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Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa
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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
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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
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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
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Social network analysis and modeling of cellphone-based syndromic surveillance data for ebola in Sierra Leone 被引量:1
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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
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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
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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
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Advances on Syndromic Management of Sexually Transmitted Diseases 被引量:1
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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
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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
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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
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Facilitating the Implementation of Sexually Transmitted Infection Syndromic Management in China
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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
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CLINICAL SIMULATED EXPERIMENT ON SYNDROMIC STANDARDS OF PULMONARY SYSTEM DISEASES
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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
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Syndromic Management of Sexually Transmitted Diseases inAntenatal and Family Planning Clinic Attendees
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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
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Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors 被引量:2
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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
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Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
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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
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Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens
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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
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Acquired immunity and asymptomatic reservoir impact on frontline and airport ebola outbreak syndromic surveillance and response 被引量:2
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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
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A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea 被引量:1
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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
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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
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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
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Targeting TrkB–PSD-95 coupling to mitigate neurological disorders
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作者 Xin Yang Yu-Wen Alvin Huang John Marshall 《Neural Regeneration Research》 SCIE CAS 2025年第3期715-724,共10页
Tropomyosin receptor kinase B(TrkB)signaling plays a pivotal role in dendritic growth and dendritic spine formation to promote learning and memory.The activity-dependent release of brain-derived neurotrophic factor at... Tropomyosin receptor kinase B(TrkB)signaling plays a pivotal role in dendritic growth and dendritic spine formation to promote learning and memory.The activity-dependent release of brain-derived neurotrophic factor at synapses binds to pre-or postsynaptic TrkB resulting in the strengthening of synapses,reflected by long-term potentiation.Postsynaptically,the association of postsynaptic density protein-95 with TrkB enhances phospholipase Cγ-Ca^(2+)/calmodulin-dependent protein kinaseⅡand phosphatidylinositol 3-kinase-mechanistic target of rapamycin signaling required for long-term potentiation.In this review,we discuss TrkB-postsynaptic density protein-95 coupling as a promising strategy to magnify brain-derived neurotrophic factor signaling towards the development of novel therapeutics for specific neurological disorders.A reduction of TrkB signaling has been observed in neurodegenerative disorders,such as Alzheimer's disease and Huntington's disease,and enhancement of postsynaptic density protein-95 association with TrkB signaling could mitigate the observed deficiency of neuronal connectivity in schizophrenia and depression.Treatment with brain-derived neurotrophic factor is problematic,due to poor pharmacokinetics,low brain penetration,and side effects resulting from activation of the p75 neurotrophin receptor or the truncated TrkB.T1 isoform.Although TrkB agonists and antibodies that activate TrkB are being intensively investigated,they cannot distinguish the multiple human TrkB splicing isoforms or cell type-specific functions.Targeting TrkB–postsynaptic density protein-95 coupling provides an alternative approach to specifically boost TrkB signaling at localized synaptic sites versus global stimulation that risks many adverse side effects. 展开更多
关键词 Angelman syndrome AUTISM brain-derived neurotrophic factor DEPRESSION neurodegenerative disorder neurodevelopmental disorder postsynaptic density protein-95 synaptic plasticity TRKB
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Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder
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作者 Wei Zhu 《World Journal of Clinical Cases》 SCIE 2025年第2期5-9,共5页
Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopme... Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD. 展开更多
关键词 Sotos syndrome Attention-deficit/hyperactivity disorder Genetic mutation Magnetic resonance imaging Wavelet fusion
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Persistent alterations in gray matter in COVID-19 patients experiencing sleep disturbances:a 3-month longitudinal study
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作者 Kaixuan Zhou Gaoxiong Duan +19 位作者 Ying Liu Bei Peng Xiaoyan Zhou Lixia Qin Lingyan Liang Yichen Wei Qingping Zhang Xiaocheng Li Haixia Qin Yinqi Lai Yian Lu Yan Zhang Jiazhu Huang Jinli Huang Yinfei Ouyang Bolin Bin Mingming Zhao Jun Liu Jianrong Yang Demao Deng 《Neural Regeneration Research》 SCIE CAS 2025年第10期3013-3024,共12页
Sleep disturbances are among the most prevalent neuropsychiatric symptoms in individuals who have recovered from severe acute respiratory syndrome coronavirus 2 infections.Previous studies have demonstrated abnormal b... Sleep disturbances are among the most prevalent neuropsychiatric symptoms in individuals who have recovered from severe acute respiratory syndrome coronavirus 2 infections.Previous studies have demonstrated abnormal brain structures in patients with sleep disturbances who have recovered from coronavirus disease 2019(COVID-19).However,neuroimaging studies on sleep disturbances caused by COVID-19 are scarce,and existing studies have primarily focused on the long-term effects of the virus,with minimal acute phase data.As a result,little is known about the pathophysiology of sleep disturbances in the acute phase of COVID-19.To address this issue,we designed a longitudinal study to investigate whether alterations in brain structure occur during the acute phase of infection,and verified the results using 3-month follow-up data.A total of 26 COVID-19 patients with sleep disturbances(aged 51.5±13.57 years,8 women and 18 men),27 COVID-19 patients without sleep disturbances(aged 47.33±15.98 years,9 women and 18 men),and 31 age-and gender-matched healthy controls(aged 49.19±17.51 years,9 women and 22 men)were included in this study.Eleven COVID-19 patients with sleep disturbances were included in a longitudinal analysis.We found that COVID-19 patients with sleep disturbances exhibited brain structural changes in almost all brain lobes.The cortical thicknesses of the left pars opercularis and left precuneus were significantly negatively correlated with Pittsburgh Sleep Quality Index scores.Additionally,we observed changes in the volume of the hippocampus and its subfield regions in COVID-19 patients compared with the healthy controls.The 3-month follow-up data revealed indices of altered cerebral structure(cortical thickness,cortical grey matter volume,and cortical surface area)in the frontal-parietal cortex compared with the baseline in COVID-19 patients with sleep disturbances.Our findings indicate that the sleep disturbances patients had altered morphology in the cortical and hippocampal structures during the acute phase of infection and persistent changes in cortical regions at 3 months post-infection.These data improve our understanding of the pathophysiology of sleep disturbances caused by COVID-19. 展开更多
关键词 brain structure cortical gray matter volume cortical surface area cortical thickness HIPPOCAMPUS magnetic resonance imaging Pittsburgh Sleep Quality Index severe acute respiratory syndrome coronavirus 2 infections sleep disturbances sub-cortical volume
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Restless head syndrome:A retrospective study
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作者 Sanjay Prakash Varoon Vadodaria +2 位作者 Niraj Chawda Chetsi S Shah Anurag Prakash 《World Journal of Methodology》 2025年第1期51-59,共9页
BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower limbs.RLS typically affects the legs.However,it can also affect several other body regions,such as th... BACKGROUND Restless legs syndrome(RLS)is characterized by an urge to move with an unpleasant sensation in the lower limbs.RLS typically affects the legs.However,it can also affect several other body regions,such as the arms,abdomen,face,neck,head,and genital area.There are only a few reports of the RLS variant affecting the head.AIM To assess the epidemiological,clinical,and other aspects of the RLS variant affecting the head.METHODS We conducted a retrospective study of 17 adult patients(>18 years)who met the RLS criteria and simultaneously experienced RLS-like symptoms in the head.RESULTS The median age at which symptoms appeared was 41.6 years.Males and females were equally affected(1.1:1).All 17 patients had uncomfortable sensations in the lower legs.Insomnia or disturbed sleep was the most common comorbidity(n=16,88.2%).However,headache was the most common presenting or primary symptom(n=10,70.5%).Dizziness or an abnormal sensation in the head was the second most common presenting symptom(5 patients,29.4%).Other presenting features were leg pain,backache,and generalized body pain.All patients responded favorably to dopaminergic medications.CONCLUSION If RLS-related unpleasant sensations and pain are felt in the head,they may be misinterpreted as headache,dizziness,or psychosomatic symptoms.RLS and headaches in a subset of patients may be two phenotypic manifestations of the same disorder. 展开更多
关键词 Restless legs syndrome Restless head syndrome DOPAMINE HEADACHE MIGRAINE Tension-type headache
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Validation of diagnostic algorithms for syndromic management of sexually transmitted diseases
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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
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