Results 61 to 70 of about 604,020 (263)

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

BMC Cardiovascular Disorders
Background Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment.
Sarah Martin, Tina Jenewein, Christof Geisen, Stefanie Scheiper-Welling, Silke Kauferstein   +4 more
doaj   +1 more source

Language, Culture, and Cancer: Qualitative Insights Into Communication Disparities Among Spanish‐Speaking Caregivers of Children With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Latino children are projected to make up nearly one‐third of United States (US) children by 2060, and many of their caregivers speak Spanish. Prior survey research has documented communication difficulties for Spanish‐speaking caregivers of children with cancer, but contemporary qualitative data are limited.
Jenny Ruiz, Alejandra Curbelo‐Paz, Sonia Morales, Elizabeth Contreras, Amy Houtrow, Scott H. Maurer, Judy C. Chang   +6 more
wiley   +1 more source

Clinical Significance of FOXP3 Expression in BRCA1/2-Mutant Breast Cancer

Zhongliu Fangzhi Yanjiu
ObjectiveTo investigate the potential significance of FOXP3 expression in BRCA1/2-mutant breast cancer. MethodsA total of 48 BRCA mutation carriers (16 with BRCA1 and 32 with BRCA2) and 78 age-matched non-carriers were included in this study ...
Linxi CHEN, Li HU, Jiuan CHEN, Lu YAO, Juan ZHANG, Ye XU, Yuntao XIE   +6 more
doaj   +1 more source

Biphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.
Oded Gilad, Ohad Atia, Osama Tanous, Dafna Brik Simon, Michal Dvori, Miriam Cohen, Tracie A. Goldberg, Efraim Bilavsky, Joanne Yacobovich, Orna Steinberg‐Shemer   +9 more
wiley   +1 more source

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. [PDF]

, 1996
Inherited pheochromocytomas are often part of familial syndromes, especially multiple endocrine neoplasia type 2 (MEN 2), retinal cerebellar hemangioblastomatosis [von Hippel-Lindau (vHL) disease] or neurofibromatosis type 1.
Crossey, P.A., Höppner, W., Engelhardt, D., Maher, E.R., Ritter, M.M., Frilling, A., Mulligan, L., Ponder, B.A.J.   +7 more
core   +1 more source

FAMILIAL MEDITERRANEAN FEVER ASSOCIATED WITH ANKYLOSING SPONDYLITIS: A CASE REPORT

The Turkish Journal of Gastroenterology, 2006
Familial Mediterranean fever (FMF) is an autosomal recessive disease of unknown origin. A less common manifestation of joint involvement in FMF is spondylartropathy, which is almost always HLA B27 negative.
Şenay Özdolap, Selda Sarıkaya, Erol Aktunç   +2 more
doaj  

Outcome of Subsequent Pregnancies in Familial Molar Pregnancy [PDF]

International Journal of Fertility and Sterility, 2013
Familial recurrent molar pregnancy is an exceedingly rare condition, in which complete hydatidiform moles are mostly diploid but biparental in origin and the outcome of subsequent pregnancies is likely to be a hydatidiform mole or other type of ...
Masoumeh Fallahian, Forough Foroughi, Mohammad Vasei, Shahrzad Tavana, Maryam Ghanbary, Maryam Monajemzadeh, Anahita Tavana   +6 more
doaj  

Bone Mineral Density After Contemporary Treatment for Acute Lymphoblastic Leukaemia: A Matched Cross‐Sectional Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Reduced bone mineral density (BMD) has been reported in survivors of childhood and young adult acute lymphoblastic leukaemia (ALL); however, data from cohorts treated with contemporary protocols and including matched controls remain limited.
Karen Schow Jensen, Mette Tiedemann Skipper, Niels Holtum Birkebæk, Kjeld Schmiegelow, Thomas Leth Frandsen, Bente Langdahl, Rikke Beck Jensen, Asger Roer Pedersen, Christian Mølgaard, Liv Andrés‐Jensen, Birgitte Klug Albertsen   +10 more
wiley   +1 more source

Skrining Sistematik terhadap Hiperkolesterolemia Familial pada Anak Berdasarkan Kriteria MedPed, Simon Brome Register Register dan Dutch Lipid Clinic

Sari Pediatri, 2016
Latar belakang. Hiperkolesterolemia familial (HF) merupakan kelainan genetik tersering penyebab terjadinya penyakit jantung koroner/aterosklerosis.
Titis Prawitasari, Sudigdo Sastroasmoro, Damayanti R. Sjarif   +2 more
doaj   +1 more source

Parents of Youth With Cancer Report on Their Psychosocial Care: iSTEPPP Survey Finds Alignment and Gaps With Standards

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Standards for Psychosocial Care for Children with Cancer and Their Families guide the provision of comprehensive psychosocial care. Parallel to research characterizing implementation of the Standards from the perspective of providers, this study examines implementation of the Standards from the perspective of parents of youth ...
Emily M. Pariseau, Kimberly Buff, Michele A. Scialla, Kimberly S. Canter, Lori Wiener, Victoria Sardi‐Brown, Julia B. Tager, Kamyar Arasteh, Anne E. Kazak   +8 more
wiley   +1 more source