Association of MDR1 gene polymorphisms with refractory epilepsy in children / 中华医学遗传学杂志

OBJECTIVE@#To assess the association of single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) with refractory epilepsy in children.@*METHODS@#Peripheral blood samples were collected from 200 children with epilepsy and 100 healthy controls. Genomic DNA was extracted and subjected to PCR amplification, agarose gel electrophoresis and target site sequencing. Genotypes of rs1922242, rs2235048, rs10808072, rs868755 and rs1202184 loci of the MDR1 gene were analyzed.@*RESULTS@#No significant difference was found in genotypic distribution and allelic frequencies of the rs1922242, rs2235048, rs10808072 and rs868755 loci between the drug-resistant and drug-sensitive groups. For the rs1202184 locus, a significant difference in genotypic distribution was found (P=0.008). No significant difference was found in the frequencies of various haplotypes between the two groups.@*CONCLUSION@#Genotypes of the rs1202184 locus of the MDR1 gene are associated with refractory epilepsy in children, for which the AA genotype plays a dominant role.

Association of MDR1 gene polymorphisms with refractory epilepsy in children / 中华医学遗传学杂志

Objective@#To assess the association of single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) with refractory epilepsy in children.@*Methods@#Peripheral blood samples were collected from 200 children with epilepsy and 100 healthy controls. Genomic DNA was extracted and subjected to PCR amplification, agarose gel electrophoresis and target site sequencing. Genotypes of rs1922242, rs2235048, rs10808072, rs868755 and rs1202184 loci of the MDR1 gene were analyzed.@*Results@#No significant difference was found in genotypic distribution and allelic frequencies of the rs1922242, rs2235048, rs10808072 and rs868755 loci between the drug-resistant and drug-sensitive groups. For the rs1202184 locus, a significant difference in genotypic distribution was found (P = 0.008). No significant difference was found in the frequencies of various haplotypes between the two groups.@*Conclusion@#Genotypes of the rs1202184 locus of the MDR1 gene are associated with refractory epilepsy in children, for which the AA genotype plays a dominant role.

The technical development and application prospects of CRISPR/Cas9 in laboratory medicine / 中华检验医学杂志

Clustered regularly interspaced short palindromic repeats/CRISPR-associated nuclease 9 (CRISPR/Cas9),a cluster of regularly spaced short palindromic repeats,is a natural immune defense system for bacteria and archaea to identify themselves and exogenous invading DNA fragments,protecting them from viruses.In recent years,CRISPR/Cas9 has become a revolutionary gene editing tool.Its specific targeted spot-cutting ability also plays an important role in nucleic acid detection,bacterial typing,etc.,and has shown great application potential in the field of medical testing.Based on the latest researches,this paper reviews the progress of CRISPR/Cas9 application in the new techniques of nucleic acid detection,pathogen typing and bacterial evolution in laboratory medicine,and also summarizes the application prospect of CRISPR technology in the field of laboratory medicine.

Clinical, imaging features and follow-up study of schizencephaly in 35 children / 中华实用儿科临床杂志

Objective To summarize the correlation between clinical manifestations and imaging characteristics of schizencephaly in order to provide a basis for the diagnosis and prognosis.Methods Thirty-five outpatients with schizencephaly diagnosed at Department of Pediatric Neurology of Henan Provincial People's Hospital from January 2009 to May 2015 were retrospectively selected,and they were divided into different groups (patients with unilateral lesions or bilateral lesions) according to their cranial magnetic resonance imaging (MRI) features.The clinical manifestations were compared between different groups.Results Of 35 patients,19 (54.3％) patients were male and 16 (45.7％) patients were female.Twenty-four patients were found with unilateral lesions (68.6％),including 16 cases (66.7％) with hemiparesis and 8 cases(33.3％) with no motor impairment.Mental retardation was observed in 8 patients (33.3％) and 6 patients (25.0％) showed speech impairment.Eleven patients were found the bilateral lesions (31.4％),including 5 patients (45.4％) with tetraparesis,4 patients (36.4％) with hemiparesis,and 2 paticnts (18.2％) with no motor impairment.Mental retardation was observed in 9 patients (81.8％) and 9 patients (81.8％) showed speech impairment.There were significant differences in motor impairment,mental retardation and speech impairment between the unilateral lesion group and bilateral lesion group (Z =-2.40,P =0.002;x2 =7.09,P =0.012;x2 =9.94;P =0.003).Epileptic seizure occurred in 18 patients (51.4％).Binary Logistic regression analysis indicated that cortical dysplasia beyond the cleft and open-lip lesions were the major risk factors for seizures (OR =4.44,2.73;P =0.005,0.029).Imaging characteristics:there were closed-lip lesions in 10 patients (28.6％),open-lip lesions in 21 patients (60.0％) and open/closed-lip lesions in 4 patients (11.4％).Anatomic localization of all clefts was found in the frontal lobes in 19 patients (54.3％),in frontoparietal lobes in 11 patients (31.4％),in parietal lobes in 2 patients (5.7％),and in occipital lobes in 3 patients (8.6％).After 1-6-year follow-up,12 patients treated with antiepileptic drug were seizure-free (all with unilateral lesions),and 6 patients had refractory epilepsy (3 patients with bilateral lesions).Conclusions Schizencephaly is a rare structural disorder of cerebral cortical development.Those with bilateral lesions are usually manifested with severe motor,speech impairment and mental retardation and their prognosis is poor.Schizencephaly patients complicated with cortical dysplasia beyond the cleft or open-lip lesions are more easily attacked by seizures.MRI plays an important role in the diagnosis and prognosis judgment of schizencephaly.

Serotyping and genotyping study of clinical Vibrio parahaemolyticus / 国际检验医学杂志

Objective To study the distribution and molecular characteristics of Vibrio parahaemolyticus(VP) in patients with a‐cute diarrhea ,and provide a scientific basis for the prevention and control of VP infection .Methods From 2010 to 2014 ,62 VP iso‐lates were collected from patients with acute diarrhea ,for serotyping and virulence gene (tdh and tdh) detection of VP .Molecular characteristics analysis was carried out by using multi‐locus sequence typing (MLST) .Results 7 different serotypes were found from the 62 isolates .O3∶K6 was the most common serotype of VP ,accounting for 74 .19% (46 isolates) ,followed by O4∶K68 (6 isolates) .Tdh gene was the mainly virulence gene ,with a percentage of 95 .16% (59 isolates) ,only three isolates were trh positive . 7 STs were found through MLST analysis of 62 VP isolates ,among which ,ST3 was the most important type ,accounted for 85 .50%(53 isolates) .Conclusion O3∶ K6 serotype VP was the most prevalent type .Tdh gene is the most important virulence gene of WP .ST3 was the the dominant epidemic type .

Synergistic Effect of Bone Marrow-Derived Mesenchymal Stem Cells and Platelet-Rich Plasma in Streptozotocin-Induced Diabetic Rats

BACKGROUND: Diabetic wounds are a major clinical challenge, because minor skin wounds can lead to chronic, unhealed ulcers and ultimately result in infection, gangrene, or even amputation. Studies on bone marrow derived mesenchymal stem cells (BMSCs) and a series of growth factors have revealed their many benefits for wound healing and regeneration. Platelet-rich plasma (PRP) may improve the environment for BMSC development and differentiation. However, whether combined use of BMSCs and PRP may be more effective for accelerating diabetic ulcer healing remains unclear. OBJECTIVE: We investigated the efficacy of BMSCs and PRP for the repair of refractory wound healing in a diabetic rat model. METHODS: Forty-eight rats with diabetes mellitus induced by streptozotocin were divided into four groups: treatment with BMSCs plus PRP, BMSCs alone, PRP alone, phosphate buffered saline. The rate of wound closure was quantified. A histopathological study was conducted regarding wound depth and the skin edge at 7, 14, and 28 days after surgery. RESULTS: Wound healing rates were significantly higher in the BMSC plus PRP group than in the other groups. The immunohistochemistry results showed that the expression of platelet/endothelial cell adhesion molecule 1, proliferating cell nuclear antigen, and transforming growth factor-beta1 increased significantly in the BMSC plus PRP group compared to the other treatment groups. On day 7, CD68 expression increased significantly in the wounds of the BMSC plus PRP group, but decreased markedly at day 14 compared to the controls. CONCLUSION: The combination of BMSCs and PRP aids diabetic wound repair and regeneration.

Design for ultrasonic diagnosis of osteoporosis based on ARM / 医疗卫生装备

Objective To develop a system for detection and diagnosis of osteoporosis by using quantitative ultrasound technology.Methods An ARM embedded system was used to measure the speed of ultrasound,the broadband ultrasound attenuation(BUA) and the stiffness.The speed of ultrasound mainly reflects bone structural features,BUA mainly reflects bone density,and stiffness can synthetically reflects bone intensity.Results Based on an ARM microprocessor,the whole system could diagnose osteoporosis through the parameters sent by ultrasound.Conclusion The system for ultrasonic diagnosis of osteoporosis based on ARM can achieve precise diagnosis in clinic by setting osseous parameters database of normal people in different age,weight and sex.