Bardet-Biedl syndrome: a case report / 中华肾脏病杂志

Bardet-Biedl syndrome (BBS) is an autosomal recessive hereditary rare disease with high heterogeneity in clinical phenotypes, which can affect multiple systems, such as six fingers/digits deformity, mental impairment, retinopathy, polycystic kidney, etc, and is easily diagnosed according to a single system disease, resulting in misdiagnosis. The paper reports a case of BBS, diagnosed with "renal cyst, developmental delay, chondrosis, and left foot hexadactylism" at 5 years old, "anemia, renal insufficiency, distal renal tubule poisoning, renal osteodystrophy" at 7 years old. At 10 years old, the patient received hemodialysis treatment for uremia. Cloudy vision appeared in both eyes at 14 years old. Because of the prominent manifestation of kidney damage, the patient was misdiagnosed as "polycystic kidney" for a long time, and other systemic damages were ignored. The result of gene sequencing showed that chromosome 16 NM_031885.5 exon17 had one homozygous nonsense mutation. Therefore, the patient was accurately diagnosed as BBS. This paper is the first report of BBS in Li nationality in China. The relevant literature of BBS were reviewed to strengthen clinicians' understanding of the disease and improve patients' prognosis.

Correlation of gut dominant microbiota with hyperuricemia / 浙江大学学报·医学版

OBJECTIVES@#To study the correlation of intestinal dominant flora with hyperuricemia, and to explore influencing factors of hyperuricemia.@*METHODS@#Data of gut dominant microbiota were collected from subjects who underwent health check-up in Shulan (Hangzhou) Hospital from January 2018 to April 2020. Subjects with high uric acid and normal uric acid were matched by propensity score matching method according to age, gender and body mass index (BMI). This resulted in 178 pairs as hyperuricemia group and control group. The gut dominant microbiota between hyperuricemia and normal control group were compared. Pearson or Spearman correlation coefficient method was used to analyze the correlation between blood uric acid and intestinal dominant flora. Univariate and multivariate logistic regression were used to analyze the influencing factors of hyperuricemia.@*RESULTS@#The abundance of Atopobium, Lactobacillus, Bacteroides, Enterococcus, Clostridium leptum, Fusobacterium prausnitzii, Bifidobacterium, Clostridium butyricum and the ratio of Bifidobacterium to Enterobacter (B/E) in the hyperuricemia group were significantly lower than those in the control group (all P<0.01). The correlation analysis showed that serum uric acid were negatively correlated with the abundance of Atopobium (r=－0.224, P<0.01), Bacteroides (r=－0.116, P<0.05), Clostridium leptum (r=－0.196, P<0.01), Fusobacterium prausnitzii (r=－0.244, P<0.01), Bifidobacterium (r=－0.237, P<0.01), Eubacterium rectale (r=－0.125, P<0.05), Clostridium butyricum (r=－0.176, P<0.01) and B/E value (r=－0.127, P<0.05). Multivariate logistic regression analysis showed that glutamyl transpeptidase was an independent risk factor for hyperuricemia (OR=1.007, 95%CI: 1.002-1.012, P<0.05), and the Atopobium was an independent protective factor for hyperuricemia (OR=0.714, 95%CI: 0.605-0.842, P<0.01).@*CONCLUSIONS@#There are alterations in abundance of gut dominant microbiota in patients with hyperuricemia, and Atopobium abundance appears as a protective factor for hyperuricemia.

Risk factors analysis of true aneurysm formation of autogenous arteriovenous fistula in hemodialysis patients / 中华肾脏病杂志

Objective:To explore the risk factors of autogenous arteriovenous fistula (AVF) aneurysms (AVFAs) in maintenance hemodialysis (MHD) patients.Methods:The patients who used internal arteriovenous fistula (end to side anastomosis) of cephalic vein-radial artery at wrist as vascular access in Hainan Provincial People′s Hospital from June 1 to June 30, 2021 were selected as the research objects. The patients were divided into AVFAs group and non-AVFAs group according to whether AVF formed AVFAs. The clinical data and laboratory examination results between the two groups were compared. Binary logistic regression model was used to analyze the risk factors for the formation of AVFAs.Results:A total of 170 MHD patients were enrolled in this study, including 111 males (65.3%) and 59 females (34.7%), with age of (51.65±12.70) years old and dialysis age of (57.03±49.25) months. There were 33 cases in AVFAs group and 137 cases in non-AVFAs group. The incidence of AVFAs was 19.4%. Compared with non-AVFAs group, the proportion of males ( χ2=4.934, P=0.026) and the levels of serum uric acid ( t=2.547, P=0.012) and serum albumin ( t=2.122, P=0.010) in AVFAs group were higher; The age ( t=-2.210, P=0.028), the proportion of diabetes nephropathy ( χ2=11.788, P=0.001), systolic blood pressure ( t=-1.994, P=0.048) and total cholesterol ( t=-2.174, P=0.031) were lower; The diameter of anastomosis was wider ( Z=-3.224, P=0.001); Mantel-Haenszel chi square test analysis showed that dialysis age ( χ2=53.832, OR=0.518, P<0.001), AVF service time ( χ2=51.355, OR=0.516, P<0.001), and brachial artery blood flow ( χ2=25.315, OR=0.331, P<0.001) were correlated to the formation of AVFAs. The results of multivariate logistic regression analysis showed that males ( OR=10.005, 95% CI 1.875-53.394, P=0.007), longer dialysis age ( OR=1.341, 95% CI 1.104-1.628, P=0.003), longer AVF use time ( OR=1.187, 95% CI 1.002-1.405, P=0.047), higher brachial artery blood flow ( OR=1.002, 95% CI 1.000-1.004, P=0.028) and lower total cholesterol ( OR=0.388, 95% CI 0.172-0.875, P=0.022) were the independent risk factors for the formation of AVFAs. Conclusions:The incidence of AVFAs in MHD patients is 19.4%. Males, long dialysis age, long AVF use time, high brachial artery blood flow and low total cholesterol level are the independent risk factors for the formation of AVFAs.

Effect of mirtazapine in depressive functional dyspepsia patients with weight loss / 中华行为医学与脑科学杂志

Objective To discuss the effect of mirtazapine in depressive functional dyspepsia patients with weight loss (FD-WL).Methods As a randomized and controlled trial,seventy-two FD patients with weight loss and depression were randomly divided into mirtazapine group(n=24),paroxetine group(n=23) and conventional group(n=25),and all patients were treated for 8 weeks.The Nepean Dyspepsia Index (NDI)-symptom checklist,the Hamilton Rating Scale of Depression (HAMD),body weight were assessed before the treatment and after 2,4,6,8 week.Results (1) After 2-week treatment,the scores of NDI-symptom checklist and HAMD in mirtazapine group were significantly lower than that in paroxetine group and conventional group.After 4-week,6-week and 8-week treatment,the score of HAMD in mirtazapine group((13.34±1.52),(11.65±1.56),(10.15±1.36)) and paroxetine group((13.65±1.81),(11.34±1.21),(9.58±1.41))was significantly lower than that in conventional group((18.15±1.61),(17.20±2.14),(15.30±1.56)) (all P0.05).(2) After 6-week and 8-week treatment,the body weight in mirtazapine group((53.17±6.46)kg,(53.55±6.52)kg)was significantly higher compared with that in paroxetine group((49.47±5.72)kg,(49.57±5.81)kg)and conventional group((48.69±5.60)kg,(48.68±5.65)kg)(all P<0.05).After 8-week treatment,patients in mirtazapine group experienced a weight gain of(3.34±1.82)kg.Conclusion Mirtazapine not only can significantly improve dyspepsia symptoms and depressive scoring,but also can increase body weight.

Resting-state functional magnetic resonance imaging of first-onset major depressive disorder: analysis of 18 cases / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the changes in brain regional homogeneity in first-onset major depressive disorders (MDDs) using resting-state functional magnetic resonance imaging (fMRI).</p><p><b>METHODS</b>Eighteen patients with first-onset MDDs and twenty gender- and age-matched healthy controls underwent resting-state fMRI scans to compare the regional homogeneities of the brain regions.</p><p><b>RESULTS</b>Compared with the normal controls, the patients with MDDs showed significantly decreased regional homogeneity in the left posterior cingulated gyrus, bilateral inferior temporal gyrus, bilateral superior temporal gyrus, left inferior frontal gyrus, left hippocampa gyrus, left posterior central gyrus, left angular gyrus, right amygdala, right orbital frontal gyrus, right supplementary motor area, and right cerebellar lobe.</p><p><b>CONCLUSION</b>Patients with first-onset MDDs have dysfunctions in the brain regions closed related with cognition and emotional control.</p>

Clinical features, quality of life and psychological factors in functional dyspepsia patients with weight loss / 中华消化内镜杂志

Objective To investigate clinical characteristics,quality of life,and psychological factors in functional dyspepsia (FD) patients with weight loss.Methods A multi-center and prospective investigation was conducted (Clinical trial registration number:ChiCTR-TRC-12001968) which recruited 1341 consecutive FD outpatients from three Guangdong hospitals according to Rome Ⅲ criteria between June and September in 2012.Of these,1057 patients with complete information were divided into group A as having weight loss more than 5％ (n =207) and group B as having weight loss less than 5％ (n =850).Nepean Dyspepsia Index-symptom checklist,appetite,Hamilton Rating Scale of Anxiety/Depression (HAMA/HAMD),Pittsburgh Sleep Quality Index (PSQI),Nepean Dyspepsia Index-quality of life,direct medical costs were used to compare the differences between the two groups.Results There were no significant differences in total scores of NDI-symptom checklist,the severity or bothersome items between two groups (t =-1.301、-0.918、0.138,P =0.193、0.359、0.890),but significant differences were observed in the frequence item and the rating of appetite as poor or very poor between two groups (t =-2.122,P =0.035 ;x2 =35.448,P =0.000 ;x2 =35.274,P =0.000).Significant differences were observed in the incidence of anxiety and depression and total scores of PSQI between the two groups (x2 =73.939,P =0.000;x2 =47.046,P =0.000 ; t =-4.904,P =0.000).Subscales scores of NDI-quality of life in group B were all significantly higher than those in group A (t =5.348、2.569、5.809、4.704,P =0.000、0.010、0.000、0.000).There were significant differences in the frequency of care-seeking and direct medical costs between the two groups (t =-4.860、-3.011,P =0.000、0.003).The frequency of gastroscopic examinations in group A was slightly higher than that in group B (t =-1.505,P =0.133).Conclusion FD patients with weight loss is not rare,and most of them have psychological disorders,loss of appetite and sleep disturbance.Moreover,care-seeking are more frequent,direct medical costs are more expensive,and impairment as assessed by NDI-QOL is more severe.Therefore,we should pay more attention to FD with weight loss in clinical setting.

Application of Genetic Algorithm in Image Segmentation of Gene Chips / 医疗卫生装备

Objective The image segmentation of low-density gene chips based on genetic algorithm, which can implement the function of region identification, is achieved. Methods After image denoising by wavelet analysis, image segmentation is accomplished by genetic algorithm. Results The method can detect the region of sampling point more precisely. It can also effectively separate the valuable weak signal points and background or noise. Conclusion The method can accomplish the function of image segmentation of low-density gene chips, which can provide relative accurate data information for future image analysis

Prospect of the standard of medical instrument communication in application / 医疗卫生装备

With the development of digital hospital construction,the concept of digital hospital has been accepted by lots of hospitals.All sorts of medical information purely facing to medical affairs and its integrated research have become more and more important.Digital management of medical service in hospital has been one of the important field in hospital management,so it has brought a new research orientation on application in the communication standard of medical service.

Quality of Life of Patient with Primary Insomnia / 中国心理卫生杂志

Objective:To explore the quality of life in patients with primary insomnia.Methods:Comprising 85 patients diagnosed as primary insomnia and 57 healthy controls,the study analyzed and compared the differences in quality of life between the two groups.Results:(1)Compared with healthy controls,the patients with primary in- somnia decreased in quality of life.total score,Physical functions,psychological function and social function in pri- mary insomnia group were significantly lower than those in control group in score of generic quality of life inventory (score:254.9?26.4/287.1?30.4,t=-5.15,P