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  • 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
  • Annals of Medical Research
  • Annals of Medical Research

Dear Annals of Medical Research Readers

As of the end of March 2021, I have started to work as Chief Editor at Annals of Medical Research. Our journal is the official publication of Inonu University Medical Faculty and published uninterruptedly for 28 years.  Our Journal, which is online as an open access journal with monthly free access, is being scanned in many national and international indexes (ULAKBIM TR Dizin, Turkish Medline, EBSCO, Google Scholar, etc.). I would like to thank the Editors before me who contributed to this level. Our primary goal is to ensure the maintenance of this good state of the journal and to ensure that it is scanned in prestigious international indexes (Pubmed Central, SCI-Expended, etc.). In order to achieve these goals, it depends on the original research articles that can be cited and the articles published in our Journal to be cited sufficiently in other international journals. The contributions of our readers, reviewers and authors in achieving this goal are of great importance.

I hope to announce the news that we have reached our goals as soon as possible.

MD. Prof. Nevzat Erdil

Editor-in-Chief

Annals of Medical Research

 

CLP1 associated pontocerebellar hypoplasia (p.614-7)

CLP1 associated pontocerebellar hypoplasia (p.614-7)

Gul Demet Kaya Ozcora1, Dilek Aktas2, Sefer Kumandas3
1Department of Pediatrics, Division of Pediatric Neurology, Kayseri City Hospital, Kayseri, Turkey
2Damagen Genetic Diagnostic Center, Ankara, Turkey
3Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Copyright@Author(s) - Available online at www.annalsmedres.org
Content of this journal is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Abstract

Pontocerebellar hypoplasia (PCH) is a group of hereditary neurodegenerative diseases characterized by the developmental pathology of infra tentorial brain structures such as cerebellum and pons. In recent years, many new PCH cases have been identified due to the evolution and easily accessible of genetic analysis such as next-generation sequencing.
We described a family were referred to our clinic because of epilepsy and MMR in two brothers with dysmorphic features: Physical examination revealed dysmorphic features such as; forehead sloping, hypertelorism, hypertrichosis, indistinct philtrum, cupped right ear, anteverted nares, oligodontia, high-arched palate, short neck, low posterior hairline, pes equinovarus, microcephaly (45cm, A [hg19], NM_006831.2) pathogenic variant in the CLP1 gene which were described in 2014 in patients with similar clinical features.
In patients with pontocerebellar hypoplasia in MRI, if other causes in the differential diagnosis are ruled out except types and subtypes of PCH and MRI does not show dragon-fly like pattern CLP1 gene can be sequenced first before whole exome or genome sequencing in patients with Asian origin which is much more cheaper and faster.

Keywords: Children; CLP1; pontocerebellar hypoplasia

 

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doi: 10.5455/annalsmedres.2020.03.183 

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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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