[Analysis of a patient with X-linked mental retardation by next generation sequencing].

Objective: To explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.

Methods: Clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing.

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Background: Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Here we describe a four-generation family in Shandong province of China with at least three patients sharing severe intellectual disability and developmental delay resulting from a derivative chromosome 22 originating from a balanced translocation (3;22) involving chromosomes 3q28q29 and 22q13.3.

Physiological low-dose oestrogen promotes the development of experimental autoimmune thyroiditis through the up-regulation of Th1/Th17 responses.

Previous studies have reported a preponderance of autoimmune thyroiditis (AIT) in females, but the detailed mechanisms have not been elucidated. In this study, we explored the effects of oestrogen on experimental AIT (EAT) and its potential mechanisms in an ovariectomised mouse model through the supplementation of high (equivalent to the level during pregnancy) or low (equivalent to the level at the oestrus stage) doses of oestradiol (E2). We found that EAT incidence, the intrathyroidal inflammatory score, serum anti-thyroglobulin IgG2b levels, splenic mRNA expression of Th1- and Th17-specific transcription factors and typical cytokines and the proportion of IL-12-producing dendritic cells were significantly increased in EAT mice treated with low-dose E2 compared with those in the control group.

Ultrasound molecular imaging of acute cardiac transplantation rejection using nanobubbles targeted to T lymphocytes.

Clinical surveillance of acute heart transplantation rejection requires repeated invasive endomyocardial biopsies and noninvasive diagnostic techniques are desperately needed. It is acknowledged that T lymphocyte infiltration is the central process of acute rejection. We hypothesized that ultrasound molecular imaging with T lymphocyte-targeted nanobubbles could be used to detect acute rejection in heart transplantation.

Blood-brain barrier disruption induced by diagnostic ultrasound combined with microbubbles in mice.

Objective: To investigate the effects of the microbubble (MB) dose, mechanism index (MI) and sonication duration on blood-brain barrier (BBB) disruption induced by diagnostic ultrasound combined with MBs as well as to investigate the potential molecular mechanism.

Results: The extent of BBB disruption increased with MB dose, MI and sonication duration. A relatively larger extent of BBB disruption associated with minimal tissue damage was achieved by an appropriate MB dose and ultrasound exposure parameters with diagnostic ultrasound.

Quantitative Evaluation of Combretastatin A4 Phosphate Early Efficacy in a Tumor Model with Dynamic Contrast-Enhanced Ultrasound.

Combretastatin A4 phosphate (CA4P) is a vascular disrupting agent that rapidly shuts down blood supply to tumors. Early monitoring of tumor perfusion plays a crucial role in determining the optimal strategy to managing treatment and guiding future therapy. The aim of this study was to investigate the potential value of dynamic contrast-enhanced ultrasound (CEUS) in quantitative evaluation of tumor perfusion at an early stage in CA4P therapy.

Epidemiology of fungal infections in China.

With the increasing number of immunocompromised hosts, the epidemiological characteristics of fungal infections have undergone enormous changes worldwide, including in China. In this paper, we reviewed the existing data on mycosis across China to summarize available epidemiological profiles. We found that the general incidence of superficial fungal infections in China has been stable, but the incidence of tinea capitis has decreased and the transmission route has changed.

Five New Alkaloids from the Roots of Sophora flavescens.

Five new quinolizidine alkaloids, including three sparteine-type alkaloids (1 - 3) and two cytisine-type alkaloids (4 and 5), along with four known ones, were isolated from the roots of Sophora flavescens. Their structures were determined by extensive spectroscopic techniques including IR, UV, NMR, and HR-ESI-MS. All the compounds were evaluated for their antibacterial activities against Staphylococcus aureus and Escherichia coli.

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.

Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism and caused by a defect in the thiamine-dependent enzyme branched chain α-ketoacid dehydrogenase (BCKD) with subsequent accumulation of BCAAs and corresponding branched-chain keto acids (BCKAs) metabolites. Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause MSUD. Furthermore, more than 265 mutations have been identified as the cause across different populations worldwide.

Establishment of an efficient plant regeneration culture protocol and achievement of successful genetic transformation in Jatropha curcas L.

An efficient and reproducible protocol is described for shoot-bud regeneration and Agrobacterium tumefaciens-mediated genetic transformation of J. curcas. Treating the explants with high concentrations (5-120 mg/L) of TDZ for short durations (5-80 min) before inoculation culture increased significantly the regeneration frequency and improved the quality of the regenerated buds.

Comparison of the effect of high versus low mean arterial pressure levels on clinical outcomes and complications in elderly patients during non-cardiothoracic surgery under general anesthesia: study protocol for a randomized controlled trial.

Background: Intraoperative blood pressure (BP) is a concern in daily clinic anesthesia and contributes to the differences in clinical outcome. We conducted a randomized controlled trial (RCT) to compare the effect of high vs. low mean arterial pressure (MAP) levels on clinical outcomes and complications in elderly patients under general anesthesia (GA).

LINC00461, a long non-coding RNA, is important for the proliferation and migration of glioma cells.

An increasing number of reports have revealed that long non-coding RNAs are important players in tumorigenesis. Here we showed that long non-coding RNA LINC00461 is highly expressed in glioma tissues compared to non-neoplastic brain tissues. The knockdown of LINC00461 suppressed cyclinD1/A/E expression which led to G0/G1 cell cycle arrest and inhibited cell proliferation in glioma cells.

Effect of SOX2 on odontoblast differentiation of dental pulp stem cells.

The present study aimed to investigate the effect of SOX2 on odontoblast differentiation of dental pulp stem cells (DPSCs), and to examine the potential application of DPSCs on dental restoration. SRY‑box 2 (SOX2) overexpression in human DPSCs (DPSCs‑SOX2) was established by retroviral infection. The empty vector‑infected DPSCs were regarded as a control group (DPSCs‑vector group).

Spin-reorientation magnetic transitions in Mn-doped SmFeO.

Spin reorientation is a magnetic phase transition in which rotation of the magnetization vector with respect to the crystallographic axes occurs upon a change in the temperature or magnetic field. For example, SmFeO shows a magnetization rotation from the axis above 480 K to the axis below 450 K, known as the Γ → Γ transition. This work reports the successful synthesis of the new single-crystal perovskite SmFeMnO and finds interesting spin reorientations above and below room temperature.

Pseudoretinoblastoma of 9 enucleated eyes simulating retinoblastoma in 70 enucleated eyes.

Objective: To describe pathological features and determine the types and frequency of pseudoretinoblastoma simulating retinoblastoma in 70 enucleated eyes.

Materials And Methods: Retrospective histopathologic analysis of consecutively enucleated eyes for presumed intraocular retinoblastoma during the past 11 years in the Second People's Hospital of Yunnan Province in China.

Results: 9 of the 70 cases were found to be pseudoretinoblastoma on histological analysis.

Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15.

Echocardiographic diagnosis of rare pathological patterns of sinus of Valsalva aneurysm.

Objective: To evaluate the value and improve the diagnostic accuracy of echocardiography in the diagnosis of a sinus of Valsalva aneurysm (SVA) with rare pathological patterns.

Methods: Echocardiographic features and surgical findings from 270 Chinese patients with SVA treated in the last 18 years (1995-2013) at the Union Hospital were compared retrospectively; 22 of 270 cases had rare patterns.

Results: The patients with SVA, a rare origin, a rare extending position, or a rare course accounted for 3.

Correlation between Prenatal Exposure to Polybrominated Diphenyl Ethers (PBDEs) and Infant Birth Outcomes: A Meta-Analysis and an Experimental Study.

Only a few epidemiological studies have focused on the correlation between prenatal exposure to polybrominated diphenyl ethers (PBDEs) and infant birth outcomes (IBO), and the results of these epidemiological studies are contradictory. The objective of this study was to assess the correlation between prenatal exposure to PBDEs (PEP) and IBO (i.e.

[Clinical and molecular cytogenetic analysis of a family with mental retardation caused by an unbalanced translocation involving chromosomes 3 and 22].

Objective: To explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family.

Methods: Routine karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) were used to detect chromosome abnormalities in the patient and his families.

Results: Chromosome analysis suggested that the proband and 7 affected individuals had an identical karyotype 46,XN,der(22)t(3;22)(q28;q13)pat, while his father and 5 other relatives carried a same karyotype of 46,XN,t(3;22)(q28;q13).

A Rhodium(III) Complex as an Inhibitor of Neural Precursor Cell Expressed, Developmentally Down-Regulated 8-Activating Enzyme with in Vivo Activity against Inflammatory Bowel Disease.

We report herein the identification of the rhodium(III) complex [Rh(phq)(MOPIP)] (1) as a potent and selective ATP-competitive neural precursor cell expressed, developmentally down-regulated 8 (NEDD8)-activating enzyme (NAE) inhibitor. Structure-activity relationship analysis indicated that the overall organometallic design of complex 1 was important for anti-inflammatory activity. Complex 1 showed promising anti-inflammatory activity in vivo for the potential treatment of inflammatory bowel disease.

Tuning the Weak Ferromagnetic States in Dysprosium Orthoferrite.

RFeO orthoferrites, where R is a rare-earth ion of the lanthanide series, are attracting attention mostly because of their promising fast spin dynamics. The magnetic properties of these materials seem to crucially depend on whether the magnetizations of the R and Fe ions' weak ferromagnetic (WFM) components are parallel or antiparallel to each other. Here, we report an extensive investigation of a high-quality DyFeO single crystal in which the induced Dy magnetization (F) has a natural tendency to be antiparallel to Fe sublattice magnetization (F) within a large temperature window.

Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction.

Contrast echocardiography with left ventricular opacification (LVO) improves the definition of endocardium in two-dimensional echocardiography (2DE). This study was aimed to determine whether LVO offered added diagnostic value in noncompaction of left ventricular myocardium (NCVM). A total of 85 patients (40 ± 20 years, 54 males) with suspected NCVM were subjected to transthoracic 2DE and LVO, and 40 healthy volunteers were examined with 2DE and assigned as control subjects.

Epidemic characteristics of two classic models and the dependence on the initial conditions.

The epidemic characteristics, including the epidemic final size, peak, and turning point, of two classical SIR models with disease-induced death are investigated when a small initial value of the infective population is released. The models have mass-action (i.e.