A family with a novel termination mutation in hepatic nuclear factor 1α in maturity-onset diabetes of the young type 3 which is unresponsive to sulphonylurea therapy.

BACKGROUND: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus. AIMS: To identify the genetic basis in a family with 3 generations of diabetes and to assess the concordance between the genotype and phenotype. METHODS: A molecular analysis was performed on genomic DNA using polymerase chain reaction, denaturing gradient gel electrophoresis, and sequencing. A mixed-meal tolerance test (MMTT) was performed with/without glibenclamide. Abdominal ultrasonography was performed on all family members with diabetes due to the location of the mutation. RESULTS: A novel c.618G>A, p.W206X termination mutation was identified in the hepatic nuclear factor 1α (HNF1α) gene. The mutation was identified in the proband and 8 of the 14 family members tested. An MMTT stimulus (±2.5 and 5 mg glibenclamide) produced a similar glucose profile and C-peptide graph in both the obese proband and her nonobese mother, showing no effect of the glibenclamide. No evidence of liver adenomas was found in the abdominal ultrasonography. CONCLUSIONS: We described a novel c.618G>A, p.W206X mutation in HNF1α associated with MODY 3 but not with hepatocellular adenoma. In contradistinction to most MODY 3 mutations, treatment with sulphonylurea was found to be a clinically ineffective alternative to insulin therapy.

Low-carbohydrate (low & high-fat) versus high-carbohydrate low-fat diets in the treatment of obesity in adolescents.

AIM: To compare the impact of low-carbohydrate diets of different fat content to high-carbohydrate low-fat diet on weight and metabolic parameters in obese adolescents. METHODS: Fifty-five patients aged 12-18 years with a body mass index (BMI) above the 95th percentile were randomly allocated to one of three isoenergetic diet regimens. Anthropometric and metabolic measurements were taken after overnight fast, at baseline, after the 12-week intervention and after nine month of follow-up. RESULTS: No significant differences were found among the groups in changes in BMI, BMI-percentile, fat percentage, or metabolic markers at the end of the intervention and at the end of follow-up. Insulin level and homeostasis model assessment (HOMA) level decreased significantly at both time points only in the two low carbohydrate diet groups. CONCLUSION: All diet regimens are associated with a significant reduction in BMI and improvement of some metabolic parameters in obese adolescents. Low-carbohydrate diets apparently have no advantage over high-carbohydrate low-fat diets. The significant drop in insulin level and HOMA in the low carbohydrate diet groups is noteworthy given the increasing frequency of type-2 diabetes as part of metabolic syndrome in children and youth. The impact of low carbohydrate diets in obese and insulin-resistant youth warrants further investigation.

Breech presentation is a risk factor for intrapartum and neonatal death in preterm delivery.

OBJECTIVES: To determine the prevalence of malpresentation among preterm births and to evaluate the clinical significance of malpresentation as a predictor of neonatal complications in preterm delivery. STUDY DESIGN: A cross-sectional study was conducted comparing 692 nonvertex preterm deliveries of singleton births (24-36 weeks) to 4685 vertex preterm deliveries. Women with gestational age less than 24 weeks and birthweight <500 g were excluded from the study. RESULTS: The study population included 5377 women who met the inclusion criteria. The prevalence of malpresentation was 12.8% (692/5377); 73% in the breech presentation, 22% in the transverse lie, and 5% in other positions. The mean gestational age at birth was significantly lower in the nonvertex group (32.4+/- 3.5 vs. 34.2+/-2.6; P<0.0001). Higher rates of perinatal mortality (23.1% vs. 10.1%; P<0.0001) were observed in the nonvertex group when compared with vertex births, as well as other complications such as oligohydroamnion (9.2% vs. 3.2%; P<0.0001); small-for-gestational-age; (10.5% vs. 5.9%; P<0.001); congenital anomalies (11% vs. 5.9%; P<0.001); placental abruption (8.7% vs. 4. 1%; P<0.0001); placenta previa (6.8% vs. 2.5%; P<0.0001); premature rupture of membranes (25.4% vs. 16.6%; P<0.0001); chorioamnionitis (7.9% vs. 2.9%; P<0.001); prolapse of cord (2.3% vs. 0.6%; P<0.0001) and cesarean section rate (63.9% vs. 19.1%; P<0.0001). Neonatal mortality was found to be higher for breech presentation, odds ratio (OR)=4 (confidence interval [CI]=2.76-4; P<0.0001), transverse lie, OR=2.1 (1.1-4.12; P<0.02) and for other malpositions, OR=7.3 (2. 72-20; P<0.0001). After multivariate adjustment for birthweight, cesarean section, placental pathology and chorioamnionitis, a strong association remained between the presence of breech presentation and neonatal mortality, with an adjusted OR of 2.2 (CI=1.36-3.63; P<0.01). The adjusted OR for the two other groups of malpresentation was not statistically significant. CONCLUSION: Breech presentation in preterm delivery is an independent risk factor for neonatal mortality after simultaneous adjustment for birthweight, chorioamnionitis and placental pathology. Cesarean section was found to have a protective effect on neonatal mortality rates.

[Macular edema in retinal vein occlusion]. / L'oedème maculaire dans l'occlusion veineuse rétinienne.

Venous occlusion causes retrograde intravascular hyperpression resulting in a rupture of the inner hematoretinal barrier and sometimes in capillary occlusions. The various clinical types of venous thrombosis which result from various degrees of intravascular hyperpression have different prognoses. The laser treatment of macular edema secondary to venous occlusion is recommended under certain conditions.

Pineal-retinal molecular relationships; immunocytochemical evidence of calbindin-27 kDa in pineal transducers.

Calbindin-27 kDa immunocytochemical localization was studied concurrently in the pineal organ and retina from human as well as representatives of all vertebrate classes. Calbindin immunoreactivity was demonstrated in retinal cones (but not in rods) and in pineal transducers (cone-like and modified photoreceptor cells, pinealocytes) of a majority of amniotes. In contrast, no labelling was observed in anamniotes, except in retinal cones of the toad. Labelling was distributed through all cellular compartments (outer and inner segments, perikarya, pedicles or processes) of pineal transducers and retinal cones. Intra- and interspecific variations of calbindin contents are discussed.