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SEROUS RETINAL DETACHMENT DUE TO CRYPTOCOCCOSIS IN AN IMMUNOCOMPETENT PATIENT.
Retin Cases Brief Rep
October 2024
Retina and Vitreous Department, Hospital Oftalmológico de Sorocaba, Sorocaba, Brazil.
Purpose: To report a case of bilateral ocular cryptococcosis in an immunocompetent patient without neurologic findings.
Methods: Case report.
Results: A 30-year-old healthy Caucasian man presented with painless blurred vision in the left eye.
Multidisciplinary Treatment of A Class III Patient With Giant Open Bite Secondary to Macroglossia.
J Craniofac Surg
October 2024
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Center of Orthognathic and TMJ Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan.
Skeletal Class III malocclusion deformity is one of the most common maxillofacial malocclusions in East Asia and is either due to maxillary retrusion, mandibular protrusion, or both. It could cause functional and aesthetic problems. This deformity could be attributed to either hereditary or environmental factors or both.
View Article and Find Full Text PDFSYNCHRONOUS COLON CANCER ASSOCIATED WITH IDIOPATHIC THROMBOCYTOPENIC PURPURA. CLINICAL CASE.
Probl Radiac Med Radiobiol
December 2024
State Institution «National Research Center for Radiation Medicine, Hematology and Oncology of the National Academy of Medical Sciences of Ukraine», 53 Yuriia Illienka Str., Kyiv, 04050, Ukraine.
We present а rare clinical case of successful surgical treatment - combined left-sided hemicolectomy and cecal resection for colon cancer of two locations in a patient with idiopathic thrombocytopenic purpura, which, in our opinion, is due to radiation exposure is presented. It is shown that the biological effects of long-term ionizing radiation on critical organs can have a diverse nature both in terms of the time of occurrence and in their structure, which requires an individual approach, the involvement of related specialists and the necessary medical preoperative preparation for precise planning of surgical intervention taking into account all possible risks.
View Article and Find Full Text PDFEfficacy of Combined Encorafenib and Binimetinib Treatment for Erdheim-Chester Disease Harboring Concurrent BRAF and KRAS Mutations: A Case Report.
Cancer Rep (Hoboken)
December 2024
Department of Hematology and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with diverse clinical manifestations, often associated with mutations in the mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway. BRAF and KRAS mutations, which are driver mutations of oncogenes, participate in the same signaling pathway (MAPK/ERK pathway) and are usually mutually exclusive. We report a case of ECD with concurrent BRAF and KRAS mutations treated using BRAF and MEK inhibitors.
View Article and Find Full Text PDFBrain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Neurogenetics
December 2024
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.
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