1,721,148 research outputs found
Editorial: Nutrition, diet and endocrinological health in female children and adolescents
No full textHow the intricate relationship between nutrition and hormonal equilibrium significantly influences endocrine and reproductive health in adolescent girls
Full text linkAB0481 Vitamin D Levels in Children, Adolescents, and Young Adults with Juvenile Onset Systemic Lupus Erythematosus: A Transversal Study
No full textVitamin D Levels in Children, Adolescents, and Young Adults with Juvenile Onset Systemic Lupus Erythematosus: A Transversal Stud
AB0976 Association of Vitamin D Receptor Polymorphisms with Juvenile Idiopathic Arthritis (JIA)
No full textAB0976 Association of Vitamin D Receptor Polymorphisms with Juvenile Idiopathic Arthritis (JIA
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene
No full textGenetic sequencing has become a critical part of the diagnosis of certain forms of familiar or isolated diabetes. Despite great advances in the speed and cost of DNA sequencing, determining the pathogenic variants remains a challenge. MODY is a form of monogenic diabetes caused by mutations occurring in different genes with a slightly different form of diabetes. Genetic testing for MODY has become a routine procedure allowing to set up proper treatment and discriminate from type 2 diabetes (T2D), whose symptoms often overlap. We analysed, in the last 2 years, about 100 Italian families with MODY/T2D diagnosis by high-throughput technology. We identified a novel missense mutation in SH2B1 gene in family with history of severe MODY/T2D.
The proposita (16 years-old) presented severe obesity and secondary amenorrhea. The father and the grandfather have a severe obesity and T2D (from 27 and 22 years respectively). BMI was 43.8 Kg/m2. Basal hormonal investigation showed normal thyroid function, adrenal function, but severe hyperinsulinism (fasting insulin 69.5 μU/ml). Diffuse hepatic steatosis as well as a sonographic pattern suggested a polycystic ovary syndrome. The oral glucose tolerance test showed an impaired glucose tolerance with marked insulin resistance (respectively, peak insulin level 564 μU/mL; 120' insulin level 435 μU/mL). As the father, only liraglutide and metformin treatment was associated with significant weight loss (after 3 months BMI was 40.1 Kg/m2). Menstrual cycle normalized after 2 months. SNPs in SH2B1 have been shown to be associated with leptin resistance and obesity as well as chromosomal deletions that eliminate the gene, are also associated with severe obesity and insulin resistance. This approach may help in understanding the molecular aetiology of diabetes and in providing a more personalized treatment for each genetic subtype. Next-generation sequencing technologies are the perfect applications to study of the genetic etiology of complex disease
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review
No full textOBJECTIVE: SOX3 is located on the long arm of the X chromosome (Xq27.1) and both the under- and over-expression of this gene have been reported in cases of hypopituitarism with or without intellectual disabilities. Nevertheless, only a few cases have as yet been extensively
described. DESIGN: A 3-year 11 month-old male was brought in for growth failure (height -2.4 SDS). The patient was born at term of a second uneventful pregnancy by caesarean section for podalic presentation: the birth weight (0.1 SDS), length (0.4 SDS), and head circumference (-0.3
SDS) were normal. Neurodevelopmental delays and ocular motor dyspraxia had been noted since 6 months of age. The endocrinological evaluation showed a very low IGF-I concentration (44 μg/L). The thyroid hormone level was normal and coeliac disease markers were negative.
Bone age was considerably delayed. Target height was normal (0.5 SDS). RESULTS: Growth hormone stimulation tests were compatible with a classic GHD, while a brain MRI disclosed a pituitary hypoplasia with ectopic neurohypophysis. rhGH treatment was then begun and the
auxological follow-up showed a good response. At the age of 9 yrs, the height was 0.3 SDS, the weight was 0.1 SDS, and the pubertal evaluation was PH1 AH1 T2 ml bilaterally. Due to the presence of neuromotor delays and MRI abnormalities, a genetic evaluation was conducted and an array-CGH of the patient’s DNA discovered an Xq26.3-27.3 duplication comprising the SOX3 gene. CONCLUSIONS: SOX3 involvement should be considered in a male with short stature due to GH deficiency associated with intellectual disability
Determinants of Vitamin D Levels in Children, Adolescents, and Young Adults with Juvenile Idiopathic Arthritis.
No full textDeficiency of 25-hydroxyvitamin D [25(OH)D] is reported to be common in patients with rheumatoid arthritis (RA); data in patients with juvenile idiopathic arthritis (JIA) are inconsistent. We assessed serum 25(OH)D in children, adolescents and young adults with JIA, in order to identify the risk factors for vitamin D deficiency in patients with JIA.We evaluated 152 patients with JIA: 115 female, 37 male, mean age 16.2 ± 7.4 yrs; evaluated by onset type, 96 had oligoarticular, 35 polyarticular, 7 systemic, and 14 enthesitis-related arthritis (ERA). Patients were compared with a control group matched for sex and age. All patients and controls underwent laboratory tests of plasma 25(OH)D, parathyroid hormone (PTH), calcium, phosphorus, and bone alkaline phosphatase levels, and dual-energy x-ray absorptiometry examination.Patients with JIA showed significantly reduced 25(OH)D levels compared to controls (p < 0.001), even divided into subtypes (oligoarticular, p < 0.05; polyarticular, p < 0.005; systemic, p < 0.001; ERA, p < 0.005). Patients with active disease and/or frequent relapses had significantly reduced 25(OH)D levels compared to patients with no active disease and no frequent flares (p < 0.005, respectively). Nevertheless, JIA patients had significantly higher PTH levels compared to controls (p < 0.0001). JIA patients with 25(OH)D deficiency showed a significantly lower bone mineral apparent density than those with normal 25(OH)D levels (p < 0.001).JIA patients have reduced 25(OH)D and higher PTH values. This may explain at least in part why JIA patients, despite more effective current drugs, do not achieve bone-normal condition over time. JIA patients with more severe disease could require higher supplementation of vitamin D to maintain normal 25(OH)D serum levels. Longterm studies are needed to investigate the relationship between serum 25(OH)D levels and disease activity in JIA
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Comparison of bone mass and quality determinants in adolescents and young adults with juvenile systemic lupus erythematosus (JSLE) and juvenile idiopathic arthritis (JIA)
No full textBACKGROUND: Few prospective data have been published on the comparison of bone density and quality in homogeneous groups of patients with juvenile systemic lupus erythematosus (JSLE) and juvenile idiopathic arthritis (JIA).
OBJECTIVE AND HYPOTHESIS: The objective of this study is to perform a longitudinal evaluation of the prevalence and the characteristics of bone mass and quality and to evaluate the differences on the bone parameters, using DXA, pQCT and QUS.
POPULATION AND/OR METHODS: Forty-three JSLE patients (35 females, 8 males, median age 18.8, range 14.0-34.1 years) have been studied with DXA, pQCT and QUS scans and compared with 138 JIA patients (112 females, 26 males, median age 18.9, range 13.4-33.2 years), and 79 controls (59 females, 20 males; median age 19.3, range 13.5-36.5 years). Of these, 39 patients (32 females and 7 males, median age 20.3, range 16.6-36.8 years) with JSLE were followed longitudinally and compared with 131 patients (108 females, 23 males median age 20.7, range 15.8-37.1 years) with JIA and 63 controls (48 females, 15 males; median age 21.9, range 15.5-38.3 years).
RESULTS: JSLE patients have a higher bone cortical density (CrtBMD) than controls and JIA patients (p < 0.005). However, JSLE and JIA patients have a significantly reduced bone trabecular density (TrbBMD) compared to controls (p < 0.0001), with no differences between JSLE and JIA. In addition, JIA patients show a significantly reduced muscle area (MuscleCSA) compared to JSLE and controls (p < 0.001). Conversely, fat area (FatCSA) is significantly increased both in JIA and JSLE patients when compared to controls (p < 0.001), with no differences between the JSLE and JIA groups. Analogous results are observed in the polar resistance to stress (SSIp). On longitudinal evaluation, contrary to CrtBMD, the difference between BMAD SDS, TrbBMD, MuscleCSA and FatCSA remains unchanged; in JSLE patients, SSIp is stable in comparison to JIA and controls without any difference between the two groups.
CONCLUSIONS: The evaluation of bone density and structure parameters in JSLE patients highlights significant differences compared with JIA patients and controls. These data might indicate a different pathogenesis of bone damage in the two entities, and suggest a different diagnostic and therapeutic approach to improve the peak bone mass.
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