Search Results - "Buganza, Raffaele"
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Mediterranean Dietary Treatment in Hyperlipidemic Children: Should It Be an Option?
Published in Nutrients (23-03-2022)“…Diet is considered the cornerstone of lipid management in hyperlipidemic children but evidence to demonstrate the effects of nutrient benefits on the lipid…”
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Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism
Published in Endocrine (01-02-2020)“…Background Hypoparathyroidism is characterized by the absence or inadequately low circulating concentrations of the parathyroid hormone, resulting in…”
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Menorrhagia as main presentation sign of severe hypothyroidism in a pediatric patient: a case report
Published in Italian journal of pediatrics (11-09-2022)“…Abstract Background The relative high frequency of menstrual irregularities in the first two–three years after menarche may lead to the risk of underestimation…”
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Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma
Published in Italian journal of pediatrics (11-05-2020)“…Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the…”
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Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life
Published in Journal of cardiovascular development and disease (01-04-2024)“…The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C)…”
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Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
Published in Frontiers in endocrinology (Lausanne) (2024)“…Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a…”
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Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature
Published in Case reports in endocrinology (2021)“…Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the…”
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Pediatric Myxedema Due to Autoimmune Hypothyroidism: A Rare Complication of a Common Disorder
Published in Children (Basel) (24-03-2023)“…In children, hypothyroidism usually presents non-specific symptoms; symptoms can emerge gradually, compromising a timely diagnosis. We report the case of a…”
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SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators
Published in Italian journal of pediatrics (03-11-2020)“…Abstract Background The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this…”
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10
24 - Is obesity a risk factor for children enuresis?
Published in Continence (Amsterdam) (01-06-2023)Get full text
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11
Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study
Published in Children (Basel) (22-06-2021)“…Hypothalamic obesity (HO) is delineated by an inexorable weight gain in subjects with hypothalamic disorder (congenital or acquired). The aim of the present…”
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12
Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease
Published in Cardiogenetics (25-10-2024)“…Tangier disease (TD) is an extremely rare inherited disorder involving lipoprotein metabolism and high-density lipoprotein (HDL) recycling in particular. TD is…”
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13
Oestrogenic Activity in Girls with Signs of Precocious Puberty as Exposure Biomarker to Endocrine Disrupting Chemicals: A Pilot Study
Published in International journal of environmental research and public health (20-12-2022)“…The relationship between endocrine disrupting chemical (EDC) exposure and Precocious Puberty (PP) was investigated in this pilot study, involving girls with…”
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14
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes
Published in Genes (26-01-2021)“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), caused by mutations in the gene, is mainly characterized by the triad of…”
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Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia
Published in Genes (01-04-2024)“…Familial hypercholesterolemia (FH) comprises high LDL-cholesterol (LDL-c) levels and high cardiovascular disease risk. In the absence of pathogenic variants in…”
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Cardiovascular risk factors in children and adolescents with type 1 diabetes in Italy: a multicentric observational study
Published in Pediatric diabetes (01-12-2020)“…Aims To assess the prevalence of cardiovascular risk factors (CVRFs) and to identify the variables associated with CVRFs in a cohort of children and…”
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The treatment of obesity in children and adolescents: consensus position statement of the Italian society of pediatric endocrinology and diabetology, Italian Society of Pediatrics and Italian Society of Pediatric Surgery
Published in Italian journal of pediatrics (08-06-2023)“…This Position Statement updates the different components of the therapy of obesity (lifestyle intervention, drugs, and surgery) in children and adolescents,…”
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The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
Published in Frontiers in genetics (20-06-2022)“…Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018,…”
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Pediatric Myxedema Due to Autoimmune Hypothyroidism: A Rare Complication of a Common Disorder
Published in Children (Basel, Switzerland) (24-03-2023)Get full text
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"Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature"
Published in Case reports in endocrinology (01-01-2021)Get full text
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