Results 81 to 90 of about 58,544 (316)

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

Developmental Care: assistance of nurses from Neonatal Intensive Care Units

Revista Brasileira de Enfermagem
Objective: to analyze the Developmental Care in nursing care for Newborns in critical Neonatal Intensive Care Units. Method: a qualitative study with 11 nurses from Neonatal Intensive Care Units of a city in the State of São Paulo countryside, based on ...
Bruna de Souza Lima Marski, Beatriz Castanheira Facio, Sueli Mutsumi Tsukuda Ichisato, Patricia Carla de Souza Della Barba, Monika Wernet   +4 more
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

The use of mechanical ventilation protocols in Canadian neonatal intensive care units [PDF]

, 2015
Wissam Shalish, Guilherme Mendes Sant’ Anna   +1 more
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

Italian Journal of Pediatrics
Background Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable ...
Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi   +14 more
doaj   +1 more source

Burden and Outcomes of Birth Asphyxia in Neonates Admitted to the Neonatal Intensive Care Unit of The Tamale Teaching Hospital

, 2022
Alhassan Abdul‐Mumin, Kingsley Appiah Bimpong, Sheila Agyeiwaa Owusu, J.M. Kpiniong   +3 more
openalex   +2 more sources

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Desafios da comunicação em Unidade de Terapia Intensiva Neonatal para profissionais e usuários

Saúde em Debate
RESUMO Comunicar notícias com sensibilidade é competência dos profissionais de saúde. Para analisar falas de profissionais e familiares de internos da Unidade de Terapia Intensiva Neonatal de um Hospital Universitário, foi realizada pesquisa qualitativa ...
Carla Andréa Costa Alves de Campos, Luciano Bairros da Silva, Jefferson de Souza Bernardes, Andressa Laiany Cavalcante Soares, Sonia Maria Soares Ferreira   +4 more
doaj   +1 more source

Development of data dictionary for neonatal intensive care unit: advancement towards a better critical care unit [PDF]

, 2019
Harpreet Singh, Ravneet Kaur, Satish Saluja, Su Jin Cho, Avneet Kaur, Ashish Kumar Pandey, Shubham Gupta, Ritu Das, Praveen Kumar, Jonathan P. Palma, Gautam Yadav, Yao Sun   +11 more
openalex   +1 more source