ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
The Sopono cult and smallpox vaccinations in Lagos [PDF]
African Studies Center Working Paper No. 11INTRODUCTION: This paper examines the question of how African societies view conditions which Western society calls "disease," and how Africans respond to Western-oriented medical efforts to deal with "disease."
Morgan, Robert W.
core
Medical advice-seeking behaviors based on transaction cost theory
Background Given the global trend of aging societies, medical expenditure has hit record highs in many countries. Because medical advice-seeking behaviors can affect the health of whole societies, how members of a society make medical-related decisions ...
Shih Han Lin, Tom M. Y. Lin
doaj +1 more source
Severe allergic reactions after COVID-19 vaccination with the Pfizer/BioNTech vaccine in Great Britain and USA: Position statement of the German Allergy Societies: Medical Association of German Allergologists (AeDA), German Society for Allergology and Clinical Immunology (DGAKI) and Society for Pediatric Allergology and Environmental Medicine (GPA). [PDF]
Klimek L+28 more
europepmc +1 more source
European guidelines on cardiovascular disease prevention in clinical practice: executive summary.
Guidelines and Expert Consensus Documents summarize and evaluate all currently available evidence on a particular issue with the aim to assist physicians in selecting the best management strategies for a typical patient, suffering from a given condition,
I. Graham+24 more
semanticscholar +1 more source
Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim+4 more
wiley +1 more source
DIOPATHIC thrombocytopenic purpura (ITP, also I known as primary immune thrombocytopenic purpura) is a hematologic disorder for which appropriate diagnostic and treatment strategies are uncertain.
J. George+14 more
semanticscholar +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
Minding the Shop: The Case of Obstetrics Conferences [PDF]
We estimate the impact of annual obstetricians and gynecologists’ conferences on births in Australia and the United States. In both countries, the number of births drops by 1 to 4 percent during the days on which these conferences are held. We argue that
Andrew Leigh+2 more
core
Framing post-conflict societies: an analysis of the international pathologisation of Cambodia and the post-Yugoslav states [PDF]
The article examines the pathologisation of post-conflict societies through a comparison of the framing of the Cambodian and post-Yugoslav states. The notion of failed states fixes culpability for war on societies in question, rendering the domestic ...
Hughes, Caroline, Pupavac, Vanessa
core +2 more sources