Results 131 to 140 of about 37,714 (296)

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

open access: yesBritish Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal   +10 more
wiley   +1 more source

COVID-19 Infection in Adrenal Tuberculosis Patients with Adrenal Insufficiency Who Complicated with Adrenal Crisis

open access: yesActa Medica Indonesiana
Adrenal insufficiency can increase the risk of infection. Respiratory infections play a role in the greater number of mortalities in patients with primary adrenal insufficiency.
Matdoan Rifkiah Aisyah   +3 more
doaj   +2 more sources

Shame as a mediator of the association of childhood emotional abuse with aversive cognitive perseveration in adults

open access: yesBritish Journal of Psychology, EarlyView.
Abstract Childhood emotional abuse (CEA) has been linked to response‐focused emotion regulation in adulthood. However, the underlying mechanisms remain unexplored. This pre‐registered study examined whether shame mediates the association between CEA history and aversive cognitive perseveration (ACP), including brooding rumination, experiential ...
Mohammadali Amini‐Tehrani   +4 more
wiley   +1 more source

Novel approaches for drug development against chronic primary pain: A systematic review

open access: yesBritish Journal of Pharmacology, EarlyView.
Abstract Chronic primary pain (CPP) persisting for more than 3 months, associated with significant emotional distress without any known underlying cause, is an unmet medical need. Traditional or adjuvant analgesics do not provide satisfactory pain relief for a great proportion of these patients.
Valéria Tékus   +5 more
wiley   +1 more source

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