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| http://dx.doi.org/10.2340/00015555-3797 | DOI Listing |
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Prone Position Video Laryngoscopy for the Successful Intubation of Penetrating Back Injury: A Report of Two Cases.
Cureus
December 2024
Anesthesiology, All India Institute of Medical Sciences, New Delhi, IND.
Airway management in the prone position presents significant challenges and carries the risk of encountering a difficult airway situation. Here, we present two adults who sustained traumatic knife injuries to the back and required surgical intervention. Due to the potential life-threatening complications associated with dislodging the knife, traditional supine and lateral decubitus positions were not feasible for airway management.
View Article and Find Full Text PDFCase report: A novel germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Calmette-Guerin osteomyelitis.
Front Immunol
January 2025
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible to intracellular bacteria, the hallmark of which is Mendelian susceptibility to mycobacterial diseases (MSMDs) that are associated with increased risks of invasive disease by weakly virulent mycobacteria. We report a novel heterozygous missense mutation in exon 23 of the STAT1 gene (NM_007315.
View Article and Find Full Text PDFTravoprost Intracameral Implant in Eyes with Glaucoma or Ocular Hypertension: Early Short-Term Real-World Outcomes.
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Harvard Eye Associates, Laguna Hills, CA, USA.
Purpose: To assess real-world efficacy and safety of standalone travoprost intracameral implant (iDose TR) implantation by a US glaucoma surgeon in patients with open-angle glaucoma (OAG) or ocular hypertension (OHT).
Methods: This non-randomized, retrospective, unmasked, consecutive case series included all cases of standalone iDose TR implantation from a single US glaucoma surgeon since the product's approval by the US Food and Drug Administration (FDA) in December 2023. Patients were pseudophakic, had OAG or OHT, and had undergone prior SLT and/or bimatoprost intracameral implant injection (Durysta).
Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel Variants.
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Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFImpaired myocardial perfusion and myocardial inflammation of acute myopericarditis associated with COVID-19.
J Cardiol Cases
January 2025
Department of Cardiology, Sapporo Kojinkai Memorial Hospital, Sapporo, Japan.
Unlabelled: Myocarditis and pericarditis, or myopericarditis, is a rare, albeit life-threatening, cardiac complication of coronavirus disease 2019 (COVID-19). Although most patients recover from myocardial inflammation within weeks of the acute infection, there are concerns about acute and long-term myocardial injury. Coronary microvascular dysfunction and myocardial inflammation in the affected myocardium might be key factors in developing acute COVID-19-associated myopericarditis.
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