Results 51 to 60 of about 486,202 (294)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Infant mortality among US whites in the 19th century: New evidence from childhood sex ratios [PDF]

Demographic Research
BACKGROUND: Basic facts of infant mortality in the 19th-century United States are largely unknown due to a lack of data on births and infant deaths. Contradictory views have emerged from previous research.
Jesse McDevitt-Irwin, James R. Irwin
doaj   +1 more source

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

Assessing the impact of rising child poverty on the unprecedented rise in infant mortality in England, 2000–2017: time trend analysis

BMJ Open, 2019
Objective To determine whether there were inequalities in the sustained rise in infant mortality in England in recent years and the contribution of rising child poverty to these trends.Design This is an analysis of trends in infant mortality in local ...
Ben Barr, Clare Bambra, Eric T C Lai, Sophie Wickham, Margaret Whitehead, Tanith Rose, Paul Norman   +6 more
doaj   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

Implementing an Indigenous Research Methodology to Develop a Culturally Appropriate Survey and Yarning Protocol: Challenges With Retention of the Aboriginal Health, Ageing and Disability Workforce

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal staff play a vital part in improving culturally safe and effective services and supports for Aboriginal people. Research on the Aboriginal workforce helps advance a culturally safe environment for workers and Aboriginal people accessing health and community services. This study aims to identify the barriers and enablers to workforce
F. Talbot, J. Gilroy, J. Gwynn, K. Bulkeley, C. Alcorso, K. Gwynne, Rob Heard, Sarah Peter, A. Haines, M. Lincoln, B. Rambaldini   +10 more
wiley   +1 more source

Health capabilities and the determinants of infant mortality in Brazil, 2004–2015: an innovative methodological framework

BMC Public Health, 2021
Background Despite the implementation of a set of social and health policies, Brazil has experienced a slowdown in the decline of infant mortality, regional disparities and persistent high death levels, raising questions about the determinants of infant ...
Alexandre Bugelli, Roxane Borgès Da Silva, Ladislau Dowbor, Claude Sicotte   +3 more
doaj   +1 more source