Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency

2019 ◽  
Author(s):  
Brian J. Shayota ◽  
Claudia Soler‐Alfonso ◽  
Mir Reza Bekheirnia ◽  
Elizabeth Mizerik ◽  
Suzy W. Boyer ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Leigh Syndrome ◽  
Short Chain ◽  
Novel Treatment ◽  
Enoyl Coa Hydratase

scholarly journals Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report

2020 ◽  
Vol 25 ◽  
pp. 100672
Author(s):  
Madoka Uesugi ◽  
Jun Mori ◽  
Shota Fukuhara ◽  
Noriko Fujii ◽  
Tadaki Omae ◽  
...  
Keyword(s):  
Case Report ◽  
Short Chain ◽  
Plasma Lactate ◽  
Normal Plasma ◽  
Lactate Levels ◽  
Enoyl Coa Hydratase

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
K Lengnick ◽  
O Hasselmann ◽  
R Horváth ◽  
B Schoser ◽  
J Mayr ◽  
...  
Keyword(s):  
Case Report ◽  
Leigh Syndrome ◽  
Mitochondrial Mutation

scholarly journals A novel method to treat recurrent facial pain: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Jintakorn Kuvatanasuchati ◽  
Karoon Leowsrisook
Keyword(s):  
Case Report ◽  
Trigeminal Neuralgia ◽  
Facial Pain ◽  
Case Presentation ◽  
Facial Movements ◽  
Novel Treatment ◽  
Effective Cost ◽  
Novel Method

Abstract Background Chronic facial pain is a serious condition affecting millions of people worldwide. The reasons for chronic facial pain vary, and currently, the methods of treating chronic facial pain are expensive, invasive, and, based on current findings, ineffective. The purpose of this study is to develop and test an effective, cost-friendly method to treat patients with chronic facial pain. This study will examine the effectiveness of a novel treatment of a patient suffering from trigeminal neuralgia. Case presentation A 70-year-old Thai female visited the advanced general dentistry clinic at the Faculty of Dentistry, Mahidol University, Bangkok, Thailand. She was suffering from facial pain on her left side and was diagnosed by a physician as having trigeminal neuralgia. She experienced a sharp shooting pain that was triggered by facial movements such as chewing, speaking, or brushing teeth, and touching certain areas of her face. Bouts of pain lasted from a few seconds to several minutes, and episodes of several attacks lasted days, weeks, months, or longer prior to her visit to the advanced general dentistry clinic at Mahidol University. Physician designed an occlusal equilibration appliance for treating the patient by inserting the appliance in the mouth for dental occlusal equilibration (deprogram). The patient used this appliance by placing it in the mouth continuously (day and night) and removed it only when eating. After using the appliance for 2 weeks, the patient appeared to feel and look better prior to taking medication and was able to eat normally. The patient was pain free after treatment for a duration of 9 months. However, after 9 months, the pain reoccurred and manifested itself. Conclusion This novel treatment of recurrent facial pain showed an improvement of the patient’s chronic facial pain and serves as evidence to being a novel method for treating those suffering from trigeminal neuralgia.

scholarly journals Hyperprogression in a Patient With Hepatocellular Cancer Treated With Atezolizumab and Bevacizumab: A Case Report and Review of Literature

2021 ◽  
Vol 9 ◽  
pp. 232470962199220
Author(s):  
Balraj Singh ◽  
Parminder Kaur ◽  
Michael Maroules
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Disease Burden ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Hepatocellular Cancer ◽  
Past Medical History ◽  
Review Of Literature ◽  
Novel Treatment ◽  
Accelerated Growth

Immune checkpoint inhibitors have emerged as a novel treatment in a wide variety of malignancies; however, it is associated with a distinctive array of side effects known as immune-related adverse events. Hyperprogression is defined as an accelerated growth of disease burden in patients treated with immunotherapy. Limited literature is available regarding hyperprogression in hepatocellular cancer. We report a case of a 36-year-old male with no past medical history who presented with nausea, vomiting, and abdominal pain and was diagnosed with unresectable hepatocellular cancer and thereby started on atezolizumab and bevacizumab. The patient got only 1 cycle of treatment and unfortunately had hyperprogression of disease.

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

scholarly journals First case report of short-chain acyl-CoA dehydrogenase deficiency in China

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P181
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
MinZhi Peng ◽  
CuiLi Liang ◽  
HuiYing Sheng ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
First Case ◽  
Chain Acyl

scholarly journals Early Implementation of Veno-Venous Hemofiltration and Use of Rotational Atherectomy in a Patient with ST-Elevation Myocardial Infarction Complicated by Cardiogenic Shock- case report.

2020 ◽  
Author(s):  
Monika Durak ◽  
Marek Tomala ◽  
Bartłomiej Nawrotek ◽  
Andrzej Machnik ◽  
Jacek Legutko
Keyword(s):  
Myocardial Infarction ◽  
Acute Kidney Injury ◽  
Case Report ◽  
Cardiogenic Shock ◽  
Right Ventricular ◽  
Kidney Injury ◽  
Novel Treatment ◽  
Early Implementation ◽  
Right Ventricular Myocardial Infarction ◽  
St Elevation

We report a patient with cardiogenic shock (CS) in the course of acute right ventricular myocardial infarction (MI). Our case highlights the use of continuous veno-venous hemofiltration as a novel treatment option for acute kidney injury in the setting of CS and the use of rotational_atherectomy in patients with MI.

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