Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (i.e. affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12, and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3, and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

The aim of the study was to assess body composition in subjects with phenylketonuria (PKU). Forty-five patients aged 13.8 ± 5.2 years were evaluated. Among them, 15 patients had not reached sexual maturity, showing normal serum values of phenylalanine (Phe) (subgroup 1), and 30 subjects were sexually mature (Tanner 5 stage), showing either normal serum Phe (18 cases; subgroup 2a) or increased serum Phe (12 cases; subgroup 2b). DXA-assessed spine and total body (TB) measurements [bone mineral density (BMD), bone mineral content (BMC), lean body mass (LBM) and the calculated ratios BMC/LBM] as well as laboratory parameters (serum carboxyterminal telopeptide of type I collagen, bone alkaline phosphatase, osteocalcin, parathormone, calcitonin, total and ionized calcium) were analyzed. Statistically significant differences were revealed between subgroup 1 versus 2a for TB BMC/LBM ratio SD scores and between subgroup 2a versus 2b for TB BMD, spine BMD, TB BMC/LBM ratio and spine BMC/LBM ratio SD scores. Stepwise multiple regression analysis revealed that serum Phe negatively affected bone status. The skeletal status in children with PKU is impaired by the disease. Applying body composition parameters instead of BMD alone may reflect the level of impairment in a new, different way.

Objective: The incidence of osteoporosis increases with age and is most frequently observed in postmenopausal women. The objective of the present populationbased cohort study was to assess the influence of Ca intake from dairy sources on hip bone mineral density and hip fracture incidence in a group of Polish women over 55 years of age. Design: The main outcome measures included: bone mineral density, the number of previous fractures and the reported Ca intake from dairy sources, assessed by a diet questionnaire. Setting: The RAC-OST-POL Study was conducted in the District of Raciborz in the south of Poland. Subjects: The study was carried out in a group of 625 women, randomly recruited from the general population of women aged .55 years. Results: Median Ca intake from dairy products was lower in the group of women with femoral neck T-score #-2?5 than in the group with T-score .-2?5 (275 v. 383 mg/d; P 5 0?0019). For total hip score, the difference was close to borderline significance (P 5 0?0698). Median Ca intake from dairy products was lower in the group of women with previous fractures than in those without fracture history (336 v. 395 mg/d; P 5 0?0254). The main dairy source of Ca in the analysed group included milk drinks, rennet cheese and milk. Conclusions: Higher dairy Ca intake is recommended, since a number of the women analysed were unable to satisfy their Ca requirement exclusively from their diet.

BackgroundThe aim of the study was to establish longitudinal bone changes in obese women after laparoscopic sleeve gastrectomy (LSG).MethodsTwenty-nine women at baseline mean age of 40.41 ± 9.26 years and with mean body mass index (BMI) of 43.07 ± 4.99 kg/m2 were included in a 6-month study. Skeletal status at hip [femoral neck (FN) and total hip (TH)] and spine was assessed at baseline, as well as in 3 and 6 months after surgery. Body size was measured at baseline and follow-up (weight, height, BMI, and waist).ResultsBaseline body weight was 117.5 ± 18.4 kg. The mean body weight and BMI decreased by 17.9 % during the first 3 months after surgery to obtain 28.4 % after 6 months. At 6 months, BMD decreased significantly for spine by 1.24 %, FN 6.99 %, and TH 5.18 %. The changes after 3 months in individual subjects showed that, in the majority of subjects, FN and TH BMD decreased significantly (in 52 % and 69 % of subjects, respectively), and in 24 % loss of BMD was found at the spine. After 6 months, the corresponding, significant decreases in individual subjects were found in 72 %, 86 %, and 38 % of woman, respectively. Those with a significant loss of FN BMD tended to lose more weight (30 ± 9.47 versus 23.25 ± 6.08 kg, p = 0.061) than others; women with a significant decrease of FN BMD lost more weight than those with no such decrease (30.43 ± 8.07 versus 15 ± 1.91 kg).ConclusionLSG proved efficient for body weight reduction, however, with a parallel decline in bone mineral density.

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