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| http://dx.doi.org/10.3399/bjgp16X688321 | DOI Listing |
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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFCongenital Bilateral Perisylvian Syndrome: A Rare Case.
Pediatr Neurol
December 2024
Department of Pediatrics, St. Francis Hospital Nsambya, Kampala, Uganda; Consultant Pediatric Neurologist, Department of Pediatrics, St. Francis Hospital Nsambya, Kampala, Uganda.
Congenital bilateral perisylvian syndrome (CBPS) is a rare neuronal migration disorder of cortical development characterized by polymicrogyria on magnetic resonance imaging. Features include pseudobulbar palsy, language and speech difficulties, epilepsy, and cognitive deficits. We discuss the management of the case of a five-year-old male with classical features of CBPS.
View Article and Find Full Text PDFA case report of bilateral persistent sciatic artery with thrombosis in a 47-year-old woman: A rare vascular anomaly.
Int J Surg Case Rep
December 2024
Medical Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:
Introduction: The persistent sciatic artery (PSA) is a rare congenital vascular anomaly that arises when the embryonic axial artery fails to regress, potentially leading to serious complications such as limb ischemia.
Case Presentation: We report the case of a 47-year-old woman with a history of essential hypertension and recent hormonal treatment for uterine fibroids. She developed acute limb ischemia due to bilateral PSA thrombosis, which was confirmed through comprehensive imaging.
We present a clinical observation of an 18-year-old female patient with congenital bronchiectasis combined with congenital cystic degeneration of the upper lobes of both lungs, Williams-Campbell syndrome, long-COVID, severe course. The patient was treated in infectious disease department (three times), with subsequent transfer to pulmonology department of Kursk Regional Multi-Purpose Clinical Hospital from 31.01.
View Article and Find Full Text PDFA comparison of the accuracy and feasibility of a low-cost mobile application versus higher-cost handheld 3D scanner for digital ear prosthetics.
ANZ J Surg
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Royal Prince Alfred Institute of Academic Surgery, Sydney Local Health District, Sydney, New South Wales, Australia.
Background: Facial prosthetics are an important means to rehabilitate patients with congenital or acquired facial defects. However, with a time-consuming manual workflow and workforce shortage, access to facial prosthetics is limited in Australia and worldwide, especially for rural and remote patients. Optical 3D scanning has been increasingly integrated in digitizing data.
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