Mirjam Kretzschmar and colleagues describe the BCoDE project, which uses a pathogen-based incidence approach to better estimate the infectious disease burden in Europe.
Obesity has been considered to have a protective effect against the risk of fractures in adults. However, a high frequency of fracture is described in obese adults with Prader-Willi syndrome. To evaluate bone geometry, density and strength in a group of adult obese patients with Prader-Willi syndrome (PWS) and to examine the modulating effect on bone of treatment with growth hormone (GH) and sex steroids. This was a cross-sectional study performed in 41 (17 males, 24 females) obese subjects with genetically confirmed PWS, aged 29.4 ± 8.6 years. Forty-six healthy subjects (22 males and 24 females) served as controls. Digitalized X-rays were evaluated at the level of the 2nd metacarpal bone to assess bone geometry, i.e. cross-sectional area (CSA), cortical area (CA), medullary area (MA), metacarpal index (MI) and bone strength evaluated as bending breaking resistance index (BBRI). DEXA was also used to evaluate body composition and bone mineral density (total body, lumbar spine and femoral neck). PWS subjects, after adjusting for height and bone size, had a reduced CSA, CA and BBRI, while bone density was not different. GH treatment had a positive effect and sex steroids a negative effect on bone size and strength. PWS subjects showed a reduced bone size at the metacarpus leading to a reduced strength, while bone density was appropriate for size. GH treatment improves bone geometry but not bone density. Bone strength was significantly reduced in PWS patients who did not receive GH and had been treated with sex steroids.
Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition, poorly characterized in children. Objective to describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI. Patients and methods data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected. Results the following etiologies were reported: 85% (n=682) Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n=25) X linked Adrenoleukodystrophy; 3.1% (n=25) Autoimmune Polyglandular syndrome type 1; 2.5% (n=20) autoimmune AI; 2% (n=16) Adrenal Hypoplasia Congenital; 1.2% (n=10) CAH non 21-OHD; 1% (n=8) rare syndromes; 0.6% (n=5) Familial Glucocorticoid Deficiency; 0.4% (n=3) acquired AI; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis different from 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%) and hypotension (31%). Elevated ACTH (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%) and hypoglycemia (33.7%). The median age at presentation was 6.5±5.1 years (0.1-17.8 years) and the mean length of symptoms before diagnosis was 5.6±11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patients years. Three patients died for the underlying disease. Adult height, evaluated in 70 patients, was -0.70±1.20 SDS. Conclusions we characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.
Adults with Type 1 diabetes mellitus show a high risk of bone fracture, probably as a consequence of a decreased bone mass and microarchitectural bone alterations. The aim of the study was to investigate the potential negative effects of type 1 diabetes on bone geometry, quality, and bone markers in a group of children and adolescents. 96 children, mean age 10.5 ± 3.1 years, agreed to participate to the study. Bone geometry was evaluated on digitalized X-rays at the level of the 2nd metacarpal bone. The following parameters were investigated and expressed as SDS: outer diameter (D), inner diameter (d), cortical area (CA), and medullary area (MA). Bone strength was evaluated as Bending Breaking Resistance Index (BBRI) from the geometric data. Bone turnover markers (PINP, CTX-I, and BAP), sclerostin, Dkk-1, PTH, and 25OH-Vitamin D were also assessed. A group of healthy 40 subjects of normal body weight and height served as controls for the bone markers. D (- 0.99 ± 0.98), d (- 0.41 ± 0.88), CA (- 0.85 ± 0.78), and MA (- 0.46 ± 0.78) were all significantly smaller than in controls (p < 0.01). BBRI was significantly lower (- 2.61 ± 2.18; p < 0.0001). PTH, PINP, and BAP were higher in the diabetic children. Multiple regression analysis showed that CA and D were influenced by insulin/Kg/day and by BMI, while d was influenced by PINP only. Type 1 diabetic children show smaller and weaker bones. The increased bone turnover could play a key role since it might amplify the deficit in bone strength associated with the inadequate osteoblastic activity caused by the disease itself.
Nowadays, childhood obesity is one of the biggest health emergencies in the developed countries. Obesity leads to multiple metabolic alterations which increase the risk of developing diabetes and cardiovascular diseases. Thyroid function has been often described as altered in obese children, however, it is not clear whether the altered thyroid function is the cause or the consequence of fat excess. On the other hand, thyroid structure seems also to be affected. Nevertheless, both functional and structural alterations seem to improve after weight loss and therefore no treatment is needed.Conflict of interest:None declared.
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