Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review

2019 ◽  
Vol 13 (2) ◽  
pp. 246-250
Author(s):  
Xueying Su ◽  
Yongxian Shao ◽  
Yunting Lin ◽  
Xiaoyuan Zhao ◽  
Wen Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Molecular Characteristics ◽  
Chinese Girl

scholarly journals UBA1 and DNMT3A Mutations in VEXAS Syndrome. A Case Report and Literature Review

2021 ◽  
Author(s):  
Farah Shaukat ◽  
Melissa Hart ◽  
Timothy Burns ◽  
Pankaj Bansal
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Clinical Features ◽  
Somatic Mutation ◽  
Review Of Literature ◽  
Unique Case ◽  
Hematological Abnormalities ◽  
Autoinflammatory Condition

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.

scholarly journals Purulent Meningitis as an Unusual Presentation ofStaphylococcus aureusEndocarditis: A Case Report and Literature Review

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Giancarlo Ceccarelli ◽  
Gabriella d'Ettorre ◽  
Vincenzo Vullo
Keyword(s):  
Staphylococcus Aureus ◽  
Case Report ◽  
Mortality Rate ◽  
Literature Review ◽  
Bacterial Meningitis ◽  
Clinical Features ◽  
Neurological Complication ◽  
Crucial Importance ◽  
Purulent Meningitis ◽  
Meningococcal Septicaemia

On presentation ofStaphylococcus aureusendocarditis, unusual manifestations may represent the main clinical features of the disease. Isolated bacterial meningitis as the first manifestation of endocarditis is considered to be an unusual neurological complication. Here, we describe a caseS. aureusendocarditis presenting as isolated meningitis and mimicking meningococcal septicaemia. Because of the high mortality rate of the disease, the prompt recognition of this infectious syndrome is of crucial importance for the correct management of patients.

Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review

2020 ◽  
Author(s):  
Mohammadreza Ghassemi ◽  
Azadeh Goodarzi ◽  
Farnoosh Seirafianpour ◽  
Samaneh Mozafarpoor ◽  
Elham Ziaeifar
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Ellis Van Creveld Syndrome

De novo exonic deletion ofKDM6Ain a Chinese girl with Kabuki syndrome: A case report and brief literature review

2016 ◽  
Vol 170 (6) ◽  
pp. 1613-1621 ◽  
Author(s):  
Pu Yang ◽  
Hu Tan ◽  
Yan Xia ◽  
Qian Yu ◽  
Xianda Wei ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo ◽  
Kabuki Syndrome ◽  
Chinese Girl ◽  
Exonic Deletion

scholarly journals A Drug-induced Hepatitis Patient with a Manifestation of Liver Occupying Lesions on Ultrasound B: Case Report and Literature Review

2013 ◽  
Vol 2 (2) ◽  
pp. 81-83
Author(s):  
Dan-ying Cheng ◽  
Xiao-mei Wang ◽  
Wei-ni Ou ◽  
Hui-chun Xing
Keyword(s):  
Case Report ◽  
Liver Injury ◽  
Literature Review ◽  
Clinical Features ◽  
Herbal Remedies ◽  
Drug Induced ◽  
Drug Induced Liver Injury ◽  
Hepatitis Patient ◽  
Dili Case

Abstract Drug-induced liver injury (DILI) is defined as injury to the liver caused by exposure to a drug or some drugs. The number of cases suffering from DILI has been increasing. There are few clinical features specifically associated with DILI. The recognition and diagnosis of DILI is difficult. In this report, we described a DILI case caused by herbal remedies.

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 ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Surgical Resection ◽  
Clinical Features ◽  
Gastrointestinal Symptoms ◽  
Endoscopic Polypectomy ◽  
Peutz Jeghers Syndrome ◽  
Recurrent Intussusception ◽  
Symptoms And Signs

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.

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