Results 211 to 220 of about 904,891 (304)

Perinatal Brain Injuries in Preterm Infants. [PDF]

Cells
Papazovska Cherepnalkovski A, Brajkovic L, Cogelja K, Milostic LK, Vidovic N, Renic A, Bulat D, Sabljic J, Batinovic E, Bucat M.   +9 more
europepmc   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Selective early medical treatment of the patent ductus arteriosus in extremely low gestational age infants: a pilot randomised controlled trial (SMART-PDA). [PDF]

Arch Dis Child Fetal Neonatal Ed
Mitra S, Hebert A, Castaldo MP, Disher T, El-Naggar W, Dhillon S, Alhassen Z, Koo J, Katheria AC, Hyderi A, Kumaran K, Ting J, Surak A, Larocque J, Pepper D, Hornberger L, Makoni M, Weisz DE, Jain A, Bacchini F, Cameron-Nola AJJ, Hatfield T, Dorling J, McNamara PJ, Thabane L.   +24 more
europepmc   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Correlation between physical growth and neurodevelopmental outcomes in full-term small for gestational age infants within the first 2 years of life. [PDF]

BMJ Paediatr Open
Lyu Y, Hu Y, Zheng Z, Jin W, Lin M.
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Early postnatal complications in small-for-gestational-age infants by gestational age and SGA severity: A retrospective cohort study. [PDF]

Medicine (Baltimore)
Fuwa K, Watanabe Y, Sato Y, Go H, Hara K, Aoki R, Hijikata M, Tanabe S, Aoki M, Okahashi A, Nagano N, Morioka I.   +11 more
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source