Results 121 to 130 of about 41,241 (254)
ABSTRACT Aim To evaluate the changes in oxygenation and heart rate (HR) stability among very low birth weight (VLBW) premature infants supported by non‐invasive ventilation (NIV) during kangaroo mother care (KMC). Methods A prospective observational pilot study.
Jhonatan Harari+5 more
wiley +1 more source
Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism—Not to Be Confused With NF1
ABSTRACT We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential ...
Karina M. Forde+3 more
wiley +1 more source
Cutaneous Features of Adams‐Oliver Syndrome: Diagnosis, Differentiation, and Management
ABSTRACT Adams‐Oliver syndrome (AOS) is a rare genetic disorder primarily characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The condition presents with a range of cutaneous features, most notably ACC, cutis marmorata telangiectatica congenita, and nail anomalies.
Sabrina Yang, Joseph M. Lam
wiley +1 more source
Abstract Patent ductus arteriosus (PDA) is a congenital heart defect that can exist as an isolated lesion or as a component part of many other congenital heart defects. A PDA is essential for fetal development, but it should close shortly after birth. Ductal patency persisting beyond 24 hours after birth is considered to be a PDA.
De Andrade Ma, Carneiro Rd, Benchimol Ab
openaire +2 more sources
Abstract Purpose This proof‐of‐concept study introduces a novel, deep learning–based, parameter‐free, automatic slice‐tracking technique for continuous catheter tracking and visualization during MR‐guided cardiac catheterization. Methods The proposed sequence includes Calibration and Runtime modes.
Alexander Paul Neofytou+9 more
wiley +1 more source
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione+12 more
wiley +1 more source
ABSTRACT Acrocyanosis and gangrene are rare but serious manifestations of CAS caused by MP infection in children. These symptoms may lead to severe complications if not managed appropriately, highlighting the need for clinicians to remain vigilant and provide proper supportive care.
Bahareh Abtahi‐Naeini+4 more
wiley +1 more source
Patent Ductus Arteriosus [PDF]
James W. Brown, D. C. Muir
openaire +3 more sources
ABSTRACT Down syndrome is a risk factor for Hirschsprung's disease. However, the amniotic band sequence does not directly correlate. We present a patient with Down syndrome and associated Hirschsprung's disease, who exhibited findings consistent with amniotic band sequence.
Rosario Hernández‐Ramírez+4 more
wiley +1 more source
A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe+4 more
wiley +1 more source