Results 131 to 140 of about 296,266 (336)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

The Impact of Small-for-gestational-age on Neonatal Outcome Among Very-low-birth-weight Infants

Pediatrics and Neonatology, 2015
This study aimed to evaluate the impact of small-for-gestational-age (SGA) on mortality and morbidity in very-low-birth-weight (VLBW) infants. Methods: We conducted a retrospective cohort study on VLBW infants registered at the Premature Baby Foundation ...
Li-Yi Tsai, Yi-Ling Chen, Kuo-Inn Tsou, Shu-Chi Mu   +3 more
doaj   +1 more source

Hypoglycemia in small-for-gestational-age neonates'.

The Turkish journal of pediatrics, 1997
In this prospective study, we investigated the frequency of hypoglycemia and the proper intervals for screening in small-for-gestational-age (SGA) neonates. We determined test-strip blood glucose values at two, three, six, 12, 24 and 48 hours of age in 25 SGA and 16 appropriate-for-gestational-age (AGA) infants who were born after 37 completed ...
O Karahasanoğlu, G Karatekin, R Köse, A Nuhoğlu   +3 more
openaire   +2 more sources

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Development and validation of super learner models to predict small and large for gestational age in the second generation

Scientific Reports
Prediction of small (SGA) and large for gestational age (LGA) using routinely collected antenatal data remains suboptimal, particularly among nulliparous women.
Mary M. Brown, Stefan Kuhle, Bruce Smith, Victoria M. Allen, Jennifer Payne, Christy G. Woolcott   +5 more
doaj   +1 more source

Acylated Ghrelin, Growth Hormone and IGF-1 Levels in the Cord Blood of Small for Gestational Age Newborns [PDF]

, 2016
Nastaran Khosravi, Farhad Abolhasan Choobdar, Nasrin Khalesi, Arash Bordbar, Bagher Larijani, Zahra Arab, Mitra Nourbakhsh   +6 more
openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Definition of critical skin defect and concepts of structural and functional repairs: Proposal and verification in a rat model

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the research process regarding skin defect repair using a rat model of skin defect. First, it assesses whether the barrier function of the skin is repaired. If the answer is “YES”, the study proceeds to focus on structural repair.
Cong Sun, Weihong Guo, Fang Liang, Rabia Javed, Weijian Hou, Xingdong Zhang, Qiang Ao   +6 more
wiley   +1 more source

Differences in catch-up growth and its relationship to nutritional status between SGA and AGA twins and singletons in the first year after birth: a prospective cohort study

Scientific Reports
To compare the difference between appropriate for gestational age (AGA) and small for gestational age (SGA) of singleton and twin in terms of catch-up growth (CUG) and nutritional status in the first year after birth through a prospective cohort study. A
Minghui Xiong, Ting Pan, Zhanzhan Zhang, Yuanfeng Zhong, Qian Chen, Yannan Wan, Lin Zhu, Li Chen, Xuan Zhang   +8 more
doaj   +1 more source

Identifying First-Trimester Risk Factors for SGA-LGA Using Weighted Inheritance Voting Ensemble Learning

Bioengineering
The classification of fetuses as Small for Gestational Age (SGA) and Large for Gestational Age (LGA) is a critical aspect of neonatal health assessment.
Sau Nguyen Van, Jinhui Cui, Yanling Wang, Hui Jiang, Feng Sha, Ye Li   +5 more
doaj   +1 more source