Letters to the Editor: Why are Children with Klinefelter Syndrome Tall? [0.03%]
读者来信：为什么克莱恩费尔特综合征的儿童比较高？
Alma Kamar-Matias,Zvi Laron
Alma Kamar-Matias
Genetic and Environmental Factors in the Pathophysiology of Hashimoto's Thyroiditis [0.03%]
桥本甲状腺炎病理生理学中的遗传和环境因素
Maria Lucia Sur,Remus Gaga,Călin Lazăr et al.
Maria Lucia Sur et al.
Finding multiple familial patients with Hashimoto thyroiditis in our clinic a search in the literature confirms that genetic factors, in addition to environmental factors, seem involved in the etiology of this disease. ...
New Insights into Pheochromocytoma Biology: the Role of the Insulin - Like Growth Factor 1 (IGF1) System [0.03%]
嗜铬细胞瘤生物学的新见解：胰岛素样生长因子1（IGF1）系统的作用
Patricia A Pennisi,María Celia Fernández,Ayelen Martin
Patricia A Pennisi
Pheochromocytomas/paragangliomas (PCCs/PGLs) are rare neuroendocrine tumors, developed from chromaffin cells derived from the neural crest. From a genetic point of view PCCs/PGLs are divided as sporadic cases, and inherited cases as part of...
Inderpal Singh Kochar,Rashim Chugh
Inderpal Singh Kochar
Skeletal dysplasias are the disorders of the skeletal and cartilaginous tissues. Short stature is the hallmark presentation. Achondroplasia is the commonest skeletal dysplasia. Growth hormone (GH) has been widely used in children with achon...
Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease [0.03%]
人类粘多糖贮积症ⅠH型和该疾病的动物模型中的多发性骨发育不全
Christiane S Hampe,Lynda E Polgreen,Troy C Lund et al.
Christiane S Hampe et al.
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to modera...
Maria Adelia Faleiro Santana Silva,Paula Dechichi,Pedro Henrique Justino Oliveira Limirio
Maria Adelia Faleiro Santana Silva
Childhood obesity is a considerable worldwide health problem and a major risk factor for several chronic diseases. Fat rich diets result in altered serum levels of lipids, cytokines and hormonal factors, which influence skeletal acquisition...
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review [0.03%]
WT1基因突变导致的Frasier综合症中XY性腺发育不全的特殊表现及文献复习
Eran Lavi,Mahmud Zighan,Abdulsalam Abu Libdeh et al.
Eran Lavi et al.
Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. ...
Mirjam Ea Scheffer-Rath,Annemieke M Boot
Mirjam Ea Scheffer-Rath
Vitamin D is important for skeletal growth, bone mineralization and dental health. Vitamin D deficiency is reported in many countries, may have several causes and can cause rickets in children. A guideline with recommendations of vitamin D ...
For Debate: The Two Paths of Growth Hormone (Excess and Deficiency): Both Roads Uniquely Lead to Diabetes Mellitus [0.03%]
讨论话题：生长激素的两条增长路径（过高和过低）与糖尿病的关系
Rohan K Henry
Rohan K Henry
Glucose dysregulation (GD), a feature of growth hormone excess, in the setting of acromegaly is well known by clinicians. However, less well known is that GD may be a feature of growth hormone deficiency. The fact that either ends of the sp...
For Debate: The Controversy whether Rotavirus Vaccination Attenuates the Incidence of Childhood Type 1 Diabetes [0.03%]
观点之争：轮状病毒疫苗能否降低1型糖尿病发病率？
Orit Blumenfeld,Christiane S Hampe,Lester Shulman et al.
Orit Blumenfeld et al.
Recent epidemiological surveys performed in Australia, USA and Israel demonstrate that Rotavirus vaccination correlates with an attenuated prevalence and/or incidence of early childhood diabetes (T1D). Other studies failed to confirm the ab...