Results 231 to 240 of about 230,705 (317)

Ultrasound assessment of diaphragmatic function during weaning and after extubation in preterm newborns: brief report. [PDF]

Eur J Pediatr
Carvalho MGS, Tomiyama JN, Terra MA, Lanza FC.   +3 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Association of Umbilical Cord Blood P-Selectin and PTX3 Levels with Early-Onset Sepsis in Preterm Infants with Premature Rupture of Membranes. [PDF]

Int J Gen Med
Luo Y, Li M, Liu W, Xiu W.
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Procalcitonin-guided decision and antibiotic treatment duration in late onset sepsis of newborns: multicentre, randomised controlled trial (ProABIS). [PDF]

BMJ Med
Mitanchez D, Lacoste-Badie R, Flamant C, Beuchée A, Tourneux P, Mokhtari M, Jarreau PH, Tuffet S, Berard L, Rousseau A, Gras-Le Guen C, ProABIS Study Group.   +11 more
europepmc   +1 more source

Screening and Treatment of Newborns

, 1992
Clayton, Ellen Wright
core  

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Detection of fetal malnutrition at birth using clinical assessment of nutritional status (CAN) score and anthropometric indices and its associated risk factors among term newborns in southern Ethiopia: facility-based cross-sectional study. [PDF]

BMJ Open
Debere MK, Eromo NC, Hussen H.
europepmc   +1 more source

Medical Standards for Deformed Newborns

, 1974
Carney, Frederick S.
core  

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source