The effect of adult growth hormone deficiency on cognitive function / 中华内分泌代谢杂志

Objective:To explore the effect of adult growth hormone deficiency on cognitive function in adults.Methods:A total of 19 hypophyseal or craniopharyngioma patients who underwent surgical treatment and were diagnosed with adult growth hormone deficiency in Department of Endocrinolog, the Second Affiliated Hospital, School of Medicine, Zhejiang University from June 2017 to June 2018 were selected as the case group, and 19 normal people were included as the control group. All the members were assessed with the cognitive function scale and brain functional magnetic resonance examination, data between the groups were analyzed.Results:The body weight within a year of case group was significantly increased than that of the control group( P=0.017). Compared with the control group, the case group was relatively inattentive and had decreased memory(Time of stroop color words test-a, test-c, and trail-making test-A, P values were 0.009, 0.018, 0.020 respectively; Auditory word learning test N6, P=0.008). The executive function and language ability of the case group were weakened compared with the control group(Raven′s matrices score E1-E12, P=0.022; Time cost and the number of arrivals in 1 min of connection test B, P values were 0.023, 0.004; Symbol digit modalities test, P=0.037; The number of words spoken in 46-60 s and total number in 0-60 s of the case group was less than the control, P values were 0.030, 0.006). The general mental state of the case group was worse than the control group( P=0.018). The accuracy of the 2-back task of the case group was significantly lower and the activation signal of the left frontal lobe in the case group was significantly weaker( P<0.005). Conclusions:Adult growth hormone deficiency may increase obesity risk and have a detrimental influence on patients′ overall mental health, resulting in varying degrees of cognitive impairment. Working memory impairments associated with adult growth hormone deficiency may be a result of decreased frontal lobe brain activity.

Genetic analysis of a child with developmental disorder and epilepsy due to a homozygous variant of PIGW gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring global developmental disorder with epilepsy.@*METHODS@#A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance.@*CONCLUSION@#The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.

Effect of combination therapy with sitagliptin on abdominal visceral fat area in patients with type 2 diabetes mellitus / 中华全科医师杂志

The clinical data of 96 patients with type 2 diabetes mellitus (T2DM) treated in Department of endocrinology of our hospital from January 2016 to December 2017 were retrospectively analyzed. All patients had been treated with metformin ≥1 000 mg combined with sulfonylureas for>12 weeks and their glycosylated hemoglobin (HbA1c) was>7.5%. On the basis of the original scheme, 57 patients received oral sitagliptin (100 mg q.d, sitagliptin group) and 39 patients received insulin glargine injection (insulin group) for 26 weeks. The blood lipid, liver and kidney function were examined before and after treatment. The abdominal visceral fat area (VFA) was measured by CT scan. Results showed that the fasting plasma glucose (FPG) , 2-hour postprandial blood glucose (2 hPG) and HbA1c were significantly lower than baseline levels in both groups(P<0.05). The decrease of VFA in sitagliptin and insulin groups was by 9.6 (1.4,19.6)cm2 and by 8.3(-2.2,26.8) cm2, respectively; there was significant difference in variation of VFA before and after treatment between the two groups (P<0.05). There was no significant difference in blood pressure, liver function (ALT, AST) and estimated glomerular filtration rate (eGFR) before and after treatment in the sitagliptin group (P>0.05). Additional sitagliptin administration can effectively and safely reduce HbA1c and decrease the abdominal visceral fat content in T2DM patients who failed to metformin and sulfonylureas combined therapy.

The clinical outcome and complications of Ex-PRESS glaucoma shunt implantation / 中国医师杂志

Objective To report operative course and relative complications in a group of patients who underwent Excessive Pressure Regulation System (Ex-PRESS) glaucoma shunt implantation in the real world,and discuss the ralated factors and possible interventions in clinical practice.Methods Preferred Ex-PRESS glaucoma shunt implantation were performed on 11 eyes with deverse types of glaucoma.Operative course and relative complications were analyzed from recorded tapes and documents.The correlations between complications,types of glaucoma,and previous procedures were analyzed,the complications were appropriately managed.Results 11 patients with diverse types of glaucoma who underwent Ex-PRESS glaucoma shunt implantation were recruited for the study.Among them,2 patients had combined phacoemulcification surgery,1 patient had repeat shunt implantation.During the procedure,1 patient had dislocated shunt into anterior chamber;1 patient had shunt entirely inserted into anterior chamber with plunger.4 patients had hypotony and flat anterior chamber,2 of them had hyphema,2 experienced subchoroid detachment.1 patient had intraocular lens pupil clamping after combined cataract and glaucoma surgery;4 cases had flat filtering blebs and uncontrolled intraocular pressure during the follow-up period,2 of them had blocked drainage and proliferative anterior synechia around the head,which was found in the patients with primary angle-closure glaucoma who had previous operation history.The common long-term complication was external ostium occlusion (4/11).The complications of drainage are related to the type of glaucoma and the history of operation.Conclusions Other than the complications which present commonly in trabeculectomy procedure,there were some complications related to the Ex-PRESS glaucoma shunt.History of ocular surgery,surgical techniques and the type of disease were associated with the incidence of complications.

Analysis of the influential factor of anxiety and depression scores in patients with broken limb (finger) / 中国基层医药

ObjectiveTo analyze the influential factor of anxiety and depression scores in patients with broken limb(finger),and find the effective nursing interventions.MethodsThe international general hospital anxiety and depression scale research studies on the 100 patients with broken limb(finger) were conducted.ResultsThe patients' age,education level,the nature and size of the company,pre-service training,the level of income and the patients' family economic conditions had a significant impact on scoring a high level of anxiety and depression in patients with broken limb (finger).The differences between the various influencing factors were statistically significant (F =2.926,2.722,t =5.701,4.117,3.311,2.837,3.021,2.947,4.106,3.199,5.286,4.310,5.129,4.152,all P ＜0.05 ).Then the patients' gender,marital status,work experience,the time of injury for overtime and the injured situations do not constitute the relevant factors affecting the patients' anxiety and depression scores.ConclusionPatients with broken limb(finger) have a high incidence of anxiety and depression.The patients' age,education level,the nature and size of the company,pre-service training,the level of income and the patients' family economic conditions have significant impact on scoring a high level of anxiety and depression in patients with broken limb (finger).Clinical care for such patients,should be thought their background,in order to take appropriate nursing intervention.

Transfection of WT1 gene isoforms and establishment of leukemia cell lines stably overexpressing WT1 gene / 中国病理生理杂志

AIM: To transfer 4 full-length WT1 isoforms cDNA into the leukemia cell line NB_4 so as to provide a cell model for studying the WT-1 gene function. METHODS: The eukaryotic expression recombinant vectors for WT1 isoforms (pCB6+/WT1) were introduced into the leukemia cell line NB_4 by electroporation. The positive cell clones were screened by G418 culture. The integration of WT1 gene isoforms in NB_4 cells as confirmed by PCR. The mRNA and protein of WT1 were detected by RT-PCR and Western blotting. RESULTS: WT1 gene isoforms were successfully transferred into NB_4 cells. WT1 mRNA and protein expression in the G418-selected cells increased remarkably compared with the control. CONCLUSION: WT1 gene isoforms were effectively transferred into NB_4 cells by electroporation and stably expressed in the transfected cells.