Results 91 to 100 of about 10,838 (199)

Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review

Frontiers in Pediatrics
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder of mitochondrial oxidation of long-chain fatty acids (LCFA). Carnitine is the sole carrier of LCFA, which is transferred to the cellular mitochondria for β-oxidation; CPT ...
Y. Y. Tan, K. G. Tewani, K. G. Tewani, A. J. Anand, A. J. Anand, A. J. Anand, A. J. Anand, A. J. Anand, C. X. Kong, V. S. Rajadurai, V. S. Rajadurai, V. S. Rajadurai, V. S. Rajadurai, S. Chandran, S. Chandran, S. Chandran, S. Chandran, S. Chandran   +17 more
doaj   +1 more source

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
Nicholas A. Borja, Anuja Sule, Katie Ann McMullen, Aditi Dhir, Matthew D. Hall, Heather J. McCrea, Sakir Humayun Gultekin, Mustafa Tekin, Bradley Gampel   +8 more
wiley   +1 more source

Case Report: Congenital neurosyphilis presenting as post-hemorrhagic hydrocephalus in a preterm infant and a review of literature

Frontiers in Pediatrics
BackgroundCongenital syphilis (CS) remains a global public health concern, with rising incidence even in high-income countries. In Italy, a higher risk has been reported among primigravidae and younger mothers with late or missed prenatal screening ...
Domenico Umberto De Rose, Ludovica Martini, Maria Paola Ronchetti, Daniela Longo, Alessia Guarnera, Alessandra Santisi, Stefania Carrara, Alessandro De Benedictis, Venere Cortazzo, Carlo Federico Perno, Elvira Bonanno, Andrea Dotta, Cinzia Auriti   +12 more
doaj   +1 more source

SOFT MARKERS OF CHROMOSOMAL ANEUPLOIDIES

Journal of the Dow University of Health Sciences, 2009
Soft markers are transient, non specific signs seen during routine second trimester ultrasound in many fotel organ system, which may be present in normal foetuses but have been found in association with abnormal karyotypes as well.
Aqeela Mustufa
doaj  

Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations

Molecular Genetics & Genomic Medicine
Background Houge–Janssens syndrome type 2 (HJS2, OMIM 616362) is a rare neurodevelopmental disorder caused by pathogenic variants in PPP2R1A, typically characterized postnatally by hypotonia, developmental delay, intellectual disability, and distinctive ...
Jiancheng Hu, Jialun Pang, Lin Zhou, Haiyan Kuang, Wenxian Yu, Ying Peng   +5 more
doaj   +1 more source

[Secondary amenorrhea and cerebral ventriculomegaly].

Revue medicale de Liege, 2008
Cerebral ventriculomegaly and hydrocephalus are not frequently associated with endocrine disorders of the gonadotropic axis. The mechanism of this association is not clarified. The most probable cause is however a partial hypothalamic dysfunction. The examination of the few reported cases is in favour of this explanation. We present the case of a young
Habay, Nathalie, Foidart, Jean-Michel, Legros, Jean-Jacques, Schoenen, Jean, Mouchamps, M., Pintiaux, Axelle   +5 more
openaire   +2 more sources

2024–2025 Routine review of SMFM documents

Pregnancy, Volume 2, Issue 4, July 2026.
wiley   +1 more source

Lumbar puncture-induced negative-pressure hydrocephalus in a child with a ventriculoperitoneal shunt and ventricular obstruction: illustrative case. [PDF]

J Neurosurg Case Lessons
Hoffman BL, Chandran AS, Laughlin S, Ibrahim GM.   +3 more
europepmc   +1 more source

Dangling Choroid Plexus: An Early Sign of Fetal Anomaly. [PDF]

Diagnostics (Basel)
Arechvo A, Brusilov M, Hadjiiona A, Malinger G, Krajden Haratz K, Nicolaides KH.   +5 more
europepmc   +1 more source

Bridging Brain Science and Technology: How AI Is Shaping the Future of Neuroimaging in Autism. [PDF]

Diagnostics (Basel)
Băean ML, Nicu-Canareica O, Volovăț CC, Popa GA, Ciuc DM, Jinga V, Medar C.   +6 more
europepmc   +1 more source