A rare homozygous variant of gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.

Background: Melanocortin-2 receptor (), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in are associated with family glucocorticoid deficiency 1 (FGD1).

Case Presentation: We first reported a Chinese family with two affected siblings with a homozygotic variant of c.

Fever of unknown origin (FUO) in children: a single-centre experience from Beijing, China.

Objective: To date, there is no standard diagnostic practice to identify the underlying disease-causing mechanism for paediatric patients suffering from chronic fever without any specific diagnosis, which is one of the leading causes of death in paediatric patients. Therefore, we aimed this retrospective study to analyse medical records of paediatric patients with fever of unknown origin (FUO) to provide a preliminary basis for improving the diagnostic categories and facilitate the treatment outcomes.

Design: A retrospective study.

Tritium diffusion in a LiTiO crystal terminated with the (001) surface from first-principles calculations.

The tritium release behavior of the Li2TiO3 crystal has become an important index to evaluate its comprehensive performance as a solid breeder material in nuclear fusion reactors. The tritium diffusion on the surface (surface diffusion) and diffusion from the inside to the surface (hopping diffusion) in Li2TiO3 crystals with a 1/3-Li(001) surface are systematically investigated by the first-principles method. Possible adsorption sites, diffusion pathways and energy barriers of surface diffusion and hopping diffusion have been calculated and analyzed, respectively.

Efficacy and Safety of Mechanical Thrombectomy for Acute Mild Ischemic Stroke with Large Vessel Occlusion.

BACKGROUND The suitability of mechanical thrombectomy (MT) for patients with acute mild ischemic stroke (AMIS) caused by large vessel occlusion (LVO) is controversial. This study evaluated MT in patients with AMIS and LVO. MATERIAL AND METHODS Forty-seven patients diagnosed as AMIS with LVO received MT or intravenous thrombolysis (IVT).

Population Pharmacokinetics and Dosing Optimization of Azithromycin in Children with Community-Acquired Pneumonia.

Azithromycin is extensively used in children with community-acquired pneumonia (CAP). Currently, the intravenous azithromycin is used off-label in children partly due to lacking of pharmacokinetic data. Our objective was to evaluate the population pharmacokinetics (PPK) and optimize dose strategy in order to improve treatment in this distinctive population.

Association of Dietary Pattern during Pregnancy and Gestational Diabetes Mellitus: A Prospective Cohort Study in Northern China.

Objective: To examine the association of maternal dietary patterns during pregnancy with gestational diabetes mellitus (GDM) in northern China.

Methods: The dietary intakes of pregnant women were recorded twice by 24-hour dietary recalls for three days prior to having been diagnosed with GDM, at 5-15 and 24-28 gestational weeks, respectively. GDM was diagnosed, and serum glycosylated hemoglobin (HbA1c) was measured at 24-28 weeks.

[Expression of interferon-λ1 in respiratory epithelial cells of children with RSV infection and its relationship with RSV load].

Objective: To investigate the expression of IFN-λ1 in respiratory epithelial cells of children with respiratory syncytial virus (RSV) infection and its relationship with RSV load.

Methods: The nasopharyngeal swabs were collected from the children who were hospitalized with respiratory tract infection from June 2015 to June 2016. A direct immunofluorescence assay was used to detect the antigens of seven common respiratory viruses (including RSV) in the nasopharyngeal swabs.

Effects of a novel photoactivated photosensitizer on MDR1 over-expressing human breast cancer cells.

Multidrug resistance (MDR) was the main reason of cancer chemotherapy failure. Photodynamic therapy (PDT) has been applied to the treatment of tumor and considered as a strategy for the overcoming of MDR phenomenon. Present study focused on a novel porphyrin-based photosensitizer DTP (meso-5-[p-diethylene triamine pentaacetic acid-aminophenyl]-10,15,20-triphenyl-porphyrin)-mediated photocytotoxicity on MDR1 highly expressing human breast cancer cell line MCF-7/ADR (adriamycin resistant) and the parental MCF-7 cell line.

[Detection of cytochrome P450 3A4 gene polymorphism guides for labor analgesia with sufentanil medication].

Objective: To investigate the relationship between single nucleotide polymorphisms (SNPs) of cytochrome P450 (CYP450) 3A4 rs2242480 and inter-individual differences of sufentanil consumption in accouchement sans douleur.

Methods: A total of 131 parturient women were collected. According to the distribution of genotypes and allele frequencies of rs2242480, the doses of sufentanil were individually designed.

Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.

Background: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients.

Methods: PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed.

Results: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation.

[An improved method for generating integration-free human induced pluripotent stem cells].

The genome instability and tumorigenicity of induced pluripotent stem cells (iPSC) hinder their great potentials for clinical application. Using episomal vectors to generate iPSC is the best way to solve safety issues at present. This method is simple and the exogenous gene was not integrated into the host genome.

Contradictory imaging and EEG results in resection surgery of bitemporal lobe epilepsy: A case report.

The present study describes the case of a 27-year-old, right-handed female with bilateral mesial temporal lobe epilepsy. Electroencephalogram (EEG) monitoring from implanted electrodes displayed two different and independent onsets on the two sides of the mesial temporal structures, which specifically included clinical generalized tonic clonic seizure (GTCS) discharges originating from the left mesial temporal lobe, as well as complex partial seizure (CPS) discharges arising from the right mesial region. However, fluid-attenuated inversion recovery magnetic resonance imaging (FLAIR MRI) showed a unilateral abnormality, as in right mesial temporal lobe sclerosis.

[Efficient reprogramming of human cord blood CD34(+) cells for formation of induced pluripotent stem cells with non-integrating plasmid system].

This study was to establish the episomal vector reprogramming method to reprogram iPSC from human cord blood (CB) CD34(+) cells. The non-integrating plasmids of pEB-C5 and pEB-Tg were transfected into short-term cultured CB CD34(+) cells by using the nucleofector, so as to demonstrate efficient reprogramming of CB CD34(+) cells. Within 14 days of one-time transfection by two plasmids together, up to 200 iPSC-like colonies per 2 million transfected CB CD34(+) cells were generated.

Investigation of membranous ventricular septal defect complicated with tricuspid regurgitation in ventricular septal defect occlusion.

This study aimed to explore the mechanism of membranous ventricular septal defect complicated with tricuspid regurgitation and the significance of ventricular septal defect occlusion by echocardiography. A total of 43 patients with membranous ventricular septal defect complicated with tricuspid regurgitation were observed by echocardiography and the changes in length, area and volume of tricuspid regurgitation prior to and following ventricular septal defect occlusion were measured. There were four different mechanisms of membranous ventricular septal defect complicated with tricuspid regurgitation.

Pulsed laser deposition of ITO/AZO transparent contact layers for GaN LED applications.

In this study, indium-tin oxide (ITO)/Al-doped zinc oxide (AZO) composite films were fabricated by pulsed laser deposition and used as transparent contact layers (TCLs) in GaN-based blue light emitting diodes (LEDs). The ITO/AZO TCLs were composed of the thin ITO (50 nm) films and AZO films with various thicknesses from 200 to 1000 nm. Conventional LED with ITO (200 nm) TCL prepared by E-beam evaporation was fabricated and characterized for comparison.

[Detection of Coxsackie B3 virus infection in newborn care unit using reverse transcriptase polymerase chain reaction method].

Objective: To explore the sensitivity of reverse transcriptase polymerase chain reaction (RT-PCR) method for detection of Coxsackie virus B3 (CoxB3) infection.

Methods: RT-PCR method was used to detect CoxB3 viral RNA in peripheral blood samples of 31 sick children and their mothers (62 cases) from a single hospital.

Results: Among the 62 samples taken from 31 sick children and their mothers, the serological test showed only one positive case in anti-Coxsackie virus IgM.

[High-risk factors and clinical pathological analysis in 21 cases of fatal pulmonary embolism].

Objective: To explore the clinical and pathological characteristics of fatal pulmonary thromboembolism, especially the contribution of acquired and genetic risk factors of fatal pulmonary thromboembolism, so as to provide some useful information for its clinical prevention and treatment.

Methods: The medical dispute autopsy cases performed at the Department of Pathology, School of Basic Medical Sciences, Peking University from January 1, 2002 to September 30, 2008 were retrospectively reviewed. FV ( factor V ) Leiden mutation and FII ( factor II) G20210A mutation were analyzed by using methods of PCR and restriction fragment length polymorphism (RFLP) in fatal pulmonary embolism cases and random selected control cases of adult autopsy.

[Clinical and biopsy-based myopathological features of 5 cases with centronuclear myopathy].

Objective: To analyze the clinical and pathological features of the centronuclear myopathy (CNM) in 5 Chinese patients and evaluate their diagnostic and differential diagnostic value.

Methods: A standard series of histochemical and enzymohistochemical investigations were performed on all muscle specimens of CNM cases obtained via biopsy. The clinical manifestations and myopathological features of 5 CNM patients were retrospectively analyzed.

[Clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles: study of 17 cases].

Objective: To clarify the clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles (DMRV).

Methods: The clinical data of 17 Chinese DMRV patients with the courses of disease of 1-21 years, 5 males and 12 females, aged 28.9 (19-41), were collected.

[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases].

Objective: To clarify the expression patterns of dysferlin in limb-girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), and to investigate the frequency and clinicopathologic features of dysferlinopathy.

Methods: The expressing patterns of dysferlin were analyzed by immunohistochemistry, with a set of antibodies against dystrophin, alpha-sarcoglycan and dysferlin, in the biopsied muscle specimens from 45 patients with LGMD or MM diagnosed on the basis of clinical manifestations and muscle pathological features. The specimens with abnormal dysferlin expression shown by IHC were further analyzed with Western blotting for a quantitative evaluation.

[Gene detection of severe acute respiratory syndrome-related coronavirus].

Objective: To develop a newly real-time RT-polymerase chain reaction assay for severe acute respiratory syndrome (SARS) related coronavirus in human whole blood.

Methods: A pair of primers and a probe (molecular beacon) had been designed that were specific for the recognition of a highly conservative region between 15 301 and 15 480 of the SARS-related coronavirus polymerase gene sequences obtained from GenBank (G130027616).

Results: In the real-time RT-PCR assay, the extent of SARS related coronavirus amplification was measured in terms of the increase in fluorescence during the amplification process.