Cow's milk allergy skin tests: fresh milk, commercial extracts, or both? [PDF]
Lachover-Roth I +6 more
europepmc +1 more source
ABSTRACT This article examines the evolving role of organizational leadership amidst the rapid advancements in artificial intelligence (AI). It explores a broadly experienced and documented crisis in leadership, due in part to the disruptive nature of AI and emerging technology.
Rachel Wlodarsky, Davin Carr Chellman
wiley +1 more source
Skin Prick Tests in Patients with Chronic Urticaria
Acute or chronic urticaria is not a common manifestation of systemic disease. However it affects 15% of the population at least once during their lives. The most common causes of urticaria are allergic.
G. Ilonidis +6 more
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Tuberculin skin tests and interferon-γ release assays in the diagnosis of tuberculosis infection. [PDF]
Yan M, Campbell JR, Marras TK, Brode SK.
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Economic evaluation of novel Mycobacterium tuberculosis specific antigen-based skin tests for detection of TB infection: A modelling study. [PDF]
Goscé L +9 more
europepmc +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source

