Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

The relationship between vitamin D and inflammatory markers in maintenance hemodialysis patients

Purpose: The aim of this study was to investigate the relationship between vitamin D and novel inflammatory markers in hemodialysis patients. Methods: In total, 129 eligible maintenance hemodialysis patients were enrolled in this cross-sectional study. Patients were divided into two groups according to their serum vitamin D levels. A serum 25-hydroxyvitamin D (25(OH)D) level < 20 ng/ml was identified as vitamin D deficiency and a serum level ≥ 20 ng/ml was identified as normal. The neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) were calculated from the complete blood cell count. Spearman correlation analysis and both logistic and linear regression analyses were used to define the relationships between the study parameters. Results: The two groups showed statistically significant differences for gender and for C-reactive protein (CRP) and NLR values (p = 0.017, p = 0.010, and p = 0.013). Age and gender were independently associated with vitamin D deficiency (p = 0.003 and p = 0.030). Serum 25(OH)D levels showed significant but weak inverse correlations with CRP (r = − 0.205, p = 0.020) and with NLR (r = − 0.219, p = 0.013). Serum 25(OH)D levels also showed a significant but very weak correlation with PLR (r = − 0.182, p = 0.039). Serum 25(OH)D levels showed no correlation with mean platelet volume (p = 0.660). Gender was the only variable significantly associated with serum vitamin D levels, as determined by linear regression analysis (p = 0.003). Conclusion: CRP levels and NLR values were significantly higher in the vitamin D deficiency group. A significant inverse correlation was found between serum vitamin D levels and CRP levels, and NLR and PLR values

Relationship between Serum Vitamin D levels and health-related quality of life in maintenance hemodialysis patients

Objectives: Aim of the study was investigating the effect of serum vitamin D levels on health-related quality of life in hemodialysis patients. Method: One-hundred and twenty-three maintenance hemodialysis patients were enrolled in this cross-sectional study. Patients divided into 2 groups according to serum vitamin D levels. A serum 25-hydroxyvitamin D (25[OH] D) level of < 20 ng/mL was identified as vitamin D deficiency (n = 78), and a serum level of ≥20 ng/mL was identified as normal (n = 45). Kidney Disease Quality of Life 36 (KDQOL-36) survey was used for quality of life measurement. Scores of the all of 5 subscales of KDQOL-36 were calculated. Multiple linear regression analyses were used to define independent risk factors affecting the survey. Results: Mean age of patients was 62 and 56% of patients were male. Mean 25(OH) D levels were 11.86 and 29.57 ng/mL, respectively, in 2 groups. There was statistically significant difference between age and Kt/V levels between 2 groups (p = 0.008 and p = 0.041). Age and gender were found as significant predictors of vitamin D deficiency (p = 0.026 and p = 0.021). In symptom and problem list subscale, gender and comorbidity were detected as independent risk factors (p = 0.050 and p = 0.032). Comorbidity was the only independent risk factor for effect of kidney disease subscale (p < 0.001). Independent risk factors associated with burden of kidney disease subscale were comorbidity and serum 25 (OH) D levels (p = 0.003 and p = 0.023). Serum 25(OH) D, gender, and comorbidity were independently associated with physical component summary (PCS) subscale (p < 0.001, p = 0.008, and p = 0.011). The only independently associated factor with mental component summary (MCS) was serum 25(OH) D (p < 0.001). Conclusion: We first showed the relationship between serum vitamin D levels and KDQOL-36 in hemodialysis patients. Lower serum vitamin D levels were negatively associated with burden of kidney disease, PCS, and MCS subscales

The Relationship Between Nt-ProBNP and Volume Overload in Diabetic Nephropathy Progression

Objectives: The early diagnosis of volume overload in chronic kidney disease (CKD) is very important. N-terminal probrain natriuretic peptide (NT-proBNP) is a valuable biomarker for this purpose. Our study aimed to detect the relationship between NT-proBNP and left ventricular hypertrophy (LVH), hypertension (HT), GFR, and proteinuria among diabetic patients with stage 3-4 CKD. Methods: 160 diabetic patients with stage 3-4 CKD [80 patients in stage 3 CKD (group 1) and 80 patients in stage 4 CKD (group 2)] were enrolled. NT-proBNP levels were evaluated in serum, and proteinuria was determined from 24-hour collected urine. Left ventricular hypertrophy was evaluated by M-mode echocardiography. NT-proBNP levels were compared according to their left ventricular hypertrophy, hypertension, and proteinuria levels. Results: NT-proBNP levels was significantly higher, and GFR was lower in group 2 compared to group1 (p < 0.05). NTproBNP was higher in patients with LVH (+) HT (+) and proteinuria ≥ 1gr/d than patients with LVH (-), HT (-), and proteinuria < 1g/d (p < 0.05). We found a significant correlation between NT-proBNP levels and left ventricular posterior wall thickness, diastole (LVPWTd), proteinuria, SBP, and DBP. Proteinuria was the major contributor to increased NTproBNP levels among the independent variables. Conclusion: We detected that NT-proBNP levels are increased during the progression of CKD, and proteinuria is the major cause of increased NT-proBNP levels among the independent variables

Primary Antiphospholipid Syndrome Associated with Pneumonia: A Case Report of a 16-Year-Old Male Patient

Antiphospholipid syndrome (APS) is an autoimmune disease characterised by arterial and/or venous thrombosis and/or recurrent pregnancy loss in the presence of antiphospholipid (APL) antibodies. It is evaluated as APS when it develops associated with other systemic autoimmune diseases or primary APS if there is no concomitant disorder. In this study, we present a case of a 16-year-old male patient with primary APS. The patient was admitted with presumptive diagnosis of pneumonia, but multiple pulmonary thromboembolism (PTE) was observed on computerized tomography (CT) pulmonary angiography. APL antibodies positivity and thrombocytopenia developed in our patient. The patient was evaluated as primary APS since another etiology that could explain PTE was not found. Primary APS is a rare disease in children along with adolescents, compared with APS associated with other systemic autoimmune diseases. We present here a young male patient with primary APS and PTE to contribute to the literature. The patient initially had pneumonia but later developed PTE and thrombocytopenia

Evaluation of Anthropometric and Metabolic Parameters in Obstructive Sleep Apnea

Aims. Sleep disorders have recently become a significant public health problem worldwide and have deleterious health consequences. Obstructive sleep apnea (OSA) is the most common type of sleep-related breathing disorders. We aimed to evaluate anthropometric measurements, glucose metabolism, and cortisol levels in patients with obstructive sleep apnea (OSA). Materials and Methods. A total of 50 patients with a body mass index ≥30 and major OSA symptoms were included in this study. Anthropometric measurements of the patients were recorded and blood samples were drawn for laboratory analysis. A 24-hour urine sample was also collected from each subject for measurement of 24-hour cortisol excretion. Patients were divided equally into 2 groups according to polysomnography results: control group with an apnea-hypopnea index (AHI) <5 (n=25) and OSA group with an AHI ≥5 (n=25). Results. Neck and waist circumference, fasting plasma glucose, HbA1c, late-night serum cortisol, morning serum cortisol after 1 mg dexamethasone suppression test, and 24-hour urinary cortisol levels were significantly higher in OSA patients compared to control subjects. Newly diagnosed DM was more frequent in patients with OSA than control subjects (32% versus 8%, p=0.034). There was a significant positive correlation between AHI and neck circumference, glucose, and late-night serum cortisol. Conclusions. Our study indicates that increased waist and neck circumferences constitute a risk for OSA regardless of obesity status. In addition, OSA has adverse effects on endocrine function and glucose metabolism

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