Results 71 to 80 of about 108,037 (279)
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
216 Jewish Hospital of St. Louis [PDF]
https://digitalcommons.wustl.edu/bjc_216/1047/thumbnail ...
core +4 more sources
A Rare Cause of Hyponatremia and Acute Kidney Injury: Leptospirosis
Leptospirosis is a zoonotic infection, caused by Leptospira interrogans. Clinical presentation may vary from asymptomatic infection to Weil disease characterized by multiple organ failure.
Mürşide Esra DÖLARSLAN +4 more
doaj
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 +8 more
wiley +1 more source
The author provides an overview of the history of male homosexuality in Europe. The literature on this subject reveals significant move from pederasty to effeminacy, and ultimately, to relations between men of a similar age.
Gert Hekma
doaj +1 more source
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 +9 more
wiley +1 more source
ABSTRACT Purpose Pediatric central nervous system (CNS) tumors often recur despite multimodality therapy. Although re‐irradiation (re‐RT) has historically been limited by concerns for severe late toxicities, modern techniques have renewed interest in this approach. Proton therapy provides dosimetric advantages that may enable curative re‐treatment with
Jin‐Ho Song +15 more
wiley +1 more source
Scrub Typhus Outbreak at Sagalee Block, Arunachal Pradesh, India, September 2023
Background: In August 2023, a scrub typhus “outbreak-alert” was generated by the Integrated Disease Surveillance Program from Sagalee block, Arunachal Pradesh, India.
Michi Monya +7 more
doaj +1 more source
Scrub typhus is an acute febrile illness caused by orientia tsutsugamushi, transmitted to humans by the bite of the larva of trombiculid mites. It causes a disseminated vasculitic and perivascular inflammatory lesions resulting in significant vascular ...
Amy G Rapsang, Prithwis Bhattacharyya
doaj +1 more source
216 Jewish Hospital of St. Louis [PDF]
https://digitalcommons.wustl.edu/bjc_216/1115/thumbnail ...
core +1 more source

