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Screening for retinopathy of prematurity:a report from upper Egypt 被引量:3
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作者 Mahmoud M.Nassar 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2016年第2期262-265,共4页
AIM: To detect the incidence of retinopathy of prematurity (ROP) in a tertiary referral neonatal intensive care unit in upper Egypt and to describe the obstacles faced during implementing the screening protocol for... AIM: To detect the incidence of retinopathy of prematurity (ROP) in a tertiary referral neonatal intensive care unit in upper Egypt and to describe the obstacles faced during implementing the screening protocol for the first time. METHODS: Consecutive infants were enrolled at birth and screened for ROP. We used the UK ROP guideline (May 2008) for infant selection, follow up and treatment. Repeat examinations were performed until retinal vascularisation was complete. RESULTS: Fifty-two infants were enrolled: 24 males and 28 females. Mean gestational age was 31.3wk (±2.8 SD) and mean birth weight was 1234,6 g (±221.1 SD). Incidence of ROP was 36.5% (stages 1, 2, 3 and 4a were 9.6%, 9.6%, 15.4% and 1.9% respectively), no stages 4b or 5 were found in this series. Six infants (11.5%) died during screening without ROP, 25 infants (48.1%) were discharged from screening with retinal vascularisation reaching zone III, 5 infants (9.6%) were treated with indirect diode with or without additional cryotherapy and 16 infants (30.8%) were lost to follow up. In this series gestational age rather than birth weight was found significantly correlated and predictive (P〈0.05) with ROP stages. CONCLUSION: ROP in a single site in upper Egypt appears to have comparable incidence to other areas worldwide. The main screening obstacle was missing cases due to the absence of a national ROP screening protocol. 展开更多
关键词 retinopathy of prematurity incidence inEgypt neonatal screening
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淮北市听力筛查异常婴幼儿耳聋易感基因筛查特点分析 被引量:1
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作者 张玲 钟辉 化金金 《中国耳鼻咽喉头颈外科》 CSCD 2023年第7期461-463,共3页
目的 分析淮北市听力筛查异常婴幼儿耳聋易感基因的特点,为婴幼儿耳聋防治工作的开展提供参考。方法选取2018年4月~2023年1月在淮北市妇幼保健院进行听力筛查的新生儿为研究对象,采用自动听性脑干诱发电位反应(AABR)和诊断性畸变产物耳... 目的 分析淮北市听力筛查异常婴幼儿耳聋易感基因的特点,为婴幼儿耳聋防治工作的开展提供参考。方法选取2018年4月~2023年1月在淮北市妇幼保健院进行听力筛查的新生儿为研究对象,采用自动听性脑干诱发电位反应(AABR)和诊断性畸变产物耳声发射(DPOAE)进行复筛,对未通过AABR与DPOAE的婴幼儿进行遗传性聋相关基因检测(高通量测序法),包括GJB2、GJB3、SLC26A4和粒体12S rRNA,分析淮北市婴幼儿耳聋易感基因筛查特点。结果 共有67 150例婴幼儿进行听力筛查,初筛阳性率为12%,复筛阳性率为13.65%,未通过复筛者实施耳聋相关基因筛查,有84例检出常见遗传性聋基因突变位点,检出率为6.13%(84/1 100)。耳聋易感基因突变携带者听力损失发生率高于未携带者,差异有统计学意义(P<0.05)。4个常见遗传性聋基因中,以杂合突变最为常见。GJB2基因突变44例,以c.235delC位点突变为主;SLC26A4基因突变27例,以c.IVS7-2A>G位点突变为主;GJB3基因突变2例;线粒体12S rRNA 11例。GJB2基因与SLC26A4基因突变频率比较,GJB3基因与线粒体12S rRNA突变频率比较,差异均无统计学意义(P>0.05),GJB2基因和SLC26A4基因突变频率均高于GJB3基因突变和线粒体12S rRNA突变频率,差异有统计学意义(P<0.05)。结论 淮北市耳聋易感基因突变携带频率以GJB2基因c.235delC位点和SLC26A4基因c.IVS7-2A>G位点杂合突变最为常见,本地区耳聋基因筛查及遗传咨询工作开展过程中应着重注意GJB2基因与SLC26A4基因突变。 展开更多
关键词 耳聋(Deafness) 婴儿(Infant) 听力损失(Hearing Loss) 新生儿筛查(Neonatal screening) 易感基因(susceptible gene)
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Hypothyroidism in Childhood and Adolescence
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作者 Deise Dutra Terra Carvalho Denise Rosso Tenório Wanderley Rocha Alberto Krayyem Arbex 《Open Journal of Endocrine and Metabolic Diseases》 2016年第1期72-77,共6页
Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties ar... Juvenile hypothyroidism is an unfrequent form of hypothyroidism that affects children. If not diagnosed and treated properly, it may cause severe neurological disorders during growth. The most frequent difficulties are found in school performance, difficulties in concentration, hyperactivity or fatigue and damage on the onset of puberty. Starting levothyroxine as a drug of choice is essential, and it should be made according to the age and weight of the child. Laboratory tests for control should be requested periodically, along with a strict control of the child’s development and growth. The family-doctor relationship, along with a clear guidance on the importance of treatment, is critical to achieve a successful treatment. This article is a review about the main clinical features of hypothyroidism in childhood, especially in developing countries, providing key aspects of adherence and characteristics of its follow-up. 展开更多
关键词 Thyroid Gland Neonatal screening HYPOTHYROIDISM Congenital Hypothyroidism Juvenile Hypothyroidism LEVOTHYROXINE
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Evaluation of SON’OR^(█),a Medical Device for Provoked Otoacoustic Emissions and Brainstem Evoked Response Audiometry Made in Cameroon
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作者 Jean Espoir E.Vokwely Jean Valentin F.Fokouo +6 位作者 Guy Merlin Ngounou Dalil Asmaou Esthelle G.Minka Ngom Martin Kom Richard L.Njock G.Bengono Alexis Ndjolo 《Journal of Biomedical Science and Engineering》 2017年第8期376-389,共14页
Background: There is a huge gap in the audiological care in Africa by comparison with Western countries. Its main reason is the prohibitive cost of the medical devices used to screen or diagnose patients. A Cameroonia... Background: There is a huge gap in the audiological care in Africa by comparison with Western countries. Its main reason is the prohibitive cost of the medical devices used to screen or diagnose patients. A Cameroonian team tackled this problem by developing a medical device (SON’OR&copy;) which integrates a new instrumentation amplifier structure dedicated to perform otoacoustic emissions (OAE) and brainstem evoked response audiometry (BERA). The major technical challenges to perform OAE and BERA are the synchronization and the amplification of signals of very low amplitude. In this work, we emphasize on the general criteria necessary and indispensable to achieve an optimal amplification. The application of a novel instrumentation amplifier structure characterized by its optimized noise factor in the case of BERA and OEA emissions provides simulations and experimental results fully in line with forecasts. The design of SON’OR&copy;is based on general techniques of electronic instrumentation to which we associated the new instrumentation amplifier structure. Objective: To report the clinical evaluation of SON’OR&copy;as a screening and diagnostic tool. Methods: We conducted a cross sectional comparative study in Centre Hospitalier d’Essos in Yaoundé. We tested SON’OR&copy;on two sets of subjects, one for OAE with OTODYNAMICS Echoport ILO 292-II as gold standard and the other for BERA with NEUROSOFT NEURO AUDIO&copy;as gold standard. Each patient was tested with both devices and then we studied the inter device differences and calculated the sensitivity, specificity, positive predictive value and negative predictive value for each test. Results: We got 52 subjects for OEA and 51 for BERA testing. Sex ratio was 1 woman for 2 men in both groups. Mean age was 24.86(SD = 10.53) and 26.33 (10.55) for OAE and BERA groups respectively. SON’OR&copy;had good performances, showing sensitivity of 92.85%/95%, specificity of 96.77%/90.47%, positive predictive value of 95.21%/93.44% and negative predictive value of 95.23%/92.68% for OAE/ BERA respectively. Conclusion: SON’OR&copy;has good characteristics as a medical diagnostic tool. Furthermore its stability and performances in poor electrical conditions make it a robust device really suited for resource limited settings. 展开更多
关键词 SON’OR^(█) Brainstem Evoked Response Audiometry Otoacoustic Emissions Cameroon Neonatal Hearing screening
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Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China 被引量:4
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作者 叶军 刘哓青 +4 位作者 马燮琴 张雅芬 黄哓东 陈瑞冠 顾学范 《Chinese Medical Journal》 SCIE CAS CSCD 2002年第2期57-61,151-152,共7页
Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobi... Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients.Methods Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine(Phe) (100*!mg/kg) and tetrahydrobiopterin (BH4) (7.5*!mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up.Results Eleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4-6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment. Conclusions Our results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors. 展开更多
关键词 phenylketonuria · gene mutation · neonatal screening · tetrahydrobiopterin deficiency
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Pulse oximetry for screening critical congenital heart disease in newborns
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作者 陈翠莹 吴淑燕 +2 位作者 游可理 陈观娣 李志刚 《South China Journal of Cardiology》 CAS 2016年第2期55-60,66,共7页
Background Pulse oximetry screening(POS) has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease(CCHD).However,most neonates are discharged fr... Background Pulse oximetry screening(POS) has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease(CCHD).However,most neonates are discharged from the hospital without this evaluation in China.This study aimed at assessing the feasibility of POS for newborns in detecting CCHD in the department of obstetrics and neonatal intensive care unit(NICU).Methods POS was performed in 355 neonates born in the department of obstetrics or admitted to the NICU between January 2015 and June 2015.These neonates were divided into normal group,mild congenital heart disease group(MCHD) and CCHD group,according to the result of echocardiography or computerized tomography(CT).The gestational age,birth weight and arterial oxygen saturation(SpO_2) were compared among the three groups.The SpO_2 value and diagnosis time of the CCHD cases were classified and analyzed.Results The premature birth and low birth weight were the high risk factors of mild congenital heart disease.There was no difference(P 〉 0.05) in SpO_2 between the MCHD group and the normal group.Significant difference in the SpO_2 appeared between the CCHD group and the normal group(P 〈 0.05).Combination of POS and clinical examination can reduce the missing diagnosis rate in screening for CCHD.Conclusions POS incurs very low cost and risk of harm and is not required for special training,therefore,an effective way to identify CCHD in neonates. 展开更多
关键词 congenital screening gestational birth neonatal saturation inexpensive earlier discharged aimed
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