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clinical manifestations,diagnosis and long-term prognosis of adult autoimmune enteropathy:Experience from Peking Union Medical College Hospital

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World Journal of Gastroenterology 2024年第19期30卷 2523-2537页

作者： Mu-Han Li Ge-Chong Ruan Wei-Xun Zhou Xiao-Qing Li Sheng-Yu Zhang Yang Chen Xiao-Yin Bai Hong Yang Yu-Jie Zhang Peng-Yu Zhao Ji Li Jing-Nan Li Department of Gastroenterology Chinese Academy of Medical Sciences&Peking Union Medical College HospitalBeijing 100730China Department of Pathology Chinese Academy of Medical Scinences&Peking Union Medical College HospitalBeijing 100730China Department of Pathology Tianjin First Central HospitalNankai UniversityTianjin 300192China Affairs Office Chinese Academy of Medical Sciences&Peking Union Medical College Hospital(West campus)Beijing 100032China

BACKGROUND Autoimmune enteropathy(AIE)is a rare disease whose diagnosis and long-term prognosis remain challenging,especially for adult AIE patients.AIM To improve overall understanding of this disease’s diagnosis and prognosis.METHODS We retrospectively analyzed the clinical,endoscopic and histopathological characteristics and prognoses of 16 adult AIE patients in our tertiary medical center between 2011 and 2023,whose diagnosis was based on the 2007 diagnostic criteria.RESULTS Diarrhea in AIE patients was characterized by secretory diarrhea.The common endoscopic manifestations were edema,villous blunting and mucosal hyperemia in the duodenum and ileum.Villous blunting(100%),deep crypt lymphocytic infiltration(67%),apoptotic bodies(50%),and mild intraepithelial lymphocytosis(69%)were observed in the duodenal biopsies.Moreover,there were other remarkable abnormalities,including reduced or absent goblet cells(duodenum 94%,ileum 62%),reduced or absent Paneth cells(duodenum 94%,ileum 69%)and neutrophil infiltration(duodenum 100%,ileum 69%).Our patients also fulfilled the 2018 diagnostic criteria but did not match the 2022 diagnostic criteria due to undetectable anti-enterocyte antibodies.All patients received glucocorticoid therapy as the initial medication,of which 14/16 patients achieved a clinical response in 5(IQR:3-20)days.Immunosuppressants were administered to 9 patients with indications of steroid dependence(6/9),steroid refractory status(2/9),or intensified maintenance medication(1/9).During the median of 20.5 months of followup,2 patients died from multiple organ failure,and 1 was diagnosed with non-Hodgkin’s lymphoma.The cumulative relapse-free survival rates were 62.5%,55.6%and 37.0%at 6 months,12 months and 48 months,respectively.CONCLUSION Certain histopathological findings,including a decrease or disappearance of goblet and Paneth cells in intestinal biopsies,might be potential diagnostic criteria for adult AIE.The long-term prognosis is still unsatisfactory despite corticosteroid and immunosuppressan

关键词： Autoimmune enteropathy clinical manifestations Diagnostic criteria Pathological features Long-term prognosis

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Review of risk factors,clinical manifestations,rapid diagnosis,and emergency treatment of neonatal perioperative pneumothorax

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World Journal of clinical Cases 2022年第33期10卷 12066-12076页

作者： Xu Zhang Ning Zhang Yue-Yi Ren Department of Heart Center Women's and Children's Hospital Affiliated to Qingdao UniversityQingdao 266034Shandong ProvinceChina Department of clinical Laboratory Women's and Children's Hospital Affiliated to Qingdao UniversityQingdao 266034Shandong ProvinceChina

Perioperative neonatal pneumothorax(NP)is rare but very fatal.Most of the surgeries and treatments in the neonatal period are time-limited or emergent,and there are often some risk factors for pneumothorax before surgery.Physicians,surgeons and anesthesiologists need to identify possible risk factors for pneumothorax before surgery in preterm babies,patients receiving mechanical ventilation and those with underlying lung disease.The clinical presentation of NP is nonspecific,and patients may rapidly develop life-threatening complications if not promptly diagnosed and managed.This review highlights recent progress in the identification of risk factors,clinical manifestations,diagnosis and management of NP during the perioperative period.

关键词： Neonatal Perioperative Pneumothorax Risk factors clinical manifestations Diagnosis Management

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Pathogenesis,clinical manifestations,diagnosis,and treatment progress of achalasia of cardia

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World Journal of clinical Cases 2023年第8期11卷 1741-1752页

作者： Ming-Yue Li Qing-Hua Wang Run-Peng Chen Xiao-Fang Su Dong-Yang Wang School of Nursing Binzhou Medical UniversityYantai 264003Shandong ProvinceChina Faculty of Nursing Mahidol UniversityNakhon Pathom 73170Thailand

Achalasia cardia,type of esophageal dynamic disorder,is a relatively rare primary motor esophageal disease characterized by the functional loss of plexus ganglion cells in the distal esophagus and lower esophageal sphincter.Loss of function of the distal and lower esophageal sphincter ganglion cells is the main cause of achalasia cardia,and is more likely to occur in the elderly.Histological changes in the esophageal mucosa are considered pathogenic;however,studies have found that inflammation and genetic changes at the molecular level may also cause achalasia cardia,resulting in dysphagia,reflux,aspiration,retrosternal pain,and weight loss.Currently,the treatment options for achalasia focus on reducing the resting pressure of the lower esophageal sphincter,helping to empty the esophagus and relieve symptoms.Treatment measures include botulinum toxin injection,inflatable dilation,stent insertion,and surgical myotomy(open or laparoscopic).Surgical procedures are often subject to controversy owing to concerns about safety and effectiveness,particularly in older patients.Herein,we review clinical epidemiological and experimental data to determine the prevalence,pathogenesis,clinical presentation,diagnostic criteria,and treatment options for achalasia to support its clinical management.

关键词： Achalasia cardia Pathogenesis clinical manifestations Diagnosis Treatment

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Adult-onset idiopathic hypogonadotropic hypogonadism： possible aetiology, clinical manifestations and management

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Asian Journal of Andrology 2010年第4期12卷 611-614页

作者： Jiang-Feng Mao Min Nie Shuang-Yu Lu Xue-Yan Wu Department of Endocrinology Peking Union Medical College Hospital Beijing 100730 China

We are doctors from Peking Union Medical College Hospital, Beijing, China. Male idiopathic hypogonadotropic hypogonadism （IHH） is a congenital disease that manifests as small testes, a short penis and no pubertal development. Some patients exhibit cryptorchism and ambiguous genitalia [1]. IHH has been reported being caused by gene mutations in KAL-1, FGFR1, GnRHR, GPR54, and several other ligands and receptors [2]. For these patients, gonadotropins or testosterone is the primary choice of therapy. However, adult-onset IHH,

关键词： possible aetiology clinical manifestations management

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Hepatic manifestations of coronavirus disease 2019 infection:clinical and laboratory perspective

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World Journal of Virology 2022年第6期11卷 453-466页

作者： Farina M Hanif Zain Majid Shoaib Ahmed Nasir H Luck Muhammed Mubarak Department of Hepatogastroenterology Sindh Institute of Urology and TransplantationKarachi 74200SindhPakistan Department of Pathology Sindh Institute of Urology and TransplantationKarachi 74200SindhPakistan

The novel coronavirus disease 2019(COVID-19)pandemic,caused by severe acute respiratory syndrome coronavirus 2,has become a global challenge of unprecedented nature since December 2019.Although most patients with COVID-19 exhibit mild clinical manifestations and upper respiratory tract involvement,in approximately 5%-10%of patients,the disease is severe and involves multiple organs,leading to multi-organ dysfunction and failure.The liver and gastrointestinal tract are also frequently involved in COVID-19.In the context of liver involvement in patients with COVID-19,many key aspects need to be addressed in both native and transplanted organs.This review focuses on the clinical presentations and laboratory abnormalities of liver function tests in patients with COVID-19 with no prior liver disease,patients with pre-existing liver diseases and liver transplant recipients.A brief overview of the history of COVID-19 and etiopathogenesis of the liver injury will also be described as a prelude to better understanding the above aspects.

关键词： COVID-19 Liver injury SARS-CoV-2 clinical manifestations Liver function tests Cirrhosis

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clinical manifestations and influencing factors of Huntington’s disease in China

Clinical manifestations and influencing factors of Huntingto...

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中国神经科学学会第十二届全国学术会议

作者： Zhi-Ying Wu Department of Neurology and Research Center of Neurology Second Affiliated HospitalZhejiang University School of Medicine

Huntington’s disease（HD） is an autosomal dominant inherited neurodegenerative disease caused by a CAG repeat expansion in the HTT gene encoding huntingtin. Our objective is to elucidate the clinical feature of HD in Han Chinese population and its association with genotype. The clinical data and blood samples were collected on a series of follow-up. The polymerase chain reaction（PCR） and direct sequencing was used to determine the CAG repeat number. The（CAG） n copy number of HTT abnormal allele and the onset age of adult HD patients showed a negative correlation. There was significant difference in the（CAG） n copy number between patients with maternal and paternal inheritance. In summary, the clinical and genetic characteristics of Chinese HD patients are generally similar with Caucasian HD patients. Whereas, the characteristics of some special types of HD, such as homozygous HD and adult HD with atypical onset symptoms, is still not clear. We will keep working at enlarging our sample size to further exploring this issue.

关键词： Huntington’s disease clinical manifestations Influence factors

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Huge gastric plexiform fibromyxoma presenting as pyemia by rupture of tumor:A case report

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World Journal of clinical Cases 2022年第7期10卷 2253-2260页

作者： Rui Zhang Li-Gang Xia Kai-Bin Huang Nan-Di Chen The Second clinical Medical College Shenzhen People’s HospitalJinan UniversityShenzhen 518020Guangdong ProvinceChina

BACKGROUND Plexiform fibromyxoma(PF)is a rare mesenchymal tumor,with limited case reports worldwide.Common clinical symptoms are abdominal discomfort and bleeding signs,which frequently present slow-onset in reported cases.Herein,we report a case of gastric PF presenting as acute onset and with pyemia accompanying tumor rupture.We resected the tumor as well as the distal gastric,bulbus duodeni and gallbladder for treatment in emergency surgery.Notably,before the onset of the disease,the patient received coronavirus disease 2019(COVID-19)vaccines.CASE SUMMARY A 26-year-old man was admitted to our hospital,due to abdominal pain and fever after having received COVID-19 vaccines.Laboratory examination indicated severe sepsis.Computed tomography scan revealed a large mass in the abdomen.Deformation of the gastrointestinal tract was seen during gastroscopy.After failure of anti-infective treatment and symptoms of shock developed,he received an emergency surgery.We found a huge and partly ruptured mass,with thick purulence.Microscopically,the mass was composed of spindle cells with clarified cytoplasm,accompanied by myxoid stroma and arborizing blood vessels.Immunohistochemistry showed the tumor cells as positive for smooth muscle actin and succinate dehydrogenase subunit B but negative for DOG-1 and CD117.Finally,the patient was diagnosed with gastric PF and discharged from the hospital.CONCLUSION Gastric PF manifesting as tumor rupture combined with pyemia is rare.Timely surgery is critical for optimal prognosis.

关键词： Gastric plexiform fibromyxoma clinical manifestations Sepsis Emergency surgery Pathology COVID-19 vaccines Case report

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clinical features,radiological imaging,and treatment strategies of nonmetallic intraorbital foreign bodies:a retrospective analysis

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International Journal of Ophthalmology(English edition) 2023年第7期16卷 1130-1137页

作者： Guang-Rui Chai Ming Chen Zi-Xun Song Lu Liu Department of Ophthalmology Shengjing Hospital of China Medical UniversityShenyang 110004Liaoning ProvinceChina

AIM:To provide comprehensive data on nonmetallic intraorbital foreign bodies(IOFBs)by summarizing and analyzing material types,clinical manifestations,imaging features,and treatment strategies.METHODS:Totally 28 nonmetallic IOFB cases treated at Shengjing Hospital of China Medical University from 2012 to 2020 were retrospectively reviewed.The types of foreign bodies,clinical features,imaging manifestations,and treatment outcomes were analyzed.RESULTS:Among all cases,67.8%(19/28)of the foreign bodies were organic.The top three entrances were the upper eyelid skin(7/28),lower fornix conjunctiva(6/28),and lower eyelid skin(4/28).In most cases(11/28,39.3%),foreign bodies remained in the medial orbits.The major clinical manifestations included eyelid redness and swelling(20/28,71.4%),conjunctival congestion and edema(17/28,60.7%),and ophthalmoptosis(15/28,53.6%).Infection was the main complication,which occurred in 57.1%(16/28)of all cases.Computerized tomography(CT)values differed for different foreign bodies and varied in the different periods after injury.The plant-and grease-derived foreign bodies and the surrounding pus cysts showed different signals on magnetic resonance imaging(MRI).The prognosis varied with different foreign body types,surgery timing,and intraoperative management.CONCLUSION:The majority of nonmetallic IOFBs are organic and often remain in the superior,medial,and inferior areas of the orbit.clinical manifestations vary owing to their different textures.CT and MRI facilitate the identification of foreign body materials.Plant-derived foreign bodies should be completely removed,and surgical treatment is a complicated process.

关键词： orbital trauma nonmetallic intraorbital foreign body clinical manifestations computed tomography magnetic resonance imaging

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Non-pulmonary involvement in COVID-19:A systemic disease rather than a pure respiratory infection

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World Journal of clinical Cases 2023年第3期11卷 493-505页

作者： Mohamed El-Kassas Mohamed Alboraie Mohamed Elbadry Reem El Sheemy Mohamed Abdellah Shimaa Afify Ahmad Madkour Mariam Zaghloul Abeer Awad Mohamed-Naguib Wifi Amira Al Balakosy Mohamed Eltabbakh Department of Endemic Medicine Faculty of MedicineHelwan UniversityCairo 11731Egypt Department of Internal Medicine Al-Azhar UniversityCairo 11884Egypt Department of Tropical Medicine Minia Faculty of MedicineMinia UniversityMinia 61511Egypt Department of Gastroenterology National Hepatology and Tropical Medicine Research InstituteCairo 11451Egypt Department of Hepatology Gastroenterology and Infectious DiseasesFaculty of MedicineKafrelsheikh UniversityKafrelsheikh 33511Egypt Department of Internal Medicine Hepatogastroenterology UnitKasr Al-Ainy School of MedicineCairo 11451Egypt Department of Tropical Medicine Ain Shams UniversityCairo 11451Egypt

During the early phase of the coronavirus disease 2019(COVID-19)pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),diagnosis was difficult due to the diversity in symptoms and imaging findings and the variability of disease presentation.Pulmonary manifestations are reportedly the main clinical presentations of COVID-19 patients.Scientists are working hard on a myriad of clinical,epidemiological,and biological aspects to better understand SARS-CoV-2 infection,aiming to mitigate the ongoing disaster.Many reports have documented the involvement of various body systems and organs apart from the respiratory tract including the gastrointestinal,liver,immune system,renal,and neurological systems.Such involvement will result in diverse presentations related to effects on these systems.Other presentations such as coagulation defects and cutaneous manifestation may also occur.Patients with specific comorbidities including obesity,diabetes,and hypertension have increased morbidity and mortality risks with COVID-19.

关键词： COVID-19 Non-pulmonary Extrapulmonary clinical manifestations Systemic disease

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clinical Characteristics,Diagnosis,and Therapeutics of COVID-19:A Review

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Current Medical Science 2023年第6期43卷 1066-1074页

作者： Na-na XIE Wen-cong ZHANG Jia CHEN Fang-bing TIAN Jian-xin SONG Department of Infectious Diseases Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

The novel severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)that suddenly emerged at the end of December 2019 and caused coronavirus disease 2019(COVID-19)continues to afflict humanity,not only seriously affecting healthcare systems but also leading to global social and economic imbalances.As of August 2022,there were approximately 580 million confirmed cases of COVID-19 and approximately 6.4 million confirmed deaths due to this disease.The data are sufficient to highlight the seriousness of SARS-CoV-2 infection.Although most patients with COVID-19 present primarily with respiratory symptoms,an increasing number of extrapulmonary systemic symptoms and manifestations have been associated with COVID-19.Since the outbreak of COVID-19,much has been learned about the disease and its causative agent.Therefore,great effort has been aimed at developing treatments and drug interventions to treat and reduce the incidence of COVID-19.In this narrative review,we provide a brief overview of the epidemiology,mechanisms,clinical manifestations,diagnosis,and therapeutics of COVID-19.

关键词： coronavirus disease 2019 severe acute respiratory syndrome coronavirus 2 mechanism clinical manifestations diagnosis therapeutics

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