scholarly journals Hepatocellular Adenoma in a Patient with Ornithine Transcarbamylase Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Lin Cheng ◽  
Yajuan Liu ◽  
Wenjing Wang ◽  
J. L. Merritt ◽  
Matthew Yeh
Keyword(s):  
Liver Damage ◽  
English Language ◽  
Scientific Literature ◽  
Hepatocellular Adenoma ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency ◽  
Otc Deficiency

Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that leads to hyperammonemia and liver damage. Hepatocellular adenoma in OTC deficiency patients has not been previously described. Here we report the first such case to be described in the English language scientific literature.

scholarly journals Prenatal diagnosis of ornithine transcarbamylase deficiency: optimizing pregnancy outcome in a woman with previous affected babies

2018 ◽  
Vol 7 (2) ◽  
pp. 742
Author(s):  
Chandana Galidevara ◽  
Swaramya Chandrasekaran
Keyword(s):  
Diagnostic Testing ◽  
Ornithine Transcarbamylase ◽  
Obstetric Outcomes ◽  
Ornithine Transcarbamylase Deficiency ◽  
Adult Onset ◽  
Heterozygous Carrier ◽  
Prenatal Diagnostic ◽  
Life Threatening ◽  
Otc Deficiency ◽  
Prenatal Diagnostic Testing

Ornithine Transcarbamylase (OTC) deficiency is an inherited X-linked disorder which predominantly affects males. Females are usually carriers and may rarely be symptomatic. Affected individuals may present with severe life threatening disease immediately after birth. Those with variants of the disease may have late adult onset symptoms. We report a case of an asymptomatic female heterozygous carrier of the defect with recurrent poor obstetric outcomes and subsequent management with prenatal diagnostic testing.

Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency

2021 ◽  
Vol 14 (5) ◽  
pp. e241429
Author(s):  
Daniel Kazmierski ◽  
Nishant Sharma ◽  
Kelly O'Leary ◽  
Pius Ochieng
Keyword(s):  
Cerebral Oedema ◽  
Urea Cycle ◽  
Late Onset ◽  
Genetic Disorder ◽  
Management Strategies ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency ◽  
History Of ◽  
Otc Deficiency ◽  
Psychiatric Conditions

Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle characterised by deficiency in the enzyme OTC, resulting in an accumulation of ammonia. Valproic acid (VPA), a commonly used medication in the treatment of neurologic and psychiatric conditions, has been known to cause episodes of acute hyperammonaemia in patients with OTC deficiency. We present the case of a 29-year-old man with a long history of non-specific psychiatric disorders, who suffered from a hyperammonaemic crisis following the administration of VPA, leading to the diagnosis of OTC deficiency. The patient’s hospital course was complicated by progressive cerebral oedema, which resulted in worsening encephalopathy, seizures and death. We discuss the pathophysiology of hyperammonaemia in OTC deficiency, and various management strategies, including lactulose, levocarnitine, scavenger therapy and haemodialysis.

Publication of a scientific article in for an english-language journal. Part 2

2019 ◽  
Vol 23 (5) ◽  
pp. 116-121
Author(s):  
A. I. Nevorotin ◽  
I. V. Awsiewitsch ◽  
I. M. Sukhanov
Keyword(s):  
Detailed Analysis ◽  
English Language ◽  
Scientific Literature ◽  
Scientific Article ◽  
Scientific Journals ◽  
English Language Journal ◽  
The Matrix ◽  
Syntactic Relations

This article is the continuation of analysis and discussion from the book by Professor AI Nevorotin "Matrix phraseological collection: a manual for writing a scientific article in English". The Matrix phraseological collection is a kind of catalog of text samples. The samples were from articles selected from the leading English-language scientific journals and were systematized in such away that when writing an article in English, a Russian researchers are able easy to find examples suitable for his/her own work. Furthermore, the selected samples can be transformed accordingly saving the semantic and syntactic relations between the elements and, finally, be inserted into the text. The second part of this work is devoted to the detailed analysis of the English scientific literature and also the section "Legality of the provisions of the problem".

scholarly journals Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis

2009 ◽  
Vol 53 (1) ◽  
pp. 100-102 ◽  
Author(s):  
Lakshmi Venkateswaran ◽  
Fernando Scaglia ◽  
Valerie McLin ◽  
Paula Hertel ◽  
Oleg A. Shchelochkov ◽  
...  
Keyword(s):  
Risk Factor ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency
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