ABSTRACT
Objectives@#. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. @*Methods@#. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. @*Results@#. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. @*Conclusion@#. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.
ABSTRACT
Objective:To analyze the MRI features of medulloblastoma (MB) in children, and screen out the key signs that can predict the risk of MB before surgery.Methods:Clinical and radiological data of 62 children with MB confirmed by pathology in Shenzhen Children′s Hospital from December 2012 to December 2021 were retrospectively analyzed. According to the diagnosis and treatment guidelines for children with MB (2021 edition), the patients were divided into standard risk group (43 cases) and high risk group (19 cases). MRI features of MB were observed and recorded, including tumor site, location of tumor center, tumor morphology, signal intensity of T 1WI, T 2WI and diffusion weighted imaging (DWI), enhancement pattern, cystic lesion size, location and number, peritumoral edema and hydrocephalus, and the maximum diameter of tumor was measured. The χ 2 test or Fisher exact probability method was used to compare the differences in age, gender and MRI signs between the two groups. The t test of two independent samples was used to compare the differences in the maximum diameter of tumors between the two groups. The indicators with statistically significant differences were included in binary logistic regression analysis to obtain independent influencing factors associated with the risk groups. The receiver operation characteristic curve was used to evaluate the diagnostic efficacy. Results:There were significant differences in age ( P=0.026), enhancement pattern ( P=0.018), cystic lesion size ( P=0.005), location ( P=0.011) and number ( P=0.003) between standard risk group and high risk group. There were no significant differences in gender, tumor site, location of tumor center, tumor morphology, signal intensity of T 1WI, T 2WI and DWI, peritumoral edema, hydrocephalus and maximum diameter of tumor between the two groups ( P>0.05). Binary logistic regression results showed the age (OR=0.207, 95%CI 0.040-0.983, P=0.042) and the number of cystic lesions (OR=0.215, 95%CI 0.073-0.630, P=0.005) were the protective factors for MB in high risk group, the enhancement pattern Ⅲ (OR=5.226, 95%CI 1.516-52.920, P=0.048) was the dangerous factor for MB in high risk group. The area under the curve of the combined diagnosis of high risk MB was 0.845 (95%CI 0.741-0.949). Conclusions:The age and MRI signs the pattern of tumor enhancement Ⅲ and the number of cystic lesion can be used to predict the risk grouping of MB preoperatively. When the child is younger and MB enhancement pattern is mainly peripheral enhancement without obvious cystic change, it may indicate high risk MB.
ABSTRACT
ObjectiveTo analyze drug resistance status and risk factors in elderly tuberculosis patients in Ninghai County of Zhejiang Province, and to provide basis for prevention and control of drug-resistant tuberculosis. MethodsClinical data were collected from 142 elderly tuberculosis patients (with positive sputum culture) who were diagnosed and treated in medical institutions in Ninghai from 2016 to 2020. The risk factors of drug resistance were analyzed by Chi-square test and logistic regression model. ResultsThe overall drug resistance rate was 33.80%, and the drug resistance rate in patients with recurrent pulmonary tuberculosis was significantly higher than that in patients with initial pulmonary tuberculosis, and the difference was statistically significant. Multivariate unconditional logisitic regression analysis showed that irregular medication and disease recurrence were independent risk factors for multidrug resistance in the elderly patients. ConclusionThe drug resistance rate in elderly tuberculosis patients in Ninghai is high. It is necessary to strengthen the management and supervision of tuberculosis in the community, and to carry out effective health education and visit for elderly patients, especially for newly treated patients, and to avoid treatment failure caused by irregular medication and interruption of treatment.
ABSTRACT
Objective:To investigate the changes of intestinal flora and its clinical significance in children with Helicobacter pylori (Hp)-positive duodenal ulcer before and after Hp eradication treatment. Methods:A total of 98 children with duodenal ulcer admitted to Ji′nan Second Maternal and Child Health Hospital from January 2018 to December 2020 were selected and divided into Hp infection group and Hp uninfected group according to whether they had Hp infection.Stools of Hp infection group were collected before treatment, treatment for 7 days, treatment for 14 days, and 30 days after treatment withdrawal for 16S rDNA sequencing.The independent samples t test was used to compare the detection of intestinal flora in the Hp infection group and the Hp uninfected group.Paired t test was used to compare the detection of intestinal flora in the Hp infection group before and after treatment.Nonparametric test was used to compare the bacterial diversity [diversity (Shannon, Simpson) index and richness (Chao 1) index] of Hp infection group and Hp uninfected group and the flora diversity of Hp infection group before and after treatment. Results:There was no significant difference in the detected numbers of Bifidobacterium [(5.92±1.85) lg copies/g feces vs.(6.58±2.01) lg copies/g feces], Lactobacillus [(4.89±1.35) lg copies/g feces vs.(4.47±1.59) lg copies/g feces], Bacteroides [(8.42±2.12) lg copies/g feces vs.(8.01±2.20) lg copies/g feces], Clostridium perfringens[(5.90±1.90) lg copies/g feces vs.(5.88±2.01) lg copies/g feces], Enterococcus[(5.41±1.27) lg copies/g feces vs.(5.02±1.48) lg copies/g feces], Enterobacter[(5.01±1.80) lg copies/g feces vs.(5.37±1.47) lg copies/g feces], and yeast [(5.90±1.85) lg copies/g feces vs.(5.88±2.01) lg copies /g feces] in the Hp infection group and the Hp uninfected group (all P>0.05). There was no statistically significant difference between the Shannon index (3.84±0.52 vs.3.90±0.45), Simpson index (0.16±0.04 vs.0.15±0.05), and Chao 1 index (178.52±40.22 vs.185.32±42.47) of the intestinal flora diversity between the Hp infection group and the Hp uninfected group (all P>0.05). Compared with before treatment, the number of Bifidobacterium, Lactobacillus and Bacteroides detected in the Hp infection group decreased at different times after treatment (all P<0.05). Compared with treatment for 7 days and treatment for 14 days, the number of Bifidobacterium [(4.54±1.78) lg copies/g feces vs.(4.20±1.22) lg copies/g feces vs.(5.21±1.55) lg copies/g feces], Lactobacillus [(4.01±1.20) lg copies/g feces vs.(3.89±1.32) lg copies/g feces vs.(4.43±1.10) lg copies/g feces], and Bacteroides [(6.78±1.88) lg copies/g feces vs.(6.55±1.90) lg copies/g feces vs.(7.68±2.00) lg copies/g feces] detected increased after 30 days of treatment (all P<0.05). There was no statistically significant difference in the number of Clostridium perfringens, Enterococcus, Enterobacter and yeast detected in Hp infection group at different times before and after treatment (all P>0.05). Compared with before treatment, the Shannon index and Chao 1 index at different time after treatment decreased, and the Simpson index increased (all P<0.05). Compared with treatment for 7 days and treatment for 14 days, the Shannon index (2.85±0.45 vs.2.57±0.48 vs.3.20±0.50) and Chao 1 index (148.45±32.33 vs.140.32±30.47 vs.160.42±38.42) increased, and Simpson index (0.25±0.06 vs.0.27±0.08 vs.0.19±0.05) decreased 30 days after treatment (all P<0.05). Conclusions:Hp infection has no significant effect on the intestinal flora of children with duodenal ulcer.Anti-Hp treatment can lead to imbalance of intestinal flora and decrease of intestinal flora diversity.The effect of a large number of antibiotics on intestinal flora should be considered in anti Hp treatment.
ABSTRACT
Objective:To investigate the clinical value of referral colposcopy in cervical high-risk human papillomavirus (HR-HPV) positive women in cervical cancer screening.Methods:Totally 2 445 cases, which were referred for colposcopic cervical biopsy for cervical HR-HPV positive in Karamay Central Hospital from January 2018 to November 2021 were collected. The status of cervical HR-HPV positive transferred colposcopy in different situations to identify high-grade squamous intraepithelial lesions (HSIL) and above (HISL+ ) was analyzed. The value of referral colposcopy in cervical HR-HPV positive women under different conditions was evaluated.Results:2 445 HR-HPV positive women were referred for colposcopic cervical biopsy, which confirmed 1 447 cases of negative for intraepithelial lesion or malignancy (NILM), 362 cases of low grade squamous intraepithelia lesion (LSIL), 510 cases of HSIL and 126 cases of squamous cell carcinoma (SCC); The complete coincidence rate between colposcopy diagnosis and pathological diagnosis was 67.08%(1 640/2 445), and the Kappa value of consistency test was 0.489. The sensitivity and specificity of colposcopy in the diagnosis of LSIL+ were 91.28% and 69.38%, and HSIL+ were 74.52% and 93.15%. The detection rates of HSIL+ in HPV16/18 positive and other 12 HPV positive patients with abnormal cervical liquid based cytology (TCT) were 64.78%(103/159) and 78.79%(364/462), respectively. The positive rates of HPV16/18 and 12 other HPV positive HSIL+ with normal TCT were 16.46%(82/498) and 6.56%(87/1 326), respectively. The rate of detecting HSIL+ in abnormal areas under colposcopy was 44.69%(534/1 195), and that in routine biopsy was 8.16%(102/1 250).Conclusions:Among the referred for colposcopic cases, the detection rate of HSIL+ was higher in cases with cervical HR-HPV positive and TCT abnormalities. Colposcopy has obvious value in identifying cervical lesions. The accurate diagnosis of cervical lesions is based on cervical biopsy under colposcopy.
ABSTRACT
@#Objective To analyze the risk factors for neurological complications after emergency surgery of acute type A aortic dissection. Methods The clinical data of 51 patients with acute Stanford type A aortic dissection who were admitted to Shanghai Delta Hospital from October 2018 to May 2019 were retrospectively analyzed. There were 37 males (72.5%) and 14 females (27.5%), aged 29-85 (55.1±12.3) years. The patients were divided into two groups, including a N1 group (n=12, patients with postoperative neurological insufficiency) and a N0 group (n=39, patients without postoperative neurological insufficiency). The clinical data of the two groups were compared and analyzed. Results There were statistical differences in age (62.6±11.2 years vs. 51.7±11.4 years, P=0.003), preoperative D-dimer (21.7±9.2 μg/L vs.10.8±10.7 μg/L, P=0.001), tracheal intubation time (78.7±104.0 min vs. 19.6±31.8 min, P=0.003), ICU stay time (204.1±154.8 min vs. 110.8±139.9 min, P=0.037) and preoperative coagulation factor activity R (4.0±1.5 vs. 5.1±1.6, P=0.022). Preoperative coagulation factor activity R was the independent risk factor for neurological insufficiency after emergency (OR=2.013, 95%CI 1.008-4.021, P=0.047). Conclusion For patients with pre-emergent acute aortic dissection who are older (over 62.6-64.5 years), with reduced coagulation factor R (less than 4.0), it is recommended to take more active brain protection measures to reduce the occurrence of postoperative neurological complications in patients with acute aortic dissection, and further improve the quality of life.
ABSTRACT
Objective:This paper discussed the law of drugs used in the treatment of damp-heat syndrome of hematochezia in ancient books of Traditional Chinese Medicine (TCM) in the Chinese Medical Classics. Methods:The medical records of Chinese medicine for treating blood convenience were retrieved in the Chinese Medical Classics (5th Edition), and the prescriptions of internal medicine were included in the prescription of internal medicine for the treatment of the damp and heat syndrome of the bowel of the blood, and the information of the origin, classification and composition of TCM were extracted into excel 2019. The database was established and the frequency analysis was carried out. The high frequency drugs were cluster analyzed by SPSS statistics 22.0, and the correlation degree between the Chinese medicine was analyzed by SPSS modeler 18.1. Results:A total of 143 prescriptions used to treat damp-heat syndrome of hematochezia were collected, with 196 TCM drugs. The high-frequency drugs were Angelicae Sinensis Radix, Sanguisorbae Radix, Coptidis Rhizoma, Moutan Cortex, Sophorae Flos, and Sophorae Fructus. The cluster analysis and association analysis showed that, the herbs with potential association rules were Angelicae Sinensis Radix and Moutan Cortex, and the core drug was Angelicae Sinensis Radix, and the core drug pairs were Coptidis Rhizoma- Scutellariae Radix, Sophorae Flos-Phellodendri Chinensis Cortex, Sophorae Flos-Schizonepetae Herba, Sophorae Fructus-Poria, Sophorae Fructus-Platycladi Cacumen, Schizonepetae Herba-Aurantii Fructus, Glycyrrhizae Radix et Rhizoma-Paeoniae Radix Alba. Conclusion:The ancients mostly used Huaijiao pill, Huaihua powder and Diyu powder to treat the damp-heat syndrome of hematochezia, and attached importance to the compatibility of drugs that can strengthen the spleen and remove dampness, replenish qi and blood, and promote blood circulation and remove blood stasis.
ABSTRACT
Objective:To evaluate the clinical feasibility and image quality of three-dimensional breath-hold gradient and spin-echo (3D BH-GRASE) sequence in magnetic resonance cholangiopancreatography (MRCP).Methods:In this prospective study, 59 patients with clinically suspected pancreaticobiliary duct disease performed MRCP with both 3D BH-GRASE and 3D respiration-triggered turbo spin-echo (3D RT-TSE) sequences on 3.0 T scanner in the Affiliated Zhangjiagang Hospital of Soochow University from November 2017 to December 2018. The overall image quality was scored independently by 3 experienced radiologists based on the visibility of different anatomical features of the pancreaticobiliary duct. For comparing the 2 sequences, the statistical difference in scan time was assessed with a paired t test; while subjective scores, signal-to-noise ratios (SNR), contrast ratios (CR) and contrast noise ratios (CNR) were compared with Wilcoxon signed rank test. Results:The scan time of 3D BH-GRASE sequence was 16.4 s while that of 3D RT-TSE was (258.6±42.2) s. Their difference was statistically significant ( t=44.073, P<0.001), with the scan time for 3D BH-GRASE shortened by 94%. The overall quality scores of 3D BH-GRASE images were better than those of 3D RT-TSE ( Z=-6.595, P<0.001). There was no statistical difference ( P>0.05) in the scores regarding the visibility of the upper, middle and lower parts of common bile duct and the first and second branches of left and right hepatic ducts. For visualizing the bottom, body, neck and duct of gallbladder, the 3D BH-GRASE sequence received a higher score than the 3D RT-TSE sequence ( P<0.001). For displaying the proximal, middle and distal segments of main pancreatic duct, the 3D RT-TSE sequence was scored higher than the 3D BH-GRASE sequence ( P<0.05). There was no significant difference of SNR between the two sequences ( Z=0.403, P=0.687), whereas CR and CNR of 3D RT-TSE MRCP were better than those of 3D BH-GRASE MRCP ( Z=6.215, P<0.001 and Z=3.046, P=0.002, respectively). Conclusion:Under the prerequisite of ensuring image quality, a proper use of 3D BH-GRASE sequence can significantly shorten the scan time and thus greatly improve the working efficiency of MRCP examination.
ABSTRACT
Objective:To discuss the effect of sarcopenia (Sa) on the prognosis of transjugular intrahepatic portosystemic shunt (TIPS) in patients with portal hypertension (PHT).Methods:Totally 131 PHT patients treated with TIPS were retrospectively collected from August 2013 to December 2017 in the First Affiliated Hospital of USTC, and were divided into the Sa group [maximum transverse diameter of the psoas major muscle/height (TPMT/H) ≤16.8 mm/m, n=60] and the control group (TPMT/H>16.8 mm/m, n=71). The patients were followed up with a median time of 42 months. The Kaplan-Meier method was used to calculate the incidence of hepatic encephalopathy, recurrence rate of PHT-related complications and survival rate of PHT patients after TIPS, and the differences were compared by Log-rank test. Results:The incidences of hepatic encephalopathy within 6 months after TIPS and severe hepatic encephalopathy requiring hospitalization in the Sa group [36.7% (95%CI 24.5%-48.8%) and 15.0% (95%CI 6.0%-24.0%)] were higher than those of the control group [15.7% (95%CI 7.3%-24.1%) and 2.8% (95%CI 0-6.7%)], with statistically significant differences (χ2=7.843, 16.442, P=0.005, 0.001). The 5-year overall recurrence rate of PHT-related complications of the Sa group after TIPS [15.8% (95%CI 6.4%-25.2%)] was higher than that of the control group [5.7% (95%CI 0.2%-11.2%)], with a statistically significant difference (χ2=4.431, P =0.035. The 1, 3 and 5-year survival rates in the Sa group were 88.3% (95%CI 80.3%-96.3%), 86.7% (95%CI 78.1%-95.3%) and 77.8% (95%CI 65.1%-90.5%) respectively, which were all lower than those of the control group [97.2% (95%CI 93.3%-100%), 95.8% (95%CI 91.1%-100.0%) and 93.7% (95%CI 87.6%-99.87%) respectively], and the difference was statistically significant (χ2=5.055, P=0.025). Conclusion:Sa has a higher incidence in PHT patients, which can increase the incidence of hepatic encephalopathy and recurrence rate of PHT-related complications, and can decrease the survival rate in PHT patients after TIPS. Hence, the Sa is an indicator of the poor prognosis in PHT patients with TIPS.
ABSTRACT
OBJECTIVE@#To investigate the clinical characteristics and prognostic risk factors of HLH children with central nervous system (CNS) involvement so as to provide more reference for further improving the prognosis of HLH children.@*METHODS@#The clinical data of 45 HLH children with CNS involvement treated in our hospital from January 2006 to October 2016 were collected and analyzed retrospectively. The clinical characteristics of HLH children with CNS involvement were recorded, moreover the possible factors influencing the prognosis of HLH children with CNS involvement were analyzed using univariate and multivariate analysis through the establishment of Cox risk ratio model.@*RESULTS@#Among 45 HLH children with CNS involvement, male was 19 cases and female was 26 cases. The median age of 4.0 years old (1.0-15.1). The detection showed that EBV found in 38 cases (84.44%), CMV infection in 1 case (2.22%), bacterial infection in 3 cases (6.67%), connection tissue disease in 1 case (2.22%) and indefinite etiology infection in 2 cases (4.44%). After lumbar puncture of 27 HLH children with CNS involvement, 10 cases (37.04%) showed cerebrospinal fluid abnormality. In addition, 22 cases showed the craniography abnormality. The follow-up results showed that the OS rate of 1 year was 46.67% (21/45), the OS rate of 3 years was 44.44% (20/45); the median survival time was 5.0 months. The OS analysis indicated that 1 years OS rate of diseased children with cerebrospinal fluid abnormality was significantly lower than that of diseased children with cerebrospinal fluid normality (10/45 vs 17/45) (P<0.05), and 1 years OS rate of diseased children who not received intrathecal injection was significantly lower that of diseased children who received intrathecal (10/45 vs 17/45) (P<0.05). The univariate analysis showed that the symptoms of nervous system, abnormal cerebrospinal fluid, absence of intrathecal injection and treatment schedule all were the risk factors affecting the prognosis of HLH children with CNS involvement (P<0.05). The multivariate analysis by Cox risk model showed that abnormal cerebrospinal fluid and absence of intrathecal injection were independent risk factors for of HLH children with CNS involvement (P<0.05).@*CONCLUSION@#The clinical prognosis of HLH children with CNS involvement is relatively poor, moreover some of HLH children with CNS involvement have neural sequelae. The cerebrospinal fluid abnormality and absence of intrathecal injection are independent risk factors leading to poor prognosis for HLH clildren with CNS involvement.
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Cytomegalovirus Infections , Nervous System , Prognosis , Retrospective Studies , Risk FactorsABSTRACT
OBJECTIVES@#To understand medical students' mental health, professional pride, and intention to work in the front-line during coronavirus disease 2019 (COVID-19) pandemic, and provide a reference for psychological intervention.@*METHODS@#We used the depression-anxiety-stress scale and self-designed questionnaire on professional pride, intention to work in the front-line and the extent of family support. Medical students from 4 medical schools in Fujian and Hunan were investigated. Their mental health status, professional pride and first-line work willingness with different characteristics were compared, and the influential factors for professional pride and first-line work willingness were analyzed.@*RESULTS@#A total of 266 valid questionnaires were collected. During the pandemic, there were significant differences in the proportion of depressed students among different college and universities, majors and stages (<0.05), and the professional pride was significantly different (<0.001). Medical students with different mental health status showed significant differences in professional pride (<0.01). Marriage, pressure and extent of family support were the influential factors for their professional pride (<0.05). The latter two were also influential factors for their intention to work in the front-line (<0.05).@*CONCLUSIONS@#During the pandemic, students from college and nursing have relatively better mental health and higher professional pride. The professional pride is low in medical students who married, with abnormal stress or low family support. The intention to work in front-line is decreased in students with abnormal stress or low family support.
Subject(s)
Humans , Betacoronavirus , China , Coronavirus Infections , Psychology , Family , Intention , Mental Health , Pandemics , Pneumonia, Viral , Psychology , Professionalism , Social Support , Stress, Psychological , Students, Medical , Psychology , Surveys and QuestionnairesABSTRACT
OBJECTIVE@#To choose the disease-causing gene in a Chinese pedigree with ankylosing spondylitis (AS) by whole-exome sequencing (WES), and provide theory basis for mechanism of disease.@*METHODS@#Clinical data of AS pedigree were collected, including 2 males, the age were 48 and 18 years old, the course of disease were 23 and 4 years. Whole blood genomic DNA of AS was extracted to perform whole exome sequencing, the results were compared with human databases, common variations which had been reported were wiped out, then non synonymous single nucleotide variants(SNVs) from the family members were combined, and candidate genes was selected initially.@*RESULTS@#Totally 80 G data was obtained from AS family with high quality.By comparing results between patient and normal subject, and filtering with number of biological database, the result showed heterozygous mutation of JAK2 gene 12 exon c.1709 A>G (p.Tyr570Cys) may be the potential disease-causing gene. The variant c.1151T>C of MUC3A gene may be one of the causes of intestinal symptoms in the family members.@*CONCLUSION@#It is feasible to find t candidate gene mutations of AS by Exon sequencing. The mutation c.1709 A>G in gene JAK2 identified by whole exome sequencing might be the pathogenic mutation in this AS pedigree.
Subject(s)
Humans , Male , Exome , Mucin-3 , Mutation , Pedigree , Spondylitis, Ankylosing , Exome SequencingABSTRACT
PURPOSE: Details of patients hospitalized for asthma exacerbation in mainland China are lacking. To improve disease control and reduce economic burden, a large sample survey among this patient population is indispensable. This study aimed to investigate the clinical characteristics and outcomes of such patients.METHODS: A retrospective study was conducted on patients hospitalized for asthma exacerbation in 29 hospitals of 29 regions in mainland China during the period 2013 to 2014. Demographic features, pre-admission conditions, exacerbation details, and outcomes were summarized. Risk factors for exacerbation severity were analyzed.RESULTS: There were 3,240 asthmatic patients included in this study (57.7% females, 42.3% males). Only 28.0% used daily controller medications; 1,287 (39.7%) patients were not currently on inhaled corticosteroids. Acute upper airway infection was the most common trigger of exacerbation (42.3%). Patients with severe to life-threatening exacerbation tended to have a longer disease course, a smoking history, and had comorbidities such as hypertension, chronic obstructive pulmonary disease (COPD), and food allergy. The multivariate analysis showed that smoking history, comorbidities of hypertension, COPD, and food allergy were independent risk factors for more severe exacerbation. The number of patients hospitalized for asthma exacerbation varied with seasons, peaking in March and September. Eight patients died during the study period (mortality 0.25%).CONCLUSIONS: Despite enhanced education on asthma self-management in China during recent years, few patients were using daily controller medications before the onset of their exacerbation, indicating that more educational efforts and considerations are needed. The findings of this study may improve our understanding of hospital admission for asthma exacerbation in mainland China and provide evidence for decision-making.
Subject(s)
Female , Humans , Adrenal Cortex Hormones , Asthma , China , Comorbidity , Disease Progression , Education , Food Hypersensitivity , Hospitalization , Hypertension , Inpatients , Medication Adherence , Mortality , Multivariate Analysis , Pulmonary Disease, Chronic Obstructive , Retrospective Studies , Risk Factors , Seasons , Self Care , Smoke , SmokingABSTRACT
Objective@#To evaluate the diagnostic value of three-dimensional endoanal ultrasound (3D-EAUS) for dyssynergic defecation (DD).@*Methods@#A case-control study was performed to retrospectively collectclinical data of 46 DD patients, including 16 males and 30 females with median age of 51 (20 to 70) years, at Nanjing Hospital of Chinese Medicine from February 2012 to April 2015.All the patients met the diagnostic criteria of functional constipation of Rome III. The paradoxical contraction of puborectalis (PR) muscle was found by both rectal examination and anorectal manometry. In the same period,45 healthy volunteers, including 22 males and 23 females with median age of 48 (21 to 72) years, without pelvic operation history, and with normal defecation in recent 6 months, were enrolled as the control group. No significant differences were observed in age and gender between two groups (both P>0.05). Cleveland constipation score of DD group was higher than that of control group [15(8-24) vs. 5(1-9), t=15.720, P<0.001]. 3D-EAUS examination was performed in all the subjects. Thickness and length of internal anal sphincter (IAS) (anterior side and posterior side), thickness of PR muscle, length of external anal sphincter (EAS) plus PR muscle, and puborectalis angle were measured and compared by using student t test between two groups. Correlation between these ultrasound parameters and anorectal manometry was examined by Pearson correlation analysis.@*Results@#Both male and female in the DD group had the greater thickness of IAS, as compared to those in the control group [male: (1.7±0.5) mm vs.(1.5±0.2) mm, t=2.516, P=0.016; female: (1.9±0.4) mm vs.(1.6±0.5) mm, t=2.034,P=0.047]. No significant differences between the two groups were observed with respect to the posterior length of IAS, length of EAS plus PR muscle, and thickness of PR muscle (all P>0.05). Compared to the control group, male in the DD group had smaller puborectalis angle during straining [(87.0±3.6)° vs. (90.5±1.8)°,t=3.502,P=0.002];female in the DD group had smaller puborectalis angle both in resting and straining [resting:(86.5±3.8)° vs. (90.1±2.1)°,t=4.047, P<0.001;straining: (84.1±4.5)° vs. (90.2±2.3)°, t=5.938, P<0.001]. Correlation analysis showed that anterior length of IAS was positively correlated with anal resting pressure (r=0.321, P=0.030); the length of EAS plus PR muscle was positively correlated with anal squeeze pressure (r=0.415, P=0.004). There were no correlations between the thickness and the posterior length of IAS and the anal resting pressure, or between the thickness of PR muscle and the anal squeeze pressure (all P>0.05).@*Conclusions@#The 3D-EAUS can accurately assess the morphological features of anal canal in DD patients. There is a certain positive correlation between 3D-EAUS and anorectal manometry.
ABSTRACT
Objective:The transcription factor IIH (TFIIH) helicases XPB and XPD are responsible for opening the DNA strand around the lesion site and endonuclease XPG cleaves the damaged DNA strand on the 3’ side during nucleotide excision repair (NER). Polymorphisms in these three genes that affect DNA repair capacity may contribute to susceptibility of lung cancer. In this study, our objective is to conduct a case-control study of 100 Chinese patients with lung cancer and 100 cancer-free age and sex matched controls to analyse associations between these SNPs and lung cancer susceptibility.Methods:In this hospital-based case-control study, we genotyped 7 SNPs of XPB, XPD and XPG using matrix assisted laser desorption ionisation-time of flight mass spectrometry method (MALDI-TOF) to explore the association with lung cancer risk. To estimate the relative risk of lung cancer associated with SNP genotype, odds ratios (OR) and 95.0% confidence intervals (95.0% CI) were obtained from unconditional multinomial logistic regression models without and with adjustment for potential confounders including age, gender, cigarette smoking and alcohol consumption.Results:The results showed that individuals carrying XPB rs4150434 GA or AA genotype (OR per GA genotype, 1.997; 95.0% CI: 1.031-3.871; P=0.039; OR per AA genotype, 2.435; 95.0% CI: 1.037-5.718; P=0.037), and this association was also find in nondrinkers (OR per GA genotype, 2.477; 95.0% CI: 1.128-5.440; P=0.022). Individuals carrying XPG rs2094258 AA genotype had an increased risk of lung cancer (OR per AA genotype, 3.020; 95.0% CI: 1.015-8.980; P=0.040) compared with individuals with the GG genotype, especially in nondrinkers (OR per AA genotype, 4.020; 95.0% CI: 1.211-13.339; P=0.017). In addition, we found that XPG rs17655 CG or GG genotype associated with decreased lung cancer risk in drinkers (OR per XPG rs17655 CG genotype, 0.238; 95.0% CI: 0.061~0.925; P=0.034; OR per XPG rs17655 GG genotype, 0.l39; 95.0% CI: 0.021-0.938; P=0.032). Haplotype analysis of all 7 SNPs was also conducted. We found that the haplotype of XPB (rs4150441, G>A; rs4150434, G>A) GA and the haplotype of XPG (rs2094258, G>A; rs4771436, T>G; rs17655, C>G) ATC had an increased association with lung cancer.Conclusions:These findings suggest an important role of XPB rs4150434 and XPG rs17655 polymorphisms for a biomarker for lung cancer risk among the Chinese population.
ABSTRACT
Objective: To understand the seasonal distribution of patient hospitalization due to asthma exacerbation in 7 geographic areas in China. Methods: This was a retrospective study which involved patients hospitalized for asthma exacerbation in 29 hospitals throughout 7 geographic areas in the mainland of China (northeast, north, central, east, south, northwest and southwest). The numbers of asthmatic patients and total inpatients of the respiratory department of each hospital were recorded. The monthly ratio of asthmatic patients to the total inpatients in every area was calculated and compared. Results: During the study period, 6 480 patients were admitted for asthma exacerbation, accounting for 3.14% of all the 206 135 patients admitted to the respiratory departments in the 29 hospitals. The ratio of asthmatic patients to total inpatients in the northeast area (5.61%) was highest, and the ratio in east area was lowest (1.97%). Statistical analysis showed that the difference among different areas was significant (P<0.000 1). In most areas, both the number and proportion of hospitalized asthmatic patients peaked in spring (February-April) and autumn (September-October). In the northeast area, east area and south area, the peaks in spring were more obvious, while in the north area and southwest area, the peaks in autumn were more obvious. In the northwest area the peaks occurred in winter (December-January) and summer (June-August), respectively. The differences in hospitalization due to asthma among different months were significant in the northeast, north, and southwest areas (P<0.005). Conclusion: The number of patients hospitalized for asthma exacerbation fluctuated with season in different areas in China. In most areas, more asthmatic patients were admitted to hospitals in spring and autumn.
Subject(s)
Humans , Asthma , China/epidemiology , Hospitalization/statistics & numerical data , Retrospective Studies , SeasonsABSTRACT
Behavioral adjustment plays an important role in the treatment and relapse of drug addiction. Nonetheless, few studies have examined behavioral adjustment and its plasticity following error commission in methamphetamine (METH) dependence, which is detrimental to human health. Thus, we investigated the behavioral adjustment performance following error commission in long-term METH addicts and how it varied with the application of repetitive transcranial magnetic stimulation (rTMS) of the left dorsolateral prefrontal cortex (DLPFC). Twenty-nine male long-term METH addicts (for > 3 years) were randomly assigned to high-frequency (10 Hz, n = 15) or sham (n = 14) rTMS of the left DLPFC during a two-choice oddball task. Twenty-six age-matched, healthy male adults participated in the two-choice oddball task pretest to establish normal performance for comparison. The results showed that 10 Hz rTMS over the left DLPFC significantly decreased the post-error slowing effect in response times of METH addicts. In addition, the 10 Hz rTMS intervention remarkably reduced the reaction times during post-error trials but not post-correct trials. While the 10 Hz rTMS group showed a more pronounced post-error slowing effect than the healthy participants during the pretest, the post-error slowing effect in the posttest of this sample was similar to that in the healthy participants. These results suggest that high-frequency rTMS over the left DLPFC is a useful protocol for the improvement of behavioral adjustment after error commission in long-term METH addicts.
Subject(s)
Adult , Humans , Male , Middle Aged , Young Adult , Adjustment Disorders , Therapeutics , Amphetamine-Related Disorders , Therapeutics , Case-Control Studies , Central Nervous System Stimulants , Choice Behavior , Physiology , Functional Laterality , Methamphetamine , Prefrontal Cortex , Physiology , Reaction Time , Physiology , Transcranial Magnetic Stimulation , MethodsABSTRACT
Objective To understand the seasonal distribution of patient hospitalization due to asthma exacerbation in 7 geographic areas in China.Methods This was a retrospective study which involved patients hospitalized for asthma exacerbation in 29 hospitals throughout 7 geographic areas in the mainland of China (northeast,north,central,east,south,northwest and southwest).The numbers of asthmatic patients and total inpatients of the respiratory department of each hospital were recorded.The monthly ratio of asthmatic patients to the total inpatients in every area was calculated and compared.Results During the study period,6 480 patients were admitted for asthma exacerbation,accounting for 3.14% of all the 206 135 patients admitted to the respiratory departments in the 29 hospitals.The ratio of asthmatic patients to total inpatients in the northeast area (5.61%) was highest,and the ratio in east area was lowest (1.97%).Statistical analysis showed that the difference among different areas was significant (P<0.000 1).In most areas,both the number and proportion of hospitalized asthmatic patients peaked in spring (February-April) and autumn (September-October).In the northeast area,east area and south area,the peaks in spring were more obvious,while in the north area and southwest area,the peaks in autumn were more obvious.In the northwest area the peaks occurred in winter (December-January) and summer (June-August),respectively.The differences in hospitalization due to asthma among different months were significant in the northeast,north,and southwest areas (P<0.005).Conclusion The number of patients hospitalized for asthma exacerbation fluctuated with season in different areas in China.In most areas,more asthmatic patients were admitted to hospitals in spring and autumn.
ABSTRACT
<p><b>OBJECTIVE</b>To observe the multiple symptom distribution, severity and quality of life of female pelvic floor dysfunction(FPFD) patients with constipation as chief complaint.</p><p><b>METHODS</b>One hundred FPFD patients with constipation as chief complaint from Speciaty Outpatient Clinic, Pelvic Floor Center of Nanjing Municipal Hospital of Traditional Chinese Medicine between September 2015 and February 2017 were retrospectively enrolled in this study. A comprehensive medical history questionnaire survey and systematical evaluation of severity and quality of life of these patients with constipation was conducted. Constipation scoring system scale (CSS) and patient-assessment of constipation quality of life questionnaire (PAC-QOL) were applied to evaluate the constipation. Other scales included: (1)pain visual analogue scale (VAS) and short form-36 questionnaire (SF-36): if combined with chronic functional anal rectal pain; (2) international consultation on incontinence questionnaire-short form (ICIQ-SF) and urinary incontinence quality of life questionnaires (I-QOL):if combined with urinary incontinence; (3) fecal incontinence severity score scale (Wexner-FIS) and fecal incontinence quality of life questionnaire (FI-QOL):if combined with fecal incontinence.</p><p><b>RESULTS</b>The mean age of 100 FPFD patients was (57.9±13.9) (24-89) years and the mean disease course was (7.0±8.2)(0.5-40.0) years. Seventy-five cases (75%) were complicated with anal pain, 70 with urinary incontinence, 37 with rectocele, 19 with nocturia, 11 with urinary frequency, 10 with defecation incontinence. Complication with only one symptom was observed in 20 cases (20%), and with two or more symptoms was observed in 80 cases (80%). Pelvic floor relaxation syndrome patients were dominant (58 cases, 58%). The severity of constipation (CSS) was 6-22 (13.89±3.79) points and the quality of life (PAC-QOL) was 45-133 (87.13±18.57) points in FPFD patients. VAS and SF-36 of patients combined with chronic functional anal rectal pain were 1-8 (3.0±1.9) points and 14.4-137.0(71.5±31.4) points respectively. ICIQ-SF and I-QOL of patients combined with urinary incontinence were 1-17 (6.1±3.6) points and 52-110 (90.0±15.8) points respectively. Wexner-FIS and FI-QOL of patients combined with fecal incontinence were 1-11 (4.4±3.0) points and 52-116 (83.4±23.3) points respectively.</p><p><b>CONCLUSIONS</b>The symptoms of FPFD patients with constipation as chief complaint are complex. They are mainly complicated with anal diseases, then urinary incontinence, and mostly with more than 2 symptoms. Their quality of life is poor.</p>
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Middle Aged , Young Adult , Constipation , Fecal Incontinence , Pelvic Floor , Pelvic Floor Disorders , Diagnosis , Quality of Life , Retrospective Studies , Surveys and QuestionnairesABSTRACT
Objective To observe the clinical efficacy of TCM foot bath in adjuvant treatment for early diabetic lower-extremity peripheral arterial disease (LEPAD). Methods Totally 90 cases with early diabetic LEPAD were divided into treatment group and control group by random number table method, with 45 cases in each group. Control group was given routine treatment, including health education, diet control, proper exercise, control of blood sugar, blood pressure and blood lipids, nutritional nerves, dilation of blood vessels. On the basis of control group, the treatment group was given TCM foot bath, soaking the lower limbs for 30 minutes each time, once a day, for 12 weeks. The clinical efficacy of the two groups was evaluated. The TCM syndrome score, maximum painless walking distance, temperature of the toe skin, diameter of the lower extremity arterial blood vessels, lower extremity arterial blood flow, ankle brachial index (ABI), blood pressure (BP), FBG, HbA1c, serum adiponectin, IL-6 and TNF-α were detected. The blood routine, liver and kidney function were detected and adverse reactions were recorded. Results The total effective rate was 82.22% (37/45) in the treatment group and 68.89% (31/45) in the control group. The treatment group was significantly better than the control group (Z=-2.099, P=0.036). Compared with before treatment, the levels of TCM syndromes, BP, FBG, HbA1c, serum IL-6 and TNF-α were significantly lower in both groups after treatment (P<0.05); serum adiponectin level increased after treatment (P<0.05); the maximum painless walking distance, the temperature of the toe skin, the diameter of the lower extremity arterial blood vessels, the lower extremity arterial blood flow and ABI were significantly improved. Compared with the control group, the scores of TCM syndromes in the treatment group were significantly lower (P<0.05); the levels of IL-6 and TNF-α in the treatment group were significantly lower than those in the control group (P<0.05); the maximum painless walking distance, the temperature of the toe skin, the diameter of the lower extremity arterial vessels, the lower extremity arterial blood flow and ABI, serum adiponectin level in the treatment group were significantly higher than those of the control group (P<0.05). Conclusion TCM foot bath in adjuvant treatment for early diabetic LEPAD is with obvious efficacy, and the mechanism may be related to improving the level of serum inflammatory cytokines to inhibit the inflammatory injury of blood vessels.