Results 81 to 90 of about 257,486 (334)

Identification of premature infant states in relation to introducing oral feeding [PDF]

, 2018
Background Recognizing oral readiness signs in infants is vital when planning the introduction of oral feeding. However, with premature infants, this can be difficult to gauge accurately because of immature development.
Harding, C., Hills, E., Mynard, A.
core   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

The Effects of Early Intervention on Parent-Premature Infant Interaction [PDF]

, 2014
Early intervention focusing on the interaction between premature infants and their parents as an attempt to increase their developmental outcomes has been evaluated in a number of studies.
Kipp, Ashley S
core   +1 more source

Brainstem auditory evoked responses in an equine patient population. Part II: foals. [PDF]

, 2014
BackgroundReports of the use of brainstem auditory evoked response (BAER) as a diagnostic modality in foals have been limited.Hypothesis/objectivesTo describe BAER findings and associated causes of hearing loss in foals.AnimalsStudy group 18 foals (15 ...
Aleman, M, Holliday, TA, Madigan, JE, Williams, DC   +3 more
core   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Pan-cancer analyses reveal the molecular and clinical characteristics of TET family members and suggests that TET3 maybe a potential therapeutic target

Frontiers in Pharmacology
The Ten-Eleven Translocation (TET) family genes are implicated in a wide array of biological functions across various human cancers. Nonetheless, there is a scarcity of studies that comprehensively analyze the correlation between TET family members and ...
Chunyan Zhang, Chunyan Zhang, Chunyan Zhang, Jie Zheng, Jin Liu, Yanxia Li, Yanxia Li, Guoqiang Xing, Shupeng Zhang, Hekai Chen, Jian Wang, Zhijiang Shao, Zhijiang Shao, Yongyuan Li, Yongyuan Li, Zhongmin Jiang, Yingzi Pan, Xiaozhi Liu, Xiaozhi Liu, Ping Xu, Ping Xu, Wenhan Wu, Wenhan Wu, Wenhan Wu, Wenhan Wu   +24 more
doaj   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Human 3D cellular model of hypoxic brain injury of prematurity. [PDF]

, 2019
Owing to recent medical and technological advances in neonatal care, infants born extremely premature have increased survival rates1,2. After birth, these infants are at high risk of hypoxic episodes because of lung immaturity, hypotension and lack of ...
Krasnoff, Rebecca, O'Hara, Ruth, Palmer, Theo D, Park, Jin-Young, Pașca, Anca M, Pașca, Sergiu P, Qi, Qihao, Revah, Omer, Shin, Hyun-Woo, Willsey, A Jeremy   +9 more
core  

First-Pass Meconium Samples from Healthy Term Vaginally-Delivered Neonates : An Analysis of the Microbiota [PDF]

, 2015
Acknowledgments The authors would like to thank the parents who consented to provide samples with limited notice at an emotional and stressful time. This work was supported entirely from personal donations to the neonatal endowments fund at Aberdeen ...
Berry, Susan H, Hansen, Richard, Hold, Georgina L, Khan, Shoaib, Martin, Jenny C, Munro, Michael J, Okpapi, Augusta, Scott, Karen P, Stevenson, Matthew   +8 more
core   +5 more sources

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