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Importance of neonatal screening:A case study of sickle cell disease and cystic fibrosis coexistence

World Journal of Clinical Pediatrics 2025年第1期14卷 113-118页

作者： Nathalia Noyma Sampaio Magalhães Lucas Barra Mathiasi Daniela de Oliveira Werneck Rodrigues Department of Pediatrics Faculdade de Ciências Médicas e da Saúde de Juiz de ForaJuiz de Fora 36033-003Brazil Department of Internal Medicine Rede D'Or Rio de JaneiroRio de Janeiro 22270-010Brazil Department of Hematology Fundação HemominasJuiz de Fora 36010-560MGBrazil Department of Internal Medicine Universidade Presidente Antônio Carlos-Faculdade de Medicina Juiz de ForaJuiz de Fora 36010-560Minas GeraisBrazil

BACKGROUND neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other *** cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin *** is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface *** is crucial for early diagnosis and management,which ensures a better quality of *** To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature *** This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical *** authors identified only 5 cases of SCA associated with *** clinical trials or review articles were identified considering the rarity of the coexistence of these two *** Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive *** diagnosis of CF was confirmed by the Coulometry Sweat *** rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical *** This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

关键词： Sickle cell disease Sickle cell anemia Children Cystic fibrosis neonatal screening Case reports

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screening for retinopathy of prematurity:a report from upper Egypt

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International Journal of Ophthalmology(English edition) 2016年第2期9卷 262-265页

作者： Mahmoud M.Nassar Department of Ophthalmology Minia University Hospital

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.

关键词： retinopathy of prematurity incidence inEgypt neonatal screening

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Hypothyroidism in Childhood and Adolescence

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Open Journal of Endocrine and Metabolic Diseases 2016年第1期6卷 72-77页

作者： Deise Dutra Terra Carvalho Denise Rosso Tenório Wanderley Rocha Alberto Krayyem Arbex Division of Endocrinology IPEMED Medical School Sao Paulo Brazil Visiting Scientist Harvard T. H. Chan School of Public Health Harvard University Boston USA

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.

关键词： Thyroid Gland neonatal screening Hypothyroidism Congenital Hypothyroidism Juvenile Hypothyroidism Levothyroxine

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