Results 81 to 90 of about 1,312,947 (193)
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Congenital Pulmonary Venolobar Syndrome: Neurodevelopmental Follow-up
, 2021 Congenital pulmonary venolobar syndrome or infantile scimitar syndrome is a rare congenital cardiopulmonary anomaly and has variable presentation, especially in the neonatal period.
Jemila James +3 more
core +1 more source
Artificial Organs, EarlyView.Here we investigated the development of a geometrically tunable blood for patients with single ventricle physiology. Two multiscale cardiovascular models were customized and implemented at timepoints spanning across the beginning and end of the shunt‐use period.
Ellen E. Garven +4 more
wiley +1 more source
Frequency, Burden and Pathogens of Acute Respiratory Illness in Very Preterm Infants During Infancy
Acta Paediatrica, EarlyView.ABSTRACT Aim To describe the frequency, burden, and pathogen profile of acute respiratory illnesses (ARIs) in very preterm infants during the first year after neonatal intensive care unit (NICU) discharge. Methods Very preterm infants were followed prospectively (August 2015–January 2017) with monthly assessments of symptoms, medication use, and ...
Patricia De Gouveia Belinelo +9 more
wiley +1 more source
Postnatal outcomes of sonographically suspected isolated congenital lung anomalies
Pediatric Surgery InternationalAbstract Introduction The aim was to evaluate the prenatal course, postnatal outcome and diagnostic accuracy of fetuses with a prenatal diagnosis of isolated congenital lung anomalies (iCLA). Methods A retrospective ...
Heinrich, Hanna +5 more
openaire +3 more sources
An uncommon congenital anomaly of the ribs
, 2016 Intrathoracic rib is an extremely rare congenital anomaly of the ribs. Here, we present the case of a 10-year-old boy with asthma who, on routine evaluation, was found to have this ...
Arjun Padmanabhan +1 more
core +1 more source
RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms
The FEBS Journal, EarlyView.RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon +4 more
wiley +1 more source
Pulmonary Aplasia with Unusual Associations in a Woman
Iranian Journal of Medical Sciences, 2014 Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia.
Arshad Altaf Bachh +4 more
doaj
Congenital diaphragmatic hernia with hypoplastic lungs, heart, and additional anomalies
Journal of Dr. NTR University of Health Sciences, 2013 Congenital diaphragmatic hernia (CDH) is a common congenital anomaly that frequently occurs in conjunction with other major anomalies, including chromosomal abnormalities. Fryns syndrome (FS) is a lethal syndrome that most frequently features CDH as a cardinal feature in addition to pulmonary hypoplasia, coarse facies, distal digital hypoplasia, and ...
Maitrayee Roy +2 more
openaire +1 more source