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Hormone Research in Paediatrics
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#1Sofia-Maria Genitsaridi (UoA: National and Kapodistrian University of Athens)H-Index: 1
#2Christos Giannios (UoA: National and Kapodistrian University of Athens)H-Index: 1
Last. Eleni Terzioglou (UoA: National and Kapodistrian University of Athens)
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BACKGROUND Obesity in childhood and adolescence represents a major health problem of our century. In Greece, 30-35% of children and adolescents are overweight or obese. Objective and Hypotheses: To investigate the effectiveness of a comprehensive multidisciplinary personalized management plan at reducing the prevalence of overweight and obesity in childhood and adolescence. PATIENTS AND METHODS One thousand (n = 1,000) children and adolescents aged 2-18 years (mean age ± SD: 10.09 ± 2.86 years; ...
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#1Lucy A Hastings (UNSW: University of New South Wales)
#2John Preddy (UNSW: University of New South Wales)H-Index: 1
Last. Charles F. Verge (UNSW: University of New South Wales)H-Index: 30
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Background Diazoxide is widely used to manage congenital hyperinsulinism and is generally well tolerated. Pericardial effusion is not a recognized side effect of diazoxide, apart from 2 single case reports. Case description Three patients with congenital hyperinsulinism developed pericardial effusion at the ages of 7 weeks, 8 months, and 17 years. The duration of diazoxide treatment (10-15 mg/kg/day) was 6.5 weeks, 5 months, and 17 years, respectively. There was no evidence of fluid overload or ...
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#1Willem J. M. Gerver (Maastricht University Medical Centre)H-Index: 5
#2Alexandra Gkourogianni (KI: Karolinska Institutet)H-Index: 2
Last. Jan M. Wit (LEI: Leiden University)H-Index: 68
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BACKGROUND/OBJECTIVES In the clinical assessment of a short or tall child, estimating body disproportion is useful to assess the likelihood of a primary growth disorder, e.g., skeletal dysplasia. Our objectives were (1) to use data from the Maastricht study on healthy children (2-17 years) to calculate relative arm span (AS) for height (H) to serve as age references for clinical purposes; (2) to assess its age and sex dependency; and (3) to investigate relative AS adjustment for age and sex in i...
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#1Maja Zimmermann (Boston Children's Hospital)
Last. Bettina Gohlke (Boston Children's Hospital)H-Index: 6
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OBJECTIVE The aim of this study was to consider sleep apnea in Prader-Willi syndrome (PWS) children depending on age at growth hormone (GH) therapy onset. STUDY DESIGN We analyzed longitudinally cardiorespiratory polygraphy of 62 PWS children (aged 0-2.5 years at baseline). Twenty-one children (Group A) started GH-therapy during and 41 children (Group B) after their first year of life. Data were acquired before, at 3 and 6 months, then 1.2, 2.2, and 3.2 years after GH onset. Outcomes were determ...
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INTRODUCTION We present a patient with co-existence of 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature. CASE A female infant (46,XX) born at 34/40 weeks' gestation, weighing 2.67 kg (-1.54 standard deviation score) to non-consanguineous parents presented on day 4 of life with significant weight loss. Subsequent investigations revealed hyponatraemia, hypochlor...
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#1Soncka Jazbinsek (Boston Children's Hospital)H-Index: 1
#2Danijela Kolenc (University of Ljubljana)
Last. Mojca Jensterle (University of Ljubljana)H-Index: 1
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OBJECTIVE The major part of craniopharyngioma (CP) morbidity is the tumor and/or treatment-related damage, which results in impaired function of the hypothalamic-pituitary axes and metabolic derangements. The aim of the study was to analyze the prevalence of long-term endocrine and metabolic comorbidities in a national cohort of CP patients based on the age at diagnosis and histology criteria. DESIGN A retrospective-prospective longitudinal cohort analysis. METHODS Forty-six patients with CP tre...
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BACKGROUND FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of FOXL2 gene alteration in a series of patients with congenital hypopituitarism and eyelid anomalies. METHODS FOXL2 was analyzed in 10 patients with hypopituitarism (ranging from isolated GH...
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#1Daniela Choukair (Heidelberg University)
#2Birgit Eberle (Heidelberg University)
Last. Carina Klutmann (Boston Children's Hospital)
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BACKGROUND: Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. METHODS: To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most relevant variants were analyzed using in silico prediction tools. The most promising candidate gene, transient receptor potential channel 4-associated protein (TRPC4AP), was sequenced in 179 further patients with TD. Expression of TRP...
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#1Francisca Grob (UC: Pontifical Catholic University of Chile)H-Index: 3
#2Margaret Zacharin (Royal Children's Hospital)H-Index: 33
BACKGROUND AND OBJECTIVE: Gastrointestinal (GI) polyps with unknown malignant potential and a platelet storage pool deficiency that increases the risk of severe intraoperative and other types of bleeding have been identified in McCune-Albright syndrome (MAS). The natural course of these disorders has not been well characterized. The aim of this study was to report the follow-up of GI polyps and platelet dysfunction (PD) in a cohort of 28 patients with MAS. METHODS: Twenty-eight patients with MAS...
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#1Maria E. Street (AUSL: Academy for Urban School Leadership)H-Index: 23
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