Results 61 to 70 of about 72,472 (321)

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green, Laura Horsfall, Azam Saied   +2 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

JCRPE, 2019
Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels.
Şükran Poyrazoğlu, Vivian Hwa, Firdevs Baş, Andrew Dauber, Ron Rosenfeld, Feyza Darendeliler   +5 more
doaj   +1 more source

The role of urinary LH and FSH in the diagnosis of pubertal disorders

Indian Journal of Endocrinology and Metabolism, 2021
Background: Various hormonal parameters used to differentiate between different causes of pubertal disorders are invasive, cumbersome, and has variable sensitivity and specificity.
Manoranjan Tripathy, A K Baliarsinha, A K Choudhury, Upendra K Das   +3 more
doaj   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Toxicity of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in the developing male Wistar(Han) rat II: chronic dosing causes developmental delay [PDF]

, 2007
We have investigated whether fetal exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) causes defects in the male reproductive system of the rat, using chronically exposed rats to ensure continuous exposure of the fetus. 5-6 week old rats were exposed
Bell, David Robert, Clode, Sally, Fan, MingQi, Fernandes, Alwyn, Foster, Paul M D, Jiang, tao, Loizou, George, MacNicoll, Alan, Miller, Brian G, Rose, Martin, Tran, Lang, White, Shaun   +11 more
core   +1 more source

Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]

, 2010
Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique, Green-Golan, Liza, Leschek, Ellen, Merke, Deborah, Müller, Sven, Ng, Pamela, Sinaii, Ninet, VanRyzin, Carol   +7 more
core   +2 more sources

The anatomical knowledge of Namibian school children

Anatomical Sciences Education, EarlyView.
Abstract The public has limited knowledge of key organs and anatomical structures. The lack of anatomical knowledge and understanding can hinder time to access healthcare, quality of care, and treatment outcomes. The current study investigated the anatomical knowledge among Namibian children by comparing 8 school grades—4 to 12, which covers children ...
Adam M. Taylor, Lojandrie Kirsten, Luigi Sedda, Quenton Wessels   +3 more
wiley   +1 more source

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series

Journal of the Pakistan Medical Association
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This
Versha Rani Rai, Heeranand Rathore, Manisha Kumari, Mohsina Noor Ibrahim, Maira Riaz, Roshia Parveen   +5 more
doaj   +1 more source

Comparative Analysis of Violations of Physical and Sexual Development in Children and Adolescents (Boys) with Various Mass Lesions of the Hypothalamic-Pituitary Region

Mìžnarodnij Endokrinologìčnij Žurnal, 2013
In this paper, the authors analyze the results of the survey 29 adolescent boys with different mass lesions of the hypothalamic-pituitary region. It is established a variety of disorders of growth and development, such as growth retardation (20.6 ...
Yu.M. Urmanova, U.Kh. Mavlonov
doaj   +1 more source