Results 91 to 100 of about 216,322 (317)

STUDY PROTOCOL: Improving newborn survival in rural southern Tanzania: a cluster-randomised trial to evaluate the impact of a scaleable package of interventions at community level with health system strengthening [PDF]

Child mortality has declined substantially in many countries including Tanzania, but newborn mortality remains high and around 3 million babies die every year in the first 28 days of life.
Marchant, T, Schellenberg, D, Cousens, S, Shamba, D, Borghi, J, Mkumbo, E, Hamisi, Y, Mshinda, H, Tanner, M, Hanson, C, Manzi, F, Penfold, S, Jaribu, J   +12 more
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Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Newhints Home Visits randomised controlled trial : impact on access to care for sick newborns and determinants, facilitators and barriers to this [PDF]

Approximately 3.3 million (41 %) of global child deaths occur among children in the first 28 days oflife (the neonatal period). Neonatal death reduction is imperative to achieving the 4th millennium development goal (MDG-4) which seeks to reduce ...
Manu, Alexander Ansah
core   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Evaluating the implementation of community volunteer assessment and referral of sick babies: lessons learned from the Ghana Newhints home visits cluster randomized controlled trial. [PDF]

, 2014
A World Health Organization (WHO)/United Nations Children's Fund (UNICEF) (2009) joint statement recommended home visits by community-based agents as a strategy to improve newborn survival, based on promising results from Asia.
Owusu-Agyei, S, Weobong, B, Soremekun, S, ten Asbroek, Augustinus, Owusu-Agyei, Seth, Kirkwood, Betty R., Hill, Zelee, Danso, Samuel, Kirkwood, BR, Gyan, Thomas, Kirkwood, Betty R, Tawiah-Agyemang, Charlotte, Ansah Manu, Alexander, Hill, Z, Soremekun, Seyi, Weobong, Benedict, Tawiah-Agyemang, C, Ansah Manu, A, Amenga-Etego, S, Danso, S, ten Asbroek, A, Amenga-Etego, Seeba, Gyan, T   +22 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

The persistently patent arterial duct in the premature infant [PDF]

, 2001
The presence of a persistently patent arterial duct is common in premature neonates and may be associated with high morbidity. Early accurate diagnosis, assessment of the significance of the left to right shunt and prompt treatment are required to ...
Gardiner, Helena Maria, Azzopardi, D.V., Karatza, Ageliki A.   +2 more
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Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns; a Report of a Work Group [PDF]

Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens.

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