Results 71 to 80 of about 291,310 (259)
Neonatologie/Pädiatrie – Leitlinie Parenterale Ernährung, Kapitel 13 [PDF]
, 2009 There are special challenges in implementing parenteral nutrition (PN) in paediatric patients, which arises from the wide range of patients, ranging from extremely premature infants up to teenagers weighing up to and over 100 kg, and their varying ...
Bauer, Karl +7 more
core
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Implications of a NICU Perinatal Follow Through Program for the Primary Care Physician [PDF]
, 1990 Neonatal intensive care unit follow-through programs provide early evaluation information for the primary care physician. This article describes such data for 339 graduates of St Joseph\u27s Special Care Nursery, 78% of whom were preterm and 70% were of ...
Behee-Semler, Bonnie Jean +2 more
core +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report. [PDF]
AJP Rep, 2023 Uchi R +7 more
europepmc +1 more source
The evidence for the benefits from breast milk in the neurodevelopment of premature babies – a review of the recent literature [PDF]
, 2018 Introduction. The brain in preterm babies is usually not fully developed and therefore early post-term events can have long-lasting neurodevelopment and cognitive outcomes. It is known that cerebral white matter connectivity is important for later intact
Paduraru, Danuta Iulia
core +1 more source
Relationships of the very low birth weight infant microbiome with neurodevelopment at 2 and 4 years of age. [PDF]
Dev Psychobiol, 2022 Sarkar A +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source