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Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.
Br J Dermatol
January 2025
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFLesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke.
Brain
January 2025
Department of Neurology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Acoustic-phonetic perception refers to the ability to perceive and discriminate between speech sounds. Acquired impairment of acoustic-phonetic perception is known historically as "pure word deafness" and typically follows bilateral lesions of the cortical auditory system. The extent to which this deficit occurs after unilateral left hemisphere damage and the critical left hemisphere areas involved are not well defined.
View Article and Find Full Text PDFLung ultrasound for assessing disease progression in UIP and NSIP: a comparative study with HRCT and PFT/DLCO.
BMC Pulm Med
January 2025
Tehran Lung Research and Developmental Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: This study aims to compare Lung Ultrasound (LUS) findings with High-Resolution Computerized Tomography (HRCT) and Pulmonary Function Tests (PFTs) to detect the severity of lung involvement in patients with Usual Interstitial Pneumonia (UIP) and Non-Specific Interstitial Pneumonia (NSIP).
Methods: A cross-sectional study was conducted on 35 UIP and 30 NSIP patients at a referral hospital. All patients underwent LUS, HRCT, and PFT.
Prevalence of ESBL resistance genes and fecal carriage of multidrug-resistant Pseudomonas aeruginosa isolates from patients with chronic kidney disease at the Laquintinie Hospital in Douala, Littoral Region, Cameroon.
J Infect Public Health
January 2025
Department of Biochemistry, Faculty of Science, University of Dschang, Dschang, Cameroon. Electronic address:
Background: Pseudomonas aeruginosa is an opportunistic Gram-negative bacterium capable of causing severe infections in immunocompromised patients such as those suffering from chronic kidney disease (CKD). This study aimed to determine the resistance profile of Pseudomonas aeruginosa, and the prevalence of extended-spectrum β-lactamase (ESBL) resistance genes in patients with chronic kidney disease.
Methods: The prevalence of Pseudomonas aeruginosa was investigated in 458 patients, including 197 CKD patients and 261 patients suffering from gastrointestinal infections.
T1 mapping using MP2RAGE in degenerative cervical myelopathy: a longitudinal study.
Eur Spine J
January 2025
Aix-Marseille University, CNRS, CRMBM, Marseille, France.
Background And Purpose: Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord (SC) dysfunction. In routine clinical practice, SC changes are well depicted using conventional MRI, especially T2-weighted imaging. However, this modality usually fails to provide satisfactory clinico-radiological correlations.
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