Y P Li

Guangdong Medical College

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Guoxin Nan

Children's Hospital of Chongqing Medical University

Tingting Quan

Shanxi Medical University

Weibo Xia

Affiliated Eye Hospital of Wenzhou Medical College

Xue-zhong Xing

Chinese Academy of Medical Sciences & Peking Union Medical College

Xiaolu Meng

Peking Union Medical College Hospital

Weiyue Zhu

Dongguan People’s Hospital

Qineng Mo

Guangdong Medical College

Guo-Hau Gou

National Defense Medical Center

Yan Jiang

Sichuan University

Chunli Ling

Dongguan People’s Hospital

Cooperative Institutions

Chinese Academy of Medical Sciences & Peking Union Medical College

Dongguan People’s Hospital

Peking Union Medical College Hospital

Weatherford College

Guangdong Medical College

Radiall (France)

Credo Reference (United States)

National Health and Family Planning Commission

Sun Yat-sen University

Capital Medical University

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[Tenofovir amibufenamide treatment in a case of hepatitis B virus-related decompensated liver cirrhosis].

PubMed (2024)

Y P Li Guo-Hau Gou S S Dang

Tenofovir

10.3760/cma.j.cn501113-20240906-00481

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[Clinical characteristics of adult-onset primary hypoparathyroidism: a retrospective analysis of 200 cases].

PubMed (2017)

Tingting Quan Y P Li O Wang Yiran Jiang Weibo Xia

Objective: To study the clinical characteristics of primary hypoparathyroidism in adults. Methods: The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively. Among them, 128 cases were followed up for a median period of 3 years. Results: The major manifestations at their first visits were tetany and numbness in the distal extremities(81.5%, 163/200 and 62.0%, 124/200). Thirty-two percent of the cases (62 cases) had history of seizures, and 60.9%(98/161) and 74.4%(96/129) of them were with intracerebral calcifications and cataracts, respectively.Most of subjects(155/200)had more than one year delay in diagnosis. Hypercalciuria occurred in 67.2%(86/128) of the cases during the follow-up. No significant differences in the clinical characteristics and biochemical markers between the hypercalciuria subjects and the non-hypercalciuria subjects. Renal nephrocalcinosis or stones were found in 6.5%(5/77) of the cases, and kidney function decreased in 6.6%(6/91) of the patients. Kidney function was negatively associated with age and duration of disease. Conclusions: The predominant manifestations of primary hypoparathyroidism in adults included tetany and numbness in the distal extremities and seizures. It is often misdiagnosed. Calcium supplement combined with vitamin D or its metabolites effectively relieve clinical symptoms and signs. The serum and urinary calcium levels should be monitored frequently to reduce renal complications.

Hypoparathyroidism

Tetany

Nephrocalcinosis

Urinary calcium

10.3760/cma.j.issn.0578-1426.2017.01.006

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[Association of vitamin D receptor gene polymorphisms with idiopathic hypoparathyroidism phenotypes].

PubMed (2017)

Tingting Quan Min Nie Y P Li Yan Jiang Ming Li

Objective: To explore the association of vitamin D receptor (VDR) gene polymorphisms with idiopathic hypoparathyroidism (IHP). Methods: Two hundred and three patients with IHP and 209 healthy age- and sex-matched subjects were recruited at Peking Union Medical College Hospital between December 1987 and December 2015 as case group and control group, respectively. The VDR gene polymorphisms including rs739837, rs3847987 and rs2228570 were analyzed by Sequenom Mass Array. The frequency of different genotypes and alleles was detected, then their association with pathogenesis of IHP was analyzed. The clinical characteristics, biochemical indicators were collected to explore the genotype-phenotype relationship. The role of reactions to vitamin D treatment were compared between patients with different genotypes. Results: There was no significant difference in the genotypes and allele frequency distribution of SNPs between the two groups (all P>0.05). However, in the initially-treated patients, the genotypes of rs739837 were related to serum calcium level (r=0.186, P=0.026). And patients with GG genotype of rs2228750 had higher level of urine calcium than GA and AA (277.7 mg vs 141.1 mg, P=0.024) after treating with oral vitamin D(3) and calcium. Conclusions: Functional SNPs of VDR gene including rs739837, rs3847987 and rs2228570 might be irrelevant to the pathogenesis of IHP. But the genotypes of rs739837 were related to serum calcium level, and rs2228570 may have an effect on the different responses to vitamin D and its analogues in IHP patients.目的：探讨维生素D受体(VDR)基因多态性与特发性甲状旁腺功能减退症(IHP)发病及临床表型间的相关性。方法：纳入1987年12月至2015年12月于北京协和医院内分泌科门诊就诊的IHP共203例作为病例组，年龄及性别匹配的209名健康人作为对照组，通过Sequenom Mass Array方法检测VDR基因rs739837、rs3847987、rs2228570位点的基因分型，计算等位基因和基因型分布频率，分析其与IHP发病的相关性。在IHP患者中比较各SNP位点不同基因型的临床特点及生化指标，以探索上述不同SNPs分型与IHP临床表型的关系，并在接受普通维生素D治疗的IHP患者中比较不同基因型间治疗效果的差异。结果：病例组与对照组的VDR基因上述SNP位点基因型及等位基因频率分布差异均无统计学意义(均P>0.05)。但在初治IHP患者中，rs739837基因型与血钙水平相关(r＝0.186，P＝0.026)；且rs2228570位点的GG基因型患者接受普通维生素D联合钙剂治疗后的24 h尿钙水平较GA及AA基因型者升高(277.7 mg比141.1 mg，P＝0.024)。结论：VDR基因的rs739837、rs3847987和rs2228570功能性SNP位点可能与IHP发病无关，但rs739837基因型与血钙水平相关，VDR基因rs2228570多态性可能对IHP维生素D制剂治疗效果存在影响。.

Hypoparathyroidism

Pathogenesis

10.3760/cma.j.issn.0376-2491.2017.36.011

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Ulnar bone tuberculosis in children: Case report and literature review

Medicine (2024)

Qineng Mo Xiaohua Wei Xiansheng Xia Y P Li Guoxin Nan

Tuberculosis of the long tubular bones in children's extremities is infrequent, particularly in the ulna. Early diagnosis poses significant challenges. This report presents a case involving a 2-year-old child with tuberculosis of the ulnar bone, accompanied by a comprehensive review of pertinent literature. The purpose of this study is to share diagnostic and therapeutic experiences and provide potentially valuable insights.

10.1097/md.0000000000038611

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Radial nerve palsy in the newborn combined with congenital radial head dislocation: Case report and literature review

Medicine (2024)

Y P Li Guoxin Nan Jiahui Chen Yongyao Jiang Weiyue Zhu

Rationale: Radial nerve palsy in the newborn and congenital radial head dislocation (CRHD) are both rare disorders, and early diagnosis is challenging. We reported a case of an infant with concurrent presence of these 2 diseases and provide a comprehensive review of the relevant literature. The purpose of the study is to share diagnostic and treatment experiences and provide potentially valuable insights. Patient concerns: A newborn has both radial nerve palsy and CRHD, characterized by limited wrist and fingers extension but normal flexion, normal shoulder and elbow movement on the affected side, characteristic skin lesions around the elbow, and an “audible click” at the radial head. The patient achieved significant improvement solely through physical therapy and observation. Diagnoses: The patient was diagnosed with radial nerve palsy in the newborn combined with CRHD. Interventions: The patient received regular physical therapy including joint function training, low-frequency pulse electrical therapy, acupuncture, paraffin treatment, as well as overnight splint immobilization. Outcomes: The child could actively extend the wrist to a neutral position and extend all fingers. Lessons: If a neonate exhibits limited extension in the wrist and fingers, but normal flexion, along with normal shoulder and elbow movement, and is accompanied by skin lesions around the elbow, there should be a high suspicion of radial nerve palsy in the newborn.

Radial nerve

10.1097/md.0000000000037146

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