H syndrome with a novel homozygous SLC29A3 mutation in two sisters.

H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We report a novel homozygous missense mutation, c.416T > C p.(Leu139Pro), in the SLC29A3 (NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.

Evaluation of metabolic parameters and aortic elasticity in normotensive children with premature adrenarche.

OBJECTIVES: Premature adrenarche may be associated with an intrauterine programmed metabolic syndrome which should be considered as a warning sign for coronary heart disease due to accelerated atherosclerosis, hypertension, type 2 diabetes mellitus (DM), and polycystic ovary syndrome. METHODS: Seventy-three patients with premature adrenarche were evaluated for metabolic parameters and aortic elasticity to evaluate the susceptibility to atherosclerosis and compared with a control group. The patients were examined in two groups as overweight and nonoverweight, and metabolic and cardiac parameters were also compared among these groups. Strain, distensibility, and stiffness index parameters were used to evaluate aortic elasticity. RESULTS: Biochemical parameters and cardiac measurements were not statistically different between patients and controls. They also did not differ between patients with normal weight and overweight groups. Atherogenic index and insulin resistance were closely related and a positive correlation between cholesterol and triglyceride, and ascending aortic stiffness was found. CONCLUSIONS: The results may suggest that cholesterol and triglyceride-related arterial involvement is more involved in the pathogenesis of arterial stiffness. It can be considered that 'being overweight' or 'having metabolic profile characterized by insulin resistance and dyslipidemia' are the major coexisting factors influencing the vascular structure, rather than increased androgens and premature adrenarche itself.

Mental health screening and increased risk for anxiety and depression among treatment-seeking smokers.

BACKGROUND: The aim of this study was to compare the risk for mental health disorders between smokers and non-smokers and to assess the risk for depression and anxiety according to addiction severity. METHODS: This cross-sectional study assesses the mental health status and relationship with the severity of nicotine addiction in a sample of smokers admitted to Pamukkale University Hospital Smoking Cessation Clinic (n = 101) from 1 June 2012 to 31 August 2012 compared to a group of non-smokers from the general population (n = 101). We conducted semi-structured face-to-face interviews to collect sociodemographic data; we assessed the participants' mental health status with the General Health Questionnaire-12 (GHQ-12) and the Hospital Anxiety and Depression Scale (HADS), and we measured nicotine addiction severity with the Fagerström Test. RESULTS: The risk for mental illness reported by smokers based on the GHQ-12 was significantly higher than that for non-smokers (p = 0.001). The anxiety and depression scores according to HADS were higher among smokers (16.8% and 22.8%, respectively) than non-smokers (4.0% and 5.0%, respectively) (p = 0.006 and p = 0.001, respectively). The nicotine addiction severity was higher in smokers with higher anxiety and depression scores (p = 0.008). CONCLUSIONS: We found high scores for mental illness in treatment-seeking smokers compared with non-smokers. The risk for anxiety and depression was higher among smokers. Increased nicotine addiction severity was associated with increased risk for mental illness and increased scores of anxiety and depression.