Evaluation of groundwater quality and health risk assessment in Dawen River Basin, North China.

Groundwater is the principal water source of drinking and irrigation in the Dawen River Basin of Shandong Province. Thus, its investigations and evaluations are of significant importances. Based on collected groundwater samples, this study employed a combination of the entropy-weighted water quality index(EWQI), Nitrate Pollution Index(NPI) and the human health risk assessment(HHRA) model to evaluate groundwater quality and associated health risks.

Dual crosslinking of folic acid-modified pectin nanoparticles for enhanced oral insulin delivery.

Pectin-based drug delivery systems hold great potential for oral insulin delivery, since they possess excellent gelling property, good mucoadhesion and high stability in the gastrointestinal (GI) tract. However, lack of enterocyte targeting ability and premature drug release in the upper GI tract of the susceptible ionic-crosslinked pectin matrices are two major problems to be solved. To address these issues, we developed folic acid (FA)-modified pectin nanoparticles (INS/DFAN) as insulin delivery vehicles by a dual-crosslinking method using calcium ions and adipic dihydrazide (ADH) as crosslinkers.

Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.

Background: Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X-linked adrenoleukodystrophy (X-ALD). This study focused on the characteristics of ABCD1 variants in Chinese X-ALD families and elucidated the value of genetic approaches for X-ALD.

Methods: 68 male probands diagnosed as X-ALD were screened for ABCD1 variants by the Sanger sequencing of polymerase chain reaction (PCR) products and multiplex ligation-dependent probe amplification (MLPA) combined with long-range PCR.

Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2 Variants.

Objective: To determine changes in mitochondrial DNA (mtDNA) copy number in peripheral blood in Rett syndrome caused by methyl-CpG-binding protein-2 (MECP2) variants and explore the mechanism of mitochondrial dysfunction in Rett syndrome.

Study Design: Female patients who were diagnosed with Rett syndrome and had an MECP2 variant (n = 142) were recruited in this study, along with the same number of age- and sex-matched healthy controls. MtDNA copy number was quantified by real-time quantitative polymerase chain reaction with TaqMan probes.

Rab27a deletion impairs the therapeutic potential of endothelial progenitor cells for myocardial infarction.

Endothelial progenitor cell (EPC) transplantation has shown advantages in the treatment of myocardial infarction (MI) in animal models and clinical trials through mechanisms of direct intercellular contacts, autocrine, and paracrine. However, the effects of EPC transplantation for MI treatment remain controversial and the underlying mechanisms have not been fully elucidated. Here, we explored the role of Rab27a in the therapeutic potential of EPC transplantation in MI.

[Analysis of the relationship between mitochondrial DNA deletion and clinical complexity of mitochondrial disease].

Objective: To analyze the relationship between proportion of mitochondrial DNA 4 977 bp deletion (ΔmtDNA(4977)) or copy number in blood and the clinical complexity to find the pathogenesis of mitochondrial disease.

Methods: A total of 160 patients with mitochondrial disease and 101 healthy controls of Peking University First Hospital from December 2003 to December 2013 were collected in this study. Their peripheral blood showed no hot-point mutation which detected by polymerase chain reaction-restriction fragment length polymorphism.

[G14453A mutation in mitochondrial myopathy encephalomyopathy with lactic acidosis and stroke-like episodes].

Objective: To analyz mitochondrial DNA mutation in one case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Methods: The patient, a 10-years-old boy,clinically diagnosed as MELAS. The clinical information was collected, and the normal mitochondrial mutations (such as A3243G, A8344G, T8993G/C, G13513A etc) were excluded.

Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity.

Large deletions in mitochondrial DNA (mtDNA) may be involved in the pathogenesis of mitochondrial disease. In this study, we investigated the relationship between a 4,977-bp deletion in the mitochondrial genome (ΔmtDNA(4977)) and the severity of clinical symptoms in patients with mitochondrial disease lacking known point mutations. A total of 160 patients with mitochondrial disease and 101 healthy controls were recruited for this study.

[Multiplex ligation-dependent probe amplification for detecting submicroscopic chromosomal abnormalities in Chinese children with global developmental delay or intellectual disability].

Objective: To evaluate the feasibility of screening large cohorts of patients with developmental delay or intellectual disability (DD/ID) with multiplex ligation-dependent probe amplification (MLPA).

Methods: The peripheral blood samples were collected and DNA extracted from 276 patients with DD/ID from June 2012 to December 2013. MLPA was employed, including two distinct kits SALSA P036 and P070 for sub-telomere screening and SALSA P245 for 22 common microdeletion and microduplication syndromes.

Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases.

The genotype-phenotype relationship in diseases with mtDNA point mutations is still elusive. The maintenance of wild-type mtDNA copy number is essential to the normal mitochondrial oxidative function. This study examined the relationship between mtDNA copy number in blood and urine and disease severity of the patients harboring A3243G mutation.

[Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies].

Objective: To investigate the spectrum of mitochondrial DNA (deoxyribonucleic acid) 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in Chinese patients with mitochondrial encephalomyopathies.

Methods: Peripheral blood samples were collected from 500 mitochondrial encephalomyopathies patients clinically diagnosed as mitochondrial encephalomyopathy lactic acidosis & stroke-like episodes (MELAS), myoclonus epilepsy & ragged-red fibers (MERRF) or Leigh's syndrome from October 2005 to October 2009. The methods of PCR- polymerase chain reaction-restriction fragment length polymorphism (RFLP) and PCR-sequencing were performed to identify the mutations.

[Analysis of clinical phenotype in 42 nuclear pedigrees carrying mitochondrial DNA A3243G mutation].

Objective: A3243G mutation in mitochondrial DNA is the most common pathogenic point mutation causing a variety of phenotypes. The clinical phenotype and the relationship between the clinical phenotype and the ratio of A3243G mutation were studied in the members from nuclear families carrying A3243G mutation.

Methods: A total of 42 families carrying A3243G mutation were recruited and their clinical symptoms, laboratory results and the ratio of A3243G analyzed.