Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty
Am J Med Genet C Semin Med Genet. 2024 Aug 31:e32109. doi: 10.1002/ajmg.c.32109. Online ahead of print. ABSTRACT This piece narrates the journey of Maria …
Month: August 2024
Circles
Am J Med Genet C Semin Med Genet. 2024 Aug 31:e32105. doi: 10.1002/ajmg.c.32105. Online ahead of print. NO ABSTRACT PMID:39215585 | DOI:10.1002/ajmg.c.32105
Clinical application of phage immunoprecipitation sequencing to diagnose enterovirus D68 as the underlying etiology in a case of Gullain-Barré syndrome
J Infect Dis. 2024 Aug 31:jiae411. doi: 10.1093/infdis/jiae411. Online ahead of print. ABSTRACT Gullain-Barré syndrome (GBS) is an acute peripheral neuropathy often preceded by respiratory …
Promotion of endoplasmic reticulum retrotranslocation by overexpression of E3 ubiquitin-protein ligase synoviolin 1 reduces endoplasmic reticulum stress and preserves cone photoreceptors in cyclic nucleotide-gated channel deficiency
FASEB J. 2024 Sep 15;38(17):e70021. doi: 10.1096/fj.202400198R. ABSTRACT Cone photoreceptor cyclic nucleotide-gated (CNG) channels play an essential role in phototransduction and cellular Ca2+ homeostasis. Mutations …
Approach to the paediatric patient with suspected pheochromocytoma or paraganglioma versus neuroblastoma
J Clin Endocrinol Metab. 2024 Aug 31:dgae603. doi: 10.1210/clinem/dgae603. Online ahead of print. ABSTRACT Catecholamine producing tumours of childhood include neuroblastic tumours, phaeochromocytoma and paraganglioma …
Potential and limitations of the human mast cell activation test in amoxicillin hypersensitivity
Allergy. 2024 Aug 31. doi: 10.1111/all.16305. Online ahead of print. NO ABSTRACT PMID:39215537 | DOI:10.1111/all.16305
Clinicopathologic Characterization of Invasive Fungal Intestinal Infections in Pediatric Patients
Pediatr Dev Pathol. 2024 Aug 31:10935266241272564. doi: 10.1177/10935266241272564. Online ahead of print. ABSTRACT BACKGROUND: Invasive fungal intestinal infections are rare in pediatric patients with limited …
Intrafamilial Phenotypic Variability in SYNE1-Related Disorder
Am J Med Genet A. 2024 Aug 30:e63858. doi: 10.1002/ajmg.a.63858. Online ahead of print. NO ABSTRACT PMID:39215516 | DOI:10.1002/ajmg.a.63858
Saudi consensus guidance for the diagnosis and management of inflammatory bowel disease in children and adolescents
Saudi J Gastroenterol. 2024 Aug 30. doi: 10.4103/sjg.sjg_171_24. Online ahead of print. ABSTRACT The management of inflammatory bowel disease (IBD) in children and adolescents is …
Molecular analysis of cutaneous yeast isolates in the mycobiota of children with atopic dermatitis
Med Mycol. 2024 Aug 30:myae090. doi: 10.1093/mmy/myae090. Online ahead of print. ABSTRACT The skin of patients with atopic dermatitis (AD) has a greater diversity of …