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http://dx.doi.org/10.1055/a-1886-3464 | DOI Listing |
J Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFBMC Ophthalmol
January 2025
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan, Dongcheng District, Beijing, 100730, China.
Background: Retinal pigment epithelium (RPE) tear is a well-known complication of RPE detachment and is typically associated with significant visual acuity decline. However, in this case, despite the occurrence of an RPE tear there was an unexpected improvement in visual acuity.
Case Presentation: A 68-year-old male presented with blurred vision in his right eye of a month's duration.
BMC Ophthalmol
January 2025
Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, USA.
Background: Cutaneous melanoma is the leading cause of death from cutaneous malignancy and tends to metastasize lymphatically and hematogenously to the lung, liver, brain, and bone; it is a rare source of metastatic disease to the eye. Herein we provide a case report of cutaneous melanoma metastatic to the ciliary body and choroid involving clinical examination, slit lamp photography, and B-scan ultrasonography.
Result: A 55-year-old female with known metastatic cutaneous melanoma presented with pain, a large ciliochoroidal mass, visual decline, and diffuse intraocular inflammation.
Int J Emerg Med
January 2025
Departamento de Cardiología, Fundación Valle del Lili, Carrera 98 No. 18 - 49, Cali, 760032, Colombia.
Background: Penetrating cardiac trauma is an entity with high pre and intrahospital mortality due to complications such as cardiac tamponade and massive hemothorax. A ventricular septal defect (VSD) occurs in 1-5% of cases and can present early or late. The management strategy for VSD resulting from penetrating cardiac trauma is uncertain.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Laboratory Medicine, Clinical Pathology and Genetics, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Vulvar cancer is a rare gynaecological disease that can be caused by infection with human papillomavirus (HPV). The mutational frequencies and landscape for HPV-associated and HPV-independent vulvar tumor development are supposedly two distinctly different pathways and more detailed knowledge on target biological mechanisms for individualized future treatments is needed. The study included formalin-fixed paraffin-embedded (FFPE) samples from 32 cancer patients (16 HPV-negative and 16 HPV-associated), treated in Örebro, Sweden from 1988 to 2008.
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