Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel variants.

Short rib‑polydactyly syndrome type III (SRPS3) is a lethal perinatal skeletal disorder consisting of polydactyly and multi‑system organ abnormalities. To further assess the pathogenicity of two pairs of compound heterozygotes and to search for novel molecular etiology, X‑rays and hematoxylin and eosin staining were conducted in three cases: Two retrospective samples and a newly identified patient with SRPS3. In addition, next‑generation sequencing was used to evaluate a fetus with SRPS3.

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death.

Penalized logistic regression based on L1/2 penalty for high-dimensional DNA methylation data.

Background: DNA methylation is a molecular modification of DNA that is vital and occurs in gene expression. In cancer tissues, the 5'-C-phosphate-G-3'(CpG) rich regions are abnormally hypermethylated or hypomethylated. Therefore, it is useful to find out the diseased CpG sites by employing specific methods.

MicroRNA-144 Regulates Cardiomyocyte Proliferation and Apoptosis by Targeting TBX1 through the JAK2/STAT1 Pathway.

It is currently believed that the TBX1 gene is one of the core genes of congenital heart disease (CHD). However, there are few studies on the abnormal regulation of TBX1 gene expression. The purpose of this work was to investigate the role of miR-144 and TBX1 in cardiac development by studying the regulatory relationship and mechanism of miR-144 on TBX1/JAK2/STAT1 in cardiomyocytes.

Rare Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome.

Silver-Russell syndrome (SRS) is a rare, well-recognized disorder characterized by growth restriction, including intrauterine and postnatal growth. Most SRS cases are caused by hypomethylation of the paternal imprinting center 1 (IC1) in chromosome 11p15.5 and maternal uniparental disomy in chromosome 7 (UPD7).

Endoplasmic reticulum stress may be involved in insulin resistance and lipid metabolism disorders of the white adipose tissues induced by high-fat diet containing industrial trans-fatty acids.

Background: Consumption of industrially produced trans-fatty acids (iTFAs) can result in alteration to lipid profile and glucose metabolism. Moreover, a diet high in iTFAs could increase the risk of obesity, cardiovascular diseases (CVDs) and type 2 diabetes mellitus. Glucose and lipid metabolism are closely linked in white adipose tissue (WAT), yet the underlying mechanisms of the effect of iTFAs in WAT are poorly understood.

The L regularization network Cox model for analysis of genomic data.

Methods based on a L penalty have been utilized to solve the variable selection problem associated with the Cox proportional hazards model. One limitation of the existing methods for survival analysis is that these ignore the regulatory networks and pathways information. To merge prior pathway information into the analysis of genomic data, we proposed a network-based regularization method for the L penalty and applied it to high-dimensional survival analysis data.

Biomechanical evaluation of four different posterior screw and rod fixation techniques for the treatment of the odontoid fractures.

Problems that screw cannot be inserted may occur in screw-rod fixation techniques such as Harms technique. We compared the biomechanical stability imparted to the C-2 vertebrae by four designed posterior screw and rod fixation techniques for the management of odontoid fractures. A three-dimensional finite element model of the odontoid fracture was established by subtracting several unit structures from the normal model from a healthy male volunteer.

Hydrogen sulfide protects spinal cord and induces autophagy via miR-30c in a rat model of spinal cord ischemia-reperfusion injury.

Background: Hydrogen sulfide (H2S), a novel gaseous mediator, has been recognized as an important neuromodulator and neuroprotective agent in the nervous system. The present study was undertaken to study the effects of exogenous H2S on ischemia/reperfusion (I/R) injury of spinal cord and the underlying mechanisms.

Methods: The effects of exogenous H2S on I/R injury were examined by using assessment of hind motor function, spinal cord infarct zone by Triphenyltetrazolium chloride (TTC) staining.

Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis.

Background: The Cardiac α actin 1 gene (ACTC1) has been related to familial atrial septal defects. This study was set to explore a potential role of this gene in the formation of sporadic congenital heart disease (CHD).

Methods And Results: Assessment of cardiac tissue samples from 33 patients with sporadic CHD (gestational age (GA) 18 weeks-49 months) with real-time RT-PCR, Western blotting and immunohistochemistry has revealed a markedly decreased ACTC1 expression in the majority of samples (78.

[Interleukin-18 expression in peripheral blood mononuclear cells in children with steroid-resistant nephrotic syndrome].

Objective: To examine serum concentration of interleukin-18 (IL-18) and IL-18 mRNA expression in peripheral blood mononuclear cells (PBMCs) in children with primary nephrotic syndrome (PNS) and explore the possible role of IL-18 in steroid-resistant nephrotic syndrome (SRNS).

Methods: Sixty-six children with newly diagnosed PNS, including 39 cases of steroid sensitive nephrotic syndrome (SSNS) and 27 cases of SRNS, were enrolled. Forty healthy children were used as a normal control group.

[Response of water quality to agricultural cultivation in Liangwanghe River catchment of Fuxianhu Lake region].

Response of water quality to agricultural cultivation was investigated for the Liangwanghe River catchment of Fuxianhu Lake region in Yunnan Province of China. Two typical tillage lands-the rice-wheat rotation (R-W) and the tobacco-pea (T-P) rotation were selected and monitored. Groundwater quality and water quality of Liangwanghe River were monitored simultaneously, as well as the farmland cultivation situation at that time.

[Interleukin-13 expression before and after pulse treatment with methylprednisolone in children with steroid-responsive nephrotic syndrome].

Objective: To study serum concentration and mRNA expression of interleukin-13 (IL-13) in children with steroid-responsive nephrotic syndrome (SRNS) and the effect of methylprednisolone pulse therapy (MPT) on IL-13 expression.

Methods: Twenty-eight children with SRNS were enrolled in this study. Serum protein level of IL-13 was measured using ELISA and IL-13 mRNA expression in peripheral blood mononuclear cells (PBMC) was detected with RT-PCR before MPT, 2 and 5 days after MPT, and 2 weeks after disappearance of proteinuria following MPT.

Expression of tissue inhibitor of metalloproteinase-1 in progression muscular dystrophy.

Objective Tissue inhibitor of metalloproteinase-1 (TIMP-1) is a multifunctional protein that has thc capacity to modify cellular activities and to modulate matrix turnover. This paper revealed the contributive role of TIMP-1 in progressive muscular dystrophy (PMD). Methods We examined the expression and cellular localization of TIMP-1 protein using biopsied frozen muscle from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), congenital muscular dystrophy (CMD) by immunohistochemistry, double immunofluorescence and Western blot analysis.

[Expression of connective tissue growth factor in progressive muscular dystrophy].

Objective: Progressive muscular dystrophy (PMD) is characterized by muscle fiber necrosis, regeneration, and endomysial fibrosis. Although absence of dystrophin and subsarcolemmic protein has been known as the cause of muscle fiber degeneration, pathogenesis of interstitial fibrosis is still unknown. The aim of this study was to investigate the role of connective tissue growth factor (CTGF) in PMD and its relationship with muscular fibrosis.