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2015年巴西寨卡病毒感染与小头畸形之间可能存在的关联

上海预防医学 2017年第1期29卷 82-84页

作者： Lavinia Schuler-Faccini Erlane M.Ribeiro Ian M.L.Feitosa dafne d.g.horovitz denise P.Cavalcanti AndréPessoa Maria Juliana R.doriqui Joao Ivanildo Neri Joao Monteiro de Pina Neto Hector Y.C.Wanderley Mirlene Cernach Antonette S.El-Husny Marcos V.S.Pone Cassio L.C.Serao Maria Teresa V.Sanseverino 朱秋丽(译) 陆仁敏(校) Universidade Federal do Rio grande do Sul Brazil Hospital Infantil Albert Sabin FortalezaCEBrazil Universidade Federal de Pernambuco Brazil Fundaqao Oswaldo Cruz Rio de JaneiroBrazil University of Campinas Sao PauloBrazil Hospital Infantil Juvencio Mattos MaranhaoBrazil Universidade Potiguar Rio Grande do NorteBrazil University of Sao Paulo Ribeirao PretoBrazil Secretaria de Estado da Saude do Espirito Santo Brazil Universidade Federal de Sao Paulo Brazil Centro Universitario do Estado do Para Brazil Universidade do Estado do Rio de Janeiro Brazil Hospital de Clinicas de Porto Alegre Brazil Brazilian Medical genetics Society-Zika Embryopathy Task Force 不详

2015年初,通过伊蚊传播的寨卡病毒在登革热病毒流行地区巴西的东北部暴发,该病毒属于黄病毒属。2015年9月,寨卡病毒流行地区开始出现关于小头畸形患儿的报道,且报道数量呈现增加的趋势。与此同时,有2名妇女产前超声检查发现有胎儿畸形,... 详细信息

2015年初,通过伊蚊传播的寨卡病毒在登革热病毒流行地区巴西的东北部暴发,该病毒属于黄病毒属。2015年9月,寨卡病毒流行地区开始出现关于小头畸形患儿的报道,且报道数量呈现增加的趋势。与此同时,有2名妇女产前超声检查发现有胎儿畸形,在她们的羊水中也检测出寨卡病毒RNA。

关键词：小头畸形病毒感染报道数量登革热病毒产前超声检查胎儿畸形西寨黄病毒属病毒流行先天性异常

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Motor development as a Potential Marker to Monitor Infantile Pompe disease on Enzyme Replacement Therapy

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Open Journal of Clinical diagnostics 2017年第1期7卷 8-19页

作者： Paula de Almeida Thomazinho Fernanda Bertao Scalco Maria Lucia Costa de Oliveira dafne dain gandelman horovitz Juan Clinton Llerena Jr Fisioterapia Motora Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil departamento de Bioquimica Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Area de Centro de genetica Medica Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil

After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhgAA), survival of Infantile Pompe disease (IPd) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPd patient and its correlation with clinical conditions during the first 18 months on ERT with rhgAA. Methods: By longitudinal observational study of an IPd case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value ginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPd patients. Although gAA antibodies level remained above the recommended titers and fluctuating elevation of glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of glc4 appeared long after a transitory intercurrence. Conclusion: In an IPd case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies

关键词： Infantile Pompe disease Motor development Enzyme Replacement Therapy glc4 Biomarker

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Clinical and Technological dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe disease in Enzyme Replacement Therapy

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Open Journal of Clinical diagnostics 2019年第1期9卷 16-32页

作者： Paula de Almeida Thomazinho Eliana Pelissari Regina Celia Beltrao duarte Carolina Fishinger Moura de Souza Heloise Helena Siqueira Borges Maria da gloria Cruvinel Horta Liane de Rosso giuliani Ana Maria Martins Lilian Stewart dafne dain gandelman horovitz Juan Clinton Llerena Motor Physical Therapy Unit Fernandes Figueira National Institute/FIOCRUZRio de JaneiroBrazil Clinical Medical Unit Dr.Jeser Amarante Faria Children’s HospitalJoinvilleBrazil Pediatric Neurology Unit Santa Casa de Misericordia do Para FoundationBelemBrazil Sciences Medical genetics Unit Service of Information on Inborn Errors of MetabolismHospital de Clínicas de Porto AlegrePorto AlegreBrazil Clinical Medical Unit University of Cuiaba UNICCuiabaBrazil Santa Casa de Belo Horizonte Belo HorizonteBrazil genetics Unit Federal University of Mato Grosso do SulCampo GrandeBrazil Inborn Errors of Metabolism and genetics Unit Federal University of São PauloUNIFESPSão PauloBrazil Pediatric Intensive Care Unit State Institute of Cardiology of Rio de JaneiroIECACRio de JaneiroBrazil 1 Medical genetics Unit Fernandes Figueira National Institute of WomenChildren and Adolescent Health/FIOCRUZRio de JaneiroBrasil

Pompe disease (Pd) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (gAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human gAA for the early onset Pd patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset Pd (IOPd) under ERT. Methods: Brazilian patients diagnosed with IOPd under ERT were recruited through their physicians participating in the International Pompe disease Registry from 2009 to 2017. data were collected by an online survey. Results: 10 IOPd patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPd patients, with high technology dependence, especially after three years of age.

关键词： Motor development Child disability glycogen Storage disease Type II Enzyme Replacement Therapy

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IMMEdIATE EFFECT OF EXTERNAL ACUPOINT APPLICATION OF dIFFERENT HERBS ON JOINT ANd MUSCLE PAIN THROUgH CROSSINg METHOd

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Journal of Integrative Medicine 2014年第3期 298-298页

作者： Reginaldo Silva Filho Sergio Pavliuk Ellen Cristina da Silva dafne Pretel

Objective: To evaluate the effectiveness of the crossing method of point selection associated with the effects of external application of different substances listed as Chinese Materia ***: A total of 127 patients were recruited from EBRAMEC's regular ambulatory clinic after reading and signing the consenting *** subjects were divided in a randomized way into 4 different groups: A: Fuzi(Radix Aconiti Lateralis Preparata) 34; B: Baijiezi(Semen Sinapis) 31; C: Yanhusuo(Corydalis Rhizome) 38; d: control group with regular rice(Oryza Sativa) *** acupoints were selected using the crossing method, where points in one side of the body are used for the other side, based on these associations: shoulder-hip, elbow-knee, wrist-ankle, and *** selection of the acupoints, a piece of the Chinese Materia Medica according to each group was pressed and taped on the *** patient was evaluated by the Visual Analog Scale(VAS) before and after the ***: All subjects presented a better evaluation after treatment compared to before treatment, including control *** treatment groups presented significant improvement on *** statistic analysis showed that immediate improvement efficacy of each was as follows: A: 51.52%, B: 72.63%, C: 62.08% and d: 54.47%.Conclusion: Based on the results we can conclude that the classical crossing method for selecting acupoints is *** external application of Chinese Materia Medica on acupoints is a valid and efficient therapy and Baijiezi presented to be the most efficient one on this *** strongly suggest that larger studies with better methods should be conducted.

关键词： VAS IMMEdIATE EFFECT OF EXTERNAL ACUPOINT APPLICATION OF dIFFERENT HERBS ON JOINT ANd MUSCLE PAIN THROUgH CROSSINg METHOd

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