A 32-year-old male with CATCH22 syndrome presented with a high fever and productive cough after taking drugs for acute bronchitis, including (L)-carbocisteine. Chest radiography revealed ground-glass opacities in the bilateral lung fields. He had a history of similar pneumonia. Under the assumption of drug-induced pneumonia, or bacterial or viral pneumonia, all drugs including (L)-carbocisteine were discontinued, and antibiotics were started. A drug-induced lymphocyte stimulation test was positive only for (L)-carbocisteine. The only drug in common between this and the previous episode of pneumonia was (L)-carbocisteine. We thus concluded that this was a definite case of (L)-carbocisteine-induced pneumonia in a patient with CATCH22 syndrome.
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http://dx.doi.org/10.2169/internalmedicine.52.7882 | DOI Listing |
Rev Alerg Mex
December 2024
Departamento de Inmunología, Hospital Infantil de Especialidades de Chihuahua; Facultad de Medicina y Ciencias Biomédicas, Universidad Autónoma de Chihuahua.
Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.
View Article and Find Full Text PDFSci Rep
January 2025
Science For Life Laboratory, Department of Medicinal Chemistry, Uppsala University, Uppsala, Sweden.
A distinctive feature of both type 1 and type 2 diabetes is the waning of insulin-secreting beta cells in the pancreas. New methods for direct and specific targeting of the beta cells could provide platforms for delivery of pharmaceutical reagents. Imaging techniques such as Positron Emission Tomography (PET) rely on the efficient and specific delivery of imaging reagents, and could greatly improve our understanding of diabetes etiology as well as providing biomarkers for viable beta-cell mass in tissue, in both pancreas and in islet grafts.
View Article and Find Full Text PDFActa Paediatr
December 2024
Heart Centre, Turku University Hospital and University of Turku, Turku, Finland.
Aim: Studies on treating infections in children with 22q11.2 deletion syndrome (22q11.2DS) have been limited.
View Article and Find Full Text PDFJ Craniofac Surg
December 2024
Cleft and Craniofacial South Australia, Women's and Children's Hospital, Adelaide, SA, Australia.
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome or DiGeorge syndrome, is a complex genetic disorder associated with a spectrum of phenotypic features, including craniofacial anomalies, congenital heart defects, and neurodevelopmental challenges. Among the more concerning, though under-recognized, presentation in VCFS is carotid artery medialization-a finding that places patients at substantial risk for vascular injury during pharyngeal surgeries.
View Article and Find Full Text PDFFront Neurosci
November 2024
Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
DiGeorge syndrome, also referred as 22q11.2 deletion syndrome is a multisystem disorder associated with an increased risk of early-onset parkinsonism. In this case report, we present a case of a 47-year-old male patient with complex comorbidities and seizures.
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