Nutrigenetic genotyping study in relation to Sleep Apnea Clinical Score.

BACKGROUND: Conflicting results regarding associations between single nucleotide polymorphisms (SNPs) in IRS1, ACE, APOE, PPARG, MTHFR, 5HT2AR, BDNF, and FTO genes and obstructive sleep apnea have been reported in previous studies. OBJECTIVE: To assess pleiotropic associations between these gene polymorphisms that are commonly being studied in a nutrigenetic test and sleep apnea. METHODS: One hundred and nine subjects of Caucasian origin who have performed a commercially available nutrigenetic test that includes the aforementioned polymorphisms were divided into two groups depending on the results of their Sleep Apnea Clinical Score (SACS ≤ 15 or > 15). Statistical significant differences in the prevalence of the polymorphisms under study between the groups were assessed with the Chi-squared test. Possible associations of the polymorphisms with SACS and BMI were further evaluated with logistic regression analyses. RESULTS: From the polymorphisms studied, only variant rs9939609 in the FTO gene was more prevalent in people with high sleep apnea clinical score (χ2 = 7.1, P = 0.029). However, this association was attenuated after adjustment for body mass index (OR = 0.653, P = 0.178). CONCLUSION: We failed to confirm previously reported associations between the majority of the studied polymorphisms and sleep apnea. Body weight seems to be an important cofounding factor that needs to be accounted for, when genetic association studies are performed for sleep apnea.

Incidence and risk factors of coronary artery disease in patients on chronic hemodialysis.

Aim of the study was to estimate the incidence of coronary heart disease (CAD) in patients (pts) with end stage renal disease (ESRD) maintained on chronic hemodialysis (HD) and its association with the presence of predisposing factors. The study included 171 dialysis pts (107 male (M) and 64 female (F)). Mean age of pts was 67+/-13 years, mean time on dialysis 52.7+/-44 months and Body Mass Index (BMI) 25.9+/-3.7 kg/m2. Fifty pts (29.2%) were clinically diagnosed with CAD. The diagnosis was established by coronary angiography in 24 (48%) and in 26 by combined dipyridamole-exercise thallium imaging (52%). Pts' data in association with the development of CAD that were recorded included age, sex, smoking habits, hypertension, obesity, the presence of diabetes mellitus (DM), hyperlipidemia, anemia, low albumin levels, secondary hyperparathyroidism (SHP), the presence of chronic inflammation, as evidenced by the presence of elevated levels of CRP and hyperhomocysteinemia. There was a statistically significant association of increasing age and CAD (p<0.0001). Relative risk (RR) was significantly increased i) in male pts compared to female pts (RR: 8.56, p<0.001), ii) in anemic pts compared to pts with hemoglobin levels< or =11 g/dL (RR: 8.26, p<0.0001), iii) in obese pts compared to pts with BMI < or =30 (RR: 5.09, p<0.005) and iv) in pts with increased levels of homocysteine compared to pts with levels of homocysteine <15 |IM (RR: 4.14, p<0.0001). Using linear regression analysis, CAD was associated with the inadequacy of HD (r = - 0.05, p<0.0001), time on HD (r =0.04, p =0.012) and increasing age (r =0.24, p<0.001). There was no statistically significant association between CAD and the presence of the other traditional risk factors. The incidence of CAD in dialysis pts is significantly increased with age, male sex, obesity, time on dialysis, the presence of anemia, hyperhomocysteinemia and inadequacy of HD.

Pregnancy outcome in women with pre-existing lupus nephritis.

The aim of the present study was to assess the fetal and maternal outcome in a cohort of patients with lupus nephritis. Twenty-four pregnancies in 22 women with lupus nephritis occurring between 1991 and 2000 were analysed retrospectively. Lupus nephritis was biopsy proven before pregnancy in all cases. Women were followed from the beginning of pregnancy up to 6 months postpartum. Close fetal-maternal monitoring and frequent laboratory investigations were applied routinely to all patients. All women were prescribed steroid therapy from the beginning of the pregnancy. There were 18 live births, four spontaneous abortions and two stillbirths. Of the 18 live births, 14 were premature and four were term deliveries, representing a 25% fetal loss rate and 58% prematurity rate. There were two fetuses with congenital heart block. We recorded hypertension in 42%, proteinuria in 50% and pre-eclampsia in 25% of our patients. Proteinuria was irreversible in four cases. No maternal deaths or postpartum exacerbation of the disease were recorded in the study period. All renal flares were reversed postpartum. Patients positive for antiphospholipid antibodies had a worse perinatal outcome. Hypertension, proteinuria and antiphospholipid antibodies appear to be associated with adverse perinatal outcome and pregnancy complications. Pregnancy is not contraindicated in women with lupus nephritis, but is associated with significant fetal and maternal risks.

Unusual clot formation following insertion of central double lumen catheter for hemodialysis.

BACKGROUND: We report a case of a patient with chronic renal failure (CRF) due to fibrillary glomerulonephritis, who was admitted to our Hospital with fever accompanied by chills, of two days duration. Due to aggravation of his CRF, accompanied by severe metabolic acidosis, an internal jugular double lumen central vein catheter was inserted, through which he was hemodialyzed. METHODS: Blood cultures were negative. The catheter was removed and the tip was cultured; it revealed colonization with hemolytic Staphylococcus sensitive to vancomycin and metilmycin. They were both given to the patient with excellent results. Trans-thoracic and trans-esophageal echocardiography revealed a clot in the right atrium with an abnormal circumference, connected to the tip of the second catheter. Anticoagulants were administered (calsium nadroparin, converted seven days later to acenocoumarol) and the size of the clot was significantly reduced. RESULTS: The case is presented in order to prove the significant contribution of trans-esophageal echocardiography as a non-invasive imaging technique for the detection of a clot in the right atrium and the impressive influence of appropriate therapeutic management in saving the patient's life and reducing the clot size. CONCLUSIONS: The trans-esophageal echocardiogram provides invaluable information concerning the evolution, development and regression of right atrium clots formed at the tip of jugular catheters.