Factors Associated With Informational Support in Transitional Care for Older Adults With Chronic Diseases: A Cross-Sectional Study.

To evaluate the current situation and associated factors of informational support for older adults with chronic diseases in transitional care. Study was conducted in five hospitals of five different cities in Jiangsu Province, China. A random cluster sample of 800 older adults with chronic diseases responded to the informational support questionnaire of transitional care survey.

Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndrome.

Background: Bardet-Biedl syndrome (BBS) is a rare and genetically heterogeneous disease with a broad spectrum of clinical features, including but not limited to rod-cone dystrophy, postaxial polydactyly, central obesity, intellectual disability, hypogonadism, and renal dysfunction. Twenty-one BBS (Bardet-Biedl syndrome) genes have been identified to date. There is minimal mutation information on BBS in Chinese populations and the exact pathogenic mechanism of the null mutation of BBS9 remains unknown.

Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition.

Aims: We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations.

Effects of Trough Concentration and Solute Carrier Polymorphisms on Imatinib Efficacy in Chinese Patients with Chronic Myeloid Leukemia.

Purpose: We investigated the relationship between imatinib trough concentrations and genetic polymorphisms with efficacy of imatinib in Chinese patients with chronic myeloid leukemia (CML).

Methods: There were 171 eligible patients. Peripheral blood samples were collected from 171 eligible patients between 21 and 27 hours after the last imatinib administration.

Effects of aspirin and enoxaparin in a rat model of liver fibrosis.

Aim: To examine the effects of aspirin and enoxaparin on liver function, coagulation index and histopathology in a rat model of liver fibrosis. METHODS Forty-five male Sprague-Dawley rats were randomly divided into the control group (n = 5) and model group (n = 40). Thioacetamide (TAA) was used to induce liver fibrosis in the model group.

In vitro potential of Lycosin-I as an alternative antimicrobial drug for treatment of multidrug-resistant Acinetobacter baumannii infections.

The resistance of multidrug-resistant Acinetobacter baumannii (MDRAB) isolates to most traditional antibiotics results in huge challenges for infection therapy. We investigated the in vitro activities of both l- and d-lycosin-I against MDRAB. These two compounds displayed high antibacterial activities and rapid bactericidal effects against MDRAB.

[Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses].

Objective: To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene.

Methods: Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and DNA sequencing was performed for products with abnormal conformation.

Results: Among these HME patients, we found 2 disease-causing mutations: A313T (nonsense mutation) and 319 insGT (frameshift mutation).

[Sequence polymorphism of the promoter region of gene STK11 in patients with Peutz-Jeghers syndrome].

Objective: To explore the relationship between the sequence variation of the promoter region (-1543 approximately -1160) of STK11 gene and the risk of developing Peutz-Jeghers syndrome (PJS).

Methods: The sequences of the promoter region of 14 PJS patients (7 patients are inherited and the other 7 patients are sporadic) and 42 normal individuals were PCR amplified and then sequenced.

Results: A new single nucleotide polymorphism (SNP) G/T (-1275) in STK11 promoter region was identified.

[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].

Objective: To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree.

Methods: Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing.

[Infrequent X chromosome abnormality and X-linked syndromic deafness].

Objective: To make clear the relationship between the X chromosome abnormality and sydromic deafness through genetic analysis of a pedigree with X-linked syndromic deafness.

Methods: The chromosome number and structure of the family members were analyzed by the standard and high resolution banding with Giemsa, and fluorescent in situ hybridization. The allelic number of the DNA segment in X chromosome was studied with genetic markers.

[Interaction of connexin 26 with the C-terminal of neuroendocrine specific protein].

Objective: To screen and identify the interactive proteins with connexin 26 (Cx26) by the yeast two hybrid technique.

Methods: The whole coding region of Cx26 (GJB2) gene was amplified from normal human genomic DNA by polymerase chain reaction (PCR). The "bait" Cx26 was then subcloned into the vector pGBKT7 plasmid of the MatchMaker Gal4 Two-Hybrid System 3 as a target to screen its interactive proteins ("prey") from the human fetal brain eDNA library by the yeast two hybrid technique.

[Translational frameshift may be occur in p11, an interaction protein of Cx31, in yeast].

Connexin 31 is a member of connexin family. The carboxy-terminal cytosolic domain of connexin 31 contains several potential phosphorylation sites. In this work, a yeast two-hybrid protein interaction screen have been used to identify proteins that bind to the carboxy-terminus of connexin 31, and the p11 protein, an unique member of S100 protein family, and one of the two subunits of the annexin II tetramer was isolated.