Results 61 to 70 of about 64,887 (307)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Antenatal care and weight gain in adolescent compared to adult pregnancy

International Journal of Preventive Medicine, 2020
Background: The aim of this study is to compare the antenatal care, body weight, and weight gain in pregnancy between the adolescent and adult pregnancies and, thus, examine the impact of adolescence on the studied parameters.
Sergije Markovic, Anis Cerovac, Elmedina Cerovac, Dragana Marković, Gordana Bogdanović, Suad Kunosić   +5 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

Maternal and perinatal outcomes in adolescents and women with advanced maternal age [PDF]

Revista de Saúde Pública
OBJECTIVE: To analyze the association between age extremes and maternal and perinatal outcomes in births in the state of Rio de Janeiro, Brazil. METHODS: Data from the Birth in Brazil II: National Survey on Abortion, Delivery, and Birth (2021–2023) were
Silvana Granado Nogueira da Gama, Arthur Orlando Corrêa Schilithz, Maria do Carmo Leal, Talita Teresa do Carmo, Mariza Miranda Theme-Filha, Denise Cavalcante de Barros, Glauce Cristine Ferreira Soares, Katrini Guidolini Martinelli   +7 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Análise metafórico-metonímica do processo de constituição do pensamento da saúde pública acerca da adolescente grávida: os anos 60 Metaphorical/metonymical analysis of public health thinking vis-à-vis teenage pregnancy in the 1960s

Cadernos de Saúde Pública, 1998
O presente artigo constitui-se num ensaio de análise de um momento histórico do processo de formação do pensamento da saúde pública acerca da adolescente grávida: os anos 60.
Alberto Olavo Advincula Reis
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

‘Adolescence’, pregnancy and abortion: constructing a threat of degeneration

, 2011
Why, despite evidence to the contrary, does the narrative of the negative consequences of teenage pregnancy, abortion and childbearing persist?
Macleod, Catriona I
core   +1 more source

Psychobiological consequences of stress in sensitive developmental stages and potential protective factors [PDF]

, 2014
The aim of the present dissertation is to contribute to the knowledge of the negative health consequences due to early stress experiences in humans and to investigate potential protective factors beneficial for health.
Völlmin, Annette
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source