期刊文献+
共找到8,772篇文章
< 1 2 250 >
每页显示 20 50 100
Paediatric renal tumors:An insight into molecular characteristics,histomorphology and syndromic association
1
作者 Mousmi Agrawal Amit K Chowhan 《World Journal of Nephrology》 2025年第2期14-26,共13页
Paediatric renal tumors are rare and accounts for about 7%of all paediatric malignant tumors.The spectrum of paediatric renal tumors ranges from benign to malignant.Benign tumors include cystic nephroma,metanephric tu... Paediatric renal tumors are rare and accounts for about 7%of all paediatric malignant tumors.The spectrum of paediatric renal tumors ranges from benign to malignant.Benign tumors include cystic nephroma,metanephric tumors and ossifying renal tumor of infancy.Tumor with low grade malignancy includes mesoblastic nephroma.Malignant tumors are nephroblastoma,clear cell sarcoma,malignant rhabdoid tumor,anaplastic sarcoma and Ewing sarcoma.Additionally,there are molecularly defined renal tumors,which includes renal cell carcinoma(RCC)with MiT translocations,ALK-rearranged RCC,eosinophilic solid and cystic RCC and SMARCB1-deficient renal medullary carcinoma.These tumors apart from having characteristic clinical presentation and histomorphology,also carry typical molecular mutations and translocations.Certain renal tumors have association with various genetic syndromes such as Beckwith-Weidmann syndrome,Wilm’s tumor,aniridia,genitourinary anomalies and mental retardation syndrome,Denys-Drash syndrome,rhabdoid tumor predisposition syndrome and DICER syndrome.This review article focusses on molecular characteristics,histomorphology and syndromic association of pediatric renal tumors,their immunohistochemical approach to diagnosis with recent updates in molecularly defined renal tumors. 展开更多
关键词 Genetic syndrome IMMUNOHISTOCHEMISTRY PAEDIATRIC Renal tumor BENIGN MALIGNANT Molecular characteristics
暂未订购
Social network analysis and modeling of cellphone-based syndromic surveillance data for ebola in Sierra Leone 被引量:1
2
作者 Jia B Kangbai 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2016年第9期829-833,共5页
Objective:To explore and visualize the connectivity of suspected Ebola cases and surveillance callers who used cellphone technology in Moyamba District in Sierra Leone for Ebola surveillance,and to examine the demogra... Objective:To explore and visualize the connectivity of suspected Ebola cases and surveillance callers who used cellphone technology in Moyamba District in Sierra Leone for Ebola surveillance,and to examine the demographic differences and characteristics of Ebola surveillance callers who make more calls as well as those callers who are more likely to make at least one positive Ebola call.Methods:Surveillance data for 393 suspected Ebola cases(192 males,201 females) were collected from October 23,2014 to June 28,2015 using cellphone technology.UCINET and Net Draw software were used to explore and visualize the social connectivity between callers and suspected Ebola cases.Poisson and logistic regression analyses were used to do multivariable analysis.Results:The entire social network was comprised of 393 ties and 745 nodes.Women(AOR=0.33,95% CI [0.14,0.81]) were associated with decreased odds of making at least one positive Ebola surveillance call compared to men.Women(IR= 0.63,95% CI [0.49,0.82]) were also associated with making fewer Ebola surveillance calls compared to men.Conclusion:Social network visualization can analyze syndromic surveillance data for Ebola collected by cellphone technology with unique insights. 展开更多
关键词 EBOLA syndromic SURVEILLANCE SOCIAL network Analysis Cellphone Outdegree CENTRALITY
暂未订购
Socio-Demographic, Clinical, and Hygiene Profile of Syndromically Managed Sexually Transmitted Diseases: A Cross Sectional Study in a Tertiary Care Center in India 被引量:1
3
作者 Darshi Desai Erum Khan Dinesh Rathod 《International Journal of Clinical Medicine》 2021年第12期551-569,共19页
<strong>Background:</strong> Sexually transmitted diseases are one of the several major public health concerns, the burden of which is borne by low- and middle-income countries like India.<strong> Pu... <strong>Background:</strong> Sexually transmitted diseases are one of the several major public health concerns, the burden of which is borne by low- and middle-income countries like India.<strong> Purpose:</strong> The purpose is to evaluate the relationship between menstrual and sanitary hygiene and sexually transmitted diseases (STD) based on syndromic diagnosis<strong> Methods:</strong> An out-patient department (OPD) based cross sectional survey to determine these associations, if any exist, which would help critically analyze syndromic management. STD was reported by the presence of vaginal/cervical/urethral discharge with or without irritation and itching, lower abdominal pain and ulcer. <strong>Results:</strong> The prevalence of STD was 66.84% with the most commonly reported symptoms being discharged (31.18%), followed by abdominal pain (17.92%) and itching/irritation (12.90%), with ulcer (4.83%) being the least reported symptom. Perimenopausal age ((AOR: 0.420 [CI: 0.189 - 0.915];p = 0.030), higher grades of education ((AOR: 0.228 [CI: 0.119 - 0.424];p < 0.001) for secondary), urban residency (AOR: 0.435 [CI: 0.686 - 2.733];p < 0.001), and contraception use (AOR: 0.531 [CI: 0.308 - 0.887];p = 0.018) were associated with lesser odds of presenting with an STD symptom. Belonging to a minority religious community (AOR: 7.20 [CI: 1.866 - 48.251];p < 0.012) or backward castes (AOR: 3.753 [CI: 1.587 - 10.144];p < 0.001), having similar illness (AOR: 4.205 [CI: 2.795 - 6.439];p < 0.001) or having an invasive gynecological procedure done in the past one year (AOR: 1.953 [CI: 1.184 - 3.295];p = 0.010) and washing the reusable sanitary material only with water (AOR: 4.900 [CI: 2.701 - 9.116];p < 0.001) as compared to washing it with water and soap, had a higher association with presenting with STD symptoms. Stratified analysis also showed that women presenting discharge (AOR: 2.049 [CI: 1.343 - 3.146] for vaginal and cervical;AOR: 1.426 [CI: 0.826 - 2.482] for urethral) were more likely to not have a toilet facility in an accessible condition. Women with sanitary napkin use had lesser odds (AOR: 0.780 [CI: 0.516 - 1.180];p = 0.293) of presentation for STD in OPD than women who used other material.<strong> Conclusion:</strong> To better manage the group of diseases that may present with symptoms of STD under syndromic approach, we propose interventions such as menstrual hygiene education and promotion of the use of sanitary napkins among women especially those belonging to lower socio-economic sections of the society. 展开更多
关键词 Sexually Transmitted Diseases Menstrual Hygiene SOCIO-DEMOGRAPHICS Sexually Transmitted Infections Reproductive Tract Infections syndromic Management
暂未订购
Advances on Syndromic Management of Sexually Transmitted Diseases 被引量:1
4
作者 王千秋 《Chinese Journal of Sexually Transmitted Infections》 2002年第1期13-18,共6页
Research data showed that syndromic approach could successfully manage gonococcal and chlamydial infections in males and syphilis and chancroid in males and females. However, low sensitivity, specificity and positive ... Research data showed that syndromic approach could successfully manage gonococcal and chlamydial infections in males and syphilis and chancroid in males and females. However, low sensitivity, specificity and positive predictive value were found in the syndromic management of vaginal discharge. It is recommended that the syndromic algorithm for management of vaginal discharge used when serving high-risk and symptomatic women. 展开更多
关键词 Sexually transmitted diseases syndromic management
暂未订购
Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa
5
作者 Irma Eneida Dos Santos Joseph Matar Mass Ndiaye +8 位作者 Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth 《Open Journal of Ophthalmology》 2024年第2期168-173,共6页
Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of ... Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling. 展开更多
关键词 Retinitis Pigmentosa syndromic HEREDITY CILIOPATHY
暂未订购
Rationale of Cross-Sectional Descriptive Study on Clinical Effectiveness of Oral Combination Therapy Based on Secnidazole, Azithromycin and Fluconazole in Syndromic Treatment of Abnormal Vaginal Discharge in Kinshasa/DR Congo
6
作者 Muela Andy Mbangama Feruzi Michel Mangala +8 位作者 Di-Mosi-Nkoyi Roger Wumba Ambis Joelle Lumaya Nkongolo Freddy Muamba Mubalamata Eugene-Patrick Lukusa Nkashama Bienvenu Kazadi Ndombasi Nelda Lemba Banza Jésual Lotoy Oteme Christian Ndesanzim Mwimba Roger Mbungu 《Open Journal of Obstetrics and Gynecology》 2023年第11期1807-1815,共9页
Background: Vaginal discharge is one of the most common troubles faced by childbearing age women. About 20% - 25% of women who visit service of gynecology complain of vaginal discharge and leucorrhoea. Management of v... Background: Vaginal discharge is one of the most common troubles faced by childbearing age women. About 20% - 25% of women who visit service of gynecology complain of vaginal discharge and leucorrhoea. Management of vaginal discharge in low-income countries generally depends on syndromic approach, which limits the understanding of specific responsible agents. Thus targeted management is based on the identification of causal organism and targeting of therapy against it, while syndromic management is based on presence of high risk factors. Thus the oral combination kit (Azimyn FS Kit®) offers convenience of a one-day treatment compared to other multidose treatments, which will also ensure high patient adherence to treatment, thus increasing chances of desired results. Due to its widespread use, it is proposed to evaluate the effectiveness of this oral association kit therapy in management of vaginal discharge in the population of our milieu in the Democratic Republic of Congo (DRC) particularly those received in outpatient consultation in some medical facilities in city of Kinshasa. Expensive laboratory tests and the associated waiting period for result mean that patient remains without treatment while waiting for test results. Therefore, by adopting a syndromic management approach, patient’s eligibility for treatment will be decided based on abnormal vaginal discharge, their characteristics, severity and other presentations symptomatic. This approach will also avoid losing sight of patients during follow-up and will help to reduce financial burden for patients. Objectives: To determine the efficacy and safety of oral combination kit therapy containing secnidazole, azithromycin and fluconazole (Azimyn FS Kit®) in syndromic treatment of abnormal vaginal discharge in patients received in outpatient consultation in some medical facilities in the city of Kinshasa;to measure rate of recurrence of abnormal vaginal discharge in these patients. And to identify the adverse effects observed in these patients who received treatment with the combined oral kit containing secnidazole, azithromycin and fluconazole (Azimyn FS Kit®) in outpatient consultation in some medical facilities in the city of Kinshasa. Methods: It will be a cross-sectional descriptive study. Sample size will be 319 women of childbearing age who consult the gynecology department with complaint of abnormal vaginal discharge and suspicion of vaginal infection, who agree to abstain from sex during treatment and who have given their written consent to use their personal and/or health data in the study. Conclusion: A study on clinical efficacy of oral combination therapy based on secnidazole, azithromycin and fluconazole is beneficial. 展开更多
关键词 Combination Therapy syndromic Treatment Abnormal Vaginal Discharge
暂未订购
A Clinical Study to Assess the Effectiveness of Oral Combination Kit Therapy in Syndromic Management of Abnormal Vaginal Discharge (FEMINE Study) in Kinshasa, Democratic Republic of Congo
7
作者 Feruzi Michel Mangala Muela Andy Mbangama +10 位作者 Di-Mosi-Nkoy Roger Wumba Ambis Joëlle Lumaya Nkongolo Freddy Muamba Tshitadi Jean Mukendi Ndombasi Neilda Lemba Otem Christian Ndesanzim Nkashama Bienvenu Kazadi Banza Jesual Lotoy Umba Adrien Tandu Mushengezi Dieudonné Sengeyi Mwimba Roger Mbungu 《Open Journal of Obstetrics and Gynecology》 2024年第1期193-208,共16页
Background: Vaginal discharge is one of most common and nagging problems that women face. About 20% - 25% of women who visit gynecology department complain of vaginal discharge and leucorrhoea. An orally administered ... Background: Vaginal discharge is one of most common and nagging problems that women face. About 20% - 25% of women who visit gynecology department complain of vaginal discharge and leucorrhoea. An orally administered combination kit, containing 2 g secnidazole, 1 g azithromycin and 150 mg fluconazole (Azimyn FS Kit), has been successfully evaluated in clinical trials and used in several countries for management syndromic vaginal discharge due to infections. Methods: This is a longitudinal study which aimed to verify the clinical efficacy of the combined oral kit containing secnidazole, azithromycin and fluconazole (Azimyn FS Kit<sup><sup>®</sup></sup>) in the syndromic treatment of abnormal vaginal discharge in patients received in outpatient consultations in Kinshasa/DR Congo from March to September 2023. Results: Majority of patients had whitish vaginal discharge (51.6%) of average abundance (56.2%), accompanied by pruritus in 72.1% of cases, and dyspareunia in 23.5% of cases and hypogastralgia in 40.2% of cases. One week after treatment with the Azimyn FS<sup><sup>®</sup></sup> combined kit, at the greatest majority of patients (97.3%), abnormal vaginal discharge had decreased by more than 50% (84.1%). Two weeks after treatment with the Azimyn FS<sup><sup>®</sup></sup> combined kit, almost all patients (97.3%) no longer had abnormal vaginal discharge which had completely disappeared. Conclusion: A single dose of secnidazole, azithromycin and fluconazole in the form of an oral combi-kit (Azimyn FS Kit) has shown excellent therapeutic effectiveness in the syndromic treatment of abnormal vaginal discharge wherein patients were treated without diagnostic confirmation. 展开更多
关键词 Oral Combination Kit Therapy syndromic Management Abnormal Vaginal Discharge
暂未订购
Facilitating the Implementation of Sexually Transmitted Infection Syndromic Management in China
8
作者 王千秋 邵长庚 《Chinese Journal of Sexually Transmitted Infections》 2002年第4期1-6,共6页
Objerctive: To introduce the current status of implementing sexually transmitted infection (STIs)syndromic management in China. Methods: Data werecollected and analyzed from the literature. Possiblesolutions were sugg... Objerctive: To introduce the current status of implementing sexually transmitted infection (STIs)syndromic management in China. Methods: Data werecollected and analyzed from the literature. Possiblesolutions were suggested for the obstacles encountered inthe implementation process. Results: Validation of revised flowcharts for themanagement of three syndromes (urethritis, vaginaldischarge, and genital ulcers) has been conducted in China.The feasibility, effectiveness and acceptance of using asyndromic STI approach were investigated in a large studyin Hainan, Zhejiang and Hubei Provinces. Chief obstaclesto implementation included the following: lack of supportfrom government authorities; negative reaction by hospitals;lack of critical thinking and innovation; perceivedover-emphasis on treatment at the expense of prevention;and lack of coverage for several important pathogens withintreatment algorithms. Possible solutions may include policyadvocacy, adopting syndromic management into a Chinesecontext, ssemination and promotion, training of providers, encouraging use of syndromic approach, and conductingoperational rescarch. Conclusions: Syndromic STI management provides afeasible approach for the diagnosis and treatment of STIs inChina. Further efforts should be made for scaling up itsapplication in clinical settings. 展开更多
关键词 sexually transmitted infections syndromic approach
暂未订购
CLINICAL SIMULATED EXPERIMENT ON SYNDROMIC STANDARDS OF PULMONARY SYSTEM DISEASES
9
作者 Mulin Xu Luoyu Road,Wuban 40074,China 《Chinese Journal of Biomedical Engineering(English Edition)》 1993年第4期179-179,共1页
Clinical simulated experiment (CSE) is an intermediate experiment in clinic withmodern functional simulation.Traditional Chinese Medicine (TCM) has a long histo-ry with an unique system of medical theory which has not... Clinical simulated experiment (CSE) is an intermediate experiment in clinic withmodern functional simulation.Traditional Chinese Medicine (TCM) has a long histo-ry with an unique system of medical theory which has not been standardized and cannot be fully explained by modern natural sciences.CSE on the syndromic standardsof pulmonary system diseases (SSOPSD) was carried out by following TCM’s theo- 展开更多
关键词 standardized syndromic explained CLINIC stimulate SPREAD PROGRAMS
暂未订购
Syndromic Management of Sexually Transmitted Diseases inAntenatal and Family Planning Clinic Attendees
10
作者 邵长庚 《Journal of Reproduction and Contraception》 CAS 1998年第2期114-120,共7页
For the purpose of control of STDs and AIDS, WHO has recommended the syn-dromic approach to prompt and complete diagnosis and treatment of diseases. In ante-natal and family planning clinic attendees (a low STD preval... For the purpose of control of STDs and AIDS, WHO has recommended the syn-dromic approach to prompt and complete diagnosis and treatment of diseases. In ante-natal and family planning clinic attendees (a low STD prevalence population), theuse of signs and symptoms and the risk assessment can be evaluated as a screening toolto manage infections factors (RTIS ) in women. However, for the asymptomatic indi-viduals more sensitive and specific laboratory tests should be used to find out more STDpatlents.The syndromic management of genital ulceration and lower abdominal pain inwomen appears to be feasible. On the otherh and, the management of abnormal vagi-nal discharge can relleve symptoms of vaginal infections, but prevention of transmis-sion and complications of cervical infections, even adding risk factor assessment andcersical examination, it ofen results in significant amount of overtrealment. However,using the syndromic approach as a screening tool, the diagnosis of cervical infecti0ns inindividuals with a positive screening result can be further confrmed. 展开更多
关键词 STD syndromic management Family planning
全文增补中
Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors 被引量:2
11
作者 Shuang Pan Li-li Xu Li-sha Sun Tie-jun Li 《International Journal of Oral Science》 SCIE CAS CSCD 2009年第1期34-38,共5页
Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four n... Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T). Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs. 展开更多
关键词 keratocystic odontogenic tumor mutation nevoid basal cell carcinoma syndrome PTCH
暂未订购
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
12
作者 Zhi-Lin Ren Hou-Bin Zhang +2 位作者 Lin Li Zheng-Lin Yang Li Jiang 《Zoological Research》 SCIE CAS CSCD 2022年第3期442-456,共15页
Mutations in serologically defined colon cancer autoantigen protein 8(SDCCAG8)were first identified in retinal ciliopathy families a decade ago with unknown function.To investigate the pathogenesis of SDCCAG8-associat... Mutations in serologically defined colon cancer autoantigen protein 8(SDCCAG8)were first identified in retinal ciliopathy families a decade ago with unknown function.To investigate the pathogenesis of SDCCAG8-associated retinal ciliopathies in vivo,we employed CRISPR/Cas9-mediated homology-directed recombination(HDR)to generate two knock-in mouse models,Sdccag8^(Y236X/Y236X) and Sdccag8^(E451GfsX467/E451GfsX467),which carry truncating mutations of the mouse Sdccag8,corresponding to mutations that cause Bardet-Biedl syndrome(BBS)and Senior-L?ken syndrome(SLS)(c.696T>G p.Y232X and c.1339-1340ins G p.E447GfsX463)in humans,respectively.The two mutant Sdccag8 knock-in mice faithfully recapitulated human SDCCAG8-associated BBS phenotypes such as rod-cone dystrophy,cystic renal disorder,polydactyly,infertility,and growth retardation,with varied age of onset and severity depending on the hypomorphic strength of the Sdccag8 mutations.To the best of our knowledge,these knock-in mouse lines are the first BBS mouse models to present with the polydactyly phenotype.Major phototransduction protein mislocalization was also observed outside the outer segment after initiation of photoreceptor degeneration.Impaired cilia were observed in the mutant photoreceptors,renal epithelial cells,and mouse embryonic fibroblasts derived from the knock-in mouse embryos,suggesting that SDCCAG8 plays an essential role in ciliogenesis,and cilium defects are a primary driving force of SDCCAG8-associated retinal ciliopathies. 展开更多
关键词 SDCCAG8 Primary cilia Retinal ciliopathy Bardet-Biedl syndrome(BBS) Senior-L?ken syndrome(SLS) Nephronophthisis(NPHP) POLYDACTYLY
暂未订购
Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens
13
作者 Ye-Lei Tang Xing-Chao Shentu +3 位作者 Su-Juan Zhao Xia-Jing Tang Long He Fei-Yun Ping 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2014年第3期574-576,共3页
We report a case of syndromic gingival fibromatosis with notable ocular lesions,bilateral congenital cataracts,esotropia,and high myopia of a 21-year-old male patient from China.The patient was diagnosed with gingival... We report a case of syndromic gingival fibromatosis with notable ocular lesions,bilateral congenital cataracts,esotropia,and high myopia of a 21-year-old male patient from China.The patient was diagnosed with gingival fibromatosis based on his massive gingival overgrowth and histological findings that were consistent with gingival fibromatosis through a gingival biopsy.Lens opacity features were presented and phacoemulsificaion with intraocular lens(IOL)implantation was performed to manage the cataracts in both eyes.Transmission electronic microscopy was used to investigate the ultrastructure of the removed lens tissue.We also review the literature on gingival fibromatosis and briefly summarize the ocular manifestations of this rare disease. 展开更多
关键词 congenital cataract transmission electron microscopy gingival fibromatosis SYNDROME
原文传递
Novel autosomal dominant syndromic hearing loss caused by COL4A2-related basement membrane dysfunction of cochlear capillaries and microcirculation disturbance
14
作者 Jinyuan Yang Ying Ma +13 位作者 Xue Gao Shiwei Qiu Xiaoge Li Weihao Zhao Yijin Chen Guojie Dong Rongfeng Lin Gege Wei Huiyi Nie Haifeng Feng Xiaoning Gu Bo Gao Pu Dai Yongyi Yuan 《Chinese Medical Journal》 2025年第15期1888-1890,共3页
To the Editor:Type IV collagen,widely distributed in multiple mammalian tissues,is important for maintaining the structural and functional integrity of vessel basement membranes(BMs).Type IV collagen abnormalities can... To the Editor:Type IV collagen,widely distributed in multiple mammalian tissues,is important for maintaining the structural and functional integrity of vessel basement membranes(BMs).Type IV collagen abnormalities can lead to a series of syndromes,such as Alport(#104200).[1]COL4A1 and COL4A2 encodeα1 andα2 chains of type IV collagen,respectivelyα2(IV)is expressed intracellularly and forms a heterotrimer with theα1(IV)protein at a ratio of 1:2(α1[IV]2α2[IV])in the endoplasmic reticulum(ER).This is secreted extracellularly via the golgi apparatus and vesicles with the aid of intracellular chaperones.[2]Previous studies have shown that variations in COL4A1/2 cause a variety of cerebral small vessel diseases,such as human porencephaly,cerebral hemorrhage,and structural malformations of the cerebral cortex.Moreover,these studies have indicated that COL4A1 variations can cause kidney,eye,and muscle dysfunction.[3]However,whether COL4A2(*120090)plays a role in the auditory system remains unclear. 展开更多
关键词 vessel basement membranes bms type iv collagen COL chains autosomal dominant syndromic hearing loss cochlear capillaries microcirculation disturbance endoplasmic reticulum er type iv collagenrespectively iv
原文传递
Acquired immunity and asymptomatic reservoir impact on frontline and airport ebola outbreak syndromic surveillance and response 被引量:2
15
作者 Ernest Tambo Zhou Xiao-Nong 《Infectious Diseases of Poverty》 SCIE 2014年第1期375-384,374,共11页
The number of surveillance networks for infectious disease diagnosis and response has been growing.In 2000,the World Health Organization(WHO)established the Global Outbreak Alert and Response Network,which has been en... The number of surveillance networks for infectious disease diagnosis and response has been growing.In 2000,the World Health Organization(WHO)established the Global Outbreak Alert and Response Network,which has been endorsed by each of the 46 WHO African members since then.Yet,taming the dynamics and plague of the vicious Ebola virus disease(EVD)in African countries has been patchy and erratic due to inadequate surveillance and contact tracing,community defiance and resistance,a lack of detection and response systems,meager/weak knowledge and information on the disease,inadequacies in protective materials protocols,contact tracing nightmare and differing priorities at various levels of the public health system.Despite the widespread acceptance of syndromic surveillance(SS)systems,their ability to provide early warning alerts and notifications of outbreaks is still unverified.Information is often too limited for any outbreak,or emerging or otherwise unexpected disease,to be recognized at either the community or the national level.Indeed,little is known about the role and the interactions between the Ebola infection and exposure to other syndemics and the development of acquired immunity,asymptomatic reservoir,and Ebola seroconversion.Can lessons be learnt from smallpox,polio,and influenza immunity,and can immunization against these serve as a guide?In most endemic countries,community health centers and disease control and prevention at airports solely relies on passive routine immunization control and reactive syndromic response.The frontline and airport Ebola SS systems in West Africa have shown deficiencies in terms of responding with an alarming number of case fatalities,and suggest that more detailed insights into Ebola,and proactive actions,are needed.The quest for effective early indicators(EEE)in shifting the public and global health paradigm requires the development and implementation of a comprehensive and effective community or regional integrated pandemic preparedness and surveillance response systems tailored to local contexts.These systems must have mechanisms for early identification,rapid contact tracing and tracking,confirmation,and communication with the local population and the global community,and must endeavor to respond in a timely manner. 展开更多
关键词 Immunity ASYMPTOMATIC RESERVOIR syndromic Surveillance EBOLA RESPONSE
原文传递
A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea 被引量:1
16
作者 Xian-Xu Zhang Xi Chen +5 位作者 Wei Zhou Vasilis Caesar Mavratsas Yang-Yang Xiao Xin-Rui Tan Song-Jia Zheng Xing-Xing Zhang 《World Journal of Pediatrics》 SCIE CAS CSCD 2022年第12期861-865,共5页
Congenital sodium diarrhea(CSD)is a monogenic disordercausedby specific geneticdefects that increase sodium content in the stool,resulting in intractable diarrhea.The disease was first reported by Holmberg in 1985[1].... Congenital sodium diarrhea(CSD)is a monogenic disordercausedby specific geneticdefects that increase sodium content in the stool,resulting in intractable diarrhea.The disease was first reported by Holmberg in 1985[1].Fewerthan50cases havebeen reportedworldwide todate,mainly in Europe(Germany and Sweden)and Oceania(Australia),while no cases have been reported in China.Therearetwocategories of CSDdependingonwhetherit involves other congenital malformations:non-syndromic congenital sodium diarrhea(non-sCSD)and syndromic congenital sodium diarrhea(sCSD).Fornon-sCSD,the identified causative genes include SLC9A3 and GUCY2C,whereas sCSD is primarily caused bySPINT2mutations[2]. 展开更多
关键词 CONGENITAL DIARRHEA syndromic
原文传递
Comparative analysis of syndromic and PCR-based diagnostic assay reveals misdiagnosis/ overtreatment for trichomoniasis based on subjective judgment in symptomatic patients 被引量:1
17
作者 Subash Chandra Sonkar Kirti Wasnik +2 位作者 Anita Kumar Pratima Mittal Daman Saluja 《Infectious Diseases of Poverty》 SCIE 2016年第1期346-355,共10页
Background:Trichomoniasis,a sexually transmitted disease(STD),is caused by Trichomonas vaginalis in both men and women.Screening of trichomoniasis is problematic in resource challenged settings as currently available,... Background:Trichomoniasis,a sexually transmitted disease(STD),is caused by Trichomonas vaginalis in both men and women.Screening of trichomoniasis is problematic in resource challenged settings as currently available,inexpensive diagnostic methods are of low sensitivity and/or specificity.In India,National AIDS Control organization(NACO)recommended syndromic case management(SCM)for treatment.The objective of the present study was to compare the utility of the NACO-NACP III Algorithms for STI/RTI treatment used by clinicians with PCR based diagnosis.Methods:Patients visiting Department of Obstetrics&Gynecology,Vardhman Mahavir Medical College and Safdarjung Hospital,New Delhi from January 2011 to June 2014 were enrolled in the study to compare the diagnostic efficiency of PCR-based assays against SCM.Based on SCM,patients(n=820)were treated with antibiotics using pre-packed STI/RTI kits(sexually transmitted infection/reproductive tract infection;procured by National AIDS Control/State AIDS Control Society(NACO/SACS),Ministry of Health and Family Welfare,Govt of India.)under National AIDS Control Programme(NACP III)for syndromic case management(SCM).Ectocervical dry swab samples were also obtained from these patients and out of that 634 samples were tested by PCR.Total genomic DNA was extracted from these samples and used as template for PCR amplification using pfoB,gyrA and orf1 gene specific primers for diagnosis of T.vaginalis(TV),Chlamydia trachomatis(CT)and Neisseria gonorrhoeae(NG)respectively.Results:Out of 6000 patients who visited OPD,820(14%)female patients reported vaginal discharge and were recommended antibiotic treatment for one or more pathogens namely,TV,CT,NG and Candida or for co-infection.On the basis of signs&symptoms and NACO guidelines,the following distribution of various infections was observed:TV(46%),CT(20%),coinfection with TV and CT(12%),coinfection with CT and NG(11%),coinfection with TV,CT and Candida(7%)and coinfection with TV and NG(2%).Others were infected with NG alone(1%),coinfected with TV and Candida(0.4%)and 0.3%were coinfected with CT,NG and Candida.Based on PCR method,110(17%)women tested positive for one or more of these three pathogens while 524(83%)women were negative for any of these three pathogens but could be positive for other STIs not tested in this study.Since all the patients(634)were given antibiotics,we estimate that the over-treatment was 85%while 524(83%)patients were also misdiagnosed by SCM.Conclusions:The over-treatment and inaccurate diagnosis of pathogens due to subjective judgment based on syndromic approach in symptomatic women is a large economic wastage and may also contribute towards increased resistance.The misdiagnosed patients will also serve as a reservoir for transmission of pathogens to their sexual partner. 展开更多
关键词 TRICHOMONIASIS syndromic case management PCR based diagnosis MISDIAGNOSIS OVERTREATMENT
原文传递
Validation of diagnostic algorithms for syndromic management of sexually transmitted diseases
18
作者 王千秋 杨凭 +1 位作者 钟铭英 王广聚 《Chinese Medical Journal》 SCIE CAS CSCD 2003年第2期181-186,共6页
s To validate our revised syndromic algorithms of the management of sexually trans mitted diseases and determine their sensitivity, specificity, positive predictiv e value and cost effectiveness Methods Patients w... s To validate our revised syndromic algorithms of the management of sexually trans mitted diseases and determine their sensitivity, specificity, positive predictiv e value and cost effectiveness Methods Patients with either urethral discharge, vaginal discharge or genital ulcer, wer e selected during their first visits to three urban sexually transmitted disease clinics in Fujian Province, China They were managed syndromically according t o our revised flowcharts The etiology of the syndromes was detected by laborat ory testing The data were analyzed using EPI INFO V6 0 software Results A total of 736 patients were enrolled into the study In male patients with ur ethral discharge, the sensitivities for gonococcal and chlamydial infections wer e 96 7% and 100%, respectively, using the syndromic approach The total positi ve predictive value was 73% In female patients with vaginal discharge, the sen sitivity was 90 8%, specificity 46 9%, positive predictive value 50 9%, and n egative predictive value 89 3% for the diagnosis of gonorrhea and/or chlamydial infection by syndromic approach In patients with genital ulcer, the sensitivi ties were 78 3% and 75 8%, specificities of 83 6% and 42 9%, and positive pr edictive values of 60 0% and 41 0% for the diagnosis of syphilis and genital h erpes, respectively, using the syndromic approach Cost effectiveness analysi s indicated that the average cost of treatment for a patient with urethral disch arge was RMB 46 03 yuan using syndromic management, in comparison with RMB 149 19 yuan by etiological management Conclusions The syndromic management of urethral discharge was relatively effective and suit ed clinical application The specificity and positive predictive value for sy ndromic management of vaginal discharge are not satisfactory The revised flowc hart of genital ulcer syndrome could be suitable for use in clinical settings Further validation and revision are needed for syndromic approaches of vaginal d ischarge and genital ulcer 展开更多
关键词 sexually transmitted diseases · syndromic managem ent · Neisseria gonorrhoeae · CHLAMYDIA TRACHOMATIS · syphi lis · genital herpes
原文传递
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft
19
作者 Huaxiang Zhao Wenjie Zhong +15 位作者 Wenbin Huang Guozhu Ning Jieni Zhang Mengqi Zhang Peiqi Meng Yunfan Zhang Qian Zhang Hongping Zhu Gulibaha Maimaitili Yi Ding Weiran Li Wei Liang Zhibo Zhou Qiang Wang Feng Chen Jiuxiang Lin 《Protein & Cell》 SCIE CSCD 2024年第10期783-789,共7页
Dear Editor,Orofacial cleft(OFC),which includes cleft lip and/or palate(CL/P)and cleft palate(CP),is the most common congenital craniofacial structural disorder,with a prevalence of 1.416%。among live infants worldwid... Dear Editor,Orofacial cleft(OFC),which includes cleft lip and/or palate(CL/P)and cleft palate(CP),is the most common congenital craniofacial structural disorder,with a prevalence of 1.416%。among live infants worldwide(Massenburg et al.,2021).Nonsyndromic OFC(NSOFC),which does not contain other malformations as syndromic OFC(SOFC),accounts for 70%of cases and is believed to have complex etiologies.Notably,it has been established that genetic factors play a crucial role in the occurrence of NSOFC(Dixon et al.,2011). 展开更多
关键词 DIXON WHOLE syndromic
暂未订购
Utility of syndromic approach in management of sexually transmitted infections:public health perspective
20
作者 Saurabh RamBihariLal Shrivastava Prateek Saurabh Shrivastava Jegadeesh Ramasamy 《Journal of Coastal Life Medicine》 2014年第1期7-13,共7页
Sexually transmitted infections(STIs)are infections that are mainly transmitted from person-to-person through sexual contact.Untreated or inadequately treated STIs can have significant impact on the maternal and newbo... Sexually transmitted infections(STIs)are infections that are mainly transmitted from person-to-person through sexual contact.Untreated or inadequately treated STIs can have significant impact on the maternal and newborn health.An extensive search of all materials related to the topic was made using library sources including PubMed,Medline and World Health Organization website for a period of one month.Relevant documents,technical publication series,systematic reviews,research articles focusing on the practice of syndromic management in treatment of STIs published in the period 1995-2013 were included in the review.The identified articles were then re-grouped into different sections for better understanding.Keywords used in the search include syndromic management,sexually transmitted infections,women,reproductive age-group and pregnancy.There is an immense need for implementation of prevention and control of STIs because of the associated morbidity/mortality,association with HIV and adverse outcomes of pregnancy and burdening of the health system.Multiple socio-demographic determinants have been identified,which usually precipitates STIs.In addition,some of the barriers have been recognized which is hampering with the expected utilization of the health care services.To counter the high prevalence of reproductive tract infection/STI,especially in countries with limited resources,syndromic diagnostic approach has been adopted by countries for the standardized management of sexually transmitted disease cases.The aim of syndromic management is to identify a syndrome and treat it accordingly with combination therapy which will cover the main pathogens that cause it.Strategies have been suggested to overcome the limitations of the syndromic approach and bring the problem under control.To conclude,syndromic management is a rapid and cost-effective approach in reducing the transmission of STIs. 展开更多
关键词 Sexually transmitted infections syndromic approach Barriers Reproductive age-group
原文传递
上一页 1 2 250 下一页 到第
使用帮助 返回顶部