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A Case of Pulmonary Sarcoidosis With Multiple Endobronchial Polypoid Structures and Partial Airway Obstruction.
J Investig Med High Impact Case Rep
January 2025
St. Joseph's University Medical Center, Paterson, NJ, USA.
We present a case of a 42-year-old male with sarcoidosis manifesting as endobronchial mass-like lesions, a rare and atypical presentation of the disease. Sarcoidosis typically involves the respiratory system, but its occurrence as endobronchial polyps mimicking malignancy is uncommon. The diagnosis was confirmed through bronchoscopy and biopsy, revealing non-caseating granulomas.
View Article and Find Full Text PDFDeregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.
Hum Mol Genet
January 2025
Department of Human Genetics, Inselspital Bern, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland.
While de novo missense variants in the BTB domains of atypical RhoGTPase RHOBTB2 cause a severe developmental and epileptic encephalopathy, de novo missense variants in the GTPase domain or bi-allelic truncating variants are associated with more variable neurodevelopmental and seizure phenotypes. Apart from the observation of RHOBTB2 abundance resulting from BTB-domain variants and increased seizure susceptibility in Drosophila overexpressing RhoBTB, our knowledge on RHOBTB2-related pathomechanisms is limited. We now found enrichment for ion channels among the differentially expressed genes from RNA-Seq on fly heads overexpressing RhoBTB.
View Article and Find Full Text PDFA novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Hum Mol Genet
January 2025
Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.
View Article and Find Full Text PDFReplacing Theories with Evidence Around the Axes of the Eye in Intraocular Lens Selection: A Review for the Clinician.
Ophthalmol Ther
January 2025
Qvision, Department of Ophthalmology of VITHAS Almería Hospital, 04120, Almería, Spain.
The prevailing narrative in scientific literature has long overemphasized the role of ocular axes in intraocular lens (IOL) implantation, perpetuating misconceptions that have led to unnecessary exclusions of patients. Historical assumptions, coupled with inconsistent terminology and statistical inaccuracies, have muddled clinical decision-making. This review delves into these misconceptions, offering a critical reassessment of their relevance.
View Article and Find Full Text PDFThe membrane attack complex drives thrombotic microangiopathy in complement mediated atypical hemolytic uremic syndrome.
Kidney Int
January 2025
Complement Therapeutics Research Group, Newcastle University Translational and Clinical Research Institute, The Medical School, Newcastle-upon-Tyne, UK; National Renal Complement Therapeutics Centre, The Royal Victoria Infirmary, Newcastle-upon-Tyne, UK.
Introduction of complement (C) inhibition into clinical practice has revolutionized the treatment of patients with complement-mediated atypical hemolytic syndrome (aHUS). Our C3 mouse model, engineered around a gain of function point mutation in C3, is associated with complement mediated aHUS in man, allowing us to study the clinical disease in a preclinical model. Backcrossing our model onto C7 deficient and C5aR1 deficient mice enabled further determination of the roles of the C5a-C5aR1 axis and C5b-9 (the membrane attack complex) on kidney disease.
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