Identification of Diagnostic Variants in and Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.

This study aims to conduct a comprehensive clinical and genetic investigation on a large family with members having various phenotypes, including acromesomelic dysplasia, type Maroteaux (AMDM), idiopathic short stature (ISS), Crouzon syndrome (CS). Prenatal diagnosis was performed on the high-risk fetus. We performed the whole-exome sequencing on three members with AMDM, ISS, or CS.

Acute liver failure with thrombotic microangiopathy due to sodium valproate toxicity: A case report.

Background: Sodium valproate is widely used in the treatment of epilepsy in clinical practice. Most adverse reactions to sodium valproate are mild and reversible, while serious idiosyncratic side effects are becoming apparent, particularly hepatotoxicity. Herein, we report a case of fatal acute liver failure (ALF) with thrombotic microangiopathy (TMA) caused by treatment with sodium valproate in a patient following surgery for meningioma.

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis.

Background: In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conventional cytogenetic and specific staining methods still play an important role in the work-up of chromosome anomaly. This study investigated the application of C-banding and AgNOR-staining techniques in prenatal diagnosis of chromosomal heteromorphisms and some structure abnormalities.

Tenofovir and telbivudine combination therapy rapidly decreases viral loads in immune-tolerant chronic hepatitis B patients awaiting assisted reproduction: an open-label, randomized, controlled study.

Background: Immune-tolerant chronic hepatitis B (CHB) patients awaiting assisted reproduction (AR) are required to initiate antiviral therapy because of laboratory safety concerns. The antiviral therapy in this group has not been well assessed. We sought to explore the efficacy and safety of the combination therapy (COM) of tenofovir (TDF) and telbivudine (LdT).

[Factors influencing tree radial growth of three common species in broad-leaved Korean pine mixed forests in Changbai Mountains, China].

To understand the factors influencing tree radial growth, we analyzed the seasonal dynamics of tree growth of 3 common species (Pinus koraiensis, Tilia amurensis, Quercus mongolica), compared interspecific growth rates and explored the effects of size, neighborhood competition, soil and topography based on five years dendrometer bands monitoring data of the 3 common species in a broad-leaved Korean pine (P. koraiensis) mixed forest plot in Changbai Mountain, Northeast China. The results showed that the growth dynamics of 3 species were consistent.

High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing.

Objective: Chromosome aberrations are generally considered as one of the most substantial causative factors contributing to spontaneous miscarriages. Cytogenetic analyses like G-banded karyotype and chromosomal microarray analyses are often performed to further investigate the chromosome status of a miscarried fetus.

Study Design: Here, we describe a novel method, AnnoCNV, to detect DNA copy number variations (CNVs) using low coverage whole genome sequencing (WGS).

Complete mitochondrial genome sequence and mutations of the hepatocellular carcinoma model inbred Sprague-Dawley strain.

In the present work we undertook the complete mitochondrial genome sequencing of an important hepatocellular carcinoma model inbred Sprague-Dawley strain for the first time. The total length of the mitogenome was 16,308 bp. It harbored 13 protein-coding genes, two ribosomal RNA genes, 22 transfer RNA genes and one non-coding control region (D-loop region).

[Cardioprotective mechanism of calreticulin up-regulation induced by hypoxic postconditioning.].

Calreticulin (CRT) is an essential Ca(2+)-binding chaperone existing in endoplasmic reticulum (ER) or sarcoplasmic reticulum (SR), and is involved in intracellular Ca(2+) homeostasis and protein folding. Ischemic postconditioning (I-postC), a newly discovered endogenous protective phenomenon, induces CRT up-regulation. The present study aimed to investigate the cardioprotective mechanism of CRT up-regulation induced by hypoxic postconditioning (H-postC).

[Perlecan participates in the protection of ischemic myocardium induced by basic fibroblast growth factor: experiment with rats].

Objective: To investigate if perlecan (PN) is involved in the myocardial protection of basic fibroblast growth factor (bFGF) in acute myocardial infarction.

Methods: Twenty-four Wistar rats were randomized into 3 groups: myocardial infarction group (MI group, n = 8, undergoing ligation of the descending anterior branch of the left coronary artery), bFGF + MI group (n = 10, injected with bFGF into the border myocardium between the infracted and non- infracted areas immediately after the ligation of the descending anterior branch), and sham operation group (n = 6, undergoing sham operation and injection of normal saline). 24 h, 14 days, and 28 days after the operation the hemodynamic parameters, infarct size, and microvessel density (MVD) were observed.

ARC contributes to the inhibitory effect of preconditioning on cardiomyocyte apoptosis.

Unlabelled: Inhibition of cardiomyocyte apoptosis plays a key role in preconditioning-triggered cardioprotection. However, the molecular mechanism(s) by which preconditioning inhibits apoptosis is not fully understood. Apoptosis repressor with caspase recruitment domain (ARC) possesses the ability to block hypoxia-induced cardiomyocyte apoptosis.

Down-regulation of perlecan expression contributes to the inhibition of rat cardiac microvascular endothelial cell proliferation induced by hypoxia.

Exposure of endothelial cells (ECs) to hypoxia leads to a decrease in EC proliferation. However, the mechanism by which hypoxia inhibits EC proliferation is unclear. Perlecan has been reported to play an important role in regulating EC proliferation.

[Hypoxic preconditioning induces endoplasmic reticulum stress-related cardioprotection mediated by p38 mitogen-activated protein kinase].

Calreticulin (CRT), an important Ca(2+)-binding molecular chaperone in the endoplasmic reticulum (ER), and caspase-12, a pivotal molecule mediating ER-initiated apoptosis, are involved in the ER stress (ERS). Using primary cultured neonatal cardiomyocytes, CRT and caspase-12 expression and activation during hypoxic preconditioning (HPC) and hypoxia/reoxygenation (H/R) were studied to explore the role of ERS in cardioprotection by HPC. And by using SB203580 and SP600125 [the specific inhibitors of p38 mitogen-activated protein kinase (MAPK) and c-Jun N-terminal kinase (JNK)] separately, the role of p38 MAPK in HPC-induced ERS was also detected.

[Role of hypoxia-inducible factor-1alpha in the prevention of cardiomyocyte injury induced by hypoxic preconditioning].

In order to understand the intracellular mechanism of preconditioning, we investigated the relationship among activities of extracellular signal-regulated protein kinases (ERKs), the expression of hypoxia-inducible factor -1alpha (HIF-1alpha) and the effect of hypoxic preconditioning (HPC) on cell injury induced by hypoxia-reoxygenation in cultured neonatal rat cardiomyocytes 24 h after brief hypoxia. Cultured cardiomyocytes of neonatal Sprague-Dawley rats were divided into four groups: hypoxia/reoxygenation (H/R), hypoxia preconditioning (HPC), hypoxia preconditioning + mitogen-activated protein kinase (MAPK) inhibitor PD98059 (HPC+PD98059), and control (C). We measured the survival rate and apoptosis rate of cardiomyocytes at 6 or 12 h after hypoxia/reoxygenation, activities of extracellular signal-regulated protein kinases (ERKs), and expression of hypoxia-inducible factor-1alpha (HIF-1alpha).

[Effects of human urotensin II on pia mater microcirculation in rats].

Aim: To investigate the effects of human urotensin II (hUII) on in vivo pia mater microcirculation in rats.

Methods: Adult SD rats were randomly assigned to the following groups: control, sodium chloride injection (NS), UII(10(-6) mol/L), noradrenaline (NA, 10(-6) mol/L), and UII (10(-6) mol/L) + NA (10(-6) mol/L) groups. For recording of microcirculation images in pia mater, skull windows were performed and mounted on the stage of an intravital microscope equipped with a TV camera.

Mono-, di-, and tetranuclear ruthenium(II) complexes containing 3-(pyridin-2-yl)-as-triazino[5,6-f]1,10-phenanthroline: synthesis, characterization, and electrochemical and photophysical properties.

Mono-, di-, and tetranuclear Ru(II) polypyridine complexes based on the bridging ligand pdtp, where pdtp is 3-(pyridin-2-yl)-as-triazino[5,6-f]1,10-phenanthroline, have been synthesized and characterizated. This asymmetric bridging ligand is composed of two nonequivalent coordinating sites: one involves the phenanthroline moiety, and the other one involves the pyridyltriazine moiety. Electrochemical data show that the first redox process in these complexes is pdtp based and the metal-metal interaction in di- and tetranuclear complexes is very weak.

[C3d molecular adjuvant increases the immunity of human chorionic gonadotropin beta DNA contraceptive vaccination and changes its immune response from Th1 to Th2].

Objective: To testify the effect of C3d molecular adjuvant on the immunogenicity of human chorionic gonadotropin beta (hCG beta) DNA vaccination as well as the mode of immune response.

Methods: BALB/c mice aged 6 weeks were immunized intramuscularly two times at an interval of 3 weeks with by the plasmid pcDNA3 (A1-3 groups), pcDNA3-hCG beta (B-3 groups), pcDNA3-hCG beta-C3d3 (C1-3 groups), or pCMV4-hCG beta-C3d3 (D1-3 groups), at dosage of 5 pmol, 10 pmol, and 20 pmol, respectively. Three weeks after the second vaccination the animals were killed, specimens of their peripheral blood were extracted to determine the anti-hCG beta antibody titer by indirect ELISA.