Results 91 to 100 of about 1,654,437 (300)

A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

Case Reports in Obstetrics and Gynecology, 2014
The intracranial translucency (IT) is a recently introduced marker of open spina bifida (OSB). In this study, we describe a case of a fetus affected by Blake’s pouch cyst which showed alterations of BS/BSOB ratio at the first trimester screening.
Ambra Iuculano, Maria Angelica Zoppi, Rosa Maria Ibba, Giovanni Monni   +3 more
doaj   +1 more source

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis

International Journal of Women's Health
Shixin Chen,1,* Bin Liang,1,* Na Lin,1 Mian Pan,2 Li Li2 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical ...
Chen S, Liang B, Lin N, Pan M, Li L
doaj  

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

Turkish Journal of Hematology, 2020
Duran Canatan, Abdullah Çim, Serpil Delibaş, Emel Altunsoy, Serdar Ceylaner   +4 more
doaj   +1 more source

Reclassification of BRCA1 and BRCA2 Variants of Unknown Significance in a Turkish Cohort; A Single-Center, Retrospective Study

European Journal of Breast Health
Objective: Accurate classification of breast cancer susceptibility gene (BRCA)1/2 variants is important to delineate candidates for surgical or medical treatment.
Leyla Özer, Süleyman Aktuna, Evrim Ünsal   +2 more
doaj   +1 more source

Embryos as Patients? Medical Provider Duties in the Age of CRISPR/Cas9 [PDF]

, 2017
The CRISPR/Cas9 genome engineering platform is the first method of gene editing that could potentially be used to treat genetic disorders in human embryos. No past therapies, genetic or otherwise, have been intended or used to treat disorders in existent
Powell, G. Edward, III
core   +1 more source

Imaging correlates of molecular signatures in oligodendrogliomas. [PDF]

, 2004
Molecular subsets of oligodendroglioma behave in biologically distinct ways. Their locations in the brain, rates of growth, and responses to therapy differ with their genotypes. Retrospectively, we inquired whether allelic loss of chromosomal arms 1p and
Betensky, Rebecca A, Cairncross, J Gregory, Forsyth, Peter A, Kachur, Edward, Lee, Donald H, Louis, David N, Megyesi, Joseph F, Mizoguchi, Masahiro, Okada, Yoshifumi, Sasaki, Hikaru, Zlatescu, Magdalena C   +10 more
core   +2 more sources

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Defining Roles in Pediatric Palliative Care: Perspectives From Oncology and Palliative Care Teams

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Early integration of pediatric palliative care (PPC) is associated with improved symptom management, quality of life, and healthcare utilization for children with cancer. Despite this, variation persists in how PPC is understood, operationalized, and integrated within pediatric oncology programs. In particular, ambiguity surrounding
Leeat Granek, Lori Wiener, Stephanie Veldhuijzen van Zanten, Donna Johnston, Fyeza Hasan, Adam Rapoport, Nathasha Datoo, Kimberley Widger, Sumit Gupta, Karen Fergus, Anthony K. C. Chan, Alisha Kassam, Emily McCullogh, Dave Lysecki   +13 more
wiley   +1 more source

Comparative performance and health economic analysis of prenatal screening for down syndrome in Fujian province, China

Scientific Reports
To compare the performance of first-trimester serum screening (FTSS) and non-invasive prenatal testing (NIPT) in detecting fetal chromosomal aneuploidies trisomy 21 (T21) and trisomy 18 (T18), and to evaluate the cost-effectiveness and clinical ...
Lin Zheng, Nuolan Yin, Meiying Wang, Hailong Huang, Shuyu Zhang, Linjuan Su, Liangpu Xu   +6 more
doaj   +1 more source