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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFOral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
Spec Care Dentist
January 2025
Department of Oral and Maxillofacial Pathology, School of Dentistry, Universidade de Pernambuco, Recife, Pernambuco, Brazil.
Aims: Kallmann syndrome (KS) is a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism and varied clinical features. Despite its recognition, the oral and maxillofacial manifestations remain poorly understood. This study synthesized clinical aspects and management of KS-related oral and maxillofacial alterations.
View Article and Find Full Text PDFOral Blue Nevus of the Lingual Gingiva: A Case Report.
Cureus
January 2025
College of Dentistry, King Saud University, Riyadh, SAU.
Oral melanocytic nevi (OMN) are rare benign tumors originating from melanocytes with an unclear pathogenesis. The current theory suggests that OMN originate from dormant dendritic melanocytes that become enclosed in the dermis during the embryonic migration of melanoblasts - the precursors of melanocytes - from the neural crest to the epidermis. OMN can be congenital or acquired, with acquired nevi being more common.
View Article and Find Full Text PDFRole of endoscopic sequestrectomy in the treatment of therapy-resistant radiculopathy in patients with extreme obesity: technical note and case report.
J Spine Surg
December 2024
Department of Neurosurgery, General Hospital Bamberg, Bamberg, Germany.
Background: Surgical treatment of therapy-resistant radiculopathy associated with lumbar herniated discs in patients with extreme obesity is a challenge for neurosurgeons. In addition to technical problems in surgery due to the abundant subcutaneous adipose tissue and perioperative risks, there are significant anesthetic risks when anesthesia is performed with a patient in the prone position. A surgical procedure should preferably be minimally traumatic and quick with minimal risks of complications.
View Article and Find Full Text PDFAtypical Femur Fracture in a Teenager on Chronic Imatinib Therapy.
Case Rep Oncol Med
January 2025
Orthopaedic Surgery Department, University of Missouri, Columbia, Missouri, USA.
Atypical femoral fractures (AFFs) are rare fractures usually associated with medications that can ultimately alter bone metabolism. Imatinib, a drug prescribed for treatment of chronic myeloid leukemia (CML), has been associated with altered bone homeostasis, however, with unknown clinical significance. Here, we present the case of a 17-year-old female, with a diagnosis of CML undergoing chronic imatinib therapy, who developed an AFF treated successfully with prophylactic fixation with intramedullary nailing.
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