Results 111 to 120 of about 141,433 (258)

Navigating Asparaginase Treatment for Patients With Acute Lymphoblastic Leukemia: US Consensus Panel Recommendations on the Role of Multidisciplinary Care

American Journal of Hematology, EarlyView.
ABSTRACT Asparaginase is a critical treatment component for patients with acute lymphoblastic leukemia/lymphoblastic lymphoma (ALL/LBL). However, the successful delivery of asparaginase‐based therapy remains challenging across care settings due to its complex administration, distinct toxicity profile, prolonged treatment duration, and the need for ...
Amir Ali, Grace Elsey, Kayla Fulginiti, Zanette Kanani‐Bradley, Holly R. Kubaney, Sandra Kurtin, Theresa Nguyen, Jennifer Turchina, Charlotte B. Wagner   +8 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Comparison of barriers effective nurse-patient communication in covid-19 and non-covid-19 wards

, 2023
Bakhshi H, Shariati MJ, Basirinezhad MH, Ebrahimi H.   +3 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Listening beyond words: cultural safety in nurse-patient communication with Bedouin patients in rural Saudi hospitals. [PDF]

BMC Nurs
Albarqi MN, Almulhim MY, Albana MA.
europepmc   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Changes in Nurse-Patient Communication Through Health Technologies and Nursing Practices to Recognize and Support Limited Digital Health Literacy: Qualitative Study. [PDF]

JMIR Nurs
Dijkman EM, Wentzel J, Edvardsson D, Doggen C, Drossaert CHC.   +4 more
europepmc   +1 more source

Nurse-Patient Communication During Postpartum Discharge Teaching: Protocol for a Mixed Methods Study. [PDF]

JMIR Res Protoc
Clark RRS, Sexton Topper P, Klaiman T, Jacobson R, Ngom N, Kasahun N, De La Cruz K, Tibbitt C, Hamm RF, Manojlovich M.   +9 more
europepmc   +1 more source