scholarly journals Congenital dysfibrinogenemia as a rare cause of recurrent gastrointestinal bleeding

2020 ◽  
Vol 92 (5) ◽  
pp. 1-5
Author(s):  
Weronika Lebowa ◽  
Jakub Kenig ◽  
Joanna Zdziarska

<b>Introduction: </b>Gastrointestinal bleeding is a common disease that surgeons encounter in everyday clinical practice. It is most often easy to diagnose and treat. However, rare causes of bleeding can lead to delayed diagnosis and ineffective treatment. Dysfibrinogenemia is a qualitative fibrinogen disorder in which functional fibrinogen level is reduced with normal antigenic level. <br><b> Case report:</b> Herein we present the case of a 59-year-old female with recurrent gastrointestinal bleeds, that turned out to be an unusual manifestation of congenital dysfibrinogenemia. Detailed imaging and endoscopic diagnostics revealed portal hypertension with a non-bleeding 1-cm gastrointestinal stromal tumor and multiple angiodysplastic lesions in close proximity.

1970 ◽  
Vol 4 (2) ◽  
pp. 85-95
Author(s):  
Eduardo Tadeu Ramos Almeida ◽  
Fábio Sergio Ferreira Resende Fonseca ◽  
Flávia Sala Pasquinelli

Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi diagnosticado em nosso serviço, e que evoluiu com as alterações cardiovasculares mais importantes descritos nessa síndrome, foi devidamente tratado e acompanhado. Conhecendo-se a etiologia de caráter hereditário autossômico dominante, investigamos e descrevemos também achados cardiovasculares em outros membros da família do paciente. Discussão: A Síndrome de Marfan pode afetar vários órgãos, incluindo o esqueleto, olhos, coração e vasos sanguíneos, sendo que os dois últimos são os que possuem maior impacto na sobrevida dos pacientes. As manifestações cardiovasculares incluem a doença valvar e o acometimento da aorta. O prolapso da válvula mitral é a anormalidade mais comum, podendo acometer até 100% dos pacientes. A dilatação da raiz da aorta, apesar de menos frequente pode evoluir para dissecção, representando, portanto, a maior causa de morbimortalidade. Conclusão: A Síndrome de Marfan, apesar de ser a doença do tecido conectivo mais comum, possui um diagnóstico difícil devido a manifestações inespecíficas que podem levar a um subdiagnóstico ou um diagnóstico tardio. Palavras-chave Síndrome de Marfan; Doenças do tecido conjuntivo; Doenças cardiovasculares. Introduction: Marfan syndrome (SMF) and a connective tissue disease with autosomal dominant inheritance with an incidence of 2-3 per 10,000 individuals. Case Report: We report a case of a patient with Marfan syndrome who was diagnosed in our service and evolved with the most important cardiovascular changes described in this syndrome, was properly treated and monitored. Knowing the etiology of autosomal dominant hereditary, we also describe and  investigated cardiovascular findings in other members of the patient's family. Discussion: The Marfan Syndrome can affect various organs, including the skeleton, eyes, heart and blood vessels, and the last two are the ones that have the greatest impact on patient survival. Cardiovascular manifestations include valvular disease and involvement of the aorta. The Mitral valve prolapse and the most common abnormality and may affect up to 100% of patients. The dilation of the aortic root, although less frequently can progress to dissection, representing therefore a major cause of morbidity and mortality. Conclusion: The Marfan syndrome, despite being the most common disease of the connective tissue, has a difficult to diagnose due to nonspecific manifestations that can lead to underdiagnosis or delayed diagnosis. Keywords: Marfan syndrome, connective tissue disease, cardiovascular Disease.


2017 ◽  
Vol 9 (1) ◽  
pp. 121-130 ◽  
Author(s):  
Rebecca Mergler ◽  
Andreas Kerstan ◽  
Enno Schmidt ◽  
Matthias Goebeler ◽  
Sandrine Benoit

Pemphigus vegetans (PVeg) is a rare variant of pemphigus vulgaris characterized by pustules and/or papillomatous vegetations, preferentially affecting intertriginous and periorificial areas. Exceptional manifestations may be misdiagnosed resulting in delayed diagnosis and treatment. Diagnosis is confirmed by immunofluorescence and detection of anti-desmoglein (Dsg) 3 and/or anti-Dsg1 antibodies. We herein report an unusual manifestation of PVeg. At the time of first presentation, lesions were restricted to the right ring finger’s tip. Although mucous membranes were initially not affected, high levels of anti-Dsg3 antibodies were detected while anti-Dsg1 and anti-desmocollin (Dsc) 1, 2, and 3 antibodies were absent. To compare our immunological findings with previous reports, all accessible Anglophone literature published since December 1988 was evaluated. We identified 52 patients suffering from PVeg, 7 of these showed anti-Dsg3 antibodies without any mucous membrane involvement. Notably, the detection of anti-Dsg1 and anti-Dsg3 antibodies does not necessarily correlate with the involvement of skin and/or mucous membranes. This might be due to more specific and complex antibody constellations in nonclassical or atypical pemphigus.


Author(s):  
V. Balendu Krishnan ◽  
Prashanth A. S.

Gouty Arthritis has now become a common disease condition which we deal in Ayurveda, but a proper treatment protocol is not followed in many cases. The case reported here was as a result of improper diet and lack of exercise which resulted in an increase serum uric acid level and joint inflammation. The treatment was given at IPD level diagnosing it as Gambhira Vatarakta with valid Chikitsa Siddhanta. This case report provides us a guidelines that even a chronic gouty arthritis with a very high serum uric acid can be treated as per Vataraktha Chikitsa Siddhanta in Ayurveda.


2021 ◽  
pp. 201010582110310
Author(s):  
Ernest Weisheng Ho ◽  
Eng Leonard ◽  
Lee Tih-Shih ◽  
Gregory James Meredith

Electroconvulsive therapy (ECT) is effective for mood disorders and schizophrenia. Thermal burns, while rare, are potentially sight and life threatening. The three elements necessary for a fire are often in close proximity during a session: an oxidiser (oxygen), an ignition source (faulty electrodes, poor contact with skin producing a spark) and fuel (hair, residual alcohol cleanser). This case report describes one such incident when a patient sustained a burn during ECT, with poor contact of electrode pad with skin, high impedance and an oxygen-rich environment possibly contributing. Given that ECT is conducted relatively frequently (once every 2–3 days) in a usual regimen, we make recommendations for safe application of electrode pads for temporal placement ECT.


Author(s):  
Mustafa Emin Canakci ◽  
Cengiz Ovali ◽  
İrem Aydogdu ◽  
Betul Tiryaki Bastug ◽  
Obaidullah Ahmadzai ◽  
...  

Abstract Atrioesophageal fistula (AEF) is an important complication of radiofrequency ablation (RFA). Delayed diagnosis is associated with increased morbidity and mortality. Despite the name “atrioesophageal fistula,” fistulas functionally act esophageal to atrial, which accounts for the neurologic and infectious complications. This report presents the management of a 60-year-old male patient who was admitted to the emergency department (ED) with AEF-caused gastrointestinal bleeding. The patient was operated urgently, but he had serious comorbidities and died after the operation. The aim of this case was to evaluate patients who underwent RFA, within 10 days to two months, carefully in the ED and to know the possible complications.


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