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Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFDifferences in Clinical Outcomes and Patients' Characteristics Between Childhood and Adolescent Testicular Torsion.
Cureus
December 2024
Radiology, Saitama Children's Medical Center, Saitama, JPN.
Objectives: Testicular torsion, a condition requiring urgent intervention, can occur at any age and present with diverse symptoms. To the best of our knowledge, no study has evaluated the characteristics of testicular torsion in childhood, a less common age group. This study showed differences in patients' characteristics between childhood and adolescence and the variation across ages.
View Article and Find Full Text PDFTraumatic Posterior Sternoclavicular Joint Dislocation With a Five-Day Delayed Presentation: A Case Report.
Cureus
December 2024
Orthopedic Department, King Fahad Medical City, Riyadh, SAU.
Posterior sternoclavicular joint (SCJ) dislocation is a rare but potentially life-threatening injury due to its proximity to critical mediastinal structures. Early diagnosis and prompt management are essential to prevent severe complications such as vascular or respiratory compromise. We report a case of a 23-year-old male who presented to our emergency department five days after a high-energy motor vehicle accident with isolated, closed posterior dislocation of the SCJ.
View Article and Find Full Text PDFBackground Cervical cancer is the fourth most common cancer among women with significant global disparities in disease burden. In lower-resource settings, where routine screening is uncommon, delays in diagnosis and treatment contribute to morbidity and mortality. Understanding care delays may inform strategies to decrease time to treatment, improving patient outcomes.
View Article and Find Full Text PDFDetection of aberrant locomotor activity in a mouse model of lung cancer via home cage monitoring.
Front Oncol
December 2024
Department of Experimental Oncology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
Introduction: Lung cancer is the first cause of cancer death in the world, due to a delayed diagnosis and the absence of efficacy therapies. KRAS mutation occurs in 25% of all lung cancers and the concomitant mutations in LKB1 determine aggressive subtypes of these tumors. The improvement of therapeutical options for KRASG12C mutations has increased the possibility of treating these tumors, but resistance to these therapies has emerged.
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