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Formerly Journal of Turgut Ozal Medical Center - ISSN 1300-1744

  • Annals of Medical Research



    Annals of Medical Research International Monthly Published Medical Journal

  • Annals of Medical Research

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  • Annals of Medical Research


    Annals of Medical Research indexed in TÜBİTAK/ULAKBİM Tıp Veri Tabanı

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  • Annals of Medical Research
  • Annals of Medical Research
  • Annals of Medical Research
  • Annals of Medical Research

Dear readers,

Our journal is the official publication of Inonu University Medical Faculty and published uninterruptedly for 25 years. It was first published as the name of Inonu University Medical Journal and later as Journal of Turgut Ozal Medical Center. During its publication period, the journal accepted Turkish or English articles for publication.

Abstracting in an international index is just a paramount objective in the 25th year of the journal. Because of this goal, it was necessary to make a decision both in terms of journal name and publication language. It was important in this respect that the name of a general medical journal should be related to medicine again and it should be in English. For these reasons, the name of the journal was switched to Annals of Medical Research and its publication language is changed to in English. The logo of the journal was chosen as an apricot, which is the symbol of our city Malatya, the world capital of apricot. I hope the journal succeeds with its new name. Annals of Medical Research is published monthly.

Editor-in-Chief

 

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient (p.2200-3)

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient (p.2200-3)

Oguz Dikbas1, Deniz Torun2, Irem Ilgezdi1, Ilker Eyuboglu4, Burcu Unlu5
1Department of Internal Medicine, Faculty of Medicine, Giresun University, Giresun, Turkey
2Department of Medical Genetics, University of Health Sciences, Gulhane Faculty of Medicine, Ankara, Turkey
3Department of Neurology, FAculty of Medicine, Giresun University, Giresun, Turkey
4Department of Physical Therapy and Rehabilitation, Fethiye State Hospital, Mugla,Turkey

Copyright © 2020 by authors and Annals of Medical Research Publishing Inc.

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage. CTX is characterized by infantile or early childhood onset of chronic diarrhea, tendon xanthomas (especially in the achilles tendon), cataracts, and neurological symptoms such as cognitive impairment, pyramidal, extrapyramidal and cerebellar signs, seizures, peripheral neuropathy that appear in the second or third decades of life. A thirty-nine years old Turkish female patient admitted to the Neurology outpatient clinic with the complaint of increasing dizziness and walking difficulty in recent years. She had an operation for both achilles tendon xanthomas and juvenile cataract. Her neurological symptoms and cranial magnetic resonance imaging (MRI) findings were consistent with cerebrotendinous xanthomatosis. A novel homozygous splicing site mutation (IVS8+2T>C, c.1476+2T>C, NM_000784.3) in CYP27A1 gene was detected. This is the first CTX related mutation reported in the literature. 

Keywords: Cerebrotendinous xanthomatosis (CTX); CYP27A1; cholestenol; novel mutation  

 

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doi: 10.5455/annalsmedres.2020.03.254  

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Annals of Medical Research is the scientific official journal of the Inonu University Faculty of Medicine. It is published monthly. The essential aim of the Annals of Medical Research is to publish scientifically high quality clinical and experimental research articles on fields of medicine which can contribute to the literature data. In addition, review articles, case reports, editorials, letters to the editors and manuscripts on publication ethics and medical history, which can contribute to the education and practices of physicians and health sector professionals within the scope of the journal’s target audience and which can increase the level of scientific communication between the authors and readers, are included in the scope of the journal.

 

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