Results 21 to 30 of about 112,890 (268)

Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel

The Korean Journal of Gastroenterology, 2021
Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes.
Sun Woo Park, Ji Hong Park, Hye Jeong Moon, Minsoo Shin, Jin Soo Moon, Jae Sung Ko   +5 more
doaj   +1 more source

Clinical and epidemiological characterization of newborns with necrotizing enterocolitis

ABCS Health Sciences, 2022
Introduction: Necrotizing enterocolitis (NEC) is a severe inflammatory disorder that can affect the whole gastrointestinal system, particularly the ileum, and is a major cause of morbidity in premature infants.
Ariane Mendonça Neves de França, Divanice Contim, Luiz Gustavo Sabino Borges, Juliana Reis Machado, Aline Cristina Souza da Silva, Rosana Rosa Miranda Corrêa   +5 more
doaj   +1 more source

Temporal trends and factors associated with live preterm births in Espírito Santo, 2012-2021 [PDF]

Revista Brasileira de Epidemiologia
Objective: To analyze the temporal trend of live premature births in the State of Espírito Santo (Brazil) between 2012 and 2022 and to identify associated factors.
Marcone Marques da Rocha, Laércio da Silva Paiva, Lara Bourguignon Lopes, Raiza Brito Cipriano, Lucca Tamara Alves Carretta, Fernando Rocha Oliveira   +5 more
doaj   +4 more sources

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

International Journal of Neonatal Screening, 2020
Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries ...
MariaAnna Messina, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli, Federica Raudino   +5 more
doaj   +1 more source

Transition: The Patient in a No-Man´s Land [PDF]

International Brazilian Journal of Urology
Introduction: The need for transition from pediatric to adult health services developed from better survival rates of congenital diseases. Quality of life, Independence, and health preservation are to be considered.
Lisieux Eyer de Jesus
doaj   +1 more source

Characterization of cyclic alternating pattern in infants with laryngomalacia [PDF]

Sleep Science
Objective: Cyclic alternanting pattern (CAP) has been considered a marker of sleep instability in children. The aim of this study was to evaluate the CAP in infants with laryngomalacia.
Laura Mendoza Cáceres, Ángel Daniel Santana Vargas, Gabriela Millán Rosas, Eduardo Barragán Pérez, Adrián Poblano, Rafael Santana Miranda   +5 more
doaj   +1 more source

Newborn hearing screening: Present scenario

Indian Journal of Community Medicine, 2015
In 2009 many countries of the world met to discuss newborn and infant hearing screening current issues and guiding principles for action under World Health Organization (WHO) banner, though most of the countries who had begun this work as universal ...
Vishwambhar Singh
doaj   +1 more source

Exanthematous Disease in Newborn Infants.

The KITAKANTO Medical Journal, 1999
生後1ヶ月未満で発疹を認め, かつ体温異常, CRP弱陽性, 血小板減少の3つの条件のいずれかを認めることを診断基準とした新生児期発疹性疾患症例20例について臨床的検討を行った.対象の在胎週数は29-40週, 出生体重は1,084-3,320gであった.血小板数が経過中15×104/μl以下となっていたのは19例であった.7例でCRPが1.0mg/dl以上に上昇していた.細菌培養ではメチシリン耐性黄色ブドウ球菌 (MRSA) が6例で咽頭もしくは便から分離された.ウイルス分離を行った18例中1例でコクサッキーB4型ウイルスが分離された.近年, 本疾患の原因としてMRSAが産生する toxic shock syndrome toxin 1 (TSST-1) が報告されているが ...
Maruyama, Kenichi, Koizumi, Takenobu
openaire   +2 more sources

Transient Neonatal Pustular Melanosis: A Benign Mimicker of Infection

Acta Médica Portuguesa
n/a.
João Pedro Valente, Luísa Castello-Branco Ribeiro, Teresa Campos   +2 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source