Neonatal Screening
Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening
... The present investigation revealed that the 8-mutation panel studied has an extensive coverage rate (68%) for CFTR mutations in Minas Gerais. Previous studies carried out in Brazil using multimutation panels have ...
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Neonatal screening of hearing function by otoacustic emissions: A single center experience
... tematic neonatal screening of hearing function by otoacoustic emissions in the Clinical Center Kragujevac (Kragujevac, Ser- ...of neonatal hearing screening function, initiated systematically ...
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The role of neonatal screening in nutritional evolution in the first 12 months after diagnosis of cystic fibrosis
... The nutritional status in the diagnosis is directly associated with age that is carried out and at the be- ginning of the treatment. On the other hand, the evo- lution of the nutritional state in the first year after ...
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Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
... the neonatal screening was referred to molecular investigation on CYP21A2 ...by screening parents’ DNA showed that the father was a carrier for ...
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Fragilidades na avaliação diagnóstica do hipotireoidismo congênito na triagem neonatal: Uma revisão integrativa de literatura / Weaknesses in the diagnostic evaluation of congenital hypothyroidism in neonatal screening: An integrative literature review
... Latin American and Caribbean Literature on Health Sciences (LILACS) and International Literature on Health Sciences (MedLine). Texts were also searched at Nattional Institutes of Health - PubMed. The indexed health ...
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J. Pediatr. (Rio J.) vol.84 número4 suppl. en v84n4s0a12
... Traditionally, neonatal screening programs were restricted to diseases for which early detection and treatment offered medical benefits to those ...to screening using MS/MS is that it is used to ...
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Rev. Bras. Hematol. Hemoter. vol.32 número4 en a02v32n4
... The S gene originated in equatorial Africa (where it is present in up to 30% of the population) as a genetic modification, which is considered a positive adaptation, since it seems to protect heterozygous carriers (AS) ...
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Arq Bras Endocrinol Metab vol.54 número8
... Family history: the mother, a healthy 19-year-old woman, had an uneventful pregnancy and did not use medications. She reported a previous pregnancy 1 year and 3 months earlier, also uneventful. The father, a 35-year-old ...
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J. Pediatr. (Rio J.) vol.93 número6
... UNICAMP’S Neonatal Screening Reference Service (Servic ¸o de Referência em Triagem Neonatal [SRTN]) is currently responsible for neonatal screening, diagnosis, and compre- hensive care ...
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Rev. Bras. Hematol. Hemoter. vol.37 número1
... reporting of cases requiring hospital care. One of the causes of under-reporting is the difficulty of making a diagnosis. This problem was reduced with the implementation of the neonatal screening program, ...
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Rev. paul. pediatr. vol.33 número1
... the neonatal screening implementation, at the following times: birth, the first appointment with a medical specialist, at diagnosis and annually during each patient’s birthday ...
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Rev. Assoc. Med. Bras. vol.58 número4 en v58n4a17
... of neonatal screening for reducing morbimortality in chil- dren with congenital adrenal hyperplasia (CAH) is the main justiication for its imple- ...newborn screening for CAH, performed in the state ...
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Rev. Bras. Hematol. Hemoter. vol.33 número4
... Therefore, São Carlos has higher coverage rates for neonatal screening compared to the national average but is in line with most of the cities surveyed in São Paulo state. The city of São Carlos is located ...
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Dried blood spots as a practical and inexpensive source for human immunodeficiency virus and hepatitis C virus surveillance
... Passive surveillance of infectious diseases with a high percentage of asymptomatic cases or long incubation periods, such as acquired immunodeficiency syndrome (AIDS), does not reflect the current transmission dynamics. ...
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Rev. Soc. Bras. Med. Trop. vol.48 número2
... Thus, we were unable to collect urine from two-thirds of the participating babies, which, had not saliva samples been collected, would have resulted in eight cases of CMV infection left undetected. Therefore, saliva ...
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Rev. paul. pediatr. vol.35 número3
... prevention and the proper handling of these conditions occurred. he diiculties of the latter are inherent and frequently require the inal diagnosis to be conducted by molecular analysis. Serious considerations have been ...
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J. Bras. Patol. Med. Lab. vol.49 número6
... 2. CASTELLANI, C.et al. European best practice guidelines for cystic ibrosis neonatal screening. J Cyst Fibros, v. 8, p.153-73, 2009. 3. CENTER FOR DISEASE CONTROL AND PREVENTION. Newborn screening ...
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Rev. Assoc. Med. Bras. vol.61 número5
... • Population: records of all births at term, whose fe- tuses were in breech presentation (singleton preg- nancies with a gestational age > 37 weeks) were analyzed, including the period between 1989 and 2004. Between ...
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Rev. Bras. . vol.75 número2 en v75n2a13
... The data from this study are related to the first six months of the program. There is the need to update the data in the program’s sequence and check for the effective improvement on test rates in its many stages. The ...
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Screening tests for aphasia in patients with stroke: a systematic review J Neurol (2017)
... screening all titles and abstracts, 956 records were exclu- ded (Fig. 1). Sixty-five full-text articles were assessed for eligibility, of which 14 were selected. There were no arti- cles excluded because of the ...
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