10 research outputs found

    Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents

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    Background: The obesity paradox refers to a category of subjects who may be less prone to develop co-morbidities, such as type 2 diabetes. Cardiorespiratory fitness (CRF) has been identified as one of the key factors. We aimed at exploring the difference in insulin metabolism between fit and unfit obese adolescents. Methods: We recruited 22 obese adolescents and assessed CRF during an incremental treadmill test. According to a cut-off at 80% of predicted maximal oxygen consumption (VO2max), subjects were separated into low or normal CRF. Body composition was determined by densitometry. Serum levels of insulin were measured sequentially during an oral glucose tolerance test and insulin secretion responses were calculated. Results: Compared to adolescents with normal CRF, the ones with low CRF had higher insulin resistance indices (p=0.023) and insulin secretion response (p=0.010), independently of the body mass index z-score. Conclusions: Interventions in obese adolescents should focus on the maintenance or improvement of CRF to at least 80% of predicted VO2max. Indeed, this cut-off was significantly related to insulin secretion responses, independently of the adiposity level. A CRF above the proposed cut-off may prevent the development of insulin resistance

    Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind

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    Das 1921 entdeckte Insulin wurde 1922 erstmals als Therapie für Typ-1-Diabetes eingeführt. Hundert Jahre später wird es immer noch als einzige medikamentöse Behandlung eingesetzt. Die jüngsten Fortschritte haben zu einer erheblichen Optimierung der Stoffwechselkontrolle beigetragen. Einleitung Typ-1-Diabetes (T1D) ist eine der häufigsten chronischen Erkrankungen bei Kindern, mit einer jährlichen Inzidenzzunahme von 3% [1]. Die Ätiologie des T1D ist unbekannt, aber eine Dysregulation der Autoimmunität, dokumentiert durch die Zirkulation von Autoantikörpern, sowie eine genetische Prädisposition sind ursächlich beteiligt. Das Risiko, an T1D zu erkranken, beträgt bei Kindern 0,4%; gibt es bereits an T1D-erkrankte Familienangehörige, steigt das Risiko um das Zehnfache. Neueste Daten weisen auf einen deutlichen Anstieg der weltweiten Inzidenz während der Corona-Pandemie hin [2–5]. Ziel dieses Beitrags ist es, die neuesten Entwicklungen und aktuellen Herausforderungen bei der Behandlung des T1D bei Kindern darzustellen

    Predictors of surgical complications in boys with hypospadias: data from an international registry

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    Background: Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence. Methods: Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development (I-DSD) Registry. Logistic regressions, fisher’s exact tests and spearman’s correlation tests were performed on the data to assess associations between clinical factors and complication rates. Results: Of the 551 eligible boys, data were available on 160 (29%). Within the cohort, the median (range) External Masculinization Score (EMS) was 6 (2, 9). All presented with one or more additional genital malformation and 61 (38%) presented with additional extragenital malformations. Disorders of androgen action, androgen synthesis and gonadal development were diagnosed in 28 (18%), 22 (14%) and 9 (6%) boys, respectively. The remaining 101 (62%) patients were diagnosed as having non-specific 46,XY Disorders of Sex Development. Eighty (50%) boys had evidence of abnormal biochemistry, and gene variants were identified in 42 (26%). Median age at first hypospadias surgery was 2 years (0, 9), and median length of follow-up was 5 years (0, 17). Postsurgical complications were noted in 102 (64%) boys. There were no significant associations with postsurgical complications. Conclusions: Boys with proximal hypospadias in the I-DSD Registry have high rates of additional comorbidities and a high risk of postoperative complications. No clinical factors were significantly associated with complication rates. High complication rates with no observable cause suggest the involvement of other factors which need investigation

    Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

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    OBJECTIVES We aimed to identify the origin of atypical diabetes in a family with four generations of diabetes from South Asia. The family members showed different clinical phenotypes. Members of generation one to three were presumed to have type 2 diabetes and generation four to have type 1 diabetes. CASE PRESENTATION We performed a genetic analysis of the family using targeted high throughput sequencing. CONCLUSIONS We identified a novel nonsense variant in the neurogenic differentiation 1 (NEUROD1) gene, co-segregating with diabetes. The variant was located in the DNA-binding domain, altering a protein residue that was very well conserved among different species

    Factors Affecting Cardiovascular Risk in Children, Adolescents, and Young Adults with Type 1 Diabetes

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    Cardiovascular risk and obesity are becoming major health issues among individuals with type 1 diabetes (T1D). The aim of this study was to evaluate cardiovascular risk factors and obesity in youth with T1D in Lithuania. Methods. 883 patients under 25 years of age with T1D for at least 6 months were investigated. Anthropometric parameters, blood pressure, and microvascular complications were evaluated, and the lipid profile and HbA1c were determined for all patients. Results. Study subjects’ mean HbA1c was 8.5±2%; 19.5% were overweight and 3.6% obese. Hypertension and dyslipidemia were diagnosed in 29.8% and 62.6% of participants, respectively. HbA1c concentration was directly related to levels of total cholesterol (r=0.274, p<0.001), LDL (r=0.271, p<0.001), and triglycerides (r=0.407, p<0.001) and inversely associated with levels of HDL (r=0.117, p=0.001). Prevalence of dyslipidemia increased with duration of diabetes (p<0.05). Hypertension was more prevalent in overweight and obese compared to normal-weight patients (40.6 and 65.6 vs. 25.6%, respectively, p<0.001). Frequency of microvascular complications was higher among patients with dyslipidemia (27.2 vs. 18.8%, p=0.005) and among those with hypertension (25.9 vs. 23.2%, p<0.001). Conclusion. The frequency of cardiovascular risk factors is high in youth with T1D and associated with diabetes duration, obesity, and metabolic control

    Fractionated stereotactic radiotherapy with static field conformal and non coplanar arcs for pediatric patients with craniopharyngioma: analysis of long term visual outcome and endocrine toxicity

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    We assessed the efficacy and the toxicity for pediatric craniopharyngioma patients of fractionated stereotactic radiotherapy (FSRT). Between May 2000 and May 2009, 9 patients (male to female ratio, 5:4) with craniopharyngiomas underwent FSRT (median dose, 54 Gy). Among the 9 patients, 6 received radiation therapy (RT) for recurrent tumors and 3 for residual disease as adjuvant therapy after incomplete surgery. Median tumor 3 volume was 2.3 cm (range, 0.1-5.8). The median target coverage was 93.7% (range 79.3-99.8%). The median conformity index was 0.94 (range, 0.6-1.4). Dose to the hippocampal region was assessed for all patients. After a median follow-up of 62.5 months (range, 32-127)the treated volume decreased in size in four of eight patients (50%). One patient was lost to follow-up. Local control and survival rates at 3 years were 100% and there were no marginal relapses. One patient, with a chronic bilateral papillary oedema after surgery, visual defect deteriorated after FSRT to a complete hemianopsia. One male patient with normal pituitary function before FSRT presented with precocious puberty at the age of 7.4 years, 24 months after FSRT. Four patients (50%) were severely obese at their last visit. FSRT is a safe treatment option for craniopharyngioma after incomplete resection

    [Enfants et adolescents avec variations du développement sexuel]

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    Wie werden heute Kinder mit unklarem Geschlecht in der Schweiz betreut? Diese und ähnliche Fragen beschäftigen nicht nur Spezialist(inn)en und Betroffene, sondern auch die Öffentlichkeit. Die Nationale Ethikkommission hat 2012 Empfehlungen zum Umgang mit Menschen mit Varianten der Geschlechtsentwicklung erarbeitet.Comment les enfants de sexe indéterminé sont-ils aujourd’hui pris en charge en Suisse? Cette question et des questions similaires préoccupent non seulement les spécialistes et les personnes touchées, mais également la société en général. En 2012, la Commission nationale d’éthique dans le domaine de la médecine humaine a élaboré des recommandations relatives à l’attitude à adopter à l’égard des personnes avec variations du développement sexuel
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