Min Nie

Clinical characteristics of chinese patients with autosomal dominant hypocalcemia type 1: a single-center study

Yiyang Gao, Yue Jiang, Yabing Wang, Jing Yang et autres

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hUC-MSCs exosomes-loaded hydrogels for systemic lupus erythematosus wound treatment

Defang Meng, Danqing Huang, Xiaoquan Wei, Min Nie et autres

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The Efficacy of Semaglutide on Hypothalamic Obesity Caused by Craniopharyngioma Surgery

Xi Wang, Hailu Ma, F Q Wang, Hongmei Long et autres

BACKGROUND: Hypothalamic obesity, weight gain dominantly due to hypothalamic dysfunction, is a challenge for patients with craniopharyngioma surgery. Semaglutide, a long-acting GLP-1 receptor agonist, has shown promise in obesity management. However, the efficacy in this specific patient population remains underexplored. OBJECTIVE: This …

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Hyperprolactinemia Is Associated With Height Attainment Within or Above Target Height in Adult Patients With Pituitary Stalk Interruption Syndrome

Yuhan Wang, Jiangfeng Mao, Xi Wang, Min Nie et autres

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Two novel rare variants in the PTH gene found in patients with hypoparathyroidism

Yue Jiang, An Song, Jiajia Wang, Xinqi Cheng et autres

Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) deficiency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) of PTH through in vitro …

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Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation

Xiaoxia Zhang, Yinjie Gao, Lin Lü, Yaqing Cao et autres

CONTEXT: 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic variants in CYP21A2. High homology between CYP21A2 and its pseudogene CYP21A1P causes mismatches, leading to deletions and CYP21A1P/CYP21A2 chimeras. OBJECTIVE: To detect chimeric CYP21A1P/CYP21A2 in 21-OHD patients using long-read sequencing (LRS) and analyze genotype-phenotype …

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MYRF Variants in Patients With 46, XY Differences/Disorders of Sex Development and Literature Review

Wei Zhang, Xi Wang, Jiangfeng Mao, Yaqing Cao et autres

46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study …

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Body Composition, Adipocytokine, and Metabolic Parameters in Men With Congenital Hypogonadotropic Hypogonadism

Rui Zhang, Jiangfeng Mao, Min Nie, Xi Wang et autres

OBJECTIVE: This study aimed to evaluate the long-term effects of hormone therapies on the body composition, adipokines and metabolic parameters of adult men with congenital hypogonadotropic hypogonadism (CHH). METHODS: Sixty-six patients with CHH and 21 healthy controls were recruited. Patients were divided …

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Mechanism of female CHH caused by compound heterozygous mutations in the LHB gene

Hailu Ma, Chenyang Li, Wenjing Wu, Zhao Sun et autres

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Huc-Mscs Exosomes-Loaded Hydrogels for Systemic Lupus Erythematosus Wound Treatment

Meng Du, Danqing Huang, Min Nie, Xiulan Zheng et autres

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Evolutionary Characteristics in Primary Aldosteronism Patients

Yinjie Gao, Yue Zhou, Xiaoyan Chang, Min Nie et autres

BACKGROUND: Primary aldosteronism is predominantly caused by excessive aldosterone production from the adrenal cortex, and the aldosterone-producing structures could take many forms, like adenomas, nodules, micronodules, and so on. Most studies of primary aldosteronism were limited to the hotspot driver genes responsible …

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Efficacy of compound sodium acetate Ringer’s solution in early fluid resuscitation for children with septic shock: a preliminary retrospective cohort study

Jiaqin Li, Min Nie, Ziwei Lu, Y. Wang et autres

BACKGROUND: The effectiveness of acetated Ringer's solution in pediatric shock has received little attention. This study aimed to assess the clinical outcomes of using compound sodium acetate Ringer's solution (AR) for fluid resuscitation in children with septic shock. METHODS: We retrospectively analyzed …

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