The aim of this paper is to analyze and discuss an infrequent topic, i. e. rare conditions of gastrointestinal bleeding.Bleeding from gastrointestinal system is a common cause of acute abdomen and the most frequent causes are generally known.Clinicians, first of all emergency medicine staff, surgeons and internists (gastroenterology specialists), general practitioners, or less frequently other specialists, sometimes meet with less common causes of acute or chronic bleeding from gastrointestinal organs. It is quite important to be aware of the possibility the bleeding being caused by some rare condition, which is not so often met in medical practice, because of their great diagnostic and therapeutic problem. The low index of expectation of such a rare etiological unit could be the reason why destiny of such patients can be extremely problematic and why clinicians may fail at management of these patients (Fig. 4, Ref. 8).
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http://dx.doi.org/10.4149/bll_2012_042 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
View Article and Find Full Text PDFEye Vis (Lond)
January 2025
National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Background: Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown.
View Article and Find Full Text PDFBMC Endocr Disord
January 2025
Department of Endocrine and Metabolic Diseases, The First People's Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, No. 185, Juqian Street, Changzhou, 213000, Jiangsu, China.
Background: Microwave ablation is a new, minimally invasive technique for the treatment of thyroid nodules. Hyperthyroidism due to destructive thyroiditis is a known risk of microwave ablation, though it occurs in only a minority of cases. We report a rare case of a patient diagnosed with Graves' disease nearly six months after undergoing microwave ablation of a thyroid nodule.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Pediatrics, Huazhong University of Science and Technology Union Shenzhen Hospital, Shenzhen, China.
Background: Generalized lymphatic anomaly (GLA) is a rare congenital lymphatic malformation (LM) characterized by multiple infiltrating lymphangiomas in various tissues. Owing to its rarity, information on this disease is obtained mainly through case reports, leading to delayed diagnosis. In this study, we reported a case of generalized lymphatic anomaly in a pediatric patient manifesting as hemorrhagic pleural effusion.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Radiology, AIIMS Bibinagar, Hyderabad, India.
Homocystinuria is a disorder of methionine metabolism leading to abnormal accumulation of homocysteine and its metabolites in blood and urine. This condition presents with a wide range of cutaneous and systemic features. This case report focuses on the particular cutaneous finding of silvery hair in this patient and its examination under a microscope that reveals an unusual and not yet reported finding of melanin clumps.
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