A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the Hutterite population. A few cases have been reported in other populations. Here, we report the results of a genome-wide scan and fine mapping of the BCS locus in Hutterite families. By linkage and haplotype analysis the BCS locus was mapped to a 3.5 cM segment (1.9 Mbp) in chromosome region 12p13.3 bounded by F8VWF and D12S397. When genealogical relationships among the families were taken into account in the linkage analysis, the evidence for linkage was stronger and the number of potentially linked regions was reduced to one. Under the assumption that all the Hutterite patients were identical by descent for a disease-causing mutation, haplotype analysis was used to infer likely historical recombinants and thereby narrow the candidate region to a chromosomal segment shared in common by all the affected children. This study also demonstrates that BCS and cerebro-oculo-facial-skeletal syndrome (COFS) are genetically distinct.     

Hypoglycemia and Dysautonomia After Bariatric Surgery: a Systematic Review and Perspective

Obesity Surgery - With the increasing performance of bariatric surgery, rare complications are becoming prevalent. We review the diagnosis and treatment of dysautonomia after bariatric surgery and...     

Response to glucose tolerance testing and solid high carbohydrate challenge: comparison between Roux-en-Y gastric bypass, vertical sleeve gastrectomy, and duodenal switch

Background

Hyperinsulinemic hypoglycemia is common after Roux-en-Y gastric bypass (RYGB) and may result in weight regain. The purpose of our investigation was to compare the effect of RYGB, vertical sleeve gastrectomy (VSG), and duodenal switch (DS) on insulin and glucose response to carbohydrate challenge.

Methods

Patients meeting National Institutes of Health criteria for bariatric surgery selected their bariatric procedure after evaluation and education in this prospective nonrandomized study. Preoperatively and at 6, 9, and 12 months’ follow-up, patients underwent blood draw to determine levels of fasting glucose, fasting insulin, glycated hemoglobin (HbA1c), C-peptide, and 2-h oral glucose challenge test. Homoeostatic Model Assessment (HOMA)-IR, fasting to 1-h and 1- to 2-h ratios of glucose and insulin, were calculated. Statistical analysis was performed using ANOVA and Student’s paired t test. All procedures were performed via a laparoscopic technique at a single institution.

Results

Data from a total of 38 patients (13 RYGB, 12 VSG, 13 DS) were available for analysis. At baseline, all groups were similar; the only statistically significant difference was that DS patients had a higher preoperative weight and body mass index (BMI). All operations caused weight loss (BMI 47.7 ± 10–30.7 ± 6.4 kg/m² in RYGB; 45.7 ± 8.5–31.1 ± 5.5 kg/m² in VSG; 55.9 ± 11.4–27.5 ± 5.6 kg/m² in DS), reduction of fasting glucose, and improved insulin sensitivity. RYGB patients had a rapid rise in glucose with an accompanying rise in 1-h insulin to a level that exceeded preoperative levels. This was followed by a rapid decrease in glucose level. In comparison, DS patients had a lower increase in glucose and 1-h insulin, and the lowest HbA1c. These differences were statistically significant at various data points. For VSG, the results were intermediary.

Conclusions

Compared to gastric bypass, DS results in greater weight loss and improves insulin sensitivity and glucose homeostasis without causing a hyperinsulinemic response. Because the response to challenge after VSG is intermediary, pyloric preservation alone cannot account for this difference.     

Pedigree Selection and Tests of Linkage in a Hutterite Asthma Pedigree

We explored methods for kinship and linkage analysis in a Hutterite pedigree comprising 1,544 individuals, 72 of whom were diagnosed with asthma. Subpedigrees were selected by (a) identifying nuclear families containing asthmatics, (b) identifying couples with many asthmatic descendants in an ad hoc manner, and (c) finding the most recent common ancestors of all asthmatics. Markov chain Monte Carlo (MCMC) methods were used to estimate allele sharing in the larger subpedigrees and transmission/disequilibrium tests were performed on nuclear families. On chromosome 5q near the cytokine cluster, modest evidence for linkage to asthma was obtained. Using MCMC, we were able to evaluate the evidence for linkage in complex subpedigrees of several hundred individuals, and hence, incorporate some of the co‐ancestry of this founder population. © 2001 Wiley‐Liss, Inc.     

Postpartum Haemorrhage and Eclampsia: Differences in Knowledge and Care-seeking Behaviour in Two Districts of Bangladesh

In high- and low-performing districts of Bangladesh, the study explored the demand-side of maternal healthcare by looking at differences in perceived knowledge and care-seeking behaviours of women in relation to postpartum haemorrhage or eclampsia. Haemorrhage and eclampsia are two major causes of maternal mortality in Bangladesh. The study was conducted during July 2006–December 2007. Both postpartum bleeding and eclampsia were recognized by women of different age-groups as severe and life-threatening obstetric complications. However, a gap existed between perception and actual care-seeking behaviours which could contribute to the high rate of maternal deaths associated with these conditions. There were differences in care-seeking practices among women in the two different areas of Bangladesh, which may reflect sociocultural differences, disparities in economic and educational opportunities, and a discrimination in the availability of care.Key words: Beliefs, Care-seeking behaviour, Maternal mortality, Postpartum haemorrhage, Eclampsia, Qualitative research, Bangladesh