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线粒体DNA突变与遗传性聋 被引量:12
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作者 王芳 刘星辰 郭玉芬 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2016年第4期405-409,共5页
遗传性聋是临床上最常见的先天性疾病之一,目前,全世界范围内约有3.6亿耳聋患者,其在发达国家新生儿中的发病率约为3‰[1]。耳聋可以由基因突变和环境因素(包括耳毒性的氨基糖苷类抗生素的应用)造成。遗传性聋分为非综合征型聋(non-s... 遗传性聋是临床上最常见的先天性疾病之一,目前,全世界范围内约有3.6亿耳聋患者,其在发达国家新生儿中的发病率约为3‰[1]。耳聋可以由基因突变和环境因素(包括耳毒性的氨基糖苷类抗生素的应用)造成。遗传性聋分为非综合征型聋(non-syndromic hearing loss,NSHL)和综合征型聋(syndromic hearing loss,SHL),线粒体DNA突变是造成遗传性聋的一个重要原因; 展开更多
关键词 遗传性聋 hearing syndromic DNA 非综合征型聋 听力损失 耳聋患者 基因突变 耳毒性聋 氨基糖苷类药物
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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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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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Polydactyly:Clinical and molecular manifestations 被引量:2
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作者 Zisis Kyriazis Panagoula Kollia +3 位作者 Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana 《World Journal of Orthopedics》 2023年第1期13-22,共10页
Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited h... Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited hand disorders.It can be divided into two major groups:Non-syndromic polydactyly or syndromic polydactyly.According to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial forms.Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.There are several forms of polydactyly,including hand and foot extra digit manifestations.The deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the right.The treatment is always surgical.Since the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of polydactyly.The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders.Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders. 展开更多
关键词 POLYDACTYLY Gene syndromic NON-syndromic Preaxial Postaxial
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线粒体DNA突变与遗传性耳聋 被引量:7
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作者 张雪溪 张杰 +3 位作者 陈敏 郝津生 杨扬 张亚梅 《中华耳科学杂志》 CSCD 北大核心 2015年第3期454-457,共4页
1概述 遗传性耳聋是指由于人类个体基因(包括核基因及线粒体基因)异常所致的耳聋。它可以分为非综合征型遗传性耳聋(non-syndromic hearing impair-ment)和综合征型遗传性耳聋(syndromic hearing im-pairment)两大类。综合征型... 1概述 遗传性耳聋是指由于人类个体基因(包括核基因及线粒体基因)异常所致的耳聋。它可以分为非综合征型遗传性耳聋(non-syndromic hearing impair-ment)和综合征型遗传性耳聋(syndromic hearing im-pairment)两大类。综合征型遗传性耳聋通常为染色体结构或功能异常引起的一类同时伴有多种其他临床表现或疾病的耳聋,这类患者约占遗传性耳聋的30%。 展开更多
关键词 遗传性耳聋 hearing syndromic 线粒体基因 染色体结构 impair 感音神经性聋 线粒体蛋白 DNA 耳聋症
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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 展开更多
关键词 Combination Therapy syndromic Treatment Abnormal Vaginal Discharge
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先天缺牙相关基因的研究进展 被引量:2
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作者 胡荣荣 于彦君 陈远萍 《海南医学》 CAS 2017年第18期3028-3030,共3页
先天缺牙属于牙齿发育异常中的数目异常,是一种临床常见疾病,对患者的咀嚼功能、美观、发音及心理健康都有着严重影响。根据是否伴发全身症状,可将先天缺牙分为综合征性先天缺牙与非综合征性先天缺牙。先天缺牙的致病因素包括环境因素... 先天缺牙属于牙齿发育异常中的数目异常,是一种临床常见疾病,对患者的咀嚼功能、美观、发音及心理健康都有着严重影响。根据是否伴发全身症状,可将先天缺牙分为综合征性先天缺牙与非综合征性先天缺牙。先天缺牙的致病因素包括环境因素和遗传因素。随着人类遗传学及分子生物学的迅猛发展,遗传因素受到越来越多的重视,发现新的相关基因以及新的突变位点已成为目前基因研究的一个主要方向。本文就近年来先天缺牙相关基因的研究进展做一综述。 展开更多
关键词 先天缺牙 综合征性 非综合征性 基因
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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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Enhanced Public Health Surveillance for the Sixth Worldwide Uchinanchu Festival Conducted by the Okinawa Prefectural Government, Japan 被引量:1
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作者 Munesada Yamakawa Miyuki Yamauchi +6 位作者 Minoru Nidaira Tomoyuki Azuma Tadashi Nakasone Fumie Ando Takahiro Hayamizu Saki Kinjo Yuuki Nakamura 《Journal of Biosciences and Medicines》 2017年第9期106-115,共10页
Objective: The Okinawa prefectural government conducted enhanced surveillance for the Sixth Worldwide Uchinanchu Festival, with participation of more than 5300 visitors from abroad, many of whom were Okinawan or of Ok... Objective: The Okinawa prefectural government conducted enhanced surveillance for the Sixth Worldwide Uchinanchu Festival, with participation of more than 5300 visitors from abroad, many of whom were Okinawan or of Okinawan descent, for early detection of Zika virus disease and other potential public health threat outbreaks. Method: Enhanced surveillance conducted from 12 October through 13 November involved four surveillance systems, (Nursery) School Absenteeism Surveillance system ((N)SASSy), Prescription Surveillance (PS), and Official Syndromic Surveillance (OSS), each of them operates routinely, in addition to case-based and sentinel surveillance under the Infectious Diseases Control Law as Official National Surveillance of Infectious Diseases (ONSID). This enhanced surveillance was conducted for analysis and evaluation, with intensive information sharing among concerned parties. Result: We performed the enhanced surveillance for 33 days from 12 October through 13 November. Information from enhanced surveillance was analyzed and evaluated, and eventually summarized as a daily report. There has been one rubella case at an elementary school in Okinawa City on 20 October and a measles case at an elementary school in Uruma City on 2 November. Those two cases were registered into (N)SASSy on a timely basis. The public health center investigated them quickly, and the measles case was denied later because symptoms did not satisfy with case definition. Discussion: We regard enhanced surveillance as useful to confirm events that might demand a public health response. Moreover, the related including public health centers or medical institutions confirmed the situation as valuable for the administrative structure. However, because almost all (nursery) schools or pharmacies are closed during successive holidays, outbreaks that occur on such days cannot be recognized on a timely basis. More sensitive surveillance for such days, with better preparations for ambulance transfer and at emergency departments in hospitals rema 展开更多
关键词 ENHANCED SURVEILLANCE syndromic SURVEILLANCE Mass GATHERING School ABSENTEEISM Prescription
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部分综合征型耳聋行人工耳蜗治疗的研究进展 被引量:2
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作者 陈善文 姚昆 邱建新 《中华耳科学杂志》 CSCD 北大核心 2022年第2期324-328,共5页
听力障碍是最常见的出生缺陷之一,是导致儿童残疾的主要原因,也是患儿就诊耳鼻喉科的常见原因。先天性感音神经性聋中超过半数的患者与遗传因素有关。其中大约三分之一的听力障碍患者因同时伴有其他特征性的表型而被称作综合征型。综合... 听力障碍是最常见的出生缺陷之一,是导致儿童残疾的主要原因,也是患儿就诊耳鼻喉科的常见原因。先天性感音神经性聋中超过半数的患者与遗传因素有关。其中大约三分之一的听力障碍患者因同时伴有其他特征性的表型而被称作综合征型。综合征型耳聋种类多、发生率低,相关人工耳蜗植入的研究报道较少。本文的目的是综述综合征型耳聋的常见原因,并描述这些特殊类型群体行人工耳蜗治疗的效果。 展开更多
关键词 听力障碍 综合征 人工耳蜗
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Etiology Profile of the Patients Implanted in the Cochlear Implant Program
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作者 Saroj Mali Divij Sonkhya +1 位作者 Mohnish Grover Nishi Sonkhya 《International Journal of Otolaryngology and Head & Neck Surgery》 2015年第3期265-272,共8页
Hearing loss in children constitutes a considerable handicap because it is an invisible disability and compromises optimal development and personal achievement of a child. The period from birth to 5 years of life is c... Hearing loss in children constitutes a considerable handicap because it is an invisible disability and compromises optimal development and personal achievement of a child. The period from birth to 5 years of life is critical for the development of speech and language;therefore, there is need for early identification and assessment of hearing loss and early rehabilitation in infants and children. Cochlear implants are the treatment of choice for patients with severe to profound sensorineural hearing loss. The goal of the present study was to investigate the different hearing impairment etiologies of patients implanted in cochlear implant program. The hospital based interventional study was conducted in the Department of Otorhinolaryngology, SMS Medical College, Jaipur from July 2011 to Dec. 2013. Present study included 60 prelingually deafened patients who attended ENT OPD and underwent cochlear implant. The most common cause of deafness in our study was acquired (56.66%), which predominantly included perinatal risk factors (64.70%), followed by prenatal risk factors (41.17%). The second common cause was hereditary (26.66%), followed by unknown (16.66%). Infection and ototoxic drug history were the most common risk factors in prenatal and postnatal group. The most common perinatal cause was low birth weight and prematurity. 展开更多
关键词 HEARING Impairment Cochlear Implant Congenital SENSORINEURAL HEARING LOSS FAMILIAL HEARING LOSS syndromic HEARING LOSS
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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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CLINICAL SIMULATED EXPERIMENT ON THE SYNDROMI STANDARDS OF PULMONARY SYSTEM DISEASES
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作者 Mulin Xu Qiouqin Wang(Hubei Academy of Traditional Chinese Medicine232 Luoyu Road, Wuhan, 430074, China) 《Chinese Journal of Biomedical Engineering(English Edition)》 1994年第2期80-88,共9页
CLINICALSIMULATEDEXPERIMENTONTHESYNDROMISTANDARDSOFPULMONARYSYSTEMDISEASESMulinXuQiouqinWang(HubeiAcademyofT... CLINICALSIMULATEDEXPERIMENTONTHESYNDROMISTANDARDSOFPULMONARYSYSTEMDISEASESMulinXuQiouqinWang(HubeiAcademyofTraditionalChinese... 展开更多
关键词 : PULMONARY diseasel syndromic STANDARDS SIMULATED EXPERIMENT
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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
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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 facilit 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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Situs invertus totalis in a child with chronic sinusitis
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作者 Chinawa Josephat Maduabuchi Ujunwa Fortune Amuche Eze Chukwubuike Uzodinma 《Open Journal of Pediatrics》 2013年第3期236-238,共3页
Background: Total situs inversus, (also called situs transversus or oppositus) known as mirror image dextrocardia, is characterized by a heart on the right side of the midline while the liver is on the left side. Situ... Background: Total situs inversus, (also called situs transversus or oppositus) known as mirror image dextrocardia, is characterized by a heart on the right side of the midline while the liver is on the left side. Situs Inversus Totalis (SIT) is a congenital anomaly characterized by complete transposition of abdominal and thoracic organs. Patients with this anomaly usually lead a normal life. We report a fourteen-year old Nigerian who was found to have dextrocardia with situs inversus totalis while presenting for treatment for a different problem. Conclusion: Situs inversus totalis is a rare finding. This report underscores the need for routine screening of children so that such congenital anomalies can be identified and complications that follow it averted timely. 展开更多
关键词 Situs Inversus Totalis syndromic RARE
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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 g 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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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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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 ta 展开更多
关键词 Immunity ASYMPTOMATIC RESERVOIR syndromic Surveillance EBOLA RESPONSE
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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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听力学教学中新生儿耳聋基因筛查咨询要点 被引量:1
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作者 刘海红 周怡 +1 位作者 郝津生 倪鑫 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2015年第4期400-402,共3页
流行病学研究提示50%~70%的听力障碍与遗传因素相关[1~5],即为遗传性聋(表1),其中,综合征型聋(syndromic hearing impairment,SHI)约占30%,非综合征型聋(non-syndromic hearing impairment,NSHI)约占70%。新生儿耳聋基因筛查可以... 流行病学研究提示50%~70%的听力障碍与遗传因素相关[1~5],即为遗传性聋(表1),其中,综合征型聋(syndromic hearing impairment,SHI)约占30%,非综合征型聋(non-syndromic hearing impairment,NSHI)约占70%。新生儿耳聋基因筛查可以预知与遗传相关的高危听障新生儿和迟发性听力损失, 展开更多
关键词 耳聋基因 迟发性听力损失 遗传性聋 hearing syndromic impairment 非综合征型聋 听力障碍 基因突变 耳毒性药物
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