This paper comprehensively reviewed the practice and meanings of non-invasive prenatal test (NIPT) in China and discussed the ethical issues.NIPT,as a step of prenatal diagnosis,brought conflicting values and moral economic influences.Its widely application also imposes higher requirements on policy regulation and lead to some ethical issues,including whether the client really informed consent.Genetic counselling is also crucial before and after the test.However,the subjects,doctors and medical staff have not yet fully prepared.Furthermore,this technique is relatively simple and cheap,and its application relates to many aspects.It is necessary to discuss the influence at the early stage and put forward the ethical issues that need to be paid attention to.Therefore,life ethics expert participation is extremely important,and to some extent will leadfetal and maternal supervision,management and supervision to a new level,especially with the development of NIPT and the application of whole genome sequencing (WGS).

OBJECTIVETo investigate the relationship between hormone sensitive lipase (HSL) gene polymorphism and aerobic endurance.

METHODSThe (CA)n repeats polymorphism genotypes in HSL intro 6 of 123 outstanding long distance runners and 127 controls of Han nationality in northern China were analyzed by PCR and Fluorescence labeled STR-genescan. Repeat polymorphisms were grouped according to segmentation point and alleles were divided into long or short chains. Chi-square test was used to analyze the frequency difference of allelic and genotypic between athlete and control groups.

RESULTS(CA) n repeats polymorphism in HSL gene was total of 9 different repeat number of alleles, which composed of 25 different genotypes. The chi-square test result showed that when compared short and long chain alleles split by 4, there was a significant difference (P <0.05) of genotype distribution in 5/10 km group compared with control. Compared the rest groups with control, there was no significant difference.

CONCLUSIONCompared short and long chain alleles split by 4, the LL genotype of (CA)n of HSL was associated with aerobic endurance and it might be a molecular marker of elite 5/10 km long distance runners.

Alleles ; China ; Ethnic Groups ; Genotype ; Humans ; Physical Endurance ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sterol Esterase ; genetics

Fragmentation behavior of diterpenoids was investigated by ESI/MSn and the qualitative analysis of diterpenoids in the bark of Pseudolarix kaempferi was performed using high-performance liquid chromatography/ multi-stage mass spectrometry (HPLC-ESI/MSn). The characteristic fragmentation behaviors of the diterpenoids are the cleavages of the lactone ring and C4-O bond. Furthermore, the eliminations of substituent groups at C-18, C-7 and C-8 can also be observed in the MS" (n = 3-4) spectra. For C-4 acetoxy subsititued diterpenoids, [M+Na-60]+ and [M-H-104] are the base peaks of MS2 spectra in the positive and negative ionization modes, respectively. For C-4 hydroxyl subsititued diterpenoids, [M+Na-44]+ and [M-H-62] are the base peaks of MS2 in the positive and negative ionization modes, respectively. For C-18 glucosylated or esterized diterpenoids, [M+Na-44]+ is the base peak of MS2 spectra in positive ionization mode. These fragmentation rules were successfully exploited in the identification of diterpenoids in methanol/water (6:4) extract of P. kaempferi by LC-MS in positive ionization mode. A total of 9 diterpenoids were identified or tentatively characterized, and one of them is reported here for the first time. The described method could be utilized for the sensitive and rapid qualitative analysis of P. kaempferi.

Objective To assess the safety and efficacy of an olive oil-based lipid emulsion for parenteral nutrition in patients after esophagectomy.Methods In the randomized controlled trial,60 patients undergoing esophagectomy were divided into study group(n=30,received olive oil-based lipid emulsion)and control group [n=30,received medium-chain triglyceride/long-chain triglyceride(MCT/LCT)emulsion].The parenteral nutrition Was provided for 7-10 postoperative days.The nutritional formulas were equivalent in nitrogen,calorie,osmotic pressure,and fluid volume.Peripheral venous blood tests were performed before operation and on the first and eighth postoperative days.All the patients were evaluated by nutritional status(weight,body mass index,nutritional risk screening,etc.),safety profiles[full blood test,electrolytes,aspartate aminotransferase(AST),alanine amiotransferase(ALT),total bilirubin and direct bilirubin,blood urea nitrogen(BUN),creatinine,blood glucose,etc.],and efficacy indicators(hemoglobin,albumin,total protein,etc.).Results The albumin and total protein levels returned to the normal ranges in beth groups 8 days after operation,although both levels were significantly higher in study group(P=0.000).Also,the difference of total protein levels between the eighth and first postoperative days Was significantly higher in the study group(P=0.002).In addition,the AST and BUN readings returned to normal ranges 8 days after operation in the study group, which were significantly lower than those in control group (P = 0.025, P = 0.013).No serious adverse events were reported in both groups.Other nutritional parameters, renal and hepatic safety profiels, vital signs, and hematology showed no significant difference between two groups.Conclusions Olive oil-based lipid emulsion is a safe and efficient lipid emulsion for parenteral nutrition in patients undergoing esophagectomy.Compared with MCT/LCT, it has less effect on AST and BUN.

Objective To explore the clinical outcome of atlantoaxial pedicle screw instrument in treatment of extension-type odontoid fracture combined with aflantoaxial subluxation. Methods From December 2002 to December 2006, seven patients with extension-type odontoid fracture combined with at-lantoaxial subluxation were reduced and fixed with atlantoaxial pedicle screw instrument of Vertex system under general anesthesia. There were five males and two females, at mean age of 39.2 years (range 21-59 years). All odontoid fractures were fresh type Aderson Ⅱ. JOA scores of spinal core function was 8.6-14.9 (average 10.7) preoperatively. The X-ray examination, CT scanning and skull traction were performed in all patients preoperatively. Results There found no severe complications such as injuries of vertebral artery, nerve root and spinal cord postoperatively. All patients obtained complete reduction and healing of the fracture and dislocation. The mean off-bed time was four days (3-6 days) after opera-tion. A follow-up for 12-36 months (average 22 months) in all patients showed that the clinical symptom was improved significantly six months postoperatively and that all screws were in proper position verified by X-ray and CT scanning. All patients obtained solid bony union on radiographs, with no loosing or breakage of instrument. The postoperative JOA scores was 13.5-16.9 (average 15.8). Conclusions Allantoaxial pedicle screw fixation has advantages of intraoperative reduction, reliable fixation and high fusion rate and can be used as an effective method for extension-type odontoid fracture combined with at-lantoaxial subluxation.

Objective To discuss the diagnosis and treatment of cerebral sparganosis. Methods To summary four cases of cerebral sparganosis, focusing on the clinical course and imaging findings, with the goal of better diagnostic skills. Results All 4 cases had some kind of misdiagnosis and improvement after surgery or parasiticidal pharmacotherapy. Cerebral MRI and CT scans revealed relatively extensive white matter degeneration and focal enhancements. Subsequent scans showed changes in shape and location of the enhanced foci, indicating the migration of sparganum. Pathologic findings of 3 patients who had undergone surgery showed granuloma and sparganum. Conclusions Cerebral sparganosis has relatively special manifestions on imaging, which are of diagnostic value. The spaganum should be as completely removed as possible during surgery.

To observe the clinical effect of Yisui decoction plus western medicine in treating multiple system atrophy patients, totally 65 patients from China-Japan Friendship hospital during 2008-2012 with complete clinical data and received consecutive traditional Chinese medicine and western medicine treatment for more than 3 months were observed changes of traditional Chinese medicine symptom score, part 1 of unified multiple system atrophy rating scale, orthostatic hypotension before treatment and after 3 months treatment. After 3 months treatment, total effective rate of traditional Chinese medicine symptom was 70.8%. Compared with before treatment, score of part 1 of unified multiple system atrophy rating scale was obviously reduced after 3 month treatment (P < 0.001). Ex- cept swallow function without significant improvement, the remaining projects of unified multiple system atrophy rating scale were im- proved obviously (P < 0.05), of which the most obvious differences were orthostatic symptoms, falls and intestinal function (P < 0.001). Orthostatic hypotension after 1 month treatment and 3 month treatment was obviously better than before treatment (P < 0.001). There was no significant difference in orthostatic hypotension between 1 month treatment and 3 month treatment. The research results show that Yisui decoction plus western medicine has a certain effect on improving clinical symptoms of multiple system atrophy patients, especially has a significant effect on orthostatic hypotension, and can maintain a stable clinical effect in a certain period of time.
Adult ; Aged ; Humans ; Hypotension, Orthostatic ; drug therapy ; Male ; Medicine, Chinese Traditional ; adverse effects ; methods ; Middle Aged ; Multiple System Atrophy ; drug therapy ; Retrospective Studies ; Treatment Outcome

OBJECTIVETo investigate the neuro-immune regulatory mechanism of Heart Benefiting recipe (HBR), an effective recipe for treatment of Alzheimer's disease (AD).

METHODSUsing immunohistochemical and RT-PCR methods, the neuro-immunological pathological changes in the AD rat model induced by beta-amyloid protein (A beta1-40) via lateral cerebral ventricle injection, including mainly the glial fibrillary acidic protein expression and inflammatory cytokines IL-1beta, IL-6mRNA and beta-amyloid protein precursor (APPmRNA) gene expression were studied. And the effects of HBR on these parameters were observed.

RESULTSDeposition of A beta in cerebral tissue could induce activation of stellate glial cells and abnormal increased levels of inflammatory cytokines (IL-1beta and IL-6mRNA), also the elevation of APPmRNA level. HBR could effectively control the above-mentioned pathological changes.

CONCLUSIONHBR could effectively control the inflammation and the A beta immune cascade reaction in brain of AD patients, it is one of the important therapeutic mechanisms of the recipe.

Alzheimer Disease ; chemically induced ; metabolism ; Amyloid beta-Peptides ; Amyloid beta-Protein Precursor ; biosynthesis ; genetics ; Animals ; Brain ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Interleukin-1 ; biosynthesis ; genetics ; Interleukin-6 ; biosynthesis ; genetics ; Male ; Neuroprotective Agents ; pharmacology ; RNA, Messenger ; biosynthesis ; genetics ; Random Allocation ; Rats

Objective To investigate the epidemiology of bacterial infections after liver transplantation and anaIyze the antimi- crobial susceptibility of major pathogens to provide reference for clinical therapy.Methods A retrospective survey was conduc ted in 174 patients who underwent liver transplantation during 2001 and 2004.Identification and susceptibility of pathogens were assayed by Microscan Walkaway 40 Automatic System.Results Infection was identified in 59.8% of the 174 patients after liver transplantation.A total of 218 non-duplicate strains were isolated.Most infections were caused by single pathogen.The infection was frequently identified in respiratory tract,biliary tract,blood stream or intra-abdominal cavity.The top 5 patho- gens were Acinetobacter baumannii,Staphylococcus aureus,Pseudomonas aeruginosa,Stenotrophomonas maltophilia and Escherichia coli.Gram-negative bacilli were usually resistant to multiple antimicrobial agents,but less resistant to piperacillin- tazobactam or imipenem.Most of S.aureus isolates were methicillin-resistant,which were susceptible to vancomyein.Conclu- sions Pathogens of postoperative infections in liver transplantation recipients are mostly multi-drug resistant.The microbiologi- cal surveillance is important for guiding clinical therapy.

Objective To investigate and analyze the preventive effect of boron on the cartilage damage in rats with intake excessive fluoride. Methods Fifty-ix Sprague-Dawley rats were divided into the control group (C, intake distilled water), the excessive fluoride dose group (EF, intake distilled water with 100 ppm F-) and the boron prevention group (P, intake distilled water with 100 ppm F- as well as the supplemental boron dietary). 3 to 5 months later, fluorine contents in serum, RNA contents in costal cartilage were assayed. The morphological changes in tibia growth plate cartilage (GPC) in rats were observed. Results Although exposed to the same dose of fluoride, the fluorine contents in serum in rats of P group decreased notably compared with those of EF group, the damage of tibia GPC under optical and electron microscope lessened significantly, and RNA contents in costal cartilage increased obviously in the 3rd month. Conclusion Boron added could decrease the fluorine level in the body and relieve the toxic symptom of excess fluoride, and thus boron has a preventive effect on skeletal fluorosis.