Results 41 to 50 of about 12,798 (215)

First Case Report of an Infant with Aplasia Cutis Congenita of Scalp and Myelomeningocele

Brazilian Neurosurgery, 2016
Aplasia cutis congenita of scalp (ACCS) is a rare developmental anomaly. It has presented in children who have many concomitant anomalies. Large, deep defects can complicate by repeat local and systemic sepsis and life-threatening hemorrhage.
Angelo Silva Neto, Glena Marcelino, Cesar Garcia, Isadora Dantas, Isafran Silva, Emerson Oliveira   +5 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Early gait development in human infants: Plasticity and clinical applications [PDF]

, 2015
In this paper we focus on how a developmental perspective on plasticity in the control of human movement can promote early therapy and improve gait acquisition in infants with developmental disabilities.
Lee, Do Kyeong, Teulier, Caroline, Ulrich, Beverly D.   +2 more
core   +2 more sources

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Lethal Consequences in an Infant with Myelomeningocele Following an Inadvertent Treatment

Journal of Forensic Science and Medicine, 2016
Myelomeningocele (MMC) is a protrusion of spinal cord contents and meninges through a vertebral defect. Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice. In our case, a 3-month-old female was born with a lumbosacral cyst,
Xuemei Wu, Libing Yun, Min Liu, Xufu Yi
doaj   +1 more source

Total Energy Expenditure and Body Composition of Children with Developmental Disabilities [PDF]

, 2018
Background Obesity prevalence is increased in children with developmental disabilities, specifically in children with spina bifida and Down syndrome.
Bandini, Linda, Forseth, Bethany, Moosreiner, Andrea, Papanek, Paula E., Polfuss, Michele L., Sawin, Kathleen J., Schoeller, Dale A., Zvara, Kimberley   +7 more
core   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Upper Extremity Biomechanical Model for Evaluation of Pediatric Joint Demands during Wheelchair Mobility [PDF]

, 2012
Current methods for evaluating upper extremity (UE) dynamics during pediatric wheelchair use are limited. We propose a new model to characterize UE joint kinematics and kinetics during pediatric wheelchair mobility.
Graf, Adam, Harris, Gerald F., Krzak, Joseph, Paul, Alyssa J., Slavens, Brooke A., Vogel, Lawrence   +5 more
core   +1 more source

Spina bifida [PDF]

, 2015
Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral ...
Adzick, NS, Chitty, LS, Copp, AJ, Fletcher, JM, Holmbeck, GN, Shaw, GM   +5 more
core   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source