Category: Nevin Manimala

Zhonghua Fu Chan Ke Za Zhi. 2021 Nov 25;56(11):788-795. doi: 10.3760/cma.j.cn112141-20210722-00395.

ABSTRACT

Objective: To study the difference between BRCA gene mutations in hereditary breast and ovarian cancer syndrome (HBOC) and in sporadic ovarian cancer (SOC). Methods: This study was for exploratory research, the inclusion criteria were 284 patients with ovarian cancer admitted at Shanxi Provincial Cancer Hospital from November 2018 to December 2019, with high-throughput DNA sequencing including the full coding regions and exon-intron link regions of BRCA1 and BRCA2 gene. Pathogenic mutations in the BRCA gene of patients with ovarian cancer were collected and mutation site analysis was performed to compare phenotypic differences in pathogenic mutations between HBOC syndrome and SOC patients. Results: (1) Of the 284 ovarian cancer patients, seventy-seven had BRCA pathogenic mutations with a mutation rate of 27.1% (77/284), with BRCA1 mutation rate of 19.7% (56/284), BRCA2 gene 6.7% (19/284) and BRCA1/2 common mutation rate of 0.7% (2/284). Of the 284 patients with ovarian cancer, the pathogenic mutation rate in the BRCA gene in HBOC syndrome patients was 43.8% (32/73), which were significantly higher than that in SOC patients [21.3% (45/211); χ²=13.905, P<0.01]. Among BRCA1 gene mutation, the mutation rate in HBOC syndrome was higher than that of SOC [87.5% (28/32) vs 62.2% (28/45)], the BRCA2 gene mutation rate in patients with HBOC syndrome was lower than that in SOC patients [6.2% (2/32) vs 37.8% (17/45)], and there were statistically significant differences (all P<0.05). Two of the 77 patients with pathogenic mutations in the BRCA gene were multisite mutations, including one simultaneous two site mutation, one simultaneous three site mutation. There were 80 mutation sites with frameshift deletion mutations (55.0%, 44/80) and nonsense mutations (31.2%, 25/80). (2) Of the 73 patients with HBOC syndrome, 32 cases had pathogenic mutations in BRCA gene, including 28 cases in BRCA1, mainly in exon 11 and 24 (9 and 7 cases, respectively), and only two cases in BRCA2, both in exon 11; another two had multiple locus mutations. Of the 211 patients with SOC, 45 cases had pathogenic mutants in BRCA gene, including 28 cases in BRCA1, mainly in exon 11 and 24 (15 and 2 cases, respectively), and 17 cases in BRCA2, mainly in exon 11 (11 cases). (3) Thirty-four pathogenic mutation sites in BRCA gene were found newly, twenty of them were located in the BRCA1 gene, including a locus located on the intron 6, 301+1G>A, and the remaining 19 sites were located on the exons, including 283_286delCTTG, 68_69delAG, 132C>T, 514_547+3del37, 742delA, 1126_1129delAATA, 1196delA, 1352_1364del, 1465G>T, 2171delC, 2341G>T, 3359_3363delTTAAT, 4085_4086ins11, 4161_4162delTC, 4165_4166delAG, 4258G>T, 4338_4339del8insAGAA, 4468G>T, and 4783delA; fourteen sites were located in the BRCA2 gene, including a locus located on the intron 7, 631+1G>A, and the remaining 13 sites were located on the exons, including 2648delT, 2914A>T, 2950_2951insG, 4357+1G>A, 5054C>T, 5257A>T, 5291_5292insTC, 5913delT, 3593delA, 6091_6092insA, 6135_6136delTT, 7452delT, 9097_9098insA. A tal of 28 repeat mutations were located in the BRCA1 gene; among them, the site 5470_5477del8 was repeated 6 times, while 3 times in 981_982delAT. Conclusions: Patients with HBOC syndrome have a significantly higher rate of pathogenic mutation in the BRCA gene than that in patients with SOC. BRCA gene pathogenic mutation sites in HBOC syndrome patients occur commonly in exon 11 and 24 of BRCA 1 gene, while SOC patients occur mainly in exon 11 and 24 of BRCA1 gene and exon 11 of BRCA2 gene. The two loci of BRCA1∶5470_5477del8, BRCA1∶981_982delAT may be ancestor mutations in Chinese ovarian cancer patients, and 34 newly discovered pathogenic mutations in the BRCA gene, enriching the BRCA gene mutation spectrum in the Chinese population.

PMID:34823292 | DOI:10.3760/cma.j.cn112141-20210722-00395

Zhonghua Fu Chan Ke Za Zhi. 2021 Nov 25;56(11):760-766. doi: 10.3760/cma.j.cn112141-20210330-00164.

ABSTRACT

Objective: To explore the difference of high-risk factors between early-onset and late-onset pre-eclampsia, and to further understand high-risk factors of pre-eclampsia. Methods: Clinical data of pre-eclampsia pregnant women in 160 medical institutions in China in 2018 were retrospectively analyzed, including 8 031 cases of early-onset pre-eclampsia and 12 969 cases of late-onset pre-eclampsia. The proportion of high-risk factors, different body mass index (BMI) and age stratification between early-onset group and late-onset group were compared. Results: (1) Univariate analysis of high-risk factors: the proportions of high-risk factors in early-onset group and late-onset group were compared, and the differences were statistically significant (all P<0.05). Among them, the proportions of primipara and multiple pregnancy in early-onset group were lower than those in late-onset group, while the proportions of pregnant women with advanced age, irregular antenatal examination, obesity, family history of hypertension, pre-eclampsia, diabetes, kidney diseases, immune system diseases and assisted reproductive technology were higher than those in late-onset group. (2) Hierarchical analysis of BMI: the proportion of pregnant women with BMI≥24 kg/m² in early-onset group [48.2% (2 828/5 872) vs 45.5% (4 177/9 181), respectively; P=0.001] and the proportion of pregnant women with BMI ≥28 kg/m² in early-onset group [19.5% (1 143/5 872) vs 18.0% (1 656/9 181), respectively; P=0.028] were significantly higher than those in late-onset group. (3) Age stratification analysis: the proportion of pregnant women aged 35-39 years in the early-onset group [21.8% (1 748/8 023) vs 17.5% (2 110/12 068), respectively; P<0.01], the proportion of pregnant women 40-44 years old [6.8% (544/8 023) vs 5.4% (648/12 068), respectively; P<0.01], and the proportion of pregnant women ≥45 years old [0.7% (58/8 023) vs 0.5% (57/12 068), respectively; P=0.021] were significantly higher than those in the late-onset group. (4) Multivariate analysis: advanced age (≥35 years old), multiple pregnancy, irregular antenatal examination or transfer from other hospitals, family history of hypertension (including paternal, maternal and parental lines), previous history of pre-eclampsia, kidney diseases, immune system diseases (systemic lupus erythematosus, antiphospholipid antibody syndrome) and assisted reproductive technology pregnancy were the risk factors affecting the severity of pre-eclampsia (all P<0.05). Conclusion: Pregnant women with high risk factors such as age ≥35 years old, BMI ≥24 kg/m² before pregnancy, family history of hypertension, history of pre-eclampsia, chronic kidney diseases, immune diseases (mainly including systemic lupus erythematosus and antiphospholipid syndrome) and assisted reproductive technology are more likely to have early-onset pre-eclampsia.

PMID:34823288 | DOI:10.3760/cma.j.cn112141-20210330-00164

Zhonghua Yi Xue Za Zhi. 2021 Nov 30;101(44):3660-3663. doi: 10.3760/cma.j.cn112137-20210425-00986.

ABSTRACT

From July 2020 to June 2021, patients in Jiangyin Hospital Affiliated to Nantong University who met the enrollment criteria were treated with the fishhook-like device during the operation to suture the postoperative wound (group A). Patients with similar conditions and similar size wounds who were treated with a “purse-string suture” to suture the wounds were retrospectively analyzed as the control group (group B). Difference in the suture rate, adverse events, time required for suturing, and number of metal clips were compared between the two groups. The time required for suturing was (7.83±2.41) min in group A and (11.00±3.31) min in group B. The difference was statistically significant (P=0.002). The number of metal clamps used in group A averaged 7.17 pieces/case, and the number of metal clamps used in group B averaged 7.06 pieces/case. The difference was not statistically significant (P>0.05).The traction metal clip with the fishhook-like device is ingeniously designed and easy to operate. It has a good suture effect on the wound after endoscopic resection and effectively prevents postoperative adverse events.

PMID:34823284 | DOI:10.3760/cma.j.cn112137-20210425-00986

Zhonghua Yi Xue Za Zhi. 2021 Nov 30;101(44):3650-3654. doi: 10.3760/cma.j.cn112137-20210301-00523.

ABSTRACT

Objective: To investigate the clinical epidemiological characteristics of children with pertussis and the infection of their close contacts. Methods: The clinical data of children with pertussis and the etiological detection results of close contacts in Shenzhen Children’s Hospital from 2015 to 2018 were collected and descriptive epidemiological analysis was carried out. Results: The cases of pertussis from 2015 to 2018 were reported as 504, 425, 796 and 991 respectively, with a total of 2 716 cases. The most cases was in May in 2015 (72 cases), in August in 2016 and 2018 (68 cases and 144 cases), and in July in 2017 (115 cases). A total of 1 517 male and 1 199 female children were reported from 2015 to 2018, the ratio of male-to-female was 1.3∶1. The proportion of children under 1 year old was 79.7% (2 165/2 716), of which 74.4% (1 610/2 165) was less than 6 months old. Among the reported cases, 1 605 (59.1%) were treated as outpatients, aged M(Q₁,Q₃) 5 (3, 11) months, and 1 111 (40.9%) were hospitalized, aged 4 (2, 7) months. There were 876 outpatients (54.4%) and 734 inpatients (45.6%) under 6 months of age, 575 outpatients (63.5%) and 331 inpatients (36.5%) between 6 months and 2 years of age, and 154 outpatients (77.0%) and 46 inpatients (23.0%) with above 2 years old, respectively. There were statistically significant differences between the two treatment methods in different age groups (P<0.001). The average hospitalization time of inpatients under 6 months of age was (8.5±3.9) days, that of inpatients between 6 months and 2 years of age was (7.1±3.7) days, and that of inpatients above 2 years old was (6.8±3.3) days. The difference was statistically significant (P<0.001). The etiological test results of pertussis were collected from 617 close contacts of 270 reported cases, the positive detection rate of mothers was the highest (34.9%). Conclusions: From 2015 to 2018, the number of reported cases of pertussis in our hospital fluctuated and increased year by year, with high incidence in summer, mainly in children under 1 year old, and more males than females. Outpatient treatment was more than inpatient treatment, its age was obviously older than the latter. The younger the children, the higher the proportion of hospitalization, and with the increase of the age, the hospitalization time was obviously shortened. Among the close family contacts, the mother might be the main source of pertussis infection in children.

PMID:34823282 | DOI:10.3760/cma.j.cn112137-20210301-00523

Zhonghua Yi Xue Za Zhi. 2021 Nov 30;101(44):3643-3649. doi: 10.3760/cma.j.cn112137-20210413-00876.

ABSTRACT

Objective: To understand gender differences of cardiovascular risk factors in patients with acute myocardial infarction (AMI) in China. Methods: A total of 26 592 patients with AMI from 107 hospitals in 31 provinces in China from January 1, 2013 to September 30, 2014 were included. Self-designed questionnaire was used to collect patients’ age, gender, height, weight, type of AMI, medical history of cardiovascular and cerebrovascular diseases, medication history, lifestyle and AMI risk factors, including high blood pressure, diabetes, dyslipidemia, overweight and/or obesity, smoking history and family history of early onset coronary artery disease. A total of 24 394 patients with complete clinical data were included in the analysis, and gender differences in cardiovascular risk factors were analyzed in all and subgroups with different characteristics. Results: The patients were (62.2±13.8) years old, including 18 162 (74.5%) males and 18 209 (74.6%) ST-segment elevation myocardial infarction (STEMI). The age of male patients was (60.2±13.7) years, which was younger than that of female patients [(68.2±12.3) years]. The body mass index of male patients was (24.2±3.0) kg/m², which was higher than that of female patients [(23.8±3.4) kg/m²]. The proportions of patients with overweight and/or obesity, smoking history, dyslipidemia, family history of early onset coronary heart disease, fatty diet and history of AMI were 51.8%, 55.2%, 7.2%, 3.8%, 80.4% and 7.7%, which were higher than those of females (45.9%, 9.9%, 5.8%, 2.3%, 65.0% and 5.9%, respectively]. The proportions of hypertension, diabetes, physical inactivity and stroke history were 46.5%, 17.2%, 77.8% and 8.5%, respectively, which were lower than those in female patients [61.4% (3 829 cases), 24.8%, 81.7% and 11.1%, respectively] (all P values<0.05).The proportions of peripheral vascular diseases history in male and female patients were 0.6% and 0.7%, respectively, with no statistical significance in difference (P>0.05). Subgroup analysis showed inconsistent results comparing to analysis of all patients: there were no statistical significance in gender differences as for the proportion of dyslipidemia in the non-ST-segment elevation MI group, the proportion of family history of early onset coronary heart disease in the young and middle aged groups, the proportion of overweight and/or obesity, and the proportion of physical inactivity in the elderly group (all P values>0.05). Conclusions: There are gender differences in cardiovascular risk factors among Chinese patients with acute myocardial infarction. Hypertension and diabetes are more common in women, and overweight and/or obesity, fatty diet and smoking are more common in men.

PMID:34823281 | DOI:10.3760/cma.j.cn112137-20210413-00876

Stereotact Funct Neurosurg. 2021 Nov 25:1-9. doi: 10.1159/000519960. Online ahead of print.

ABSTRACT

BACKGROUND: Subthalamic nucleus deep brain stimulation (STN DBS) is an established therapy for Parkinson’s disease (PD) patients suffering from motor response fluctuations despite optimal medical treatment, or severe dopaminergic side effects. Despite careful clinical selection and surgical procedures, some patients do not benefit from STN DBS. Preoperative prediction models are suggested to better predict individual motor response after STN DBS. We validate a preregistered model, DBS-PREDICT, in an external multicenter validation cohort.

METHODS: DBS-PREDICT considered eleven, solely preoperative, clinical characteristics and applied a logistic regression to differentiate between weak and strong motor responders. Weak motor response was defined as no clinically relevant improvement on the Unified Parkinson’s Disease Rating Scale (UPDRS) II, III, or IV, 1 year after surgery, defined as, respectively, 3, 5, and 3 points or more. Lower UPDRS III and IV scores and higher age at disease onset contributed most to weak response predictions. Individual predictions were compared with actual clinical outcomes.

RESULTS: 322 PD patients treated with STN DBS from 6 different centers were included. DBS-PREDICT differentiated between weak and strong motor responders with an area under the receiver operator curve of 0.76 and an accuracy up to 77%.

CONCLUSION: Proving generalizability and feasibility of preoperative STN DBS outcome prediction in an external multicenter cohort is an important step in creating clinical impact in DBS with data-driven tools. Future prospective studies are required to overcome several inherent practical and statistical limitations of including clinical decision support systems in DBS care.

PMID:34823246 | DOI:10.1159/000519960

Zhonghua Yi Xue Za Zhi. 2021 Nov 30;101(44):3637-3642. doi: 10.3760/cma.j.cn112137-20210325-00742.

ABSTRACT

Objective: To investigate the clinical indicators for preoperative prediction of impacted ureteral stones and analyze the predictive value of ureteral wall area(UWA). Methods: A total of 197 patients who underwent ureteroscopic lithotripsy due to ureteral stones at our institution from January to December 2020 were retrospectively analyzed. Preoperative patient age, gender, body mass index (BMI), history of hypertension, diabetes mellitus, side of stone, location of stone, maximum diameter of stone, CT value of stone, C-reactive protein (CRP), creatinine, renal pelvis diameter, ureteral wall thickness and UWA were collected. Patients were divided into impacted and non-impacted groups according to whether the stones were impacted intraoperatively. Univariate analysis was used to compare the differences in each clinical indicator between the two groups, and multivariate logistic regression was performed to analyze the independent predictors of impacted stones for those with differences. The receiver operating characteristic (ROC) curve was used to analyze the predictive power of each independent predictor, and the Delong test was used to analyze whether the difference in the area under the curve (AUC) of each independent predictor was statistically significant. Results: All 197 patients successfully completed the operation, aged 51 (36, 56) years; 137 males and 60 females. According to the results of ureteroscopy, they were divided into 82 cases of impacted ureteral stones and 115 cases of non-impacted ureteral stones. Univariate analysis showed that there were significant differences in maximum stone diameter, stone CT value, renal pelvis diameter, ureteral wall thickness and ureteral wall area between the two groups (P<0.05); There was no significant difference in age, gender, BMI, history of hypertension, diabetes, stone side, location of stone, CRP and creatinine (P>0.05). Multivariate logistic regression analysis showed that stone CT value (P<0.01), ureteral wall thickness (P<0.001) and ureteral wall area were independent predictors of impacted ureteral stones (P<0.001). The ROC curve was used to compare the predictive efficacy of independent predictors of stone CT value, ureteral wall thickness and ureteral wall area. The area under the ureteral wall area curve was the largest (AUC = 0.901, 95%CI: 0.859-0.943, P<0.001), followed by ureteral wall thickness (AUC = 0.799, 95%CI: 0.736-0.862, P<0.001) and stone CT value (AUC = 0.700, 95%CI: 0.626-0.775, P<0.001). By Delong test, there were significant differences in AUC between ureteral wall area and stone CT value (Z=4.527, P<0.001) and ureteral wall thickness (Z=3.407, P<0.001). The best predictive value of ureteral wall area was 79.6 mm². The sensitivity and specificity of this critical value for predicting ureteral incarcerated calculi were 80.1% and 89.5%. Conclusions: The UWA, ureteral wall thickness as well as the CT value of stones were all independent predictors of impacted ureteral stones, and UWA had a better predictive value.

PMID:34823280 | DOI:10.3760/cma.j.cn112137-20210325-00742

Gait Posture. 2021 Oct 29;91:318-325. doi: 10.1016/j.gaitpost.2021.10.035. Online ahead of print.

ABSTRACT

BACKGROUND: Increased knee flexion at initial contact and in stance is a common problem for children with cerebral palsy. Surgical correction with percutaneous hamstring lengthening is an alternative to open hamstring lengthening; however, outcomes are less well documented, and there is concern about increasing anterior pelvic tilt. The purpose of this study was to evaluate the short-term outcomes of percutaneous hamstring lengthenings in children with cerebral palsy using comprehensive gait analysis techniques.

RESEARCH QUESTION: Does percutaneous hamstring lengthening improve knee function, and do knee and anterior pelvic tilt outcomes vary by GMFCS level?

METHODS: A convenience sample of 52 patients with both pre and post-surgical gait analyses was evaluated retrospectively for changes in gait function in terms of temporal-spatial parameters, kinematics and kinetics. Patients were divided into two GMFCS subgroups: GMFCS level I/II and III.

RESULTS: The percutaneous hamstring lengthening results in statistically significant improvements in knee function during gait with increased knee extension at initial contact (mean 32° SD 13° to mean 21° SD 11°, p = 0.000) and improved mean knee flexion in stance (mean 23° SD 12° to mean 16° SD 11°, p = 0.000) for the total study cohort. Beneficial changes were found for knee function in both GMFCS level subgroups; however, there was an increase in pelvic tilt pre to post-surgery in the GMFCS level III subgroup (mean 21° SD 8° to mean 26° SD 6°, p = 0.012) but not the GMFCS level I/II subgroup (mean 18° SD 7° to mean 20° SD 8°, p = 0.427).

SIGNIFICANCE: Percutaneous hamstring lengthening can improve knee function for all patients; however, the impact on anterior pelvic tilt varies by GMFCS level, with increasing anterior tilt for GMFCS level III only. This study highlights the importance of understanding differences in surgical outcomes by GMFCS level to better predict post-surgical function.

PMID:34823200 | DOI:10.1016/j.gaitpost.2021.10.035

Cytokine. 2021 Nov 22;150:155768. doi: 10.1016/j.cyto.2021.155768. Online ahead of print.

ABSTRACT

BACKGROUND/PURPOSE: Acute inflammation of the pancreas often leads to metabolic sequelae, the most common of which is new-onset prediabetes (and, ultimately, diabetes). However, there is a lack of studies on predictors of this sequela. The aim was to investigate whether cytokines/chemokines measured at baseline are predictive of new-onset prediabetes after acute pancreatitis (NOPAP).

METHODS: This was a prospective longitudinal cohort study (as part of the LACERTA project) that included 68 individuals with non-necrotising acute pancreatitis who had no diabetes mellitus. Of them, 17 individuals had prediabetes at baseline and during follow-up, 37 individuals had normoglycaemia at baseline and during follow-up, and 14 individuals had normoglycaemia at baseline and developed NOPAP during follow-up. A commercially available human cytokine/chemokine multiplex kit was used to measure a total of 28 analytes at baseline. Multinomial regression analyses were conducted to investigate the associations between the cytokines/chemokines and the three study groups.

RESULTS: Interleukin-1β and interferon γ significantly predicted progression to NOPAP with an odds ratio (95% confidence interval) of 1.097 (1.002, 1.201) and 1.094 (1.003, 1.192), respectively (after accounting for age, sex, body mass index, and aetiology of acute pancreatitis). None of the studied cytokines/chemokines showed statistically significant associations with the antecedent prediabetes group (after accounting for the above covariates).

CONCLUSION: Elevated levels of interleukin-1β and interferon γ in acute pancreatitis individuals with normoglycaemia at baseline may predict progression to NOPAP during follow-up.

PMID:34823207 | DOI:10.1016/j.cyto.2021.155768

Poult Sci. 2021 Oct 19;101(1):101543. doi: 10.1016/j.psj.2021.101543. Online ahead of print.

ABSTRACT

The current trends in the production of broiler chickens indicate the need to look for natural solutions that affect the efficiency of production and the quality of meat. The aim of the study was to evaluate the growth performance and quality of broiler chicken meat with the addition of halloysite in feed and litter. Two hundred Ross 308 were used and divided into 2 groups (10 replicates each). The control group (C) did not have any additive, while in the experimental group (H) 0.5% halloysite was used in feed and 0.500 kg/m² in peat litter. The production results and litter traits were checked. The presence of footpad dermatitis (FPD) was assessed. After 42 d, 20 birds were randomly selected and slaughtered. Dissection was performed. The slaughter yield and the percentage of carcass elements were calculated, including offal. Breast and leg muscles were analysed qualitatively (pH, colour, water-holding capacity, drip loss, chemical composition). In group H there were no changes to FPD, and in group C there were 6 cases of benign lesions and 1 with severe damage and scabs on the soles of the feet. Significantly higher preslaughter body weight was shown, as well as carcass and wings weight in group H. The H group had a higher pH₂₄ than the C group, as well as higher protein and water content, and lower intramuscular fat and salt, both in the breast and leg muscles. No significant differences were found in growth performance carcass, meat’ colour or water-holding capacity features. The litter with halloysite was characterized by a lower pH but without statistical confirmation. Addition of halloysite to feed and litter reduced the occurrence of skin lesions and had a positive effect on higher protein content and lower intramuscular fat in the breast and leg muscles. This demonstrates the potential for the practical use of halloysite in the production of broiler chickens, both as a feed and peat litter additive.

PMID:34823170 | DOI:10.1016/j.psj.2021.101543