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Upper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.
Orbit
January 2025
Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.
View Article and Find Full Text PDFFrontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.
Mol Biol Rep
January 2025
Department of Pathology and Laboratory Medicine, Baylor Scott and White Medical Center, Baylor College of Medicine, Temple, TX, USA.
Background: Brain intraparenchymal schwannoma is a rare clinical entity, generally curable with adequate resection.
Methods And Results: We describe a case in a male patient first presenting at 19 months of age, the youngest reported age for this lesion. It also appears to be the first case connected to a germline TSC2 p.
Locally advanced nasopharyngeal follicular dendritic cell sarcoma misdiagnosed as meningioma.
Discov Oncol
January 2025
Pathology Department, Salah Azeiz Institute, 1006, Tunis, Tunisia.
Follicular dendritic cell sarcoma (FDCS) is a rare malignancy, often challenging to diagnose due to its nonspecific presentation and resemblance to other neoplasms. This case highlights a locally advanced nasopharyngeal FDCS initially misdiagnosed as a meningioma, underscoring the importance of differential diagnosis in unusual tumor presentations. A 77-year-old patient presented with nasal obstruction for 3 months.
View Article and Find Full Text PDFTransformation of lung adenocarcinoma to small cell lung cancer following osimertinib treatment: a case report and literature review.
Anticancer Drugs
January 2025
Department of Thoracic Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) effectively treat EGFR-mutant lung adenocarcinoma, demonstrating initial efficacy but eventually leading to acquired resistance. Small cell transformation is a rare resistance mechanism to EGFR-TKIs in lung adenocarcinoma, which can complicate clinical diagnosis and treatment. We present a patient with lung adenocarcinoma who underwent a prior pneumonectomy and adjuvant chemotherapy and was treated with osimertinib after the recurrence of lung cancer.
View Article and Find Full Text PDFDoes the Diagnosis of Intraoperative Malignant Hyperthermia Require Case Termination? A Case Report.
A A Pract
January 2025
From the Department of Anesthesiology, New York Presbyterian Hospital, Weill Cornell Medical Center, New York, NY.
Malignant hyperthermia (MH) is a rare genetic disorder triggered by inhalational anesthetics or depolarizing neuromuscular blocking agents that carries significant mortality if not promptly treated. The following case presents a healthy 39-year-old man who developed MH several hours into an anesthetic exposure. Rapid intraoperative stabilization tactics that paralleled intensive care unit (ICU) level care allowed for continuation of operative management as opposed to case termination given the patient was at high risk for permanent nerve palsy if the case were to be aborted during dissection.
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