Results 321 to 330 of about 814,048 (346)

The Prevalence of Oral Anomalies Among Healthy Newborns at a Gynecological Obstetric Hospital in Quito, Ecuador: An Observational, Cross-Sectional Study. [PDF]

Dent J (Basel)
Vélez-León E, Guerrero E, Carrillo MO, Cabrera M, Tello G, Pinos P.   +5 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Born too soon: accelerating change to 2030 and beyond. [PDF]

Reprod Health
Lawn JE, Khosla R, Reid A, Langlois EV, Kinney M, Gupta G, Mollel D, Jacobsson B, Bizri ME, Gruending A, Ruysen H, Thompson K, Ashorn P, McDougall L, Fogstad H, Shafique F, Banerjee A.   +16 more
europepmc   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Newborn thermal care practices in two urban slums in southern Ghana: evidence from a concurrent mixed methods study. [PDF]

BMC Pregnancy Childbirth
Adimazoya EA, Ganle JK, Asampong E, Glozah F, Adongo PB.   +4 more
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Incidence and risk factors of early-onset neonatal infections in Butembo: case of Katwa Health Zone from January 2020 to December 2022. [PDF]

BMC Pediatr
Saasita A, Kaghoma B, Muyisa R, Tayivweka JM, Mughania T, Kaliremwira R, Ngike E, Vahamwiti P, Sabuni L.   +8 more
europepmc   +1 more source

Short-Term Results of Early Detection of Critical Congenital Heart Disease: The Peruvian Maternal Perinatal Experience. [PDF]

JACC Adv
Carhuayo-Chura J, Terpin-Ayvar FE, Bautista-Pariona A, Zila-Velasque JP, Velarde-Zegarra LS, Davila-Aliaga C, Bravo-Jaimes K.   +6 more
europepmc   +1 more source

Lipid metabolism dysregulation in umbilical cord plasma of newborns from mothers with preeclampsia is associated with neonatal physical parameters at birth. [PDF]

BMC Pediatr
Ding J, Xiao Y, Fu J, Huang Q, Ma Z, Zhang C, Wang Y, Liu G, Wu H, Yuan Y.   +9 more
europepmc   +1 more source

Using human-centered design to re-vision the emergency obstetric and newborn care framework: Insights from Bangladesh, Malawi and Senegal. [PDF]

PLOS Glob Public Health
Moreira I, Chodzaza E, Chowdhury ME, Dieng T, Khan R, Faye SLB, Afsana K, Kamanga M, Zimba CC, Potolani E, Ramsey K, Savage J, Freedman L, Warthin CM, Lobis S.   +14 more
europepmc   +1 more source