Abstract:
Background:A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. Methods:We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty. Results:Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6∗ were found to be the most prevalent mutations. On the basis of the genotype of these patients, we divided them into different groups. There was no significant difference in hormone levels and external masculinization score (EMS) in patients with or without these prevalent mutations. Twelve common single-nucleotide polymorphisms (SNPs) near the p.Gln6∗ mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6∗ mutation (12 alleles). Conclusion:We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.
journal_name
Biomed Res Intjournal_title
BioMed research internationalauthors
Han B,Cheng T,Zhu H,Yu J,Zhu WJ,Song HD,Yao H,Qiao Jdoi
10.1155/2020/1789514subject
Has Abstractpub_date
2020-06-09 00:00:00pages
1789514eissn
2314-6133issn
2314-6141journal_volume
2020pub_type
杂志文章abstract::Chrysactinia mexicana A. Gray (Asteraceae) and Turnera diffusa Willd (Turneraceae) are employed in traditional medicine as aphrodisiacs; however, there is no scientific evidence supporting the prosexual properties of C. mexicana. The aim of this study was to determine whether an aqueous extract of C. mexicana (Cm) sti...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/2987917
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:The aim of this study is to investigate the effectiveness of preemptive thoracic epidural analgesia (TEA) comparing conventional postoperative epidural analgesia on thoracotomy. MATERIAL AND METHODS:Forty-four patients were randomized in to two groups (preemptive: Group P, control: Group C). Epidural cathet...
journal_title:BioMed research international
pub_type: 杂志文章,随机对照试验
doi:10.1155/2014/673682
更新日期:2014-01-01 00:00:00
abstract::Beta-1,3-glucanosyltransferase (Gas1p) plays important roles in cell wall biosynthesis and morphogenesis and has been implicated in DNA damage responses and cell cycle regulation in fungi. Yeast Gas1p has also been reported to participate in endoplasmic reticulum (ER) stress responses. However, the precise roles and m...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2019/1238581
更新日期:2019-06-02 00:00:00
abstract::In the present study aortic murine smooth muscle cell (SMC) antigen presentation capacity was evaluated using the Eα-GFP/Y-Ae system to visualize antigen uptake through a GFP tag and tracking of Eα peptide/MHCII presentation using the Y-Ae Ab. Stimulation with IFN-γ (100 ng/mL) for 72 h caused a significant (P < 0.01)...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/949845
更新日期:2014-01-01 00:00:00
abstract::Carbonic anhydrases (CAs) are enzymes that catalyse the reversible hydration of CO2 to bicarbonate. CA XII is considered a potential biomarker of tumor cells and a promising target for specific therapies. The aim of the current study was to develop new monoclonal antibodies (MAbs) against human recombinant CA XII and ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/309307
更新日期:2014-01-01 00:00:00
abstract::The aim of this study is to investigate the stress distributions of different restoration options for class II mesio-occluso-distal (MOD) cavities. A class II MOD cavity with proximal box gingival floor 1 mm below cementoenamel junction was designed in a mandibular first molar tooth model. 3D finite-element analysis (...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2020/7435054
更新日期:2020-12-15 00:00:00
abstract:Background:Waldenström macroglobulinemia (WM) is a rare, indolent B-cell lymphoma. Clinically, chromosome 6q deletion (6q del) including loss of the B lymphocyte-induced maturation protein 1 gene (BLIMP-1) is reported to be associated with poor prognosis. However, it remains unclear how the underlying biological mechan...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/6728128
更新日期:2018-10-04 00:00:00
abstract::Aim. In periodontology lasers have been suggested for the photodynamic therapy (PDT): such therapy can be defined as the inactivation of cells, microorganisms, or molecules induced by light and not by heat. The aim of this study was to evaluate results of PDT using a 980 nm diode laser (Wiser Doctor Smile, Lambda SPA,...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/1386158
更新日期:2016-01-01 00:00:00
abstract::The use of in vitro metabolism data to predict human clearance has become more significant in the current prediction of large scale drug clearance for all the drugs. The relevant information (in vitro metabolism data and in vivo human clearance values) of thirty-five drugs that satisfied the entry criteria of probe dr...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/857327
更新日期:2015-01-01 00:00:00
abstract::An FDA-regulated, prescription medical food (Fosteum; 27 mg natural genistein, 200 IU cholecalciferol, 20 mg citrated zinc bisglycinate (4 mg elemental zinc) per capsule) and an over-the-counter (OTC) supplement (Citracal Plus Bone Density Builder; 27 mg synthetic genistein, 600 mg elemental calcium (calcium citrate),...
journal_title:BioMed research international
pub_type: 杂志文章,随机对照试验
doi:10.1155/2013/273498
更新日期:2013-01-01 00:00:00
abstract::Acute nonspecific, or primary, mesenteric lymphadenitis is a self-limiting inflammatory condition affecting the mesenteric lymph nodes, whose presentation mimics appendicitis or intussusception. It typically occurs in children, adolescents, and young adults. White blood count and C-reactive protein are of limited usef...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2017/9784565
更新日期:2017-01-01 00:00:00
abstract::Hepatitis B virus (HBV) infection is the predominant risk factor for chronic hepatitis B (CHB). The association between HBV infection and human leukocyte antigen- (HLA-) DQ polymorphism (rs2856718 and rs7453920) has been demonstrated in other studies; however, the results were controversial or inconclusive. Therefore,...
journal_title:BioMed research international
pub_type: 杂志文章,meta分析
doi:10.1155/2017/9679843
更新日期:2017-01-01 00:00:00
abstract::Hepatitis B virus (HBV) is an important public health problem that poses a serious threat to human health. HBV reactivation generally occurs in overt or occult HBV infection patients who suffered DDAs, chemotherapy, or immunosuppressive therapy, especially when some solid tumors and leukemia patients are using hormone...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2018/2931402
更新日期:2018-12-26 00:00:00
abstract::Purpose. To compare the results of extracorporeal shock wave therapy (ESWT) for insertional Achilles tendinopathy (IAT) with or without Haglund's deformity. Methods. Between September 2014 and May 2015, all patients who underwent ESWT were retrospectively enrolled in this study. A total of 67 patients were available f...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/6315846
更新日期:2016-01-01 00:00:00
abstract::The purpose of the present study was to examine the convergent and divergent validity of the Biber Cognitive Estimation Test (BCET) in individuals with ABI undergoing postacute rehabilitation and to assess the measure's ability to account for unique variance in community integration following rehabilitation. Participa...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2017/2874819
更新日期:2017-01-01 00:00:00
abstract::Myocardial ischemia-reperfusion (I/R) injury is experienced by individuals suffering from cardiovascular diseases such as coronary heart diseases and subsequently undergoing reperfusion treatments in order to manage the conditions. The occlusion of blood flow to the tissue, termed ischemia, can be especially detriment...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2015/864946
更新日期:2015-01-01 00:00:00
abstract::Host jump can result in deadly pandemic events when avian influenza A viruses broaden their host specificity and become able to infect mammals, including humans. Haemagglutinin-the major capsid protein in influenza A viruses-is subjected to high rate mutations, of which several occur at its "head": the receptor-bindin...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/3870508
更新日期:2018-05-17 00:00:00
abstract::Synthetic lethality (SL) is a novel strategy for anticancer therapies, whereby mutations of two genes will kill a cell but mutation of a single gene will not. Therefore, a cancer-specific mutation combined with a drug-induced mutation, if they have SL interactions, will selectively kill cancer cells. While numerous SL...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/196034
更新日期:2014-01-01 00:00:00
abstract::This paper presents an ultrasound simulation model for pulsatile blood flow, modulated by the motion of a stenosed vessel wall. It aims at generating more realistic ultrasonic signals to provide an environment for evaluating ultrasound signal processing and imaging and a framework for investigating the behaviors of bl...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/8502873
更新日期:2016-01-01 00:00:00
abstract::Autophagy is a highly regulated-cell pathway for degrading long-lived proteins as well as for clearing cytoplasmic organelles. Autophagy is a key contributor to cellular homeostasis and metabolism. Warburg hypothesized that cancer growth is frequently associated with a deviation of a set of energy generation mechanism...
journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2014/926729
更新日期:2014-01-01 00:00:00
abstract::Waldenström macroglobulinemia (WM) is a malignant lymphoplasma-proliferative disorder with IgM monoclonal gammopathy. A recent whole-genome study identified MYD88 L265P as the key mutation in WM. We investigated MYD88 mutations in conjunction with cytogenetic study in 22 consecutive Korean WM patients. Conventional G-...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/363540
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:There is an unmet need for a specific cardiovascular risk (CV) algorithm for rheumatoid arthritis (RA) patients. Lipoprotein data are often not available in RA cohorts but could be obtained from frozen blood samples. The objective of this study was to estimate the storage effect on lipoproteins in long-term (...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/930925
更新日期:2014-01-01 00:00:00
abstract::The present study deals with the enzymatic synthesis of biodiesel by transesterification of Jatropha oil (Jatropha curcas L.) with ethanol in a solvent-free system. Seven commercial lipase preparations immobilized by covalent attachment on epoxy-polysiloxane-polyvinyl alcohol composite (epoxy-SiO2-PVA) were tested as ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/1404567
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:The purpose of this study was to describe the clinical and demographic characteristics of UC in Bahia, a Brazilian state, and to identify the variables associated with extensive colitis, steroid therapy, immunosuppression, and colectomy. METHODS:In this cross-sectional study UC patients were interviewed, ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/359130
更新日期:2015-01-01 00:00:00
abstract::It is well known that Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. Intellectual disability is the foremost and most debilitating trait, which caused loss of cognitive abilities and the development of early onset Alzheimer's d...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/214618
更新日期:2015-01-01 00:00:00
abstract::Angiogenesis plays a decisive role in the growth and spread of cancer and angiopoietin-2 (Ang2) is in the spotlight of studies for its unique role in modulating angiogenesis. The aim of this study was to introduce a computational simulation approach to screen aptamers with high binding ability for Ang2. We carried out...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/658712
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:The present study investigated which type of adenocarcinoma with BAC features was prone to be false-negative on 18F-FDG PET/CT. MATERIALS AND METHODS:A retrospective study was performed on 51 consecutive patients with localized adenocarcinoma with BAC features. CT and PET were assessed for lesion size, GGO per...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/243681
更新日期:2015-01-01 00:00:00
abstract::Bacterial nanocellulose (BNC) has demonstrated a tempting prospect for applications in substitute of small blood vessels. However, present technology is inefficient in production and BNC tubes have a layered structure that may bring danger after implanting. Double oxygen-permeable silicone tubes in different diameters...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/560365
更新日期:2015-01-01 00:00:00
abstract:Background:Health workers are one of the most important building blocks of the health system. High turnover rate contribute to the shortfalls and unbalanced distribution of health personnel in the health workforce. Turnover intention is the strongest predictor of actual turnover. Objective:To assess the magnitude of t...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2018/3165379
更新日期:2018-12-23 00:00:00
abstract::The most expedient unit of the human body is its cell. Encapsulated within the cell are many infinitesimal entities and molecules which are protected by a cell membrane. The proteins that are associated with this lipid based bilayer cell membrane are known as membrane proteins and are considered to play a significant ...
journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/8370132
更新日期:2016-01-01 00:00:00