scholarly journals Childhood Peutz-Jeghers Syndrome: Diversity of Clinical Features and Complications, and Literature Review

1994 ◽  
Vol 8 (4) ◽  
pp. 253-256
Author(s):  
Mark R Oliver ◽  
R Brent Scott ◽  
Robin C Eccles ◽  
Cynthia Trevenen ◽  
Jonathon B Meddings ◽  
...  

This case report of a six-year-old child with Peutz-Jeghers syndrome illustrates the potential diversity of presenting gastrointestinal symptoms and signs including hematemesis, obstruction and recurrent intussusception. Endoscopy was useful in assessment, while endoscopic polypectomy and surgical resection were both necessary for management. The literature is reviewed and the possible role that this syndrome may have in the development of both gastrointestinal and nongastrointestinal tumours is highlighted.

2019 ◽  
Vol 35 (4) ◽  
pp. 264-269
Author(s):  
Albaro Jose Nieto-Calvache ◽  
Clara Ivette Campos-García ◽  
Ana Maria Granados-Sánchez ◽  
Juan Pablo Benavides-Calvache ◽  
Juan Pablo Suso-Palau ◽  
...  

2020 ◽  
Vol 7 (31) ◽  
pp. 1566-1568
Author(s):  
Roshjo Roshan Attokaran ◽  
Ravindran Chirukandath ◽  
Harikumar V ◽  
Revathy Prasanna Kumar ◽  
Bobby Sebastian

2021 ◽  
Vol 7 (2) ◽  
pp. 98-102
Author(s):  
R H Gobbur ◽  
Ranjima M ◽  
Aravind S Akki

During the current COVID-19 pandemic, the assessment, and management of patients are challenging. The clinical features of COVID-19 are heterogeneous and subtle in many cases. Although diffuse alveolar damage and acute respiratory failure are the main features of COVID-19, the impairment of other organs are also seen. Gastrointestinal symptoms are common in pediatric patients with COVID-19 as SARS-CoV-2 is able to enter gastrointestinal epithelial cells. However, these complaints can also be caused by a COVID-19-independent concomitant abdominal pathology. Therefore, patients with fever with acute abdominal pain, anorexia, nausea, vomiting and diarrhea need to be assessed very thoroughly. Previous studies reported that COVID-19 was likely to result in liver injury. Based on clinical cases, we present our approach of management of children with symptoms and signs of viral hepatitis and concomitant suspicion of ­COVID-19.


Author(s):  
Farah Shaukat ◽  
Melissa Hart ◽  
Timothy Burns ◽  
Pankaj Bansal

Abstract VEXAS syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the UBA1 gene. It often coexists with MDS which can occur due to DNMT3A mutation. These patients, predominantly males, present after the fifth decade of life with unique systemic inflammatory clinical features and have hematological abnormalities and vacuolated precursor cells on bone marrow pathology. Here we describe a unique case of VEXAS syndrome in a patient harboring DNMT3A gene mutation with coexisting UBA1 mutation with a review of literature.


2021 ◽  
pp. 1-3
Author(s):  
Flor M Fernández-Gordón Sánchez ◽  
Flor M Fernández-Gordón Sánchez ◽  
Elena Gomez Dominguez ◽  
Cristina Garfia Castillo ◽  
Jorge Arroyo Andres ◽  
...  

Immunotherapy with checkpoint inhibitors is associated with termed inflammatory and immune-related side effects (irAE). Upper gastrointestinal symptoms are infrequent and appear mainly in patients on combination therapy with two checkpoint inhibitor drugs. We present the case of a patient with IIIB stage cutaneous melanoma treated with Nivolumab in monotherapy who developed an immune-mediated gastritis. Histopathologically, due to the paucity of published cases, no specific pattern of Nivolumab-immune-mediated gastritis has been described. We have reviewed the literature and compared the histopathology of the cases available in the literature.


2019 ◽  
Vol 61 ◽  
pp. 119-122
Author(s):  
Carlos Castanha de Albuquerque Neto ◽  
Natália da Silva Lira ◽  
Marcelo A.R.C. Albuquerque ◽  
Fernando Santa-Cruz ◽  
Laís de França M. Vasconcelos ◽  
...  

2016 ◽  
Vol 2016 ◽  
pp. 1-6
Author(s):  
Marlene Teixeira Andrade ◽  
Cláudia V. Marques de Freitas ◽  
Sara Filipa Camacho Câmara ◽  
José Joaquim Nunes Vieira

Endometriosis is defined as the presence of endometrial glands and stroma outside the uterus. It affects 3 to 10 percent of women of reproductive age. Umbilical endometriosis is rare, with an estimated incidence of 0.5–1.0% among all cases of endometriosis, and is usually secondary to prior laparoscopic surgery involving the umbilicus. In this report, we described a case of umbilical endometriosis treated with surgical resection and highlight the great importance of medical history compared to complementary diagnostic tests that can be sometimes inconclusive.


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