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[Prolonged epistaxis symptom of nasopharynx carcinoma in a child].
Ugeskr Laeger
December 2024
Afdeling for Øre-Næse-Halskirurgi og Audiologi, Københavns Universitetshospital - Rigshospitalet.
This case report presents a ten-year-old boy with recurrent nosebleeds (epistaxis) over an extended period. In addition, he showed signs of slowed weight gain and developed symptoms such as snoring and sweating during sleep. Rhinoscopy revealed a mass in the nasopharynx, and further tests confirmed the presence of an Epstein-Barr Virus-positive nasopharyngeal carcinoma.
View Article and Find Full Text PDFCompound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.
Diagn Pathol
August 2024
Department of Pulmonology, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Machang compus, 225 Machang Road, Hexi District, Tianjin, 300074, China.
Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by variants of cystic fibrosis transmembrane conductance regulation (CFTR) gene. This report presents a case of a Chinese boy diagnosed with CF, attributed to the presence of two specific CFTR gene variations: 4056G > C (NM_000492.4) (p.
View Article and Find Full Text PDFClinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in Gene.
Clin Pract
May 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Tatton-Brown-Rahman syndrome is a rare autosomal dominant hereditary disease caused by pathogenic variants in the gene, which is an important participant in epigenetic regulation, especially during embryonic development, and is highly expressed in all tissues. The main features of the syndrome are high growth, macrocephaly, intellectual disability, and facial dysmorphic features. We present a clinical case of Tatton-Brown-Rahman syndrome in a ten-year-old boy with macrocephaly with learning difficulties, progressive eye impairment, and fatigue suspected by a deep learning-based diagnosis assistance system, Face2Gene.
View Article and Find Full Text PDFManagement of severe tetanus in Afghanistan: lessons from the field.
J Infect Dev Ctries
April 2024
Department of Anesthesia and Intensive Care, San Raffaele Scientific Institute (IRCCS), Milan, Italy.
Introduction: Tetanus is a rather rare disease in the Western countries thanks to widespread vaccination programs and the availability of prophylactics for patients with tetanus-prone injuries. The few cases that do occur are promptly managed in intensive care units (ICUs). However, tetanus is not so rare in developing countries, where access to a suitable level of care is limited.
View Article and Find Full Text PDFOSTEOCHONDRITIS DISSECANS OF THE HIP IN LEGG-CALVÉ-PERTHES DISEASE: CASE REPORT AND REVIEW.
Acta Ortop Bras
March 2024
Hospital Sírio Libanês de Brasília, Orthopedics Group, Brasília, GO, Brazil.
Introduction: Legg-Calvé-Perthes disease (LCPD) is the idiopathic osteonecrosis of the capital femoral epiphysis in children. It is a self-healing condition, and the morphology of the hip may vary according to the severity of the disease, among several other factors. The treatment focuses on attempts to prevent femoral head collapse, obtain functional hip motion recovery, and reduce pain.
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