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Chinese Medical Journal 2012年第14期125卷 2482-2486页

作者： ZHANG Da LU Lin YANG Hong-bo LI Mei SUN Hao ZENG Zheng-pei LI Xin-ping XIA Wei-bo XING Xiao-ping Department of endocrinology Key Laboratory of EndocrinologyMinistry of Health

Background Autosomal recessive polycystic kidney disease （ARPKD） is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 gene. Here, we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing. Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD. The mutations were identified using exome sequencing and confirmed by Sanger sequencing. Results The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes, multiple calcinosis of both kidneys, and multiple dilated bile ducts of the liver. Compound heterozygous PKHD1 gene mutations A979G and G5935A, which lead to substitution of an asparagine for an aspartate at amino acid 327 （N327D） and a glycine for an arginine at amino acid 1979 （G1979R） respectively, were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient. In addition, the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene. Conclusions We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD. Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large.

关键词： polycystic kidney, autosomal recessive PKHD1, mutation, exome sequencing

Association between sleep duration and incidence of type 2 diabetes in China: the REACTION study

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Chinese Medical Journal 2022年第10期135卷 1242-1248页

作者： Hongzhou Liu Gang Chen Junping Wen Anping Wang Yimin Mu Jingtao Dou Weijun Gu Li Zang Saichun Zhang Zhaohui Lyu Department of endocrinology The First Medical CenterChinese PLA General HospitalBeijing 100853China Department of endocrinology Fujian Provincial HospitalKey Laboratory of EndocrinologyFujian Medical UniversityFuzhouFujian 350001China

Backgrounds: Inadequate sleep duration is associated with a higher risk of type 2 diabetes and the relationship is nonlinear. We aim to assess the curve relationship between night sleep duration and the incidence of type 2 diabetes in China.Methods: A cohort of 11,539 participants from the REACTION study without diabetes at baseline (2011) were followed until 2014 for the development of type 2 diabetes. The average number of hours of sleep per night was grouped. Incidence rates and odds ratios (ORs) were calculated for the development of diabetes in each sleep duration category.Results: Compared to people who sleep for 7 to 8 h/night, people with longer sleep duration (≥9 h/night) had a greater risk of type 2 diabetes (OR: 1.27;95% CI: 1.01-1.61), while shorter sleep (<6 h/night) had no significant difference in risk of type 2 diabetes. When the dataset was stratified based on selected covariates, the association between type 2 diabetes and long sleep duration became more evident among individuals <65 years of age, male, body mass index <24 kg/m2 or with hypertension or hyperlipidemia, no interaction effects were observed. Furthermore, compared to people persistently sleeping 7 to 9 h/night, those who persistently slept ≥9 h/night had a higher risk of type 2 diabetes. The optimal sleep duration was 6.3 to 7.5 h/night.Conclusions: Short or long sleep duration was associated with a higher risk of type 2 diabetes. Persistently long sleep duration increased the risk.

关键词： Sleep duration Type 2 diabetes Prevalence Risk

Predictive factors for pituitary response to pulsatile GnRH therapy in patients with congenital hypogonadotropic hypogonadism

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Asian Journal of Andrology 2018年第4期20卷 319-323页

作者： Jiang-Feng Mao Xi Wang Jun-Jie Zheng Zhao-Xiang Liu Hong-Li Xu Bing-Kun Huang Min Nie Xue-Yan Wu Department of endocrinology Peking Union Medical College Hospital Key Laboratory of Endocrinology Ministry of Health Beijing 100730 China

Pulsatile gonadotropin-releasing hormone （GnRH） may induce spermatogenesis in most patients with congenital hypogonadotropic hypogonadism （CHH） by stimulating gonadotropin production, while the predictors for a pituitary response to pulsatile GnRH therapy were rarely investigated. Therefore, the aim of our study is to investigate predictors of the pituitary response to pulsatile GnRH therapy. This retrospective cohort study included 82 CHH patients who received subcutaneous pulsatile GnRH therapy for at least 1 month. Patients were categorized into poor or normal luteinizing hormone （LH） response subgroups according to their LH level （LH 〈2 IU 1-1 or LH P_2 IU 1-1） 1 month into pulsatile GnRH therapy. Gonadotropin and testosterone levels, testicular size, and sperm count were compared between the two subgroups before and after GnRH therapy. Among all patients, LH increased from 0.4±0.5 IUI^-1 to 7.5±4.4 IUI^-1 and follicle-stimulating hormone （FSH） increased from 1.1±0.9 IUI^-1 to 8.8±5.3 IU 1-1. A Cox regression analysis showed that basal testosterone level （6 = 0.252, P = 0.029） and triptorelin-stimulated FSH60min（13 = 0.518, P = 0.01） were two favorable predictors for pituitary response to GnRH therapy. Nine patients （9/82, 11.0%） with low LH response to GnRH therapy were classified into the poor LH response subgroup. After pulsatile GnRH therapy, total serum testosterone level was 39± 28 ng dl^-1 versus 248±158 ng d1^-1 （P=0.001）, and testicular size was 4.0±3.1 ml versus 7.9±4.5 ml （P= 0.005） in the poor and normal LH response subgroups, respectively. It is concluded that higher levels of triptorelin-stimulated FSH60min. and basal total serum testosterone are favorable predictors of pituitary LH response to GnRH therapy.

关键词： congenital hypogonadotropic hypogonadism pulsatile GnRH therapy treatment

Triceps skinfold thickness trajectories and the risk of all-cause mortality:A prospective cohort study

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World Journal of Clinical Cases 2024年第15期12卷 2568-2577页

作者： Na Yang Li-Yun He Zi-Yi Li Yu-Cheng Yang Fan Ping Ling-Ling Xu Wei Li Hua-Bing Zhang Yu-Xiu Li Department of endocrinology Key Laboratory of Endocrinology of National Health CommissionPeking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

BACKGROUND The measurement of triceps skinfold(TSF)thickness serves as a noninvasive metric for evaluating subcutaneous fat distribution.Despite its clinical utility,the TSF thickness trajectories and their correlation with overall mortality have not been thoroughly investigated.AIM To explore TSF thickness trajectories of Chinese adults and to examine their associations with all-cause mortality.METHODS This study encompassed a cohort of 14747 adults sourced from the China Health and Nutrition Survey.Latent class trajectory modeling was employed to identify distinct trajectories of TSF thickness.Subjects were classified into subgroups reflective of their respective TSF thickness trajectory.We utilized multivariate Cox regression analyses and mediation examinations to explore the link between TSF thickness trajectory and overall mortality,including contributory factors.RESULTS Upon adjustment for multiple confounding factors,we discerned that males in the‘Class 2:Thin-stable’and‘Class 3:Thin-moderate’TSF thickness trajectories exhibited a markedly reduced risk of mortality from all causes in comparison to the‘Class 1:Extremely thin’subgroup.In the mediation analyses,the Geriatric Nutritional Risk Index was found to be a partial intermediary in the relationship between TSF thickness trajectories and mortality.For females,a lower TSF thickness pattern was significantly predictive of elevated all-cause mortality risk exclusively within the non-elderly cohort.CONCLUSION In males and non-elderly females,lower TSF thickness trajectories are significantly predictive of heightened mortality risk,independent of single-point TSF thickness,body mass index,and waist circumference.

关键词： Triceps skinfold thickness Trajectory All-cause mortality Body mass index Geriatric Nutritional Risk Index

Intralesional and topical glucocorticoids for pretibial myxedema: A case report and review of literature

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World Journal of Clinical Cases 2018年第14期6卷 854-861页

作者： Fan Zhang Xin-Yue Lin Jian Chen Shi-Qiao Peng Zhong-Yan Shan Wei-Ping Teng Xiao-Hui Yu Department of endocrinology and Metabolism Institute of EndocrinologyLiaoning Provincial Key Laboratory of Endocrine DiseasesThe First Affiliated Hospital of China Medical University

Pretibial myxedema(PTM), an uncommon manifestation of Graves' disease(GD), is a local autoimmune reaction in the cutaneous tissue. The treatment of PTM is a clinical challenge. We herein report on a patient with PTM who achieved complete remission by multipoint subcutaneous injections of a long-acting glucocorticoid and topical glucocorticoid ointment application for a self-controlled study. A 53-year-old male presented with a history of GD for 3.5 years and a history of PTM for 1.5 years. Physical examination revealed slight exophthalmos, a diffusely enlarged thyroid gland, and PTM of both lower extremities. One milliliter of triamcinolone acetonide(40 mg) was mixed well with 9 mL of 2% lidocaine in a 10 mL syringe. Multipoint intralesional injections into the skin lesions of the right lower extremity were conducted with 0.5 mL of the premixed solution. A halometasone ointment was used once daily for PTM of the left lower extremity until the PTM had remitted completely. The patient's PTM achieved complete remission in both legs afteran approximately 5-mo period of therpy that included triamcinolone injections once a week for 8 wk and then once a month for 2 mo for the right lower extremity and halometasone ointment application once daily for8 wk and then once 3-5 d for 2 mo for the left lower extremity. The total dosage of triamcinolone acetonide for the right leg was 200 mg. Our experience with this patient suggests that multipoint subcutaneous injections of a long-acting glucocorticoid and topical glucocorticoid ointment application are safe, effective,and convenient treatments. However, the topical application of a glucocorticoid ointment is a more convenient treatment for patients with PTM.

关键词：粘液水肿皮肤组织临床分析治疗方法

Analysis of Cardiovascular Risk Factors in Newly Defined Stage 1 Hypertension among Chinese on the Basis of the 2017 ACC/AHA Hypertension Guidelines

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Biomedical and Environmental Sciences 2020年第1期33卷 48-52页

作者： LIANG Kai WANG Chuan YAN Fei YANG Jun Peng TIAN Meng WANG Ling Shu HOU Xin Guo CHEN Li Department of endocrinology Qilu Hospital of Shandong UniversityInstitute of Endocrinology and Metabolism DiseaseShandong UniversityKey Laboratory of Endocrinology and Metabolism DiseaseShandong Province Medicine&HealthJinan 250012ShandongChina

In 2017,American College of Cardiology(ACC)/American Heart Association(AHA)et al.jointly released the latest guidelines for adult hypertension,exactly including prevention,diagnosis,assess and treatment,in which blood pressure levels greater than 130/80 mm Hg were defined as hypertension[1].Based on these modified guidelines,the morbidity of hypertension in US increased from 32%to 46%.

关键词： CKD Analysis Cardiovascular Risk Factors Newly Defined Stage 1 Hypertension Chinese the Basis the 2017 ACC/AHA Hypertension Guidelines AHA ACC

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

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Asian Journal of Andrology 2021年第1期23卷 69-73页

作者： Bing-Qing Yu Zhao-Xiang Liu Yin-Jie Gao Xi Wang Jiang-Feng Mao Min Nie Xue-Yan Wu NHC Key Laboratory of Endocrinology Department of EndocrinologyPeking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China

46,XY disorders of sex development(DSD)is characterized by incomplete masculinization genitalia,with gonadal dysplasia and with/without the presence of Mullerian structures.At least 30 genes related to 46,XY DSD have been found.However,the clinical phenotypes of patients with different gene mutations overlap,and accurate diagnosis relies on gene sequencing technology.Therefore,this study aims to determine the prevalence of pathogenic mutations in a Chinese cohort with 46,XY DSD by the targeted nextgeneration sequencing(NGS)technology.Eighty-seven 46,XY DSD patients were enrolled from the Peking Union Medical College Hospital(Beijing,China).A total of fifty-four rare variants were identified in 60 patients with 46,XY DSD.The incidence of these rare variants was approximately 69.0%(60/87).Twenty-five novel variants and 29 reported variants were identified.Based on the American College of Medical Genetics and Genomics(ACMG)guidelines,thirty-three variants were classified as pathogenic or likely pathogenic variants and 21 variants were assessed as variants of uncertain significance.The overall diagnostic rate was about 42.5%based on the pathogenic and likely pathogenic variants.Androgen receptor{AR),steroid 5-alpha-reductase 2(SRD5A2)and nuclear receptor subfamily 5 Group A member 1(NR5A1)gene variants were identified in 21,13 and 13 patients,respectively.The incidence of these three gene variants was about 78.3%(47/60)in patients with rare variants.It is concluded that targeted NGS is an effective method to detect pathogenic mutations in 46,XY DSD patients and AR,SRD5A2,and NR5A1 genes were the most common pathogenic genes in our cohort.

关键词： 46,XY disorders of sex development mutations targeted next-generation sequencing

Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

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Bone Research 2016年第1期4卷 48-54页

作者： Qianqian Pang Xuan Qi Yan Jiang Ou Wang Mei Li Xiaoping Xing Jin Dong Weibo Xia Department of endocrinology Key Laboratory of EndocrinologyThe Ministry of HealthPeking Union Medical College HospitalChinese Academy of Medical Sciences Department of endocrinology The First Affiliated Hospital of Shanxi Medical University

Hereditary vitamin D-resistant rickets （HVDRR） is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor （VDR）, which lead to complete or partial target organ resistance to the action of 1,25- dihydroxy vitamin D~ A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene was found to be responsible for the patient＇s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

关键词： VDR Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

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Bone Research 2017年第3期5卷 242-249页

作者： Bo Wu Ou Wang Yan Jiang Mei Li Xiaoping Xing Weibo Xia Department of endocrinology Key Laboratory of Endocrinology Ministry of Health Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences

Familial hypocalciuric hypercalcemia （FHH） is caused by inactivating mutations in the calcium-sensing receptor （CaSR） gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographicaUy. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone （PTH）, 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient＇s CaSR gene revealed a new missense mutation （c.2279T 〉 A） in exon 7, leading to the damaging amino change （p.I760N） in the mature CaSR protein, confirming the diagnosis of ~H. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated ~H levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that CaSR mutations may have a partial role in the pathogenesis of skeletal deformities.

关键词： Ca Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient PTH BMD

Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C＞T mutation in CLCN7

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Bone Research 2016年第4期4卷 232-240页

作者： Xiang Chen Kun Zhang Janet Hock Chunyu Wang Xijie Yu laboratory of endocrinology and Metabolism Department of Endocrinology State Key Laboratory of Biotherapy West China Hospital Sichuan University Chengdu China The Polis Center Indiana University-Purdue University Indianapolis Indianapolis IN USA

Type II autosomal dominant osteopetrosis(ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7(CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoclast function remains largely unknown. This study was designed to investigate gene mutations and osteoclast function in a case that was clinically diagnosed as ADO2. Genomic DNA was extracted from blood samples of this patient, and the 25 exons of CLCN7 were amplified. Peripheral blood from the ADO2 subject and a healthy age- and sex-matched control was used to evaluate osteoclastogenesis, osteoclast morphology, and bone resorption. Analysis of DNA from the patient showed a germline heterozygous missense mutation,c.1856C>T(p.P619L), in exon 20 of CLCN7. A similar homozygous mutation at this site was previously reported in a patient with autosomal recessive osteopetrosis. When cultured, the peripheral blood mononuclear cells(PBMCs) from the ADO2 patient spontaneously differentiated into mature osteoclasts in vitro. The ADO2 patient’s PBMCs formed enhanced, but heterogeneous, osteoclasts in both the presence and absence of macrophage-colony stimulating factor, and nuclear factor-?B ligand. Bone resorption was reduced in the ADO2 patient’s osteoclasts, which exhibited aberrant morphology and abnormal distribution of integrin avβ3. Gene analysis found increased c-fos expression and reduced Rho A and integrin beta 3expression in ADO2 cells. In conclusion, our data suggest that enhanced, heterogeneous osteoclast induction may be an intrinsic characteristic of ADO2.

关键词： ADO T mutation in CLCN7 Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C case type II