Current status and progress of mucopolysaccharidosis type Ⅰ / 中华内分泌代谢杂志

Mucopolysaccharidosis type I(MPS Ⅰ), a rare autosomal recessive metabolic disease with complex clinical manifestations, often involves multiple organs and results in a heavy disease burden, for which low diagnosis rate and delayed diagnosis are common. Enzyme replacement therapy and hematopoietic stem cell transplantation are the main treatments for MPS Ⅰ, and MPS Ⅰ patients can benefit from the two therapies as shown by a large amount of research data. There is a lack of awareness of MPS Ⅰ and little research has been done on that at present in China. This article will review the epidemiological characteristics, gene mutations and clinical phenotypes, clinical manifestations, diagnosis and treatment of MPS Ⅰ for understanding the diseases comprehensively as well as promoting early diagnosis and treatment, and earlier treatment may be beneficial to patients.

Central precocious puberty with primary pigmented nodular adrenocortical disease: One case report / 中华内分泌代谢杂志

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Evaluation and management of thyroid nodules in children / 中华实用儿科临床杂志

Thyroid nodules in children exhibit differences in pathophysiology,clinical manifestation,and long-term outcomes compared with those in adults.Besides,the treatment which may be recommended for adults may not be suitable for children who are at low risk for death but at higher risk for long-term harm from exceedingly aggressive therapy.The evaluation of thyroid nodules includes risk factors,thyroid-related hormone,thyroid ultrasound and fineneedle aspiration biopsy,and so on.Benign lesions should be observed mainly by follow-up,however,for malignant lesions,total thyroidectomy or near is recommended,surveillance and follow-up should be maintained after thyroidectomy.

A proposal for the cutoff point of waist-to-height for the diagnosis of metabolic syndrome in children and adolescents in six areas of China / 中华流行病学杂志

<p><b>OBJECTIVE</b>This study aimed to determine the optimal cutoff point of Waist-to-height (WHtR) for the diagnosis of metabolic syndrome (MS) in children and adolescents in six areas of China.</p><p><b>METHODS</b>Ninety thousand two hundred and eighty four children aged 6 to 15 years old from 6 areas, including Beijing, Tianjin, Zhejiang, Shanghai, Chongqing and Nanning in China, were surveyed in a random cluster sample. Receiver operating characteristic (ROC) curve analysis was employed to determine the optimal cutoff values of WHtR for detecting the children and adolescents with two or more risk factors of MS.</p><p><b>RESULTS</b>The optimal WHtR cutoff values derived from the ROC analysis was 85(th) and 80(th) percentiles in males and females, with 6-15 years of age, respectively. The sensitivity and specificity under these cutoff values were 35.78% and 85.41% in males and 49.21% and 79.87% in females, for 6-9 years of age, while the sensitivity and specificity were 49.60% and 85.90% in males and 47.01% and 80.07% in females for 10-15 years of age. The areas under the ROC curves (AUCs) for WHtR 85(th) percentile were 0.61 and 0.64 in males and females for 6-9 years of age, and 0.68 and 0.63 in males and females for 10-15 years of age. The AUCs for WHtR 85(th) percentile in both genders were significantly larger than that for WHtR 90(th) percentile for 10-15 years of age.</p><p><b>CONCLUSION</b>Our findings indicated that the 85(th) percentile of WHtR (0.48 in both genders for 6-9 years of age, 0.48 in males and 0.46 in females for 10-15 years of age) might be an appropriate cutoff to predict the children and adolescents with two or more risk factors.</p>