Results 11 to 20 of about 691,594 (323)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Effects of pregnancy on neuromyelitis optica spectrum disorder and predictors of related attacks

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1918-1925, December 2022., 2022
Abstract Objective Our study aimed to investigate the influence of pregnancy on the course of neuromyelitis optica spectrum disorders (NMOSD) and to explore the independent predictors of pregnancy‐related attacks. Methods We performed a retrospective study of patients with NMOSD based on the Wingerchuk 2006 or the revised Wingerchuk 2015 criteria ...
Qin Du, Ziyan Shi, Hongxi Chen, Ying Zhang, Yuhan Qiu, Yanlin Lang, Lingyao Kong, Hongyu Zhou   +7 more
wiley   +1 more source

Percepções das mães com filhos internados em unidade de terapia intensiva neonatal [PDF]

Revista Enfermagem Digital Cuidado e Promoção da Saúde, 2021
Objective: to describe the feelings of mothers regarding their children in the neonatal intensive care unit. Method: qualitative approach study of the descriptive type involving 10 mothers with children in the neonatal intensive care unit.
Rosa Caroline Mata Verçosa, Raíssa Fernanda Evangelista Pires dos Santos, Dayse Alves Cardoso, Ana Kelly Lourenço da Silva   +3 more
doaj   +1 more source

Tirosinemia neonatal

Iatreia, 1995
Mediante la técnica de Udenfriend y Cooper, se midieron los niveles de tirosina en la sangre del cordón de 26 prematuros y 31 niños de término, con el fin de comparar las concentraciones según la edad gestacional y detectar la presencia de la tirosinemia neonatal. Se encontró un caso de esta entidad en un niño de 31 semanas de edad gestacional, lo cual
Burgos Herrera, Luis Carlos, Manotas Cabarcas, Rafael de Jesús   +1 more
openaire   +3 more sources

Acute kidney injury in neonatal age

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Acute kidney injury (AKI) is a pathology characterized by a sudden decrease in kidney function that results in the accumulation of nitrogenous waste products and alteration of the regulation of extracellular fluid volume, electrolytes, and acid-base ...
Giovanni Ottonello, Angelica Dessì, Paola Neroni, Maria Elisabetta Trudu, Danila Manus, Vassilios Fanos   +5 more
doaj   +1 more source

Once we were bacteria… mitochondria to infinity and beyond

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Mitochondria, cytoplasmic organelles originated from endosymbiotic bacteria, can be metaphorically described using “Janus bifrons” image, due to their involvement in life, providing cellular energy and resulting essential even for stem cells, but playing
Flaminia Bardanzellu, Maria Cristina Pintus, Vassilios Fanos, Maria Antonietta Marcialis   +3 more
doaj   +1 more source

Neonatal hyperbilirubinemia [PDF]

Italian Journal of Pediatrics, 2014
Unconjugated hyperbilirubinemia is a common condition in the first week of postnatal life. Low levels of bilirubin exert antioxidant effects, but some neonates may develop very high levels of unconjugated bilirubin (UCB), with an increase of the unbound free fraction (Bf), able to diffuse through the blood brain barrier.
DAL BEN, MATTEO, GAZZIN, SILVIA, TIRIBELLI, CLAUDIO   +2 more
openaire   +4 more sources

Embryological development of the intestine and necrotizing enterocolitis

Journal of Pediatric and Neonatal Individualized Medicine, 2016
It is possible to distinguish two phases in the development and maturation of the intestine: intra-uterine and extra-uterine. Up until the 13th week of the embryological phase, a fetus’ development is not controlled by factors external to the alimentary
Anna De Magistris, Maria Antonietta Marcialis, Melania Puddu, Angelica Dessì, Roberta Irmesi, Elisabetta Coni, Vassilios Fanos   +6 more
doaj   +1 more source

Outcomes of Sick Neonates Transported to a Tertiary Care Hospital by a Trained Team, in Northern India [PDF]

Indian Journal of Neonatal Medicine and Research, 2021
Introduction: In developing countries, like ours, the major causes of neonatal mortality are Prematurity, Birth asphyxia and Sepsis. Although institutional delivery and in utero transport of newborn is the safest way to transport but it is difficult ...
Bijaylaxmi Behera, Babu Lal Meena
doaj   +1 more source

From the “old NEC” to the “new NECs”

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Necrotizing enterocolitis (NEC) is an acute inflammatory disease of the neonatal intestine that strikes in 1 of 1,000 live births. Its etiology is unknown.
Melania Puddu, Maria Antonietta Marcialis, Anna De Magistris, Roberta Irmesi, Elisabetta Coni, Luigi Mascia, Vassilios Fanos   +6 more
doaj   +1 more source