Results 71 to 80 of about 14,270 (287)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Gendered representations of fatherhood in contemporary South African church imagery from three Afrikaans corporate churches

Verbum et Ecclesia, 2013
The South African secular media do not frequently portray men in parental roles; on the other hand, it seems that media and visual culture created by the Christian sector is more likely to engage with issues of fatherhood.
Leandra H. Koenig-Visagie, Jeanne van Eeden   +1 more
doaj   +1 more source

The interrelation of students’ ideas about fatherhood with gender, age and structure of valuable orientations

Образование и наука, 2020
Introduction. The relevance of the present research is determined by the need to create a system of measures to support and develop the institution of fatherhood, the formation of parental competence, effective models of paternal behaviour among modern ...
S. V. Merzlyakova, M. G. Golubeva, N. V. Bibarsova   +2 more
doaj   +1 more source

Antecedents and outcomes of young fatherhood: longitudinal evidence from the 1970 British Birth Cohort Study

, 2005
This paper uses data from the 1970 British Birth Cohort Study to examine who becomes a young father and the circumstances of teenage and younger fathers when they are age 30.
Stevenson, Jim, Berrington, Ann M., Cobos Hernandez, M. Isabel, Ingham, Roger   +3 more
core  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

European Dilemmas of the Biological versus Social Father: The Case of Estonia

Baltic Journal of Law & Politics, 2016
The current understandings and practices related to biological and social fatherhood raise a crucial legal question about which model of fatherhood determination should be adapted to contemporary society: the model of a biological or social father ...
Joamets Kristi, Kerikmäe Tanel
doaj   +1 more source

The Ohio Commission on Fatherhood

, 2019
Rev. 7/2019; Brochure; intended to be printed on one sheet, front and back, and folded in thirds; "JFS 08127 (Rev. 7/2019)"--Unnumbered page

core  

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Reaching out to fathers in Afro-Caribbean contexts: a case study review of best practices from the Fatherhood is Sacred program in native communities

Frontiers in Psychology
Historical trauma has played a significant role in the difficulties of fathers to fulfill their coparenting roles in Native American communities. This pattern is also true for men in Afro-Caribbean communities. Fatherhood programs developed by the Native
Suzette Hudson, Sean E. Brotherson
doaj   +1 more source