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1.
Zhonghua Bing Li Xue Za Zhi ; 53(3): 269-275, 2024 Mar 08.
Artigo em Chinês | MEDLINE | ID: mdl-38433055

RESUMO

Objective: To investigate the clinicopathological characteristics of gastrointestinal tumors with SWI/SNF complex deficiency and to perform a prognostic analysis of the patients. Methods: Gastrointestinal tumor cases with SWI/SNF complex deficiency expression diagnosed at the Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China from August 2021 to May 2023 were collected. Hematoxylin and eosin (HE) stained slides were reviewed, and immunohistochemical results were analyzed. Clinical and pathological information was recorded, and relevant literature was reviewed. Results: A total of 36 cases of gastrointestinal tumor with loss of SWI/SNF complex expression were identified, including 28 males (77.8%) and 8 females (22.2%). The average age at diagnosis was 70 years (range 48-85 years). Clinical staging showed 3 cases in stage Ⅰ (8.3%), 12 cases in stage Ⅱ (33.3%), 19 cases in stage Ⅲ (52.8%), and 2 cases in stage Ⅳ (5.6%). Complete or partial loss of ARID1A expression was observed in 20 cases (55.6%); complete or partial loss of SMARCA2 expression was observed in 24 cases (66.7%). SMARCA4 exhibited complete loss of expression in 4 cases (11.1%). Eleven cases (30.6%) showed concurrent complete or partial losses of both ARID1A and SMARCA2 expression. Twelve cases (33.3%) had mismatch repair protein deficiency, all of which were characterized by MLH1/PMS2 absence. Mismatch repair protein deficiency was associated with loss of ARID1A expression (P<0.01). Patients with mismatch repair protein deficiency were also associated with earlier clinical stage and a lower risk of lymph node metastasis compared to the ones with intact mismatch repair proteins (P<0.05). Conclusions: SWI/SNF complex deficiency in gastrointestinal tumors is associated with dedifferentiation and often accompanied by mismatch repair protein deficiency. Compared to the cases with intact mismatch repair proteins, the cases with defective mismatch repair protein have an earlier clinical stage and a lower risk of lymph node metastasis.


Assuntos
Neoplasias Gastrointestinais , Deficiência de Proteína , Feminino , Masculino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Metástase Linfática , China , Coloração e Rotulagem , DNA Helicases , Proteínas Nucleares , Fatores de Transcrição
2.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(2): 241-247, 2024 Feb 06.
Artigo em Chinês | MEDLINE | ID: mdl-38387957

RESUMO

Phage therapy is one of the most important tools for the treatment of infections with multi-drug resistant bacteria. Such phages are usually isolated from hospital effluents, however, no systematic study on the distribution of phages in hospital effluents has been conducted so far. The aim of this study was to isolate the corresponding phages of common pathogenic bacteria isolated in the clinic as hosts, so as to assess the ecological distribution of phages in hospital wastewater and to provide a reference for the isolation and application of phages of drug-resistant bacteria in the clinic. A cross-sectional study design was used in this study. The 125 pathogenic bacteria (belonging to 16 different strains) isolated from the clinical microbiology laboratory of Qilu Hospital of Shandong University from May to June 2023 were selected as the target strains, and the phages corresponding to these strains were isolated and purified from the hospital wastewater by using the double-layer plate sandwich method. At the same time, the distribution of pathogenic bacteria in the same batch of wastewater was analyzed with the help of mNGS sequencing technology, so as to preliminarily investigate the abundance correspondence between pathogenic bacteria and phages in wastewater. The results showed that a total of 56 phage strains were isolated from 125 clinical pathogens as hosts, corresponding to six pathogens, including Acinetobacter baumannii, Klebsiella pneumoniae, Escherichia coli, Staphylococcus aureus, Pseudomonas aeruginosa, and Stenotrophomonas maltophilia. All six pathogenic bacteria contained strains with different degrees of drug resistance, with a higher percentage of multi-drug resistant strains in A. baumannii, Escherichia coli and P. aeruginosa. The phage acquisition rates of these six pathogens were, in descending order, Escherichia coli (80%), Stenotrophomonas maltophilia (75%), Pseudomonas aeruginosa (70%), Klebsiella pneumoniae (66.67%), Acinetobacter baumannii (36.36%) and Staphylococcus aureus (12.5%). Preliminary mNGS sequencing results showed that the pathogenic bacteria with higher abundance in the batch of effluent were Enterococcus faecalis, Klebsiella pneumoniae, Escherichia coli, Enterococcus faecalis, Acinetobacter baumannii, Klebsiella aerogenes, Klebsiella michiganensis and Pseudomonas aeruginosa. In conclusion, phages of most common clinical Gram-negative pathogens were isolated from hospital wastewater with high isolation rates; however, phages of Gram-positive pathogens were isolated at lower rates, and only phages corresponding to Staphylococcus aureus were isolated in this study. The corresponding mNGS sequencing results showed that the distribution of Gram-negative pathogens in sewage may had a positive correlation with the ecological distribution of phages.


Assuntos
Bacteriófagos , Infecções Estafilocócicas , Humanos , Águas Residuárias , Farmacorresistência Bacteriana , Estudos Transversais , Staphylococcus aureus , Bactérias , Hospitais , Klebsiella pneumoniae , Escherichia coli , Antibacterianos/farmacologia , Testes de Sensibilidade Microbiana
4.
Zhonghua Gan Zang Bing Za Zhi ; 31(9): 961-968, 2023 Sep 20.
Artigo em Chinês | MEDLINE | ID: mdl-37872092

RESUMO

Objective: To compare the differences in the prevalence of mild micro-hepatic encephalopathy (MHE) among patients with cirrhosis by using the psychometric hepatic encephalopathy score (PHES) and the Stroop smartphone application (Encephal App) test. Methods: This prospective, multi-center, real-world study was initiated by the National Clinical Medical Research Center for Infectious Diseases and the Portal Hypertension Alliance and registered with International ClinicalTrials.gov (NCT05140837). 354 cases of cirrhosis were enrolled in 19 hospitals across the country. PHES (including digital connection tests A and B, digital symbol tests, trajectory drawing tests, and serial management tests) and the Stroop test were conducted in all of them. PHES was differentiated using standard diagnostic criteria established by the two studies in China and South Korea. The Stroop test was evaluated based on the criteria of the research and development team. The impact of different diagnostic standards or methods on the incidence of MHE in patients with cirrhosis was analyzed. Data between groups were differentiated using the t-test, Mann-Whitney U test, and χ (2) test. A kappa test was used to compare the consistency between groups. Results: After PHES, the prevalence of MHE among 354 cases of cirrhosis was 78.53% and 15.25%, respectively, based on Chinese research standards and Korean research normal value standards. However, the prevalence of MHE was 56.78% based on the Stroop test, and the differences in pairwise comparisons among the three groups were statistically significant (kappa = -0.064, P < 0.001). Stratified analysis revealed that the MHE prevalence in three groups of patients with Child-Pugh classes A, B, and C was 74.14%, 83.33%, and 88.24%, respectively, according to the normal value standards of Chinese researchers, while the MHE prevalence rates in three groups of patients with Child-Pugh classes A, B, and C were 8.29%, 23.53%, and 38.24%, respectively, according to the normal value standards of Korean researchers. Furthermore, the prevalence rates of MHE in the three groups of patients with Child-Pugh grades A, B, and C were 52.68%, 58.82%, and 73.53%, respectively, according to the Stroop test standard. However, among the results of each diagnostic standard, the prevalence of MHE showed an increasing trend with an increasing Child-Pugh grade. Further comparison demonstrated that the scores obtained by the number connection test A and the number symbol test were consistent according to the normal value standards of the two studies in China and South Korea (Z = -0.982, -1.702; P = 0.326, 0.089), while the other three sub-tests had significant differences (P < 0.001). Conclusion: The prevalence rate of MHE in the cirrhotic population is high, but the prevalence of MHE obtained by using different diagnostic criteria or methods varies greatly. Therefore, in line with the current changes in demographics and disease spectrum, it is necessary to enroll a larger sample size of a healthy population as a control. Moreover, the establishment of more reliable diagnostic scoring criteria will serve as a basis for obtaining accurate MHE incidence and formulating diagnosis and treatment strategies in cirrhotic populations.


Assuntos
Encefalopatia Hepática , Humanos , Encefalopatia Hepática/diagnóstico , Encefalopatia Hepática/epidemiologia , Encefalopatia Hepática/etiologia , Estudos Prospectivos , Índice de Gravidade de Doença , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Psicometria/métodos
7.
Artigo em Chinês | MEDLINE | ID: mdl-37667155

RESUMO

Objective: To analyze the change trends and risk factors of mesothelioma disease burden in Jiangsu Province from 1990 to 2019. Methods: In January 2022, using the 2019 Global Burden of Disease Study Data, the Joinpoint regression model was used to analyze the change trends of incidence, mortality, disable-adjusted life years (DALY) and premature mortality of mesothelioma residents in Jiangsu Province from 1990 to 2019, and the attribution level of mesothelioma risk factors was estimated by population attributing fraction. Results: The standardized incidence rates of mesothelioma in Jiangsu Province from 1990 to 2019 ranged from 0.07/10(5) to 0.09/10(5), with an average annual percentage change (AAPC) of -1.1% (t=-13.56, P<0.001). AAPCs in males and females were -0.3% (t=-2.18, P=0.029) and -1.6% (t=-11.39, P<0.001), respectively. The standardized mortality rates of mesothelioma ranged from 0.07/10(5) to 0.09/10(5), the AAPC was -1.1% (t=-12.23, P<0.001), AAPC was -1.6% (t=-14.09, P<0.001) for females, and there was no significant change in males (t=-1.83, P=0.068). The premature mortality was 0.004%-0.006%, the AAPC was -1.0% (t=-4.40, P<0.001), AAPC was -1.7% (t=-13.72, P<0.001) for females, and there was no significant change in males (t=-0.68, P=0.495). The standardized DALY rates ranged from 1.86/10(5) to 2.32/10(5), the AAPC was -0.9% (t=-11.08, P<0.001), AAPC was -1.6% (t=-11.05, P<0.001) for females, and there was no significant change in males (t=-0.95, P=0.343). Both the standardized years of life lost (YLL) rate and the standardized years lived with disability (YLD) rate showed a decreasing trend, and the AAPCs were -0.9% (t=-7.66, P<0.001) and -1.0% (t=-12.88, P<0.001), respectively. The proportion of YLL in DALY was more than 98.5%. Among the risk factors for mesothelioma burden attribution, the AAPC attributed to occupational asbestos exposure of DALY was 1.4% (t=3.43, P=0.001). The AAPC of DALY rate of standardized attribution was -1.7% (t=-12.11, P<0.001) . Conclusion: The overall burden of mesothelioma in Jiangsu Province is decreasing, occupational asbestos exposure is still the main risk factor of mesothelioma in Jiangsu Province, and early diagnosis and treatment should be strengthened.


Assuntos
Mesotelioma Maligno , Mesotelioma , Exposição Ocupacional , Feminino , Masculino , Humanos , Mesotelioma/epidemiologia , Fatores de Risco , Efeitos Psicossociais da Doença
8.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(6): 990-998, 2023 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-37380424

RESUMO

Objective: To evaluate HPV prevalence and type distribution in Chinese juvenile-onset recurrent respiratory papillomatosis (JoRRP) patients. Methods: We searched China National Knowledge Infrastructure, Wanfang data, China Biology Medicine disc, PubMed, Embase, and the Cochrane Library for studies assessing HPV infection of Chinese JoRRP patients up to 1 October, 2022. Two authors independently performed literature selection, data extraction, and quality assessment. HPV prevalence and HPV type-specific prevalence were pooled using a random effects model after Freeman-Tukey double arcsine transformation. All analyses were performed with R 4.1.3 software. Results: Nineteen publications investigating HPV infection of JoRRP patients were included in the final analyses. Of these, 16 studies reported HPV prevalence with a sample size of 1 528 patients, and 11 studies reported HPV6 prevalence and HPV11 prevalence with a sample size of 611 patients. All studies were graded as medium quality. In Chinese JoRRP patients, the synthesized HPV prevalence was 92.0% (95%CI:86.0%-96.6%, I2=87%), HPV6 prevalence was 42.4% (95%CI:34.9%-50.1%, I2=61%), and HPV11 prevalence was 72.3% (95%CI:59.0%-83.9%, I2=87%). All the pooled prevalence persisted in subgroup analyses stratified by publication year, sample size, and specimen type (P>0.05). There was no evidence of publication bias. In Chinese JoRRP patients, HPV16, 18, 31, 33, 52, and 58 prevalence was very low. Conclusions: Our findings suggested high HPV prevalence in Chinese JoRRP patients, and the most common HPV types were HPV6 and HPV11.


Assuntos
Infecções por Papillomavirus , Humanos , Infecções por Papillomavirus/epidemiologia , Papillomavirus Humano , População do Leste Asiático , Prevalência
9.
Zhonghua Xin Xue Guan Bing Za Zhi ; 51(5): 497-503, 2023 May 24.
Artigo em Chinês | MEDLINE | ID: mdl-37198121

RESUMO

Objective: To observe the association between clinical phenotypes of hypertrophic cardiomyopathy (HCM) patients and a rare calcium channel and regulatory gene variation (Ca2+ gene variation) and to compare clinical phenotypes of HCM patients with Ca2+ gene variation, a single sarcomere gene variation and without gene variation and to explore the influence of rare Ca2+ gene variation on the clinical phenotypes of HCM. Methods: Eight hundred forty-two non-related adult HCM patients diagnosed for the first time in Xijing Hospital from 2013 to 2019 were enrolled in this study. All patients underwent exon analyses of 96 hereditary cardiac disease-related genes. Patients with diabetes mellitus, coronary artery disease, post alcohol septal ablation or septal myectomy, and patients who carried sarcomere gene variation of uncertain significance or carried>1 sarcomere gene variation or carried>1 Ca2+ gene variation, with HCM pseudophenotype or carrier of ion channel gene variations other than Ca2+ based on the genetic test results were excluded. Patients were divided into gene negative group (no sarcomere or Ca2+ gene variants), sarcomere gene variation group (only 1 sarcomere gene variant) and Ca2+ gene variant group (only 1 Ca2+ gene variant). Baseline data, echocardiography and electrocardiogram data were collected for analysis. Results: A total of 346 patients were enrolled, including 170 patients without gene variation (gene negative group), 154 patients with a single sarcomere gene variation (sarcomere gene variation group) and 22 patients with a single rare Ca2+ gene variation (Ca2+ gene variation group). Compared with gene negative group, patients in Ca2+ gene variation group had higher blood pressure and higher percentage of family history of HCM and sudden cardiac death (P<0.05); echocardiographic results showed that patients in Ca2+ gene variation group had thicker ventricular septum ((23.5±5.8) mm vs. (22.3±5.7) mm, P<0.05); electrocardiographic results showed that patients in Ca2+ gene variation group had prolonged QT interval ((416.6±23.1) ms vs. (400.6±47.2) ms, P<0.05) and higher RV5+SV1 ((4.51±2.26) mv vs. (3.50±1.65) mv, P<0.05). Compared with sarcomere gene variation group, patients in Ca2+ gene variation group had later onset age and higher blood pressure (P<0.05); echocardiographic results showed that there was no significant difference in ventricular septal thickness between two groups; patients in Ca2+ gene variation group had lower percentage of left ventricular outflow tract pressure gradient>30 mmHg (1 mmHg=0.133 kPa, 22.8% vs. 48.1%, P<0.05) and the lower early diastolic peak velocity of the mitral valve inflow/early diastolic peak velocity of the mitral valve annulus (E/e') ratio ((13.0±2.5) vs. (15.9±4.2), P<0.05); patients in Ca2+ gene variation group had prolonged QT interval ((416.6±23.1) ms vs. (399.0±43.0) ms, P<0.05) and lower percentage of ST segment depression (9.1% vs. 40.3%, P<0.05). Conclusion: Compared with gene negative group, the clinical phenotype of HCM is more severe in patients with rare Ca2+ gene variation; compared with patients with sarcomere gene variation, the clinical phenotype of HCM is milder in patients with rare Ca2+ gene variation.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Cardiomiopatia Hipertrófica , Humanos , Procedimentos Cirúrgicos Cardíacos/métodos , Cardiomiopatia Hipertrófica/genética , Ecocardiografia , Eletrocardiografia , Fenótipo , Sarcômeros/genética , Adulto
10.
Zhonghua Yi Xue Za Zhi ; 103(21): 1643-1648, 2023 Jun 06.
Artigo em Chinês | MEDLINE | ID: mdl-37248065

RESUMO

Objective: To investigate the endoscopic ultrasonographic (EUS) characteristics of submucosal lesions of upper digestive tract suspected gastrointestinal stromal tumors (GIST) and their correlation with biological behaviors and pathological risk grade of the tumors. Methods: Retrospective cohort study. The EUS findings, follow-up review, surgical treatment and pathological data of patients with suspected GIST at the Gastrointestinal Endoscopy Center of Peking University People's Hospital from January 2013 to April 2021 were collected. All samples were divided into follow-up group and treatment group based on the pathological condition and the patient's treatment intention. According to whether or not the tumor was enlarged in EUS, the follow-up group was divided into non-enlarged group and enlarged group. Paired T-test was used to compare the lesion size before and after follow-up, and logistic regression was used to analyze the risk factors of tumor enlargement. According to the treatment methods, the treatment group was further divided into endoscopic treatment group and surgical treatment group. According to the pathological results and risk grade, the treatment group was further divided into the low-risk group and the medium-risk group. The risk factors of pathological malignant risk were analyzed by logistic regression, and the tumor diameter of patients with moderate or above pathological risk was predicted by receiver operation characteristic (ROC) curve. The relationship between the findings of EUS and the progression and pathological risk of GIST were also explored. Results: Seventy-three cases including 23 males and 50 females, with an age of 58 (30-88) years, were included in the follow-up group, with a mean lesion diameter of (1.21±0.49) cm before follow-up, median follow-up interval of 33.8 months, and a lesion diameter of (1.18±0.49) cm after follow-up. There was no significant difference (all P>0.05) in lesion diameter between before and after follow-up. There was no significant difference (all P>0.05) between tumor enlargement group (18 cases, 24.7%) and non-enlargement group (55 cases, 75.3%). One hundred and thirty-eight cases, including 52 males and 86 females, with an age of 60 (19-84) years, were enrolled in the treatment group, with a mean EUS estimated diameter of (2.55±1.35) cm and pathological diameters of (3.43±2.42) cm. Ninety-five (68.8%) of these cases were pathologically confirmed as GIST while 43 cases were diagnosed as other tumor types, including 37 benign tumors and 6 malignant tumors. In multifactorial logistic regression analysis, only the increase of tumor diameter [OR (95%CI): 1.800 (1.172-2.766), P=0.007] was a risk factor for pathological intermediate or higher risk. The optimal tumor diameter for predicting pathological intermediate or higher risk using ROC curve analysis was 2.75 cm, with a sensitivity 71.4%, specificity 79.0%, Youden index 0.5 and area under ROC curve 0.807 (95%CI: 0.703-0.909). Conclusions: EUS is essential for assessing the risk of progression and malignancy of submucosal lesions of upper digestive tract suspected GIST. For lesions of small diameter, the interval of follow-up shall be relatively extended while the indication of treatment could be partially waived.


Assuntos
Tumores do Estroma Gastrointestinal , Neoplasias Gástricas , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Endoscopia , Endossonografia/métodos , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/patologia , Tumores do Estroma Gastrointestinal/cirurgia , Estudos Retrospectivos , Fatores de Risco , Neoplasias Gástricas/cirurgia , Adulto
11.
Zhonghua Fu Chan Ke Za Zhi ; 58(4): 270-276, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37072295

RESUMO

Objective: To explore the effects of pregnancy complicated with moyamoya disease on maternal and fetal outcomes. Methods: The general clinical data and maternal and fetal outcomes of 20 pregnancies of 15 patients with moyamoya disease admitted to the First Affiliated Hospital of Zhengzhou University from January 2012 to October 2022 were retrospectively analyzed. Results: (1) General information: among the 20 pregnancies of 15 clearly diagnosed pregnant women complicated with moyamoya disease, 12 were diagnosed before pregnancy (60%, 12/20), 3 were diagnosed during pregnancy (15%, 3/20), and 5 were diagnosed during puerperal period (25%, 5/20). There were 7 cases of primipara (35%, 7/20) and 13 cases of multipara (65%, 13/20). (2) Pregnancy complications and maternal and infant outcomes: among the 20 pregnancies of 15 pregnant women with moyamoya disease, there were 9 pregnancy complications (45%, 9/20), including 5 gestational hypertension (25%, 5/20), 2 severe pre-eclampsia (10%, 2/20), 1 hyperlipidemia and 1 gestational diabetes mellitus (5%, 1/20). There were 2 case of drug abortion in the first trimester, 3 cases of labor induction in the second trimester, and 15 cases of delivery during the third trimester. All the 15 deliveries were cesarean section, of which 11 (11/15) were cesarean sections with medical indications, and 4 (4/15) were cesarean sections caused by personal factors. General anesthesia was used in 5 cases (5/15), epidural block anesthesia in 7 cases (7/15), and combined spinal and epidural anesthesia in 3 cases (3/15). The median gestational age of 15 neonates was 37.2 weeks (34.0 to 40.8 weeks), with 10 cases (10/15) were full-term infants, and 5 (5/15) were preterm infants (3 of which were associated with hypertensive disorder complicating pregnancy). The birth weight of 15 neonates was (2 853±454) g. Four neonates were admitted to neonatal intensive care unit (NICU), of which 3 cases were admitted to NICU due to premature delivery and 1 case was admitted to NICU due to neonatal jaundice. There was no neonatal asphyxia or death. All neonates were followed up from 4 months to 6 years after birth, and all grew well. (3) Neurological symptoms during pregnancy: 8 cases (40%, 8/20) had neurological symptoms during pregnancy, and 6 cases (30%, 6/20) had hemorrhagic symptoms, of which 3 cases occurred during the puerperal period (3/6). There were 2 cases of ischemic symptoms (10%, 2/20), all of which occurred during the puerperal period (2/2). (4) Analysis of factors related to the occurrence of cerebral hemorrhage: the incidence of cerebral hemorrhage in patients with moyamoya disease diagnosed before pregnancy was significantly lower than that in those without a clear diagnosis, and the incidence of cerebral hemorrhage in women with moyamoya disease was lower than that in primipara (all P<0.01). The incidence of cerebral hemorrhage in moyamoya patients without hypertensive disorder complicating pregrancy was lower than that in patients with hypertensive disorder complicating pregrancy, but the difference was not statistically significant (P>0.05). Conclusions: Pregnancy combined with moyamoya disease has adverse effects on maternal and infant outcomes, and the incidence of pregnancy complications increases. Cerebral hemorrhage occurres in prenatal and puperium, while cerebral ischemia occurres mainly in puperium.


Assuntos
Doença de Moyamoya , Complicações na Gravidez , Lactente , Gravidez , Recém-Nascido , Feminino , Humanos , Resultado da Gravidez , Cesárea , Gestantes , Recém-Nascido Prematuro , Doença de Moyamoya/complicações , Estudos Retrospectivos , Complicações na Gravidez/epidemiologia , Hemorragia Cerebral
12.
Artigo em Chinês | MEDLINE | ID: mdl-36748152

RESUMO

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.


Assuntos
Surdez , Fatores de Transcrição Forkhead , Perda Auditiva Neurossensorial , Perda Auditiva , Canais de Potássio Corretores do Fluxo de Internalização , Transportadores de Sulfato , Feminino , Humanos , Masculino , Alelos , Surdez/genética , Variações do Número de Cópias de DNA , Fatores de Transcrição Forkhead/genética , Genótipo , Perda Auditiva/genética , Perda Auditiva Neurossensorial/genética , Mutação , Fenótipo , Transportadores de Sulfato/genética , Aqueduto Vestibular , Recém-Nascido , Canais de Potássio Corretores do Fluxo de Internalização/genética
13.
Zhonghua Xin Xue Guan Bing Za Zhi ; 51(1): 32-37, 2023 Jan 24.
Artigo em Chinês | MEDLINE | ID: mdl-36655239

RESUMO

Objective: To explore the impact of non-valvular atrial fibrillation (AF) on the global cognitive function and executive function of patients without dementia, and to observe the differences between different types of AF. Methods: This research is a prospective and cross-sectional study. Non-dementia patients admitted to the department of neurology in the third people's hospital of Chengdu from July 2018 to July 2019 were included. Patients with non-valvular AF were included in the AF group and those with sinus rhythm were included in the control group. General clinical data and compared global cognitive function (mini-mental state examination (MMSE) and montreal cognitive assessment (MOCA)) and executive function (shape trails test (STT) and stroop color and word test (SCWT)) data were obtained and compared between 2 groups, and between different AF type groups. Results: A total of 386 participants were included, including 203 in AF group (52.6%), age was 68 (63, 71) years old, 119 were male (58.6%) and 183 in control group, age was 68 (63, 71) years old, 101 were male (55.2%). MMSE(28 (27, 29)) and MOCA (25 (22, 26)) scores were lower in AF group than those in control group (P<0.05), while STT-A time (84 (64, 140) s), STT-B time (248 (184, 351) s), STT time difference((159 (106, 245) s), SCWT-A time (50 (50, 50) s), SCWT-B time (55 (46, 63) s), SCWT-C time (100 (86, 120) s) and SCWT time interference (46 (34, 65) s) were higher than those in control group (P<0.05). Moreover, there was no difference in above indexes between paroxysmal AF and non-paroxysmal AF. Conclusion: The global cognitive function and executive function of patients with non-valvular AF are both decreased, while there is no obvious difference of the global cognitive function and executive function between paroxysmal AF and non-paroxysmal AF patients.


Assuntos
Fibrilação Atrial , Transtornos Cognitivos , Humanos , Masculino , Feminino , Fibrilação Atrial/diagnóstico , Função Executiva , Estudos Prospectivos , Estudos Transversais , Transtornos Cognitivos/diagnóstico , Cognição
14.
Zhonghua Fu Chan Ke Za Zhi ; 58(1): 44-48, 2023 Jan 25.
Artigo em Chinês | MEDLINE | ID: mdl-36720614

RESUMO

Objective: To investigate the safety of the Triple-P procedure in women complicated with severe placenta accreta spectrum disorders (PAS) and its influence on second pregnancy. Methods: From January 2015 to December 2017, the outcomes of the second pregnancy after the Triple-P procedure in 11 pregnant women complicated with PAS in the Third Affiliated Hospital of Guangzhou Medical University and the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed. Results: By December 2021, a total of 11 pregnant women who underwent the Triple-P procedure for PAS had a second pregnancy, with a median interval of 3 years (2-3 years). Of the 11 pregnant women, 7 delivered after 36 weeks of gestation. The median gestational age was 38 weeks, and 4 terminated within the first trimester. PAS recurred in 1 of 7 pregnant women (1/7) and was associated with placenta previa. All of the 7 pregnant women were delivered by cesarean section, with a median postpartum blood loss of 300 ml (200-450 ml), and only one pregnant woman required blood transfusion. None of the pregnant women were transferred to the intensive care unit, and there were no uterine rupture, bladder injury, puerperal infection, and neonatal adverse outcomes. Conclusion: Pregnant women who underwent the Triple-P procedure for severe PAS could be considered for second pregnancy with strictly management by an experienced multidisciplinary team, which may result in a good outcome.


Assuntos
Cesárea , Placenta Acreta , Gravidez , Recém-Nascido , Humanos , Feminino , Lactente , Placenta Acreta/cirurgia , Estudos Retrospectivos , Idade Gestacional , Hospitais
15.
Zhonghua Xue Ye Xue Za Zhi ; 44(12): 995-1000, 2023 Dec 14.
Artigo em Chinês | MEDLINE | ID: mdl-38503522

RESUMO

Objective: To explore the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in acute myeloid leukemia (AML) patients with BCR::ABL1 fusion. Methods: The clinical data of seven AML patients with BCR::ABL1 fusion from November 2012 to January 2022 were retrospectively analyzed, and their survival status was followed up. Results: The median age of patients at the time of diagnosis was 35 years. Four cases (57.1%) were diagnosed with high leukocyte counts. All cases were assayed as BCR::ABL1 positive and accompanied by four types of gene mutations (NPM1, RUNX1, ASXL1, PHF6) . Seven patients received tyrosine kinase inhibitor (TKI) combined with induction chemotherapy and bridged to allo-HSCT, and six patients received maintenance therapy with TKI. Before allo-HSCT, six patients achieved complete remission, and four patients achieved complete molecular remission (CMR) . After allo-HSCT, the three remaining cases also achieved CMR. All patients were in remission post-allo-HSCT. One case died of infection, and the remaining cases survived without relapse. The 3-year cumulative overall survival rate was (80.0±17.9) %. Conclusions: TKI combined with traditional chemotherapy could achieve a high response rate in AML patients with BCR::ABL1 fusion. In addition, allo-HSCT could enhance the molecular response rate. Maintenance therapy post-HSCT with TKI could improve prognosis.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Humanos , Adulto , Estudos Retrospectivos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Inibidores de Proteínas Quinases/uso terapêutico , Prognóstico
16.
Trop Biomed ; 40(4): 439-443, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38308831

RESUMO

The study of children who experienced with febrile seizures(FS) as a result of COVID-19 infection to gain insight into the clinical characteristics and prognosis of neurological damage, with the aim of improving prevention, diagnosis, and the treatment of neurological complications. This study investigated the clinical features of 53 children with FS who were admitted to Sanya Women and Children's Hospital from December 1, 2022, to January 31, 2023. The results indicated that the duration of convulsion in the case and control group was 7.90±8.91 and 2.67±1.23 (minutes) respectively. The analysis reveals that convulsions occurred within 24 hours in 39 cases (95.12%) of the case group, and in 8 cases (66.7%) of the control group. The difference was statistically significant (P<0.05). Additionally, the case group presented lower counts of WBC and NEU compared to the control group (p<0.05). The findings indicate that convulsions manifest at earlier stages of COVID-19 in children and the last longer than in the control group. It is therefore crucial for healthcare workers to remain attentive to patients with COVID-19 who report fever within 24 hours, and act promptly to implement preventive measures, particularly in cases of prolonged fever. It is essential to integrate the clinical manifestation, particularly convulsions, and the continuous numerical changes of inflammatory factors to assess COVID-19 linked with febrile seizures. In addition, larger-scale multi-center and systematic research are necessary to aid clinicians in monitoring neuropathological signals and biological targets, enabling more equitable diagnosis and treatment plans.


Assuntos
COVID-19 , Convulsões Febris , Criança , Humanos , Feminino , Lactente , Convulsões Febris/diagnóstico , Convulsões Febris/etiologia , Convulsões Febris/terapia , Febre , COVID-19/complicações , COVID-19/diagnóstico
17.
Zhonghua Bing Li Xue Za Zhi ; 51(6): 488-493, 2022 Jun 08.
Artigo em Chinês | MEDLINE | ID: mdl-35673718

RESUMO

Objective: To study clinicopathological features and differential diagnosis of IgG4-related diseases (IgG4-RD) in nasal cavity and paranasal sinuses. Methods: A retrospective analysis was performed in patients presenting initially with rhinosinusitis or a nasal mass, who also underwent nasal mucosa biopsy in Beijing Tongren Hospital Affiliated to Capital Medical University, from March 2016 to March 2021. According to the latest international classification diagnostic criteria of IgG4-RD published by the American Society of Rheumatology (ACR)/European Association for Rheumatology (EULAR) in 2019, 10 cases of nasal cavity and paranasal sinuses IgG4-RD were diagnosed and included in the study. The clinical features, histopathology and immunohistochemical expression of IgG and IgG4 were analyzed. Results: Among the 10 patients, five patients were male and five female. The age ranged from 30 to 71 years (median 52.7 years). Nasal polyp/nasal masses were seen in six cases, and lacrimal gland swelling was found in four cases. The serum IgG and IgG4 level was increased in four cases. Microscopically, all 10 cases showed intense lymphoplasmocytic infiltration and varying degrees of fibrosis in nasal or sinus mucosa, while four cases showed occlusive vasculitis. The number of IgG4 positive plasma cells in nasal mucosa was more than 10/high power field (HPF), with a mean of 67/HPF. The number of IgG4 positive plasma cells in the cases with severe fibrosis was significantly lower than in those without. The ratio of IgG4+/IgG+plasma cells was higher than 40% in six cases. Conclusions: IgG4-RD in nasal cavity and paranasal sinuses is a local manifestation of a systemic disease, while nasal cavity and paranasal sinuses are rarely involved by IgG4-RD. The diagnosis is based on clinical symptoms, imaging, IgG4-related serology and histopathologic scores. Histopathology has a core diagnostic value. IgG4 serology and imaging have important diagnostic values in the cases without biopsy.


Assuntos
Doença Relacionada a Imunoglobulina G4 , Seios Paranasais , Adulto , Idoso , Feminino , Fibrose , Humanos , Imunoglobulina G/metabolismo , Doença Relacionada a Imunoglobulina G4/diagnóstico , Doença Relacionada a Imunoglobulina G4/patologia , Masculino , Pessoa de Meia-Idade , Cavidade Nasal/metabolismo , Cavidade Nasal/patologia , Seios Paranasais/metabolismo , Seios Paranasais/patologia , Estudos Retrospectivos
20.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(2): 165-170, 2022 Feb 06.
Artigo em Chinês | MEDLINE | ID: mdl-35184446

RESUMO

Objective: To evaluate the performance of point-of-care testing for cervical cancer and precancerous lesions screening. Methods: In September 2020, 197 and 273 women were selected by using simple random sampling method from "self-sampling" cohort and "physician-sampling" cohort established in Xiangyuan county, Shanxi Province, China, respectively. Cervical exfoliated cells were collected by women themselves or gynecologists. All samples were detected by POCT and women with positive result were directly referred for colposcopy. Subsequently, all the samples were detected by careHPV and PCR test. Colposcopy and punch biopsy were performed for women with POCT negative but careHPV or PCR test positive at another visit. Using histopathological diagnosis as the gold standard, we calculated sensitivity, specificity and drew the receiver operating characteristic (ROC) curves. The accuracy of POCT was analyzed and compared to that of careHPV and conventional PCR test in cervical cancer and precancerous lesions screening. Results: The median (Q1 , Q3) age of 470 women was 51 (45, 57) years old. Based on self-sampling, the sensitivity and specificity of POCT for CIN2+ were 100.00% (95%CI: 56.56%-100.00%) and 28.95% (95%CI: 22.97%-35.76%), respectively. Compared with POCT, POCT HPV16/18 test had similar sensitivity and higher specificity of 89.47% (95%CI: 84.30%-93.08%). Self-sampling POCT HPV16/18 test had an AUC of 0.947 (95%CI:0.910-0.985), which was higher than that of careHPV and PCR test. Physician-sampling POCT test had 100.00% sensitivity (95%CI: 64.57%-100.00%) and 55.85% specificity (95%CI: 49.83%-61.70%) for detecting CIN2+. POCT HPV16/18 test had lower sensitivity (71.43%, 95%CI: 35.90%-91.76%) and higher specificity (92.45%, 95%CI: 88.63%-95.06%). POCT HPV16/18 test generally showed similar AUC on both self-collected samples and clinician-collected samples (0.947 vs 0.819, P=0.217). Conclusion: POCT HPV16/18 test is an effective method with relatively high sensitivity and specificity for cervical cancer screening.


Assuntos
Infecções por Papillomavirus , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Colposcopia , Detecção Precoce de Câncer/métodos , Feminino , Papillomavirus Humano 16/genética , Papillomavirus Humano 18 , Humanos , Programas de Rastreamento/métodos , Papillomaviridae , Infecções por Papillomavirus/diagnóstico , Testes Imediatos , Gravidez , Sensibilidade e Especificidade , Displasia do Colo do Útero/diagnóstico
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