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Serological and virological profile of patients with chronic hepatitis B infection in Eritrea

Published on: 24th July, 2020

OCLC Number/Unique Identifier: 8639906724

Background: Hepatitis B virus infection is a major cause of liver associated morbidity and mortality with diverse spectrum of disease. It is estimated about 15% to 40% of patients with hepatitis B virus infection progress to chronic hepatitis and about 15% to 25% die from disease complications. The main aim of this study was to evaluate the serological and virological markers of patients with chronic hepatitis B virus infection to determine the natural history of chronic hepatitis B infection in the Eritrean setting. Methods: A laboratory-based cross-sectional study was conducted on 305 patients with HBsAg positive who presented to Orotta National Referral Hospital, Halibet Hospital, Sembel Hospital and National Health Laboratory in Asmara, Eritrea from January 2017 to February 2019. Enzyme-linked immunosorbent assay was performed to detect hepatitis B serological markers (anti-HBc, HBsAg, anti-HBsAb, HBeAg and anti-HBeAg). Hepatitis B DNA viral loads and liver transaminase levels were determined. Data analysis was conducted using SPSS version 25.0. Results: A total of 305 patients presented with HBsAg positive serology with a mean age of 41.3 (± 13.7) years ranging from 16 to 78 years. Males were 218 (71.5%) and females 87 (28. 5%).Anti-HBc was positive in 300 (98.4%), of which 293 (97.5%) were positive for HBsAg and 7 (2.3%) positive for anti-HBs. Among these 293 patients, 20 (6.8%) were HBeAg positive/anti-HBe positive, 242 (82.6%) HBeAg-negative/anti-HBe-positive and 31 (10.6%) were HBeAg negative/anti-HBe-positive. Detectable HBV DNA was found in 122(41.6%) of the 293 cases. Alanine transaminase was normal in 90% of HBeAg-positive and in 91.2% of HBeAg-negative patients. Hepatitis B DNA viral load was >2,000 IU/mL in 67 (22.86%) and >200,000 IU/mL level was more frequently detected in HBeAg positive (20.0%) compared to HBeAg negative (1.8%) subjects (p < 0.001). Conclusion: This study shows predominance of HBeAg-negative and low replication phase of HBV infection among patients in Eritrea. It also documented that most patients had chronic infection with normal liver transaminase levels in the absence of biochemical signs of hepatitis. This study will provide a basis for therapeutic evaluation of patients and planning national treatment guidelines in the Eritrean setting.
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Stages in COVID-19 vaccine development: The Nemesis, the Hubris and the Elpis

Published on: 22nd December, 2020

OCLC Number/Unique Identifier: 8870065222

The nemesis: SARS-CoV-2 pandemic: Leaving in its wake millions of infections, accompanied by an immense magnitude of morbidity and multitude of mortality, and an unfathomable economic toll, the COVID-19 pandemic has led to a global calamity. An effective and safe COVID-19 vaccine is urgently needed to prevent the disease, thwart the complications and avert deaths resulting from unrestrained transmission of the infection. The hubris: Vaccine development: While most of the platforms of vaccine candidates have focused on the spike (S) protein and its variants as the primary antigen of COVID-19 infection, various techniques involved include nucleic acid technologies (RNA and DNA), non-replicating viral vectors, peptides, recombinant proteins, live attenuated and inactivated viruses. There are novel vaccine technologies being developed using next-generation strategies for precision and flexibility for antigen manipulation relating to SARS-CoV-2 infection mechanisms. The elpis: Updates and prospects: There were nine different technology platforms under research and development to create an effective vaccine against COVID 19. Although there are no licensed vaccines against COVID-19 yet, there are various potential vaccine candidates under development and advanced clinical trials. Out of them, one having undergone phase III clinical trials, has become available in some countries for use among the high-risk groups following emergency use authorization. Other COVID-19 vaccines may soon follow the suit. Conclusion: Hopes and concerns: The hope of benefiting from the vaccine to the extent that it may be the only way to tide over and control the COVID-19 pandemic, is accompanied by the likely fear of adverse effects and opposition in public for COVID-19 vaccination, including the vaccine hesitancy. Further, there is concern among scientific circles that vaccine may have opposite of the desired effect by causing antibody-dependent disease enhancement.
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Wild-type Agrobacterium rhizogenes-mediated gene transfer in plants: Agrobacterium virulence and selection of transformants

Published on: 12th June, 2017

OCLC Number/Unique Identifier: 7286428023

Agrobacterium rhizogenes ATCC 15834 wild type strain was transformed with the binary vector pBI121 using the heat shock method. The transformed Agrobacterium was then tested for virulence through tobacco leaf explant transformation. Compared to the non-transformed Agrobacterium, the transformed Agrobacterium showed reduced virulence, producing significantly lower number of hairy roots in tobacco leaf explants. Although the transformed Agrobacterium showed reduced virulence, it was able to transfer the T-DNA of the binary vector into the plant genome, resulting in stable GUS expression in the generated hairy roots. This indicated that in addition to the transfer DNA (T-DNA) from its root inducing (Ri) plasmid, the transformed Agrobacterium is also capable of transferring the binary vector T-DNA and allowing the integration of a foreign gene. Results also showed that hairy root generation efficiency of the transformed Agrobacterium varied with the concentration of the selection agent (kanamycin). Hairy root generation efficiency (hairy roots·explant-1) progressively increased with decreasing concentrations of kanamycin; and the efficiency was highest in the absence of kanamycin. Generated hairy roots showed very strong to tiny GUS expression even those that grew under the highest concentration of the kanamycin (50 mg·L-1). This indicated that co-transformation and efficient transgene expression does not always occur.
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HBV: Genomic Structure, HBVsAg Isolation and innovative Virotherapy Initiation in the Middle East

Published on: 9th August, 2017

OCLC Number/Unique Identifier: 7286354687

Hepatitis B virus (HBV) is one of the world’s major infectious diseases with 350 million people who are chronic carriers of HBV [1]. Significant minorities go on to develop liver cirrhosis or hepatocellular carcinoma and over 1 million die annually from HBV-diseased liver. Janahi E. at faculty of science, Bahrain University, Bahrain has submitted the following information [2], on HBV-genome organization as part of his Ph.D. degree (2007) in Imperial College, England. HBV genomic organization has 4 Open Reading Frames (ORFs) i.e. Pre-S/S Gene, Pre-C/C ORF, P ORF and X ORF. Regulatory Elements has 4 promoters (pre S2, pre S1, C promoters and X promoters), Pregenomic RNA, Enhancers (Enh 1 and Enh 2) where they are involved in cccDNA formation, Glococorticoid-Responsive Element which is located in X ORF and P ORF overlapping, Polyadenylation Signal (Direct Repeat 1 (DR1) and Direct Repeat 2 (DR2)), Epsilon-Stem Loop and Post-Transcriptional Regulatory Element. HBV genotype D is prevalent in our Middle East area. The HBV genome is a partially relaxed-circular dsDNA molecule consisting of a full length strand (minus strand) with a single unique nick and a complementary (positive strand) of variable length. HBV is considered as a para-retrovirus because its replication involves the reverse transcription of an intermediate-RNA function, of pre-genomic RNA (pgRNA). Replication of HBV genome starts with the encapsidation of the pgRNA and encodes HBV polymerase into an immature nucleocapsid formed by the viral core antigen.
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Evaluation of genetic diversity in germplasm of paprika (Capsicum spp.) using random amplified polymorphic DNA (RAPD) markers

Published on: 27th September, 2017

OCLC Number/Unique Identifier: 7286350759

Capsicum spp. is one of the most important economical horticulture crops due to its high consumption either by fresh vegetable or dried spice. Molecular genetic markers offer a number of applications in the genetic improvement of crop plants, which plays an important role in the areas of plant classification and breeding programs. The polygenetic characters of rare species, which are difficult to analyze by traditional methods can, be analyzed easily and classified by using molecular markers. In our study, genetic relationships of twenty-two paprika species were examined to estimate their genetic variations/similarities and to detect the polymorphism present within and among the paprika species by using RAPD-PCR markers. The results revealed that the maximum similarities among the 16 ICBD lines were 100%. The ICBD 03 had 76% similarity compared with other ICBD lines. The CC01 had comparatively low similarity with ICBD forms (30%), followed by EC01 (28%), EC02 (33%), CC02 (35%), and Kt.Pl-19 (60%). The similarity between EC01 and EC02 were 54%. Kt.Pl-19 showed different similarities compared to CC01 (41%), CC02, EC01 (38%), EC02 (29%) and ICBD 03 (40%). The different combinations were tried to optimize the RAPD-PCR profile, which helped to assessing the polymorphism/similarities within and among the Paprika germoplasms were studied.
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Primer Pairs for Rice (Oryza sativa L.) Bisulfite Sequencing Studies

Published on: 6th November, 2018

OCLC Number/Unique Identifier: 7905997684

Many agriculturally important properties such as heterosis, inbreeding depression, phenotypic plasticity, and resistance for biotic and abiotic stresses are thought to be affected with epigenetic components. New discoveries related with epigenetics are likely to have a major impact on strategies for crop improvement in rice breeding. However, assessing the contribution of epigenetics to heritable variation in plant species still poses major challenges. Methylation of cytosine in DNA is one of the most important epigenetic mechanisms in plants. DNA methylation not only plays significant roles in the regulation of gene activity, but also it is related with genomic integrity. Although most of next generation sequencing (NGS) technologies do not require the use of target specific primer pairs to identify and study DNA cytosine methylation, validation studies of NGS uses selective primer pairs. Bisulfite sequencing technique is a gold method for DNA cytosine methylation studies. However, bisulfite sequencing requires the development of bisulfite primer pairs to selectively study DNA sequences of interest. In this study 9 bisulfite specific primer pairs were identified and validated. These primer pairs successfully amplified bisulfite converted and unconverted genomic DNA extracted from radicle and plumule of rice (Oryza sativa L.) seedlings. Results of the present study clearly revealed the occurrence of CG, CHG and CHH (H stands for C. T or A nucleotides) contents in studied DNA sequence targets were different indicating potential role of DNA cytosine methylation in these genes. Primer pairs reported in this study could be used to detect DNA methylation which is one of the most important epigenetic mechanisms affecting the development, differentiation or the response to biotic and abiotic stress in rice (Oryza sativa L.).
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Asynchronous flowering in clonal seed orchards - An effective strategy for alternative management

Published on: 15th May, 2019

OCLC Number/Unique Identifier: 8165493426

Tropical forests have long been of interest to biologists because of their high species diversity and their complicated patterns of community organization. The recent ecological studies which have demonstrated that tropical trees are diverse in their reproductive biology and dynamic population structure. Asynchronous flowering among the clones in a clonal seed orchard is an inherent problem resulting in poor seed and fruit set in them. These results in the complete defeat of the prime objective of establishment of clonal seed orchards (CSOs) i.e. abundant quality seed production poor flowering and asynchronous flowering between the clones are a major bottleneck in higher seed set in these clonal seed orchards across the country. Asynchrony found between clones may be attributed to the origin of clones, which are collected from different zonal populations as revealed by isoenzyme and DNA markers studies. This article reviews the work done in CSOs across the world and suggests an alternate strategy in designing the clonal seed orchards of the future.
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Gene polymorphisms CVPDr on some plants citrus in Bali Island

Published on: 7th May, 2020

OCLC Number/Unique Identifier: 8604563550

Citrus Vein Phloem Degeneration (CVPD) is the main disease of citrus plants in Indonesia. This disease is caused by Gram negative bacteria, Candidatus Liberibacter asiaticus. Almost all citrus plants are susceptible to this disease and only a few citrus plants such as seedless lime (Citrus aurantiifolia var. Seedles) and kinkit citrus (Triphacia trifoliate) are tolerant. Both of these citrus plants store DNA fragments of CVPDr which are considered as tolerant factors (841 bp). However, this study found that CVPDr DNA fragments were also found in citrus plants susceptible to CVPD disease. This research aims to study DNA polymorphisms from CVPDr DNA fragments in citrus plants on the island of Bali. The PCR test showed T. trifoliate and C. aurantifolia that are resistant to CVPD and Pylogenically are in the same group as C. nobilis var Buleleng, C. reticulate var. Slayer Buleleng, and C. amblicarpa. On the other hand, citrus plants susceptible to CVPD are in a different group. There are two types of citrus plants not containing CVPDr DNA fragments, namely C. nobilis var. Petang and M. paniculata L. These results indicate that the CVPDr DNA fragment polymorphism is a factor tolerant to CVPD disease.
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Bio-moleculear thermal oscillator and constant heat current source

Published on: 4th December, 2019

OCLC Number/Unique Identifier: 8452126491

The demand for materials and devices that are capable of controlling heat flux has attracted many interests due to desire to attain new sources of energy and on-chip cooling. Excellent properties of DNA make it as an interesting nanomaterial in future technologies. In this paper, we aim to investigate the thermal flow through two sequence combinations of DNA, e.g, (AT)4 (CG)4 (AT)4 (CG)4 and (CG)8 (AT)8. Two interesting phenomena have been observed respectively. In the first configuration, an oscillatory thermal flux is observed. In this way, an oscillating heat flux from a stationary spatial thermal gradient is provided by varying the gate temperature. In the second configuration, the system behaves as a constant heat current source. The physical mechanism behind each phenomenon is identified. In the first case, it was shown that the transition between thermal positive conductance and negative differential conductance implies oscillatory heat current. In the latter, the discordance between the phonon bands of the two coupled sequences results in constant thermal flow despite of increasing in temperature gradient.
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A quantum mechanical model for hole transport through DNA: predicting conditions for oscillatory/non-oscillatory behavior

Published on: 9th March, 2020

OCLC Number/Unique Identifier: 8558600875

A quantum mechanical model that considers tunneling and inelastic scattering has been applied to explain the hole transfer reaction from a G (Guanine) base to a GGG base cluster through a barrier of Adenine bases, (A)n (n = 1-16). For n = 1, the ratio of tunneling to inelastic scattering is about 6, which is sharply decreased to around 0.23 and 5.23 × 10-8 for n = 4 and 16 respectively, suggesting dominance of inelastic scattering for n ≥ 4. As in experiment, the calculated product yield ratios (PGGG) exhibit a strong distance dependence for n < 4, and a weak distance dependence for n ≥ 4. We also predict conditions under which oscillatory or non-oscillatory charge transfer (CT) yield are expected.
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CRISPR genome editing: A general view

Published on: 23rd June, 2017

OCLC Number/Unique Identifier: 7317592004

CRISPR technology has presented a path forward for genomic engineering and gene modification. The framework for the use of CRISPR technology to manipulate the human genome is of great interest and the form of its development and application has excited the researchers and biotech communities as the number of publications citing CRISPR gene targeting system has rose predominantly as indexed in PubMed. From a technical standpoint of view, most of us think that this would be relatively straightforward process, but technical feasibility is never the only consideration in doing experiments. Much of the discussion about CRISPR engineering has revolved mostly around its ability for treating disease or editing the genes of human embryos. In the real sense, what the biologists desire about CRISPR is its specificity: the ability to target and determine particular DNA sequences in the genome circuit.
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Progress in the development of Lipoplex and Polyplex modified with Anionic Polymer for efficient Gene Delivery

Published on: 24th July, 2017

OCLC Number/Unique Identifier: 7317598455

Nucleic acid-based therapy has become an increasingly important strategy for treating a variety of human diseases. In systemic therapy, a therapeutic gene must be delivered efficiently to its target tissues without side effects. To deliver a therapeutic gene such as plasmid DNA (pDNA) or small interfering RNA (siRNA) to target tissues by systemic administration, cationic carriers such as cationic liposomes and polymers have been commonly used as a non-viral vector. However, the binary complex of therapeutic gene and cationic carrier must be stabilized in the blood circulation by avoiding agglutination with blood components, because electrostatic interactions between positively charged complexes and negatively charged erythrocytes can cause agglutination, and the agglutinates contribute to high entrapment of the therapeutic genes in the highly extended lung capillaries. One promising approach for overcoming this problem is modification of the surface of cationic complexes with anionic biodegradable polymers such as hyaluronic acid, chondroitin sulfate, or polyglutamic acid. As another approach, we recently developed a sequential injection method of anionic polymer and cationic liposome/therapeutic gene complex (cationic lipoplex) for delivery of a therapeutic gene into the liver or liver metastasis. In this review, we describe recent advances in the delivery of therapeutic genes by lipid- and polymer-based carrier systems using anionic polymers.
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Mesoscopic irreversible thermodynamics of morphological evolution kinetics of helical conformation in bioproteins ‘DNA’ under the isothermal isobaric conditions

Published on: 11th March, 2020

OCLC Number/Unique Identifier: 8570215259

The morphological evolution kinetics and instabilities of alpha helical peptide 3.613, which involves large amount of stored torsional elastic deformation energy (3-40 eV/molecule), is formulated by the variational method based on the connection between the rates of internal entropy production and the changes in the global Gibbs free energy, assuming that one has isobaric irreversible processes under the isothermal conditions. The present mesoscopic nonequilibrium thermodynamic approach relies on the fact that the global Gibbs free energy of helical conformation involves not only the bulk Gibbs free energy of the amino-acid back bone structure but also the interfacial Gibbs free energy of the enclosing cylindrical shell or the cage associated with the side-wall molecular branches, and their interactions with the immediate surroundings. The proposed variational analysis applied directly on the proposed macro-model has furnished a nonlinear integral equation in terms of the normalized and scaled internal and external variables. This allows us to track down the motion of the total pitch height of the alpha polypeptide along the well-defined trajectories in the displacement-time space, dictated not only by the initial configuration of the helix but also through the gradients of the global Gibbs free energy of the strained helical conformation as the main driving force. In the negative manifold, there is a well-defined region below the dynamic instability regime, in which the helical conformation can evolve towards the nonequilibrium stationary states by expanding, or contracting, depending upon whether the interfacial free energy and/or the applied stress system are below or above the well-defined thresholds level dictated by the initial pitch height. The highest life time may be realized along that trajectory, which follows up the threshold level of the interfacial specific Gibbs free energy, which is gs = -315 erg/cm2. In the upper region of the negative manifold, the helical conformations are driven by the very large applied uniaxial tension or the negative pressure induced by the thermal expansion, in the range of p > 1GPa and/or the strong negative interfacial free energies [3-4 pH] or their combinations, they show strong kinematic instabilities, which can cause not only the accelerated unfolding phenomenon but also cause large extensions that end up with the catastrophic decimations by ruptures and fragmentations. In the positive manifold, the aging behavior of the polypeptide follows up a S-shape path having rather speedy aging behavior compared to the negative manifold, which is separated from by a well-defined boundary, which represents the isochoric path having longest relaxation times, which can be achieved with great stability. Finally, one could attempt to estimate the upper limit of the relaxation time of aging for the modern hominin, from samples of exceptional preservations, relying on the present nonequilibrium theory as well as on the very limited knowledge on the post-mortem DNA and the present pitch heights of the modern hominin, which is found to be about 25,840 yrs, with a life expectation of 451,800 yrs. These figures are very close to those calculated for Neanderthals (SH), which are found to be 31,820 yrs and 499,100 yrs, respectively.
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The Trans-zoonotic Virome interface: Measures to balance, control and treat epidemics

Published on: 9th April, 2020

OCLC Number/Unique Identifier: 8870064677

The global virome: The viruses have a global distribution, phylogenetic diversity and host specificity. They are obligate intracellular parasites with single- or double-stranded DNA or RNA genomes, and afflict bacteria, plants, animals and human population. The viral infection begins when surface proteins bind to receptor proteins on the host cell surface, followed by internalisation, replication and lysis. Further, trans-species interactions of viruses with bacteria, small eukaryotes and host are associated with various zoonotic viral diseases and disease progression. Virome interface and transmission: The cross-species transmission from their natural reservoir, usually mammalian or avian, hosts to infect human-being is a rare probability, but occurs leading to the zoonotic human viral infection. The factors like increased human settlements and encroachments, expanded travel and trade networks, altered wildlife and livestock practices, modernised and mass-farming practices, compromised ecosystems and habitat destruction, and global climate change have impact on the interactions between virome and its hosts and other species and act as drivers of trans-species viral spill-over and human transmission. Zoonotic viral diseases and epidemics: The zoonotic viruses have caused various deadly pandemics in human history. They can be further characterized as either newly emerging or re-emerging infectious diseases, caused by pathogens that historically have infected the same host species, but continue to appear in new locations or in drug-resistant forms, or reappear after apparent control or elimination. The prevalence of zoonoses underlines importance of the animal–human–ecosystem interface in disease transmission. The present COVID-19 infection has certain distinct features which suppress the host immune response and promote the disease potential. Treatment for epidemics like covid-19: It appears that certain nutraceuticals may provide relief in clinical symptoms to patients infected with encapsulated RNA viruses such as influenza and coronavirus. These nutraceuticals appear to reduce the inflammation in the lungs and help to boost type 1 interferon response to these viral infections. The human intestinal microbiota acting in tandem with the host’s defence and immune system, is vital for homeostasis and preservation of health. The integrity and balanced activity of the gut microbes is responsible for the protection from disease states including viral infections. Certain probiotics may help in improving the sensitivity and effectivity of immune system against viral infections. Currently, antiviral therapy is available only for a limited number of zoonotic viral infections. Because viruses are intracellular parasites, antiviral drugs are not able to deactivate or destroy the virus but can reduce the viral load by inhibiting replication and facilitating the host’s innate immune mechanisms to neutralize the virus. Conclusion: Lessons from recent viral epidemics - Considering that certain nutraceuticals have demonstrated antiviral effects in both clinical and animal studies, further studies are required to establish their therapeutic efficacy. The components of nutraceuticals such as luteolin, apigenin, quercetin and chlorogenic acid may be useful for developing a combo-therapy. The use of probiotics to enhance immunity and immune response against viral infections is a novel possibility. The available antiviral therapy is inefficient in deactivating or destroying the infecting viruses, may help in reducing the viral load by inhibiting replication. The novel efficient antiviral agents are being explored.
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Fecal storage condition induces variations of microbial composition and differential interpretation of metagenomic analysis

Published on: 17th March, 2021

OCLC Number/Unique Identifier: 8999916387

Advances in metagenomics have facilitated population studies of associations between microbial compositions and host properties, but strategies to minimize biases in these population analyses are needed. However, the effects of storage conditions, including freezing and preservation buffer, on microbial populations in fecal samples have not been studied sufficiently. In this study, we investigated metagenomic differences between fecal samples stored in different conditions. We collected 46 fecal samples from patients with lung cancer. DNA quality and microbial composition within different storage Methods were compared throughout 16S rRNA sequencing and post analysis. DNA quality and sequencing results for two storage conditions (freezing and preservation in buffer) did not differ significantly, whereas microbial information was better preserved in buffer than by freezing. In a metagenomic analysis, we observed that the microbial compositional distance was small within the same storage condition. Taxonomic annotation revealed that many microbes differed in abundance between frozen and buffer-preserved feces. In particular, the abundances of Firmicutes and Bacteroidetes varied depending on storage conditions. Microbes belonging to these phyla differed, resulting in biases in population metagenomic analysis. We suggest that a unified storage Methods is requisite for accurate population metagenomic studies.
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Protection from the Pathogenesis of Neurodegenerative Disorders, including Alzheimer’s Disease, Amyotrophic Lateral Sclerosis, Huntington’s Disease, and Parkinson’s Diseases, through the Mitigation of Reactive Oxygen Species

Published on: 4th November, 2019

OCLC Number/Unique Identifier: 8302209826

The biological changes caused by oxidative stress (OS) are known to be involved in the etiology of neurodegenerative disorders, including Alzheimer’s disease, amyotrophic lateral sclerosis, Huntington’s disease, and Parkinson’s disease. The brain is particularly vulnerable to OS due to its high lipid content and extensive consumption of oxygen. OS processes, particularly the excessive production of reactive oxygen species (ROS), play a critical role in how neurodegenerative disorders develop. This is evidenced by in vivo studies investigating various biomolecules related to OS, such as products of lipid and DNA oxidation. Accordingly, ROS can also cause oxidative-related damage in neurodegenerative disorders, including dopamine auto-oxidation, mitochondrial dysfunction, glial cell activation, α-synuclein aggregation, excessive free iron, and changes in calcium signaling. Furthermore, excessive levels of cellular oxidants reduce antioxidant defenses, which in turn propagate the cycle of OS. As such, it is increasingly important to determine the linkage between a high intake of antioxidants through dietary interventions and a lower risk of developing neurodegenerative diseases. Indeed, in addition to modulating the immune system, optimal nutritional status is capable of changing various processes of neuroinflammation known to be involved in the pathogenesis of neurodegeneration. Accordingly, a better understanding of the role ROS plays in the etiology of neurodegeneration is needed, along with the identification of dietary interventions that may lead to improved therapeutic strategies for both the treatment and prevention of neurodegenerative disorders. Therefore, this review presents a comprehensive summary of the role of ROS in the pathogenesis of neurodegenerative disorders. In addition, nutrients believed to be useful for mitigating and counteracting ROS are discussed. 
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After human: The world of brain-net on earth

Published on: 25th January, 2021

OCLC Number/Unique Identifier: 8899339296

“The mind of man is capable of anything….because everything in in it, all the past as well as all the future [Joseph Conrad]”. Why I am using above quote and what is the relation to what point I am coining you will understand its relevant your own as you moving line by line of this write-up. This topic though complex to some people to get understand, but those has strong or at least average background of Space, Physics, Quantum Mechanics, Neuroscience and theory of evolution definitely acquire it. Near distance and physical face to face communication started with the evolution of humankind and changes in each evolution in DNA structure caused to changes in communication patterns from different phonetics to gestures, gestures to voice and voice to voice with different languages.
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Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?

Published on: 9th June, 2021

Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.
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A Genetic study in assisted reproduction and the risk of congenital anomalies

Published on: 12th October, 2021

OCLC Number/Unique Identifier: 9305465911

In vitro fertilization is one of the most common and effective procedure for thousands of couples worldwide who want to have a child and are unable to do so for various reasons. Diverse studies show that couples who conceive naturally after one year of trying had newborns with an increased risk of prematurity and low birth weight, compared with couples who conceived before completing one year of trying. Children from assisted reproduction (AR), have a 30% increased risk of prematurity and low birth weight, compared with children from infertile fathers. Regarding the conflicting results the present study aimed to record the frequency of genetic, congenital anomalies in children and adolescents who had examined in the last decade to the Clinical Genetics Clinic of the National and Kapodistrian University of Athens whose mothers had undergone assisted reproduction. The research process was conducted at the "Aghia Sofia" Children's Hospital based in Athens. However, the cases that were studied came from all over Greece. Initially, the researcher recorded the cases that came to the clinic of Clinical Genetics and whose conception occurred after technical assisted reproduction. After telephone communication and the consent of the parents, a live appointment was scheduled. In this meeting-interview all the provisions of the investigation and the protocol were asked and some elements of the medical history of the cases were confirmed. The total sample included 230 children and adolescents. The resulting data were recorded on a printed form/questionnaire. Then, they were registered electronically in the program SPSS 25.0 (Statistical Package for Social Sciences) with a specific unit code for each case/patient, followed by the processing and statistical analysis of the data as well as the recording of the results. The gender of the participants was male for 118 participants (51.3%) and 112 females (48.7%). Mean and standard deviation (SD) of maternal, paternal (at the time of delivery) age was equal to 36.38 (5.94) and 39.94 (6.58) respectively. The observed abdormalities were 35.53% psychomotor retardation, 23.68% facial abnormalities, 23.68% spinal cord abnormalities, 21.05% morphological abnormalities, 20.61% short stature, 19.74% developmental disorders, 19.30% heart disease, 16.67% neurological diseases, 14.47% genetic syndromes, 11.40% genital abnormalities, 8.33% limb abnormalities, 7.46% dermatological abnormalities, 6.14% eye abnormalities, 6.14% hypothyroidism, 5.70% endocrine disorders, 5.26%otolaryngology abnormalities, 2.63% disease of kidney, intestine, 2.19% vascular malformations. Regarding the karyotype chromosome analysis by G-banding technique, from the 230 children in: 24 (10.43%) a pathological result was found, in 158 children (68.70%) it was found normal (46, XX or 46, XY by case) without other findings, while in 48 children (20.87%) the test was not performed for various reasons. Regarding the results of molecular analysis (DNA) from the 230 children, in 50 (21.74%) a pathological finding was found, in 56 children (24.35%) no abnormalities were found and in 124 children (53.91%) no molecular analysis was performed for various reasons. In conclusion, the sample of this descriptive study is characterized as uniform in terms of the method of assisted reproduction since 96.24% had followed the classic IVF. Full-term pregnancy was associated with the appearance of malignancy and head morphological abnormalities (64.6%), normal pregnancy was associated with genetic syndromes (18.2%) and facial abnormalities (11.1%). It is recommended the screening oocyte and sperm donors in order to help protect the safety and health of donors, recipients, and future offspring. The present study confirms the association of the presence of congenital anomalies after in vitro fertilization (IVF). However, the absolute risk of developing severe dysplasias after an IVF procedure is limited.
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Ocular manifestations in a case of progeroid syndrome

Published on: 11th November, 2021

OCLC Number/Unique Identifier: 9335773745

Progeria syndromes are very rare genetic diseases characterized by premature aging changes. There are several phenotypes and variables noted in literature in some cases difficult to specifically classify a specific syndrome. It occurs due to mutation in DNA repair genes. The most common ocular findings are loss of eyebrow and eyelashes, brow ptosis, lid margin changes, entropion, Meibomian gland dysfunction, severe dry eye, corneal opacity, cataract, poor mydriasis, and rod-cone dystrophy. We report this case with all the above ocular manifestations in 19year old teenager with additional finding being retinal detachment.
Cite this ArticleCrossMarkPublonsHarvard Library HOLLISGrowKudosResearchGateBase SearchOAI PMHAcademic MicrosoftScilitSemantic ScholarUniversite de ParisUW LibrariesSJSU King LibrarySJSU King LibraryNUS LibraryMcGillDET KGL BIBLiOTEKJCU DiscoveryUniversidad De LimaWorldCatVU on WorldCat
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