IDH1 Mutation in Gliomas in Baghdad by Immunohistochemical Study
Zahraa Marwan Shaban,
Salim Rasheed Al-Aubaidy,
Ameer Dhahir Hameedi
Issue:
Volume 6, Issue 1, March 2018
Pages:
1-7
Received:
7 November 2017
Accepted:
20 November 2017
Published:
11 January 2018
Abstract: IDH1 (isocitrate dehydrogenase 1) mutation might be encounter in the low-grade glioma occurs in early stages of development and directs the progression of the tumor to a higher grade. Aim of the study was to assess the frequency of IDH1 mutation in Iraqi patients with gliomas by immunohistochemical study, to correlate its immunoreactivity with some clinicopathological parameters. The study did on formalin fixed, paraffin embedded tumor tissue from 66 patients with different grades of intracranial gliomas of both gender and all age groups in the Baghdad city were collected in this retrospective and prospective randomized study. Ten normal brain tissue samples in form of paraffin blocks took from forensic medicine unit. New technique used, which is manual tissue microarray Immunohistochemical detection of IDH1 antibodies did by Dako autostainer link 48. Positive cytoplasmic IDH1 staining was found in 38 (57.6%) of cases of glioma. In adult gliomas, secondary glioblastoma multiforme, low grade astrocytoma and oligodendroglial tumors had the greatest values of IDH1 positivity (87%, 80% and 72.72% respectively) followed by anaplastic astrocytoma (42%), then primary glioblastoma multiforme (26%). Males and females expressed the IDH1 equally. The conclusions from the work were IDH1 mutation commonly existed in adult gliomas, low-grade gliomas and secondary glioblastoma, it had no role in pediatric gliomas, and it could be a diagnostic and prognostic marker.
Abstract: IDH1 (isocitrate dehydrogenase 1) mutation might be encounter in the low-grade glioma occurs in early stages of development and directs the progression of the tumor to a higher grade. Aim of the study was to assess the frequency of IDH1 mutation in Iraqi patients with gliomas by immunohistochemical study, to correlate its immunoreactivity with some...
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3D Diffraction – Limited Imaging with a Laser Fourier Holographic Microscope
Issue:
Volume 6, Issue 1, March 2018
Pages:
8-10
Received:
6 December 2016
Accepted:
17 August 2017
Published:
26 March 2018
Abstract: A laser holographic microscope (LHM) is investigated experimentally. The standard slide of Parascaris Univalens Iarva (ascaris) is studied. Comparison of the pictures of the same ascaris cell, observed by the LHM and high-performance Nikon conventional optical microscope (COM) 10×100/1.25 with immersion oil and green filter indicates that the both microscopes provide diffraction – limited 3-D spatial resolution, but dramatically different contrast. Thus, the LHM gives much more subcellular information.
Abstract: A laser holographic microscope (LHM) is investigated experimentally. The standard slide of Parascaris Univalens Iarva (ascaris) is studied. Comparison of the pictures of the same ascaris cell, observed by the LHM and high-performance Nikon conventional optical microscope (COM) 10×100/1.25 with immersion oil and green filter indicates that the both ...
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A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia
Lina Al Neghery,
Rosan Kenana,
Albandary Al Bakheet,
Rawan Al Mass,
Faten Al Mutairi,
Maysoon Al Sagob,
Aliya Qari,
Rozeena Huma,
Dilek Colak,
Maha Daghestani,
Namik Kaya,
Moeenaldeen Al Sayed
Issue:
Volume 6, Issue 1, March 2018
Pages:
11-17
Received:
12 January 2018
Accepted:
29 January 2018
Published:
5 May 2018
Abstract: Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) lead to autosomal recessive periventricular heterotopia (PH). To date, 11 mutations, (six missense mutations, one splicing mutation, one small deletion, two small insertions, and one small deletion/insertion) have been reported. Assessing ARFGEF2 mutations will provide a holistic overview of PH. This retrospective study was conducted in 2016 at King Faisal Specialist Hospital and Research Center. For the index patient, magnetic resonance imaging studies revealed a symmetrical focal hyperintensity involving the putamen bilaterally and the inner aspect of the globus pallidus. After family members were genotyped, an autozygosity analysis was performed, followed by exome sequencing of the index patient; A comprehensive filtering approach based on the loss of heterozygosity (LOH) was used to identify variants in phenotypically relevant genes. We report a consanguineous family with two affected individuals, a boy and a girl, with a history of microcephaly, global developmental delay, intellectual disability, myoclonic seizure, and dystonia. The patients carried a novel nonsense mutation (c.3974G>A, p. Trp1325*) in the Armadillo-type fold domain of ARFGEF2. These findings extend our understanding of the phenotype–genotype correlations for ARFGEF2 mutations.
Abstract: Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) lead to autosomal recessive periventricular heterotopia (PH). To date, 11 mutations, (six missense mutations, one splicing mutation, one small deletion, two small insertions, and one small deletion/insertion) have been reported. Assessing ARFGEF2 mutations will prov...
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A Small Pure 3q25.1 Duplication Associated with Multiple Cerebral Organizational Defects
Jesus David Sendoya Vargas,
Divya Periasamy,
Frank Barreiro Sanchez,
Maria Alejandra Benavides Fierro,
Ingrid Carolina Duran Palacios,
Richard Sidlow,
Henry Ostos Alfonso
Issue:
Volume 6, Issue 1, March 2018
Pages:
18-21
Received:
11 March 2018
Accepted:
3 April 2018
Published:
5 May 2018
Abstract: Duplications of the long arm of chromosome 3 most frequently occur in the context of other chromosomal copy number variations. Pure duplications of this region are exceedingly rare, varying widely in size and clinical presentation. Presented below is a case of a small pure duplication of the long arm of chromosome 3q25.1 associated with marked cerebral organization defects and the possible genotype/phenotype correlation between the two.
Abstract: Duplications of the long arm of chromosome 3 most frequently occur in the context of other chromosomal copy number variations. Pure duplications of this region are exceedingly rare, varying widely in size and clinical presentation. Presented below is a case of a small pure duplication of the long arm of chromosome 3q25.1 associated with marked cere...
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