Results 91 to 100 of about 871,114 (289)

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Profile of Anemia Status in Adolescent Girls: Case Study at SMP Negeri 27 Padang

Andalas Obstetrics and Gynecology Journal
Introduction: The prevalence of anemia in adolescent girls worldwide is reported to be around 40-88%. Adolescent girls with anemia can affect work productivity or academic ability at school due to a lack of enthusiasm for learning and focus.
Ida Rahmah Burhan, Firdawati Firdawati, Muhammad Hasbi Asy Syukri, Fauziah Nur, Fikri Rahman, Rizqy Nurfathonah Putri, Asyifa Delfilaura, Didan Ariadapa Rahadi, Fitri Yeni Dharma   +8 more
doaj   +1 more source

Changes and determinants of modern contraceptive use among adolescent married girls in India

Discover Public Health
Background Unplanned pregnancies among Indian adolescents and young adults remain a public health challenge despite declines over two decades. Effective contraception is crucial to reducing these risks and associated health vulnerabilities.
Gita Naik, Dinabandhu Patra, Jagannath Behera   +2 more
doaj   +1 more source

Effect of school feeding program on dietary folate intake among school adolescent girls in Sidama region, southern Ethiopia

Frontiers in Nutrition
BackgroundEthiopia recently initiated a school feeding program (SFP) that provides nutritious meals to vulnerable students during school to combat malnutrition and improve their nutrition. However, there is limited evidence regarding the program’s impact
Amelo Bolka, Tafese Bosha, Samson Gebremedhin   +2 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Investigating anaemia vulnerability: determinants and changes in prevalence among adolescent girls in aspirational districts of India

Humanities & Social Sciences Communications
The World Health Organization identifies adolescent girls as particularly prone to anaemia due to reproductive changes, with challenges being more pronounced in India’s ‘Aspirational Districts’ (ADs), which suffer from poor education and health.
Subhojit Let, Mahashweta Chakrabarty, Seema Tiwari   +2 more
doaj   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

The magnitude of stunting and its determinants among late adolescent girls in East Africa: Multilevel binary logistics regression analysis.

PLoS ONE
BackgroundStunting poses a significant health risk to adolescent girls aged 15-19 in low- and middle-income countries, leading to lower education levels, reduced productivity, increased disease vulnerability, and intergenerational malnutrition.
Hiwot Altaye Asebe, Beminate Lemma Seifu, Kusse Urmale Mare, Bizunesh Fantahun Kase, Tsion Mulat Tebeje, Yordanose Sisay Asgedom, Abdu Hailu Shibeshi, Afewerk Alemu Lombebo, Kebede Gemeda Sabo, Bezawit Melak Fente, Zufan Alamrie Asmare   +10 more
doaj   +1 more source

Impact Of Educational Status of Parents on Nutritional Status of Adolescent Girls-A Cross Sectional Study

National Journal of Community Medicine, 2014
Background: Adolescent is a period where significant growth changes occur necessitating optimum nutritional requirement. During adolescence 20% of adult height attained and 50% of adult bone mass gained.
Sujit K Singh, Gagan Garg, Sanjeev Davey, Santosh Kumar Raghav, Khursheed Muzammil, Jai Vir Singh   +5 more
doaj