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Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.
J Int Med Res
January 2025
Department of Cardiac Surgery, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, Gansu, China.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure.
View Article and Find Full Text PDFThe Role of Modern Radiological Procedures in Diagnosing Blunt Liver Injuries Manifested by Upper Gastrointestinal Bleeding.
J Clin Med
December 2024
Ist Department of Radiology and Diagnostics Imaging, Faculty of Medicine, Medical University of Lodz, Narutowicza 60, 90-136 Lodz, Poland.
Posttraumatic upper gastrointestinal bleeding (UGIB) is a very rare consequence of blunt liver trauma. It can be quite a diagnostic challenge for clinicians, as it can clinically manifest many weeks after the trauma or be scantily symptomatic. The following article would like to provide an analysis of clinical cases of 13 patients following blunt liver injuries, the main symptoms of which was bleeding into the gastrointestinal tract through the biliary tree.
View Article and Find Full Text PDFSystemic Lupus Erythematosus (SLE) Induced by ASIA Syndrome After the Aesthetic Medicine Procedures-A Case Report.
J Clin Med
December 2024
Department of Rheumatology, School of Medicine, Collegium Medicum, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland.
The autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a rare condition caused by an immune response associated with over-reactivity of the immune system, triggered by adjuvants. The most common adjuvants are aluminium salts but can also be bioimplants or infectious agents. It may lead to the development of various autoimmunologic diseases.
View Article and Find Full Text PDFKenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFHigh-Pressure Injection Injury of the Hand-A Rare but True Surgical Emergency.
J Clin Med
December 2024
Department of Morpho-Functional Sciences (II), Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700020 Iasi, Romania.
: The aim is to bring attention to the existence of a rare type of trauma of the hand, high-pressure injection injury, that appears to be minor with negligible signs and symptoms within the first hours after the accident, but in reality, produces significant tissue destruction with severe consequences. Recognizing this type of trauma by medical personnel, understanding the mechanisms involved, and knowing the etiological and prognostic factors can lead to early treatment initiation and avoid severe mutilating sequelae. : A retrospective study on 16 patients diagnosed with high-pressure injection injuries, including water, air, paint, paint mixed paint with thinner, petroleum jelly, and lime (washable paint containing calcium oxide).
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