Objective:To observe the clinical efficacy and safety of piracetam tablets combined with butylphthalide soft capsules in the treatment of patients with lacunar infarction(LI) complicated with vascular cognitive impairment(VCI). Methods:Totally 87 cases of patients with LI and VCI were selected and randomly divided into the control group(44 cases)and the treatment group(43 cases). The control group was only treated with piracetam tablets(1. 2 g,tid),while the treatment group was treated with piracetam tablets(1. 2 g,tid)and butylphthalide soft capsules(0. 2 g,qid),and the treatment course was 30 days. The changes of MMSE score,serum of SOD level and adverse drug reactions were observed and compared in the two groups. Results:Compared with those before the treatment,the mini-mental state examination(MMSE)score and serum level of SOD of the two groups were increased(P < 0. 01)after the treatment,and the increase in the treatment group was more notable than that in the control group(P < 0. 01and P < 0. 05). The effective rate of the treatment group was 86. 05% ,which was higher than that of the control group(75. 00% ,P < 0. 05). Conclusion:Piracetam combined with butylphthalide soft capsules can effectively improve the cognitive impairment of the patients with LI and VCI,and the effect may be related with increasing the level of SOD.

Objective To explore the effects of nutritional support and nursing intervention on the score of dyspnea, body mass index (BMI), respiratory function and quality of life in elderly patients with chronic obstructive pulmonary disease (COPD). Methods A total of 118 cases of elderly patients with COPD who were hospitalized in Ningbo First Hospital from January 2014 to January 2016 were selected by simple random sampling method and divided into observation group and control group by random number table method, with 59 cases in each group. The observation group received nutritional support and nursing intervention, while the control group was given routine nursing intervention. The score of dyspnea, BMI, the distance of 6-minute walking test (6MWT) and respiratory function were compared between the two groups. The St George's Respiratory Questionnaire (SGRQ) was applied to evaluate the quality of life of the patients. Results There was no significant difference in the score of dyspnea, BMI, 6MWT, respiratory function and the score of SGRQ between the two groups before intervention (P> 0.05). After intervention, the score of dyspnea of the observation group was lower than that of the control group (P<0.05); the BMI and 6MWT of the observation group were higher than those of the control group (P>0.05); the respiratory function of the observation group was better than that of the control group (P< 0.01); the symptom score, activity score, degree of influence score and SGRQ total score of the observation group were significantly lower than those of the control group (P<0.05), and all the differences were statistically significant. Conclusions The nutritional support and nursing intervention have a major impact on dyspnea score,BMI, SGRQ score, and 6MWT in elderly patients with COPD. It can significantly improve the clinical efficacy and quality of life of patients, and is worthy of clinical promotion.

OBJECTIVE: To carry out genetic testing for a male infant suspected for Menkes disease. METHODS: Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Suspected variants were subjected to bioinformatic analysis and verified by Sanger sequencing. RESULTS: The proband was found to harbor a de novo c.1870 -13T>G variation of the ATP7A gene, which may alter a splice site and affect its protein product. CONCLUSION The patient was diagnosed with Menkes disease due to the c.1870 -13T>G variant of the ATP7A gene. Whole exome sequencing of family trios is a powerful tool for the diagnosis of diseases with strong phenotypic heterogeneity.
Copper-Transporting ATPases ; genetics ; Genetic Testing ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome ; genetics ; Multiplex Polymerase Chain Reaction ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations. METHODS: Clinical manifestations, absolute blood neutrophil count, high-throughput exome sequencing for mutation screening, suspected locus Sanger sequencing verification, processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed. RESULTS: High-throughput sequencing has found that proband 1 has carried a heterozygous c.170C>T (p.Ala57Val) missense mutation in exon 2 of the ELANE gene, which was known to be pathological, and a heterozygous c.251T>G (p.Leu84Arg) mutation in exon 3 of proband 2, which was unreported previously. Sanger sequencing confirmed that neither mutation was inherited from their parents. CONCLUSION ELANE mutation is an important cause for congenital neutropenia. Detection of new pathogenic variants has enriched the mutation spectrum of the ELANE gene.

Objective To compare seminal carnitine levels between normal males and asthenozoospermic patients,evaluate its correla-tion with progressive motility(PR)of sperm,and observe the effects of exogenous carnitine supplementation on asthenozoospermic pa-tients.Methods Semen samples were collected from 511 normal fertile males and asthenozoospermic patients.Seminal was measured using a fixed-time assay kit and the levels of carnitine were compared between the two groups.The consistency between seminal carni-tine and PR was assessed.Additionally,77 asthenozoospermic patients received L-carnitine(1 g/time,3 times/day,30 days/course).The levels of seminal carnitine and PR alteration pre-and post-treatment were monitored.Results The seminal L-carnitine level in the patients with asthenospermia([194.34±65.41]μmol/L)was significantly lower than that in normal fertile males([405.43±72.12]μmol/L)(P＜0.01).When the seminal L-carnitine level ≥325 μmol/L was set as the threshold,the statistical results showed that Kappa value was 0.81,with a diagnostic coincidence rate of 93.74％.After one course of administration of L-carnitine,the concentra-tion of seminal L-carnitine([356.03±84.87]μmol/L)and PR([32.69±8.35]％)were significantly higher those that before treat-ment([183.61±79.54]μmol/L and[16.56±7.74]％,P＜0.01).Conclusion The seminal carnitine assay kit could be used for ac-curate and high-throughput quantification of clinical samples,facilitating asthenozoospermia diagnosis and therapeutic efficacy evalua-tion.Exogenous carnitine supplementation may elevate seminal carnitine levels and sperm motility in asthenozoospermic patients and po-tentially improve their fertility.