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A Rare Case: Genetically Confirmed Newborn with Thanatophoric Dysplasia Type 1 (TD1)
I Gusti Ayu Dwi Aryani,
I Made Arimbawa,
Made Kardana,
Ni Nyoman Ayu Dewi,
Pande Putu Yuli Anandasari
Issue:
Volume 9, Issue 1, March 2021
Pages:
1-5
Received:
20 December 2020
Accepted:
4 January 2021
Published:
12 January 2021
Abstract: Thanatophoric dysplasia (TD) is the most frequent sporadic lethal skeletal dysplasia with an incidence about 1 in 17.000–50.000 births. Diagnosis of TD can made at prenatal period by ultrasound and immediately after birth based on clinical examination, radiologic studies, histopathology and molecular analysis. Thanatophoric dysplasia is subdivided in two dinstinct phenotypes: 1) Thanatophoric dysplasia type 1 (TD1) is characterized by curved ‘‘telephone receiver’’ femora and mild craniosynostosis or 2) Thanatophoric dysplasia type 2 (TD2) includes straight femora and cloverleaf skull. Girl baby was born from 44 years old female with 35th weeks of gestation (WOG) with non-consanguineous marriage. The patient looked lethargic accompanied with rapid breathing with chest indrawing. On examination the patient looked dysmorphic, large head with frontal bossing without clover leaf skull, upper and lower limbs were extremely short. Babygram showed head was large, thoracic cavity was small and narrow, the ribs were short, and “telephone receiver” like curved femora was noted. Mutational analysis confirmed a heterozygous allele p.Tyr373Cys mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. The patient was diagnosed with TD1. The general condition and respiratory distress did not improve and the patient was died on the sixteenth days of hospitalization. Thanatophoric dysplasia type 1 was rare disease and lethal case. The diagnosis based on clinical examination, radiologic studies, histopathology and molecular analysis. Lethality in thanatophoric dysplasia is caused mainly by respiratory distress due to a narrow thorax.
Abstract: Thanatophoric dysplasia (TD) is the most frequent sporadic lethal skeletal dysplasia with an incidence about 1 in 17.000–50.000 births. Diagnosis of TD can made at prenatal period by ultrasound and immediately after birth based on clinical examination, radiologic studies, histopathology and molecular analysis. Thanatophoric dysplasia is subdivided ...
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The Impact of Sequencing Human Genome on Genomic Food & Medicine
Issue:
Volume 9, Issue 1, March 2021
Pages:
6-19
Received:
4 March 2021
Accepted:
30 March 2021
Published:
16 April 2021
Abstract: This abstract describes the development of novel food and drug based on the genetic make-up individuals and their diseases. It also describes how sequencing of human genome help us design the most nutritious food for the burgeoning population of world. Regardless of race, religions or place of origin, sooner or later we all have to become vegetarians. Non-vegetarians eat meat because it contains, out of 20, eight essential amino acids in concentrated form. Genome sequencing have already identified all the essential amino acid Codons which could be spliced in the Rice, Corn or Wheat genomes. Genetic tools are now available to splice essential amino acids Codons into Rice Genome. Using the genetic tools, we have successfully spliced Beta Carotene gene into the Rice Genome to produce Golden Rice. Upon ingestion of the Golden Rice, Beta Carotene is converted to Vitamin A which prevents blindness in children. Based on the genetic make-up of the host cells, we will cut, paste and copy important genes to develop new food, new fuel, and new medicine to treat every disease known to mankind. Our future lies in Space. By 2024, we plan to land men on Mars. The inhabitants of Mars will grow genetically modified plants only. We will also discuss ethical issues based on the unintended consequences of genetic modification of our food and medicine.
Abstract: This abstract describes the development of novel food and drug based on the genetic make-up individuals and their diseases. It also describes how sequencing of human genome help us design the most nutritious food for the burgeoning population of world. Regardless of race, religions or place of origin, sooner or later we all have to become vegetaria...
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Accelerated Variability of Human Genes and Transportable Elements; Genesis of Network
Boris Fuks,
Alexandr Konstantinov
Issue:
Volume 9, Issue 1, March 2021
Pages:
20-30
Received:
20 March 2021
Accepted:
6 April 2021
Published:
16 April 2021
Abstract: In this review the authors address the issues related to the evolution of human. A human differs from all other species in that she acts according to a plan, or an idea she has chosen. The discovery of HAR (human accelerated region) showed that evolutionarily new regulatory regions play an important role in the functioning and development of the human brain. In Homo sapiens, conserved sequences in this area underwent numerous single nucleotide substitutions. In the five selected HARs, substitution rates were 26 times higher than those for chimpanzees showing 63 extremely fast-paced regions for H. sapiens. Human genes that regulate the development of the nervous system during evolution underwent positive selection mainly within their non-coding sequences. 92% of the detected HARs are located in intergenic regions and introns and therefore are regulatory sequences, such as enhancers. Only 2% of our genome consists of genes encoding a protein, and the remaining 98% encode regulatory elements that control gene expression in different tissues. Eukaryotic genomes contain thousands to millions of copies of transportable elements (TE). Authors believe that evolution is driven by the dynamics of transposons (TEs) and natural selection. Population studies have found thousands of individual TE insertions in the form of common genetic variants, i.e., TE polymorphisms. Active human TE families include Alu, L1, and SVA elements. These active families of human TE are retrotransposons. Analysis of human polyTE genotypes shows that patterns of TE polymorphism repeat the pattern of human evolution and migration over the past 60,000-100,000 years. They are involved in changes in human regulatory genes. The similarity of patterns allows one to see the effect of TE on regulatory structures that create the structure of the human body, using encoded structures. This conclusion is consistent with studies of intelligence genes, which are based on SNP associations with IQ, as well as with the foundations of a structural and functional network. High proportion of positive selection of genetic variants of our species for the last 6 million years and soft sweeps may explain the accelerated evolution of H. sapiens. The acceleration of gene variability in HAR occurred in parallel with an increase in the activity of the prehuman aimed at the expedient creation of a local environment with neutral mutant genes, expressed in soft sweeps. Humanity itself creates its own present and future biological evolution.
Abstract: In this review the authors address the issues related to the evolution of human. A human differs from all other species in that she acts according to a plan, or an idea she has chosen. The discovery of HAR (human accelerated region) showed that evolutionarily new regulatory regions play an important role in the functioning and development of the hu...
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