1,720,975 research outputs found
Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene
No full textTerminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes
for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26
monosomy in a family with microdeletion of 15q26.3 not involving IGF1-R gene
Unforgettable cases in pediatric general practice: HyperCPKemia (high creatine phosphokinase blood levels), not just myopathy [IperCPKemia, non solo miopatie]
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Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report
No full textSitosterolemia shares clinical and biochemical features with homozygous familial hypercholesterolemia. Nevertheless, it is impressively responsive
to cholesterol-lowering diet. In our report, we demonstrate a rapid reduction of severe hypercholesterolemia in response to dietary
restriction in a young patient leading to the diagnosis of this rare disease. Early identification and treatment may prevent premature atherosclerosis
SHORT STATURE HOMEOBOX-CONTAINING GENE AND IDIOPATHIC SHORT STATURE
No full textThe term idiopathic short stature (ISS) refers to patients who are short due to various unknown reasons. Although it is clear that multiple factors contribute to final height, genetic factors play a crucial role. Mutations of a human homeobox gene, short stature homeobox-containing (SHOX) gene, have been shown to be associated with the short stature phenotype in patients with Turner syndrome, most patients with Leri-Weill dyschondrosteosis and some cases of ISS. The prevalence of SHOX anomalies in subjects previously recognized as having ISS has been estimated at 2.4% in a large series of ISS individuals. This review focuses on the functional properties of the SHOX gene and its linkage to ISS
The impact of BMI on long-term anthropometric and metabolic outcomes in girls with idiopathic central precocious puberty treated with GnRHas
Full text linkBackgroundGonadotropin-releasing hormone analogs (GnRHas) are effective in increasing the final height of children with idiopathic central precocious puberty (ICPP). However, in previous years, some transient metabolic complications have been described during this treatment, for which there are no long-term outcome data. Our study aimed to evaluate the efficacy of GnRHas and clarify if body mass index (BMI) at diagnosis of ICPP could influence long-term outcomes. MethodsThis was an observational, retrospective study that recruited a cohort of girls with ICPP. Data for anthropometric measures, fasting lipid profile, and glucose metabolism were collected at baseline [when GnRHas treatment started (T1)], at the end of the treatment (T2), and near-final height (nFH) or final height (FH) (T3). Predicted adult height (PAH) was calculated at T1 following Bayley and Pinneau's method. Analysis was carried out using BMI standard deviation score (SDS) categories at T1 (group A, normal weight, vs. group B, overweight/obese). ResultsFifty-seven girls with ICPP who were treated with GnRHas were enrolled in the study (group A vs. group B: 33 vs. 24 patients, aged 7.86 +/- 0.81 vs. 7.06 +/- 1.61 years, respectively; p < 0.05). In the study population, nFH/FH was in line with the target height (TH) (p = 0.54), with a mean absolute height gain of 11.82 +/- 5.35 cm compared with PAH. Even if the length of therapy was shorter (group A vs. group B: 1.84 +/- 2.15 vs. 2.10 +/- 0.81 years, respectively; p < 0.05) and the age at menarche was younger (group A vs. group B: 10.56 +/- 1.01 vs. 11.44 +/- 0.85 years, respectively; p < 0.05) in group B than in group A, the nFH/FH gain was still comparable between the two groups (p = 0.95). At nFH/FH, BMI SDS was still greater in group B than in group A (p = 0.012), despite the fact that BMI SDS significantly increased in group A only (p < 0.05). Glucose metabolism got worst during GnRHa with a complete restoring after it, independently from pre-treatment BMI. The ratio of low-density to high-density lipoprotein cholesterol transiently deteriorated during treatment with GnRHas in group A only (p = 0.030). ConclusionsOur results confirm the effectiveness of treatment with GnRHas on growth and do not support the concern that being overweight and obese can impair the long-term outcomes of GnRHas therapy. However, the observed transient impairment of metabolic parameters during treatment suggests that clinicians should encourage ICPP girls treated with GnRHas to have a healthy lifestyle, regardless of their pretreatment BMI
Quality of life in children and adolescents with type 1 diabetes and coeliac disease.
No full textHealth-related quality of life (HRQOL) is an important health outcome and a well-know indicator of the long-term consequences of chronic diseases that affect the quality of life (QOL). Aim of our study was to investigate general and HRQOL of children with type 1 diabetes (T1DM) and subjects with coeliac disease (CD) compared to healthy controls. We studied 101 outpatients: 35 children with T1DM (12.8 ± 2.85 years, duration of T1DM 60.5 ± 33.4 months), 32 subjects with CD (9.60 ± 2.61 year, duration of CD 52.0 ± 47.9 months), and 34 controls children matched for age and sex. All subjects were assed using the Paediatric Quality of Life Inventory (PedsQL) Generic Core Scales to measure HRQOL with 23 items included in 4 scales. T1DM patients showed a satisfactory metabolic control HbA1c (8.06 ± 0.75%). Twenty-one out of 32 CD subjects showed a strict dietetic control. We demonstrated that social functioning (fx), school (fx), psychosocial health (fx), and total scale were significantly different between groups; the major concern was related to emotional (fx). Our results demonstrate that children and adolescents with chronic disease, despite a good adherence to therapy, have impairment in psychosocial health (fx). Our data disagree with
common opinion that children with CD have a better adaptation and functioning. These findings contribute significant information on the effects of pediatric chronic conditions on generic QOL from the perspectives of children. It is conceivable that an immediate multidisciplinary approach to patients with T1DM
can be responsible for this differences
High levels of serum perfluorinated compounds in children and adolescents with endocrine autoimmune disease
No full textBackground: Impairments of endocrine system may be associated with exposure to certain chemical compounds. Much attention has recently focused on interference with thyroid function in relation to exposure to endocrine disruptors chemicals among which perfluorinated compounds (PFCs) are considered a priority research issue. Perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA) are widely diffused since used in the productions of polymers, additives, adhesives, cosmetics, insecticides and many other uses. PFCs are characterized by a high potential to bioaccumulate, by binding proteins, aspect that allows transmission of contamination through food chains and retention in the body, once assumed.
Objective: Aim of this study is to assess PFCs concentrations in children and adolescents with type 1 diabetes (T1DM) compared to healthy controls.
Methods: Forty-four children and adolescents were recruited and subdivided in the following groups: (1) twenty-five subjects (6.11 ± 3.33 years.) with T1DM and (2) nineteen healthy controls matched for age and gender. Blood samples to assay PFCs were collected and stored few days after T1DM was diagnosed. PFOS and PFOA have been extracted following an ion-pairing extraction procedure and determined by HPLC-ESI-MS. Nonparametric statistical analysis was performed.
Results: PFOS concentrations resulted significantly higher in T1DM patients respect to controls (1.53 ± 1.50 vs. 0.55 ± 0.15 ng/ml, respectively; P = 0.0001, Mann–Whitney U-test). No difference was found in PFOA levels (0.53 ± 0.09 vs. 0.50 ± 0.06 ng/ml, respectively; P = 0.148, Mann–Whitney Utest).
Conclusions: Our data suggests that higher serum levels of PFOS may be considered as a biomarker of exposure and susceptibility to develop TIDM. Further studies are necessary to better understand the role of this and other chemical compound as triggers of autoimmune endocrine diseases during childhood
Endothelial function in adolescents with type 1 diabetes mellitus (TIDM) [Funzione endoteliale in adolescenti con diabete di tipo 1],
No full textPatients with type 1 diabetes mellitus (T1DM) have an increased risk of cardiovascular complications related to the duration of diabetes and the degree of glycemic control. Impared flow-mediated dilation (FMD) has been used to evaluate the vascular function. Aim is to evaluate longitudinally changes of FMD in T1DM adolescents. Methods. Twenty-five adolescents (14 males and 11 females, aged 12.9 ± 2.3 years) with T1DM (duration of disease 54.1 ± 41.1 months) entered the study. In all patients glycaemia, glycated haemoglobin (HbA1c), lipid values, and FMD were determined at the beginning and after 30.20 months. Vascular function was assessed by measurement of endothelium-dependent vasodilatation of the brachial artery using a high-sensibility ultrasound system. FMD was expressed as percentage change of diameter of the artery following reactive hyperemia from baseline. Results. At the end of the study, the mean value of FMD was significantly worsted (6.8 ± 11.8 vs 1.4 ± 7.8; p = 0.04). No correlation was demonstrated between FMD and lipid profile and HbA1c. Longitudinally boys had significantly lower FMD than girls (-2.3 ± 6.3 vs 6.4 ± 6.8; p = 0.002). Conclusion. Adolescents with T1DM have a worse FMD, more evident in males, and apparently unrelated to glycemic control
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