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世界儿科杂志:英文版 2023年第8期19卷 715-726页

作者： Taynara Amancio de Lima Patricia Aparecida Zuanetti Marina Estima Neiva Nunes Ana Paula Andrade Hamad Department of Neurosciences and Behavioral Sciences Ribeirão Preto Medical SchoolUniversity of São PauloAv.Bandeirantes3900Monte AlegreRibeirão PretoSP14049-900Brazil University Hospital Ribeirão Preto Medical SchoolUniversity of São Paulo(HCFMRP-USP)Ribeirão PretoSPBrazil

Background Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and behavioral changes.Autism spectrum disorder(ASD)is a neurodevelopmental disorder characterized by deficits in communication and social interaction and by repetitive and restricted patterns of behavior,interests and activities.The aim of this review is to discuss the clinical features of the differential diagnoses of ASD that are prevalent among preschoolers,focusing on their similarities and disparities.Data sources The international medical literature search was conducted using PubMed and was revised regarding the subject using single and/or combined keywords as follows:differential diagnosis,preschoolers,diagnostic challenge,attention deficit hyperactivity disorder,intellectual disability,high abilities/giftedness,childhood apraxia of speech,social communication disorder,Landau–Kleffner syndrome,stereotyped movement disorder and excessive screen time.Results We describe conditions commonly found in clinical practice,taking ASD as a reference.We addressed converging and divergent aspects of behavior,cognition,communication,language,speech,socialization,and stereotypes for the diagnosis of ASD and other disorders identified as potential differential or comorbid diagnoses.Conclusions The ranking and characterization of symptoms appear to be essential for better understanding the underlying common ground between children with developmental disorders and children with ASD,thus properly diagnosing and directing social,professional,or medication interventions.This detailed discussion adds to the literature since,although ASD differential diagnoses are frequently mentioned and discussed in textbooks and journal articles,they rarely occupy a prominent place as we aimed herein.

关键词： Autism spectrum disorder clinical features Differential diagnosis Neurodevelopmental disorders Preschool

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families

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Cancer Biology & Medicine 2022年第6期19卷 850-870页

作者： Li Dong Hailian Zhang Huan Zhang Yingnan Ye Yanan Cheng Lijuan Li Lijuan Wei Lei Han Yandong Cao Shixia Li Xishan Hao Juntian Liu Jinpu Yu Cancer Molecular Diagnostics Core The Second Department of Breast Cancer Cancer Prevention Center Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin’s Clinical Research Center for CancerKey Laboratory of Breast Cancer Prevention and TherapyTianjin Medical UniversityMinistry of EducationTianjin 300060China Department of Oncology Tianjin Third Central HospitalTianjin Institute of Hepatobiliary DiseaseTianjin Key Laboratory of Artificial CellArtificial Cell Engineering Technology Research Center of Public Health MinistryTianjin 300170China Analyses Technology Co.Ltd. Beijing 102600China

Objective:Approximately 5%–10%of breast cancer(BC)patients display familial traits that are genetically inherited among the members of a family.The purpose of this study was to profile the germline mutations in 43 genes with different penetration rates and their correlations with phenotypic traits in Chinese familial BC families.Methods:Ion Torrent S5™-based next generation sequencing was conducted on 116 subjects from 27 Chinese familial BC families.Results:Eighty-one germline mutations in 27 BC predisposition genes were identified in 82.8%(96/116)of the cases.Among these,80.8%of the mutated genes were related to DNA damage repair.Fourteen possible disease-causing variants were identified in 13 of 27 BC families.Only 25.9%(7/27)of the BC families exhibited hereditary deficiency in BRCA1/2 genes,while 22.2%of the BC families exhibited defects in non-BRCA genes.In all,41.7%(40/96)of the mutation carriers had BRCA mutations,88.5%(85/96)had non-BRCA mutations,and 30.2%(29/96)had both BRCA and non-BRCA mutations.The BC patients with BRCA mutations had a higher risk of axillary lymph node metastases than those without mutations(P<0.05).However,the BC patients with non-BRCA mutations frequently had a higher occurrence of benign breast diseases than those without mutations(P<0.05).Conclusions:In addition to BRCA1/2,genetic variants in non-BRCA DNA repair genes might play significant roles in the development of familial/hereditary BC.Therefore,profiling of multiple BC predisposition genes should be more valuable for screening potential pathogenic germline mutations in Chinese familial/hereditary BC.

关键词： Familial breast cancer predisposition genes DNA damage repair genes clinical features

clinical features and surgical treatment of sacral schwannomas

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Clinical features and surgical treatment of sacral schwannom...

clinical features,epidemiologic characteristics and migration analysis of human adenovirus type 7 infections:the largest scale outbreak of acute respiratory disease in the military training bases,East China

2016年浙江省骨科学学术年会

作者： pan weibo lin nong liu meng huang xing yan xiaobo ye zhaoming 浙二医院

Methods 12 sacral schwannoma cases operated at Zhejiang University,School of Medicine,Second Affiliated Hospital,Department of Orthopaedics from 2012 to 2016 are investigated retrospectively and 11 patients were followed.All patients were assessed with plain radiography,computerized tomography(CT)and magnetic resonance imaging(MRI).All patients underwent an intralesional resection(piecemeal subtotal excision) and identify and preserve sacral nerve roots as much as possible.Results Two patients were male,nine were female and the average age was 49(ranging between 31 and63).Four patients were suffering from back and leg pain at the time of consultation,and seven had no obvious symptoms.Seven patients underwent preoperative biopsy and histological analysis and four patients had no such analysis.The surgeries were performed by the combination of an anterior and posterior approach in two patients,a posterior approach in eight patients,and an anterior approach in one patient.The averageblood loss during surgery was 1164 ml(ranging between 100 and 3000 ml).Residual tumors were not detected in all patients after surgery.Unfortunately,the postoperative complications occurred in three patients,namely bowel and bladder dysfunction(two patients) and cerebrospinal fluid leakage with secondary intracranial infection(one patient).Average follow-up period was 17.8 months(4-40 months).All patients were relieved from preoperative symptoms after the last follow-up.Conclusions Although sacral schwannomas are benign spinal tumors,they tend to spread into adjacent spaces and become larger than other spinal tumors due to the patients’ mild symptoms,the relative mobility of the roots and the wide diameter of the spinal canal surrounding them,making the surgical treatment particularly challenging.Therefore,we propose puncture biopsy guided by CT for predetermination of the nature of sacral tumors as it affects the treatment choice.To preserve the sacral nerve roots,we prefer intralesionary excision as a wise choice for most sacral schwan

关键词： sacral schwannomas clinical features surgical treatment

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Clinical features,epidemiologic characteristics and migratio...

Menstrual and Reproductive Characteristics of Patients with Primary Sjogren’s Syndrome:A 7-year Single-center Retrospective Study

2015浙江省检验医学学术年会

作者：成军 Xujian Xu Guozheng Wang Yuzhu Dai Changgui Sun Department of clinical Laboratory Science The 117th Hospital of PLA

Objectives To understand the clinical features,epidemiologic characteristics of adenovirus infection that broke out in the military training bases in Zhejiang province and Shanghai,and the HAdV7 geographic dispersal in the human populations worldwide.Methods Throat swabs and serum samples of the inpatients were collected for determination of the causative pathogen of this respiratory disease infection.Routine blood test,CRP,ESR,blood ADV-IgM,and ADVquantitative PCR were performed,and the hexon genes of isolates were sequenced for the further homologous analysis to identify the serotypes of HAdV.Besides,Sequence data set of HAdV7 hexon genes across the world were constructed for the phylogenetic and phylogeographic analyses of HAdV7 using the PAUP*4.0 and MigraPhyla 1.0 b.Results During the outbreak,a total of 342 trainees suffered from ARDall of whom were males aged 17-23 years,and 119 were hospitalized.The main clinical manifestations among the inpatients were fever(71.4%),cough(66.4%),expectoration(60.5%),and approximately 48.7%patients failed to pneumonia among which the most infectious form were unilateral.High level of CRP(72.3%) was the characteristic laboratory finding,positive ADV DNA was detected in allthroat swab specimens of the inpatients,the serotype of HAdV was identified as HAdV7.HAdV7 in this outbreak was statistically proven lately dispersed from Shaanxi province(2011),and originated from California(1953).Conclusion Phylogenetic and phylogeographic analyses of HAdV7 globally play an important role in learning the human adenovirus world and create a foundation towards exploitation of the more effective HAdV7 molecular diagnosis reagents and the relevant vaccinates,also offered valuable accordance for HAdV7 prevention and control strategy.

关键词： Human adenovirus 7 epidemiology clinical features migration analysis

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Current Medical Science 2023年第1期43卷 139-145页

作者： Ying-zi ZHU Ji-xin ZHONG Ling-li DONG Department of Rheumatology and Immunology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

Objective Primary Sjogren’s syndrome(pSS)is a systemic autoimmune disease that mainly affects the exocrine gland,especially in women.Currently,the results of studies on the menstruation or fertility of pSS patients remain controversial.This study aimed to examine the menstrual and reproductive characteristics of pSS patients.Methods clinical data of 449 pSS patients who were admitted to Tongji Hospital in Hubei,China,from January 2015 to November 2021 were obtained and their menstrual and reproductive information analyzed.In addition,the clinical features of pSS patients with premenopausal or postmenopausal onset were compared.Results The spontaneous abortion rate of pSS patients was not higher than the reported rate of the general population and that the age of menarche,menstrual cycle,and menstrual period of pSS patients did not significantly differ from those reported in the general population;however,early menopause seemed to be more common in pSS patients.Skin involvement(27.96%vs.15.00%,P=0.005)and hyperglobulinemia(10.64%vs.4.16%,P=0.033)were more common in patients with premenopausal pSS onset,but patients with postmenopausal onset had a significantly greater incidence of interstitial lung disease(32.50%vs.17.02%,P=0.0004).Also,erythropenia(47.00%vs.31.25%,P=0.002),hypoalbuminemia(19.49%vs.8.22%,P=0.0009),and prevalence of high hypersensitive C-reactive protein levels(21.67%vs.10.94%,P=0.005)were more common in pSS patients with postmenopausal onset.Notably,the rate of abnormal pregnancy was significantly greater in patients with premenopausal onset(9.72%vs.2.50%,P=0.011).Conclusion Patients with pSS onset before or after menopause may have different risks in pulmonary involvement and laboratory manifestations.

关键词： primary Sjogren's syndrome menstruation fertility clinical features

Development of a machine learning-based model for predicting risk of early postoperative recurrence of hepatocellular carcinoma

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World Journal of Gastroenterology 2023年第43期29卷 5804-5817页

作者： Yu-Bo Zhang Gang Yang Yang Bu Peng Lei Wei Zhang Dan-Yang Zhang Department of Hepatobiliary Surgery General Hospital of Ningxia Medical UniversityYinchuan 750003Ningxia Hui Autonomous RegionChina Department of Hepatobiliary Surgery People's Hospital of Ningxia Hui Autonomous RegionYinchuan 750003Ningxia Hui Autonomous RegionChina

BACKGROUND Surgical resection is the primary treatment for hepatocellular carcinoma(HCC).However,studies indicate that nearly 70%of patients experience HCC recurrence within five years following hepatectomy.The earlier the recurrence,the worse the prognosis.Current studies on postoperative recurrence primarily rely on postoperative pathology and patient clinical data,which are lagging.Hence,developing a new pre-operative prediction model for postoperative recurrence is crucial for guiding individualized treatment of HCC patients and enhancing their prognosis.AIM To identify key variables in pre-operative clinical and imaging data using machine learning algorithms to construct multiple risk prediction models for early postoperative recurrence of HCC.METHODS The demographic and clinical data of 371 HCC patients were collected for this retrospective study.These data were randomly divided into training and test sets at a ratio of 8:2.The training set was analyzed,and key feature variables with predictive value for early HCC recurrence were selected to construct six different machine learning prediction models.Each model was evaluated,and the bestperforming model was selected for interpreting the importance of each variable.Finally,an online calculator based on the model was generated for daily clinical practice.RESULTS Following machine learning analysis,eight key feature variables(age,intratumoral arteries,alpha-fetoprotein,preoperative blood glucose,number of tumors,glucose-to-lymphocyte ratio,liver cirrhosis,and pre-operative platelets)were selected to construct six different prediction models.The XGBoost model outperformed other models,with the area under the receiver operating characteristic curve in the training,validation,and test datasets being 0.993(95%confidence interval:0.982-1.000),0.734(0.601-0.867),and 0.706(0.585-0.827),respectively.Calibration curve and decision curve analysis indicated that the XGBoost model also had good predictive performance and clinical application value.CONCLUSION The XGBoost mo

关键词： Machine learning Hepatocellular carcinoma Early recurrence Risk prediction models Imaging features clinical features

Oral and maxillofacial pain as the first sign of metastasis of an occult primary tumour:A fifteen-year retrospective study

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World Journal of clinical Cases 2022年第14期10卷 4436-4445页

作者： Shan Shan Shu Liu Zhen-Yu Yang Tie-Mei Wang Zi-Tong Lin Ying-Lian Feng Seyiti Pakezhati Xiao-Feng Huang Lei Zhang Guo-Wen Sun Department of Dentomaxillofacial Radiology The Affiliated Stomatology Hospital of Medical SchoolNanjing UniversityNanjing 210008Jiangsu ProvinceChina Department of Oral Pathology The Affiliated Stomatology Hospital of Medical SchoolNanjing UniversityNanjing 210008Jiangsu ProvinceChina Department of Oral and Maxillofacial Surgery The Affiliated Stomatology Hospital of Medical SchoolNanjing UniversityNanjing 210008Jiangsu ProvinceChina

BACKGROUND Metastatic adenocarcinoma of the jaw(MAJ)is a rare disease that accounts for 1%-3%of all oral and maxillofacial malignant tumours.Oral and maxillofacial pain may be the first symptom of metastatic spread of an occult primary tumour.Therefore,early identification of oral and maxillofacial pain by dental professionals is critical.AIM To explore the clinical and computerized tomography(CT)features of MAJ with oral and maxillofacial pain as the first symptom.METHODS The medical records of all patients who were treated in our hospital between January 2006 and February 2020,and diagnosed with MAJ with oral and maxillofacial pain as the first symptom,were reviewed retrospectively.clinical data were collected on age,sex,medical history,clinical manifestations,site of metastasis,and site of the primary lesion.CT features were analysed in detail,and a radiological classification scheme comprising five types:Osteolytic,osteoblastic,mixed,cystic,and alveolar bone resorption was proposed.RESULTS The primary sites of MAJ were the lungs(n=6),liver(n=4),kidneys(n=2),prostate(n=1),and gastric cardia(n=1).Five tumours were classified as the osteolytic type,all with a permeative margin(100%,Pclinical and CT features.Oral and maxillofacial pain may be the first sign of a primary tumour affecting other sites.

关键词： Metastasis Adenocarcinoma Oral and maxillofacial clinical features Computed tomography Diagnosis

Primary renal small cell carcinoma:A case report

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World Journal of clinical Cases 2022年第17期10卷 5884-5892页

作者： Kun Xie Xi-Ya Li Bang-Jie Liao Si-Cheng Wu Wei-Min Chen Department of Urology The First Affiliated Hospital of Nanchang UniversityNanchang 330036Jiangxi ProvinceChina

BACKGROUND Small cell carcinoma(SCC)is a malignant tumour that is frequently accompanied by extensive metastasis.Primary renal SCC has typical characteristics related to SCC and is extremely rare,with no uniform treatment standard.clinical treatment is mainly based on the literature.Here we report the diagnosis and treatment of an interesting case of primary renal SCC.CASE SUMMARY We report a tortuous course of treatment for a 68-year-old man.Four years before diagnosis,the patient developed continuous gross haematuria,during which he underwent several ureteral biopsies,ureteral stricture relief,and urine exfoliated cell examinations;however,SCC was not confirmed.One month before radical resection of the renal pelvic carcinoma,the severe haematuria recurred.Computed tomography revealed transitional cell carcinoma in the right kidney and right upper ureter.A preoperative examination exluded the possibility of a pulmonary origin of the tumour,and primary renal SCC was diagnosed.The postoperative pathology findings were suggestive of SCC.The patient was treated with combined chemotherapy but died of tumour progression at 7 mo postoperative.CONCLUSION Our patient's disease onset in the context of a succession of regular testing and the fact that it occurred so quickly with perirenal encroachment immediately after diagnosis reveals the cruel and unforgiving side of the disease.Furthermore,patients with poor comprehensive treatment results require new treatment regimens.

关键词： Kidney Small cell carcinoma clinical features Diagnosis Treatment Case report

Primary malignant tumours and malignant transformation of cysts in the retrorectal space:MRI diagnosis and treatment outcomes

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Gastroenterology Report 2022年第1期10卷 460-467页

作者： Jing Gong Yumeng Xu Yan Zhang Lichao Qiao Haixia Xu Ping Zhu Bolin Yang Department of Colorectal Surgery Jiangsu Province Hospital of Chinese MedicineAffiliated Hospital of Nanjing University of Chinese MedicineNanjingJiangsuP.R.China First clinical Medical College Nanjing University of Chinese MedicineNanjingJiangsuP.R.China

Background:There are no clear guidelines for the diagnosis and treatment of malignant retrorectal tumours.The purpose of this study was to increase preoperative diagnostic knowledge and to describe the outcomes of treatment for these patients.Methods:This retrospective study was conducted on patients who underwent complete retrorectal tumour resection between May 2006 and July 2018,and had confirmed post-operative pathology reports.Demographic and clinical data(including imaging,perioperative,pathological,and prognostic data)were collected and analysed.Results:Malignant lesions were identified in 15(9[60%],female)patients.The median age of the patients was 59 years(range,34–72 years).Primary malignant tumours were identified in seven patients with solid tumours,in which gastrointestinal stromal tumours accounted for 71.4%(five of seven)and the remainder were chordoma or mucinous adenocarcinoma.Malignant transformation of cysts occurred in another eight patients with heterogeneous tumours,while histopathological features were present in 75%(six of eight)of patients with mucinous adenocarcinoma,and the remainder were squamouscell carcinoma or neuroendocrine tumour(Grade 2).The malignant characteristics of the solid portions observed using magnetic resonance imaging(MRI)were as follows:the cyst wall of the tumour was irregularly thickened;the surface was convex or lobed;the solid tumour had no capsule,or the capsule was destroyed;and the surface had a gyrus-like morphology.At a median follow-up time of 52 months(range,13–100 months),the overall recurrence-free survival rate was 40.0%and the survival rate was 46.7%.Conclusion:Some MRI features can be used to distinguish malignant retrorectal tumours from benign retrorectal tumours.The survival rate of patients with malignant retrorectal tumours is poor.

关键词： retrorectal tumour malignant transformation clinical features treatment prognosis