Case Report

Related GMR Articles

09/10/2015
Genetic counseling; Klinefelter syndrome; Multidisciplinary approach; Quality of life

Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm ... more

M. Zhang; H.T. Fan; H.S. Zheng; Q.S. Zhang; S.Q. Feng; R.W. Li
11/26/2015
AZF microdeletions; Klinefelter syndrome; Male infertility

We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and ... more

L.X. Li; H.Y. Dai; X.P. Ding; Y.P. Zhang; X.H. Zhang; H.Y. Ren; Z.Y. Chen
09/27/2017
Down syndrome; Heart Defects, Congenital; Humans; Infant; Karyotype; Klinefelter syndrome; male

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
10/17/2016
Cardiomyocyte-like cells; Cell differentiation; Mesenchymal stem cells; Rehmannia glutinosa oligosaccharide

The aim of this study was to observe the effect of Rehmannia glutinosa oligosaccharide (RGO) on differentiation of bone marrow mesenchymal stem cells (MSCs) into cardiomyocyte-like cells . Rat MSCs were isolated, treated, and grouped as follows: RGO treatment group, 5-azacytidine (5-aza) treatment group, RGO + 5-aza treatment group, and control group. ... more

X.H. Wang; H.W. Du; X.H. Guo; S.W. Wang; R.B. Zhou; Y. Li; Z.B. Li; Y.S. Zhao; Q.L. Zhu
10/17/2016
-1082A/G; -592A/C; CAD; IL-10; Polymorphism

Here, we conducted a case-control study to investigate the association between IL-10 gene polymorphisms and development of CAD in a Chinese population. A total of 220 patients with CAD and 236 control subjects who visited the Zhengzhou People’s Hospital between May 2012 and June 2014 were selected for this study. The IL-10-1082A/G and -592A/C ... more

L. Wu; M.H. Zhao; G.Y. Geng; L. Mao; H.J. Liu
10/17/2016
Clinically negative node; Meta-analysis; Radical neck dissection; Radiotherapy; Supraglottic carcinoma

The purpose of this study was to evaluate the treatment of clinically negative cervical lymph nodes in supraglottic carcinoma by a meta-analysis. The search words were “supraglottic carcinoma”, “cervical lymph nodes negative/cN0”, “radical neck dissection”, and “radiotherapy”. The databases included the Chinese biomedical literature database, Medline, Cochrane ... more

Y.H. Liu; Z.W. Du
10/17/2016
Cancer cell proliferation; Lung cancer; miR-129b; Non-small cell lung carcinoma

Lung cancer is one of the most prevalent malignant tumors, and is one of the primary causes of cancer-associated deaths. In 2002, an estimated 1.18 million lung cancer-associated deaths were recorded, accounting for 18% of cancer-related deaths and 2% of total mortality. Despite the great progress that has been made in lung cancer therapies, the mechanisms ... more

L. Zheng; Y.X. Qi; S. Liu; M.L. Shi; W.P. Yang
10/17/2016
IL-8; Polymorphism; Primary gouty arthritis; rs2227306; rs4073

In this study, we investigated the role of two single nucleotide polymorphisms in the promoter region of the interleukin-8 gene (IL-8; rs4073 and rs2227306) in the susceptibility to primary gouty arthritis in a Chinese population. Three hundred and twelve patients with primary gouty arthritis and 340 healthy controls were recruited from the Yan’an ... more

Y.X. Cui; H. Zhao; H.Q. Guo
10/17/2016
Atrial fibrillation; Connexin 40; Gene polymorphism

We aimed to elucidate the association between connexin 40 (Cx40) genetic polymorphisms and atrial fibrillation (AF) in a Chinese population in Xinjiang comprising Uyghur and Han individuals. We enrolled 275 Uyghur and 305 age- and gender-matched Han subjects, and used polymerase chain reaction to detect single nucleotide polymorphisms (SNPs; -44G/A and +71A/G) in ... more

J. Hailati; Y.C. Yang; L. Zhang; P.Y. He; M. Baikeyi; W. Muhuyati; Z.Q. Liu
10/17/2016
Admixed population; African ancestry; Amerindian ancestry; Ancestry informative markers; European ancestry; Single nucleotide polymorphism

Some studies of polymorphisms in prostate cancer (PCa) analyze individuals in a uniform manner, regardless of genetic ancestry. However, PCa aggressiveness differs between subjects of African descent and those of European extraction. Thus, genetic ancestry analysis may be used to detect population stratification in case-control association studies. We genotyped 11 ... more

J.S. Oliveira; R.S. Ferreira; L.M. Santos; L.J. Marin; R.X. Corrêa; M.R. Luizon; A.L. Simões; S.R. Gadelha; S.M.B. Sousa

Pages