra-Knol, Hermine E.; Stumpel, Connie T. Schrander; Breuning, Martijn H.; Wit, Jan M.

    2004-01-01

    Background: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. Methods:

  11. Genotype-phenotype correlation in patients suspected of having sotos syndrome.

    NARCIS (Netherlands)

    Boer, L. de; Kant, S.; Karperien, M.; Beers, L. van; Tjon, J.; Vink, G.R.; Tol, D. van; Dauwerse, H.G.; Cessie, S. le; Beemer, F.A.; Burgt, C.J.A.M. van der; Hamel, B.C.J.; Hennekam, R.C.M.; Kuhnle, U.; Mathijssen, I.B.; Veenstra-Knol, H.E.; Stumpel, C.T.; Breuning, M.H.; Wit, J.M.

    2004-01-01

    BACKGROUND: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS:

  12. Clinical significance of determination of changes of serum TNF-α levels, peripheral B lymphocyte count and T lymphocyte subsets distribution pattern in patients with pregnancy induced hypertension syndrome

    International Nuclear Information System (INIS)

    Zhao Wenjuan

    2006-01-01

    Objective: To explore the changes of serum TNF-α levels, peripheral B cell count and T subsets distribution pattern in patients with pregnancy induced hypertension syndrome. Methods: Serum TNF-α levels (with RIA), peripheral B cell count as well as T subsets (with monoclonal technique) were examined in 34 patients with pregnancy induced hypertension syndrome and 35 controls. Results: The serum TNF-α levels and B lymphocytes count were significantly higher than those in controls (P 3 , CD 4 , CD4/CD8 ratio were significantly lower than those in controls (P<0.01). Conclusion: Pregnancy induced hY- pertension syndrome is a kind of autoimmune diseases with abnormal immunoregulation. (authors)

  13. Acute Respiratory Distress Syndrome in Obstetric Patients

    Directory of Open Access Journals (Sweden)

    S. V. Galushka

    2007-01-01

    Full Text Available Objective: to define the specific features of the course of acute respiratory distress syndrome (ARDS in puer-peras with a complicated postpartum period. Subjects and methods. Sixty-seven puerperas with ARDS were examined. Group 1 included 27 puerperas with postpartum ARDS; Group 2 comprised 10 puerperas who had been treated in an intensive care and died; Group 3 consisted of nonobstetric patients with ARDS of various genesis (a control group. Results. In obstetric patients, the baseline oxygenation index was significantly lower than that in the control group. However, Group 1 patients showed a rapid increase in PaO2/FiO2 on days 3—4 of treatment. In the control group, the changes occurred later — on days 5—6. The baseline alveolar-arterial oxygen difference was significantly higher in the obstetric patients than that in the controls. In Group 1, AaDpO2 drastically decreased on days 3—4, which took place in parallel with an increase in the oxygenation index. At the beginning of the study, pulmonary shunting was high in the group of survivors, deceased, and controls. In Group 1, the shunting decreased on days 3—4 whereas in the control group this index normalized later — only by days 6—7. In Group 1, compliance remained lower throughout the observation, but on day 7 there was a significant difference in this index between the deceased, survivors, and controls. Conclusion. Thus, more severe baseline pulmonary gas exchange abnormalities are observed in obstetric patients than in general surgical and traumatological patients; the oxygenation index, alveolar-arterial oxygen difference, and pulmonary shunting index more rapidly change in patients with severe obstetric disease in its favorable course than in general surgical and traumatological patients; throughout the observation, thoracopulmonary compliance was less in obstetric patients than in the controls. Key words: acute respiratory distress syndrome, puerperium.

  14. West syndrome in a patient with Schinzel-Giedion syndrome.

    Science.gov (United States)

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  15. Orthodontic treatment considerations in Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  16. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

    DEFF Research Database (Denmark)

    Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

    2015-01-01

    BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...

  17. The determination of the levels of burnout syndrome, organizational ...

    African Journals Online (AJOL)

    Context: The concept of burnout is an important element for efficiency in occupational groups such as health and education, which necessitate constant communication with people and have a busy schedule. Aims: The determination of the levels of burnout syndrome, organizational commitment, and job satisfaction of the ...

  18. Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

    Science.gov (United States)

    Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

    2018-06-06

    A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

  19. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    OpenAIRE

    Morgado, P; Ribeiro, R; Cerqueira, JJ

    2015-01-01

    Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient Introduction . Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method . We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Res...

  20. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Mariëlle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  1. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  2. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, M.G.; Vis, J.C.; Loon, R.L. van; Berger, R.M.; Hoendermis, E.S.; Dijk, A.P.J. van; Bouma, B.J.; Mulder, B.J.

    2009-01-01

    BACKGROUND: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. METHODS: In this open-label

  3. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  4. Metabolic Syndrome in Patients with Polycystic Ovary Syndrome in Iran

    Directory of Open Access Journals (Sweden)

    Ziba Zahiri

    2016-12-01

    Full Text Available Background: The prevalence of metabolic syndrome (MetS in polycystic ovary syndrome (PCOS has been studied in different populations, but their results were so controversial regarding Iranian women. These controversial data indicated the need for more investigation of MetS characteristics in PCOS patients in our population. So this study aimed to evaluate the clinical and laboratory characteristics and metabolic features of patients with PCOS in Rasht. Materials and Methods: This prospective cross sectional study was conducted on 215 PCOS women who lived in Rasht, north of Iran, from March 2010 to July 2012. The participants were then divided into two groups of women with MetS (n=62 and women without MetS (n=153. The diagnosis of PCOS and MetS were based on the Rotterdam 2003 criteria and the Adult Treatment Panel III (ATP III criteria, respectively. Demographic characteristics, fertility characteristics, family history and laboratory findings were assessed. Results: The prevalence of MetS in women with PCOS was 28.8%. In PCOS women of both groups, the waist circumference (WC exceeded 88cm in 72.6%, hypertension [systolic blood pressure (SBP and/or diastolic blood pressure (DBP ≥130/85mm Hg] was prevalent in 9.3%, fasting blood sugar (FBS level was ≥110 mg/dl in 6%, triglycerides (Tg level were ≥150 mg/dl in 47%, and high-density lipoprotein (HDL level was <50 mg/dl in 86%. The values of WC, SBP, DBP, body mass index (BMI, ovarian size, Tg, cholesterol, FBS, 2-hour blood sugar, aspartate aminotransferase (AST, and alanine aminotransferase (ALT were significantly greater in PCOS women with MetS than women without MetS. Also HDL and luteinizing hormone (LH levels in women with MetS were significantly lower than women without MetS. Conclusion: Prevalence of MetS in PCOS women was 28.8%, indicating that this value is higher than other studies conducted on PCOS women in Iran and other studies conducted on general population in Iran. PCOS women

  5. [Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

    Science.gov (United States)

    You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

    2008-04-01

    To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

  6. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  7. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  8. Metabolomic changes in patients with chronic obstructive pulmonary disease with abnormal Savda syndrome.

    Science.gov (United States)

    Xu, Wei-Fang; Upur, Halmurat; Wu, Yu-Hua; Mamtimin, Batur; Yang, Jian; Ga, Yong-Juan; You, Li

    2015-02-01

    The aim of this study was to determine the metabolic biomarkers for abnormal Savda syndrome in patients with chronic obstructive pulmonary disease (COPD). Based on Traditional Uyghur Medicine (TUM) theory, a total of 103 patients with COPD were classified into abnormal Savda and non-abnormal Savda syndrome groups and 52 healthy volunteers acted as the control group. Blood samples from the three groups were analyzed using nuclear magnetic resonance (NMR) spectroscopy combined with orthogonal projection to latent structure-discriminant analysis. NMR tests showed that the regional distributions of the patients with COPD with abnormal Savda syndrome, those with non-abnormal Savda syndrome and the control group were completely separate (P>0.05). The patients with COPD with abnormal Savda syndrome exhibited relatively low levels of amino acids, glycoproteins and unsaturated lipids (PAbnormal Savda syndrome was one of the main types of syndrome among the patients with COPD; increased age, a longer duration of illness and a higher disease severity were characteristic of this type of syndrome. In addition, the present study provided biochemical evidence for the TUM theory-based classification of patients with COPD; these biomarkers can be used in the clinic for the diagnosis of COPD with abnormal Savda syndrome. The study also demonstrated that the plasma metabolic disorder in patients with COPD with abnormal Savda syndrome was more serious than that in the control and COPD with non-abnormal Savda syndrome groups. The plasma metabolic disorder was also associated with a low immune function of the body and endocrine and energy metabolism disorders.

  9. Restless legs syndrome in hemodialysis patients

    Directory of Open Access Journals (Sweden)

    Shahram Rafie

    2016-01-01

    Full Text Available Restless legs syndrome (RLS is a neurological disorder characterized by uncomfortable sensation of paresthesia in legs that subsequently causes involuntary and continuous movement of the lower limbs, especially at rest. Its prevalence in hemodialysis is more than that in the general population. Different risk factors have been suggested for RLS. We studied the prevalence and risk factors of RLS in 137 hemodialysis patients followed up at our center. The patients completed at least three months on dialysis and fulfilled four criteria for the diagnosis of RLS. We compared the patients with and without RLS, and the odds ratios (ORs were estimated by the logistic regression models. The prevalence of RLS was 36.5% in the study patients. Among the variables, diabetes was the only predicting factor for the development of RLS. The diabetic patients may be afflicted with RLS 2.25 times more than the non-diabetics. Women developed severe RLS 5.23 times more than men. Neurodegeneration, decrease in dopamine level, higher total oxidant status, and neuropathy in diabetic patients may explain the RLS symptoms.

  10. Superior vena cava syndrome in hemodialysis patient

    Directory of Open Access Journals (Sweden)

    Azeb Molhem

    2011-01-01

    Full Text Available Obstruction of blood flow in the superior vena cava (SVC results in symptoms and signs of SVC syndrome. SVC obstruction can be caused either by invasion or external compression of the SVC by contagious pathologic processes involving the right lung, lymph nodes, and other mediastinal structures, or by thrombosis of blood within the SVC. Occasionally, both mechanisms co-exist. We hereby report a case of a 28-year-old male, Saudi patient who was diagnosed with end-stage renal disease and was maintained on regular hemodiaysis via right jugular vein dual lumen catheter for ten months. Three years later, the patient presented with signs and symptoms suggestive of SVC obstruction that was successfully managed with SVC stenting.

  11. Metabolic syndrome in patients with severe mental illness in Gorgan

    Science.gov (United States)

    Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

    2016-01-01

    Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

  12. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    Science.gov (United States)

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  13. Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome.

    Science.gov (United States)

    Pak, Stella; Kilgore, Andrew; Thornhill, Rosanne; Rako, Kyle; Meier, Ali; Pora, Gavriella; Costello, Jillian M; Dee, Christine

    2017-09-05

    Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism. We hope that this case adds to the scant body of knowledge about this patient population.

  14. COCHLEAR IMPLANTATION IN A PATIENT WITH USHER'S SYNDROME

    OpenAIRE

    Derinsu, Ufuk; Ciprut, Ayca

    2016-01-01

    Usher's Syndrome is an autosomal recessive disorder characterized by congenital hearing loss and retinitis pigmentosa. Usher’s Syndrome patients with severe to profound sensorineural hearing loss can be considered as candidates for cochlear implantation.This case study reports a deaf-blind with Usher's Syndrome who received a cochlear implant, the audiological evaluation is presented and the therapy sessions are discussed. The patient demonstrated good performance overtime after the...

  15. Cochlear hearing loss in patients with Laron syndrome.

    Science.gov (United States)

    Attias, Joseph; Zarchi, Omer; Nageris, Ben I; Laron, Zvi

    2012-02-01

    The aim of this prospective clinical study was to test auditory function in patients with Laron syndrome, either untreated or treated with insulin-like growth factor I (IGF-I). The study group consisted of 11 patients with Laron syndrome: 5 untreated adults, 5 children and young adults treated with replacement IGF-I starting at bone age Laron syndrome and may be prevented by starting treatment with IGF-I at an early developmental age.

  16. Catastrophizing in Patients with Burning Mouth Syndrome

    Directory of Open Access Journals (Sweden)

    Ana ANDABAK ROGULJ

    2014-01-01

    Full Text Available Background: Burning mouth syndrome (BMS is an idiopathic painful condition which manifests with burning sensations in the oral cavity in patients with clinically normal oral mucosa and without any local and/or systemic causative factor. Catastrophizing is defined as an exaggerated negative orientation toward pain stimuli and pain experience. The aim of this study was to examine the association between catastrophizing and clinical parameters of BMS, and to examine the association between catastrophizing and the quality of life in patients with BMS. Materials and methods: Anonymous questionnaire consisting of 3 parts (demographic and clinical data with 100 mm visual analogue scale (VAS, Croatian version of the Oral Health Impact Profile (OHIP-14 scale and Croatian version of the Pain Catastrophizing scale (PC, was distributed to 30 patients diagnosed with BMS. Results: A higher level of catastrophizing was clinically significant in 30% of the patients. Total catastrophizing score and all three subcomponents of catastrophizing significantly correlated with the intensity of symptoms, but did not correlate with the duration of symptoms. Gender and previous treatment did not affect the catastrophizing. Conclusion: Obtaining the information about catastrophizing could help a clinician to identify patients with negative behavioural patterns. Additional psychological intervention in these individuals could reduce/eliminate negative cognitive factors and improve coping with chronic painful condition such as BMS.

  17. Adherence to medications by patients after acute coronary syndromes.

    Science.gov (United States)

    Sud, Anchal; Kline-Rogers, Eva M; Eagle, Kim A; Fang, Jianming; Armstrong, David F; Rangarajan, Krishna; Otten, Richard F; Stafkey-Mailey, Dana R; Taylor, Stephanie D; Erickson, Steven R

    2005-11-01

    Nonadherence to medication may lead to poor medical outcomes. To describe medication-taking behavior of patients with a history of acute coronary syndromes (ACS) for 4 classes of drugs and determine the relationship between self-reported adherence and patient characteristics. Consenting patients with the diagnosis of ACS were interviewed by telephone approximately 10 months after discharge. The survey elicited data characterizing the patient, current medication regimens, beliefs about drug therapy, reasons for discontinuing medications, and adherence. The survey included the Beliefs About Medicine Questionnaire providing 4 scales: Specific Necessity, Specific Concerns, General Harm, and General Overuse, and the Medication Adherence Scale (MAS). Multivariate regression was used to determine the independent variables with the strongest association to the MAS. A p value or =1 other person, and 42% indicating excellent or very good health. The percentage of patients continuing on medication at the time of the survey category ranged from 87.4% (aspirin) to 66.0% (angiotensin-converting enzyme inhibitors). Reasons for stopping medication included physician discontinuation or adverse effects. Of patients still on drug therapy, the mean MAS was 1.3 +/- 0.4, with 53.8% indicating nonadherence (score >1). The final regression model showed R(2) = 0.132 and included heart-related health status and Specific Necessity as significant predictor variables. After ACS, not all patients continue their drugs or take them exactly as prescribed. Determining beliefs about illness and medication may be helpful in developing interventions aimed at improving adherence.

  18. Baraitser–Winter syndrome: An additional Egyptian patient with ...

    African Journals Online (AJOL)

    We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, ...

  19. [Anesthetic management of four patients with Fournier syndrome].

    Science.gov (United States)

    Sato, Rui; Tomioka, Toshiya; Orii, Ryo; Yamada, Yoshitsugu

    2008-03-01

    We experienced anesthetic managements of four patients with Fournier syndrome. In the anesthetic management of the patients with Fournier syndrome the following three points should be kept in mind; (a) the necessity of careful preoperative examination, (b) the better anesthesia, and (c) the careful postoperative care.

  20. Peters' plus syndrome in an Egyptian patient with some unusual ...

    African Journals Online (AJOL)

    Some of the features reported in Kabuki make-up syndrome were also present in our patient including mainly hepatomegaly and craniosynostosis. However in our patient some features were present not reported before in both syndromes including thick tounge, thick everted lower lip, anteverted naris, broad thumb and big ...

  1. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    Directory of Open Access Journals (Sweden)

    Pedro Morgado

    2015-01-01

    Full Text Available Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient’s symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  2. Geriatric syndromes in patients with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Tomasz Gołębiowski

    2016-06-01

    Full Text Available The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than among general population. The causes of higher prevalence of those syndromes are not well known, but uremic environment and overall renal replacement therapy may have an important impact on its progress. The patient with geriatric syndrome require comprehensive treatment as well as physical rehabilitation, psychiatric cure and support in everyday activities.Herein below we would like to review recent literature regarding to particular features of main geriatric syndromes in a group of nephrological patients.

  3. Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

    Science.gov (United States)

    D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

    2017-04-19

    The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.

  4. Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies.

    Science.gov (United States)

    Galland, Joris; Mohamed, Shirine; Revuz, Sabine; de Maistre, Emmanuel; de Laat, Bas; Marie, Pierre-Yves; Zuily, Stéphane; Lévy, Bruno; Regnault, Véronique; Wahl, Denis

    2016-07-01

    Lupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease. Five years later, he experienced the first systemic lupus erythematous flare. Within a few days, catastrophic antiphospholipid syndrome was diagnosed with heart, liver and kidney involvement. The patient recovered under pulse steroids, intravenous heparin and intravenous immunoglobulins.

  5. Interconnection between metabolic syndrome components in obese patients

    Directory of Open Access Journals (Sweden)

    E.G. Bayanova

    2017-03-01

    Full Text Available Background. The aim of our study is to deter­mine intercommunication between the indexes of insulin resistance, С-peptide, leptin, cortisol, thyroid hormones in obese patients. Materials and methods. The study involved 30 persons with the average body mass index (BMI 35.1 kg/м2. They were divided into three groups by this index depending on the obesity severity. Results. The indexes of insulin, С-peptide, HOMA index with the enhanced BMI had a tendency to the increase. Their average indexes were highest in patients with III stage obesity. An increased level of ТSH was determined for the 31 % patients of the first group, in 25 % patients of the second group and in 50 % patients of the third group. Free thyroxine (fТ4 level was highest in the patients of the second group, fТ4 indexes under 0.93 ng/dl were observed in 25 % patients of the first group and in 50 % patients of the third group. The cortisol level maximally rose in the patients of the second group and went down a little in the patients of the third group. The leptin indexes rose with the increase of BMI. Conclusions. Metabolic syndrome develops on a background of the decline of thyroid function and increase of insulin secretion.

  6. Patients with carcinoid syndrome exhibit symptoms of aggressive impulse dysregulation

    NARCIS (Netherlands)

    Russo, S; Boon, JC; Kema, IP; Willemse, PHB; den Boer, JA; Korf, J; de Vries, EGE

    2004-01-01

    Objective: Carcinoid tumors can produce excessive amounts of biogenic amines, notably serotonin. We assessed psychiatric symptoms in carcinoid patients and peripheral metabolism of tryptophan, the precursor of serotonin. Methods: Twenty consecutive patients with carcinoid syndrome underwent a

  7. Adropin Levels in Polycystic Ovary Syndrome Patients

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    Hacer Sen

    2017-01-01

    Full Text Available Aim: Polycystic ovary syndrome (PCOS is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP, homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin response. The aim of our study is to investigate the relationship between levels of adropin and insulin resistance in PCOS patients with insulin resistance and an increased risk of diabetes.Material and Method: Fifty-seven female patients (30 patients with PCOS and 27 healthy control subjects were enrolled in this study. All patient%u2019s body mass index and insulin resistance were calculated. The adropin levels were measured using commercial kits based on a competitive plasma EIA (enzyme immunoassay method. Results: The adropin levels in the patient group were 10.79 ng/L, while the value was 13.02 ng/L in the control group, and the difference was statistically significant (p=0.04. There was a significant negative correlation between the adropin levels and the insulin, aspartate aminotransferase (AST, triglyseride (TG, and homeostasis model assessment of insulin resistance (HOMA-IR levels (p=0.03, p=0.03, p=0.04, and p=0.02, respectively. Discussion: In our study, the adropin level which is associated with insulin resistance, was found to be decreased in patients with PCOS. We think that it would be valuable to conduct new studies for the evaluation of adropin related clinical conditions leading to insulin resistance in patients with PCOS.

  8. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  9. [Refeeding syndrome in geriatric patients : A frequently overlooked complication].

    Science.gov (United States)

    Wirth, Rainer; Diekmann, Rebecca; Fleiter, Olga; Fricke, Leonhardt; Kreilkamp, Annika; Modreker, Mirja Katrin; Marburger, Christian; Nels, Stefan; Schaefer, Rolf; Willschrei, Heinz-Peter; Volkert, Dorothee

    2018-01-01

    The refeeding syndrome is a life-threatening complication that can occur after initiation of a nutrition therapy in malnourished patients. If the risk factors and pathophysiology are known, the refeeding syndrome can effectively be prevented and treated, if recognized early. A slow increase of food intake and the close monitoring of serum electrolyte levels play an important role. Because the refeeding syndrome is not well known and the symptoms may vary extremely, this complication is poorly recognized, especially against the background of geriatric multimorbidity. This overview is intended to increase the awareness of the refeeding syndrome in the risk group of geriatric patients.

  10. Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Lewis, I; Pairman, J; Spickett, G; Newton, J L

    2013-05-01

    A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

  11. Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

    Science.gov (United States)

    Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong

    2017-06-01

    Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.

  12. Restless legs syndrome in patients on dialysis

    International Nuclear Information System (INIS)

    AlJahdali, Hamdan H; AlQadhi, Waleed A; Khogeer, Haithm A; AlHejaili, Fayez F; Al Sayyari, Abdullah A; AlGhamdi, Saeed M

    2009-01-01

    Restless legs syndrome (RLS) is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG). This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD) on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH), Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC), Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG's RLS Questionnaire (RLSQ). Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 + - 17.2 years and mean duration on dialysis 40.4 + - 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM), coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively). Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS) (P= < 0.001 and 0.001, respectively). Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis and

  13. Restless legs syndrome in patients on dialysis

    Directory of Open Access Journals (Sweden)

    Al-Jahdali Hamdan

    2009-01-01

    Full Text Available Restless legs syndrome (RLS is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG. This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH, Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC, Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG′s RLS Questionnaire (RLSQ. Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 ± 17.2 years and mean duration on dialysis 40.4 ± 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM, coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively. Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS (P= < 0.001 and 0.001, respectively. Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis

  14. Research advances in traditional Chinese medicine syndromes in cancer patients.

    Science.gov (United States)

    Ji, Qing; Luo, Yun-quan; Wang, Wen-hai; Liu, Xuan; Li, Qi; Su, Shi-bing

    2016-01-01

    Traditional Chinese medicine (TCM) syndrome, also known as TCM ZHENG or TCM pattern, is an integral and essential part of TCM theory that helps to guide the design of individualized treatments. A TCM syndrome, in essence, is a characteristic profile of all clinical manifestations in one patient that can be readily identified by a TCM practitioner. In this article, the authors reviewed the presentations of TCM syndromes in seven common malignancies (liver, lung, gastric, breast, colorectal, pancreatic and esophageal cancers), the objectivity and the standardization of TCM syndrome differentiation, the evaluation of TCM syndrome modeling in cancer research, and syndrome differentiation-guided TCM treatment of cancers. A better understanding of TCM syndrome theory, as well as its potential biological basis, may contribute greatly to the clinical TCM diagnosis and the treatment of cancer.

  15. Gender differences in patients with obesity hypoventilation syndrome.

    Science.gov (United States)

    BaHammam, Ahmed S; Pandi-Perumal, Seithikurippu R; Piper, Amanda; Bahammam, Salman A; Almeneessier, Aljohara S; Olaish, Awad H; Javaheri, Shahrokh

    2016-08-01

    The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P obesity hypoventilation syndrome were significantly older than men with obesity hypoventilation syndrome (61.5 ± 11.9 years versus 49.1 ± 12.5 years, P differences between genders regarding symptoms, body mass index, spirometric data or daytime PaCO2 , women with obesity hypoventilation syndrome suffered significantly more from hypertension, diabetes and hypothyroidism. The prevalence of obesity hypoventilation syndrome was higher in post-menopausal (21%) compared with pre-menopausal (5.3%) women (P obesity hypoventilation syndrome. In conclusion, this study reported that among subjects referred to the sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. © 2016

  16. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. Femur Neck Fracture in a Young Marfan Syndrome Patient.

    Science.gov (United States)

    Kwon, Yong-Uk; Kong, Gyu-Min; Park, Jun-Ho

    2016-12-01

    Marfan syndrome is an autosomal dominant and could decrease bone mineral density. So patients with Marfan syndrome could vulnerable to trauma in old ages. We present the first report, to the best of our knowledge, of a rare fracture of the femoral neck with a minor traumatic history in a juvenile Marfan syndrome patient whose physis is still open. Although the patient is young, her bone mineral density was low and the geometry of femur is changed like old ages. The femur neck fracture in children is very rare and only caused by high energy trauma, we concluded that the Marfan syndrome makes the bone weaker in young age and preventative medications to avoid fractures in younger Marfan syndrome patients are necessary in early ages.

  18. Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

    Science.gov (United States)

    Niaz, Talha; Poterucha, Joseph T; Olson, Timothy M; Johnson, Jonathan N; Craviari, Cecilia; Nienaber, Thomas; Palfreeman, Jared; Cetta, Frank; Hagler, Donald J

    2018-02-01

    In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review. A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006). Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation. Copyright © 2017 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

  19. Cardiac findings in 31 patients with Noonan's syndrome

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    2000-01-01

    Full Text Available OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 femalespatients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

  20. Obese patients with type 2 diabetes submitted to banded gastric bypass: greater incidence of dumping syndrome.

    Science.gov (United States)

    Padoin, Alexandre Vontobel; Galvão Neto, Manoel; Moretto, Myriam; Barancelli, Fabiano; Schroer, Caroline Eckerdt; Mottin, Cláudio Corá

    2009-11-01

    Dumping syndrome is one of ten most common complications in morbidly obese patients operated. Recent studies in relation to type 2 diabetes mellitus (DM2) in patients submitted to gastric bypass led us to examine the different outcomes in this group of patients. Our objective was to determine the difference in the prevalence of dumping syndrome in patients with DM2 submitted to gastric bypass. In this retrospective study, 49 diabetic and 54 non-diabetic morbidly obese patients were submitted to gastric bypass and followed up at 3, 6, and 12 months after surgery. The occurrence of dumping was determined by the patient's medical chart, where it was considered positive if recorded in at least one of three evaluations. The 103 patients evaluated had a mean BMI of 49.5 +/- 9.3 kg/m(2) and mean age of 38 +/- 9.7 years, with 75.7% being women. The prevalence of dumping syndrome in this population was 24.3%. The prevalence of dumping was greater in patients with DM2 (44.9%) when compared to the control group (5.6%; p DM2 as the only variable associated with dumping syndrome. Dumping syndrome is a common postoperative complication in gastric bypass. Patients with DM2 show a greater postoperative prevalence of dumping.

  1. Secondary Sjogren's Syndrome in 83 Patients With Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Asghar Hajiabbasi

    2016-07-01

    Full Text Available Sjogren syndrome (SS can occur alone, primary Sjogren syndrome, or in association with other rheumatic diseases, secondary Sjogren syndrome (sSS, such as Rheumatoid arthritis (RA. The occurrence of Sjogren syndrome with RA makes it course worse and increases high morbidity and mortality of RA. In this exploratory study we aim to determine the prevalence of sSS (diagnosed based on the revised version of American–European consensus Group Classification Criteria: AUCG-criteria, sicca symptoms (dry eye, dry mouth, positive autoantibody tests (Anti RO or Anti-LA antibodies, UWSFR (Unstimulated Whole Salivary Flow Rate, Schirmer and Lissamine test. In this cross-sectional study, eighty three consecutive RA patients (according to American College of Rheumatology criteria 1987 who were visited at rheumatology clinic of Razi General Hospital located in the north of Iran entered into our study. Our exclusion criteria was a positive history of past head and neck radiation treatment, Hepatitis C infection, acquired immunodeficiency disease (AIDS, pre-existing lymphoma, sarcoidosis, graft versus host disease, use of anticholinergic drugs (including neuroleptics, antidepressants, antihypertensive and parasympatholytics. They examined with UWSFR by a rheumatologist and with Schirmer test and Lissamine test by an ophthalmologist. Participants were 90.4% female with the mean age 48.3±13 years. Duration of RA was in 36.1% less than 5 years, in 22.9% 5-10 years, in 12.1% 11-15 years and in 28.9% more than 15 years. Our results demonstrated that the prevalence of sSS was 5.9% (CI:0.6%-10.5%. Number of 27.7% of RA patients positively responded to at least one question about sicca symptoms. Among objective tests, only Positive UWSFR and Lissamine test were significantly more common in RA patients with sSS in comparison to ones without sSS (P<0.001, P=0.01 respectively. In RA patients, we found a linear trend between sicca symptoms and aging (P=0.02. In patients

  2. Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

    Science.gov (United States)

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

    2014-11-01

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

  3. Characterization of Burning Mouth Syndrome in Patients with Parkinson's Disease.

    Science.gov (United States)

    Bonenfant, David; Rompré, Pierre H; Rei, Nathalie; Jodoin, Nicolas; Soland, Valerie Lynn; Rey, Veronica; Brefel-Courbon, Christine; Ory-Magne, Fabienne; Rascol, Olivier; Blanchet, Pierre J

    2016-01-01

    To determine the prevalence and characteristics of burning mouth syndrome (BMS) in a Parkinson's disease (PD) population through a self-administered, custom-made survey. A total of 218 surveys were collected during regular outpatient visits at two Movement Disorders Clinics in Montreal (Canada) and Toulouse (France) to gather information about pain experience, PD-related symptoms, and oral and general health. A neurologist confirmed the diagnosis of PD, drug treatment, Hoehn-Yahr stage, and Schwab & England Activity of Daily Living score. Data between groups were compared using the independent samples Mann-Whitney U test and two-sided exact Fisher test. Data from 203 surveys were analyzed. BMS was reported by eight subjects (seven females and one male), resulting in a prevalence of 4.0% (95% confidence interval [CI] = 2.1-7.8). Five participants with chronic nonburning oral pain were excluded. PD severity and levodopa equivalent daily dose did not differ between non-BMS and BMS participants. Mean poor oral health index was higher in BMS compared to non-BMS subjects (49.0 vs 32.2 points, P syndrome. This survey yielded a low prevalence of BMS in PD patients, indicating no strong link between the two conditions. An augmenting effect such as that resulting from drug treatment in restless legs syndrome or sensory neuropathy cannot be excluded.

  4. The effect of metabolic syndrome components on exercise performance in patients with intermittent claudication.

    Science.gov (United States)

    Gardner, Andrew W; Montgomery, Polly S

    2008-06-01

    To determine the effect of metabolic syndrome components on intermittent claudication, physical function, health-related quality of life, and peripheral circulation in patients with peripheral arterial disease (PAD), and to identify the metabolic syndrome components most predictive of each outcome measure. Patients limited by intermittent claudication with three (n = 48), four (n = 45), or five (n = 40) components of metabolic syndrome were studied. Patients were assessed on PAD-specific measures consisting of ankle-brachial index (ABI), initial claudication distance, absolute claudication distance, physical function measures, health-related quality of life, and calf blood flow and transcutaneous oxygen tension responses after 3 minutes of vascular occlusion. Initial claudication distance (mean +/- SD) progressively declined (P = .019) in those with three (203 +/- 167 m), four (124 +/- 77 m), and five (78 +/- 57 m) metabolic syndrome components, and absolute claudication distance progressively declined (P = .036) in these groups as well (414 +/- 224 m vs 323 +/- 153 m vs 249 +/- 152 m, respectively). Furthermore, compared with patients with only three components of metabolic syndrome, those with all five components had impaired values (P obesity was the predictor (P fasting glucose was the predictor (P intermittent claudication, physical function, health-related quality of life, and peripheral circulation. Abdominal obesity and elevated fasting glucose are the metabolic syndrome components that are most predictive of these outcome measures. Aggressively treating these metabolic syndrome components may be particularly important in managing symptoms and long-term prognosis of PAD patients.

  5. The Bentall procedure in patients with Marfan's syndrome.

    Science.gov (United States)

    Nguyen, K H; Ergin, M A; Galla, J D; Lansman, S L; McCullough, J N; Griepp, R B

    1997-01-01

    From 1985 to 1996, 18 patients with Marfan's syndrome underwent the Bentall procedure at Mount Sinai Hospital. They are compared with 38 patients aged Marfan's syndrome who also underwent composite valve-graft replacement of the ascending aorta. The mean age of the non-Marfan group was 33 while that of the Marfan group was 29. Nearly three-quarters of each group were male. Aortic dissection was present in 33% of the Marfan group but only in 18% of the other group. Seventy-eight percent of the Marfan patients and 89% of the non-Marfan patients had aortic regurgitation. Twenty-one percent of the patients in the control group nevertheless had gross aortic pathology suggestive of Marfan's syndrome and may have had variants of the syndrome; 26% of the non-Marfan group had a bicuspid aortic valve. A modification of the Bentall procedure with implantation of coronary artery buttons was performed in the majority of the patients in both groups. Three patients, all in the group with Marfan's syndrome, required a concomitant mitral valve procedure. There was one death in each group. Two non-Marfan patients required reoperation; neither had dissection. Four patients with Marfan's syndrome underwent reoperation for distal disease in the aorta; they comprised one third of the Marfan patients who had aortic dissection. Three late complications occurred in the group with Marfan's syndrome: progressive cardiomyopathy; myocardial infarction; and late tamponade. There were also two late sudden deaths in the group with Marfan's syndrome, which may have been the consequence of aortic rupture. No difference in immediate operative mortality following the Bentall procedure was noted between patients with and without Marfan's syndrome, but young patients without Marfan's syndrome seem to have better event-free and long-term survival. In patients with Marfan's syndrome, the presence of acute dissection makes reoperation more likely, and sudden death from rupture still occurs despite careful

  6. Serum Progranulin Levels in Type 2 Diabetic Patients with Metabolic Syndrome.

    Science.gov (United States)

    Shafaei, Azam; Marjani, Abdoljalal; Khoshnia, Masoud

    2016-12-01

    The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls. The study included 60 patients with type 2 diabetes and 30 healthy individuals as control groups. Biochemical parameters and progranulin levels were determined. Subjects with metabolic syndrome showed significantly higher levels of triglyceride, waist circumference, BMI, systolic and diastolic blood pressure than subjects without metabolic syndrome and the control groups, while HDL-cholesterol level was significantly lower in subjects with metabolic syndrome. Fasting blood sugar was significantly higher in type 2 diabetic patients than in the control groups. Serum level of progranulin was slightly increased in subjects with metabolic syndrome. Serum progranulin level had no significant relationship with metabolic syndrome components. Serum progranulin was also not dependent on cardiometabolic risk factors for subjects with metabolic syndrome, but it could be considered for the management of type 2 diabetes mellitus. Further studies are recommended to explain the effect of progranulin on the pathogenesis of metabolic risk factors.

  7. Metabolic syndrome and its characteristics among obese patients attending an obesity clinic.

    Science.gov (United States)

    Termizy, H M; Mafauzy, M

    2009-04-01

    The increased prevalence of metabolic syndrome worldwide is closely related to the rising obesity epidemic. The objectives of the study were to determine the prevalence and identify the associated and prognostic factors that influence the risk of metabolic syndrome among obese patients attending the Obesity Clinic at Hospital Universiti Sains Malaysia. A study was conducted involving 102 obese persons who attended the Obesity Clinic from January 1 to December 31, 2005. Metabolic syndrome was defined according to the International Diabetes Federation criteria. The overall prevalence of metabolic syndrome among obese patients was 40.2 percent. The prevalence was higher in females (43.7 percent) than in males (32.3 percent). The prevalence of metabolic syndrome was noted to increase with increasing body mass index class, from class 1 to class 2. However, the prevalence was lower in obesity class 3. The prevalence of metabolic comorbidities of raised blood pressure, reduced high density lipoprotein, high triglyceride and raised fasting blood glucose was 42, 40, 36 and 17 percent, respectively. A quarter of obese patients in this study had no other comorbidity. Based on logistic regression multivariable analysis, age was the only significant associated factor that influenced the risk of having metabolic syndrome. The prevalence of metabolic syndrome was high and the highest comorbidity was high blood pressure. Age was the only significant risk factor of having this syndrome.

  8. Anthropometric Indicators Predict Metabolic Syndrome Diagnosis in Maintenance Hemodialysis Patients.

    Science.gov (United States)

    Vogt, Barbara Perez; Ponce, Daniela; Caramori, Jacqueline Costa Teixeira

    2016-06-01

    Obesity has been considered the key in metabolic syndrome (MetS) development, and fat accumulation may be responsible for the occurrence of metabolic abnormalities in hemodialysis patients. The use of gold-standard methods to evaluate obesity is limited, and anthropometric measures may be the simplest methods. However, no study has investigated the association between anthropometric indexes and MetS in these patients. Therefore, the aim was to determine which anthropometric indexes had the best association and prediction for MetS in patients undergoing hemodialysis. Cross-sectional study that included patients older than 18 years, undergoing hemodialysis for at least 3 months. Patients with liver disease and cancer or those receiving corticosteroids or antiretroviral therapy were excluded. Diagnostic criteria from Harmonizing Metabolic Syndrome were used for the diagnosis of MetS. Anthropometric indexes evaluated were body mass index (BMI); percent standard of triceps skinfold thickness and of middle arm muscle circumference; waist circumference (WC); sagittal abdominal diameter; neck circumference; waist-to-hip, waist-to-thigh, and waist-to-height ratios; sagittal index; conicity index; and body fat percentage. Ninety-eight patients were included, 54.1% male, and mean age was 57.8 ± 12.9 years. The prevalence of MetS was 74.5%. Individuals with MetS had increased accumulation of abdominal fat and general obesity. Waist-to-height ratio was the variable independently associated with MetS diagnosis (odds ratio, 1.21; 95% confidence interval, 1.09-1.34; P < .01) and that better predicts MetS, followed by WC and BMI (area under the curve of 0.840, 0.836, and 0.798, respectively, P < .01). Waist-to-height ratio was the best anthropometric predictor of MetS in maintenance hemodialysis patients. © 2015 American Society for Parenteral and Enteral Nutrition.

  9. Severe obstructive sleep apnoea syndrome in an adult patient with Laron syndrome.

    Science.gov (United States)

    Dagan, Y; Abadi, J; Lifschitz, A; Laron, Z

    2001-08-01

    A 68 year old patient with Laron syndrome (primary growth hormone (GH) resistance-insensitivity due to a molecular defect of the GH receptor) and severe obstructive sleep apnoea syndrome is described. Treatment with continuous positive air pressure therapy resulted in improved nocturnal sleep, daytime alertness and cognitive functions. Copyright 2001 Harcourt Publishers Ltd.

  10. Decreased sweating in seven patients with Laron syndrome

    DEFF Research Database (Denmark)

    Main, K M; Price, D A; Savage, M O

    1993-01-01

    patients with Laron syndrome, measured by pilocarpine iontophoresis. The patients had significantly lower SSRs than healthy children matched for sex and pubertal stage (P ...). These observations further supported the hypothesis that sweat gland function in humans is under the influence of the GH-insulin-like growth factor-I axis. It remains to be seen whether the decrease in SSR also leads to altered thermoregulation in patients with Laron syndrome....

  11. Geriatric syndromes in patients with chronic kidney disease

    OpenAIRE

    Tomasz Gołębiowski; Hanna Augustyniak-Bartosik; Wacław Weyde; Marian Klinger

    2016-01-01

    The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than ...

  12. Primary headaches in restless legs syndrome patients

    Directory of Open Access Journals (Sweden)

    Ravi Gupta

    2012-01-01

    Full Text Available Earlier studies conducted among migraineurs have shown an association between migraine and restless legs syndrome (RLS. We chose RLS patients and looked for migraine to exclude sample bias. Materials and Methods: 99 consecutive subjects of idiopathic RLS were recruited from the sleep clinic during four months period. Physician diagnosis of headache and depressive disorder was made with the help of ICHD-2 and DSM-IV-TR criteria, respectively. Sleep history was gathered. Severity of RLS and insomnia was measured using IRLS (Hindi version and insomnia severity index Hindi version, respectively. Chi-square test, one way ANOVA and t-test were applied to find out the significance. Results: Primary headache was seen in 51.5% cases of RLS. Migraine was reported by 44.4% subjects and other types of ′primary headaches′ were reported by 7.1% subjects. Subjects were divided into- RLS; RLS with migraine and RLS with other headache. Females outnumbered in migraine subgroup (χ2 =16.46, P<0.001. Prevalence of depression (χ2 =3.12, P=0.21 and family history of RLS (χ2 =2.65, P=0.26 were not different among groups. Severity of RLS (P=0.22 or insomnia (P=0.43 were also similar. Conclusion: Migraine is frequently found in RLS patients in clinic based samples. Females with RLS are prone to develop migraine. Depression and severity of RLS or insomnia do not affect development of headache.

  13. Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair

    International Nuclear Information System (INIS)

    Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T.; Ichihashi, M.

    1996-01-01

    Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author)

  14. [Psychiatric disturbances in five patients with MELAS syndrome].

    Science.gov (United States)

    Magner, Martin; Honzik, Tomas; Tesarova, Marketa; Dvorakova, Veronika; Hansiková, Hana; Raboch, Jiři; Zeman, Jiři

    2014-01-01

    Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age with a broad spectrum of clinical symptoms, including psychiatric disorders. The aim of the study was to characterize psychiatric symptoms and diagnoses in five patients with MELAS syndrome between the ages of 17 and 53 years. Four of MELAS patients them harbored the prevalent mitochondrial DNA (mtDNA) mutation 3243A>G, and one patient had the mtDNA mutation 12706T>C. Three patients had positive family histories for MELAS syndrome. In one patient, depression was diagnosedas the first symptom ofMELAS syndrome. Depression also preceded a stroke-like episode in one patient. Four patients had disturbed cognitive functions, confusional states occurred in three patients. One patient manifested psychotic (schizophrenia-like) symptoms. Mitochondrial disorders deserve consideration as part of the differential diagnosis, especially, if there is suspected involvement of other organ groups or positive family history of MD.

  15. Therapy with recombinant human erythropoietin in patients with myelodysplastic syndromes.

    Science.gov (United States)

    Stone, R M; Bernstein, S H; Demetri, G; Facklam, D P; Arthur, K; Andersen, J; Aster, J C; Kufe, D

    1994-10-01

    We conducted a Phase I-II trial of recombinant human erythropoietin-beta (rhEPO) in patients with myelodysplastic syndrome (MDS). Patients with anemia and pathologically confirmed MDS were eligible for the study. Treatment consisted of rhEPO by subcutaneous injection thrice weekly for 6 weeks at one of three dose levels (100 U/kg (three patients), 200 U/kg (three patients) and 400 U/kg (14 patients)). Ferrous sulfate (325 mg po tid) was also administered if the transferrin saturation was below 30% (two patients). Patients were monitored with weekly CBC, white cell differential, and reticulocyte counts. Bone marrow examinations were performed at the conclusion of the treatment period and after a 2 week washout period. Patients who responded to therapy were continued on rhEPO at the same dose for 6 additional months. Response criteria included: 50% reduction in transfusion requirements compared with the 6 week pre-study period; doubling of reticulocyte count that was maintained on two determinations at least 1 week apart; or an increase in hemoglobin by at least 1.2 gm/dl without transfusions. Pre-treatment factors potentially predictive of response were analyzed by univariate analysis and in a multivariate fashion by classification and regression trees. Seven of the twenty patients sustained an untransfused rise in serum hemoglobin > or = 1.2 gm/dl. Four of the sixteen patients (including three of seven patients experiencing a rise in serum hemoglobin) who were transfusion-dependent prior to the study achieved a reduction or elimination of their transfusion requirements. Five of thirteen patients who received rhEPO during the extension phase had a continued response. A low baseline erythropoietin level (< 50 mU/ml) was the best predictor of hemoglobin response when controlling for other variables. rhEPO has a role in the treatment of certain patients with MDS, particularly in those whose endogenous serum erythropoietin levels are not markedly elevated.

  16. Lenz microphthalmic syndrome in an Indian patient

    Directory of Open Access Journals (Sweden)

    Gupta Arvind

    2007-01-01

    Full Text Available A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

  17. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

    DEFF Research Database (Denmark)

    Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

    2014-01-01

    There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

  18. Noninvasive Ventilation of Patients with Acute Respiratory Distress Syndrome Insights from the LUNG SAFE Study

    NARCIS (Netherlands)

    Bellani, Giacomo; Laffey, John G.; Pham, Tài; Madotto, Fabiana; Fan, Eddy; Brochard, Laurent; Esteban, Andres; Gattinoni, Luciano; Bumbasirevic, Vesna; Piquilloud, Lise; van Haren, Frank; Larsson, Anders; McAuley, Daniel F.; Bauer, Philippe R.; Arabi, Yaseen M.; Ranieri, Marco; Antonelli, Massimo; Rubenfeld, Gordon D.; Thompson, B. Taylor; Wrigge, Hermann; Slutsky, Arthur S.; Pesenti, Antonio; Rios, Fernando; Sottiaux, T.; Depuydt, p; Lora, Fredy S.; Azevedo, Luciano Cesar; Bugedo, Guillermo; Qiu, Haibo; Gonzalez, Marcos; Silesky, Juan; Cerny, Vladimir; Nielsen, Jonas; Jibaja, Manuel; Matamis, Dimitrios; Ranero, Jorge Luis; Amin, Pravin; Hashemian, S. M.; Clarkson, Kevin; Kurahashi, Kiyoyasu; Villagomez, Asisclo; Zeggwagh, Amine Ali; Heunks, Leo M.; Laake, Jon Henrik; Palo, Jose Emmanuel; do Vale Fernandes, Antero; Sandesc, Dorel; Arabi, Yaasen; Bumbasierevic, Vesna; Nin, Nicolas; Lorente, Jose A.; Abroug, Fekri; McNamee, Lia; Hurtado, Javier; Bajwa, Ed; Démpaire, Gabriel; Francois, Guy M.; Sula, Hektor; Nunci, Lordian; Cani, Alma; Zazu, Alan; Dellera, Christian; Insaurralde, Carolina S.; Alejandro, Risso V.; Daldin, Julio; Vinzio, Mauricio; Fernandez, Ruben O.; Cardonnet, Luis P.; Bettini, Lisandro R.; Bisso, Mariano Carboni; Osman, Emilio M.; Setten, Mariano G.; Lovazzano, Pablo; Alvarez, Javier; Villar, Veronica; Pozo, Norberto C.; Grubissich, Nicolas; Plotnikow, Gustavo A.; Vasquez, Daniela N.; Ilutovich, Santiago; Tiribelli, Norberto; Chena, Ariel; Pellegrini, Carlos A.; Saenz, María G.; Estenssoro, Elisa; Brizuela, Matias; Gianinetto, Hernan; Gomez, Pablo E.; Cerrato, Valeria I.; Bezzi, Marco G.; Borello, Silvina A.; Loiacono, Flavia A.; Fernandez, Adriana M.; Knowles, Serena; Reynolds, Claire; Inskip, Deborah M.; Miller, Jennene J.; Kong, Jing; Whitehead, Christina; Bihari, Shailesh; Seven, Aylin; Krstevski, Amanda; Rodgers, Helen J.; Millar, Rebecca T.; Mckenna, Toni E.; Bailey, Irene M.; Hanlon, Gabrielle C.; Aneman, Anders; Lynch, Joan M.; Azad, Raman; Neal, John; Woods, Paul W.; Roberts, Brigit L.; Kol, Mark R.; Wong, Helen S.; Riss, Katharina C.; Staudinger, Thomas; Wittebole, Xavier; Berghe, Caroline; Bulpa, Pierre A.; Dive, Alain M.; Verstraete, Rik; Lebbinck, Herve; Depuydt, Pieter; Vermassen, Joris; Meersseman, Philippe; Ceunen, Helga; Rosa, Jonas I.; Beraldo, Daniel O.; Piras, Claudio; Rampinelli, Adenilton M.; Nassar Jr, Antonio P.; Mataloun, Sergio; Moock, Marcelo; Thompson, Marlus M.; Gonçalves, Claudio H.; Antônio, Ana Carolina P.; Ascoli, Aline; Biondi, Rodrigo S.; Fontenele, Danielle C.; Nobrega, Danielle; Sales, Vanessa M.; Shindhe, Suresh; Aiman, Maizatul; Laffey, John; Beloncle, Francois; Davies, Kyle G.; Cirone, Rob; Manoharan, Venika; Ismail, Mehvish; Goligher, Ewan C.; Jassal, Mandeep; Nishikawa, Erin; Javeed, Areej; Curley, Gerard; Rittayamai, Nuttapol; Parotto, Matteo; Ferguson, Niall D.; Mehta, Sangeeta; Knoll, Jenny; Pronovost, Antoine; Canestrini, Sergio; Bruhn, Alejandro R.; Garcia, Patricio H.; Aliaga, Felipe A.; Farías, Pamela A.; Yumha, Jacob S.; Ortiz, Claudia A.; Salas, Javier E.; Saez, Alejandro A.; Vega, Luis D.; Labarca, Eduardo F.; Martinez, Felipe T.; Carreño, Nicolás G.; Lora, Pilar; Liu, Haitao; Liu, Ling; Tang, Rui; Luo, Xiaoming; An, Youzhong; Zhao, Huiying; Gao, Yan; Zhai, Zhe; Ye, Zheng L.; Wang, Wei; Li, Wenwen; Li, Qingdong; Zheng, Ruiqiang; Yu, Wenkui; Shen, Juanhong; Li, Xinyu; Yu, Tao; Wu, Ya Q.; Huang, Xiao B.; He, Zhenyang; Lu, Yuanhua; Han, Hui; Zhang, Fan; Sun, Renhua; Wang, Hua X.; Qin, Shu H.; Zhu, Bao H.; Zhao, Jun; Liu, Jian; Li, Bin; Liu, Jing L.; Zhou, Fa C.; Li, Qiong J.; Zhang, Xing Y.; Li-Xin, Zhou; Xin-Hua, Qiang; Jiang, Liangyan; Gao, Yuan N.; Zhao, Xian Y.; Li, Yuan Y.; Li, Xiao L.; Wang, Chunting; Yao, Qingchun; Yu, Rongguo; Chen, Kai; Shao, Huanzhang; Qin, Bingyu; Huang, Qing Q.; Zhu, Wei H.; Hang, Ai Y.; Hua, Ma X.; Li, Yimin; Xu, Yonghao; Di, Yu D.; Ling, Long L.; Qin, Tie H.; Wang, Shou H.; Qin, Junping; Han, Yi; Zhou, Suming; Vargas, Monica P.; Silesky Jimenez, Juan I.; González Rojas, Manuel A.; Solis-Quesada, Jaime E.; Ramirez-Alfaro, Christian M.; Máca, Jan; Sklienka, Peter; Gjedsted, Jakob; Christiansen, Aage; Villamagua, Boris G.; Llano, Miguel; Burtin, Philippe; Buzancais, Gautier; Beuret, Pascal; Pelletier, Nicolas; Mortaza, Satar; Mercat, Alain; Chelly, Jonathan; Jochmans, Sébastien; Terzi, Nicolas; Daubin, Cédric; Carteaux, Guillaume; de Prost, Nicolas; Chiche, Jean-Daniel; Daviaud, Fabrice; Pham, Tai; Fartoukh, Muriel; Barberet, Guillaume; Biehler, Jerome; Dellamonica, Jean; Doyen, Denis; Arnal, Jean-Michel; Briquet, Anais; Hraiech, Sami; Papazian, Laurent; Follin, Arnaud; Roux, Damien; Messika, Jonathan; Kalaitzis, Evangelos; Dangers, Laurence; Combes, Alain; Au, Siu-Ming; Béduneau, Gaetan; Carpentier, Dorothée; Zogheib, Elie H.; Dupont, Herve; Ricome, Sylvie; Santoli, Francesco L.; Besset, Sebastien L.; Michel, Philippe; Gelée, Bruno; Danin, Pierre-Eric; Goubaux, Bernard; Crova, Philippe J.; Phan, Nga T.; Berkelmans, Frantz; Badie, Julio C.; Tapponnier, Romain; Gally, Josette; Khebbeb, Samy; Herbrecht, Jean-Etienne; Schneider, Francis; Declercq, Pierre-Louis M.; Rigaud, Jean-Philippe; Duranteau, Jacques; Harrois, Anatole; Chabanne, Russell; Marin, Julien; Bigot, Charlene; Thibault, Sandrine; Ghazi, Mohammed; Boukhazna, Messabi; Zein, Salem Ould; Richecoeur, Jack R.; Combaux, Daniele M.; Grelon, Fabien; Le Moal, Charlene; Sauvadet, Elise P.; Robine, Adrien; Lemiale, Virginie; Reuter, Danielle; Dres, Martin; Demoule, Alexandre; Goldgran-Toledano, Dany; Baboi, Loredana; Guérin, Claude; Lohner, Ralph; Kraßler, Jens; Schäfer, Susanne; Zacharowski, Kai D.; Meybohm, Patrick; Reske, Andreas W.; Simon, Philipp; Hopf, Hans-Bernd F.; Schuetz, Michael; Baltus, Thomas; Papanikolaou, Metaxia N.; Papavasilopoulou, Theonymfi G.; Zacharas, Giannis A.; Ourailogloy, Vasilis; Mouloudi, Eleni K.; Massa, Eleni V.; Nagy, Eva O.; Stamou, Electra E.; Kiourtzieva, Ellada V.; Oikonomou, Marina A.; Avila, Luis E.; Cortez, Cesar A.; Citalán, Johanna E.; Jog, Sameer A.; Sable, Safal D.; Shah, Bhagyesh; Gurjar, Mohan; Baronia, Arvind K.; Memon, Mohammedfaruk; Muthuchellappan, Radhakrishnan; Ramesh, Venkatapura J.; Shenoy, Anitha; Unnikrishnan, Ramesh; Dixit, Subhal B.; Rhayakar, Rachana V.; Ramakrishnan, Nagarajan; Bhardwaj, Vallish K.; Mahto, Heera L.; Sagar, Sudha V.; Palaniswamy, Vijayanand; Ganesan, Deeban; Hashemian, Seyed Mohammadreza; Jamaati, Hamidreza; Heidari, Farshad; Meaney, Edel A.; Nichol, Alistair; Knapman, Karl M.; O’Croinin, Donall; Dunne, Eimhin S.; Breen, Dorothy M.; Clarkson, Kevin P.; Jaafar, Rola F.; Dwyer, Rory; Amir, Fahd; Ajetunmobi, Olaitan O.; O’Muircheartaigh, Aogan C.; Black, Colin S.; Treanor, Nuala; Collins, Daniel V.; Altaf, Wahid; Zani, Gianluca; Fusari, Maurizio; Spadaro, Savino; Volta, Carlo A.; Graziani, Romano; Brunettini, Barbara; Palmese, Salvatore; Formenti, Paolo; Umbrello, Michele; Lombardo, Andrea; Pecci, Elisabetta; Botteri, Marco; Savioli, Monica; Protti, Alessandro; Mattei, Alessia; Schiavoni, Lorenzo; Tinnirello, Andrea; Todeschini, Manuel; Giarratano, Antonino; Cortegiani, Andrea; Sher, Sara; Rossi, Anna; Antonelli, Massimo M.; Montini, Luca M.; Casalena, Paolo; Scafetti, Sergio; Panarello, Giovanna; Occhipinti, Giovanna; Patroniti, Nicolò; Pozzi, Matteo; Biscione, Roberto R.; Poli, Michela M.; Raimondi, Ferdinando; Albiero, Daniela; Crapelli, Giulia; Beck, Eduardo; Pota, Vincenzo; Schiavone, Vincenzo; Molin, Alexandre; Tarantino, Fabio; Monti, Giacomo; Frati, Elena; Mirabella, Lucia; Cinnella, Gilda; Fossali, Tommaso; Colombo, Riccardo; Terragni, Pierpaolo; Pattarino, Ilaria; Mojoli, Francesco; Braschi, Antonio; Borotto, Erika E.; Cracchiolo, Andrea N.; Palma, Daniela M.; Raponi, Francesco; Foti, Giuseppe; Vascotto, Ettore R.; Coppadoro, Andrea; Brazzi, Luca; Floris, Leda; Iotti, Giorgio A.; Venti, Aaron; Yamaguchi, Osamu; Takagi, Shunsuke; Maeyama, Hiroki N.; Watanabe, Eizo; Yamaji, Yoshihiro; Shimizu, Kazuyoshi; Shiozaki, Kyoko; Futami, Satoru; Ryosuke, Sekine; Saito, Koji; Kameyama, Yoshinobu; Ueno, Keiko; Izawa, Masayo; Okuda, Nao; Suzuki, Hiroyuki; Harasawa, Tomofumi; Nasu, Michitaka; Takada, Tadaaki; Ito, Fumihito; Nunomiya, Shin; Koyama, Kansuke; Abe, Toshikazu; Andoh, Kohkichi; Kusumoto, Kohei; Hirata, Akira; Takaba, Akihiro; Kimura, Hiroyasu; Matsumoto, Shuhei; Higashijima, Ushio; Honda, Hiroyuki; Aoki, Nobumasa; Imai, Hiroshi; Ogino, Yasuaki; Mizuguchi, Ichiko; Ichikado, Kazuya; Nitta, Kenichi; Mochizuki, Katsunori; Hashida, Tomoaki; Tanaka, Hiroyuki; Nakamura, Tomoyuki; Niimi, Daisuke; Ueda, Takeshi; Kashiwa, Yozo; Uchiyama, Akinori; Sabelnikovs, Olegs; Oss, Peteris; Haddad, Youssef; Liew, Kong Y.; Ñamendys-Silva, Silvio A.; Jarquin-Badiola, Yves D.; Sanchez-Hurtado, Luis A.; Gomez-Flores, Saira S.; Marin, Maria C.; Villagomez, Asisclo J.; Lemus, Jordana S.; Fierro, Jonathan M.; Cervantes, Mavy Ramirez; Flores Mejia, Francisco Javier; Dector, Dulce; Dector, Dulce M.; Gonzalez, Daniel R.; Estrella, Claudia R.; Sanchez-Medina, Jorge R.; Ramirez-Gutierrez, Alvaro; George, Fernando G.; Aguirre, Janet S.; Buensuseso, Juan A.; Poblano, Manuel; Dendane, Tarek; Balkhi, Hicham; Elkhayari, Mina; Samkaoui, Nacer; Ezzouine, Hanane; Benslama, Abdellatif; Amor, Mourad; Maazouzi, Wajdi; Cimic, Nedim; Beck, Oliver; Bruns, Monique M.; Schouten, Jeroen A.; Rinia, Myra; Raaijmakers, Monique; van Wezel, Hellen M.; Heines, Serge J.; Strauch, Ulrich; Buise, Marc P.; Simonis, Fabienne D.; Schultz, Marcus J.; Goodson, Jennifer C.; Browne, Troy S.; Navarra, Leanlove; Hunt, Anna; Hutchison, Robyn A.; Bailey, Mathew B.; Newby, Lynette; Mcarthur, Colin; Kalkoff, Michael; Mcleod, Alex; Casement, Jonathan; Hacking, Danielle J.; Andersen, Finn H.; Dolva, Merete S.; Laake, Jon H.; Barratt-Due, Andreas; Noremark, Kim Andre L.; Søreide, Eldar; Sjøbø, Brit Å; Guttormsen, Anne B.; Yoshido, Hector H. Leon; Aguilar, Ronald Zumaran; Oscanoa, Fredy A. Montes; Alisasis, Alain U.; Robles, Joanne B.; Pasanting-Lim, Rossini Abbie B.; Tan, Beatriz C.; Andruszkiewicz, Pawel; Jakubowska, Karina; Coxo, Cristina M.; Alvarez, António M.; Oliveira, Bruno S.; Montanha, Gustavo M.; Barros, Nelson C.; Pereira, Carlos S.; Messias, António M.; Monteiro, Jorge M.; Araujo, Ana M.; Catorze, Nuno T.; Marum, Susan M.; Bouw, Maria J.; Gomes, Rui M.; Brito, Vania A.; Castro, Silvia; Estilita, Joana M.; Barros, Filipa M.; Serra, Isabel M.; Martinho, Aurelia M.; Tomescu, Dana R.; Marcu, Alexandra; Bedreag, Ovidiu H.; Papurica, Marius; Corneci, Dan E.; Negoita, Silvius Ioan; Grigoriev, Evgeny; Gritsan, Alexey I.; Gazenkampf, Andrey A.; Almekhlafi, Ghaleb; Albarrak, Mohamad M.; Mustafa, Ghanem M.; Maghrabi, Khalid A.; Salahuddin, Nawal; Aisa, Tharwat M.; Al Jabbary, Ahmed S.; Tabhan, Edgardo; Trinidad, Olivia A.; Al Dorzi, Hasan M.; Tabhan, Edgardo E.; Bolon, Stefan; Smith, Oliver; Mancebo, Jordi; Lopez-Delgado, Juan C.; Esteve, Francisco; Rialp, Gemma; Forteza, Catalina; de Haro, Candelaria; Artigas, Antonio; Albaiceta, Guillermo M.; de Cima-Iglesias, Sara; Seoane-Quiroga, Leticia; Ruiz-Aguilar, Antonio L.; Claraco-Vega, Luis M.; Soler, Juan Alfonso; Lorente, Maria del Carmen; Hermosa, Cecilia; Gordo, Federico; Prieto-González, Miryam; López-Messa, Juan B.; Perez, Manuel P.; Perez, Cesar P.; Allue, Raquel Montoiro; Roche-Campo, Ferran; Ibañez-Santacruz, Marcos; Temprano, Susana; Pintado, Maria C.; de Pablo, Raul; Gómez, Pilar Ricart Aroa; Rodriguez Ruiz, Silvia; Iglesias Moles, Silvia; Jurado, Mª Teresa; Arizmendi, Alfons; Piacentini, Enrique A.; Franco, Nieves; Honrubia, Teresa; Perez Cheng, Meisy; Perez Losada, Elena; Blanco, Javier; Yuste, Luis J.; Carbayo-Gorriz, Cecilia; Cazorla-Barranquero, Francisca G.; Alonso, Javier G.; Alda, Rosa S.; Algaba, Ángela; Navarro, Gonzalo; Cereijo, Enrique; Diaz-Rodriguez, Esther; Pastor Marcos, Diego; Alvarez Montero, Laura; Herrera Para, Luis; Jimenez Sanchez, Roberto; Blasco Navalpotro, Miguel Angel; Diaz Abad, Ricardo; Castro, Alejandro G.; Jose D Artiga, Maria; Ceniceros-Barros, Alexandra; Montiel González, Raquel; Parrilla Toribio, Dácil; Penuelas, Oscar; Roser, Tomas P.; Olga, Moreno F.; Gallego Curto, Elena; Manzano Sánchez, Rocío; Imma, Vallverdu P.; Elisabet, Garcia M.; Claverias, Laura; Magret, Monica; Pellicer, Ana M.; Rodriguez, Lucia L.; Sánchez-Ballesteros, Jesús; González-Salamanca, Ángela; Jimenez, Antonio G.; Huerta, Francisco P.; Sotillo Diaz, Juan Carlos J.; Bermejo Lopez, Esther; Llinares Moya, David D.; Tallet Alfonso, Alec A.; Eugenio Luis, Palazon Sanchez; Sanchez Cesar, Palazon; Rafael, Sánchez I.; Virgilio, Corcoles G.; Recio, Noelia N.; Adamsson, Richard O.; Rylander, Christian C.; Holzgraefe, Bernhard; Broman, Lars M.; Wessbergh, Joanna; Persson, Linnea; Schiöler, Fredrik; Kedelv, Hans; Oscarsson Tibblin, Anna; Appelberg, Henrik; Hedlund, Lars; Helleberg, Johan; Eriksson, Karin E.; Glietsch, Rita; Larsson, Niklas; Nygren, Ingela; Nunes, Silvia L.; Morin, Anna-Karin; Kander, Thomas; Adolfsson, Anne; Zender, Hervé O.; Leemann-Refondini, Corinne; Elatrous, Souheil; Bouchoucha, Slaheddine; Chouchene, Imed; Ouanes, Islem; Souissi, Asma Ben; Kamoun, Salma; Demirkiran, Oktay; Aker, Mustafa; Erbabacan, Emre; Ceylan, Ilkay; Girgin, Nermin Kelebek; Ozcelik, Menekse; Ünal, Necmettin; Meco, Basak Ceyda; Akyol, Onat O.; Derman, Suleyman S.; Kennedy, Barry; Parhar, Ken; Srinivasa, Latha; McAuley, Danny; Hopkins, Phil; Mellis, Clare; Kakar, Vivek; Hadfield, Dan; Vercueil, Andre; Bhowmick, Kaushik; Humphreys, Sally K.; Ferguson, Andrew; Mckee, Raymond; Raj, Ashok S.; Fawkes, Danielle A.; Watt, Philip; Twohey, Linda; Jha, Rajeev R.; Thomas, Matthew; Morton, Alex; Kadaba, Varsha; Smith, Mark J.; Hormis, Anil P.; Kannan, Santhana G.; Namih, Miriam; Reschreiter, Henrik; Camsooksai, Julie; Kumar, Alek; Rugonfalvi, Szabolcs; Nutt, Christopher; Oneill, Orla; Seasman, Colette; Dempsey, Ged; Scott, Christopher J.; Ellis, Helen E.; McKechnie, Stuart; Hutton, Paula J.; Di Tomasso, Nora N.; Vitale, Michela N.; Griffin, Ruth O.; Dean, Michael N.; Cranshaw, Julius H.; Willett, Emma L.; Ioannou, Nicholas; Gillis, Sarah; Csabi, Peter; Macfadyen, Rosaleen; Dawson, Heidi; Preez, Pieter D.; Williams, Alexandra J.; Boyd, Owen; Ortiz-Ruiz de Gordoa, Laura; Bramall, Jon; Symmonds, Sophie; Chau, Simon K.; Wenham, Tim; Szakmany, Tamas; Toth-Tarsoly, Piroska; Mccalman, Katie H.; Alexander, Peter; Stephenson, Lorraine; Collyer, Thomas; Chapman, Rhiannon; Cooper, Raphael; Allan, Russell M.; Sim, Malcolm; Wrathall, David W.; Irvine, Donald A.; Zantua, Kim S.; Adams, John C.; Burtenshaw, Andrew J.; Sellors, Gareth P.; Welters, Ingeborg D.; Williams, Karen E.; Hessell, Robert J.; Oldroyd, Matthew G.; Battle, Ceri E.; Pillai, Suresh; Kajtor, Istvan; Sivashanmugavel, Mageswaran; Okane, Sinead C.; Donnelly, Adrian; Frigyik, Aniko D.; Careless, Jon P.; May, Martin M.; Stewart, Richard; Trinder, T. John; Hagan, Samantha J.; Wise, Matt P.; Cole, Jade M.; MacFie, Caroline C.; Dowling, Anna T.; Nin, Nicolás; Nuñez, Edgardo; Pittini, Gustavo; Rodriguez, Ruben; Imperio, María C.; Santos, Cristina; França, Ana G.; Ebeid, Alejandro; Deicas, Alberto; Serra, Carolina; Uppalapati, Aditya; Kamel, Ghassan; Banner-Goodspeed, Valerie M.; Beitler, Jeremy R.; Reddy Mukkera, Satyanarayana; Kulkarni, Shreedhar; Lee, Jarone; Mesar, Tomaz; Shinn Iii, John O.; Gomaa, Dina; Tainter, Christopher; Yeatts, Dale J.; Warren, Jessica; Lanspa, Michael J.; Miller, Russel R.; Grissom, Colin K.; Brown, Samuel M.; Gosselin, Ryan J.; Kitch, Barrett T.; Cohen, Jason E.; Beegle, Scott H.; Gueret, Renaud M.; Tulaimat, Aiman; Choudry, Shazia; Stigler, William; Batra, Hitesh; Huff, Nidhi G.; Lamb, Keith D.; Oetting, Trevor W.; Mohr, Nicholas M.; Judy, Claine; Saito, Shigeki; Kheir, Fayez M.; Kheir, Fayez; Schlichting, Adam B.; Delsing, Angela; Crouch, Daniel R.; Elmasri, Mary; Ismail, Dina; Dreyer, Kyle R.; Blakeman, Thomas C.; Baron, Rebecca M.; Quintana Grijalba, Carolina; Hou, Peter C.; Seethala, Raghu; Aisiku, Imo; Henderson, Galen; Frendl, Gyorgy; Hou, Sen-Kuang; Owens, Robert L.; Schomer, Ashley; Jovanovic, Bojan; Surbatovic, Maja; Veljovic, Milic

    2017-01-01

    Rationale: Noninvasive ventilation (NIV) is increasingly used in patients with acute respiratory distress syndrome (ARDS). The evidence supporting NIV use in patients with ARDS remains relatively sparse. Objectives: To determine whether, during NIV, the categorization of ARDS severity based on the

  19. Myxedema coma in a patient with Down's syndrome.

    Science.gov (United States)

    Bansal, Darpan; Nanda, Ashish; Gupta, Ekta; Croker, Mary; Williams, Misty L; Bacchus, Amy; Simmons, Debra; Erbland, Marcia

    2006-11-01

    hyroid dysfunction is common in Down's syndrome, most common being hypothyroidism. Longstanding, untreated hypothyroidism can lead to myxedema coma. Here we report a patient with Down's syndrome who presented with myxedema coma. The three essential elements for the diagnosis of myxedema coma include altered mental status, defective thermoregulation and a precipitating event or illness; all of these were present in our patient. Also, very high TSH, low T3 and T4, and the rapid response to the treatment with levothyroxine confirmed the diagnosis. Patients with Down's syndrome should have regular screening for thyroid dysfunction.

  20. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    Science.gov (United States)

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. SICK SINUS SYNDROME IN PATIENTS WITH ACUTE CEREBROVASCULAR ACCIDENTS

    Directory of Open Access Journals (Sweden)

    E. K. Kazakova

    2015-01-01

    Full Text Available The article presents a clinical case of 2 patients with heart arrhythmias of the sick sinus syndrome type, who were implanted electriccardiac pacemakers in the acute period of cerebrovascular accidents. There were no cardiac complaints in the clinical manifestation, however, a comprehensive assessment confirmed the diagnosis of sick sinus syndrome.

  2. Progression of salivary gland dysfunction in patients with Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, J.; Kalk, W. W. I.; Bootsma, H.; Spijkervet, F. K. L.; Kallenberg, C. G. M.; Vissink, A.

    Background: Salivary gland dysfunction is one of the key manifestations of Sjogren's syndrome. Objectives: (1) To assess prospectively loss of function of individual salivary glands in patients with primary and secondary Sjogren's syndrome in relation to disease duration and use of immunomodulatory

  3. Metabolic Syndrome among Type-2 Diabetic Patients in Benghazi ...

    African Journals Online (AJOL)

    Background: Metabolic syndrome is a cluster of three out of five conditions that are due to hyperinsulinemia: abdominal obesity, atherogenic dyslipidemia (high triglycerides and/or low HDL), elevated blood pressure, and elevated plasma glucose. The syndrome is highly prevalent in patients with type-2 diabetes mellitus ...

  4. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

    Mega, Jessica L; Braunwald, Eugene; Wiviott, Stephen D

    2012-01-01

    Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome....

  5. Electrodiagnostic findings in a patient with Waardenburg syndrome.

    Science.gov (United States)

    Ahmed, Aiesha; Simmons, Zachary

    2009-09-01

    Waardenburg syndrome is associated with a variety of clinical features, which may include polyneuropathy. We describe a patient with Waardenburg syndrome type 2 and provide detailed electrodiagnostic findings, thus complementing the biopsy data and brief descriptions of nerve conduction studies found in the literature.

  6. Celiac disease in patients with Williams-Beuren syndrome.

    Science.gov (United States)

    Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

    2015-01-01

    Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

  7. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-01

    Cushing’s syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls (n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16), and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis. PMID:28146078

  8. Metabolomic Biomarkers in Urine of Cushing's Syndrome Patients.

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-29

    Cushing's syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls ( n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS ( n = 16), and patients with non-functioning AIs with possible subclinical Cushing's syndrome ( n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis.

  9. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    Science.gov (United States)

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  10. Mortality in patients with respiratory distress syndrome.

    Science.gov (United States)

    Lopez Saubidet, I; Maskin, L P; Rodríguez, P O; Bonelli, I; Setten, M; Valentini, R

    2016-01-01

    Mortality in Acute Respiratory Distress Syndrome (ARDS) is decreasing, although its prognosis after hospital discharge and the prognostic accuracy of Berlin's new ARDS stratification are uncertain. We did a restrospective analysis of hospital and 6 month mortality of patients with ARDS admitted to the Intensive Care Unit of a Univeristy Hospital in Buenos Aires, between January 2008 and June 2011. ARDS was defined by PaO2/FiO2 lower than 200 mmHg under ventilation with at least 10 cm H2O of PEEP and a FiO2 higher or equal than 0.5. and the presence of bilateral infiltrates in chest radiography, in the absence of cardiogenic acute pulmonary edema, during the first 72 hs of mechanical ventilation. Mortality associated risk factors, the use of rescue therapies and Berlin's stratification for moderate and severe ARDS patients were considered. Ninety eight patients were included; mean age was 59±19 years old, 42,9% had mayor co-morbidities; APACHE II at admission was 22±7; SOFA at day 1 was 8±3. Prone position ventilation was applied in 20,4% and rescue measures in 12,2% (12 patients with nitric oxide and 1 with extracorporeal membrane oxygenation). Hospital and 6 months mortality were 37.7 and 43.8% respectively. After logistic regression analysis, only age, the presence of septic shock at admission, Ppl >30 cmH2O, and major co-morbidities were independently associated with hospital outcome. There was no difference between moderate and severe groups (41,2 and 36,8% respectively; p=0,25). In this cohort, including patients with severe hypoxemia and high percentage of mayor co-morbidities, ARDS associated mortality was lower than some previous studies. There was no increase in mortality after hospital discharge. There was no difference in mortality between moderate and severe groups according to Berlin's definition. Copyright © 2015 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

  11. Cotard syndrome in neurological and psychiatric patients.

    Science.gov (United States)

    Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F

    2010-01-01

    The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.

  12. Determination of fibromyalgia syndrome after whiplash injuries: methodologic issues.

    Science.gov (United States)

    Robinson, James P; Theodore, Brian R; Wilson, Hilary D; Waldo, Peter G; Turk, Dennis C

    2011-06-01

    Problems in diagnosing fibromyalgia syndrome (FM) among motor vehicle collision (MVC) patients with whiplash (WL) include the following: the predominance of tender points (TPs) in the neck/shoulder girdle region; the 3-month duration of widespread pain criterion; and, the stability of diagnosis. The present study examined the prevalence of FM in a cohort (N = 326) patients with persistent neck pain 3 months after WL injury who were enrolled in a treatment program. Physical examinations were performed at baseline and at the end of treatment. Results indicated that WL patients had a greater proportion of neck/shoulder girdle TPs, relative to distal TPs. Compared with a matched cohort of treatment-seeking FM patients, WL patients indicated less distal TPs (mean = 7.3 TPs vs. mean = 5.6 TPs, P whiplash patients because of persistent localized tenderness after motor vehicle collisions. Copyright © 2011 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

  13. Altered gastric emptying in patients with irritable bowel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M. [Department of Medicine, School of Medicine, University of Granada (Spain); Herrerias-Gutierrez, J.M. [Division of Gastroenterology, University Hospital ``Virgen de la Macarena``, Sevilla (Spain); Esteban-Carretero, J.M. [Central Service of Investigation in Health Sciences, University of Cadiz, Cadiz (Spain)

    1999-04-29

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.) With 1 fig., 3 tabs., 48 refs.

  14. Altered gastric emptying in patients with irritable bowel syndrome

    International Nuclear Information System (INIS)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M.; Herrerias-Gutierrez, J.M.; Esteban-Carretero, J.M.

    1999-01-01

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.)

  15. Overcoming barriers to work participation for patients with postpoliomyelitis syndrome

    NARCIS (Netherlands)

    ten Katen, Kim; Beelen, Anita; Nollet, Frans; Frings-Dresen, Monique H. W.; Sluiter, Judith K.

    2011-01-01

    Purpose. This study aimed to explore the perceived work ability of patients with postpoliomyelitis syndrome (PPS), to identify barriers and factors that are impeding or conducive, respectively, to work participation, and to identify possible interventions. Methods. Qualitative cross-sectional

  16. Meier-Gorlin syndrome: Report of an additional patient with ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-05-16

    May 16, 2014 ... which functions during replication can cause Seckel syndrome, a clinically related ... brain, and growth hormone provocation test were normal. Skeletal survey ... atrial defect with left–right shunt [17]. Also our patient suf-.

  17. Severity of dry eye syndrome is related to anti-dsDNA autoantibody in systemic lupus erythematosus patients without secondary Sjogren syndrome: A cross-sectional analysis.

    Science.gov (United States)

    Chen, Alexander; Chen, Hung-Ta; Hwang, Yih-Hsiou; Chen, Yi-Tsun; Hsiao, Ching-Hsi; Chen, Hung-Chi

    2016-07-01

    There are as many as one-third of the systemic lupus erythematosus (SLE) patients who suffer from dry eye syndrome. To this date, dry eye syndrome in SLE patients is believed to be caused by secondary Sjogren syndrome (sSS). However, there is increasing evidence for possible independency of dry eye syndrome and sSS in patients suffering from autoimmune diseases. The purpose of this retrospective observational case series was to identify SLE patients without sSS who had dry eye syndrome, examine the correlation of different autoantibodies and dry eye severity, and determine the cause of dry eye in these patients.We included 49 consecutive SLE patients with dry eye who visited our dry eye clinic. In order to rule out sSS, these patients were all negative for anti-Sjogren's-syndrome-related antigen A and B (anti-SSA/SSB) and had no oral symptoms. Each patient's lupus activity was determined by serological tests including antidouble-stranded DNA antibody (anti-dsDNA), complement levels (C3, C4), erythrocyte sedimentation rate (ESR), and antinuclear antibody (ANA). Severity of dry eye syndrome was determined by corneal sensation (KSen), superficial punctuate keratopathy (SPK), Schirmer-I test (Schirmer), and tear film break-up time (TBUT). The autoantibodies and the dry eye parameters in each group were tested using the χ test or the Mann-Whitney U test for normally distributed or skewed data, respectively.The anti-dsDNA showed significant correlations with KSen (P dry eye parameters were observed between C4, ESR, and ANA.The major finding of this study was that the severity of dry eye syndrome in SLE patients without sSS was strongly correlated with anti-dsDNA and C3 but not with C4, ESR, and ANA.

  18. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

    Science.gov (United States)

    Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

    2015-01-20

    To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  19. Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.

    Science.gov (United States)

    Jeż, Wacław; Tobiasz-Adamczyk, Beata; Brzyski, Piotr; Majkowicz, Mikołaj; Pankiewicz, Piotr; Irzyniec, Tomasz J

    2018-02-01

    Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.

  20. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  1. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  2. Digital subtraction angiography in patients with Marfan's syndrome

    International Nuclear Information System (INIS)

    Rauber, K.; Riemann, H.

    1987-01-01

    Marfan's syndrome is a rare inborn error of metabolism. Marfan patients are prone to aneurysms of the ascending aorta and run a high risk of rupture of the aortic arch. The diameter of the aneurysm is the most important predictor of the risk and therefore the leading point for surgical interventions. IV and IA-DSA according to our experiences are simple and effective methods in pre- and postoperative evaluation of patients with the syndrome. (orig.) [de

  3. Digital subtraction angiography in patients with Marfan's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rauber, K; Riemann, H

    1987-06-01

    Marfan's syndrome is a rare inborn error of metabolism. Marfan patients are prone to aneurysms of the ascending aorta and run a high risk of rupture of the aortic arch. The diameter of the aneurysm is the most important predictor of the risk and therefore the leading point for surgical interventions. IV and IA-DSA according to our experiences are simple and effective methods in pre- and postoperative evaluation of patients with the syndrome.

  4. Brown-McLean Syndrome in a Pediatric Patient

    Science.gov (United States)

    Tourkmani, Abdo Karim; Martinez, Jaime D.; Berrones, David; Juárez-Domínguez, Brenda Y.; Beltrán, Francisco; Galor, Anat

    2015-01-01

    The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema. PMID:26034485

  5. Prevention of infectious diseases in patients with Good syndrome.

    Science.gov (United States)

    Multani, Ashrit; Gomez, Carlos A; Montoya, José G

    2018-08-01

    Good syndrome is a profoundly immunocompromising condition with heterogeneous immune deficits characterized by the presence of thymoma, low-to-absent B-lymphocyte counts, hypogammaglobulinemia, and impaired cell-mediated immunity. Opportunistic infectious diseases associated with Good syndrome represent a diagnostic and therapeutic challenge, given their protean clinical manifestations. Although these infectious complications have been reviewed in prior publications, recommendations regarding their prevention have been lacking. Good syndrome usually occurs in adult patients between the ages of 40 and 70 years. Immunologically, it is characterized by low or absent peripheral blood B lymphocytes, hypogammaglobulinemia, and variable defects in cell-mediated immunity including low CD4 T counts, inverted CD4:CD8 T-lymphocyte ratio, and reduced T-lymphocyte mitogen proliferative responses. Patients with Good syndrome are susceptible to a variety of infectious diseases, of which the most common are recurrent bacterial sinopulmonary infections, mucocutaneous candidiasis, and CMV tissue-invasive disease. Preventive guidelines including targeted antimicrobial prophylaxis and vaccination strategies can mitigate infectious complications in patients with Good syndrome. Immunological deficits and infectious complications in Good syndrome have been described for over 60 years. Further research is needed to elucidate its exact pathogenesis and define the mechanistic relationship between thymoma and hypogammaglobulinemia. However, tailored prophylactic strategies can be recommended for patients with Good syndrome.

  6. Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis

    Science.gov (United States)

    Fukawa, Toshihiko; Hirakawa, Takashi; Satake, Toshihiko; Maegawa, Jiro

    2017-01-01

    Background: The purpose of this study was to confirm the utility of a corrected cephalometric analysis to facilitate the planning of distraction osteogenesis with Le Fort III osteotomy for syndromic craniosynostosis. Methods: This prospective study involved 4 male and 2 female patients (mean patient age, 8 years 9 months; age range, 4 years 6 months to 13 years 2 months) with Crouzon syndrome who were treated with Le Fort III maxillary distraction using our previously described system of analysis of a corrected cephalogram and who underwent clinical follow-up. Lateral cephalograms were obtained immediately after device removal. Results: Distraction of orbitale moved the vector downward to the adult profile, but there was slightly less elongation than the adult profile for the distraction distance. The desired and real mean angles after distraction of point A were 29.2 ± 7.9° and 6.1 ± 8.5°, respectively, and the desired and the real mean distances after distraction of point A were 30.6 ± 12.7 mm and 29.4 ± 4.1 mm, respectively. Conclusions: Using the corrected cephalometric analysis, the distance and vector of distraction osteogenesis with Le Fort III osteotomy could be determined in patients with syndromic craniosynostosis. The distraction system brought the patients' facial bones to the planned position using controlling devices. PMID:29062650

  7. Relation between Hormonal Disorders and Components of Metabolic Syndrome in Patients with Primary Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Т.Yu. Yuzvenko

    2016-09-01

    Full Text Available During the last decade plenty of the researches dedicated to the problem of hypothyroidism were published, that radically changed views to the value of thyroid pathology on the whole. Neurohumoral changes are considered as a nosotropic factor of hypothyroidism development in persons with metabolic syndrome (MS. Aim of the research is to study the features of hormonal disorders and their correlation with the components of metabolic syndrome in patients with primary hypothyroidism. Materials and methods. The study involved 80 patients with primary hypothyroidism: 61 had metabolic syndrome and 19 did not have metabolic syndrome. Results. Statistically significant increased levels of leptin, insulin, cortisol, C-peptide were revealed in patients with hypothyroidism and metabolic syndrome while the most marked changes were found in patients with multiple metabolic abnormalities. Conclusions. The interrelations between hyperleptinemia and fasting glucose, glycated hemoglobin, insulin levels, thyroid-stimulating hormone, index HOMA were determined indicating the modulating role of chronic hyperglycemia, hormonal disorders and insulin resistance in the expression and realization of the biological action of leptin in patients with hypothyroidism and metabolic syndrome.

  8. Epidemiological and clinical characteristics of Reiter's syndrome in Jordanian patients

    International Nuclear Information System (INIS)

    Al-Mrayat, Z.; Abdallat, S.; Marabha, T.

    2004-01-01

    Objective: To study the epidemiological and clinical features of Reiter's syndrome in patients who visited the rheumatology clinic in King Hussein Medical Centre (KHMC), Jordan. Methods: A prospective study, including 43 patients with the diagnosis of Reiter's syndrome was done. Patients were assessed by taking complete history, physical examination and appropriate investigations including urinalysis and culture, stool examination and culture, synovial fluid analysis, complement fixation test for Chlamydia trachomatis, complete blood count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies. HLA-B27 and radiological study. Results: All patients in this study were white men, with mean age of 26.3 years. HLA-B27 was positive in 37 patients (86%). Most cases were post venereal (32 patients, 74%) while the rest were dysenteric. The clinical manifestations were arthritis in all patients (100%), urethritis in 21 patients (48%), ocular involvement in 20 patients (46%), diarrhea in 12 patients (28%), painless oral ulcers in 11 patients (26%), skin lesions in 5 patients (12%) and constitutional symptoms in 7 patients (16%). Arthritis was mostly oligoarticular (25 patients, 58%) with asymmetrical pattern in 34 patients (78%). Large joints of lower extremity were most involved (29 patients, 68%). Rheumatoid factor and antinuclear antibodies were negative in all patients. Relapses occurred in 7 patients (16%) after a mean period of 6.2 months. Conclusion: It is concluded that the epidemiological and clinical features of Reiter's syndrome in Jordan are not different from those in the literature. (author)

  9. Factor V G1691A (Leiden is a major etiological factor in Egyptian Budd-Chiari syndrome patients

    Directory of Open Access Journals (Sweden)

    Tawhida Y. Abdel Ghaffar

    2011-12-01

    Full Text Available Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins. The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults. Genotyping of Factor V G1691A (Leiden, prothrombin G20210A (PT, and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.Results: Factor V Leiden was observed in 29 patients (61.7%. It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5% patients, antiphospholipid syndrome in 5 (10.6%, and Behcet’s disease in 3 (6.4%. Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

  10. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Giaxa Prosdócimo

    2015-03-01

    Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  11. Abdominal Compartment Syndrome in Surgical Patients

    African Journals Online (AJOL)

    abdominal hypertension and abdominal compartment syndrome, affect ... timely surgical intervention is crucial. Key words: .... On the second postoperative day, he was noted to be restless ... Although surgery is very effective in managing ACS.

  12. Toxicity of oral radiotherapy in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Cooper, J.S.; Fried, P.R.

    1987-01-01

    Although radiotherapy is a standard form of management of head and neck tumors, treatment of the oral cavity in patients who have the acquired immunodeficiency syndrome has produced unacceptable toxicity. Five such patients are described as a warning of enhanced toxicity of oral radiotherapy in this patient population

  13. Dental management of patient with Williams Syndrome - A case report.

    Science.gov (United States)

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  14. Prevalence of non alcoholic fatty liver disease in patients with metabolic syndrome

    International Nuclear Information System (INIS)

    Iftikhar, R.; Kamran, S.M.

    2015-01-01

    To determine frequency of Non Alcoholic fatty liver disease in patients with Metabolic Syndrome (MetS). Study Design: Cross sectional study. Place and Duration of Study: Department of medicine, CMH Okara, Jan 2013 to July 2013. Patients and Methods: We included 491 adult males, diagnosed with metabolic syndrome (MetS), presenting in outpatient department for routine review. MetS was diagnosed as per the International Diabetes Federation (IDF) proposed criteria of 2004. Detailed history and examination of each individual was done and data entered in pre designed performa. Brightness and posterior attenuation on ultrasound abdomen were considered indices for fatty liver disease in presence of elevated ALT, negative hepatitis serology and absence of alcohol intake. All the data was analyzed using SPSS version 16. p value of less than 0.05 was considered statistically significant. Results: Out of 491 participants with MetS, 222 (45.2%) had fatty liver disease. Mean BMI in patients with metabolic syndrome was 26.1 (± .89) and mean BMI in fatty liver patients was 27.3 (± 0.67). Out of total 5 components of Mets, patients with fatty liver disease had 3.24 (± 0.25) components, as compared to 2.1 (± 0.34) in whole of study group. Conclusion: A large number of patients with metabolic syndrome have fatty liver disease. Fatty liver disease is more frequent in patients who are overweight and those having multiple risk factors of metabolic syndrome. (author)

  15. Demographic Characteristics of Our Patients with Carpal Tunnel Syndrome

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    Ebru Umay

    2011-09-01

    Full Text Available Aim: Carpal tunnel (CTS is the most common trap neuropathy but, still fully understood the cause of this and effective factors. In this study was aimed to the evaluation demographic features of the cases with CTS admitted to our electroneuromyography (ENMG laboratory. Material and Methods: In the study, 119 patients with CTS to evaluate our ENMG laboratory were received. All patients age, sex, dominant and affected hand, duration of education, marital status, height, weight, additional diseases, occupational, hand and wrist repetitive motion made, use of computer and smoking status was assessed. Patients’ body mass index (BMI was calculated. Results: 102 cases (85.7% females, mean age was 46.32 years ± 12: 18. While in 115 (96.6% cases using the right hand is dominant, in 85 cases (76.6% with bilateral involvement were at hand. While the rate of patient who between five to eight year duration of education had was 47.1%, 84% patients were married. Also, BMI were determined as 29.33± 3.01. According to the state in 22 patients with additional diseases, diabetes mellitus in 22, hypothyroidism in 4, also 1 patient had arthritis. The majority of our patients (70.6% housewives formed. The 67.2% rate of repetetive activities as making crafts, the computer usage at a rate of 11.8% had history. The rate of smoking was 19.3%.  Conclusions:  As a result, CTS, especially in middle-aged housewives and obese is a common syndrome. Despite many reasons to be reported in the etiology of idiopathic 85%. At a rate of 25.4% of women in our society is considered paid work, especially in terms of determining the etiology of the more detailed studies are needed to ousewives.

  16. Patient with confirmed LEOPARD syndrome developing multiple melanoma.

    Science.gov (United States)

    Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

    2018-01-01

    LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

  17. Free carnitine and acylcarnitines in obese patients with polycystic ovary syndrome and effects of pioglitazone treatment

    DEFF Research Database (Denmark)

    Vigerust, Natalya Filipchuk; Bohov, Pavol; Bjørndal, Bodil

    2012-01-01

    To determine fasting and insulin-stimulated levels of carnitine precursors, total and free carnitine, and acylcarnitines, and evaluate the impact of pioglitazone treatment in obese patients with polycystic ovary syndrome (PCOS).......To determine fasting and insulin-stimulated levels of carnitine precursors, total and free carnitine, and acylcarnitines, and evaluate the impact of pioglitazone treatment in obese patients with polycystic ovary syndrome (PCOS)....

  18. [Features of the periodontal pathology at patients with metabolic syndrome].

    Science.gov (United States)

    Ermolaeva, L A; Shishkin, A N; Sheveleva, N A; Penkovoi, E A; Sheveleva, M A; Sokolovich, N A; Khabarova, O V; Mihailova, E S

    2016-01-01

    The purpose of this article is to familiarize readers on the relationship between metabolic syndrome and periodontitis, as well as common pathogenetic processes underlying these diseases. The data of modern researches, devoted to the correlation of lesions of periodontal and systemic diseases associated with metabolic syndrome. In the article analyzed also the data of the original study of the interaction of periodontitis and metabolic syndrome, which also used special methods of examination like Doppler ultrasound microcirculatory vasculature of the periodontal tissues and ultrasound densitometry. The possible methods of diagnostics of a condition of periodontal tissues in patients with metabolic syndrome are considered. Conclusions about the relationship of each component of metabolic syndrome with periodontitis are made.

  19. Cytokine expression in patients with bladder pain syndrome/interstitial cystitis ESSIC type 3C.

    Science.gov (United States)

    Logadottir, Yr; Delbro, Dick; Fall, Magnus; Gjertsson, Inger; Jirholt, Pernilla; Lindholm, Catharina; Peeker, Ralph

    2014-11-01

    Bladder wall nitric oxide production in patients with bladder pain syndrome type 3C is increased compared to undetectable nitric oxide in patients with nonHunner bladder pain syndrome and healthy controls. However, the underlying mechanism/s of the increased nitric oxide production is largely unknown. We compared mRNA expression of a select group of cytokines in patients with bladder pain syndrome/interstitial cystitis type 3C and in pain-free controls. Cold cup biopsies from 7 patients with bladder pain syndrome type 3C and 6 healthy subjects were analyzed. mRNA expression of IL-4, 6, 10 and 17A, iNOS, TNF-α, TGF-β and IFN-γ was estimated by real-time polymerase chain reaction. IL-17 protein expression was determined by immunohistochemistry. Mast cells were labeled with tryptase to evaluate cell appearance and count. IL-6, 10 and 17A, and iNOS mRNA levels as well as the number of mast cells infiltrating the bladder mucosa were significantly increased in patients with bladder pain syndrome type 3C compared to healthy controls. TNF-α, TGF-β and IFN-γ mRNA levels were similar in patients and controls. IL-17A expression at the protein level was up-regulated and localized to inflammatory cells and urothelium in patients with bladder pain syndrome type 3C. Patients with bladder pain syndrome/interstitial cystitis had increased mRNA levels of IL-17A, 10 and 6, and iNOS. IL-17A might be important in the inflammatory process. To our knowledge the increase in IL-17A is a novel finding that may have new treatment implications. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  20. Increased prevalence of metabolic syndrome in patients with acne inversa.

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    Robert Sabat

    Full Text Available BACKGROUND: Acne inversa (AI; also designated as Hidradenitis suppurativa is a common chronic inflammatory skin disease, localized in the axillary, inguinal and perianal skin areas that causes painful, fistulating sinuses with malodorous purulence and scars. Several chronic inflammatory diseases are associated with the metabolic syndrome and its consequences including arteriosclerosis, coronary heart disease, myocardial infraction, and stroke. So far, the association of AI with systemic metabolic alterations is largely unexplored. METHODS AND FINDINGS: A hospital-based case-control study in 80 AI patients and 100 age- and sex-matched control participants was carried out. The prevalence of central obesity (odds ratio 5.88, hypertriglyceridemia (odds ratio 2.24, hypo-HDL-cholesterolemia (odds ratio 4.56, and hyperglycemia (odds ratio 4.09 in AI patients was significantly higher than in controls. Furthermore, the metabolic syndrome, previously defined as the presence of at least three of the five alterations listed above, was more common in those patients compared to controls (40.0% versus 13.0%; odds ratio 4.46, 95% confidence interval 2.02 to 9.96; P<0.001. AI patients with metabolic syndrome also had more pronounced metabolic alterations than controls with metabolic syndrome. Interestingly, there was no correlation between the severity or duration of the disease and the levels of respective parameters or the number of criteria defining the metabolic syndrome. Rather, the metabolic syndrome was observed in a disproportionately high percentage of young AI patients. CONCLUSIONS: This study shows for the first time that AI patients have a high prevalence of the metabolic syndrome and all of its criteria. It further suggests that the inflammation present in AI patients does not have a major impact on the development of metabolic alterations. Instead, evidence is given for a role of metabolic alterations in the development of AI. We recommend

  1. Correlation between Ultrasonographic Findings and The Response to Corticosteroid Injection in Pes Anserinus Tendinobursitis Syndrome in Knee Osteoarthritis Patients

    OpenAIRE

    Yoon, Ho Sung; Kim, Sung Eun; Suh, Young Ran; Seo, Young-Il; Kim, Hyun Ah

    2005-01-01

    The objectives of this study were to assess the ultrasonographic (US) findings in patients with knee osteoarthritis (OA) with pes anserinus tendinitis or bursitis (PATB) syndrome and to determine the correlation between the US findings and the response to local corticosteroid injection. We prospectively studied 26 patients with knee OA with clinically diagnosed PATB syndrome. A linear array 7 MHz transducer was used for US examination of the knee. Seventeen patients were injected locally with...

  2. Disease pattern in Danish patients with Peutz-Jeghers syndrome

    DEFF Research Database (Denmark)

    Jelsig, A M; Qvist, N; Sunde, L

    2016-01-01

    PURPOSE: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps...... in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11. METHODS: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from...... of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients. CONCLUSION...

  3. Rare successful pregnancy in a patient with Swyer Syndrome

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    Jyoti Taneja

    2016-10-01

    Full Text Available Objective: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design: Case report. Setting: Herts & Essex Fertility Centre, Cheshunt, UK. Patient(s: A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Intervention(s: Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICSI using donor eggs, Embryo Transfer, and Caesarean delivery. Main Outcome Measure(s: Successful pregnancy and live birth. Result(s: Successful treatment with donor eggs, pregnancy, and delivery. Conclusion(s: A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery. Keywords: Swyer syndrome, XY female, Gonadal dysgenesis, Primary amenorrhoea and HRT, Pregnancy in Swyer syndrome

  4. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    International Nuclear Information System (INIS)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami; Katoh, Tsutomu

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.)

  5. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami [Kansai Medical Univ., Osaka (Japan). Dept. of Otolaryngology; Katoh, Tsutomu [Kansai Medical Univ., Osaka (Japan). Dept. of Radiology

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.).

  6. [Pulmonary reperfusion syndrome after pulmonary stent implants in a patient with vascular tortuosity syndrome].

    Science.gov (United States)

    Berenguer Potenciano, M; Piris Borregas, S; Mendoza Soto, A; Velasco Bayon, J M; Caro Barri, A

    2015-01-01

    Vascular tortuosity syndrome is a rare genetic disorder that causes tortuosity and stenosis of the pulmonary, systemic and / or coronary circulations. As a result of treatment of pulmonary stenosis, symptoms of pulmonary edema, known as lung reperfusion syndrome, may occur. The case is presented of an adolescent patient with vascular tortuosity syndrome who presented with a pulmonary reperfusion syndrome after multiple stent implants in the left pulmonary artery. After the procedure, the patient immediately developed an acute pulmonary edema with severe clinical deterioration, which required assistance with extracorporeal membrane oxygenation for recovery. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  7. [Anemic syndrome frequency in complicated obstetrical patients].

    Science.gov (United States)

    Martínez, Maria Guadalupe Veloz; Erasto, Luis Cruz; Maxines, Claudia García; Rodríguez, María Antonia Basavilvazo; Valencia, Marcelino Hernández

    2008-09-01

    The prevalence of anemia varies from country to country and there is not a trustworthy record. To determine the frequency of anemia in obstetric patients and the association among healthy pregnancy and aggregate complications. Was carried out as transversal, observational and comparative study. Obstetrical patients entered and responded in the period of a year, were formed a group with normal pregnancy and another with complicated pregnancy, with a total sample of 194 patients. In the statistical analysis was employed Student t test for independent groups, with value if p anemia was found in 22.4%. Hematological stage from group with normal pregnancy was mild anemia in 16.9% and anemia moderated in 4.1% of the cases. The anemia degrees in the group with associated illness and pregnancy were mild anemia in 19.2% and moderated anemia in 4.2%. Not any case was found with severe anemia. The statistical analysis showed difference significant among both groups p preeclampsia severe (22.6%), type 2 diabetes (13.9%), gestational diabetes (12.2%) and the remainder with other complications that include to the hypertiroidism, rheumatoid arthritis, lupus, asthma and vein deep thrombosis. Frequency of anemia in this study was greater upon informing in the international literature. The obstetrical complication more frequently relates to diverse anemia degrees were the hypertensive stage during pregnancy. The anemia is presented with greater frequency in pregnancy patients with others associated illness.

  8. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2013-01-01

    Full Text Available Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

  9. Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

    Science.gov (United States)

    Nair, Sushmita; Fort, John A; Yachnis, Anthony T; Williams, Charles A

    2015-06-01

    Noonan syndrome (NS; MIM 163950) is an autosomal dominant syndrome which is clinically diagnosed by the distinct facial features, short stature, cardiac anomalies and developmental delay. About 50% of cases are associated with gain of function mutations in PTPN11 gene which leads to activation of the RAS/mitogen-activated protein kinase signaling pathway. This is known to have a role in tumorigenesis. Despite this, only limited reports of solid tumors (Fryssira H, Leventopoulos G, Psoni S, et al. Tumor development in three patients with Noonan syndrome. Eur J Pediatr 2008;167:1025-1031; Schuettpelz LG, McDonald S, Whitesell K et al. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer 2009;53:1147-1149; Sherman CB, Ali-Nazir A, Gonzales-Gomez I, et al. Primary mixed glioneuronal tumor of the central nervous system in a patient with Noonan syndrome. J Pediatr Hematol Oncol 2009;31:61-64; Sanford RA, Bowman R, Tomita T, et al. A 16 year old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait. Pediatr Neurosurg 1999;30:47-52) and no prior reports of optic gliomas have been described in patients with NS. We present here a patient with NS with a PTPN11 mutation and an optic pathway pilomyxoid astrocytoma. © 2015 Wiley Periodicals, Inc.

  10. Outcome of patients treated for myelodysplastic syndromes with 5q deletion after failure of lenalidomide therapy

    OpenAIRE

    Prebet, Thomas; Cluzeau, Thomas; Park, Sophie; Sekeres, Mikkael A.; Germing, Ulrich; Ades, Lionel; Platzbecker, Uwe; Gotze, Katharina; Vey, Norbert; Oliva, Esther; Sugrue, Mary M.; Bally, Cecile; Kelaidi, Charikleia; Al Ali, Najla; Fenaux, Pierre

    2017-01-01

    While lenalidomide (LEN) is the standard of care for the lower-risk myelodysplastic syndromes (MDS) patients with deletion 5q, 35% will not respond to or do not tolerate the drug. Moreover, most of the patients will lose their response after a few years. Defining the outcome of patients with LEN failure and determining the impact of subsequent therapies is therefore important to develop alternative strategies. Based on an international collaboration, we were able to compile a total of 392 pat...

  11. Gait patterns in Prader-Willi and Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Albertini Giorgio

    2010-06-01

    Full Text Available Abstract Background Prader-Willi (PWS and Down Syndrome (DS are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies. Methods 19 PWS patients (17.7-40 yr and 21 DS patients (18-39 yr were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr. Results and Discussion The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p Conclusions Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.

  12. Cases of Churg-Strauss syndrome in patients receiving montelukast

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    Petrović Jelena

    2012-01-01

    Full Text Available Churg-Strauss syndrome is a rare disorder, but in patients with asthma it may develop as an adverse effect of the administered drugs. The aim of this study was to investigate possible causal relationship between montelukast and the occurrence of Churg-Strauss syndrome. Medical literature was reviewed by searching the databases 'Medline' and 'Googlescholar', in order to detect published cases of Churg-Strauss syndrome associated with use of montelukast. In this article is included 13 publications which contain the following keywords: montelukast, Churg-Strauss syndrome and side effects. Relationship between use of montelukast and development of Churg-Strauss syndrome was not clearly causal, although montelukast was associated with development and relapse of the syndrome. This fact supports the hypothesis that leukotriene antagonists are involved in the pathogenesis of this serious disease. Special attention should be paid to appearance of new symptoms in an asthmatic patient, already treated with corticosteroids, who start receiving leukotriene antagonists, especially if the dose of corticosteroids is reduced. Definitive confirmation or rejection of the hypothesis that leukotriene antagonists are directly involved in the development of this syndrome require further investigations.

  13. Inflammatory Cytokine Profile Associated with Metabolic Syndrome in Adult Patients with Type 1 Diabetes

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    Aldo Ferreira-Hermosillo

    2015-01-01

    Full Text Available Objective. To compare the serum concentration of IL-6, IL-10, TNF, IL-8, resistin, and adiponectin in type 1 diabetic patients with and without metabolic syndrome and to determine the cut-off point of the estimated glucose disposal rate that accurately differentiated these groups. Design. We conducted a cross-sectional evaluation of all patients in our type 1 diabetes clinic from January 2012 to January 2013. Patients were considered to have metabolic syndrome when they fulfilled the joint statement criteria and were evaluated for clinical, biochemical, and immunological features. Methods. We determined serum IL-6, IL-8, IL-10, and TNF with flow cytometry and adiponectin and resistin concentrations with enzyme linked immunosorbent assay in patients with and without metabolic syndrome. We also compared estimated glucose disposal rate between groups. Results. We tested 140 patients. Forty-four percent fulfilled the metabolic syndrome criteria (n=61, 54% had central obesity, 30% had hypertriglyceridemia, 29% had hypoalphalipoproteinemia, and 19% had hypertension. We observed that resistin concentrations were higher in patients with MS. Conclusion. We found a high prevalence of MS in Mexican patients with T1D. The increased level of resistin may be related to the increased fat mass and could be involved in the development of insulin resistance.

  14. Fluctuating Cotard syndrome in a patient with advanced Parkinson disease.

    Science.gov (United States)

    Solla, Paolo; Cannas, Antonino; Orofino, Gianni; Marrosu, Francesco

    2015-02-01

    Nonmotor fluctuations of psychiatric symptoms in patients suffering from Parkinson disease (PD) represent a very disabling condition, which may seriously interfere with the quality of life of patients and caregivers. In this regard, these disturbances are present with a higher frequency in advanced PD patients with associated motor complications and can appear both in "on" and in "off" period. Here we report on a case of fluctuating Cotard syndrome clearly related to "wearing-off" deterioration and responsive to levodopa treatment in a patient affected by advanced PD. A 76-year-old woman presented with a 13-year history of PD. Her caregivers reported that, in the last 2 months, she has developed a sudden onset of nihilistic delusion (Cotard syndrome), mainly during the "wearing-off" condition and associated with end of dose dyskinesias and akathisia.As Cotard syndrome clearly improved with the administration of levodopa, the patient was successfully treated changing the levodopa schedule with the shortening of intervals between levodopa intakes in small doses. Both the appearance of the Cotard syndrome in this patient during the "off" state and the subsequent improvement of psychotic symptoms after levodopa administration strongly suggest an important correlation with the dopaminergic dysregulation.This finding suggests that dopaminergic deficit might play a key factor in the development of Cotard syndrome.

  15. Total artificial heart implantation in a young Marfan syndrome patient.

    Science.gov (United States)

    Rao, Prashant; Keenan, Jack B; Rajab, Taufiek K; Kim, Samuel; Smith, Richard; Amabile, Orazio; Khalpey, Zain

    2018-03-01

    Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection. We implanted a total artificial heart with a good outcome. Total artificial heart is a durable option for severe biventricular failure and multiple valvular dysfunction as a bridge to transplant in a young patient with Marfan syndrome.

  16. Cyclic Bicytopenia in a Patient with Shapiro Syndrome

    Directory of Open Access Journals (Sweden)

    Lindsey E. Roeker

    2013-01-01

    Full Text Available Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond iron-deficiency anemia have not been documented in any of the reported cases of Shapiro syndrome or periodic hypothermia. Though accidental and therapeutic hypothermia have been associated with thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic hypothermia causing bicytopenia. In this report, we present the case of a patient with Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for cytopenias related to hypothermia, and propose possible mechanisms for the finding in this case.

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

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

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

  18. Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.

    Science.gov (United States)

    Varma, Neelam; Varma, Subhash; Marwaha, Ram Kumar; Malhotra, Pankaj; Bansal, Deepak; Malik, Kiran; Kaur, Sukhdeep; Garewal, Gurjeevan

    2006-07-01

    A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.

  19. Craniofacial morphology in Turner syndrome patients treated with growth hormone

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

    Full Text Available ABSTRACT Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth hormone in order to increase final height. At the same time, growth hormone treatment was found to influence craniofacial growth and morphology in various groups of treated patients. Whereas craniofacial characteristics of Turner syndrome patients are well documented, comparatively little is known of craniofacial morphology of those who are treated with growth hormone. Aim: The aim of this study was to investigate craniofacial morphology in Turner syndrome patients treated with growth hormone in comparison to healthy females. Materials and methods: The cephalometric evaluation was conducted on twenty lateral cephalograms of Turner syndrome patients (13.53 ± 4.04 years treated with growth hormone for at least one year (4.94 ± 1.92 years in average. As a control group, forty lateral cephalograms of healthy female controls, who matched Turner syndrome patients by chronological (11.80 ± 2.37 years and skeletal age, were used. Eleven angular, seven linear measurements and six dimensional ratios were measured to describe craniofacial morphology. Results: The results obtained for angular measurements, in cephalometric analyses for Turner syndrome patients treated with growth hormone, revealed bimaxillary retrognathism. The linear measurements indicated longer mandibular ramus, anterior cranial base and both anterior and posterior facial heights. However, posterior cranial base and maxilla were in proportion to the anterior cranial base, when comparing dimensional ratios. Anterior cranial base, maxilla and mandibular ramus were larger in proportion to mandibular body; as well as posterior facial height was when compared to anterior facial height. Turner syndrome patients treated with growth

  20. CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Anderson, Linda K

    2015-07-01

    Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

  1. Report of seven neurological patients with misidentification syndrome

    Directory of Open Access Journals (Sweden)

    Edson José Amâncio

    2004-12-01

    Full Text Available Objective: To present clinical, neuropsychological and laboratorydata on 7 patients with misidentification syndrome and to discussits possible etiologies and pathophysiology. Methods: Sevenpatients presenting misidentification syndrome, 6 female and 1male, aged 64-78 years were studied. All had a brain diseasediagnosed by clinical and laboratory data. All patients weresubmitted to general clinical examination, neurological andneuropsychological examinations, and brain magnetic resonanceimaging. Results: All patients were capable to recognizephotographs of relatives or famous persons. They presented goodvisual acuity that allowed them reading texts with small print andpreserved visual field. The etiologies of brain lesions were ischemicstroke, left temporal lobe tumor, idiopathic hydrocephalus in elderlypatients, Parkinson’s disease and probable Alzheimer’s disease.None presented enough cognitive disorders to characterize seniledementia. Conclusion: Misidentification syndromes are notnecessarily related to one single psychogenic etiology; on thecontrary, many organic causes may be related with the clinicalpicture. Most patients improved when submitted to treatmentwith typical or atypical neuroleptic drugs.

  2. Acute retroviral syndrome in Slovenian patients infected with HIV

    Directory of Open Access Journals (Sweden)

    Mateja Pirš

    2005-06-01

    Full Text Available Background: Two to six weeks after primary infection with HIV 50 to 90 percent of patients develop an acute retroviral syndrome which usually presents with mononucleosis or flu-like illness. Due to nonspecific symptoms ARS is frequently misdiagnosed.Patients and methods: Data of Slovenian patients with acute retroviral syndrome is shown, as well as their symptoms, approaches to management and diagnostic particularities of primary HIV infection.Conclusions: The combination of particular symptoms and epidemiological data should lead us to consider the possibility of an early HIV infection.

  3. Low awareness of the Charles Bonnet syndrome in patients attending a retinal clinic

    DEFF Research Database (Denmark)

    Singh, Amardeep; Subhi, Yousif; Sørensen, Torben Lykke

    2014-01-01

    Visually impaired patients may experience visual hallucinations due to the Charles Bonnet syndrome (CBS). While benign in nature, these hallucinations may cause distress in those unfamiliar with the phenomenon. The overall purpose of this study was to determine the degree of awareness of CBS...

  4. Risk factors for post-thrombotic syndrome in patients with a first deep venous thrombosis

    NARCIS (Netherlands)

    Tick, L. W.; Kramer, M. H. H.; Rosendaal, F. R.; Faber, W. R.; Doggen, C. J. M.

    2008-01-01

    BACKGROUND: Post-thrombotic syndrome (PTS) is a chronic complication of deep venous thrombosis (DVT). OBJECTIVES: To determine the risk of PTS after DVT and to assess risk factors for PTS. METHODS: Patients were recruited from the Multiple Environmental and Genetic Assessment (MEGA) study of risk

  5. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

    Directory of Open Access Journals (Sweden)

    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  6. Cogan's Syndrome in a Jordanian patient: A case report | Al ...

    African Journals Online (AJOL)

    We reported a Jordanian case of Cogan's Syndrome (CS). A 22-year old male patient presented with interstitial keratitis. The patient was treated successfully with topical steroids but over the following months, he developed vertigo, sensorineural hearing loss (SNHL) and generalized vasculitis. This is the first reported case ...

  7. Value of urine cytology in screening patients with prostatitis syndromes

    NARCIS (Netherlands)

    de la Rosette, J. J.; Hubregtse, M. R.; Wiersma, A. M.; Debruyne, F. M.

    1993-01-01

    We reviewed the results of urine cytology examination of 206 patients with a diagnosis of prostatitis syndromes in the period 1985-1991. The urine samples showed an incidence of 20.4% for slight to moderate atypia and 6.3% for severe atypia. In these patients, cystoscopy, bladder biopsies and

  8. A further patient with Pai syndrome with autosomal dominant inheritance?

    OpenAIRE

    Rudnik-Schöneborn, S; Zerres, K

    1994-01-01

    We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.

  9. Excess mortality in mothers of patients with polycystic ovary syndrome

    NARCIS (Netherlands)

    Louwers, Y. V.; Roest-Schalken, M. E.; Kleefstra, N.; van Lennep, J. Roeters; van den Berg, M.; Fauser, B. C. J. M.; Bilo, H. J. G.; Sijbrands, E. J. G.; Laven, J. S. E.

    STUDY QUESTION: Do diabetic parents of patients with polycystic ovary syndrome (PCOS) encounter excess mortality compared with the mortality of men and women with type 2 diabetes, recruited without selection for PCOS? SUMMARY ANSWER: Type 2 diabetes among mothers of PCOS patients results in excess

  10. Protein Carbonylation in Patients with Myelodysplastic Syndromes

    Czech Academy of Sciences Publication Activity Database

    Hlaváčková, A.; Štikarová, J.; Kotlín, R.; Chrastinová, L.; Šácha, Pavel; Májek, P.; Čermák, J.; Suttnar, J.; Dyr, J. E.

    2015-01-01

    Roč. 126, č. 23 (2015), s. 5232 ISSN 0006-4971. [Annual Meeting and Exposition of the American Society of Hematology /55./. 07.12.2013-10.12.2013, New Orleans] Institutional support: RVO:61388963 Keywords : protein carbonylation * myelodysplastic syndromes Subject RIV: CE - Biochemistry

  11. Posterior reversible encephalopathy syndrome in patient

    African Journals Online (AJOL)

    abp

    2015-05-26

    May 26, 2015 ... reversible Posterior leukoencephalopathy syndrome [1, 2]. The. PRES is a clinical and radiological entity associating varying degrees, headaches, impaired consciousness, seizures and visual disturbances to neurological and radiological abnormalities of the parietal-occipital white matter [3]. PRES has a ...

  12. The obesity of patients with Laron Syndrome is not associated with excessive nutritional intake.

    Science.gov (United States)

    Ginsberg, Shira; Laron, Zvi; Bed, Mira Arbiv; Vaisman, Nachum

    2009-03-01

    To study the metabolic parameters which may affect the excessive weight of treated and untreated patients with Laron Syndrome. Body composition, daily caloric intake and resting energy expenditure (REE), when possible, were measured for each patient. Caloric intake was calculated based on 7-day food records, REE was measured by indirect calorimetry and body composition was determined by dual energy X-ray absorptiometry (DEXA). Nine untreated adult subjects with Laron Syndrome (6 female subjects, 3 male subjects) aged 28-53 years and 4 girls with Laron Syndrome treated by insulin-like growth factor-I (IGF-I) 120-150 μg/kg/d were included in the study. Patients with Laron Syndrome have an abnormally high body fat (BF) mass (54 ± 10% of body weight) and a relatively low lean body mass (LBM) compared to a healthy normal population. Energy intake varied but in most of the patients was not significantly higher than the measured REE. The REE corrected for LBM was higher than expected, based on our norms for healthy adults. The mean distribution of energy sources in the food was 47% carbohydrates, 17% protein and 36% fat. The severe obesity of patients with Laron Syndrome is not due to hyperphagia or hypometabolism. © 2009 Asian Oceanian Association for the Study of Obesity . Published by Elsevier Ltd. All rights reserved.

  13. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

    Science.gov (United States)

    Kratz, C P; Holter, S; Etzler, J; Lauten, M; Pollett, A; Niemeyer, C M; Gallinger, S; Wimmer, K

    2009-06-01

    Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours. Other tumours, such as neuroblastoma, Wilm tumour, ovarian neuroectodermal tumour or infantile myofibromatosis, have so far been found only in individual cases. We analysed two consanguineous families that had members with suspected CMMR-D syndrome who developed rhabdomyosarcoma among other neoplasias. In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. Together with the family history and microsatellite instability observed in one tumour this strongly suggests an underlying PMS2 alteration in family 2 also. Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of CMMR-D syndrome. Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder.

  14. Risk Syndromes and Scales Determining Risk in Schizophrenia and Other Psychoses

    Directory of Open Access Journals (Sweden)

    Soner Cakmak

    2015-12-01

    Full Text Available Schizophrenia is a chronic disorder leading to lifelong deterioration of social and vocational functioning. Prodromal period, designates the time interval starting with emerging nonspecific signs and deficits and extending up to presentation of distinct and ongoing schizophrenic symptoms, is observed in most of schizophrenia patients. In schizophrenia, poor premorbid adjustment leads to a worse prognosis and thus early detection and intervention is required in prodromal period. To this end, under the heading of risk factors for schizophrenia and psychosis, classification and scales to determine the risk are being utilized. Most frequently used scales are; Bonn Scale for the Assessment of Basic Symptoms (BSABS, Comprehensive Assessment of At-Risk Mental States (CAARMS, Structured Interview for Psychosis-Risk Syndromes (SIPS. Through the light of these latest developments, recent edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5 added psychosis risk syndrome or attenuated psychosis syndrome to indicate risk of transition to psychosis. These approaches revealed that the risk of progression to psychosis was not reliably correlated with fulfilled criteria, but abscence of criteria credibly predicted the unlikelihood of psychosis emergence. Evidently, concomitant premorbid features and prodromal symptoms significantly increase the risk of progression to psychosis and schizophrenia in comparison to normal population. Nevertheless, specification and elaboration of risk criteria will enhance reliability of risk determination. [Archives Medical Review Journal 2015; 24(4.000: 494-508

  15. Effects of slow repetitive transcranial magnetic stimulation in patients with corticobasal syndrome.

    Science.gov (United States)

    Civardi, Carlo; Pisano, Fabrizio; Delconte, Carmen; Collini, Alessandra; Monaco, Francesco

    2015-06-01

    Corticobasal syndrome is characterized by asymmetric cortical sensorimotor dysfunction and parkinsonism; an altered cortical excitability has been reported. We explored with transcranial magnetic stimulation the motor cortical excitability in corticobasal syndrome, and the effects of slow repetitive transcranial magnetic stimulation. With transcranial magnetic stimulation, we studied two corticobasal syndrome patients. We determined bilaterally from the first dorsal interosseous muscle: relaxed threshold, and contralateral and ipsilateral silent period. We also evaluated the contralateral silent period after active/sham slow repetitive transcranial magnetic stimulation on the most affected side. At T0 the silent period was bilaterally short. On the most affected side, active slow repetitive transcranial magnetic stimulation induced a short lasting prolongation of the contralateral silent period. In corticobasal syndrome, transcranial magnetic stimulation showed a reduction cortical inhibitory phenomenon potentially reversed transiently by slow repetitive transcranial magnetic stimulation.

  16. Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

    Science.gov (United States)

    Sun, Tengyang; Xu, Ke; Ren, Yanfan; Xie, Yue; Zhang, Xiaohui; Tian, Lu; Li, Yang

    2018-03-01

    Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations. We found biallelic mutations in 92 probands (77.3%), monoallelic mutations in 5 patients (4.2%), and 1 hemizygous mutation in 1 patient (0.8%), resulting in an overall mutation detection rate of 78.2%. Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, and TULP1); and 1 nonsyndromic hearing loss gene (MYO15A) were identified, and 78 were novel. Mutations of MYOA7 were responsible for 60% of USH1 families, followed by PCDH15 (20%) and USH1C (10%). Mutations of USH2A accounted for 67.7% of USH2 families, and mutation c.8559-2A>G was the most frequent one, accounting for 19.1% of the identified USH2A alleles. Our results confirm that the mutation spectrum for each USH gene in Chinese patients differs from those of other populations. The formation of the mutation profile for the Chinese population will enable a precise genetic diagnosis for USH patients in the future.

  17. Determinants of early adult respiratory distress syndrome with special reference to chest radiography

    International Nuclear Information System (INIS)

    Wegenius, G.; Modig, J.; Akademiska Sjukhuset, Uppsala

    1985-01-01

    The medical records of 220 consecutive patients with traumatic injuries admitted to the intensive care unit in the years 1974-1982 were scrutinised in an attempt to find radiographic signs and clinical determinants of early adult respiratory distress syndrome (ARDS). All patients included in this study were considered to run a risk of developing ARDS and had 'pure' major fractures in the sense that there were no accompanying severe brain, chest or abdominal injuries. There were no deaths in this series of patients. ARDS developed in 27 patients (12.3%), on an average on the second day of trauma. Chest radiographs of 21 of these patients showed features indicative of ARDS, whereas those of the other 6 patients were normal despite hypoxaemia. In most of the 27 patients the only radiographic manifestation of ARDS was interstitial oedema; only a minority presented with alveolar oedema in addition. In 6 patients no radiographic changes ever occurred. Ventilator treatment with positive end expiratory pressure may have prevented the pulmonary insufficiency from becoming radiographically manifest. The clinical determinants of post-traumatic ARDS were a high fracture index, based on the number and severity of fractures, implying severe trauma, and shock on admission. Fluid overload was not found to be the cause of ARDS. (orig.)

  18. Treatment of orofacial pain in patients with stylomandibular ligament syndrome (Ernest Syndrome).

    Science.gov (United States)

    Peñarrocha-Oltra, D; Ata-Ali, J; Ata-Ali, F; Peñarrocha-Diago, M A; Peñarrocha, M

    2013-06-01

    Ernest syndrome involves the stylomandibular ligament. It is characterised by pain in the preauricular area and mandibular angle, radiating to the neck, shoulder, and eye on the same side, and associated with pain during palpation of that ligament. The purpose of this study is to describe the clinical characteristics, treatment, and course of the disease in a series of patients with Ernest syndrome. Retrospective observational study covering the period from 1998 to 2008. We recorded patients' age, sex, duration of the disorder, and pain characteristics. All patients were injected with 40mg triamcinolone acetonide at the mandibular insertion of the stylomandibular ligament. The study included a total of 6 patients. Mean age was 40.3 years (range, 35-51). All of the subjects were women. Four patients had undergone lengthy dental treatments in the month prior to onset of the pain. The mean time between pain onset and first consultation was 23 months. The syndrome resolved completely in all cases after treatment, with a minimum follow-up period of 12 months. We analysed the clinical characteristics, treatment, and course of disease in 6 patients with Ernest syndrome. Correct diagnosis is the key to being able to provide proper treatment. This disorder is sometimes confused with other types of orofacial pain, and may therefore be more prevalent than the literature would indicate. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  19. Budd-Chiari Syndrome in a Patient with Hepatitis C

    Directory of Open Access Journals (Sweden)

    Joseph Frankl

    2016-01-01

    Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

  20. What's in a Gene? Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient.

    Science.gov (United States)

    Pokrovskaya, Olya; O'Brien, Colm

    2016-01-01

    Pseudoexfoliation syndrome (PXS) and pigment dispersion syndrome (PDS) are two of the commonest disorders to produce secondary open-angle glaucoma through trabecular meshwork blockage. Each is a defined clinical entity, and while genetics likely play a significant role in the pathogenesis of both, the specific genes involved appear to be distinct. There is surprisingly little published in the literature regarding the coexistence of PDS and PXS in the same patient. We present the intriguing case of a patient who developed PDS in one eye and PXS in the other. This unusual case acts as a platform for an interesting discussion of the genomics of PXS and PDS.

  1. What's in a Gene Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient

    Directory of Open Access Journals (Sweden)

    Olya Pokrovskaya

    2016-01-01

    Full Text Available Pseudoexfoliation syndrome (PXS and pigment dispersion syndrome (PDS are two of the commonest disorders to produce secondary open-angle glaucoma through trabecular meshwork blockage. Each is a defined clinical entity, and while genetics likely play a significant role in the pathogenesis of both, the specific genes involved appear to be distinct. There is surprisingly little published in the literature regarding the coexistence of PDS and PXS in the same patient. We present the intriguing case of a patient who developed PDS in one eye and PXS in the other. This unusual case acts as a platform for an interesting discussion of the genomics of PXS and PDS.

  2. Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

    Science.gov (United States)

    Paolucci, Denise Gruccio; Bamba, Vaneeta

    2017-06-01

    Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.

  3. Adropin Levels in Polycystic Ovary Syndrome Patients

    OpenAIRE

    Hacer Sen

    2017-01-01

    Aim: Polycystic ovary syndrome (PCOS) is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP), homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin respo...

  4. Earlier Pulmonary Valve Replacement in Down Syndrome Patients Following Tetralogy of Fallot Repair.

    Science.gov (United States)

    Sullivan, Rachel T; Frommelt, Peter C; Hill, Garick D

    2017-08-01

    The association between Down syndrome and pulmonary hypertension could contribute to more severe pulmonary regurgitation after tetralogy of Fallot repair and possibly earlier pulmonary valve replacement. We compared cardiac magnetic resonance measures of pulmonary regurgitation and right ventricular dilation as well as timing of pulmonary valve replacement between those with and without Down syndrome after tetralogy of Fallot repair. Review of our surgical database from 2000 to 2015 identified patients with tetralogy of Fallot with pulmonary stenosis. Those with Down syndrome were compared to those without. The primary outcome of interest was time from repair to pulmonary valve replacement. Secondary outcomes included pulmonary regurgitation and indexed right ventricular volume on cardiac magnetic resonance imaging. The cohort of 284 patients included 35 (12%) with Down syndrome. Transannular patch repair was performed in 210 (74%). Down syndrome showed greater degree of pulmonary regurgitation (55 ± 14 vs. 37 ± 16%, p = 0.01) without a significantly greater rate of right ventricular dilation (p = 0.09). In multivariable analysis, Down syndrome (HR 2.3, 95% CI 1.2-4.5, p = 0.02) and transannular patch repair (HR 5.5, 95% CI 1.7-17.6, p = 0.004) were significant risk factors for valve replacement. Those with Down syndrome had significantly lower freedom from valve replacement (p = 0.03). Down syndrome is associated with an increased degree of pulmonary regurgitation and earlier pulmonary valve replacement after tetralogy of Fallot repair. These patients require earlier assessment by cardiac magnetic resonance imaging to determine timing of pulmonary valve replacement and evaluation for and treatment of preventable causes of pulmonary hypertension.

  5. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

    Science.gov (United States)

    Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

    2009-01-01

    Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype–phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects. PMID:18854871

  6. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Science.gov (United States)

    Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

    2009-04-01

    Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype-phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects.

  7. Frailty syndrome in patients with heart rhythm disorders.

    Science.gov (United States)

    Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

    2017-09-01

    To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

  8. Cardiac computed tomography in patients with acute coronary syndrome

    International Nuclear Information System (INIS)

    Schlett, C.L.; Bamberg, F.

    2014-01-01

    Currently, cardiac computed tomography (CT) is increasingly being implemented into clinical algorithms, primarily due to substantial technical advances over the last decade. Its use in the setting of suspected acute coronary syndrome is of particular relevance, given the high degree of accumulating scientific evidence of improving patient outcomes. Performing cardiac CT requires specific knowledge on the available scan acquisitions and patient preparation. Also, expertise is required in order to interpret the coronary and extra-coronary findings adequately. The present article provides an overview of the different aspects on the use of cardiac CT in the setting of acute coronary syndrome.

  9. Airway Management in a Patient with Wolf-Hirschhorn Syndrome.

    Science.gov (United States)

    Gamble, John F; Kurian, Dinesh J; Udani, Andrea G; Greene, Nathaniel H

    2016-01-01

    We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  10. Airway Management in a Patient with Wolf-Hirschhorn Syndrome

    Directory of Open Access Journals (Sweden)

    John F. Gamble

    2016-01-01

    Full Text Available We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  11. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    Science.gov (United States)

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

  12. Sensory Testing in Patients With Postthoracotomy Pain Syndrome

    DEFF Research Database (Denmark)

    Werner, Mads Utke; Ringsted, Thomas K; Kehlet, Henrik

    2013-01-01

    pain syndrome [PTPS (n=14)]. The primary outcome was investigation of the areas of sensory dysfunction, evaluated twice by dynamic sensory mapping with metal rollers and a brush. RESULTS:: In PTPS patients, sensory dysfunction was present on the surgical side, and in 12 of 14 patients MISD......OBJECTIVES:: Mirror-image sensory dysfunction (MISD) has not been systematically characterized in persistent postoperative pain. METHODS:: The presence of MISD was evaluated with standardized stimuli, in preoperative patients scheduled for a thoracotomy (n=14) and in patients with postthoracotomy...... of the PTPS patients experienced mirror pain. DISCUSSION:: MISD is a common finding in PTPS patients and deserves further study involving mechanism and clinical implications....

  13. Computed tomography in patients with Ehlers-Danlos syndrome

    International Nuclear Information System (INIS)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-01-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect. (orig.)

  14. Computed tomography in patients with Ehlers-Danlos syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-09-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.

  15. Gastric emptying in patients with chronic fatigue syndrome

    International Nuclear Information System (INIS)

    Sand, A.; Hulstaert, J.; Wanet, P.; Uyttersprot, A.; Meirleir, K. de

    2002-01-01

    Chronic fatigue syndrome (CFS) is a debilitating chronic illness of unknown cause characterized by mental fatigue and sensorimotor disturbances. Moreover, gastrointestinal symptoms (GI) are frequently noticed in those patients. A possible cause could be a dysfunction of the NANC neurotransmitter system in which Vasoactive Intestinal Polypeptide and NO plays an important role in the speed of the gastric relaxation. The Aim of this study was to determine the prevalence of gastric motility disorder in CFS patients. Materials and Methods: 51 patients affected by CFS (45 females and 6 males; mean age 38.5 ± 14.7 y) were prospectively studied by a gastric emptying scintigraphy and the results compared with a control population. The patients were categorized in two clinical groups according to the severity criteria of Holmes and Fukuda (H/F - or H/F +). The presence of GI symptoms was noticed for each patient. Gastric emptying was assessed by the standard procedure according to the guidelines of the Belgian Society of Nuclear Medicine. The acquisition of a series of 10 static images in anterior and posterior projections was started after a test meal (1 fried egg + 20 Mbq Tc99m sulfur colloids, 2 pieces of bread and 125 ml of water). Geometric means were calculated after correction for the half-life of Tc99m and the gastric half-emptying time (T1/2) was determined for each patient. Results: A significantly prolonged T 1/2 was found in CFS patients (97.8 ± 41.6 min) compared to our control population (70 ± 15 min) independently of the presence of associated GI symptoms. (p<0.01) There was also a close relationship between the T1/2 and severity of the CFS disease: the gastric emptying time of the two CFS groups (according to the H/F criteria) were respectively 78.9 and 112.9 min. which is highly significant. (p<0.05). Conclusion: We conclude that delayed gastric emptying is frequently encountered in patients with CFS (with mild or severe symptoms of gastroparesis) which

  16. Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Science.gov (United States)

    Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

    2017-11-01

    The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. © 2017 Wiley Periodicals, Inc.

  17. Determinants of patient satisfaction: a systematic review.

    Science.gov (United States)

    Batbaatar, Enkhjargal; Dorjdagva, Javkhlanbayar; Luvsannyam, Ariunbat; Savino, Matteo Mario; Amenta, Pietro

    2017-03-01

    A large number of studies have addressed the detection of patient satisfaction determinants, and the results are still inconclusive. Furthermore, it is known that contradicting evidence exists across patient satisfaction studies. This article is the second part of a two-part series of research with a goal to review a current conceptual framework of patient satisfaction for further operationalisation procedures. The aim of this work was to systematically identify and review evidence regarding determinants of patient satisfaction between 1980 and 2014, and to seek the reasons for contradicting results in relationships between determinants and patient satisfaction in the literature to design a further robust measurement system for patient satisfaction. This systematic review followed the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) statement. The search was conducted in PubMed, CINAHL, and Scopus in October 2014. Studies published in full in peer reviewed journals between January 1980 and August 2014 and in the English language were included. We included 109 articles for the synthesis. We found several number of determinants of patient satisfaction investigated in a wide diversity of studies. However, study results were varied due to no globally accepted formulation of patient satisfaction and measurement system. Health care service quality indicators were the most influential determinants of patient satisfaction across the studies. Among them, health providers' interpersonal care quality was the essential determinant of patient satisfaction. Sociodemographic characteristics were the most varied in the review. The strength and directions of associations with patient satisfaction were found inconsistent. Therefore, person-related characteristics should be considered to be the potential determinants and confounders simultaneously. The selected studies were not able to show all potential characteristics which may have had

  18. Supervised exercise improves cutaneous reinnervation capacity in metabolic syndrome patients.

    Science.gov (United States)

    Singleton, J Robinson; Marcus, Robin L; Lessard, Margaret K; Jackson, Justin E; Smith, A Gordon

    2015-01-01

    Unmyelinated cutaneous axons are vulnerable to physical and metabolic injury, but also capable of rapid regeneration. This balance may help determine risk for peripheral neuropathy associated with diabetes or metabolic syndrome. Capsaicin application for 48 hours induces cutaneous fibers to die back into the dermis. Regrowth can be monitored by serial skin biopsies to determine intraepidermal nerve fiber density (IENFD). We used this capsaicin axotomy technique to examine the effects of exercise on cutaneous regenerative capacity in the setting of metabolic syndrome. Baseline ankle IENFD and 30-day cutaneous regeneration after thigh capsaicin axotomy were compared for participants with type 2 diabetes (n = 35) or metabolic syndrome (n = 32) without symptoms or examination evidence of neuropathy. Thirty-six participants (17 with metabolic syndrome) then joined twice weekly observed exercise and lifestyle counseling. Axotomy regeneration was repeated in month 4 during this intervention. Baseline distal leg IENFD was significantly reduced for both metabolic syndrome and diabetic groups. With exercise, participants significantly improved exercise capacity and lower extremity power. Following exercise, 30-day reinnervation rate improved (0.051 ± 0.027 fibers/mm/day before vs 0.072 ± 0.030 after exercise, p = 0.002). Those who achieved improvement in more metabolic syndrome features experienced a greater degree of 30-day reinnervation (p Metabolic syndrome was associated with reduced baseline IENFD and cutaneous regeneration capacity comparable to that seen in diabetes. Exercise-induced improvement in metabolic syndrome features increased cutaneous regenerative capacity. The results underscore the potential benefit to peripheral nerve function of a behavioral modification approach to metabolic improvement. © 2014 American Neurological Association.

  19. Understanding polycystic ovary syndrome from the patient perspective: a concept elicitation patient interview study.

    Science.gov (United States)

    Martin, Mona L; Halling, Katarina; Eek, Daniel; Krohe, Meaghan; Paty, Jean

    2017-08-18

    The aim of this study was to explore the need for a new disease-specific patient reported outcome (PRO) measure for use in clinical trials of drugs designed to target the underlying causes of polycystic ovary syndrome (PCOS), and in the process contribute to our understanding of the symptoms and impacts that define the patient experience with PCOS. Semi-structured interviews were conducted in 20 women diagnosed with PCOS according to the Rotterdam criteria who had not menstruated in the previous month. The relative importance of PCOS symptoms and impact concepts to patients was determined by analyzing the frequency of their expression in the interview transcripts. These insights were compared to clinicians' perceptions of PCOS. Pain- and discomfort-related symptoms accounted for the highest proportion (27.6%) of the 735 patient expressions, although clinicians did not consider pain to be important to patients with PCOS. The most frequently expressed individual symptoms were cramping (70% of patients; 14.7% of concepts), irregular menstruation (95% of patients; 12.2% of concepts), facial hair growth (75% of patients; 10.6% of concepts), heavy bleeding (70% of patients; 8.8% of concepts), infertility (70% of patients; 5.4% of concepts), and bloating (60% of patients; 5.2% of concepts). Cramping, heavy bleeding, and bloating were not identified by clinicians as being important to patients with PCOS. The impacts most frequently reported by patients with PCOS related to emotional well-being (e.g. anxiety/stress) and coping behaviors (e.g. acne medication, hair removal). The only validated PCOS-specific PRO, the PCOSQ, does not capture some key PCOS symptoms and impacts expressed by patients with PCOS, most notably those related to pain and discomfort, bleeding intensity and coping behaviours. Furthermore, some key PCOS symptoms may be under-recognized in the clinic.

  20. Features of Turner syndrome among a group of Cameroonian patients.

    Science.gov (United States)

    Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

    2015-06-01

    To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  1. The Prevalence and Characteristics of Metabolic Syndrome in Patients with Vertigo

    OpenAIRE

    Yamanaka, Toshiaki; Fukuda, Takehiko; Shirota, Shiho; Sawai, Yachiyo; Murai, Takayuki; Fujita, Nobuya; Hosoi, Hiroshi

    2013-01-01

    OBJECTIVES/HYPOTHESIS: Metabolic syndrome (MetS) is a condition that increases the risk of coronary artery disease and cerebral infarction. We determined the prevalence of MetS in vertigo patients and clinically investigated the association between MetS and vertigo. STUDY DESIGN: Case-control study. METHODS: The subjects were 333 patients, including 107 males and 226 females, who presented with vertigo as a primary symptom. MetS was diagnosed according to the International Diabetes Federation...

  2. The effect of biofeedback therapy on dyssynergic constipation in patients with or without Irritable Bowel Syndrome

    OpenAIRE

    Tannaz Ahadi; Faezeh Madjlesi; Bahar Mahjoubi; Rezvan Mirzaei; Bijan Forogh; Seyedeh Somayeh Daliri; Seyed Majid Derakhshandeh; Roxana Bazaz Behbahani; G Reza Raissi

    2014-01-01

    Background: The Rome II and III diagnostic criteria for dyssynergic defecation recommended the exclusion of irritable bowel syndrome (IBS). This study determined the effect of biofeedback therapy on dyssynergic constipation in patients with or without IBS. Materials and Methods: This study was a nonrandomized, single blinded, semi experimental study. Dyssynergic defecation patients with and without IBS were asked to undergo biofeedback therapy 8 sessions. The defecation dynamics and balloon e...

  3. The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome

    Directory of Open Access Journals (Sweden)

    Younghak Lee

    2017-09-01

    Full Text Available BackgroundCushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined.MethodsA retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records.ResultsEosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome.ConclusionSmaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome.

  4. The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome.

    Science.gov (United States)

    Lee, Younghak; Yi, Hyon Seung; Kim, Hae Ri; Joung, Kyong Hye; Kang, Yea Eun; Lee, Ju Hee; Kim, Koon Soon; Kim, Hyun Jin; Ku, Bon Jeong; Shong, Minho

    2017-09-01

    Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined. A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records. Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome. Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome. Copyright © 2017 Korean Endocrine Society

  5. Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

    Directory of Open Access Journals (Sweden)

    Maki Fukami

    2012-01-01

    Full Text Available Aromatase excess syndrome (AEXS is a rare autosomal dominant disorder characterized by gynecomastia. This condition is caused by overexpression of CYP19A1 encoding aromatase, and three types of cryptic genomic rearrangement around CYP19A1, that is, duplications, deletions, and inversions, have been identified in AEXS. Duplications appear to have caused CYP19A1 overexpression because of an increased number of physiological promoters, whereas deletions and inversions would have induced wide CYP19A1 expression due to the formation of chimeric genes consisting of a noncoding exon(s of a neighboring gene and CYP19A1 coding exons. Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of CYP19A1 and the chimeric genes and by the structural property of the fused exons with a promoter function (i.e., the presence or the absence of a natural translation start codon. These results provide novel information about molecular mechanisms of human genetic disorders and biological function of estrogens.

  6. A patient with Werner syndrome and adiponectin gene mutation.

    Science.gov (United States)

    Hashimoto, Naotake; Hatanaka, Sachiko; Yokote, Koutaro; Kurosawa, Hiroko; Yoshida, Tomohiko; Iwai, Rie; Takahashi, Hidenori; Yoshida, Katsuya; Horie, Atsuya; Sakurai, Kenichi; Yagui, Kazuo; Saito, Yasushi; Yoshida, Shouji

    2007-01-01

    Werner syndrome is a premature aging disease characterized by genomic instability and increased cancer risk. Here, we report a 45-year-old diabetic man as the first Werner syndrome patient found to have an adiponectin gene mutation. Showing graying and loss of hair, skin atrophy, and juvenile cataract, he was diagnosed with Werner syndrome type 4 by molecular analysis. His serum adiponectin concentration was low. In the globular domain of the adiponectin gene, I164T in exon 3 was detected. When we examined effects of pioglitazone (15 mg/day) on serum adiponectin multimer and monomer concentrations using selective assays, the patient's relative percentage increased in adiponectin concentration was almost same as that in the 18 diabetic patients without an adiponectin mutation, but the absolute adiponectin concentration was half of those seen in diabetic patients treated with the same pioglitazone dose who had no adiponectin mutation. The response suggested that pioglitazone treatment might help to prevent future Werner syndrome-related acceleration of atherosclerosis. Present and further clinical relevant to atherosclerosis in this patient should be imformative concerning the pathogenesis and treatment of atherosclerosis in the presence of hypoadiponectinemia and insulin resistance.

  7. Total Endovascular Aortic Repair in a Patient with Marfan Syndrome.

    Science.gov (United States)

    Amako, Mau; Spear, Rafaëlle; Clough, Rachel E; Hertault, Adrien; Azzaoui, Richard; Martin-Gonzalez, Teresa; Sobocinski, Jonathan; Haulon, Stéphan

    2017-02-01

    The aim of this study is to describe a total endovascular aortic repair with branched and fenestrated endografts in a young patient with Marfan syndrome and a chronic aortic dissection. Open surgery is the gold standard to treat aortic dissections in patients with aortic disease and Marfan syndrome. In 2000, a 38-year-old man with Marfan syndrome underwent open ascending aorta repair for an acute type A aortic dissection. One year later, a redo sternotomy was performed for aortic valve replacement. In 2013, the patient presented with endocarditis and pulmonary infection, which necessitated tracheostomy and temporary dialysis. In 2014, the first stage of the endovascular repair was performed using an inner branched endograft to exclude a 77-mm distal arch and descending thoracic aortic aneurysm. In 2015, a 63-mm thoracoabdominal aortic aneurysm was excluded by implantation of a 4-fenestrated endograft. Follow-up after both endovascular repairs was uneventful. Total aortic endovascular repair was successfully performed to treat a patient with arch and thoraco-abdominal aortic aneurysm associated with chronic aortic dissection and Marfan syndrome. The postoperative images confirmed patency of the endograft and its branches, and complete exclusion of the aortic false lumen. Endovascular repair is a treatment option in patients with connective tissue disease who are not candidates for open surgery. Long-term follow-up is required to confirm these favorable early outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. The Quintessence of Traditional Chinese Medicine: Syndrome and Its Distribution among Advanced Cancer Patients with Constipation

    Directory of Open Access Journals (Sweden)

    Chung-Wah Cheng

    2012-01-01

    Full Text Available Constipation is a common problem in advanced cancer patients; however, specific clinical guidelines on traditional Chinese medicine (TCM syndrome (Zhang are not yet available. In this cross-sectional study, the TCM syndromes distribution and their common symptoms and signs among 225 constipated advanced cancer patients were determined. Results showed that 127 patients (56.4% and 7 patients (3.1% were in deficient and excessive patterns, respectively, while 91 patients (40.4% were in deficiency-excess complex. The distributions of the five syndromes were: Qi deficiency (93.3%, Qi stagnation (40.0%, blood (Yin deficiency (28.9%, Yang deficiency (22.2%, and excess heat (5.8%. Furthermore, age, functional status, and level of blood haemoglobin were factors related to the type of TCM syndrome. A TCM prescription with the functions on replenishing the Deficiency, redirecting the flow of Qi stagnation and moistening the dryness caused by the blood (Yin deficiency can be made for the treatment of advance cancer patients with constipation. Robust trials are urgently needed for further justifying its efficacy and safety in evidence-based approaches.

  9. Psychological underpinning of personalized approaches in modern medicine: syndrome analysis of mitral valve prolapsed patients

    Directory of Open Access Journals (Sweden)

    Zinchenko, Yury P.

    2013-06-01

    Full Text Available The article aims to demonstrate a high efficiency of the methodological means suggested by psychological syndrome analysis approach (Vygotsky-Luria school for solving theoretical and applied issues in contemporary person-centered medicine. This is achieved through an example of empirical study meant to construct a psychosomatic syndrome for 290 patients with mitral valve prolapse (MVP. Analysis of all collected data was based on psychological syndrome analysis concept (Vygotsky–Luria school and A.R. Luria’s principles for psychological factors (causes selection, which determine the logic and structure of a neuropsychological syndrome. It demonstrated the association between characteristics of emotional experiences and clinical symptoms manifested in MVP patients. This correlation was statistically verified. The results proved that the most important syndrome-establishment factor (radical is a specific emotionality and dysfunction of emotion regulation and emotional control in MVP patients (excessive emotional repression with insufficient reflection of emotional experiences. Features of the motivation sphere of MVP patients appear as a second psychological syndrome-establishment factor: these are domination of the motive of failure avoidance and unsatisfied self-approval need. We argue that psychological syndrome analysis can be used as a means to approach not only diagnostic but also prognostic tasks both in clinical psychology and medicine, as well as for the development and implementation of the person-centered integrative diagnosis model. We maintained that this approach, applied in theoretical and practical fields of clinical psychology and mental health care is highly efficient at the current stage of the science evolution due to prospects revealed by s new methodological context of postnonclassical model of rationality and a comprehensive character of the cultural-historical concept regarding an individual and his mind as a self

  10. Characterization of thrombosis in patients with Proteus syndrome.

    Science.gov (United States)

    Keppler-Noreuil, Kim M; Lozier, Jay N; Sapp, Julie C; Biesecker, Leslie G

    2017-09-01

    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism. Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb. Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies. We observed that eight of 17 patients had an abnormal D-dimer level >0.5 mcg/dl, but deep venous thromboses occurred in only four of those with D-dimer >1.0 mcg/dl. We conclude that the predisposition to thrombosis is likely to be multifaceted with risk factors including vascular malformations, immobility, surgery, additional prothrombotic factors, and possible pathophysiologic effects of the somatic AKT1 mutation on platelet function or the vascular endothelium. The D-dimer test is useful as a screen for thromboembolism, although the screening threshold may need to be adjusted for patients with this disorder. We propose developing a registry to collect D-dimer and outcome data to facilitate adjustment of the D-dimer threshold for Proteus syndrome and related disorders, including PIK3CA-Related Overgrowth Spectrum. © 2017 Wiley Periodicals, Inc.

  11. Protocol for physical assessment in patients with fibromyalgia syndrome.

    Science.gov (United States)

    dos Santos, Michele R; Moro, Claudia M C; Vosgerau, Dilmeire S R

    2014-01-01

    Fibromyalgia syndrome (FMS) is a chronic disease that causes pain and fatigue, presenting a negative impact on quality of life. Exercise helps maintaining physical fitness and influences directly on the improvement of quality of life. Develop a protocol for health-related physical fitness assessment of patients with FMS with tests that are feasible and appropriate for this population. An exploratory and analytical literature review was performed, seeking to determine the tests used by the scientific community. With this in mind, we performed a literature revision through the use of virtual libraries databases: PubMed, Bireme, Banco de Teses e Dissertações da Capes and Biblioteca Digital Brasileira de Teses e Dissertações, published in between 1992-2012. A variety of tests was found; the following, by number of citations, stood out: Body Mass Index (BMI) and bioimpedance; 6-minute walk; handgrip strength (dynamometer, 1RM [Repetition Maximum]); Sit and reach and Shoulder flexibility; Foot Up and Go, and Flamingo balance. These are the tests that should make up the protocol for the physical evaluation of FMS patients, emphasizing their ease of use.

  12. Quantitative Sensory Testing in Patients With Postthoracotomy Pain Syndrome

    DEFF Research Database (Denmark)

    Wildgaard, Kim; Ringsted, Thomas K; Kehlet, Henrik

    2013-01-01

    -retest variability of thermal thresholds in patients (n=14) with the postthoracotomy pain syndrome. METHODS:: Sensory mapping with a metal roller (25°C) on the surgical side delineated an area with cool sensory dysfunction. In this area and in a contralateral area, 4 prespecified sites (2.6 cm) were outlined...... was demonstrated, the much lower within-patient than between-patient variances facilitated estimations of highly statistical significant, within-patient differences in thermal thresholds. DISCUSSION:: In patients with postthoracotomy pain syndrome, several statistical methods indicated an excessively high......, in addition to the maximum pain site on the surgical side. In these total 9 sites, warmth detection threshold, cool detection threshold, and heat pain threshold were assessed. RESULTS:: Comparisons of thermal test-retest assessments did not demonstrate any significant intraside differences. The SDs...

  13. A Brazilian cohort of patients with Tourette's syndrome.

    Science.gov (United States)

    Cardoso, F; Veado, C C; de Oliveira, J T

    1996-01-01

    The clinical features of 32 patients (24 males) with Tourette's syndrome in Brazil were studied. The mean age at onset was 7.1 years, tics being the first symptom in 71% and hyperactivity in 29%. Blinking, grimacing, and shoulder elevation were the most common motor tics and sniffing, throat clearing, and grunting noises, the most frequent vocal tics. Coprolalia was present in 28%, echolalia in 16%, palilalia in 9%, and copropraxia in 25% of patients. Attention deficit and hyperactivity disorder was diagnosed in 63%, and obsessive compulsive behaviour in 44% of patients. In 84% of patients there was a family history of tics whereas attention deficit and hyperactivity disorder and obsessive compulsive behaviour were respectively present in relatives of 19% and 53% of the patients studied. These data suggest that Tourette's syndrome in Brazil is not clinically different from other countries, supporting the notion that genetic factors play the most important part in its aetiology. PMID:8708658

  14. CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

    Science.gov (United States)

    Itty, Sujit; Richter, Elizabeth R; McCannel, Tara A

    2015-01-01

    To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. Clinical examination and multimodal imaging of the case. A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.

  15. Respiratory problems in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Fete, Timothy

    2014-10-01

    The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms. © 2014 Wiley Periodicals, Inc.

  16. Prognosis of patients treated for Cushing syndrome.

    Science.gov (United States)

    Aulinas, Anna; Valassi, Elena; Webb, Susan M

    2014-01-01

    Cushing syndrome (CS), due to an ACTH-secreting pituitary adenoma, adrenal tumors, or ectopic ACTH secretion, causes hypercortisolism. CS is associated with major morbidity, especially metabolic and cardiovascular complications, osteoporosis, psychiatric changes, and cognitive impairment. Despite biochemical "cure" of hypercortisolism and clinical improvement after effective treatment, these complications are only partially reversible. Exacerbation of prior autoimmune diseases is also seen. All of these lead to quality of life impairment and increased mortality. This review addresses the main comorbidities and long-term consequences of CS despite clinical and biochemical "cure". Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

  17. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

    DEFF Research Database (Denmark)

    Marcos, Séverine; Sarfati, Julie; Leroy, Chrystel

    2014-01-01

    CONTEXT: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital hypoplasia, ear anomalies) syndrome, have been reported in patients presenting with Kallmann syndrome (KS) or congenital hypogonadotropic...... hypogonadism (CHH). Most mutations causing CHARGE syndrome result in premature stop codons and occur de novo, but the proportion of truncating vs nontruncating mutations in KS and CHH patients is still unknown. OBJECTIVE: The objective of the study was to determine the nature, prevalence, mode of transmission......, and clinical spectrum of CHD7 mutations in a large series of patients. DESIGN: We studied 209 KS and 94 CHH patients. These patients had not been diagnosed with CHARGE syndrome according to the current criteria. We searched for mutations in 16 KS and CHH genes including CHD7. RESULTS: We found presumably...

  18. Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome.

    OpenAIRE

    Abidi, S M; Griffiths, M; Oscier, D G; Mufti, G J; Hamblin, T J

    1986-01-01

    A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present.

  19. Acute coronary syndrome in a patient with Marfan syndrome following emergent surgical repair of aortic dissection.

    Science.gov (United States)

    Bovolato, Francesca Elisa; Isabella, Giambattista; Rampazzo, Debora; Guglielmi, Cosimo; Gerosa, Gino; Iliceto, Sabino; Bilato, Claudio

    2008-06-01

    We report a case of acute coronary syndrome in a patient with suspect Marfan syndrome, 25 days after emergent modified Bentall-De Bono intervention for acute type I peripartum aortic dissection. She was admitted to our intensive care unit because of unstable angina, caused by critical blood flow reduction in a large portion of the myocardium, according to the severity of the symptoms and the electrocardiographic alterations. Coronary angiography showed a sub-occlusive stenosis of the left main coronary artery as a result of the dissection extension to the coronary ostium. Because of the high risk related to heart surgery, the patient was successfully treated by unprotected angioplasty and drug-eluting stent positioning. Short- and mid-term outcomes were favourable. Subsequent tests confirmed the diagnosis of Marfan syndrome. After 2 years of follow-up, the patient remains asymptomatic and in good health. To our knowledge, this is the first report of a successful percutaneous intervention of the left main coronary artery in a patient with Marfan syndrome who had already undergone ascending aortic root and valve replacement by the Bentall-De Bono procedure for acute dissection.

  20. Managing a patient with burning mouth syndrome

    Science.gov (United States)

    Cheung, Danny; Trudgill, Nigel

    2015-01-01

    A 64-year-old woman presented with an increasing frequency of symptoms of heartburn and retrosternal pain over the last few months, and a constant and intense burning pain affecting her tongue tip, mouth and lips for the past 5 years. She found consuming hot drinks exacerbated the burning oral pain and chewing gum seemed to alleviate some of her symptoms. She thought these oral sensations were caused by frequently licking her finger tips to separate prints in her work in publishing. She had been previously diagnosed with gastro-oesophageal reflux disease (GORD), and her heartburn symptoms had been controlled until recently with lansoprazole 15 mg daily. Her past medical history included irritable bowel syndrome and depression, for which she had been treated with mebeverine and paroxetine for a number of years. She was a non-smoker and did not consume alcohol. Clinical examination was unremarkable with no oral lesions on examination. Her routine laboratory tests, including autoimmune serology, haematinics and thyroid function tests were all within normal limits. She underwent a gastroscopy, which revealed moderate reflux oesophagitis, and following commencing omeprazole 20 mg twice daily, her heartburn resolved. However, her oral burning symptoms were not affected and a diagnosis of burning mouth syndrome (BMS) was made. Following explanation and reassurance concerning the cause of her BMS symptoms, she chose not to receive treatment for this but to access cognitive behavioural therapy in the future if her symptoms worsened. PMID:28839812

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

    Science.gov (United States)

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

    2012-06-01

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

  2. Metabolic syndrome: frequency and gender differences at an out-patient clinic

    International Nuclear Information System (INIS)

    Jahan, F.; Qureshi, R.; Borhany, T.; Hamza, H.B.

    2007-01-01

    To determine the frequency of metabolic syndrome among patients attending an out-patient clinic of a teaching hospital and to compare the clinical features regarding metabolic syndrome among males and females. All adults, above 25 years, attending the clinics for an executive check-up and giving informed consent were included in the study. Data was collected through a structured questionnaire administered to those eligible to participate. Metabolic syndrome was defined according to ATP-III guidelines. There were 250 participants in this study. Mean age of study participants was 48.94 (SD10.62) years, while approximately two-thirds, 157 (62.8%), were male. Metabolic syndrome (those who had 3 or more risk factors) was present in 35.2% of adults. Fasting blood sugar level was raised in 36.4% of study participants while significant number of participants (78.8%) had a Body Mass Index (BMI) Z 25 (p = 0.02). Frequency of metabolic syndrome was significantly high in this study with preponderance of males and prevalence similar to that observed in developed countries. Majority of patients had obesity and high fasting blood sugar levels. Males demonstrated higher levels of triglycerides and low levels of High-density lipoprotein (HDL) compared to females while blood pressure reading was observed to be the same in both males and females. (author)

  3. Risk of development of chronic kidney disease in patients with type 2 diabetes having metabolic syndrome

    International Nuclear Information System (INIS)

    Moin, S.; Gondal, G.M.G.

    2008-01-01

    To measure the relation of creatinine clearance in type-2 diabetic patients with different components of metabolic syndrome and to quantify the relationship of frequency of incident CKD with increasing number of metabolic syndrome components while controlling for age, gender and duration of diabetes. Cross-sectional descriptive study. Patients having type-2 Diabetes for more than 5 years were enrolled. Information regarding age, gender, duration of diabetes, type of diabetes, treatment taking, complete fasting lipid profile, fasting blood glucose, Body Mass Index (BMI), 24 hours urinary proteins and creatinine clearance, co-existent risk factors like hypertension and ischemic heart disease was taken. Patients were divided into groups having one to all five metabolic syndrome traits. Progressive increase in the metabolic syndrome traits was compared with decline in creatinine clearance. Pearson correlation test and multiple logistic regression were applied to determine correlation with significance at r and p <0.05. Out of 104 evaluated female and male patients, 70% had hypertension, ischemic heart disease and a family history of diabetes. While 20% had normal creatinine clearance, 37% had a creatinine clearance between 60-90 ml/min, 19% had a creatinine clearance of 30-59 ml/min, 18% had a creatinine clearance of less than 30 ml/min and 10% were already in stage 5 CKD. The decline in renal function was more severe in subjects evaluated who had a higher number of features of the metabolic syndrome. Age was the only significant determinant of development of CKD (p=0.05). The renal function progressively declined with 3 or more features of the metabolic syndrome. (author)

  4. What are patients with Rett syndrome interested in?

    Science.gov (United States)

    Hirano, Daisuke; Taniguchi, Takamichi

    2018-02-01

    [Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan. We used descriptive statistics and content analysis to examine the answers to the questionnaires. [Results] Information was acquired from 216 individuals (3-53 years old) with Rett syndrome. 92.9% of the individuals were reported to have some interests (e.g., in people, music, things to see, animation, or books). [Conclusion] Individuals with Rett syndrome were observed to be interested in various things despite their having severe motor and intellectual disabilities. These findings suggest that family members and care staff might facilitate various changes or developments of these individuals and discover their hidden strengths by focusing on their interests.

  5. Surgical Management of Mitral Regurgitation in Patients with Marfan Syndrome during Infancy and Early Childhood

    Directory of Open Access Journals (Sweden)

    Eung Re Kim

    2015-02-01

    Full Text Available Background: Mitral regurgitation is one of the leading causes of cardiovascular morbidity in pediatric patients with Marfan syndrome. The purpose of this study was to contribute to determining the appropriate surgical strategy for these patients. Methods: From January 1992 to May 2013, six patients with Marfan syndrome underwent surgery for mitral regurgitation in infancy or early childhood. Results: The median age at the time of surgery was 47 months (range, 3 to 140 months and the median follow-up period was 3.6 years (range, 1.3 to 15.5 years. Mitral valve repair was performed in two patients and four patients underwent mitral valve replacement with a mechanical prosthesis. There was one reoperation requiring valve replacement for aggravated mitral regurgitation two months after repair. The four patients who underwent mitral valve replacement did not experience any complications related to the prosthetic valve. One late death occurred due to progressive emphysema and tricuspid regurgitation. Conclusion: Although repair can be an option for some patients, it may not be durable in infantile-onset Marfan syndrome patients who require surgical management during infancy or childhood. Mitral valve replacement is a feasible treatment option for these patients.

  6. Diagnosis and treatment of 409 patients with prostatitis syndromes

    NARCIS (Netherlands)

    de la Rosette, J. J.; Hubregtse, M. R.; Meuleman, E. J.; Stolk-Engelaar, M. V.; Debruyne, F. M.

    1993-01-01

    We reviewed 409 patients who had prostatitis syndromes during the period 1985-1991. Urine analysis, x-ray film of abdomen, and sonograms of the kidneys did not contribute to the diagnosis of prostatitis. In 22 percent of the urine samples, slight-to-moderate atypia was seen in urine cytology but no

  7. Prader-Willi syndrome in South African patients clinical and ...

    African Journals Online (AJOL)

    Prader-Willi syndrome in. South African patients clinical and molecular diagnosis. A L Christianson, 0 L Viljoen, W S Winship,. M de la Rey, E J van Rensburg. Study objective. ... This probe detects a parent-of-origin-specific methylation imprint at locus ... These studies were undertaken in the Molecular Genetic. Laboratory of ...

  8. Metabolic Syndrome in Patients attending the Staff Clinic of a ...

    African Journals Online (AJOL)

    Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

  9. Pulsatile thyrotropin secretion in patients with Cushing's syndrome

    NARCIS (Netherlands)

    Adriaanse, R.; Brabant, G.; Endert, E.; Wiersinga, W. M.

    1994-01-01

    Pulsatile and circadian thyrotropin (TSH) secretion were studied in 16 healthy controls and in three patients with Cushing's syndrome who were studied twice (before and after treatment). Blood was sampled every 10 minutes over 24 hours for TSH (immunoradiometric assay [IRMA]). Mean 24-hour TSH in

  10. Testicular cancer in a patient with Primrose syndrome

    NARCIS (Netherlands)

    Mathijssen, Inge B.; van Hasselt-van der Velde, Jos; Hennekam, Raoul C. M.

    2006-01-01

    A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ

  11. Atrial fibrillation in patients with sick sinus syndrome

    DEFF Research Database (Denmark)

    Nielsen, Jens Cosedis; Thomsen, Poul Erik B; Højberg, Søren

    2012-01-01

    between minimal-paced programmed AVI = 100 and >100 ms (median value), respectively (P= 0.60).ConclusionsThe present study indicates that a longer baseline PQ-interval is associated with an increased risk of AF in patients with sick sinus syndrome. Atrial fibrillation burden is not associated...

  12. Hemorrhagic abscess in a patient with the acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Casado-Naranjo, I.; Lopez-Trigo, J.; Ferrandiz, A.; Cervello, A.; Navarro, V.

    1989-01-01

    Cerebral toxoplasmosis is frequent among patients with the acquired immunodeficiency syndrome. The common computed tomography appearance of this complication is multiple low density area with ring enhancement. We describe a very rare picture of cerebral toxoplasmosis, this is multiple hemorrhagic toxoplasmic abscess. (orig.)

  13. Difficult airway in a patient with Coffin-Siris syndrome.

    Science.gov (United States)

    Dimaculangan, D; Lokhandwala, B; Wlody, D; Gross, R

    2001-02-01

    We report on a patient with Coffin-Siris syndrome and consider a potential association between this condition and difficult intubation. Although this inherited condition is extremely rare, anesthesiologists should be aware of its existence and prepare for potential airway management problems whenever it is encountered.

  14. The identification of Lynch syndrome in Congolese colorectal cancer patients.

    Science.gov (United States)

    Poaty, Henriette; Aba Gandzion, Chandra; Soubeyran, Isabelle; Gassaye, Déby; Peko, Jean Félix; Nkoua Bon, Jean Bernard; Gombé Mbalawa, Charles

    2017-10-01

    We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  15. Perception of lactose intolerance in irritable bowel syndrome patients.

    Science.gov (United States)

    Dainese, Raffaella; Casellas, Francesc; Mariné-Barjoan, Eugènia; Vivinus-Nébot, Mylène; Schneider, Stéphane M; Hébuterne, Xavier; Piche, Thierry

    2014-10-01

    The importance of lactose malabsorption in irritable bowel syndrome (IBS) is not well defined and these patients often complain of lactose intolerance. To objectively measure lactose malabsorption, a hydrogen breath test (HBT) can be performed, but a discrepancy emerges between the results of the HBT and the symptomatic response during the HBT. To determine in a group of IBS patients whether self-perceived lactose intolerance and the symptomatic response to lactose HBT were conditioned by other factors besides the presence of lactose malabsorption. Oral challenge to lactose (50 g) was tested in 51 IBS patients to assess HBT malabsorption and the symptomatic response to lactose intolerance was scored on a validated questionnaire. Allergological screening for common inhalants and food allergens (including cow's milk) was performed. The presence of psychological factors (e.g. anxiety, depression, fatigue) was evaluated using validated questionnaires. A total of 21 out of 51 patients (41.1%) were self-perceived to be lactose intolerant, 24/51 (47%) had a positive HBT, and 14/51 (27.4%) presented with symptoms of lactose intolerance during HBT. The serological screening for inhalant and food allergens was positive in 6/21 (28.6%) and 4/21 (19%) of patients who self-perceived lactose intolerance and in 5/14 (37.5%) and 3/14 (21.4%) in intolerant patients symptomatic during HBT. Only 1/51 (1.9%) presented evidence of IgE-mediated hypersensitivity to cow's milk. Patients who experienced symptoms of lactose intolerance during HBT presented more severe IBS symptoms [326 (296-398) vs. 215 (126-295) P=0.05] and a higher score of anxiety, depression, and fatigue. Factors influencing the symptoms of lactose intolerance during HBT resulted in an increase in hydrogen produced and in the severity of IBS. In a cohort of 51 IBS patients, the symptoms of lactose intolerance during HBT were influenced by the capacity to absorb lactose and the severity of IBS. Other factors, such as

  16. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

    Science.gov (United States)

    Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

    2017-06-01

    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

  17. Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome

    DEFF Research Database (Denmark)

    Kempny, Aleksander; Hjortshøj, Cristel Sørensen; Gu, Hong

    2017-01-01

    : In a multicenter approach, we identified adults with Eisenmenger syndrome under follow-up between 2000 and 2015. We examined survival and its association with clinical, electrocardiographic, echocardiographic, and laboratory parameters. RESULTS: We studied 1098 patients (median age, 34.4 years; range, 16.......1-84.4 years; 65.1% female; 31.9% with Down syndrome). The majority had a posttricuspid defect (n=643, 58.6%), followed by patients with a complex (n=315, 28.7%) and pretricuspid lesion (n=140, 12.7%). Over a median follow-up of 3.1 years (interquartile range, 1.4-5.9), allowing for 4361.6 patient......-years observation, 278 patients died and 6 underwent transplantation. Twelve parameters emerged as significant predictors of death on univariable analysis. On multivariable Cox regression analysis, only age (hazard ratio [HR], 1.41/10 years; 95% confidence interval [CI], 1.24-1.59; P

  18. DETERMINATION OF FIBROMYALGIA SYNDROME FOLLOWING WHIPLASH INJURIES: METHODOLOGIC ISSUES

    Science.gov (United States)

    Robinson, James P.; Theodore, Brian R.; Wilson, Hilary D.; Waldo, Peter G.; Turk, Dennis C.

    2011-01-01

    Problems in diagnosing FM among motor vehicle collision (MVC) patients with whiplash (WL) include: the predominance of tender points (TPs) in the neck/shoulder girdle region; the 3-month duration of widespread pain criterion; and, the stability of diagnosis. The present study examined the prevalence of FM in a cohort (N = 326) with persistent neck pain 3 months following WL injury who were enrolled in a treatment program. Physical examinations were performed at baseline and at the end of treatment. Results indicated that WL patients had a greater proportion of neck/shoulder girdle TPs, relative to distal TPs. Compared to a matched cohort of treatment-seeking FM patients, WL patients indicated less distal TPs (M = 7.3 TPs vs. M = 5.6 TPs, p < 0.001), but were equivalent on neck/shoulder girdle TPs (M = 9.0 TPs vs. 9.2 TPs, ns). Baseline prevalence of FM for the WL cohort based on ACR criteria was 14% (95% CI: 10% – 18%), adjusted TP criterion discounting for neck/shoulder tenderness indicated a prevalence of FM of 8% (95% CI: 5% – 11%). Finally, 63% of patients meeting American College of Rheumatology FM criteria at baseline did not meet this criterion at post-treatment (approx. 6-months post-MVC). In conclusion, present criteria used in determining FM may result in spuriously inflated rates of diagnosis among WL patients due to persistent localized tenderness following MVC. Furthermore, the transient nature of FM “symptoms” among WL patients should be taken into account before making a final diagnosis. PMID:21419574

  19. Isolation of Chlamydia trachomatis or Ureaplasma urealyticum from the synovial fluid of patients with Reiter's syndrome

    Directory of Open Access Journals (Sweden)

    Pavlica Ljiljana

    2003-01-01

    Full Text Available Background. The aim of this study was to contribute to the insight of the role of the infectious agent in ethiopathogenesis of the Reiter’s syndrome development, which could directly influence the choise of treatment of these patients. Methods. Eighteen patients with urogenital form of the Reiter’s syndrome and 16 controls (6 with rheumatoid arthritis and 10 with pigmented villonodular synovitis were included in the study. In all patients standard laboratory analyses of the blood, urine and stool were made; antibody titer to Chlamydia trachomatis and Ureaplasma urealyticum was determined in synovial fluid and serum; isolation of Chlamydia trachomatis and Ureaplasma urealyticum in urethral, cervical and conjunctival swabs, as well as in prostatic and synovial fluid, was also made. HLA typing was done, too. Chlamydia was isolated in the McCoy cell culture treated with cycloheximide while Ureaplasma was identified according to its biochemical properties grown on cell-free liquid medium. Results. Chlamydia trachomatis was isolated from the synovial fluid of 4 patients with Reiter's syndrome 22.2%, while Ureaplasma urealyticum was isolated in 7 of them (38.9%. These microorganisms were not found in any synovial fluid of the control group patients. Conclusion. Presence of these bacteria in the inflamed joint might be an important factor in etiopathogenesis of this disease, and it supports the hypothesis that arthritis in Reiter's syndrome is probably of the infectious origin.

  20. Disturbed adiponectin – AMPK system in skeletal muscle of patients with metabolic syndrome.

    Science.gov (United States)

    Van Berendoncks, An M; Stensvold, Dorthe; Garnier, Anne; Fortin, Dominique; Sente, Tahnee; Vrints, Christiaan J; Arild, Slørdahl Stig; Ventura-Clapier, Renee; Wisløff, Ulrik; Conraads, Viviane M

    2015-02-01

    Patients with metabolic syndrome are characterized by low circulating adiponectin levels and reduced adiponectin sensitivity in skeletal muscles. Through binding on its main skeletal muscle receptor AdipoR1, adiponectin activates AMP-activated protein kinase (AMPK), a key player in energy homeostasis. Fourteen metabolic syndrome patients and seven healthy control subjects were included. Blood samples were taken to determine insulin resistance, adiponectin, lipoproteins, and C-reactive protein. Muscle biopsies (m. vastus lateralis) were obtained to assess mRNA expression of AdipoR1 and both AMPKα1 and AMPKα2 subunits, as well as downstream targets in lipid and glucose metabolism. Skeletal muscle mRNA expression of AMPKα1 and AMPKα2 was lower in metabolic syndrome patients (100 ± 6 vs. 122 ± 8 AU, p = 0.030 and 64 ± 4 vs. 85 ± 9 AU, p = 0.044, respectively), whereas the expression of AdipoR1 was upregulated (138 ± 9 vs. 105 ± 7, p = 0.012). AMPKα1 and AdipoR1 correlated positively in both the control (r = 0.964, p < 0.001) and the metabolic syndrome group (r = 0.600, p = 0.023). However, this relation was shifted upwards in metabolic syndrome patients, indicating increased AdipoR1mRNA expression for a similar AMPKα1 expression. Previously, a blunted stimulatory effect of adiponectin on AMPK activation has been shown in metabolic syndrome patients. The present data suggest that the disturbed interaction of adiponectin with AMPK is located downstream of the AdipoR1 receptor. © The European Society of Cardiology 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  1. KERATODERMA BLENORRHAGICUM IN A PATIENT WITH REITER SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentina Dimitrova

    2008-10-01

    Full Text Available Reiter syndrome is a systemic disorder, originally defined as a triad of arthritis, urethritis and conjunctivitis. This symptoms complex usually follows an episode of either urethritis or dysentery. Skin and mucosal involvement is observed in about 10% of the cases. We present a case of Reiter’s syndrome in a 55-year-old man who developed the typical skin lesions - kerathoderma blenorrhagicum. The disease started with a severe asymmetric oligoarthritis a month after the patient had urethritis. Two weeks after the onset of the arthritis red patches on the palms and plants appeared, which transformed quickly in harder and elevated plaques.

  2. [Anesthesia for a pediatric patient with Coffin-Siris syndrome].

    Science.gov (United States)

    Shirakami, Gotaro; Tazuke-Nishimura, Misako; Hirakata, Hideo; Fukuda, Kazuhiko

    2005-01-01

    A 3-year-old boy with Coffin-Siris syndrome was scheduled to undergo diagnostic laparoscopy, inguinal herniorrhaphy and orchiopexy at an ambulatory setting and same-day admission. Following anesthesia induction with inhalational sevoflurane, upper airway obstruction and hypoxemia developed. Hypoxemia was resolved immediately by manual positive pressure ventilation, although the stomach became bulged. Operation was finished uneventfully. However, he had massive bronchial secretion during anesthesia. He was admitted as planned and discharged on postoperative day 2. Since patients with Coffin-Siris syndrome have potential airway and pulmonary dysfunctions, careful perianesthesia airway and respiratory managements are essential.

  3. Spontaneous intracranial hypotension syndrome: magnetic resonance findings in two patients

    International Nuclear Information System (INIS)

    Ortega, R.; Pastor, J.; Escamilla, F.; Romero, M. I.

    1999-01-01

    The postural headache syndrome associated with a decrease in the cerebrospinal fluid (CSF) pressure is generally secondary to the CSF leakage that usually occurs after diagnostic lumbar puncture. Spontaneous intracranial hypotension can not be attributed to any known cause or previous diagnostic or therapeutic intervention. The syndrome is characterized by severe headache that is relieved by lying supine. During lumbar puncture, the CSF pressure is normally low. We present two patients in whom gadolinium-enhanced magnetic resonance imaging showed widespread thickening and enhancement of the dura mater and subdural fluid collections. (Author) 13 refs

  4. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

    Science.gov (United States)

    Tüysüz, Beyhan; Collin, Anna; Arapoğlu, Müjde; Suyugül, Nezir

    2009-10-01

    Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

  5. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Carolina V.A. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Donnelly, Lane F. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Shott, Sally R. [Medical Center, Division of Otolaryngology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Amin, Raouf S.; Kalra, Maninder [Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States)

    2008-10-15

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm{sup 2}) than in the control patients (2,767 mm{sup 2}; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  6. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    International Nuclear Information System (INIS)

    Guimaraes, Carolina V.A.; Donnelly, Lane F.; Shott, Sally R.; Amin, Raouf S.; Kalra, Maninder

    2008-01-01

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm 2 ) than in the control patients (2,767 mm 2 ; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  7. Phase analysis in patients with Wolff-Parkinson-White syndrome

    International Nuclear Information System (INIS)

    Nakajima, Kenichi; Bunko, Hisashi; Tada, Akira; Taki, Junichi; Tonami, Norihisa

    1983-01-01

    Twenty-five patients with Wolff-Parkinson-White (WPW) syndrome who underwent surgical division of the accessory conduction pathway (ACP) were studied by gated blood pool studies and phase analyses. All of 11 patients with right cardiac type (R-type) had abnormal initial phase in the right ventricle (RV), while 10 out of 14 patients with left cardiac type (L-type) had initial phase in the left ventricle (LV). However, in 4 L-type patients, there were no significant differences in the initiation of both ventricular contractions. In 10 patients who had radionuclide studies before and after surgical division of the ACP, the ventricular contraction patterns were apparently changed and the abnormal wall motions induced by the presence of ACPs disappeared. These observations indicate that the abnormal initial contraction is associated with pre-excitation of WPW syndrome. Sensitivities to identify the side of preexcitation were 100% (11/11) for R-type and 71% (10/14) for L-type. However, regarding the detection of the precise site of ACP, the agreement was 48% (12/25). Therefore, as a method of preoperative study, it seemed difficult to identify the precise localization of the ACP by phase analysis alone. Phase analysis provided interesting informations and was useful for evaluating patients with WPW syndrome before and after surgery. (author)

  8. Anaplerosis in Complex Treatment of Patients with Diabetic Foot Syndrome

    Directory of Open Access Journals (Sweden)

    B.G. Bezrodny

    2015-05-01

    Full Text Available The article describes the improvement of anaplerosis in patients with diabetic foot syndrome using skin flaps on vascular pedicle of the perforating vessels. The study involved patients with type 2 diabetes mellitus complicated with diabetic foot syndrome of neuroischemic form and chronic wounds of the lower extremities that do not heal for more than 21 days from the date of occurrence. The wounds were cleaned with ultrasonic cavitation. There was applied bandage with sorption antibacterial remedy base on nanodispersed silicon dioxide. There was applied a drainage vacuum bandage on a wound on the third day (VAC therapy. The flap is forming fitting to the size and configuration of a wound on a foot. Fourteen patients (93 % in the basic group were found to have survived flaps. Long-term follow up in 6 months demonstrated full maintenance of supporting function and good survived skin graft, absence of foot ulcers. In a control group 7 patients had recurrent foot ulcer. Improved techniques of autodermoplasty in patients with diabetic foot syndrome include glycemia control, preparation of a wound using vacuum apparatus bandage. Usage of split-skin graft combined with vacuum apparatus bandage allows close acute and chronic wounds effectively, maintain supporting function of an extremity, decrease in-hospital staying, and improve quality of patient’s life. Adequate foot wound closure prevents high-level amputation of low extremities in diabetic patients.

  9. Relationship between two blood stasis syndromes and inflammatory factors in patients with acute coronary syndrome.

    Science.gov (United States)

    Ma, Cai-Yun; Liu, Jing-Hua; Liu, Jian-Xun; Shi, Da-Zhuo; Xu, Zhen-Ye; Wang, Shao-Ping; Jia, Min; Zhao, Fu-Hai; Jiang, Yue-Rong; Ma, Qin; Peng, Hong-Yu; Lu, Yuan; Zheng, Ze; Ren, Feng-Xue

    2017-11-01

    To investigate the relationship between inflammatory factors and two Chinese medicine (CM) syndrome types of qi stagnation and blood stasis (QSBS) and qi deficiency and blood stasis (QDBS) in patients with acute coronary syndrome (ACS). Sixty subjects with ACS, whose pathogenesis changes belongs to qi disturbance blood stasis syndrome, were divided into 2 groups: 30 in the QSBS group and 30 in the QDBS group. The comparative analysis on them was carried out through comparing general information, coronary angiography and inflammatory factors including intracellular adhesion molecule-1 (ICAM-1), chitinase-3-like protein 1 (YKL-40) and lipoprotein-associated phospholipase A2 (Lp-PLA2). Compared with the QSBS group, Lp-PLA2 and YKL-40 levels in the QDBS group showed no-significant difference (P>0.05); ICAM-1 was significantly higher in the QDBS group than in the QSBS group in the pathological processes of qi disturbance and blood stasis syndrome of ACS (Psyndrome typing of QSBS and QDBS, which provides a research direction for standardization research of CM syndrome types.

  10. Analysis of Th17-associated cytokines in tears of patients with dry eye syndrome.

    Science.gov (United States)

    Tan, X; Sun, S; Liu, Y; Zhu, T; Wang, K; Ren, T; Wu, Z; Xu, H; Zhu, L

    2014-05-01

    To determine the levels of Th17-associated cytokines, particularly interleukin (IL)-17 and IL-22 in tears of patients with dry eye syndrome. Tear samples were collected from 20 healthy volunteers, 20 dry eye (DE) patients with non-Sjögren's syndrome (NSSDE) and 20 DE patients with Sjögren's syndrome (SSDE). Symptom questionnaire was self-administered and multiple dry eye disease (DED)-related clinical tests were performed. The levels of IL-17 and IL-22 in tears were measured by enzyme-linked immunosorbent assay. The levels of IL-17 and IL-22 were significantly increased in tears of DE patients compared with those of controls and also higher in SSDE patients compared with those of NSSDE patients (Ptear film break-up time and Schirmer I test in both NSSDE and SSDE patients (Ptears were significantly increased in DE patients, which were associated with the disease severity. Therefore, Th17 cell-associated cytokines, particularly IL-17 and IL-22, may have important roles in the immunopathogenesis of the DED.

  11. Relationship between fear avoidance beliefs and burnout syndrome in patients with lumbar disc herniation.

    Science.gov (United States)

    Taspinar, Ferruh; Taspinar, Betul; Ozkan, Yasemin; Afsar, Emrah; Gul, Canan; Durmaz, Elif Dilara

    2016-06-17

    Lumbar disc herniation leads to disability by restricting of patients' lives and reducing their quality of life. This situation causes a decrease in motivation of patients by triggering depressive mood. Therefore, the aim of the study was investigation of correlation between fear avoidance beliefs and burnout syndrome in patients with lumbar disc herniation. Totally forty-seven patients (24 male and 23 female patients) diagnosed lumbar disc herniation was included in this study. Maslach II Burnout Inventory (MBI) and Fear Avoidance Beliefs Questionnaire (FABQ) for determining of levels of burnout and fear avoidance level were used, respectively. It was observed that MBI and FABQ scores of the patients were 50.78 ± 10.07 and 36.61 ± 13.91, respectively. Moderate level correlation was found between FABQ and MBI total scores (r= 0.49, p= 0.00). Fear avoidance beliefs of patients with chronic back pain can affect level of burnout syndrome. Therefore, symptoms of burnout syndrome and fear avoidance beliefs of patients should be considered in evaluation and treatment process.

  12. FEATURES OF THE CHRONIC PAIN SYNDROME IN PATIENTS WITH RHEUMATOID ARTHRITIS AND MEDICAL DIAGNOSTIC TACTICS

    Directory of Open Access Journals (Sweden)

    M. A. Gromova

    2016-01-01

    Full Text Available Objective: to establish features of a chronic pain syndrome disorders in patients with rheumatoid arthritis, to reveal correlation with psychoemotional disorders and to develop the differential approach to maintaining patients. Materials and methods. 101 patients at the age of 60.6 ± 11.8 years, 92 % of women, with reliable rheumatoid arthritis (American College of Rheumatology – ACR, 1987, were examined. The visual analog scale was used for an assessment of pain strength at the moment; the Van Korff’s questionnaire – for determination of pain strength at the moment and retrospectively for the last half a year with an assessment of disadaptation level and disability, ranging of a chronic pain syndrome on classes; the McGill Pain Questionnaire – for the characteristic of touchsensitive and emotional components of pain. Neuropathic pain was revealed by DN4 questionnaire. Anxiety and depression were determined by the Hospital Anxiety and Depression Scale (HADS. Fibromyalgia diagnosed by criteria of ACR, (1990. Results. Pain estimated by various scales and questionnaires varied from moderated to intensive. According to Van Korff’s questionnaire it was characterized by average level of disadaptation and easy disability that corresponded to the second class of chronic pain. The Rank pain index of the McGill Pain Questionnaire touch scale testified that pain was described by a smaller number of definitions on a touch scale than on emotional. This indicates a moderate impact of pain syndrome on a state of mind. Neuropathic pain is diagnosed for 37.3 % of patients with tunnel syndrome, mononeuritis and touch polyneuropathy. The secondary fibromyalgia is revealed for 2 % of patients with early rheumatoid arthritis of high activity. According to HADS anxiety and depression was revealed for 58 and 59 % of patients correspondingly. This demanded psychotherapeutic consultation and additional correction. We proposed the algorithm of diagnostic and

  13. Ultrastructural pathology of aortic dissections in patients with Marfan syndrome: Comparison with dissections in patients without Marfan syndrome

    NARCIS (Netherlands)

    Dingemans, Koert P.; Teeling, Peter; van der Wal, Allard C.; Becker, Anton E.

    2006-01-01

    Despite the discovery in 1990 that mutations in the fibrillin-1 gene cause the Marfan syndrome, the pathogenesis of the life-threatening dissections associated with this disease is far from elucidated. Both the massive number of known fibrillin-1 mutations that result in a heterogeneous patient

  14. Taxane-induced morphea in a patient with CREST syndrome

    Directory of Open Access Journals (Sweden)

    Susan Michele Bouchard

    2010-07-01

    Full Text Available The taxanes, docetaxel and paclitaxel, are microtubule stabilizing chemotherapeutic agents that have demonstrated antineoplastic effects in a variety of solid tumors. They have been linked to the development of localized cutaneous sclerosis in some patients. We present a case of docetaxel-induced cutaneous sclerosis of the lower extremities in a patient with pre-existing CREST syndrome. We propose that patients with a history of limited or diffuse systemic sclerosis should be given taxane chemotherapy with caution, as these patients may have an immunological predisposition for the development of drug-induced morphea.

  15. Genetic heterogeneity in patients with Bartter syndrome type 1.

    Science.gov (United States)

    Sun, Mingran; Ning, Jing; Xu, Weihong; Zhang, Han; Zhao, Kaishu; Li, Wenfu; Li, Guiying; Li, Shibo

    2017-02-01

    Bartter syndrome (BS) type 1 is an autosomal recessive kidney disorder caused by loss‑of‑function mutations in the solute carrier family 12 member 1 (SLC12A1) gene. To date, 72 BS type 1 patients harboring SLC12A1 mutations have been documented. Of these 144 alleles studied, 68 different disease‑causing mutations have been detected in 129 alleles, and no mutation was detected in the remaining 15 alleles. The mutation types included missense/nonsense mutations, splicing mutations and small insertions and deletions ranging from 1 to 4 nucleotides. A large deletion encompassing a whole exon in the SLC12A1 gene has not yet been reported. The current study initially identified an undocumented homozygous frameshift mutation (c.1833delT) by Sanger sequencing analysis of a single infant with BS type 1. However, in a subsequent analysis, the mutation was detected only in the father's DNA. Upon further investigation using a next‑generation sequencing approach, a deletion in exons 14 and 15 in both the patient and patient's mother was detected. The deletion was subsequently confirmed by use of a long‑range polymerase chain reaction and was determined to be 3.16 kb in size based on sequencing of the junction fragment. The results of the present study demonstrated that pathogenic variants of SLC12A1 are heterogeneous. Large deletions appear to serve an etiological role in BS type 1, and may be more prevalent than previously thought.

  16. Framingham risk score for estimation of 10-years of cardiovascular diseases risk in patients with metabolic syndrome.

    Science.gov (United States)

    Jahangiry, Leila; Farhangi, Mahdieh Abbasalizad; Rezaei, Fatemeh

    2017-11-13

    There are a few studies evaluating the predictive value of Framingham risk score (FRS) for cardiovascular disease (CVD) risk assessment in patients with metabolic syndrome in Iran. Because of the emerging high prevalence of CVD among Iranian population, it is important to predict its risk among populations with potential predictive tools. Therefore, the aim of the current study is to evaluate the FRS and its determinants in patients with metabolic syndrome. In the current cross-sectional study, 160 patients with metabolic syndrome diagnosed according to the National Cholesterol Education Adult Treatment Panel (ATP) III criteria were enrolled. The FRS was calculated using a computer program by a previously suggested algorithm. Totally, 77.5, 16.3, and 6.3% of patients with metabolic syndrome were at low, intermediate, and high risk of CVD according to FRS categorization. The highest prevalence of all of metabolic syndrome components were in low CVD risk according to the FRS grouping (P metabolic syndrome and different FRS categorization among patients with metabolic syndrome were identified. High SBP and FSG were associated with meaningfully increased risk of CVD compared with other parameters. The study is not a trial; the registration number is not applicable.

  17. Patient safety and nursing: interface with stress and Burnout Syndrome

    Directory of Open Access Journals (Sweden)

    Cláudia Cristiane Filgueira Martins Rodrigues

    Full Text Available ABSTRACT Objective: To analyze studies on stress, Burnout Syndrome, and patient safety in the scope of nursing care in the hospital environment. Method: This was an integrative literature review. Data collection was performed in February 2016 in the following databases: Medical Literature Analysis and Retrieval System Online - PubMed/MEDLINE, Latin American and Caribbean Literature in Health Sciences - LILACS. Results: Ten scientific productions were selected, which listed that factors contributing to stress and Burnout Syndrome of nursing professionals are the work environment as a source of stress, and excessive workload as a source of failures. Conclusion: The analysis found that the stress and Burnout Syndrome experienced by these professionals lead to greater vulnerability and development of unsafe care, and factors such as lack of organizational support can contribute to prevent these failures.

  18. BILATERAL SEROUS MACULAR DETACHMENT IN A PATIENT WITH NEPHROTIC SYNDROME.

    Science.gov (United States)

    Bilge, Ayse D; Yaylali, Sevil A; Yavuz, Sara; Simsek, İlke B

    2018-01-01

    The purpose of this study was to report a case of a woman with nephrotic syndrome who presented with blurred vision because of bilateral serous macular detachment. Case report and literature review. A 55-year-old woman with a history of essential hypertension, diabetes, and nephrotic syndrome was presented with blurred vision in both eyes. Her fluorescein angiography revealed dye leakage in the early and subretinal pooling in the late phases, and optical coherence tomography scans confirmed the presence of subretinal fluid in the subfovel area. In nephrotic syndrome cases especially with accompaniment of high blood pressure, fluid accumulation in the retina layer may occur. Serous macular detachment must be kept in mind when treating these patients.

  19. TEMPOROMANDIBULAR PAIN DYSFUNCTION SYNDROME IN PATIENTS ATTENDING LAGOS UNIVERSITY TEACHING HOSPITAL, LAGOS, NIGERIA.

    Science.gov (United States)

    Eweka, O M; Ogundana, O M; Agbelusi, G A

    2016-01-01

    Temporomandibular joint pain dysfunction syndrome (TMJPDS) is the most common temporomandibular disorder. This condition presents with symptoms of pain, restricted jaw movement and joint noise. Other symptoms include otalgia, headache, neck pain and trismus. To determine the pattern of Temporomandibular joint pain dysfunction syndrome patients managed at the Lagos University Teaching Hospital, Lagos, Nigeria. A descriptive study of patients with signs and symptoms of Temporomandibular joint pain dysfunction syndrome attending the Oral Medicine Clinic of Lagos University Teaching Hospital. Twenty-one patients with Temporomandibular joint pain dysfunction syndrome were enrolled into the study, out of which 10(48%) were females and 11(52%) were males. The age range was 23-81years with a mean of 45.2 ± 18.9 years. Majority of the patients 20(95.2%) complained of pain around the joint, in the pre-auricular region, in the muscles of mastication and the ear. While 7(35%) complained of clicking sounds, 10(47.6%) complained of pain on mouth opening and during mastication only. In all 5(23.8%) had impaired movement of the jaws, mouth opening was normal in 18(85.7%) but reduced in 3(14.3%) patients. Over half of patients 12(57%) experienced clicking sounds, there was tenderness around the temporomandibular joint in 16(76.2%) cases, pain in the ear of 7(33.3%) patients and 13(61.9%) people presented with tenderness of the muscles of mastication. Conservative management of all the cases resulted in resolution of the symptoms. Temporomandibular joint pain dysfunction syndrome has diverse clinical presentation and though distressing, it responds to prompt and effective conservative management.

  20. [Effect of Qingre Yangyin Recipe on Endocrine and Metabolism of Polycystic Ovary Syndrome Patients].

    Science.gov (United States)

    Zhang, Ting

    2015-10-01

    To observe the effect of Qingre Yangyin Recipe (QRYYR) on sex hormones and insulin resistance (IR) in polycystic ovary syndrome (PCOS) patients. Totally 90 PCOS patients were randomly assigned to the Chinese herbs group,the Western medicine group, the combined group, 30 in each group. Patients in the Chinese herbs group took QRYYR, one dose per day in two portions, once in the morning and once in the evening. Patients in the Western medicine group took Metformin 500 mg, twice per day for 3 consecutive months. Patients in the combined group took QRYYR and Metformin (the same as the former said two groups) in the 1st month, and took QRYYR for the following two months. Fasting blood glucose (FPG) and postprandial 2 h blood glucose (2 h GLU) were determined using hexokinase method before and after treatment. Fasting insulin (FINS), postprandial 2 h insulin (2 h INS), luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E2), progesterone (P), prolactin (PRL), and testosterone (T) were detected using chemiluminescent method. Leptin and adiponectin (APN) were determined using ELISA. Homeostasis model assessment of insulin resistance (HOMA-IR) was calculated. Body weight and height were measured once before treatment and once after treatment to calculate body mass index (BMI). The total two-phase basal body temperature (BBT) actually obtained within 3 months was statistically collected to calculate the two-phase BBT rate. Scores for Chinese medical syndromes were compared between the two groups before and after treatment. Compared with before treatment in the same group, BMI, FINS, 2 h INS, HOMA-IR, leptin, LH, PRL, T, and scores for Chinese medical syndromes obviously decreased, and APN levels increased (P medical syndromes was more in the Western medicine group and the combined group (P medical syndromes, with superior effect to that of Metformin. The effect in the combined group was better.

  1. Evaluation of conjunctival bacterial flora in patients with Stevens-Johnson Syndrome

    Directory of Open Access Journals (Sweden)

    Luciana Frizon

    2014-03-01

    Full Text Available OBJECTIVE: To determine the conjunctival bacterial flora present in patients with Stevens-Johnson syndrome. METHODS: A prospective study of the conjunctival bacterial flora was performed in 41 eyes of 22 patients with Stevens-Johnson syndrome. The information gathered included the patient's sex and age, the duration of disease, the cause of Stevens-Johnson syndrome, and treatments. Scrapings of the inferior conjunctival fornix were performed in both eyes. Fourteen days before scraping, the patients were asked to interrupt all topical medication and start using 0.5% nonpreserved methylcellulose. The microbiological evaluation included microorganism identification and determination of antibiotic sensitivity. RESULTS: Of 22 patients (41 eyes, 14 (64% were females, and eight (36% were males. The mean age was 33.2 years, and the mean duration of disease was 15.6 years. Visual acuity ranged from light perception to 20/25 (1.57 logMar. The treatment received by most patients consisted of tear substitutes, topical antibiotics, and contact lenses. Bacterial identification was positive in 39 eyes (95% and negative in two eyes (5%. Gram-positive cocci accounted for 55.5% of the microorganisms, whereas gram-positive bacilli and gram-negative bacilli accounted for 19% and 25.5%, respectively. Half of the patients (54% had multiple bacterial species in their flora, and only one bacterial species was identified in the other half. Resistant bacteria were isolated from four eyes. The antibiotic sensitivity results for the Streptococcus group showed the lowest sensitivity and the highest microbial resistance identified. CONCLUSION: Patients with Stevens-Johnson syndrome have a diverse conjunctival flora that includes many pathogenic species.

  2. Cellulitis as complication of nephrotic syndrome in a pediatric patient

    Science.gov (United States)

    Siregar, R. S.; Daulay, K. R.; Siregar, B.; Ramayani, O. R.; Eyanoer, P. C.

    2018-03-01

    Nephrotic syndrome is a chronic disease that may act as a risk for other major infection in skin, respiratory and urinary tract, while also increasingthe chance for other diseases, like peritonitis, meningitis, and cellulitis. Cellulitis is often caused by Streptococcus β-hemolytic, Staphylococcus aureus, and Escherichia coli. The clinical features of cellulitis marked with redness rash and well-defined borders, pain pressure and swelling. Hypoalbuminemia which occurs due to proteinuria occurred in this patient acts as a risk factor for cellulitis. It has been reported the case of cellulitis as one of the complications of the nephrotic syndrome in the pediatric patient. The treatment has been given to the patient such as antibiotics and supportive therapy and also planned albumin substitution.

  3. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    Science.gov (United States)

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  4. Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

    Directory of Open Access Journals (Sweden)

    Luís C. L. Correia

    2000-06-01

    Full Text Available OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6 in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months, the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8 in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9. CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

  5. Clinical characteristics of three patients with UV{sup s} syndrome, a photosensitive disorder with defective DNA repair

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T. [Kumamoto Univ. (Japan). School of Medicine; Ichihashi, M. [Kobe Univ. (Japan). School of Medicine

    1996-06-01

    Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients` fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author).

  6. Posterior reversible encephalopathy syndrome in patient

    African Journals Online (AJOL)

    abp

    2015-05-26

    neuroradiologic condition, not commonly reported in the literature. PRES is an uncommon complication of severe preeclampsia/eclampsia. We report the management of one patient with postpartum preeclampsia as an.

  7. Implantation of cultured thymic fragments in patients with acquired immunodeficiency syndrome

    NARCIS (Netherlands)

    Danner, S. A.; Schuurman, H. J.; Lange, J. M.; Gmelig Meyling, F. H.; Schellekens, P. T.; Huber, J.; Kater, L.

    1986-01-01

    Cultured thymic fragments were implanted in one patient with acquired immunodeficiency syndrome (AIDS)-related complex (ARC) and in eight AIDS patients with opportunistic infections (OIs, four patients), Kaposi's sarcoma (KS, two patients), or both (two patients). Thereafter, objective clinical

  8. 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

  9. Cochlear implantation in patient with Dandy-walker syndrome.

    Science.gov (United States)

    de Oliveira, Adriana Kosma Pires; Hamerschmidt, Rogerio; Mocelin, Marcos; Rezende, Rodrigo K

    2012-07-01

     Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment.  To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation.  CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  10. Cochlear implantation in patient with Dandy-walker syndrome

    Directory of Open Access Journals (Sweden)

    Oliveira, Adriana Kosma Pires de

    2012-01-01

    Full Text Available Introduction: Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. Objectives: To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation. Case Report: CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  11. Polycystic Ovary Syndrome : Genetic determinants of the phenotype

    NARCIS (Netherlands)

    O. Valkenburg (Olivier)

    2015-01-01

    markdownabstract__Abstract__ The polycystic ovary syndrome (PCOS) was first described in 1935 by Stein and Leventhal as an association of amenorrhoea, obesity and a typical, polycystically enlarged, appearance of the ovaries at laparatomy1. Taking into account the absence of advanced

  12. Marfan syndrome. Part 2: treatment and management of patients.

    Science.gov (United States)

    Cañadas, Victoria; Vilacosta, Isidre; Bruna, Isidoro; Fuster, Valentin

    2010-05-01

    Aortic disease is the main cause of death among patients with Marfan syndrome. Before the development of open surgery, most patients died in the fourth decade of life. Improvements in surgical techniques have facilitated prophylactic surgery and have dramatically changed the life expectancy of patients with Marfan syndrome. Valve-sparing techniques are becoming the standard surgical treatment for these patients, since the operative and long-term results are comparable with those obtained with the Bentall and De Bono procedure and their theoretical advantages over the Bentall and De Bono procedure are attractive for young patients. Distal aortic complications still cause substantial morbidity in patients who have undergone surgery. On the other hand, several medical approaches have appeared as alternatives or adjuncts to the standard treatment with beta-blockers. Mouse models of the disease have shown that the angiotensin II receptor blocker losartan can rescue the phenotype. Among female patients, pregnancy deserves special consideration. Aortic dissection occurs mainly in the third trimester of gestation and in patients with dilated aortas. As aortic dissection carries a high risk of maternal mortality and fetal demise, prophylactic aortic surgery is recommended before attempting pregnancy for those women with an aortic diameter exceeding 40 mm.

  13. Joubert syndrome: Clinical and radiological characteristics of nine patients

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    Ahmed Farag Elhassanien

    2013-01-01

    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  14. Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

    Science.gov (United States)

    Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

    2017-01-01

    Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

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

    Directory of Open Access Journals (Sweden)

    Verdon François

    2007-09-01

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

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

    Science.gov (United States)

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

    2007-09-12

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

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

    Science.gov (United States)

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

    2007-01-01

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

  18. Rare successful pregnancy in a patient with Swyer Syndrome.

    Science.gov (United States)

    Taneja, Jyoti; Ogutu, David; Ah-Moye, Michael

    2016-10-01

    To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Case report. Herts & Essex Fertility Centre, Cheshunt, UK. A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICSI using donor eggs, Embryo Transfer, and Caesarean delivery. Successful pregnancy and live birth. Successful treatment with donor eggs, pregnancy, and delivery. A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery.

  19. A patient with WPW syndrome and coronary artery disease

    International Nuclear Information System (INIS)

    Zarebinski, M.; Krupienicz, A.; Marciniak, W.; Ostrowski, M.

    1993-01-01

    A 61-year-old patient with Wolff-Parkinson-White's syndrome, and hypertension was admitted to the CCU, because of the first episode of substernal chest pain. ECG was deformed by Wolff-Parkinson-White's syndrome, type B, with accessory pathway located on the right side, without evolution. Serum enzymes remained low. Echocardiography showed akinesis of the posterior wall and hypokinesis of the lateral wall (the same contraction disorders were described in previous echocardiographical examination 5 years ago), it was observed that the first portion of myocardium to contract was the base of the right ventricle. To elucidate the etiology of the contraction disorders, scintigraphy of the heart, using thallium 201, was performed, showing normal perfusion of the myocardium. To illustrate the dependence of the contraction disorders and abnormal depolarization pattern of the heart, echocardiographical examination was repeated, confirming the previous results, then 100 mg of Ajmaline was given to the patient intravenously, and echocardiographical examination was continued. Administration of the drug caused antidromic atrioventricular re-entrant tachycardia during which the lateral wall of the heart had been contracting properly. This case shows contraction disorders of the heart caused by the abnormal depolarization pattern, resulting from the presence of accessory pathway. It also illustrates the diagnostic difficulties in patients with Wolff-Parkinson-White's syndrome and suspected myocardial infarction, at the same time showing that scintigraphy of the heart might be very helpful in such patients. This case confirms the usefulness of echocardiography for localization of the accessory pathway. (author)

  20. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    Directory of Open Access Journals (Sweden)

    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  1. Pituitary size in patients with Laron syndrome (primary GH insensitivity).

    Science.gov (United States)

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

    2003-03-01

    The purpose of the present study was to investigate whether lifelong secretion of high levels of GH, characteristic of Laron syndrome, leads to an increase in the size of the pituitary gland. Eleven patients (six females, five males) with Laron syndrome underwent magnetic resonance imaging of the pituitary region with a system operating at 0.5 T. There were nine adults aged 36-68 Years and two children, a 4-Year-old boy and a 9-Year-old girl. The latter patient had been treated with IGF-I (150-180 mg/kg per day) since the age of 3 Years; all the other patients were untreated. The height of the adenohypophysis was measured on the sagittal images and compared with reference values for age and sex. The height of the adenohypophysis was within the normal range for age and gender in all patients, except for one male, who had a small gland. No congenital anomalies of the pituitary-hypothalamic region were detected. Despite the lifelong high levels of GH, no pituitary hypertrophy was detected. The anatomy of the pituitary-hypothalamic region in Laron syndrome is normal.

  2. Psychological Signs in Patients with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Farideh Zafari-Zangeneh

    2012-11-01

    Full Text Available Objective: PCOS is a multifaceted disorder with multiple potential risk factors (e.g. infertility, diabetes,cardiovascular disease and metabolic syndrome. PCOS affects quality of life and can worsen anxietyand depression either due to the features of PCOS or due to the diagnosis of a chronic disease. Thisstudy aimed to determine the risk factors of PCOS in a group of patients.Materials and methods: In this descriptive-analytic study, 81 patients with PCOS were studied in Vali-e-Asr Reproductive Health Research Center, Tehran, Iran. A questionnaire with items related to stressinformation was used for data collection. Stress symptoms were assessed using the UnderstandingYourself standard questionnaire. Statistical analyses were performed using SPSS 13.0 (SPSS Inc.,Chicago, ILL, USA. Data are presented as mean ± SD or as frequency with percentages. P-value lessthan 0.05 were considered as statistically significant.Results: The evaluation of psychological signs in 81 PCO patients and descriptive results showed that 8(9.9% had not any stress problem, 32 (39.5% had neurotic stress, 29 (35.8% had high level and 12(14.8% had extremely high level of stress. The age range of 26 years and more (P=0.023, touchypersonality (P = 0.028 and acne (P = 0.015 related with high stress level. The odds of high level ofanxiety in women with hirsutism was 3.1 (95%CI 1.00 to 9.59. The odds of high level of obsession inoverweight patients was 3.2 (95%CI 1.12 to 9.234. The odds of high level of worrisome in patients withtouchy personality was 3.4 (95%CI 1.10 to 11.19. Obsession score had a correlation with illnessduration (r = -0.268, P = 0.038.Conclusion: These data showed that clinical signs of PCOS are the most closely associated withpsychological distress and this has important implications for the diagnosis and treatment of disorders.

  3. Mitral valve disease in patients with Marfan syndrome undergoing aortic root replacement.

    Science.gov (United States)

    Kunkala, Meghana R; Schaff, Hartzell V; Li, Zhuo; Volguina, Irina; Dietz, Harry C; LeMaire, Scott A; Coselli, Joseph S; Connolly, Heidi

    2013-09-10

    Cardiac manifestations of Marfan syndrome include aortic root dilation and mitral valve prolapse (MVP). Only scant data exist describing MVP in patients with Marfan syndrome undergoing aortic root replacement. We retrospectively analyzed data from 166 MFS patients with MVP who were enrolled in a prospective multicenter registry of patients who underwent aortic root aneurysm repair. Of these 166 patients, 9% had mitral regurgitation (MR) grade >2, and 10% had MR grade 2. The severity of MVP and MR was evaluated by echocardiography preoperatively and ≤ 3 years postoperatively. Forty-one patients (25%) underwent composite graft aortic valve replacement, and 125 patients (75%) underwent aortic valve-sparing procedures; both groups had similar prevalences of MR grade >2 (P=0.7). Thirty-three patients (20%) underwent concomitant mitral valve (MV) intervention (repair, n=29; replacement, n=4), including all 15 patients with MR grade >2. Only 1 patient required MV reintervention during follow-up (mean clinical follow-up, 31 ± 10 months). Echocardiography performed 21 ± 13 months postoperatively revealed MR >2 in only 3 patients (2%). One early death and 2 late deaths occurred. Although the majority of patients with Marfan syndrome who undergo elective aortic root replacement have MVP, only 20% have concomitant MV procedures. These concomitant procedures do not seem to increase operative risk. In patients with MR grade ≤ 2 who do not undergo a concomitant MV procedure, the short-term incidence of progressive MR is low; however, more follow-up is needed to determine whether patients with MVP and MR grade ≤ 2 would benefit from prophylactic MV intervention.

  4. Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

    International Nuclear Information System (INIS)

    Heras, J.G.; Coco, R.

    1986-01-01

    Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the 'in vitro' X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.)

  5. Surgical abdomen in patients with nephrotic syndrome: complexities of differential diagnostics. 2 case reports

    OpenAIRE

    Nogaibayeva, A.; Moldakhmetova, S.; Tuganbekova, S.; Krivoruchko, N.

    2014-01-01

    INTROduCTIONANdAIMS: Differential-diagnostic search is very important at the stage of abdominal nephrotic crisis for determination of therapy tactics; as the probability of development of acute surgical pathology is very high, due to connection of infectious complications on a background of the basic pathology and immunosupression. We report 2 patients with acute onset of abdominal pain on a background of severe nephrotic syndrome (NS). METHOdS: Case 1: 20-years old man with bioptic diagnosis...

  6. Thoracoabdominal aortic aneurysm repair in patients with marfan syndrome.

    Science.gov (United States)

    Mommertz, G; Sigala, F; Langer, S; Koeppel, T A; Mess, W H; Schurink, G W H; Jacobs, M J

    2008-02-01

    We assessed the surgical outcome of descending thoracic aortic aneurysm repair (DTAA) and thoracoabdominal aortic aneurym (TAAA) repair in patients with Marfan syndrome. During a six year period, 206 patients underwent DTAA and TAAA repair. In 22 patients, Marfan syndrome was confirmed. The median age was 40 years with a range between 18 and 57 years. The extend of the aneurysms included 6 DTAA (1 with total arch, 2 with distal hemi-arch), 11 type II TAAA (2 with total arch, 3 with distal hemi-arch), 4 type III and one type IV TAAA. All patients suffered from previous type A (n=6) or type B (n=16) aortic dissection and 15 already underwent aortic procedures like Bentall (n=7) and ascending aortic replacement (n=8). All patients were operated on according to the standard protocol with cerebrospinal fluid drainage, distal aortic and selective organ perfusion and monitoring motor evoked potentials. In patients undergoing simultaneous arch replacement (via left thoracotomy), transcranial Doppler and EEG assessed cerebral physiology during antegrade brain perfusion. In four patients circulatory arrest under moderate hypothermia was required. In-hospital mortality did not occur. Major postoperative complications like paraplegia, renal failure, stroke and myocardial infarction were not encountered. Mean pre-operative creatinine level was 125mmol/L, which peaked to a mean maximal level of 130 and returned to 92mmol/L at discharge. Median intubation time was 1.5 days (range 0.33-30 days). Other complications included bleeding requiring surgical intervention (n=1), arrhythmia (n=2), pneumonia (n=2) and respiratory distress syndrome (n=1). At a median follow-up of 38 months all patients were alive. Using CT surveillance, new or false aneurysms were not detected, except in one patient who developed a visceral patch aneurysm six years after open type II repair. Surgical repair of descending and thoracoabdominal aortic aneurysms provides excellent short- and mid-term results in

  7. Clinical significance of changes of serum leptin and insulin levels in patients with polycystic ovary syndrome

    International Nuclear Information System (INIS)

    Chen Zhaojun; Zhang Lahong; Gao Ying; Ren Xiaohua

    2007-01-01

    Objective: To explore the relationship between the serum leptin, insulin levels and development of polycystic ovary syndrome (PCOS). Methods: Serum leptin and insulin levels (with RIA) were determined in 34 patients with PCOS and 30 controls. Results: The serum leptin and insulin levels in the 34 PCOS patients were significantly higher than those in controls (P<0. 01), and those in obese patients (n=22) were significantly higher than those in non-obese ones (n=12) too(P<0.01). Conclusion: Changes of serum leptin and insulin levels were closely related to the development of PCOS and leptin might be used as a diagnostic indicator for PCOS. (authors)

  8. Depressive syndromes among female caregivers of schizophrenic patients in prof. dr. m. ildrem mental hospital medan

    Science.gov (United States)

    Handi, A.; Husada, M. S.; Gultom, D. P.

    2018-03-01

    Caring for schizophrenic patients can lead to emotional distress. It remains unclear about the level of depressive syndromes among female caregivers of schizophrenic patients. To determine the level of depression among female caregivers of schizophrenic patients. This is a descriptive study with a cross-sectional approach to describe the level of depression of female caregivers in Prof. dr. M. Ildrem Mental Hospital Medan, using HADS instruments. Most age group of caregivers is from age 51-60 years that is 48.15%, caregiver’s work status mostly not works (62.96%), marital status of caregiver mostly is married (59.26%), kinship with most patients are a biological mother (57.41%). Most patient age group is from age below 30 years (50%), work status of most patients is not working (81.48%), marital status of most caregiver is married (83.33%). Mostly of the depressive syndrome is mild depression (42.59%). Mostly of the depressive syndrome is from mild depression.

  9. [Pseudomeigs syndrome in a patient with Krukenberg's tumor].

    Science.gov (United States)

    Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

    2007-01-01

    We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

  10. Patient with confirmed LEOPARD syndrome developing multiple melanoma

    OpenAIRE

    Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

    2018-01-01

    LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R)...

  11. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

    OpenAIRE

    Telepova, Alena S.; Romanenko, Svetlana A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Yudkin, Dmitry V.

    2017-01-01

    Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the ce...

  12. Traditional Chinese Medicine Syndromes for Essential Hypertension: A Literature Analysis of 13,272 Patients

    Directory of Open Access Journals (Sweden)

    Jie Wang

    2014-01-01

    Full Text Available Background. To simplify traditional Chinese medicine syndrome differentiation and allow researchers to master syndrome differentiation for hypertension, this paper retrospectively studied the literature and analyzed syndrome elements corresponding to hypertension syndromes. Methods. Six databases including PubMed, EMBASE, Chinese Bio-Medical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan-fang Data were searched from 1/January/2003 to 30/October/2013. We included all clinical literature testing hypertension syndromes and retrospectively studied the hypertension literature published from 2003 to 2013. Descriptive statistics calculated frequencies and percentages. Results. 13,272 patients with essential hypertension were included. Clinical features of hypertension could be attributed to 11 kinds of syndrome factors. Among them, seven syndrome factors were excess, while four syndrome factors were deficient. Syndrome targets were mainly in the liver and related to the kidney and spleen. There were 33 combination syndromes. Frequency of single-factor syndromes was 31.77% and frequency of two-factor syndromes was 62.26%. Conclusions. Excess syndrome factors of hypertension patients include yang hyperactivity, blood stasis, phlegm turbidity, internal dampness, and internal fire. Deficient syndrome factors of hypertension patients are yin deficiency and yang deficiency. Yin deficiency with yang hyperactivity, phlegm-dampness retention, and deficiency of both yin and yang were the three most common syndromes in clinical combination.

  13. Is refeeding syndrome relevant for critically ill patients?

    Science.gov (United States)

    Koekkoek, Wilhelmina A C; Van Zanten, Arthur R H

    2018-03-01

    To summarize recent relevant studies regarding refeeding syndrome (RFS) in critically ill patients and provide recommendations for clinical practice. Recent knowledge regarding epidemiology of refeeding syndrome among critically ill patients, how to identify ICU patients at risk, and strategies to reduce the potential negative impact on outcome are discussed. RFS is a potentially fatal acute metabolic derangement that ultimately can result in marked morbidity and even mortality. These metabolic derangements in ICU patients differ from otherwise healthy patients with RFS, as there is lack of anabolism. This is because of external stressors inducing a hypercatabolic response among other reasons also reflected by persistent high glucagon despite initiation of feeding. Lack of a proper uniform definition complicates diagnosis and research of RFS. However, refeeding hypophosphatemia is commonly encountered during critical illness. The correlations between risk factors proposed by international guidelines and the occurrence of RFS in ICU patients remains unclear. Therefore, regular phosphate monitoring is recommended. Based on recent trials among critically ill patients, only treatment with supplementation of electrolytes and vitamins seems not sufficient. In addition, caloric restriction for several days and gradual increase of caloric intake over days is recommendable.

  14. Radial tunnel syndrome. Findings and treatment in 17 patients

    Directory of Open Access Journals (Sweden)

    Gustavo Alberto Breglia

    2015-05-01

    Full Text Available Backround Radial tunnel syndrome is a condition secondary to the intermittent entrapment of the posterior interosseous nerve between superficial and deep mass of short supinator adjacent structures, such as vessels and fascias. The purpose of this study was to identify the anatomical structures that produce the eventual compression, to establish and communicate the differences in the subjective pain perception before and after the release of the posterior interosseous nerve in the radial tunnel. Method Between 2009 and 2014, 17 patients underwent surgical treatment by posterior interosseous nerve release. We used the approach between the first external radial and brachioradialis. Patients were assessed by visual analogue scale for pain intensity before surgery and at week 6, and according to the Roles and Maudsley functional criteria. Results The causes of posterior interosseous nerve compression were fibrous band of short supinator (arcade of Frohse (7 cases, recurrent vessels (4 cases, compression by the mass of the superficial portion of the short supinator muscle (2 cases and secondary compression by extensor carpi radialis brevis tendon (4 cases. Results were excellent (4 patients, good (10 patients and fair (3 patients. Patients treated through the Labor Risk Insurance had worse outcomes than those who were not covered by this system. Conclusions Radial tunnel syndrome is a condition that must be taken into account when there is refractory lateral epicondylalgia. This disease has a marked effect in patients with labor conflict, which may bias the outcome of treatment.

  15. Cardiometabolic risk in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Ozegowska, Katarzyna; Pawelczyk, Leszek

    2015-11-01

    Polycystic ovary syndrome (PCOS) is a common endocrinopathy in premenopausal women, associated with risk of metabolic syndrome and cardiovascular disease (CVD). CVD risk evaluation is recommended for PCOS patients. This study aimed to evaluate the risk of CVD in PCOS patients and to identify the best predictors for metabolic and cardiovascular disturbances. The study included 169 PCOS patients and 110 healthy women in reproductive age. We estimated cardiovascular risk according to American Heart Association and Androgen Excess-PCOS Society criteria that classified patients as metabolically unhealthy (MU) or metabolically healthy (MH). The PCOS group had significantly higher body mass index (BMI), waist circumference, and waist-to-hip ratio (P PCOS patients (8.9%). No obesity was observed in the control group. Waist circumference ≥ 80 cm was presented in 44% of PCOS patients in comparison to 14.5% of control participants (P PCOS population (P PCOS-MH group had the highest high-density lipoprotein (HDL) levels. ROC curves were used to indicate parameters diagnosing metabolically unhealthy women and revealed that WC, BMI and HC seem to be the strongest predictors of metabolic disturbances in PCOS but in the healthy population in reproductive age biochemical findings such as low HDL or increased fasting glycemia presented stronger predictive value than patients' anthropometric features. Physicians need to remember to adopt different diagnostic approach while seeking metabolic complications in these different groups of women.

  16. Mediterranean diet and metabolic syndrome prevalence in type 2 diabetes patients in Ahvaz, southwest of Iran.

    Science.gov (United States)

    Veissi, Masoud; Anari, Razieh; Amani, Reza; Shahbazian, Hajieh; Latifi, Seyed Mahmoud

    2016-01-01

    Metabolic syndrome as a cardiovascular disease predictor, is proposed to be reduced by following a Mediterranean diet. This study was aimed to explore the relationships between metabolic syndrome and Mediterranean diet in type 2 diabetes mellitus patients. A cross-sectional study was performed on 158 type 2 diabetes mellitus patients 28-75 years old (mean age: 54.3±9.6 yrs). Fasting glucose and lipid profile were measured. Blood pressure and anthropometric characteristics of each participant were recorded. Food frequency questionnaires were evaluated using an 11-item score to determine the adherence to Mediterranean diet. Totally, 55.4% of participants had a good adherence to Mediterranean diet. The risk of metabolic syndrome in women was significantly higher than in men (OR=8.65, CI 95%=2.88-25.99; pMediterranean diet (p=0.167). Results demonstrated no association between Mediterranean diet adherence and metabolic syndrome in type 2 diabetes mellitus patients. However, nuts, legumes and seeds might have greater benefits for diabetics. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  17. Transcriptional changes in blood after aerobic interval training in patients with the metabolic syndrome.

    Science.gov (United States)

    Bye, Anja; Tjønna, Arnt E; Stølen, Tomas O; Røsbjørgen, Ragnhild E N; Wisløff, Ulrik

    2009-02-01

    Regular physical activity has beneficial effects on the metabolic syndrome. Eleven metabolic syndrome patients performing 16 weeks of aerobic interval training, significantly reduced their risk of cardiovascular disease, in terms of improved VO2max, endothelial function, blood pressure, insulin signaling, and plasma lipid composition. The knowledge on underlying mechanism of exercise-induced improvements is sparse, and a broad spectrum of methods is needed to gain more insight. The aim was, for the first time, to determine whether transcriptional changes occur in blood cells of metabolic syndrome patients after participating in an exercise program. Blood was collected in PAXgene and EDTA tubes before and after 16 weeks of exercise. RNA was extracted and run on microarrays. Eleven biological processes and molecular functions were upregulated after exercise, whereas seven were downregulated. Blood clotting, cell adhesion, and steroid metabolism were among the downregulated processes, whereas steroid hormone-mediated signaling was upregulated. Downregulated protein levels of arginase 1 and von Willebrand factor confirmed microarray results. Increased transcription of genes involved in steroid hormone-mediated signaling, decreased levels of arginase 1, and reduced transcription of genes involved in cell adhesion, and blood clotting are likely to be involved in exercise-induced improvements of endothelial function, and improved cardiovascular risk profile of metabolic syndrome patients. These findings have provided new insights on exercise-induced improvement of cardiovascular health.

  18. Remote clinical prognosis in patients with coronary X syndrome

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    Sebov D.M.

    2015-09-01

    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  19. Clinical profile of patients with fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    Andrei Pereira Pernambuco

    Full Text Available Abstract Introduction: The new diagnostic criteria for fibromyalgia (FM include the presence of chronic, widespread pain associated with other symptoms such as fatigue, sleep disturbance, anxiety and depression. All these symptoms should be considered when thinking and clinical decision making of physiotherapists dealing with FM. However, it is clear that the other symptoms that accompany the pain are often neglected. Objective: To measure the levels of fatigue, sleep disturbances, anxiety and depression in patients with FM and compare them to levels found in healthy controls. Methods: Forty-six women diagnosed with FM and 30 healthy controls participated in the study. The levels of each of the symptoms were assessed by four validated questionnaires in Brazil (Piper Fatigue Scale - Revised, Pittsburgh Sleep Quality Index, Beck Anxiety Inventory and the Beck Depression Inventory. Statistical analysis was performed using GraphPad Prism software and all tests used a significance level of 5% (α = 0.05. Results: FM patients had significantly elevated levels of fatigue (p = 0.0005, sleep disturbances (p = 0.003, anxiety (p = 0.0012 and depression (p = 0.0003 compared to healthy controls. Symptoms fatigue and depression correlated strongly and positively with one another and with other symptoms evaluated. Conclusion: The other symptoms that comprise the clinical picture of FM need be considered not only in order to recover the health of patients, but above all in an attempt to preserve it and promote it.

  20. Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.

    Science.gov (United States)

    Galvez-Ruiz, Alberto

    2015-01-01

    Dominant optic atrophy (DOA) and Wolfram syndrome share a great deal of clinical variability, including an association with hearing loss and the presence of optic atrophy at similar ages. The objective of this paper was to discuss the phenotypic variability of these syndromes with respect to the presentation of two clinical cases. We present two patients, each with either DOA or Wolfram syndrome, and contribute to the research literature through our findings of two novel mutations. The overlapping of several clinical characteristics in hereditary optic neuropathies can complicate the differential diagnosis. Future studies are needed to better determine the genotype-phenotype correlation for these diseases.

  1. [Cochlear implantation in patients with Waardenburg syndrome type II].

    Science.gov (United States)

    Wan, Liangcai; Guo, Menghe; Chen, Shuaijun; Liu, Shuangriu; Chen, Hao; Gong, Jian

    2010-05-01

    To describe the multi-channel cochlear implantation in patients with Waardenburg syndrome including surgeries, pre and postoperative hearing assessments as well as outcomes of speech recognition. Multi-channel cochlear implantation surgeries have been performed in 12 cases with Waardenburg syndrome type II in our department from 2000 to 2008. All the patients received multi-channel cochlear implantation through transmastoid facial recess approach. The postoperative outcomes of 12 cases were compared with 12 cases with no inner ear malformation as a control group. The electrodes were totally inserted into the cochlear successfully, there was no facial paralysis and cerebrospinal fluid leakage occurred after operation. The hearing threshold in this series were similar to that of the normal cochlear implantation. After more than half a year of speech rehabilitation, the abilities of speech discrimination and spoken language of all the patients were improved compared with that of preoperation. Multi-channel cochlear implantation could be performed in the cases with Waardenburg syndrome, preoperative hearing and images assessments should be done.

  2. Effects of canrenone in patients with metabolic syndrome.

    Science.gov (United States)

    Derosa, Giuseppe; Bonaventura, Aldo; Bianchi, Lucio; Romano, Davide; D'Angelo, Angela; Fogari, Elena; Maffioli, Pamela

    2013-11-01

    Metabolic syndrome is becoming a common disease due to a rise in obesity rates among adults. The aim was to evaluate the effects of canrenone compared to placebo on metabolic and inflammatory parameters in patients affected by metabolic syndrome. A total of 145 patients were treated with placebo or canrenone, 50 mg/day, for 3 months and then 50 mg b.i.d. till the end of the study. Blood pressure, body weight, body mass index, fasting plasma glucose (FPG), fasting plasma insulin, HOMA-IR, lipid profile, plasma aldosterone, brain natriuretic peptide, high-sensitivity C-reactive protein (Hs-CRP), tumor necrosis factor-α (TNF-α) and M value were evaluated. A decrease of blood pressure was observed in canrenone group compared to baseline; moreover, systolic blood pressure value recorded after 6 months of canrenone therapy was lower than the one recorded with placebo. Canrenone gave a significant decrease of FPI and HOMA index, and an increase of M value both compared to baseline and to placebo. Canrenone also decreased triglycerides and FPG was not observed with placebo. Canrenone also decreased plasma aldosterone, Hs-CRP and TNF-α compared to baseline and to placebo. Canrenone seems to be effective in reducing some factors involved in metabolic syndrome and in improving insulin-resistance and the inflammatory state observed in these patients.

  3. The characteristics of the patients with Rett syndrome: Case series

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    Dutina Aleksandra

    2016-01-01

    Full Text Available Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011, weight-for-age (r=-0.433 p=0.019 and BMI-for-age (r=-0.433 p=0.019. The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age. The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.

  4. Colorectal choriocarcinoma in a patient with probable Lynch syndrome

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    Viktor Hendrik Koelzer

    2016-11-01

    Full Text Available Background: Personalized therapy of colorectal cancer (CRC is influenced by morphological, molecular and host-related factors. Here we report the comprehensive clinicopathological and molecular analysis of a pure extra-gestational colorectal choriocarcinoma in a patient with probable Lynch syndrome.Case presentation: A 61 year old female with history of gastric cancer at age 36 presented with a transmurally invasive tumor of the right hemicolon and liver metastasis. A right hemicolectomy was performed. Histopathological analysis showed a mixed trophoblastic and syncytiotrophoblastic differentiation, consistent with choriocarcinoma. Disease progression was rapid under oxaliplatin, capecitabine, irinotecan (XELOXIRI and bevacizumab. Molecular phenotyping identified loss of the mismatch-repair (MMR protein PMS2, microsatellite instability, a lack of MLH1 promoter methylation and lack of of BRAF mutation suggestive of Lynch-Syndrome. Targeted next generation sequencing revealed an Ataxia Telangiectasia Mutated (ATM p.P604S missense mutation. A bleomycin, etoposide and cisplatin (BEP treatment protocol targeting germ-cell neoplasia lead to disease remission and prolonged survival of 34 months.Conclusions: Comprehensive immunohistochemical and genetic testing is essential to identify uncommon cancers possibly related to Lynch syndrome. For rare tumors, personalized therapeutic approaches should take both molecular and morphological information into account.Key words: Colorectal cancer, choriocarcinoma, histopathology, prognostic factors, Lynch syndrome, microsatellite instability, ataxia telangiectasia mutated, molecular pathology, next generation sequencing, personalized medicine

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

    International Nuclear Information System (INIS)

    Souza Meirelles, E. de.

    1987-01-01

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

  6. Horner's syndrome in patients admitted to the intensive care unit that have undergone central venous catheterization: a prospective study.

    Science.gov (United States)

    Butty, Z; Gopwani, J; Mehta, S; Margolin, E

    2016-01-01

    PurposeCentral venous catheterization (CVC) is estimated to be performed in millions of patients per year. Swan-Ganz catheters used for CVC are most often inserted into the internal jugular vein and during this procedure they may come into contact with the sympathetic chain. This study aims to determine the incidence of Horner's syndrome in patients admitted to intensive care unit that have undergone internal jugular CVC insertion during their admission and to determine whether ultrasonography-assisted insertion has decreased the frequency of this complication.Patients and methodsA total of 100 prospective patients admitted to the ICU were examined for the presence of anisocoria and ptosis after undergoing recent CVC. Presence of Horner's syndrome was confirmed by testing with 0.5% apraclonidine and looking for the reversal of anisocoria.ResultsFrequency of Horner's syndrome after CVC was 2% in a sample of 100 prospectively examined patients.ConclusionHorner's syndrome remains a relatively rare but definitive complication of CVC. ICU physicians should be educated about its existence and prevalence and ophthalmologists should inquire about any history of ICU admission necessitating CVC insertion in any patient presenting with Horner's syndrome.

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

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    den Engelsen Corine

    2012-09-01

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

  8. Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease.

    Science.gov (United States)

    Derikx, Lauranne A A P; Smits, Lisa J T; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M; van Kouwen, Mariëtte C A; Nagengast, Fokko M; Nagtegaal, Iris D; Hoogerbrugge, Nicoline; Hoentjen, Frank

    2017-03-01

    Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by establishing a Lynch syndrome cohort from the Radboud University Medical Center (Nijmegen, The Netherlands) and the Academic Medical Center (Amsterdam, The Netherlands). Patients with heterozygous germline mutations in MLH1, MSH2 (and EPCAM deletion-mediated MSH2 methylation), MSH6, or PMS2 who were tested and/or treated from 1998 through 2014 were included. Patients who developed IBD were identified by linkage of this cohort to the Dutch nationwide Pathology Registry (PALGA). Subsequently, we compared the risk of CRC between Lynch syndrome patients with IBD and without IBD. Of 1046 patients with Lynch syndrome, 15 developed IBD (1.4%). Patients with Lynch syndrome and IBD were significantly younger (median age, 38.0 y) than patients with Lynch syndrome without IBD (median age, 52.0 y; P = .001). Nevertheless, a similar proportion of patients in each group developed CRC: 4 of the 15 patients (26.7%) with Lynch syndrome and IBD compared with 311 of the 1031 patients (30.2%) with Lynch syndrome without IBD. Patients with Lynch syndrome and IBD developed CRC at a younger age (median age, 36.0 y) than patients with Lynch syndrome without IBD (median age, 46.0 y; P = .045). However, the cumulative incidence of CRC was similar between groups (P = .121). All patients with Lynch syndrome and IBD who developed CRC had ulcerative colitis, producing a higher cumulative incidence of CRC for this IBD subgroup (P Lynch syndrome and IBD develop CRC risk at a younger age than patients without IBD; patients with ulcerative colitis are at especially high risk. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  9. [Attachment Representation and Emotion Regulation in Patients with Burnout Syndrome].

    Science.gov (United States)

    Söllner, Wolfgang; Behringer, Johanna; Böhme, Stephanie; Stein, Barbara; Reiner, Iris; Spangler, Gottfried

    2016-06-01

    Burnout describes a syndrome of exhaustion resulting from insufficient coping with work-related distress. We investigated if patients that are being clinically treated for burnout show insecure and unresolved attachment representation more often compared with healthy controls. 50 out of 60 consecutive burnout patients participated in the study. Mental representation of attachment was measured by using the Adult Attachment Interview. Additionally, we administered the Self Report Questionnaire to Assess Emotional Experience and Emotion Regulation and several burnout specific questionnaires. A population sample was used as control group. Burnout patients were classified as insecurely attached significantly more often than controls. Unresolved attachment status concerning loss or trauma was found significantly more often within the burnout sample. Patients with insecure attachment representation reported a lower subjective significance of work. Patients with avoidant insecure attachment showed more depersonalisation. Patients with unresolved loss/trauma reported less social support. They showed more passive-negative emotion experience and emotion regulation characterized by externalization. The results of the study suggest that an insecure or unresolved attachment representation might constitute an intrapersonal risk factor for the development of burnout syndrome. © Georg Thieme Verlag KG Stuttgart · New York.

  10. Restless legs syndrome in patients with sequelae of poliomyelitis.

    Science.gov (United States)

    Kumru, Hatice; Portell, Enric; Barrio, Manuela; Santamaria, Joan

    2014-10-01

    No studies have examined the association between RLS and the sequelae of poliomyelitis (PM). We studied the frequency and severity of RLS in a group of consecutive patients with the sequelae of poliomyelitis (PM) and the effect of treatment with dopaminergic drugs. A diagnosis of RLS was made according to the criteria of the International RLS Study Group, and severity was assessed by the RLS rating scale. Information on sex, age, age at onset, site affected by PM, disease duration of PM, and history of post-polio syndrome (pPS) was obtained in a cohort of 52 PM patients. The mean age was 55.9 ± 6.5 years; 39 patients had post-polio syndrome (75%). RLS was diagnosed in 21 (40.4%) patients. Sixteen of the 21 patients (76.2%) with RLS had pPS, which was similar to the non-RLS group (74.2% patients with pPS). RLS symptoms were very severe in 5 patients, severe in 13, moderate in 2 and mild in 1. Nineteen of the 21 patients with RLS had symptoms predominantly in the more affected lower limb (90% of patients). Sixteen patients received dopaminergic agonist treatment with a significant reduction in their scores on the RLS severity scale from 28.3 ± 4.7 to 6.9 ± 7.3 (p < 0.001). RLS occurs frequently in patients with PM, both in those with and without pPS, and responds well to treatment with dopaminergic drugs. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. Characteristics of patients with chronic exertional compartment syndrome.

    Science.gov (United States)

    Davis, Daniel E; Raikin, Steven; Garras, David N; Vitanzo, Peter; Labrador, Hallie; Espandar, Ramin

    2013-10-01

    Chronic exertional compartment syndrome (CECS) is a condition that causes reversible ischemia and lower extremity pain during exercise. To date there are few large studies examining the characteristics of patients with CECS. This study aimed to present these characteristics by examining the largest published series of patients with a confirmed diagnosis of the disorder. An IRB-approved, retrospective review was undertaken of patients with a suspected diagnosis of CECS undergoing pre- and postexercise compartment pressure testing between 2000 and 2012. Patients were evaluated for gender, age, duration of symptoms, pain level, specific compartments involved, compartment pressure measurements, and participation and type of athletics. Two-hundred twenty-six patients (393 legs) underwent compartment pressure testing. A diagnosis of CECS was made in 153 (67.7%) patients and 250 (63.6%) legs with elevated compartment measurements; average age of the patients was 24 years (range, 13-69 years). Female patients accounted for 92 (60.1%) of those with elevated pressures. Anterior and lateral compartment pressures were elevated most frequently, with 200 (42.5%) and 167 (35.5%) compartments, respectively. One hundred forty-one (92.2%) patients reported participation in sports, with running being the most common individual sport and soccer being the most common team sport. Duration of pain prior to diagnosis averaged 28 months. Although there is ample literature pertaining to the diagnostic criteria and treatment algorithm of the condition, few papers have described the type of patient most likely to develop CECS. This is the largest study to date to evaluate the type of patient likely to present with chronic exertional compartment syndrome. Level III, retrospective review.

  12. Understanding Gut Fermentation Syndrome in the Psychiatric Evaluation of Patients with Suspected Alcohol Use Disorder

    Science.gov (United States)

    2017-10-18

    Fermentation Syndrome in the Psychiatric Evaluation of Patients with Suspected Alcohol Use Disorder Sb. GRANT NUMBER Sc. PROGRAM ELEMENT NUMBER 6...by ANSI Std. Z39.18 Adobe Professional 7. 0 Introduction Gut Fermentation Syndrome, also known as auto- brewery syndrome, is a phenomenon not well...patient stated abstinence from alcohol use and that Gut Fermentation Syndrome was the cause of continually elevated blood alcohol levels. We will

  13. Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.

    Science.gov (United States)

    Geusau, Alexandra; Mothes-Luksch, Nadine; Nahavandi, Hesam; Pickl, Winfried F; Wise, Carol A; Pourpak, Zahra; Ponweiser, Elisabeth; Eckhart, Leopold; Sunder-Plassmann, Raute

    2013-02-01

    Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (OMIM 604416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic sterile arthritis and less frequently accompanied by pyoderma gangrenosum and acne. It is associated with dominant missense mutations in the proline-serine-threonine phosphatase-interacting protein 1 gene (PSTPIP1) located on chromosome 15. The patient was diagnosed as having features of a PAPA-like syndrome in which cutaneous manifestations, such as pyoderma gangrenosum and acne fulminans, predominated. Sequencing of the PSTPIP1 gene was performed in the patient and his extended family. The patient's DNA analysis revealed a homozygous nucleotide exchange c.773G>C in the PSTPIP1 gene, leading to the substitution of glycine 258 by alanine (p.Gly258Ala), a previously reported heterozygous polymorphism. Heterozygous changes were identified in both of the patient's parents and in 7 other family members, all of whom were asymptomatic. The patient was treated with canakinumab, a human anti-interleukin 1β monoclonal antibody, which led to rapid remission of the symptoms. To our knowledge, this is the first reported case of the resolution of dermatological symptoms associated with a PAPA-like syndrome using canakinumab treatment. Further study of the p.Gly258Ala variant is warranted to determine whether this mutation has a role in causing an apparently recessive cutaneous syndrome resembling PAPA syndrome.

  14. Dopamine agonist withdrawal syndrome: implications for patient care.

    Science.gov (United States)

    Nirenberg, Melissa J

    2013-08-01

    Dopamine agonists are effective treatments for a variety of indications, including Parkinson's disease and restless legs syndrome, but may have serious side effects, such as orthostatic hypotension, hallucinations, and impulse control disorders (including pathological gambling, compulsive eating, compulsive shopping/buying, and hypersexuality). The most effective way to alleviate these side effects is to taper or discontinue dopamine agonist therapy. A subset of patients who taper a dopamine agonist, however, develop dopamine agonist withdrawal syndrome (DAWS), which has been defined as a severe, stereotyped cluster of physical and psychological symptoms that correlate with dopamine agonist withdrawal in a dose-dependent manner, cause clinically significant distress or social/occupational dysfunction, are refractory to levodopa and other dopaminergic medications, and cannot be accounted for by other clinical factors. The symptoms of DAWS include anxiety, panic attacks, dysphoria, depression, agitation, irritability, suicidal ideation, fatigue, orthostatic hypotension, nausea, vomiting, diaphoresis, generalized pain, and drug cravings. The severity and prognosis of DAWS is highly variable. While some patients have transient symptoms and make a full recovery, others have a protracted withdrawal syndrome lasting for months to years, and therefore may be unwilling or unable to discontinue DA therapy. Impulse control disorders appear to be a major risk factor for DAWS, and are present in virtually all affected patients. Thus, patients who are unable to discontinue dopamine agonist therapy may experience chronic impulse control disorders. At the current time, there are no known effective treatments for DAWS. For this reason, providers are urged to use dopamine agonists judiciously, warn patients about the risks of DAWS prior to the initiation of dopamine agonist therapy, and follow patients closely for withdrawal symptoms during dopamine agonist taper.

  15. Xanthine oxidase activity and free radical generation in patients with sepsis syndrome

    DEFF Research Database (Denmark)

    Galley, H F; Davies, Michael Jonathan; Webster, N R

    1996-01-01

    OBJECTIVE: To determine xanthine oxidase activity, free radical concentrations, and lipid peroxidation in patients with sepsis syndrome compared with noninfected critically ill patients. DESIGN: A prospective observational study. SETTING: A nine-bed intensive care unit in a university teaching......). CONCLUSIONS: Patients with sepsis have xanthine oxidase activation, high free-radical concentrations, and evidence of free radical damage. The finding that xanthine oxidase activity was lower in those patients who died, coupled with increased lactate concentrations implies more severe ischemia with incomplete...... to the Acute Physiology and Chronic Health Evaluation (APACHE) II score or to the presence of organ dysfunction. The mean ascorbyl radical concentration (arbitrary units) determined by electron paramagnetic resonance following spin trapping was increased in patients compared with healthy subjects (p

  16. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  17. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  18. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W.; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; de Wolf, F.; Zaheri, S.; Gras, L.; Bronsveld, W.; Hillebrand-Haverkort, M. E.; Prins, J. M.; Bos, J. C.; Eeftinck Schattenkerk, J. K. M.; Geerlings, S. E.; Godfried, M. H.; Lange, J. M. A.; van Leth, F. C.; Lowe, S. H.; van der Meer, J. T. M.; Nellen, F. J. B.; Pogány, K.; van der Poll, T.; Ruys, Th A.; Steingrover, R.; van Twillert, G.; van der Valk, M.; van Vonderen, M. G. A.; Vrouenraets, S. M. E.; van Vugt, M.; Wit, F. W. M. N.; van Eeden, A.; ten Veen, J. H.; van Dam, P. S.; Roos, J. C.; Brinkman, K.; Frissen, P. H. J.; Weigel, H. M.; Mulder, J. W.; van Gorp, E. C. M.; Meenhorst, P. L.; Mairuhu, A. T. A.; Veenstra, J.; Danner, S. A.; van Agtmael, M. A.; Claessen, F. A. P.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  19. The Results of Corneal Hydrops Treatment in Patients with Down Syndrome

    Directory of Open Access Journals (Sweden)

    V. K. Surkova

    2018-01-01

    Full Text Available The article describes the clinical cases of acute keratoconus in three patients with Down syndrome who underwent penetrating  keratoplasty. Acute keratoconus were diagnosed in patients by examination of medical history, biomicroscopy, corneal topography,optical coherence tomography. Acute keratoconus occurs suddenly due to the rupture of Descemet’s membrane in the zone of itsstretching, when chamber moisture seeps into the thickness of the stroma, causing its swelling and perforation. If untreated, theprocess continues for 3–5 months. Most researchers recommend keratoplasty during the cold period of the disease. However, withthe threat of perforation require urgent surgical intervention. There are two effective methods of surgical treatment: epikeratophakiaand penetrating keratoplasty. Patients underwent penetrating keratoplasty. The preference for this method was given in connectionwith the following factors: young age patients (under 40 years, relatively healthy transparent peripheral zone of the cornea, whichwas observed in our patients, genetically determined diseases — Down syndrome, the threat of corneal perforation in the centre, apenchant for rubbing his eye, low vision other eye and the desire to obtain speedy optical effect along with the treatment. All patientsafter penetrating keratoplasty had improvement of visual acuity with observation periods up to 1 year. Due to the relatively highincidence of keratoconus in patients with Down syndrome should focus the attention of ophthalmologists. Thus, difficulties in thediagnosis of ophthalmic pathology in patients with concomitant Down syndrome can cause errors in verification of diagnosis and hencewrong treatment selection. In case of hydrops of the cornea penetrating keratoplasty is the choice treatment and contributes to the preservation of the eye and visual functions.

  20. Oral glucose tolerance test predicts increased carotid plaque burden in patients with acute coronary syndrome.

    Directory of Open Access Journals (Sweden)

    Thorarinn A Bjarnason

    Full Text Available Type 2 diabetes and prediabetes are established risk factors for atherosclerosis. The aim of this study was to evaluate the atherosclerotic plaque burden in the carotid arteries of patients with acute coronary syndrome according to their glycemic status.Patients with acute coronary syndrome and no previous history of type 2 diabetes were consecutively included in the study. Glucose metabolism was evaluated with fasting glucose in plasma, HbA1c and a standard two-hour oral glucose tolerance test. Atherosclerotic plaque in the carotid arteries was evaluated with a standardized ultrasound examination where total plaque area was measured and patients classified as having no plaque or a significant plaque formation.A total of 245 acute coronary syndrome patients (male 78%, 64 years (SD: 10.9 were included. The proportion diagnosed with normal glucose metabolism, prediabetes and type 2 diabetes was 28.6%, 64.1% and 7.3%, respectively. A significant atherosclerotic plaque was found in 48.5%, 66.9% and 72.2% of patients with normal glucose metabolism, prediabetes and type 2 diabetes, respectively. An incremental increase in total plaque area was found from normal glucose metabolism to prediabetes (25.5% and from normal glucose metabolism to type 2 diabetes (35.9% (p = 0.04. When adjusted for conventional cardiovascular risk factors the OR of having significant atherosclerotic plaque in the carotid arteries was 2.17 (95% CI 1.15-4.15 for patients with newly diagnosed dysglycemia compared to patients with normal glucose metabolism. When additionally adjusted for the 2-hour plasma glucose after glucose loading (2hPG the OR attenuated to 1.77 (95% CI 0.83-3.84.Newly detected dysglycemia is an independent predictor of significant atherosclerotic plaque in the carotid arteries with oral glucose tolerance test as a major determinant of carotid plaque burden in this group of individuals with acute coronary syndrome.

  1. The risk of ischaemic stroke in primary antiphospholipid syndrome patients

    DEFF Research Database (Denmark)

    Radin, M; Schreiber, K; Cecchi, I

    2018-01-01

    BACKGROUND AND PURPOSE: The most common neurological manifestation of antiphospholipid syndrome (APS) is ischaemic stroke. Identifying patients with APS at high risk for developing any thrombotic event remains a major challenge. In this study, the aim was to identify predictive factors of ischaemic...... thrombosis and were receiving vitamin K antagonist (VKA), with international normalized ratio target 2-3; one patient had a history of a previous arterial event receiving treatment with VKA target international normalized ratio 2-3 plus low dose aspirin; and one patient had a history of previous pregnancy...... morbidity receiving only low dose aspirin. Time in the therapeutic range for patients receiving VKA was 77.7% (SD 6.6%). Hypercholesterolaemia was significantly higher in patients with confirmed stroke compared to those without (P

  2. Growth profiles of 34 patients with Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Shimojima, Keiko; Yamamoto, Toshiyuki

    2012-03-01

    Wolf-Hirschhorn syndrome (WHS) encompasses multiple congenital anomalies and mental retardation and is caused by partial deletions in the short arm of chromosome 4. Prenatal-onset growth deficiency is one of the WHS characteristics. Assessing and recording growth profiles of patients with WHS were the aims of this study. Anonymous questionnaire surveys were conducted with cooperation of a WHS peer-support group in Japan, and data from 34 WHS patients (12 males and 22 females; age, 1-23 years) were retrospectively collected. Height, weight, and head circumference (occipitofrontal head circumference) were measured and plotted on the standard growth charts of healthy Japanese children. Results indicated that most WHS patients showed growth retardation under the 3rd percentile since the first year of life and extremely poor body-weight gain after pubertal age. These findings are characteristic of WHS patients. The assessed growth patterns in this study could help monitoring and documentation of growth of WHS patients.

  3. Cerebral toxoplasmosis and lymphoma in patients with Acquired Immunodeficiency Syndrome

    International Nuclear Information System (INIS)

    Laviopierre, A.M.; Lawler, G.A.

    1989-01-01

    Toxoplasmosis now constitutes a relatively frequent central nervous system (CNS) complication of AIDS, primary CNS lymphoma being far less common. CT scanning using the double-dose delayed (D-D-D) scan technique has proved an effective way of helping in the diagnosis of these complications. 16 patients with CNS complications of the acquired immunodeficiency syndrome (AIDS) are described. All patients were male homosexuals. The most common demonstrable lesion in the parenchyma was toxoplasmosis, which produced an area of focal oedema, usually containing a central zone of nodular or ring-shaped enhancement. Cerebral atrophy was also a common finding. One patient had diffuse peri-ventricular lymphomatous infiltration, and a further two patients had both cerebral toxoplasmosis and lymphoma. A delayed double dose contrast examination appears to be the most accurate method of outlining the total extent of CNS disease in these patients. 11 refs., 7 figs., 2 tabs

  4. Double-Blind, Randomized Study of the Effects of Influenza Vaccination on the Specific Antibody Response and Clinical Course of Patients with Chronic Fatigue Syndrome

    Directory of Open Access Journals (Sweden)

    Kenna M Sleigh

    2000-01-01

    Full Text Available OBJECTIVE: To determine whether influenza immunization is associated with early side effects, a deleterious impact on the illness course and depressed antibody response in patients with chronic fatigue syndrome (CFS.

  5. Radioimmunological determination of follicle stimulating hormone in the serum of patients with various gonadal disturbances

    International Nuclear Information System (INIS)

    Otte, P.

    1982-01-01

    A new kit for FSH determination in the serum was tested: the precision, sensitivity and specificity of this kit were adequate. With 185 men and 99 women with various hypophyseal and gonadal disorders the serum FSH was determined in radioimmunoassay as a supplement for diagnostic. Patients with hypophyseal tumors had to some extent pre-operatively increased and after hypophysectomy in general subnormal FSH values. Male patients with primary hypogonadism had without substitution therapy inclusively distinct to pronounced FSH level increases. With young patients with gynecomastia FSH values which lay primarily in the normal range were measured. Female patients with primary ovarial insufficiency often indicated very sharp increases in FSH levels. Female patients with Turner syndrome showed high FSH values at puberty age. In girls with hyposomia and hypogonadism high FSH levels refer accordingly to such a syndrome. (orig.) [de

  6. Comparison of education and balneotherapy efficacy in patients with fibromyalgia syndrome: A randomized, controlled clinical study.

    Science.gov (United States)

    Koçyiğit, Burhan Fatih; Gür, Ali; Altındağ, Özlem; Akyol, Ahmet; Gürsoy, Savaş

    2016-04-01

    Fibromyalgia is a disease characterized by chronic, widespread pain. Pharmacological and non-pharmacological treatment methods are used. The aim of the present study was to determine the effect of balneotherapy on treatment of fibromyalgia syndrome, compared with education alone. A total of 66 patients diagnosed with fibromyalgia syndrome were randomly separated into balneotherapy and control groups. Patients in both groups were informed about fibromyalgia syndrome. In addition, the balneotherapy group received 21 sessions of spa treatment with 34.8 °C thermomineral water, attending the spa 5 days a week. Patients were evaluated by visual analogue scale, tender point count, fibromyalgia impact questioning, and modified fatigue impact scale at initiation of treatment on the 15th day, 1st month, 3rd month, and 6th month. Evaluations were performed by the same doctor. Statistically significant improvement was detected in all parameters, compared to starting evaluation, in both groups. Most improved results among all parameters were observed in the balneotherapy group on the first 3-month follow-up. In addition, all parameters beyond tender point count and modified fatigue impact were improved on 6-month follow-up. It was concluded that addition of balneotherapy to patient education has both short- and long-term beneficial effects on female patients with fibromyalgia.

  7. Waardenburg syndrome type 2 in an african patient

    Directory of Open Access Journals (Sweden)

    H. Otman S

    2005-01-01

    Full Text Available A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting the upper parts of the trunk, both arms and forearms. The nasal root was hypertrophied, but there was a lack of lateral displacement of medial canthi. We report this case of Waardenburg syndrome type 2 (WS 2. As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition.

  8. Acute carpal tunnel syndrome in a patient with haemophilia.

    Science.gov (United States)

    Mayne, Alistair Ivan William; Howard, Anthony; Kent, Matthew; Banks, Joanne

    2012-07-03

    Acute carpal tunnel syndrome (CTS) is a rare surgical condition usually resulting from wrist trauma. We present the case of a young haemophilic man who developed acute CTS following trivial injury. The patient was initially managed conservatively but symptom progression resulted in carpal tunnel decompression. A literature review and management approach are presented. This is an important complication of haemophilia to be aware of as prompt conservative management can obviate the need for surgery. This case is useful in (a) highlighting the importance of considering a patient's medical history when formulating differential diagnoses and (b) outlining a management approach to this condition.

  9. Aortic dissection in patients with Marfan syndrome based on the IRAD data.

    Science.gov (United States)

    de Beaufort, Hector W L; Trimarchi, Santi; Korach, Amit; Di Eusanio, Marco; Gilon, Dan; Montgomery, Daniel G; Evangelista, Arturo; Braverman, Alan C; Chen, Edward P; Isselbacher, Eric M; Gleason, Thomas G; De Vincentiis, Carlo; Sundt, Thoralf M; Patel, Himanshu J; Eagle, Kim A

    2017-11-01

    Between January 1996 and May 2017, the International Registry on Acute Aortic Dissections has collected information on a total of 6,424 consecutive patients with acute aortic dissection, including 258 individuals with a diagnosis of Marfan syndrome. Patients with Marfan syndrome presented at a significantly younger age compared to patients without Marfan syndrome (38.2±13.2 vs . 63.0±14.0 years; PMarfan syndrome cohort, but no larger diameters more distally. The in-hospital mortality in type A dissection was not significantly different in patients with or without Marfan syndrome, despite the differences in age and comorbidities and the lower incidence of aortic rupture in the Marfan syndrome cohort. In contrast, the in-hospital mortality of Marfan syndrome patients with type B dissection appears to be lower than that of patients without Marfan syndrome. The Marfan syndrome cohort that was treated with open surgery for type B dissection seemed to do especially well, with a 0% mortality rate (n=27). Follow-up data for type A and B dissections combined show an estimated five-year survival rate of 80.1% and an estimated reintervention rate of 55.3% in patients with Marfan syndrome. Such a high rate of reinterventions highlights the need for careful surveillance and treatment for patients with Marfan syndrome surviving the acute phase of aortic dissection.

  10. Spinal deformity in patients with Sotos syndrome (cerebral gigantism).

    Science.gov (United States)

    Tsirikos, Athanasios I; Demosthenous, Nestor; McMaster, Michael J

    2009-04-01

    Retrospective review of a case series. To present the clinical characteristics and progression of spinal deformity in patients with Sotos syndrome. There is limited information on the development of spinal deformity and the need for treatment in this condition. The medical records and spinal radiographs of 5 consecutive patients were reviewed. All patients were followed to skeletal maturity (mean follow-up: 6.6 y). The mean age at diagnosis of spinal deformity was 11.9 years (range: 5.8 to 14.5) with 4 patients presenting in adolescence. The type of deformity was not uniform. Two patients presented in adolescence with relatively small and nonprogressive thoracolumbar and lumbar scoliosis, which required observation but no treatment until the end of spinal growth. Three patients underwent spinal deformity correction at a mean age of 11.7 years (range: 6 to 15.4). The first patient developed a double structural thoracic and lumbar scoliosis and underwent a posterior spinal arthrodesis extending from T3 to L4. Five years later, she developed marked degenerative changes at the L4/L5 level causing symptomatic bilateral lateral recess stenosis and affecting the L5 nerve roots. She underwent spinal decompression at L4/L5 and L5/S1 levels followed by extension of the fusion to the sacrum. The second patient developed a severe thoracic kyphosis and underwent a posterior spinal arthrodesis. The remaining patient presented at the age of 5.9 years with a severe thoracic kyphoscoliosis and underwent a 2-stage antero-posterior spinal arthrodesis. The development of spinal deformity is a common finding in children with Sotos syndrome and in our series it occurred in adolescence in 4 out of 5 patients. There is significant variability on the pattern of spine deformity, ranging from a scoliosis through kyphoscoliosis to a pure kyphosis, and also the age at presentation and need for treatment.

  11. Re-interventions on the thoracic and thoracoabdominal aorta in patients with Marfan syndrome

    OpenAIRE

    Schoenhoff, Florian S.; Carrel, Thierry P.

    2017-01-01

    The advent of multi-gene panel genetic testing and the discovery of new syndromic and non-syndromic forms of connective tissue disorders have established thoracic aortic aneurysms as a genetically mediated disease. Surgical results in patients with Marfan syndrome (MFS) provide an important benchmark for this patient population. Prophylactic aortic root surgery prevents acute dissection and has contributed to the improved survival of MFS patients. In the majority of patients, re-interventions...

  12. Prevalence and determinants of metabolic syndrome in Qatar: results from a National Health Survey

    Science.gov (United States)

    Al-Thani, Mohamed Hamad; Al-Thani, Al Anoud Mohammed; Cheema, Sohaila; Sheikh, Javaid; Mamtani, Ravinder; Lowenfels, Albert B; Al-Chetachi, Walaa Fattah; Almalki, Badria Ali; Hassan Khalifa, Shamseldin Ali; Haj Bakri, Ahmad Omar; Maisonneuve, Patrick

    2016-01-01

    Objectives To determine optimum measurements for abdominal obesity and to assess the prevalence and determinants of metabolic syndrome in Qatar. Design National health survey. Setting Qatar National STEPwise Survey conducted by the Supreme Council of Health during 2012. Participants 2496 Qatari citizens aged 18–64 representative of the general population. Primary and secondary outcome measures Measure of obesity (body mass index, waist circumference or waist-to-height ratio) that best identified the presence of at least 2 other factors of metabolic syndrome; cut-off values of waist circumference; frequency of metabolic syndrome. Results Waist circumference ≥102 for men and ≥94 cm for women was the best predictor of the presence of other determinants of metabolic syndrome (raised blood pressure, fasting blood glucose, triglycerides and reduced high-density lipoprotein cholesterol). Using these values, we identified 28% of Qataris with metabolic syndrome, which is considerably lower than the estimate of 37% calculated using the International Diabetes Federation (IDF) criteria. Restricting the analysis to participants without known elevated blood pressure, elevated blood sugar or diabetes 16.5% would be classified as having metabolic syndrome. In a multivariable logistic regression analysis, the prevalence of metabolic syndrome increased steadily with age (OR=3.40 (95% CI 2.02 to 5.74), OR=5.66 (3.65 to 8.78), OR=10.2 (5.98 to 17.6) and OR=18.2 (7.01 to 47.5) for those in the age group ‘30–39’, ‘40–49’, ‘50–59’, ‘60–64’ vs ‘18–29’; pQatar. Approximately 28% of adult Qatari citizens satisfy the criteria for metabolic syndrome, which increased significantly with age. Education and physical activity were inversely associated with this syndrome. PMID:27601485

  13. Anesthesia in a pediatric patient with ROHADD syndrome.

    Science.gov (United States)

    Esparza Isasa, E; Palomero Rodríguez, M A; Acebedo Bambaren, I; Medrano Viñas, C; Gil Mayo, D; Domínguez Pérez, F; Pestaña Lagunas, D

    2018-05-01

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare entity that is characterised by its onset in healthy children at 2-4 years of age. It is a complex syndrome that includes, among other symptoms, rapid weight gain with hyperphagia, hypothalamic dysfunction, central hypoventilation, and autonomic dysregulation. The case is presented of a 10-year-old boy with a diagnosis of ROHHAD syndrome undergoing insertion of a port-a-cath under general anaesthesia, who developed complications during the anaesthetic procedure related to his illness. The peri-operative management of these patients represents a challenge for the anaesthetist, given the involvement of multiple systems and the frequent respiratory comorbidities associated with them. A summary is presented of some of the implications and anaesthetic considerations that must be taken into account in the management of these patients. Copyright © 2018 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Area Median Income and Metropolitan Versus Nonmetropolitan Location of Care for Acute Coronary Syndromes: A Complex Interaction of Social Determinants.

    Science.gov (United States)

    Fabreau, Gabriel E; Leung, Alexander A; Southern, Danielle A; James, Matthew T; Knudtson, Merrill L; Ghali, William A; Ayanian, John Z

    2016-02-23

    Metropolitan versus nonmetropolitan status and area median income may independently affect care for and outcomes of acute coronary syndromes. We sought to determine whether location of care modifies the association among area income, receipt of cardiac catheterization, and mortality following an acute coronary syndrome in a universal health care system. We studied a cohort of 14 012 acute coronary syndrome patients admitted to cardiology services between April 18, 2004, and December 31, 2011, in southern Alberta, Canada. We used multivariable logistic regression to determine the odds of cardiac catheterization within 1 day and 7 days of admission and the odds of 30-day and 1-year mortality according to area median household income quintile for patients presenting at metropolitan and nonmetropolitan hospitals. In models adjusting for area income, patients who presented at nonmetropolitan facilities had lower adjusted odds of receiving cardiac catheterization within 1 day of admission (odds ratio 0.22, 95% CI 0.11-0.46, Pcommunities. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  15. Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

    Science.gov (United States)

    Demidowich, Andrew P; Freeman, Alexandra F; Kuhns, Douglas B; Aksentijevich, Ivona; Gallin, John I; Turner, Maria L; Kastner, Daniel L; Holland, Steven M

    2012-06-01

    To describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients. Clinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 (CD2BP1) exon 10 and exon 11 sequencing was performed in each patient. Neutrophil granule content and cytokine levels were determined in plasma and stimulated peripheral blood mononuclear cells (PBMCs) from patients and controls. We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K. Disease penetrance was incomplete, with variable expressivity. The cutaneous manifestations included pathergy, cystic acne, and pyoderma gangrenosum. Interleukin-1β (IL-1β) and circulating neutrophil granule enzyme levels were markedly elevated in patients compared to those in controls. PBMC stimulation studies demonstrated impaired production of IL-10 and enhanced production of granulocyte-macrophage colony-stimulating factor. Good resolution of pyoderma gangrenosum was achieved in 3 patients with tumor necrosis factor α (TNFα) blockade treatment. This analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome. Neutrophil granule proteins are markedly elevated ex vivo and in the plasma, and elevated levels might be compatible with a diagnosis of PAPA syndrome. TNFα blockade appears to be effective in treating the cutaneous manifestations of PAPA syndrome. Copyright © 2012 by the American College of Rheumatology.

  16. 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.

  17. Causes of death in 2877 patients with myelodysplastic syndromes.

    Science.gov (United States)

    Nachtkamp, Kathrin; Stark, Romina; Strupp, Corinna; Kündgen, Andrea; Giagounidis, Aristoteles; Aul, Carlo; Hildebrandt, Barbara; Haas, Rainer; Gattermann, Norbert; Germing, Ulrich

    2016-05-01

    Patients with myelodysplastic syndromes face a poor prognosis. The exact causes of death have not been described properly in the past. We performed a retrospective analysis of causes of death using data of 3792 patients in the Düsseldorf registry who have been followed up for a median time of 21 months. Medical files as well as death certificates were screened and primary care physicians were contacted. Death after AML evolution, infection, and bleeding was considered to be clearly disease-related. Further categories of causes of death were heart failure, other possibly disease-related reasons, such as hemochromatosis, disease-independent reasons as well as cases with unclear causes of death. Median age at the time of diagnosis was 71 years. At the time of analysis, 2877 patients (75.9 %) had deceased. In 1212 cases (42.1 %), the exact cause of death could not be ascertained. From 1665 patients with a clearly documented cause of death, 1388 patients (83.4 %) succumbed directly disease-related (AML (46.6 %), infection (27.0 %), bleeding (9.8 %)), whereas 277 patients (16.6 %) died for reasons not directly related with myelodysplastic syndromes (MDS), including 132 patients with cardiac failure, 77 non-disease-related reasons, 23 patients with solid tumors, and 45 patients with possibly disease-related causes like hemochromatosis. Correlation with IPSS, IPSS-R, and WPSS categories showed a proportional increase of disease-related causes of death with increasing IPSS/IPSS-R/WPSS risk category. Likewise, therapy-related MDS were associated with a higher percentage of disease-related causes of death than primary MDS. This reflects the increasing influence of the underlying disease on the cause of death with increasing aggressiveness of the disease.

  18. Treatment strategies for the infertile polycystic ovary syndrome patient.

    Science.gov (United States)

    Tannus, Samer; Burke, Yechiel Z; Kol, Shahar

    2015-11-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Infertility is a prevalent presenting feature of PCOS, and approximately 75% of these women suffer infertility due to anovulation. Lifestyle modification is considered the first-line treatment and is associated with improved endocrine profile. Clomiphene citrate (CC) should be considered as the first line pharmacologic therapy for ovulation induction. In women who are CC resistant, second-line treatment should be considered, as adding metformin, laparoscopic ovarian drilling or treatment with gonadotropins. In CC treatment failure, Letrozole could be an alternative or treatment with gonadotropins. IVF is considered the third-line treatment; the 'short', antagonist-based protocol is the preferred option for PCOS patients, as it is associated with lower risk of developing ovarian hyperstimulation syndrome (specifically by using a gonadotropin--releasing hormone agonist as ovulation trigger), but with comparable outcomes as the long protocol.

  19. Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Marfan Syndrome.

    Science.gov (United States)

    Kim, Sarasa T; Cloft, Harry; Flemming, Kelly D; Kallmes, David F; Lanzino, Giuseppe; Brinjikji, Waleed

    2018-02-01

    Small studies have suggested that Marfan syndrome is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of Marfan syndrome is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). Using the 2000-2012 NIS, we performed a case-control study matching cases of Marfan syndrome to controls without such a diagnosis. The prevalence of various cerebrovascular diseases between the 2 groups were compared, and multivariate logistic regression was used to adjust for suspected comorbidities. Between 2000 and 2012, there were a total of 13,883 discharges carrying a diagnosis of Marfan syndrome. On univariate analysis, patients with Marfan syndrome were more likely to have a primary or secondary diagnosis of hemorrhagic stroke (0.5% versus 0.3%, odds ratio [OR] = 1.56, 95% confidence interval [CI] = 1.06-2.29, P = 0.02) as well as intracranial hemorrhage (subarachnoid hemorrhage [SAH] and hemorrhagic stroke) (0.3% versus 0.2%, OR = 1.72, 95% CI = 1.05-2.82, P = 0.03). Patients hospitalized with Marfan syndrome were significantly more likely to have carotid dissection (0.3% versus 0.0%, OR = 11.69, 95% CI = 3.60-38.08, P Marfan syndrome had significantly higher odds of ischemic stroke (OR = 1.20, 95% CI = 1.02-1.43, P = 0.03), hemorrhagic stroke (OR = 1.75, 95% CI = 1.18-2.63, P = 0.005), carotid artery dissection (OR = 11.94, 95% CI = 4.23-50.03, P Marfan syndrome when compared with controls. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  20. BISOPROLOL AND METFORMIN IN PATIENTS WITH ARTERIAL HYPERTENSION AND METABOLIC SYNDROME

    Directory of Open Access Journals (Sweden)

    V. A. Nevzorova

    2007-01-01

    Full Text Available Aim. To compare efficacy of bisoprolol and bisoprolol+metformin combination in patients with arterial hypertension (AH and metabolic syndrome (MS.Material and methods. 20 patients with AH and MS were involved in the study. They were randomized in 2 groups, 10 patients in each group. Patients of the 1st group received bisoprolol. Patients of the 2nd group received combination of bisoprolol and metformin. Blood pressure (BP, body mass index (BMI, carbohydrate metabolism, lipid profile, microalbuminuria (МАU level was determined before, within and at the end of 24-week treatment.Results. Both treatments resulted in similar reduction in BP. Reduction of BMI and insulin plasma concentration was more significant in patients received combined therapy. Both treatments improved lipid profile and reduced MAU.Conclusion. Bisoprolol has positive effect on pathogenic mechanisms of AH and MS. Metformin additionally improves carbohydrate and lipid metabolism.

  1. Incidence and risk factors of refeeding syndrome in head and neck cancer patients

    DEFF Research Database (Denmark)

    Rasmussen, Stine Ostenfeldt; Kristensen, Marianne Boll; Wessel, Irene

    2016-01-01

    This study aimed to determine the incidence rates of refeeding phenomena (defined as a decline in p-phosphate) and refeeding syndrome (RFS; defined as development of clinical symptoms in addition to a decline in p-phosphate) in head and neck cancer patients, and to identify risk factors. Fifty......-four head and neck cancer patients referred for surgery were included. Forty-six potential risk factors were registered at the baseline, and p-phosphate was measured at Days 2, 4, and 7. Eleven patients (20%) developed RFS, and twenty-eight (52%) developed refeeding phenomena. At baseline, these patients...... presented a higher prevalence of head and neck pain, eating difficulties, higher p-phosphate levels, lower p-transferrin levels, and, in men, lower b-hemoglobin levels. Patients who developed symptoms had a decline in p-phosphate ≥0.22 mmol/l. At baseline, these patients had higher p-phosphate levels...

  2. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    International Nuclear Information System (INIS)

    Yamazaki, Masashi; Okawa, Akihiko; Hashimoto, Mitsuhiro; Aiba, Atsuomi; Someya, Yukio; Koda, Masao

    2008-01-01

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  3. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Yamazaki, Masashi; Okawa, Akihiko; Hashimoto, Mitsuhiro; Aiba, Atsuomi; Someya, Yukio; Koda, Masao [Chiba University Graduate School of Medicine, Spine Section, Department of Orthopaedic Surgery, Chiba (Japan)

    2008-06-15

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  4. The Impact of Hypertension on Patients with Acute Coronary Syndromes

    Directory of Open Access Journals (Sweden)

    Claudio Picariello

    2011-01-01

    Full Text Available Arterial chronic hypertension (HTN is a well-known cardiovascular risk factor for development of atherosclerosis. In order to explain the relation between HTN and acute coronary syndromes the following factors should be considered: (1 risk factors are shared by the diseases, such as genetic risk, insulin resistance, sympathetic hyperactivity, and vasoactive substances (i.e., angiotensin II; (2 hypertension is associated with the development of atherosclerosis (which in turn contributes to progression of myocardial infarction. From all the registries and the data available up to now, hypertensive patients with ACS are more likely to be older, female, of nonwhite ethnicity, and having a higher prevalence of comorbidities. Data on the prognostic role of a preexisting hypertensive state in ACS patients are so far contrasting. The aim of the present paper is to focus on hypertensive patients with ACS, in order to better elucidate whether these patients are at higher risk and deserve a tailored approach for management and followup.

  5. The Use of Physiotherapy among Patients with Subacromial Impingement Syndrome

    DEFF Research Database (Denmark)

    Christiansen, David Høyrup; Frost, Poul; Frich, Lars Henrik

    2016-01-01

    BACKGROUND: Physiotherapy with exercises is generally recommended in the treatment of patients with subacromial impingement syndrome (SIS). OBJECTIVE: We aimed to investigate the use of physiotherapy in patients with SIS in Danish hospital settings as part of initial non-surgical treatment...... and after SIS-related surgery and to evaluate to which extent sex, socio-demographic and clinical factors predict the use of physiotherapy. METHODS: Using national health registers, we identified 57,311 patients who had a first hospital contact with a diagnosis of ICD-10, groups M75.1-75.9, 1 July 2007...... to 30 June 2011. Records of physiotherapy were extracted within 52 weeks after first contact (or until surgery), and for surgically treated patients within 26 weeks after surgery. Predictors of the use of physiotherapy after first contact and after surgery were analysed as time-to-event. RESULTS: Within...

  6. Electroconvulsive therapy in a patient with moyamoya syndrome.

    Science.gov (United States)

    Ghignone, Erica; Rosenthal, Lisa; Lloyd, Robert Brett; Mouli, Samdeep; Dinwiddie, Stephen

    2015-03-01

    We report on a 30-year-old woman diagnosed with moyamoya syndrome resulting from sickle cell disease who developed catatonia and was successfully treated with electroconvulsive therapy (ECT). Neuroimaging revealed severe tandem narrowing of the left internal carotid artery with diminished cerebral blood flow, moderate narrowing of the right supraclinoid aspect of the right internal carotid artery, and associated numerous lenticulostriate collaterals bilaterally, consistent with moyamoya. The patient presented with mutism; posturing; immobility; stupor; withdrawal; refusal to eat, drink, or speak; and staring, supporting a diagnosis of catatonia. It initially responded to a lorazepam challenge; however, a complicated hospital course and deterioration of the patient's condition, including septic shock, delirium, and continued catatonic symptoms, led to the pursuit of ECT to treat her symptoms. We discuss the risks involved with the administration of ECT in a patient with fragile cerebral vasculature and the successful treatment of catatonia in this patient without resultant stroke or cerebral hemorrhage.

  7. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

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    Mar Carrion Martin, Maria del [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Ruiz Santiago, Fernando, E-mail: ferruizsan@terra.e [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Pozuelo Calvo, Rocio [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Guzman Alvarez, Luis [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain)

    2010-07-15

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20{sup o} and 30{sup o} of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  8. 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.

  9. Divided attention deficits in patients with chronic fatigue syndrome.

    Science.gov (United States)

    Ross, S; Fantie, B; Straus, S F; Grafman, J

    2001-01-01

    Chronic fatigue syndrome (CFS) patients and controls were compared on a variety of mood state, personality, and neuropsychological measures, including memory, word finding, and attentional tasks that required participants to focus, sustain, or divide their attention, or to perform a combination of these functions. CFS patients demonstrated a selective deficit on 3 measures of divided attention. Their performance on the other neuropsychological tests of intelligence, fluency, and memory was no different than that of normal controls despite their reports of generally diminished cognitive capacity. There was an inverse relation between CFS patient fatigue severity and performance on 1 of the divided attention measures. Given these findings, it is probable that CFS patients will report more cognitive difficulties in real-life situations that cause them to divide their effort or rapidly reallocate cognitive resources between 2 response channels (vision and audition).

  10. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

    International Nuclear Information System (INIS)

    Mar Carrion Martin, Maria del; Ruiz Santiago, Fernando; Pozuelo Calvo, Rocio; Guzman Alvarez, Luis

    2010-01-01

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20 o and 30 o of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  11. Treatment of enamel hypoplasia in a patient with Usher syndrome.

    Science.gov (United States)

    de la Peña, Victor Alonso; Valea, Martín Caserío

    2011-08-01

    Usher syndrome (USH) is a group of autosomal recessive diseases characterized by the association of retinitis pigmentosa with sensorineural hearing loss. There are three types of USH. In addition, in people with USH and hypoplasia, the thickness of the enamel is reduced. The authors describe a case of a patient with USH type II associated with severe enamel hypoplasia and multiple unerupted teeth. The authors placed direct composite crowns and extracted severely affected and impacted molars. There is little information available on the oral pathologies of USH. Because the authors did not know how the patient's condition would progress and the patient still was growing, the authors treated the patient conservatively by placing direct composite crowns. The treatment has met both esthetic and functional expectations for 10 years. Copyright © 2011 American Dental Association. All rights reserved.

  12. Saliva C-reactive protein as a biomarker of metabolic syndrome in diabetic patients.

    Science.gov (United States)

    Dezayee, Zhian Mahmood Ibrahim; Al-Nimer, Marwan Salih Mohamad

    2016-01-01

    Human C-reactive protein (CRP) has been used in the risk assessment of coronary events. Human saliva mirrors the body's health and well-being and is noninvasive, easy to collect, and ideal for third-world countries as well as for large patient screening. This study aimed to screen the saliva CRP qualitatively in patients with diabetes (Type 1 and 2) taking in considerations, the diagnostic criteria of metabolic syndrome. Center for diabetes mellitus, prospective study. A total number of 50 Type 2 diabetes (T2D) patients, 25 Type 1 diabetes (T1D) patients, and 25 healthy subjects were recruited from the center for diabetes mellitus. Each patient was assessed clinically, and the anthropometric measures, glycemic status, and lipid profiles were determined. Stimulated salivary flow rate and saliva CRP were determined. All calculations analysis was made using Excel 2003 program for Windows. The results showed that the salivary flow rate in T1D was less than healthy subjects and T2D and CRP was found positive (6 mg/L) in 36% and 56% of patients with T1D and T2D, respectively. Saliva CRP was found to be related to the anthropometric measurement, blood pressure, and glycemic control. We conclude that saliva CRP may be used as a biomarker for metabolic syndrome and its value is obvious in T2D rather than in T1D.

  13. Interleukin-10 serum level in acute coronary syndrome patients

    Directory of Open Access Journals (Sweden)

    Idrus Alwi

    2009-09-01

    Full Text Available Aim To compare plasma IL-10 concentrations in patients with Acute Coronary Syndrome (ACS with those in Coronary Artery Disease (CAD.Methods ACS patients hospitalized in intensive coronary care unit (ICCU of Cipto Mangunkusumo Hospital/Faculty of Medicine University of Indonesia (CMH/FMUI, Persahabatan Hospital, MMC Hospital, and Medistra Hospital, Jakarta, between May 2005 and May 2006, were included in this study. The ambulatory CAD patients were taken as comparator. The serum IL-10 level was measured by immunoassay method, and compared by using Independent Student’s t-test. To investigate whether IL-10 serum level could predict ACS, the sensitivity and specificity of this parameter towards ACS in various IL-10 serum levels were calculated as well.Results In this observational study, as many as 146 subjects were analyzed, consisting of 84 ACS patients, and 62 coronary artery disease (CAD. The IL-10 level was higher in the group of ACS patients (7.37 pg/mL + 7.81, CI 95% 5.68-9.07 than that in CAD patients (1.59 pg/mL + 1.55, CI 95% 1.2-1.98. The optimal cut-off point for serum IL-10level is >1.95 pg/mL, with 79.76 % sensitivity and 77.42 % specificity.Conclusion The IL-10 level was higher in the ACS patients compared to that in CAD patients. Serum IL-10 measurement is a quite superior method to distinguish acute and stable condition, eventhough it is not as good as hsCRP for the same purpose. (Med J Indones 2009;18:165-9Key words: Interleukin-10, acute coronary syndrome

  14. Mitral valve surgery in the adult Marfan syndrome patient.

    Science.gov (United States)

    Bhudia, Sunil K; Troughton, Richard; Lam, Buu-Khanh; Rajeswaran, Jeevanantham; Mills, William R; Gillinov, A Marc; Griffin, Brian P; Blackstone, Eugene H; Lytle, Bruce W; Svensson, Lars G

    2006-03-01

    Because mitral valve dysfunction in adults with Marfan syndrome is poorly characterized, this study compares mitral valve pathophysiology and morphology with that of myxomatous mitral disease, documents types of mitral valve operations, and assesses long-term survival and durability of mitral valve surgery in Marfan patients. From May 1975 to June 2000, 27 adults with Marfan syndrome underwent mitral valve surgery. Their valve pathophysiology and morphology was compared with that of 119 patients with myxomatous mitral disease undergoing surgery from September 1995 to March 1999. Survival and repair durability were assessed at follow-up. Compared with myxomatous disease patients, Marfan patients had less posterior leaflet prolapse (44% versus 70%, p = 0.01), more bileaflet (44% versus 28%, p = 0.09) and anterior leaflet prolapse (11% versus 3%, p = 0.07), and presented earlier for surgery (age 41 +/- 12 years versus 57 +/- 13, p Marfan patients had longer and thinner leaflets. Mitral valve repair was performed less frequently in Marfan (16 of 27, 59%) than myxomatous disease patients (112 of 119, 94%). There were no hospital deaths; at 10 years, survival was 80% and freedom from reoperation 96%, with only 1 reoperation among the 16 repairs. Mitral valve pathophysiology and morphology differ between Marfan and myxomatous mitral valve diseases. Valve repair in Marfan patients is durable and gives acceptable long-term results, even in adults who present with advanced mitral valve pathology. With increasing use of the modified David reimplantation operation and sparing of the aortic valve, mitral valve repair is a greater imperative, particularly since we have not had to reoperate on any Marfan patients with reimplantations.

  15. Outcomes of Late Implantation in Usher Syndrome Patients.

    Science.gov (United States)

    Hoshino, Ana Cristina H; Echegoyen, Agustina; Goffi-Gomez, Maria Valéria Schmidt; Tsuji, Robinson Koji; Bento, Ricardo Ferreira

    2017-04-01

    Introduction  Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language. During adolescence, as they start losing vision, they are usually referred to cochlear implantation as a salvage for their new condition. Is a late implantation beneficial to these children? Objective  The objective of this study is to describe the outcomes of US patients who received cochlear implants at a later age. Methods  This is a retrospective study of ten patients diagnosed with US1. We collected pure-tone thresholds and speech perception tests from pre and one-year post implant. Results  Average age at implantation was 18.9 years (5-49). Aided average thresholds were 103 dB HL and 35 dB HL pre and one-year post implant, respectively. Speech perception was only possible to be measured in four patients preoperatively, who scored 13.3; 26.67; 46% vowels and 56% 4-choice. All patients except one had some kind of communication. Two were bilingual. After one year of using the device, seven patients were able to perform the speech tests (from four-choice to close set sentences) and three patients abandoned the use of the implant. Conclusion  We observed that detection of sounds can be achieved with late implantation, but speech recognition is only possible in patients with previous hearing stimulation, since it depends on the development of hearing skills and the maturation of the auditory pathways.

  16. Botulinum toxin therapy in Frey's syndrome: a retrospective study of 440 treatments in 100 patients.

    Science.gov (United States)

    Jansen, S; Jerowski, M; Ludwig, L; Fischer-Krall, E; Beutner, D; Grosheva, M

    2017-04-01

    Frey's syndrome is characterised as sweating, redness and warmth of the parotideal area and is often treated with botulinum toxin A. The objective of this retrospective study was to prove whether the toxin dosage and time-to-treatment intervals change after repeated botulinum toxin injections. The charts of patients, who were treated for Frey's syndrome during the last 16 years, were assessed. Three brands of botulinum toxin A were available for therapy. The Minor test was used to confirm the sweating before each treatment and to determine the toxin dosage. Constant amount of botulinum toxin was injected per cm 2 of the affected area. Patients consulted our department for the next treatment as soon as they felt disturbed by recurring sweating and when the sweating was objectively evident in the Minor test. Time intervals between treatments and injected toxin dosages were assessed. In total, 100 patients received 440 treatments in 16 years. Repeated injections, median 4.0, were carried out in 70.5% of patients. Median time interval to the first injection was 2.8 years. Median time interval between treatments was 12.0 months and showed to be steady (anova, P = .49, F = 1.01). Duration of effect of botulinum toxin on Frey's syndrome was long-lasting and stable with no significantly different time intervals between treatments. The extent of the sweating area did not vary significantly after repeated treatments and required a constant dose of botulinum toxin A. © 2016 John Wiley & Sons Ltd.

  17. Prognostic value of blood glucose levels in diabetic patients upon admission and its outcomes in patients with acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Adel Hamed Elbaih

    2017-01-01

    Full Text Available Background: Coronary heart disease (CHD is the main leading cause of morbidity and mortality in patients with diabetes mellitus. Hyperglycemia on admission was associated with a worse outcome for all patients admitted with ACS. Aim: To correlate the relationship between hyperglycemia with acute coronary syndrome and poor outcome. Methodology: Clinical evaluation of the patients were carried out on arrival to Emergency Department regarding: Initial assessment of patient general condition either stable or not through; ABCDE (air way and cervical spine control, breathing, circulation, neurological dysfunction and exposure. Then determine the characters and types of chest pain. Assess the condition of the patients either stable or unstable which will determine the needed investigations and plane of management. Results: the mortality was higher in patients with RBG more than 300 mg/dl (68.4 %, (10.5 % of the patients had ranged from 250 ─ < 300 mg/dl, and the patients had ranged from 200 ─ < 250 mg/dl were (10.5 %. The patients had ranged from 160 ─ < 200 mg/dl were (5.3 and there were (5.3 of the patients had ranged from 70 ─ < 160mg/dl. Conclusions: The data from this study have shown that hyperglycemia on admission was associated with a worse outcome for all patients admitted with ACS.

  18. 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

  19. Distinctive personality profiles of fibromyalgia and chronic fatigue syndrome patients

    Directory of Open Access Journals (Sweden)

    Jacob N. Ablin

    2016-09-01

    Full Text Available Objective The current study is an innovative exploratory investigation, aiming at identifying differences in personality profiles within Fibromyalgia Syndrome (FMS and Chronic Fatigue Syndrome (CFS patients. Method In total, 344 participants (309 female, 35 male reported suffering from FMS and/or CFS and consented to participate in the study. Participants were recruited at an Israeli FM/CFS patient meeting held in May 2013, and through an announcement posted on several social networks. Participants were asked to complete a research questionnaire, which included FMS criteria and severity scales, and measures of personality, emotional functioning, positivity, social support and subjective assessment of general health. In total, 204 participants completed the research questionnaire (40.7% attrition rate. Results A cluster analysis produced two distinct clusters, which differed significantly on psychological variables, but did not differ on demographic variables or illness severity. As compared to cluster number 2 (N = 107, participants classified into cluster number 1 (N = 97 showed a less adaptive pattern, with higher levels of Harm Avoidance and Alexithymia; higher prevalence of Type D personality; and lower levels of Persistence (PS, Reward dependence (RD, Cooperation, Self-directedness (SD, social support and positivity. Conclusion The significant pattern of results indicates at least two distinct personality profiles of FM and CFS patients. Findings from this research may help improve the evaluation and treatment of FM and CFS patients, based on each patient’s unique needs, psychological resources and weaknesses, as proposed by the current trend of personalized medicine.

  20. High frequency of chronic bacterial and non-inflammatory prostatitis in infertile patients with prostatitis syndrome plus irritable bowel syndrome.

    OpenAIRE

    Enzo Vicari; Sandro La Vignera; Domenico Arcoria; Rosita Condorelli; Lucia O Vicari; Roberto Castiglione; Andrea Mangiameli; Aldo E Calogero

    2011-01-01

    Background Although prostatitis syndrome (PS) and irritable bowel syndrome (IBS) are common disorders, information on the prevalence of IBS in infertile patients with PS is relatively scanty. Therefore, this study was undertaken to estimate the frequency of PS and IBS and to evaluate the prevalence of the various diagnostic categories of prostatitis. Methodology/Principal Findings This study enrolled 152 patients with PS, diagnosed by the NIH-Chronic Prostatitis Symptom Index (NIH-CPSI) in an...

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

    Science.gov (United States)

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

    2017-08-10

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

  2. Bilateral Ramsay Hunt syndrome in a diabetic patient

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    Goyal Amit

    2004-12-01

    Full Text Available Abstract Background Herpes zoster oticus accounts for about 10% cases of facial palsy, which is usually unilateral and complete and full recovery occurs in only about 20% of untreated patients. Bilateral herpes zoster oticus can sometime occur in immunocompromised patients, though incidence is very rare. Case presentation Diabetic male, 57 year old presented to us with bilateral facial palsy due to herpes zoster oticus. Patient was having bilateral mild to moderate sensorineural hearing loss. Patient was treated with appropriate metabolic control, anti-inflammatory drugs and intravenous acyclovir. Due to uncontrolled diabetes, glucocorticoids were not used in this patient. Significant improvement in hearing status and facial nerve functions were seen in this patient. Conclusions Herpes zoster causes severe infections in diabetic patients and can be a cause of bilateral facial palsy and bilateral Ramsay Hunt syndrome. Herpes zoster in diabetic patients should be treated with appropriate metabolic control, NSAIDS and intravenous acyclovir, which we feel should be started at the earliest. Glucocorticoids should be avoided in diabetic patients.

  3. Risk of Hand Syndromes in Patients With Diabetes Mellitus

    Science.gov (United States)

    Chen, Lu-Hsuan; Li, Chung-Yi; Kuo, Li-Chieh; Wang, Liang-Yi; Kuo, Ken N.; Jou, I-Ming; Hou, Wen-Hsuan

    2015-01-01

    Abstract The aim of this study was to assess the overall and cause-specific incidences of diabetic hand syndromes (DHS) in patients with diabetes mellitus (DM) by using age and sex stratifications. The DM and control cohorts comprised 606,152 patients with DM and 609,970 age- and sex-matched subjects, respectively, who were followed up from 2000 to 2008. We estimated the incidence densities (IDs) of overall and cause-specific DHS, namely carpal tunnel syndrome (CTS), stenosing flexor tenosynovitis (SFT), limited joint mobility (LJM), and Dupuytren disease (DD), and calculated the hazard ratios (HRs) of DHS in relation to DM by using a Cox proportional hazards model with adjustment for potential confounders. Over a 9-year period, 51,207 patients with DM (8.45%) and 39,153 matched controls (6.42%) sought ambulatory care visits for various DHS, with an ID of 117.7 and 80.7 per 10,000 person-years, respectively. The highest cause-specific ID was observed for CTS, followed by SFT, LJM, and DD, regardless of the diabetic status. After adjustment for potential confounders, patients with DM had a significantly high HR of overall DHS (1.51, 95% confidence interval [CI] = 1.48–1.53). Men and women aged the highest HR (2.64, 95% CI = 2.15–3.24 and 2.99, 95% CI = 2.55–3.50, respectively). Cause-specific analyses revealed that DM was more strongly associated with SFT (HR = 1.90, 95% CI = 1.86–1.95) and DD (HR = 1.83, 95% CI = 1.39–2.39) than with CTS (HR = 1.31, 95% CI = 1.28–1.34) and LJM (HR = 1.24, 95% CI = 1.13–1.35). Men and younger patients with DM have the highest risk of DHS. Certain hand syndromes, such as SFT and DD, were more strongly associated with DM than with other syndromes and require the attention of clinicians. PMID:26469895

  4. Oropharyngeal Dysphagia in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Schindler, Antonio; Mozzanica, Francesco; Sonzini, Giulia; Plebani, Daniela; Urbani, Emanuele; Pecis, Marica; Montano, Nicola

    2014-02-01

    Although previous studies demonstrated that patients with obstructive sleep apnea syndrome (OSAS) may present subclinical manifestations of dysphagia, in not one were different textures and volumes systematically studied. The aim of this study was to analyze the signs and symptoms of oropharyngeal dysphagia using fiberoptic endoscopic evaluation of swallowing (FEES) with boluses of different textures and volumes in a large cohort of patients with OSAS. A total of 72 OSAS patients without symptoms of dysphagia were enrolled. The cohort was divided in two groups: 30 patients with moderate OSAS and 42 patients with severe OSAS. Each patient underwent a FEES examination using 5, 10 and 20 ml of liquids and semisolids, and solids. Spillage, penetration, aspiration, retention, and piecemeal deglutition were considered. The penetration-aspiration scale (PAS), pooling score (PS), and dysphagia outcome and severity scale (DOSS) were used for quantitative analysis. Each patient completed the SWAL-QOL questionnaire. Forty-six patients (64 %) presented spillage, 20 (28 %) piecemeal deglutition, 26 (36 %) penetration, and 30 (44 %) retention. No differences were found in the PAS, PS, and DOSS scores between patients with moderate and severe OSAS. Patients with severe OSAS scored higher General Burden and Food selection subscales of the SWAL-QOL. Depending on the DOSS score, the cohort of patients was divided into those with and those without signs of dysphagia. Patients with signs of dysphagia scored lower in the General Burden and Symptoms subscales of the SWAL-QOL. OSAS patients show signs of swallowing impairment in about half of the population; clinicians involved in the management of these patients should include questions on swallowing when taking the medical history.

  5. [Determinants of health related quality of life in women with polycystic ovary syndrome].

    Science.gov (United States)

    Pekhlivanov, B; Kolarov, G; Kavŭrdzhikova, S; Stoĭkov, S

    2006-01-01

    Aim of the study is to define the principal causes that determine the quality of life of women with PCOS. This is a multicentric study, including 100 women with PCOS. All women have received a Bulgarian version of Polycystic Ovary Syndrome Questionnaire (PCOSQ). The forms were filled in anonymously and mentioned the age, weight and height of the patient, as well as the marital status and ethnicity. The highest negative influence over the quality of life is connected with the issues of hirsutism, overweight and infertility. In overweight women with PCOS the quality of life is much lower than that of women with the syndrome but with normal weight. The lower quality of life concerns almost all domains of the questionnaire, except the index of menstruation. The scale of emotions is definitely low in women with overweight. There is a difference in the score of values for certain domains according to the age of the women. At the age below 25 the principal cause for lower quality of life is hisrutism, while at the age above 25, the low quality of life is mainly determined by infertility. The results of our study confirm the negative impact of PCOS over the quality of life. They give a definite answer to the question of choosing an appropriate aim in the treatment of each and every group of women with PCOS according to their age and weight. The results could be used to define a factor, which has the most negative impact upon quality of life and therefore lead the treatment in the best possible direction.

  6. Interventional prevention of ovarian hyperstimulation syndrome in infertility patients with polycystic ovaries syndrome

    International Nuclear Information System (INIS)

    Liang Weixiang; Chen Zhiyi; Yuan Wenlin; Chen Xia; Cai Kuan; Wang Weiqun; Zhu Junlin

    2008-01-01

    Objective: To assess the efficacy of aspiration of small follicles(ASF) guided by trans-vaginal ultra- sound (TVS) in preventing moderate and severe ovarian hyperstimulation syndrome (OHSS) in women with polycystic ovaries syndrome (PCOS). Methods: ASF was undertaken by trans-vaginally during artificial cycles in 25 women with PCOS who had early signs of OHSS during the early period of the cycle according to the ovaries and follicles detected by TVS. Small follicles(≤ 12 mm in diameter) were aspirated at the early period of gonadotropin therapy according to the follicle testing, three or less excellent follicles were reserve. All the patients were followed up for symptoms and signs of OHSS. Results: None of the patients developed moderate or severe OHSS. Successful intrauterine pregnancy were found in 7 cases (28%). Conclusion: ASF after gonadotropin injections is of significance to prevent moderate and severe OHSS and obtain a higher pregnancy rate in susceptible patients with PCOS during the early period of the cycles. Time of ASF is the main factor to prevent OHSS. TVS may be an important tool in the detection of early period of follicles development. (authors)

  7. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S. M.; Lombardi, M. P.; van Essen, A. J.; Wakeling, E. L.; Castle, B.; Temple, I. K.; Kumar, V. K. A.; Writzl, K.; Hennekam, Raoul C. M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with

  8. Novel mutations in the USH1C gene in Usher syndrome patients.

    Science.gov (United States)

    Aparisi, María José; García-García, Gema; Jaijo, Teresa; Rodrigo, Regina; Graziano, Claudio; Seri, Marco; Simsek, Tulay; Simsek, Enver; Bernal, Sara; Baiget, Montserrat; Pérez-Garrigues, Herminio; Aller, Elena; Millán, José María

    2010-12-31

    Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population. Thirty-three patients were screened for mutations in the USH1C gene by direct sequencing. Some had already been screened for mutations in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found. Two novel mutations were found in the USH1C gene: a non-sense mutation (p.C224X) and a frame-shift mutation (p.D124TfsX7). These mutations were found in a homozygous state in two unrelated USH1 patients. In the present study, we detected two novel pathogenic mutations in the USH1C gene. Our results suggest that mutations in USH1C are responsible for 1.5% of USH1 disease in patients of Spanish origin (considering the total cohort of 65 Spanish USH1 patients since 2005), indicating that USH1C is a rare form of USH in this population.

  9. Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients.

    Science.gov (United States)

    Peres, Paulo; Carvalho, Antônio C; Perez, Ana Beatriz A; Medeiros, Wladimir M

    2016-10-01

    Marfan syndrome patients present important cardiac structural changes, ventricular dysfunction, and electrocardiographic changes. An abnormal heart rate response during or after exercise is an independent predictor of mortality and autonomic dysfunction. The aim of the present study was to compare heart rate recovery and chronotropic response obtained by cardiac reserve in patients with Marfan syndrome subjected to submaximal exercise. A total of 12 patients on β-blocker therapy and 13 off β-blocker therapy were compared with 12 healthy controls. They were subjected to submaximal exercise with lactate measurements. The heart rate recovery was obtained in the first minute of recovery and corrected for cardiac reserve and peak lactate concentration. Peak heart rate (141±16 versus 155±17 versus 174±8 bpm; p=0.001), heart rate reserve (58.7±9.4 versus 67.6±14.3 versus 82.6±4.8 bpm; p=0.001), heart rate recovery (22±6 versus 22±8 versus 34±9 bpm; p=0.001), and heart rate recovery/lactate (3±1 versus 3±1 versus 5±1 bpm/mmol/L; p=0.003) were different between Marfan groups and controls, respectively. All the patients with Marfan syndrome had heart rate recovery values below the mean observed in the control group. The absolute values of heart rate recovery were strongly correlated with the heart rate reserve (r=0.76; p=0.001). Marfan syndrome patients have reduced heart rate recovery and chronotropic deficit after submaximal exercise, and the chronotropic deficit is a strong determinant of heart rate recovery. These changes are suggestive of autonomic dysfunction.

  10. Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome

    Directory of Open Access Journals (Sweden)

    Derya Berk

    2013-09-01

    Full Text Available Background: Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders. Case Report: We present the anaesthetic management of a forty day-old boy with Pseudo-TORCH syndrome during magnetic resonance imaging. Microcephaly, growth failure, high palate and bilateral rales in the lungs were detected in pre-anaesthetic physical examination. The peripheral oxygen saturation was 88-89% in room-air and was 95% in a hood with 5 L/min oxygen. We planned general anaesthesia to ensure immobility during magnetic resonance imaging. After standard monitoring, general anaesthesia was induced with 8% sevoflurane in 100% O2. After an adequate depth of anaesthesia was reached, we inserted a supraglottic airway device to avoid intubation without the use of a muscle relaxant. Conclusion: In patients with Pseudo-TORCH syndrome, the perioperative anaesthetic risk was increased. We believe that using a supraglottic airway device to secure the airway is less invasive than intubation, and can be performed without the need of muscle relaxants.

  11. Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome.

    Science.gov (United States)

    Berk, Derya; Kuş, Alparslan; Sahin, Tülay; Solak, Mine; Toker, Kamil

    2013-09-01

    Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders. We present the anaesthetic management of a forty day-old boy with Pseudo-TORCH syndrome during magnetic resonance imaging. Microcephaly, growth failure, high palate and bilateral rales in the lungs were detected in pre-anaesthetic physical examination. The peripheral oxygen saturation was 88-89% in room-air and was 95% in a hood with 5 L/min oxygen. We planned general anaesthesia to ensure immobility during magnetic resonance imaging. After standard monitoring, general anaesthesia was induced with 8% sevoflurane in 100% O2. After an adequate depth of anaesthesia was reached, we inserted a supraglottic airway device to avoid intubation without the use of a muscle relaxant. In patients with Pseudo-TORCH syndrome, the perioperative anaesthetic risk was increased. We believe that using a supraglottic airway device to secure the airway is less invasive than intubation, and can be performed without the need of muscle relaxants.

  12. Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

    Science.gov (United States)

    Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

    2013-01-01

    A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

  13. Cephalohematoma in a Patient with Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Brent M Felton

    2013-09-01

    Full Text Available Ehlers-Danlos syndrome is a rarely encountered connective tissue disorder characterized by skin hyper-elasticity, joint hyper-flexibility, and vasculature fragility. We report a 41-year-old female presenting with scalp swelling following minor head trauma. The patient presented with a large cephalohematoma that despite compressive measures and Factor IX administration continued to progress, necessitating transfer for definitive surgical intervention. The patient underwent surgical evacuation of approximately 1 liter of blood, followed by drain placement and compression dressing. This case underscores the importance for emergency physicians to recognize the potential vascular catastrophes these patients may present with following even minor injury. [West J Emerg Med. 2013;14(5:419-420.

  14. Administration of Anesthesia in a Patient with Allgrove Syndrome

    Directory of Open Access Journals (Sweden)

    Ayse B. Ozer

    2012-01-01

    Full Text Available The aim of the present paper is to report the anesthesia administration to a patient who was planned to undergo Heller myotomy for achalasia. There wasnot property in the patient whom allgrove syndrome was excepted any steroid treatment in preoperative period. The night before the operation 18 mg of prednisolone was administered intravenously. Induction of anesthesia was performed with thiopental sodium, vecuronium and fentanyl and the patient received endotracheal intubation. Eyes were taped closed and protected with ointment during surgery. Maintenance of anesthesia was achieved with 2% sevoflurane concentration in 50% O2-50% N2O. 25 mg of prednisolone was infused preoperatively, and intervention with insulin treatment was initiated when blood glucose level rose to 18 mmol/L at 2 hours. Safe anesthesia can be achieved by observing the preoperative development of tracheal aspiration, adrenal insufficiency and, autonomic dysfunction carefully and maintaining eye protection.

  15. Suicidal Behavior in a Patient with Burning Mouth Syndrome

    Directory of Open Access Journals (Sweden)

    Konstantinos Kontoangelos

    2014-01-01

    Full Text Available Introduction. Chronic pain of the oral cavity is a long-term condition and like all other types of chronic pain is associated with numerous comorbidities such as depression or anxiety. Case Presentation. This is a case of a 93-year-old patient suffering from chronic oral cavity pain who repeatedly stabbed his palate due to ongoing local pain, over the last few months, which he could not further tolerate. The patient was suffering from depression and also a diagnosis of “burning mouth syndrome” (BMS was made. Discussion. Burning mouth syndrome (BMS is characterized by a burning sensation in the tongue or other oral sites. BMS has high psychiatric comorbidity but can occur in the absence of psychiatric diagnosis. Patients with multiple forms of pain must be considered as potential candidates for underdiagnosed depression (major and suicidal thoughts.

  16. Is synaesthesia more common in patients with Asperger syndrome?

    Directory of Open Access Journals (Sweden)

    Janina eNeufeld

    2013-12-01

    Full Text Available There is increasing evidence from case reports that synaesthesia is more common in individuals with autism spectrum conditions (ASC. Further, genes related to synaesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synaesthesia is more common in ASC patients is missing.The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS using questionnaires and standard consistency tests in order to classify them as grapheme-colour synaesthetes. The results indicate that there are indeed many more grapheme-colour synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synaesthesia as well as altered sensory processing in autism.

  17. Management of Diabetes Mellitus in Patients with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Miulescu Rucsandra Dănciulescu

    2014-06-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is a human immune system disease characterized by increased susceptibility to opportunistic infections, certain cancers and neurological disorders. The syndrome is caused by the human immunodeficiency virus (HIV that is transmitted through blood or blood products, sexual contact or contaminated hypodermic needles. Antiretroviral treatment reduces the mortality and the morbidity of HIV infection but is increasingly reported to be associated with increasing reports of metabolic abnormalities. The prevalence and incidence of diabetes mellitus in patients on antiretroviral therapy is high. Recently, a joint panel of American Diabetes Association (ADA and European Association for the Study of Diabetes (EASD experts updated the treatment recommendations for type 2 diabetes (T2DM in a consensus statement which provides guidance to health care providers. The ADA and EASD consensus statement concur that intervention in T2DM should be early, intensive, and uncompromisingly focused on maintaining glycemic levels as close as possible to the nondiabetic range. Intensive glucose management has been shown to reduce microvascular complications of diabetes but no significant benefits on cardiovascular diseases. Patients with diabetes have a high risk for cardiovascular disease and the treatment of diabetes should emphasize reduction of the cardiovascular factors risk. The treatment of diabetes mellitus in AIDS patients often involves polypharmacy, which increases the risk of suboptimal adherence

  18. [Mutation analysis of seven patients with Waardenburg syndrome].

    Science.gov (United States)

    Hao, Ziqi; Zhou, Yongan; Li, Pengli; Zhang, Quanbin; Li, Jiao; Wang, Pengfei; Li, Xiangshao; Feng, Yong

    2016-06-01

    To perform genetic analysis for 7 patients with Waardenburg syndrome. Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful. Genetic mutations have been detected in all patients with Waardenburg syndrome.

  19. Atorvastatin reduces malondialdehyde concentrations in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Sathyapalan, Thozhukat; Shepherd, John; Coady, Anne-Marie; Kilpatrick, Eric S; Atkin, Stephen L

    2012-11-01

    It has been shown that there is an increase in oxidative stress in polycystic ovary syndrome (PCOS). Statins are considered to have a pleiotropic effect other than their lipid-lowering effect. These effects may be mediated in part by reducing oxidative stress. This randomized, double-blind, placebo-controlled study was conducted to assess the effect of atorvastatin on serum malondialdehyde (MDA) concentrations as a marker of oxidative stress in patients with PCOS. Forty medication-naïve patients with PCOS were randomized to either atorvastatin 20 mg daily or placebo for 3 months. A 3-month extension study for both groups of patients was undertaken with metformin 1500 mg daily after completing initial 3 months of atorvastatin or placebo. There was a significant decrease of MDA concentrations with atorvastatin [mean (sem)] [0.29 (0.04) vs. 0.25 (0.02) μmol/liter; P polycystic ovary syndrome that was independently predicted by changes in testosterone, 25OHD, and high-sensitivity C-reactive protein.

  20. Airway inflammation in patients affected by obstructive sleep apnea syndrome.

    Science.gov (United States)

    Salerno, F G; Carpagnano, E; Guido, P; Bonsignore, M R; Roberti, A; Aliani, M; Vignola, A M; Spanevello, A

    2004-01-01

    Obstructive sleep apnea syndrome (OSAS) has been shown to be associated to upper airway inflammation. The object of the present study was to establish the presence of bronchial inflammation in OSAS subjects. In 16 subjects affected by OSAS, and in 14 healthy volunteers, airway inflammation was detected by the cellular analysis of the induced sputum. OSAS patients, as compared to control subjects, showed a higher percentage of neutrophils (66.7+/-18.9 vs. 25.8+/-15.6) (Pbronchial inflammation characterized by a significant increase in neutrophils.

  1. Pharmacological Treatment of Obesity in Patients with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Hassan Kahal

    2011-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is a common disorder affecting women of reproductive age and it is associated with increased cardiovascular risk. Obesity plays an important role in the pathogenesis of PCOS, and the majority of patients with PCOS are obese. Over the last 20 years, the prevalence of obesity has dramatically increased, with probable associated increase in PCOS. Weight reduction plays an integral part in the management of women with PCOS. In this paper, current available weight reduction therapies in the management of PCOS are discussed.

  2. Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome).

    Science.gov (United States)

    Haeusler, G; Guchev, Z; Köhler, I; Schober, E; Haas, O; Frisch, H

    1993-01-01

    Two boys are presented with the clinical features of cerebral gigantism and chromosomal variants which have not been described so far in this syndrome. In the first boy a de novo pericentric inversion of chromosome Y was found, the karyotypes of all other investigated family members were normal. The patient had an obstructive hypertrophic cardiomyopathy and atrial septal defect type II. The second boy had inherited pericentric inversion of the heterochromatic region of chromosome 9 from his mother. This chromosome 9 variant was also found in his sister who had a similar phenotype but without gigantism. Endocrine evaluation demonstrated normal results in both boys. The intellectual achievement in both cases was average.

  3. RAEDER PARATRIGEMINAL SYNDROME IN A PATIENT WITH A MASS LESION IN THE MAXILLARY SINUS

    Directory of Open Access Journals (Sweden)

    Vyara Kirkova

    2010-12-01

    Full Text Available Raeder paratrigeminal syndrome is a rare syndrome, characterized by severe unilateral facial pain and headache in the distribution of the ophthalmic division of the trigeminal nerve in combination with ipsilateral oculosympathetic palsy or Horner syndrome. We describe a case of a 65-year-old male patient with a large tumor in the right maxillary sinus who presented with the rare Raeder syndrome.

  4. Morbidity and mortality in the antiphospholipid syndrome during a 5-year period: a multicentre prospective study of 1000 patients

    DEFF Research Database (Denmark)

    Cervera, R; Khamashta, M A; Shoenfeld, Y

    2008-01-01

    OBJECTIVES: To identify the main causes of morbidity and mortality in patients with antiphospholipid syndrome (APS) during a 5-year period and to determine clinical and immunological parameters with prognostic significance. METHODS: The clinical and immunological features of a cohort of 1000 pati...

  5. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Vorstman, Jacob A S; Breetvelt, Elemi J.; Duijff, Sasja N.; Eliez, Stephan; Schneider, Maude; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Shashi, Vandana; Hooper, Stephen R.; Chow, Eva W C; Fung, Wai Lun Alan; Butcher, Nancy J.; Young, Donald A.; McDonald-McGinn, Donna M.; Vogels, Annick; Van Amelsvoort, Therese; Gothelf, Doron; Weinberger, Ronnie; Weizman, Abraham; Klaassen, Petra W J; Koops, Sanne; Kates, Wendy R.; Antshel, Kevin M.; Simon, Tony J.; Ousley, Opal Y.; Swillen, Ann; Gur, Raquel E.; Bearden, Carrie E.; Kahn, René S.; Bassett, Anne S.; Emanuel, Beverly S.; Zackai, Elaine H.; Kushan, Leila; Fremont, Wanda; Schoch, Kelly; Stoddard, Joel; Cubells, Joseph; Fu, Fiona; Campbell, Linda E.; Fritsch, Rosemarie; Vergaelen, Elfi; Neeleman, Marjolein; Boot, Erik; Debbané, Martin; Philip, Nicole; Green, Tamar; Van DenBree, Marianne B M; Murphy, Declan; Canyelles, Jaume Morey; Arango, Celso; Murphy, Kieran C.; Pontillo, Maria

    2015-01-01

    Importance: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.Objective: To determine whether

  6. Population pharmacokinetics of ticagrelor in patients with acute coronary syndromes.

    Science.gov (United States)

    Li, Jianguo; Tang, Weifeng; Storey, Robert F; Husted, Steen; Teng, Renli

    2016-09-01

    Ticagrelor is an orally administered antiplatelet agent used to reduce thrombotic events in patients with acute coronary syndromes. Data from two studies in patients with acute coronary syndromes with large amounts of pharmacokinetic (PK) data (phase IIb DISPERSE-2 study (n = 609)); phase III PLATO PK substudy (n = 6,381)), along with non-linear mixed effects modeling software, were used to develop population PK models for ticagrelor and its metabolite, AR-C124910XX, and to evaluate the impact of demographic and clinical factors on the PK of ticagrelor and AR-C124910XX. 32 covariates relating to disease history, biomarkers, clinical chemistry, and concomitant medications were assessed. A one-compartment model with population mean PK parameters of firstorder absorption rate constant (0.67/h), apparent systemic clearance (14 L/h), and apparent volume of distribution (221 L) was shown to best describe the PK profile of ticagrelor. Patients co-administered moderate CYP3A inducers or inhibitors increased (by 110%, 95% confidence interval (CI), 52 - 192%) or decreased (by 64%, 95% CI, 39 - 73%) apparent ticagrelor clearance, respectively, while habitual smoking decreased apparent ticagrelor clearance by 22% (95% CI, 19 - 25%). Ticagrelor bioavailability was 21% (95% CI, 19 - 22%) lower at treatment initiation (visit 1) versus subsequent visits. Compared with Caucasian patients, ticagrelor bioavailability was 39% (95% CI, 33 - 46%) higher in Asian patients and 18% (95% CI, 6 - 28%) lower in Black patients. In the current analyses, the population PK models developed for ticagrelor and AR-C124910XX described the data obtained in the DISPERSE-2 and PLATO studies well, and were consistent with previous phase I PK studies.

  7. Ambulatory (24 h) blood pressure and arterial stiffness measurement in Marfan syndrome patients: a case control feasibility and pilot study.

    Science.gov (United States)

    Hillebrand, Matthias; Nouri, Ghazaleh; Hametner, Bernhard; Parragh, Stephanie; Köster, Jelena; Mortensen, Kai; Schwarz, Achim; von Kodolitsch, Yskert; Wassertheurer, Siegfried

    2016-05-06

    The aim of this work is the investigation of measures of ambulatory brachial and aortic blood pressure and indices of arterial stiffness and aortic wave reflection in Marfan patients. A case-control study was conducted including patients with diagnosed Marfan syndrome following Ghent2 nosology and healthy controls matched for sex, age and daytime brachial systolic blood pressure. For each subject a 24 h ambulatory blood pressure and 24 h pulse wave analysis measurement was performed. All parameters showed a circadian pattern whereby pressure dipping was more pronounced in Marfan patients. During daytime only Marfan patients with aortic root surgery showed increased pulse wave velocity. In contrast, various nighttime measurements, wave reflection determinants and circadian patterns showed a significant difference. The findings of our study provide evidence that ambulatory measurement of arterial stiffness parameters is feasible and that these determinants are significantly different in Marfan syndrome patients compared to controls in particular at nighttime. Further investigation is therefore indicated.

  8. Is isoproterenol really required during electrophysiological study in patients with Wolff-Parkinson-White syndrome?

    Science.gov (United States)

    Pauriah, Maheshwar; Cismaru, Gabriel; Sellal, Jean-Marc; De Chillou, Christian; Brembilla-Perrot, Béatrice

    2013-01-01

    We have studied the results of electrophysiological study (EPS) in patients with Wolff-Parkinson-White syndrome (WPW) and spontaneous adverse clinical presentation and determined whether isoproterenol added incremental value. EPS was performed in 63 patients with WPW and adverse clinical presentation at baseline. EPS was repeated after infusion of isoproterenol in 37 patients, including 25 without criteria for a malignant form at baseline. Atrioventricular orthodromic tachycardia was induced 44%, antidromic tachycardia in 11%, atrial fibrillation (AF) in 68% at baseline. At baseline EPS, criteria for a malignant form (AF induction and shortest CL <250 ms) were noted in 60%; tachycardia was not inducible in 16%. All the patients met the criteria for a malignant form after isoproterenol. EPS at baseline missed 16% of patients at risk of life-threatening arrhythmias who had no inducible tachyarrhythmia and 40% without classical criteria for malignant form. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Universality of physicians' burnout syndrome as a result of experiencing difficulty in relationship with patients.

    Science.gov (United States)

    Sablik, Zbigniew; Samborska-Sablik, Anna; Drożdż, Jarosław

    2013-06-20

    The aim of our work is to present the universality of burnout syndrome among physicians worldwide and to demonstrate selected aspects of the relationship between patients and doctors as a common factor predisposing to burnout. We looked up 20 original pieces of research from the Medline database published in the last 10 years to determine the prevalence of burnout among doctors in different countries. In all quoted works a remarkable percentage of doctors of interventional and non-interventional specialties suffered burnout. Because it is the relationship with patients that constitutes a key denominator for their work, in the discussion we have exposed an important aspect of it, destructive patient games, described on the basis of transactional analysis. Since universal burnout causes a deterioration of doctors' service, for the optimal good of the patient to survive preservation of the doctor's well-being in the patient-doctor relationship is needed everywhere.

  10. Multidisciplinary approach for management of dentofacial deformity of a patient with goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Usha Shenoy

    2018-01-01

    Full Text Available Goldenhar syndrome is a rare congenital craniofacial deformity, associated with anomalies of the head and spinal cord. The syndrome may affect the eyes, ears, face, and mouth and can also differ greatly in the degree of seriousness. The precise etiology of this syndrome is still not identified. Adult patients with dentoskeletal deformities usually need orthodontic and surgical corrections, requiring an integrated approach, patient cooperation, and systemized treatment planning. A poor facial appearance is often the patient's chief complaint, but it may be accompanied by functional problems, temporomandibular joints disorders, or psychosocial handicaps. The present case report highlights the orthodontic and surgical management of a patient with Goldenhar syndrome.

  11. Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Kristen M. Drescher

    2010-01-01

    Full Text Available High levels of microsatellite instability (MSI-high are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  12. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients.

    Science.gov (United States)

    Drescher, Kristen M; Sharma, Poonam; Lynch, Henry T

    2010-01-01

    High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  13. Rebound Syndrome in Patients With Multiple Sclerosis After Cessation of Fingolimod Treatment.

    Science.gov (United States)

    Hatcher, Stacy Ellen; Waubant, Emmanuelle; Nourbakhsh, Bardia; Crabtree-Hartman, Elizabeth; Graves, Jennifer S

    2016-07-01

    increases in new or enhancing lesions seen on magnetic resonance imaging evidenced by a median (range) increase of 9 (0->30) new gadolinium-enhancing lesions and a median (range) of 9 (0->30) new T2 lesions. New lesion development persisted for 3 to 6 months despite treatment with corticosteroids (n = 3) and initiation of B-cell depleting therapy (n = 2). In addition, 11 patients were identified through literature review reported as having severe relapses consistent with a rebound syndrome and similar features to our 5 cases. These cases provide evidence for a fingolimod rebound syndrome at a clinically relevant frequency, highlighting the need to determine the best methods for sequencing or discontinuing MS therapies. A large prospective registry or population-based study would be helpful to confirm this rebound phenomenon and to determine contributing factors, including immune biomarkers, that increase risk for this syndrome.

  14. Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.

    Science.gov (United States)

    Hitch, Kelly; Joseph, Galen; Guiltinan, Jenna; Kianmahd, Jessica; Youngblom, Janey; Blanco, Amie

    2014-08-01

    Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results. Analyses of interview results found that nearly all participants believed that the benefits of receiving all possible results generated from WES outweighed the undesirable effects. The majority of participants conveyed that relative to coping with a cancer diagnosis, information generated from WES would be manageable. Importantly, participants' experience with Lynch syndrome influenced their notions of genetic determinism, tolerance for uncertain results, and family communication plans. Participants would prefer to receive WES results in person from a genetic counselor or medical geneticist so that an expert could help explain the meaning and implications of the potentially large quantity and range of complicated results. These results underscore the need to study various populations with regard to the clinical use of WES in order to effectively and empathetically communicate the possible implications of this new technology and return results.

  15. Gestational, perinatal and family findings of patients with Patau syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-12-01

    Full Text Available OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS. METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%. Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%; multiparous mothers (92.6%; vaginal delivery (77%; preterm birth (34.6%; birth weight <2500g (33.3%, and Apgar scores <7 in the 1st (75% and in the 5th minute (42.9%. About half of them (53% died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  16. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  17. Health anxiety and depression in patients with fibromyalgia syndrome.

    Science.gov (United States)

    Uçar, Mehmet; Sarp, Ümit; Karaaslan, Özgül; Gül, Ali Irfan; Tanik, Nermin; Arik, Hasan Onur

    2015-10-01

    To investigate health anxiety and depressive symptoms in patients with fibromyalgia syndrome (FMS). Patients with FMS and healthy control subjects were recruited. All participants completed the Health Anxiety Inventory Short Form (HAI-SF) and Beck Depression Inventory (BDI). Pain was assessed in patients with FMS using the Fibromyalgia Impact Questionnaire (FIQ) and Visual Analogue Scale (VAS). This study involved 95 patients with FMS (15 male) and 95 healthy controls (17 male). Mean ± SD HAI-SF and BDI scores were significantly higher in patients with FMS = than in controls=. HAI-SF scores were 23.50 ± 10.78 and 9.38 ± 4.24 respectively; BDI scores were 18.64 ± 10.11 and 6.21 ± 4.05 respectively. There were highly significant correlations between FIQ and HAI-SF, FIQ and BDI, and HAI-SF and BDI. Patients with FMS had significantly higher HAI-SF and BDI scores than healthy controls. Psychiatric support is essential for patients with FMS. Treatment should include biological, psychological and social approaches. © The Author(s) 2015.

  18. Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome

    Directory of Open Access Journals (Sweden)

    Alice D. Chang

    2006-01-01

    Full Text Available We studied a 14 year-old boy with partial DiGeorge syndrome (DGS, status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT. Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF, and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF. This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.

  19. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients

    International Nuclear Information System (INIS)

    Sanderson, Evelyn; Newman, Vanessa; Haigh, Susan F.; Sidhu, Paul S.; Baker, Alastair

    2002-01-01

    Background: Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective: To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods: Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results: Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (P<0.0005). In the patients with Alagille syndrome, incomplete fusion of the anterior arch, most frequently at the D6-9 level, accounted for 123 of 126 anomalies. Multiple vertebral anomalies occurred in 48% of patients with Alagille syndrome (mean 2.5 anomalies). Vertebral anomalies were misreported in 54% of cases of Alagille syndrome. Conclusions: Vertebral anomalies are significantly more common in Alagille syndrome than in chronic cholestasis of other causes and are frequently overlooked. Reporting should be undertaken by a radiologist familiar with the appearance and location of these vertebral anomalies. (orig.)

  20. Investigation of Demodex folliculorum frequency in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Eser, Ayla; Erpolat, Seval; Kaygusuz, Ikbal; Balci, Hatice; Kosus, Aydin

    2017-01-01

    Background: Demodex mites are acari that reside in the pilosebaceous unit of the skin and have been associated with skin disorders. The objective of this study was to investigate the prevalence of Demodex folliculorum (D. folliculorum) mites in polycystic ovary syndrome patients as well as to examine the relationship between Demodex infestation and the presence of acne and oily or dry skin types in polycystic ovary syndrome patients. 41 polycystic ovary syndrome patients and 47 non-polycystic ovary syndrome control subjects were enrolled in the study. polycystic ovary syndrome was diagnosed according to the revised 2003 ESHRE/ASRM polycystic ovary syndrome Consensus Workshop Group diagnostic criteria. Microscopic examination of D. folliculorum mites was carried out by standardized skin surface biopsy. The result was considered positive when there were more than 5 mites per cm2. D. folliculorum was positive in 53.7% of the polycystic ovary syndrome patients and 31.9% of the non-polycystic ovary syndrome group (p=0.052). Demodex positivity was significantly associated with acne (p=0.003) and oily skin (p=0.005) in the polycystic ovary syndrome patients but not in the controls. Our study is limited by the relatively small number of subjects and the observational nature of the study design. Demodex mites might have a role in acne pathogenesis in patients with polycystic ovary syndrome. Anti-Demodex treatment may increase the response to treatment of acne. Further studies are indicated.

  1. A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

    Science.gov (United States)

    Napier, Kathryn R; Tones, Megan; Simons, Chloe; Heussler, Helen; Hunter, Adam A; Cross, Meagan; Bellgard, Matthew I

    2017-08-01

    Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.

  2. Bronchial hyperresponsiveness in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Bulcun, Emel; Ekici, Mehmet; Ekici, Aydanur; Tireli, Gökhan; Karakoç, Tülay; Şentürk, Erol; Altınkaya, Volkan

    2013-01-01

    The relationship between obstructive sleep apnea syndrome (OSAS) and bronchial hyperresponsiveness (BHR) is not well known. In this study, we investigated the association between BHR and disease severity in patients with OSAS. Fourty seven (37 male/10 female) OSAS patients admitted with polysomnography enrolled to the study. Histamine bronchial challenge test was performed and body mass index (BMI, kg/m2) was calculated. Presence of BHR was diagnosed as positivity of bronchial provocative test (BPT) (PD values ≤ 16 mg/mL). Patients were questioned with Epworth sleepiness scale (ESS). Histamine bronchial challenge test was positive in 21 of 47 patients. There were significant negative correlations between PD 20 value and AHI (r= -0.47, p= 0.03), BMI (r= -0.45, p= 0.03), and ESS score (r= -0.45, p= 0.03) in the patients with BHR. In addition, AHI (p= 0.03), BMI (p= 0.02), ESS scores (p= 0.03) were higher in patients with BHR (21 patients) than in patients not having BHR (26 patients). Significant negative relation was found between PD 20 value and AHI (b=-0.45, p= 0.03) and significant positive relation was found between presence of BHR and AHI (p= 0.04), BMI (p= 0.03) independently of age and sex in multiple regression analysis. BHR is common in patients with OSAS. As severity of OSAS increased, severity of BHR increased. In addition, obesity may trigger presence of BHR in patients with OSAS.

  3. Restless Legs Syndrome in Patients with Hypertension and Diabetes Mellitus.

    Science.gov (United States)

    Sabic, Adela; Sinanovic, Osman; Sabic, Dzevad; Galic, Gordan

    2016-04-01

    The aim of this study was to analyze frequency of restless legs syndrome (RLS) in patients with hypertension and diabetes mellitus. It was analyzed 120 subjects (from Health Center Živinice/Family Medicine Department) through a survey conducted in the period from March to June 2015, of which 30 (8 men/22 women). Subjects were 30 patients with longtime hypertension (HT)(18 men/12 women), 30 patients with diabetes mellitus (DM) type I or II (9 men/21 women), 30 patients with long standing DM type I or II and HT (12 men /18 women), and 30 control subjects (12 men/18 women). RLS were evaluated by questionnaire - International RLS Study Group Criteria. The average age of patients in the group with HT was 58.70 ± 9.07, in the group with DM 48.43 ± 15.37, and in the group of patients with HT and DM 63.90 ± 7.49 years. In the control group mean age was 52.76 ± 14.83 years. Statistical data were analyzed in Excel and SSPS statistical program. RLS was identified in 10 (30%) of those with HT; 7 (21%) in patients with DM, and 10 (30%) in patients with HT+DM. In the control group RLS was verified in 4 (12%) patients. Comparing the results, it was observed significant difference between the HT and the control group (p=0.0012) and HT+ DM and control group (p=0.0012). The frequency of RLS between DM and the control group was not significantly significant (p=0.107). RLS is frequent in patients with hypertension (30%), hypertension+ diabetes mellitus (30%), and patients with DM (21%).

  4. Outcome of Guillain–Barre syndrome patients with respiratory paralysis

    Science.gov (United States)

    Kalita, J.; Ranjan, A.

    2016-01-01

    Background and Aims: To evaluate the outcome of patients with Guillain–Barre syndrome (GBS) having respiratory failure treated with modified intubation policy. Design and Methods: Consecutive patients with GBS having single breath count below 12 and respiratory rate >30/min were included and their clinical details noted. The patients were intubated and mechanically ventilated (MV) if their PaO2 was  50 mmHg or pH < 7.3. Their electrophysiological subtypes and complications were noted. The hospital mortality and 3 months outcome were compared in MV and those could be managed without MV even with respiratory compromise. Results: Out of 369 patients, 102 (27.6%) patients had respiratory compromise who were included in this study. Of the patients with respiratory compromise, 44 (43.1%) were intubated and mechanically ventilated after a median of 4 days of hospitalization. The median duration of MV was 21 (range 1–88) days. The patients with autonomic dysfunction (56.8% vs. 19%), facial weakness (78% vs. 36.2%), bulbar weakness (81.8% vs. 31%), severe weakness (63.8% vs. 31%) and high transaminase level (47.7% vs. 25.9%) needed MV more frequently. In our study, 6.8% patients died and 26.6% had poor outcome which was similar between MV and non-MV patients. The MV patients had longer hospitalization and more complications compared with non-MV group. Conclusion: In GBS patients with respiratory compromise, conservative intubation does not increase mortality and disability. PMID:26475599

  5. Metabolic syndrome in patients with peripheral arterial disease.

    Science.gov (United States)

    Estirado, E; Lahoz, C; Laguna, F; García-Iglesias, F; González-Alegre, M T; Mostaza, J M

    2014-11-01

    The prevalence of metabolic syndrome (MS) in patients with peripheral arterial disease (PAD) and coronary or cerebrovascular disease is increasing, but it is not known whether this association also exists in patients with isolated PAD. The aim of the current study was to assess the prevalence of MS in patients with PAD who had no coronary or cerebrovascular disease, the prescription rate of evidence-based cardiovascular therapies and the attainment of therapeutic goals in patients with PAD and with and without MS. Multicenter, cross-sectional study of 3.934 patients aged ≥ 45 years with isolated PAD who were treated in primary care and specialized outpatient clinics during 2009. A diagnosis of PAD was reached for ankle brachial indices <0.9, a previous history of amputation or revascularization. In the overall population, the mean age was 67.6 years, 73.8% were males and 63% had MS (95% CI 61.5-64.3%). Patients with MS had a higher prevalence of cardiovascular risk factors and comorbidities, more severe PAD and higher prescription rate of evidence-based cardiovascular therapies. After adjusting for risk factors and comorbidity, there was a more frequent use of renin-angiotensin system blockers, beta-blockers, diuretics and statins among the patients with MS. A lower percentage of patients with MS achieved the therapeutic goals for blood pressure (22% vs. 41.5%, p<0.001). Similarly, a lower percentage of patients with diabetes achieved the glycated hemoglobin goals (44% vs. 53.1%, p<0.001), with no differences in LDL-cholesterol levels (29.8% vs. 39.1%, p=0.265). Patients with PAD have a high prevalence of MS. Patients with MS do not attain therapeutic goals as frequently as those without, despite taking more cardiovascular drugs. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  6. [Treatment motivation in patients with chronic cardiorenal syndrome].

    Science.gov (United States)

    Efremova, E V; Shutov, A M; Borodulina, E O

    2015-01-01

    To study treatment motivation in patients with chronic heart failure (CHF) and in those with CHF concurrent with chronic kidney disease (CKD). A total of 203 patients (130 men and 73 women; mean age, 61.8±9.6 years) with CHF diagnosed and assessed in accordance with the National Guidelines of the All-Russian Research Society of Cardiology and the Heart Failure Society for the diagnosis and treatment of CHF (third edition, 2009) were examined. CKD was diagnosed according to the 2012 National Guidelines of the Research Nephrology Society of Russia. A group of patients with chronic cardiorenal syndrome (CRS) included those with CHF and CKD with a glomerular filtration rate (GFR) of motivation for non-drug and drug treatments were assessed in patients with chronic CRS. CFR was 67.7±17.2 ml/min/1.73 m2; chronic CRS was observed in 89 (44%) patients. Psychological functioning assessment showed that the patients with chronic CRS as compared with those with CHF without CKD had high anxiety and maladaptive disease attitudes. CHF treatment motivation (compliance with lifestyle modification and medication) was proved inadequate and detected only in 31 (15.3%) patients with CHF regardless of the presence of CKD. The specific features of psychological functioning, which affected treatment motivation, were seen in patients with chronic CRS: those who were lowly motivated had a euphoric attitude towards their disease (p=0.03); those who were satisfactorily motivated showed an emotive accentuation of character (p=0.002). The presence of CKD aggravates the clinical course of CHF and negatively affects the psychological functioning of patients with CHF. The patients with chronic CRS are characterized by a low level of motivation for both drug and non-drug treatments, which should be taken into account when managing this cohort of patients.

  7. Plasma Apelin Concentrations in Patients With Polyuria-Polydipsia Syndrome.

    Science.gov (United States)

    Urwyler, Sandrine Andrea; Timper, Katharina; Fenske, Wiebke; de Mota, Nadia; Blanchard, Anne; Kühn, Felix; Frech, Nica; Arici, Birsen; Rutishauser, Jonas; Kopp, Peter; Stettler, Christoph; Müller, Beat; Katan, Mira; Llorens-Cortes, Catherine; Christ-Crain, Mirjam

    2016-05-01

    Apelin and arginine vasopressin are antagonists in the regulation of body fluid and osmotic homeostasis. There are no data about apelin levels in patients with polyuria-polydipsia syndrome (PPS). To investigate plasma apelin levels and plasma apelin to copeptin ratios in patients with PPS and healthy volunteers using copeptin as a surrogate marker for arginine vasopressin. We included 41 patients with PPS in this post hoc analysis of a prospective study performed in tertiary care hospitals in Switzerland and Germany and 113 healthy volunteers as a control group. Plasma apelin and copeptin levels were measured in 15 patients with complete central diabetes insipidus (DI), seven patients with complete nephrogenic DI, 19 patients with primary polydipsia (PP), and 113 healthy volunteers. Plasma apelin levels were highest in patients with complete nephrogenic DI (413 pmol/L; interquartile range, 332-504 pmol/L; P = .01) and lower in patients with PP (190 [172-215] pmol/L; P .9) was similar to healthy volunteers (57 [37-102] pmol/pmol). In contrast, the apelin to copeptin ratio was higher in patients with complete central DI (89 [73-135] pmol/pmol; P = .02) and lower in patients with complete nephrogenic DI (7 [6-10] pmol/pmol; P < .001) compared to healthy volunteers. In PP, normal plasma apelin to copeptin ratio attests a normal water homeostasis. In contrast, in patients with central or nephrogenic DI, the increased or decreased apelin to copeptin ratio, respectively, reflects a disturbed osmotic and body fluid homeostasis.

  8. Comparison of metabolic syndrome prevalence in patients with schizophrenia and bipolar I disorder.

    Science.gov (United States)

    Nayerifard, Razieh; Bureng, Majid Akbari; Zahiroddin, Alireza; Namjoo, Massood; Rajezi, Sepideh

    2017-11-01

    Research has shown that the metabolic syndrome is more prevalent among patients with schizophrenia or bipolar I disorder. Given the scarcity of research on the disorders, this paper aims to compare the prevalence of the syndrome among the two groups of patients. A total of 120 individuals participated in this cross sectional study: 60 patients with schizophrenia (26 males and 34 females) and 60 patients with bipolar I disorder (32 males and 28 females). The psychological disorders were diagnosed by some experienced psychiatrists according to the DSM-V. Furthermore, metabolic syndrome was diagnosed according to ATP III guidelines. Metabolic syndrome prevalence among schizophrenic and bipolar I patients was 28 and 36 percent, respectively; the disparity in prevalence is not significant. According to the results, compared to their male counterparts, females were more prone significant to metabolic syndrome. Moreover, diastolic blood pressure was significantly higher among bipolar I patients. On the other hand, schizophrenic males were observed to have higher fasting blood sugar levels in comparison to bipolar I males patients. Age, consumption of second generation antipsychotics or antidepressants, and the duration of the disorder were found to be related to metabolic syndrome. This study showed that metabolic syndrome is not more prevalent among bipolar I patients, compared to those with schizophrenia. Also, women are more likely to be affected by the syndrome. A number of factors such as age, consumption of medication, and duration of the disorder are associated with the likelihood of the syndrome. Copyright © 2017. Published by Elsevier Ltd.

  9. [Features of metabolic syndrome in patients with depressive disorder].

    Science.gov (United States)

    Zeman, M; Jirák, R; Zák, A; Jáchymová, M; Vecka, M; Tvrzická, E; Vávrová, L; Kodydková, J; Stanková, B

    2009-01-01

    Depressive disorder is a serious illness with a high incidence, proxime accessit after anxiety disorders among the psychiatric diseases. It is accompanied by an increased risk of development of type 2 diabetes mellitus, cardiovascular disease, and by increased all-cause mortality. Recently published data have suggested that factors connected with the insulin resistance are at the background of this association. In this pilot study we have investigated parameters of lipid metabolism and glucose homeostasis in consecutively admitted patients suffering from depressive disorder (DD) (group of 42 people), in 57 patients with the metabolic syndrome (MetS) and in a control group of 49 apparently healthy persons (CON). Depressive patients did not differ from the control group by age or body mass index (BMI) value, but they had statistically significantly higher concentrations of serum insulin, C-peptide, glucose, triglycerides (TG), conjugated dienes in LDL particles (CD-LDL), higher value of microalbuminuria and of insulin resistance (HOMA-IR) index. They simultaneously had significantly lower value of the insulin sensitivity (QUICKI) index. In comparison with the MetS group the depressive patients were characterized by significantly lower both systolic and diastolic blood pressure, BMI , serum TG, apolipoprotein B, uric acid, C-peptide and by higher concentrations of apolipoprotein A-I and HDL-cholesterol. On the contrary, we have not found statistically significant differences between the DD and MetS groups in the concentrations of serum insulin, glucose, HOMA and QUICKI indices, in CD-LDL and MAU. In this pilot study, we have found in patients with depressive disorder certain features of metabolic syndrome, especially insulin resistance and oxidative stress.

  10. Rufinamide in patients with Lennox-Gastaut syndrome

    Directory of Open Access Journals (Sweden)

    Clark PO

    2016-11-01

    Full Text Available Peggy O Clark,1 Patricia A Gibson2 1Cincinnati Children’s Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, OH, 2Epilepsy Information Service, Wake Forest University School of Medicine, Winston-Salem, NC, USA Objectives: Lennox–Gastaut syndrome (LGS is an epileptic encephalopathy with an onset at the age of ~4 years. LGS is notoriously difficult to manage, as most patients experience multiple seizures per day, despite their concomitant use of several antiepileptic drugs (AEDs. Rufinamide (BANZEL® is an AED approved by the US Food and Drug Administration for the adjunctive treatment of seizures associated with LGS in pediatric patients aged ≥1 year and in adults. The expert care of nurses knowledgeable in the treatment options for LGS is valuable to patients and caregivers. This review summarizes the existing knowledge on LGS and data from clinical and real-world studies on the use of rufinamide in patients with LGS.Methods: Recent review articles and information from the Epilepsy Foundation Website were reviewed for data on LGS treatment. Primary articles on rufinamide were also selected for review.Results and conclusion: The efficacy and safety of rufinamide have been evaluated in children and adults by using double-blind, open-label, and observational studies. In general, these studies indicate that rufinamide effectively reduces the frequency and severity of multiple seizure types associated with LGS and has tolerable side effects, the most common being vomiting and somnolence. Dosing modifications based on age, weight, and concomitant AED usage are recommended for patients using rufinamide. Keywords: Lennox–Gastaut syndrome, anticonvulsants, rufinamide

  11. [SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome].

    Science.gov (United States)

    Xu, G Y; Hao, Q Q; Zhong, L L; Ren, W; Yan, Y; Liu, R Y; Li, J N; Guo, W W; Zhao, H; Yang, S M

    2016-11-07

    Objective: To determine the relevance between the SOX 10 mutation and Waardenburg syndrome (WS) accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with the SOX 10 mutation. Methods: This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery, Chinese Peoples's Liberation Army General Hospital. The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal. Meanwhile, the possible pathogenic genes of WS, including SOX10, MITF , and PAX 3, were also screened. Patients were divided into two groups according to SOX 10 mutation.The Fisher accuracy test was used to determine statistical difference of inner ear deformation incidence between the two groups. Results: Among all 36 patients, 12 were found to have inner ear abnormality. Most abnormalities were posterior semicircular canal deformations, some accompanied with cochlear deformation and an enlarged vestibule. Among all patients, 9 patients were SOX 10 heterozygous mutation carriers, among which six showed bilateral inner ear abnormality. Fisher accuracy test results suggested a significant correlation between the SOX 10 mutation and inner ear abnormality in WS patients ( P =0.036). Conclusion: This study found that WS patients with the SOX 10 mutation are more likely to have deformed inner ears when compared to WS patients without the SOX 10 mutation.

  12. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

    International Nuclear Information System (INIS)

    Dineen, R.A.; Lenthall, R.K.

    2004-01-01

    To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

  13. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dineen, R.A.; Lenthall, R.K. [Department of Radiology, University Hospital, Queen' s Medical Centre, NG7 2UH, Nottingham (United Kingdom)

    2004-04-01

    To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

  14. Evaluation of renal resistive index in cirrhotic patients for predicting the hepatirenal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Baek, Seung Yon; Kim, Hyae young; Yi, Sun Young [Ewha WoMans Univ. Mokdong Hospital, Seoul (Korea, Republic of)

    1996-04-01

    To evaluate the usefulness of renal resistive index(RI) in patients with liver cirrhosis as an indicator for predicting hepatorenal syndrome. Renal RIs of thirty cirrhotic patients were analyzed using the gray-scale and Doppler ultrasonograms. As a control group, eight normal subjects were included. Renal RIs were measured at three sites of interlobar or arcuate arteries of both kidneys. The patients were divided into three groups (A, B, or C) according to the Child-Turcotte-Pugh classification and their serum BUN and creatinine levels were compared. We determined whether RIs of normal controls differed from those of cirrhotic patients or whether RIs of cirrhotic patients correlated with the Child-Turcotte-Pugh classification or BUN and creatinine levels. Mean RIs(0.63 {+-}0.33) of normal subjects were statistically different from those(0.67 {+-} 0.05) of cirrhotic patients(P=0.009). RIs of group A(n=6), B(n=9) and C(n=15) were 0.65 {+-} 0.03, 0.65 {+-} 0.04 and 0.70 {+-} 0.04, respectively. The ANOVA test revealed statistically significant differences between the three groups(F ratio=4.472, P=0.021). RIs did not correlate with BUN or creatinine levels. RI could be used as an index for predicting hepatorenal syndrome before the renal function becomes impaired.

  15. Evaluation of renal resistive index in cirrhotic patients for predicting the hepatirenal syndrome

    International Nuclear Information System (INIS)

    Baek, Seung Yon; Kim, Hyae young; Yi, Sun Young

    1996-01-01

    To evaluate the usefulness of renal resistive index(RI) in patients with liver cirrhosis as an indicator for predicting hepatorenal syndrome. Renal RIs of thirty cirrhotic patients were analyzed using the gray-scale and Doppler ultrasonograms. As a control group, eight normal subjects were included. Renal RIs were measured at three sites of interlobar or arcuate arteries of both kidneys. The patients were divided into three groups (A, B, or C) according to the Child-Turcotte-Pugh classification and their serum BUN and creatinine levels were compared. We determined whether RIs of normal controls differed from those of cirrhotic patients or whether RIs of cirrhotic patients correlated with the Child-Turcotte-Pugh classification or BUN and creatinine levels. Mean RIs(0.63 ±0.33) of normal subjects were statistically different from those(0.67 ± 0.05) of cirrhotic patients(P=0.009). RIs of group A(n=6), B(n=9) and C(n=15) were 0.65 ± 0.03, 0.65 ± 0.04 and 0.70 ± 0.04, respectively. The ANOVA test revealed statistically significant differences between the three groups(F ratio=4.472, P=0.021). RIs did not correlate with BUN or creatinine levels. RI could be used as an index for predicting hepatorenal syndrome before the renal function becomes impaired

  16. [Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].

    Science.gov (United States)

    Wang, Huanhuan; Tang, Lifang; Zhang, Jingmin; Hu, Qin; Chen, Yingwei; Xiao, Bing

    2015-08-01

    To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies. Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results. Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies. The patient, carrying a 3p13p14.1 deletion, has features of Tietz