Results 101 to 110 of about 178,068 (292)

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Association between pregnancy intention and completion of newborn and infant continuum of care in Sub-Saharan Africa: systematic review and meta-analysis

BMC Pediatrics
Background The newborn and infant continuum of care such as essential newborn care, early initiation and exclusive breastfeeding, and immunisation are highly recommended for improving the quality of life and survival of infants.
Birye Dessalegn Mekonnen, Vidanka Vasilevski, Ayele Geleto Bali, Linda Sweet   +3 more
doaj   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Anti-K1 (Kell) Antibody Expressed in Maternal Breastmilk: A Case Report of a Neonate with Multiple Intrauterine Transfusions and Postnatal Exposure to Kell Antibody in Maternal Breastmilk

Case Reports in Pediatrics, 2017
Hemolytic disease of the fetus and newborn is a common consideration in newborn medicine, especially among the jaundiced. Maternal breastmilk provides numerous benefits to the infant, including nutrition and immunologic factors.
Patrick DeMoss, Mohamed Asfour, Kelly Hersey   +2 more
doaj   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou, Hana Kubova, Stéphane Auvin, Massimo Mantegazza, Melissa Barker‐Haliski, Aristea S. Galanopoulou, Christopher A. Reid, Bridgette D. Semple   +7 more
wiley   +1 more source

Predicting Extubation Readiness in Extreme Preterm Infants based on Patterns of Breathing [PDF]

arXiv, 2018
Extremely preterm infants commonly require intubation and invasive mechanical ventilation after birth. While the duration of mechanical ventilation should be minimized in order to avoid complications, extubation failure is associated with increases in morbidities and mortality.
arxiv  

Towards Reliable, Automated General Movement Assessment for Perinatal Stroke Screening in Infants Using Wearable Accelerometers [PDF]

arXiv, 2019
Perinatal stroke (PS) is a serious condition that, if undetected and thus untreated, often leads to life-long disability, in particular Cerebral Palsy (CP). In clinical settings, Prechtl's General Movement Assessment (GMA) can be used to classify infant movements using a Gestalt approach, identifying infants at high risk of developing PS.
arxiv  

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source