Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism
Published on: 24th March, 2021
OCLC Number/Unique Identifier: 9272364196
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
Risk co-factors inducing malignant transformation of oral lichen planus: A literature review of clinical studies
Published on: 14th October, 2021
OCLC Number/Unique Identifier: 9324280980
Oral lichen planus (OLP) is an autoimmune chronic inflammatory disease. The potential risk of malignant transformation in OLP remains controversial. The aim of the present study was to review original clinical studies published in indexed databases, which assessed the potential risk cofactors which were implicated in the malignant transformation of oral lichen planus. We focused our search to include most of the studies that reported malignant transformation of oral lichen planus using different combinations of the following key indexing terms: oral lichen planus, malignant transformation, smoking, alcohol, chronic inflammation, candida, human papillomavirus (HPV), hepatitis C virus (HCV) and immunosuppression. The animal studies were excluded from our study. Despite a dearth of studies on this topic we have identified consumption of tobacco and/or alcohol, the presence of erosive and/or atrophic areas, infection with candida, HCV, HPV, and immunosuppression as significant cofactors. Patients with OLP with these risk co-factors are at risk of malignant transformation should, therefore be followed up for an extensive period or even for life.
Dermatomycoses in Pakistan; an urgent need for National Surveillance Programs
Published on: 10th May, 2022
Despite the rising burden of fungal infections across the globe, the World Health Organization's efforts remained questionable in fungal infection-related projects. Most of the developing countries consequently lost focus on the need for assessment and establishment of national surveillance set up or advanced technology hubs against mycological infections. The current study aimed to the determination of the local burden of cutaneous fungal infections in 2019-2021. Among 497 suspected fungal cultures, 22.5% depicted fungal growth. Among males, the prevalence of dermatomycosis was 0.75 times higher than in females. Penicillium species followed by Epidermophyton and Candida species were common among subjects of < 30 years of age. The Aspergillus spp, Penicillium spp, mucormycosis agents, and Candida albicans infections were more common among subjects 30 to 60 years of age. Aspergillus species were more commonly observed among patients > 60 of age. 22.2% of the fungal infections were Penicillium species, 9% of the infections were Aspergillus species, followed by 4.4% of Epidermophyton, mucormycosis, Candida species, and Candida albicans respectively. There is an urgent need for the establishment of national policy for the prevention of fungal disease.
Genetic variability, divergence, and path coefficient analysis of yield and yield related traits of Durum wheat (Triticum turgidum l. var. Durum) genotypes at Jamma district, south wollo zone, amhara region, Ethiopia
Published on: 4th July, 2022
OCLC Number/Unique Identifier: 9575033076
Durum wheat (Triticum turgidum L. var. durum) is a member of the Poaceae family and tetraploid (genomes of AABB) with 28 chromosomes (2n=4x=28). Narrow genetic variability was a problem to develop genotypes with better adaptation to different agro-ecologies. Therefore, the objective of this study was to investigate the genetic variability, divergence, and path coefficient analysis of durum wheat genotypes by using morphological traits and identifying essential yield-related traits of durum wheat, and to identify promising candidate genotypes to be used in future durum wheat breeding program. The study was carried out on 81 genotypes and the experiment was laid out in a triple lattice design with an arrangement of 9 x 9 x 3 treatment, which made 243 experimental units. Results obtained on genetic variability, path coefficient, and genetic divergent analysis among yield-related traits are presented here under the present study. Generally, the present study revealed the existence of significant genetic variability among the tested genotypes for different traits helpful for direct and indirect selection.This study recommended that the potential durum wheat genotypes 214552, 208150, 238516, 5645, Mekuye, 236984, 7960, 7152, 231599, and 208242 could be used for durum wheat breeding programs for yield and yield component traits improvement under similar agro-ecologies.
Pefloxacin and its derivative, novel inhibitors of the SARS-CoV-2 Main protease (3CLpro) and their pharmacokinetics prediction: An in silico analysis
Published on: 12th July, 2022
For over two years, COVID-19 pandemic has been a major global health concern and threat to human life. In the SARS-CoV2 macromolecules, the 3-chymotrypsin like protease (3CLpro or main protease) has been identified to be crucial and essential for viral survival, processing of the viral polyproteins and has been explored as a target in COVID-19 drug discovery. Although vaccines and other various inhibitors have been designed and launched, the emergence of the variant of this virus has put an unrelenting effort of researchers to this end. Also, the high cost of manufacturing these molecules coupled with the occurrence of drug resistance is a concern.Herein, Pefloxacin and its derivative for the first time were screened for their inhibitory activity against the SARS-CoV2 main protease through in silico analysis and their pharmacokinetic properties were evaluated. Interestingly, from the docking results, they both bind with high affinity at the active site of the protein. Moreover, they showed excellent pharmacokinetic and drug - likeness properties. Derivatization of Pefloxacin at the C7 position prevents its blood-brain barrier permeability. Overall, the dual antibacterial and potential antiviral activities of these two molecules make them promising drug candidates for COVID-19 management.
Identification, characterization of candida species isolated from cases of vulvovaginal candidiasis along with their antifungal susceptibility by vitek-2 system
Published on: 29th August, 2022
One of the most severe threats to world health is the Candida species. Many non-Candida species are the major cause of vulvovaginal candidiasis (VVC). During the development of VVC, the host environment and Candida vaginal colonization are assumed to be out of balance, and this might be owing to physiological or non-physiological changes. Host-related and behavioral risks have been connected to VVC. Novel antifungal medications with particular molecular targets may be developed with the use of molecular tools in epidemiological research and the study of resistant Candida species. Using the Vitek-2 Antifungal Susceptibility System, this review will explain the many approaches used to identify and characterize Candida species isolated from vulvovaginal candidiasis patients.
Percutaneous Atrial Septal Defect (ASD) closure technique in case of association with an azygos continuation of the inferior vena cava “case report”
Published on: 2nd December, 2022
Introduction: Atrial Septal Defect (ASD) is the most common congenital heart disease, accessible to percutaneous closure in 90% of cases. The closure procedure is performed usually under local anesthesia and TTE by femoral access. The association of OS-ASD with an azygos continuation of the inferior vena cava is very rare (< 0.1/1000 births) making femoral access impossible. Only a few cases are mentioned in the literature, here we describe the procedure as faithfully as possible. Important clinical finding: We present a case of a 32-years-old female candidate for percutaneous closure of OS-ASD with right cavity dilatation who present during her procedure an unusual guidewire path suspecting an azygos continuation of the inferior vena cava, confirmed by CT angiography, making impossible the closure via the femoral approach. Therapeutic intervention: After being confronted with the categorical patient refusal of the surgery, we performed successfully the procedure; one month later; under general sedation by internal jugular approach. We finished with manual compression before extubating the patient. Outcomes: The follow-up was favorable at the cost of a hematoma at the puncture site and brachial plexus compression, which regressed after 3 days. Conclusion: We opted for general anesthesia and intubation to guide the procedure by TEE. We placed it in the aorta, which gave us good stability to continue successfully the procedure. We underestimated the risk of complication at the puncture site, which could have been avoided by using a vascular suture device or more prolonged compression. Main takeaway lesson: Percutaneous closure is the reference treatment for OS-ASD. In case of is associated with an azygos continuation of the inferior vena cava, the right internal jugular vein remains a reasonable approach; it requires discussion and rigorous preparation by the whole team. The management of the puncture site in this situation remains delicate and requires great concentration.
Design and optimization of mRNAs encoding an Anti-TIGIT antibody with therapeutic potential for cancer in TIGIT-humanized BALB/c Mice
Published on: 7th April, 2023
mRNA drugs are synthesized using cell-free systems without complex and stringent manufacturing processes, which makes their preparation simple, efficient, and economical. Over the past few years, mRNAs encoding antibodies have been one of the research frontiers of antibody drug development. In cancer immunotherapy, mRNAs encoding immune checkpoint antibodies may be advantageous regarding antibody persistence and durability of the anti-tumor immune response of patients. In our previous study, a candidate antibody—AET2010—targeting the novel immune checkpoint TIGIT was reported. Its anti-tumor activity was also investigated using adoptive transfer of NK-92MI cells in a xenograft mouse model, but the limitations of the model did not facilitate precise evaluation. In the present study, we further investigated the therapeutic potential of AET2010 for cancer in TIGIT-humanized BALB/c mice. Next, we explored the design, synthesis, and optimization of mRNAs encoding AET2010 and ultimately obtained a candidate mRNA (mRNA-BU) with favorable in vitro and in vivo expression levels of active AET2010. Particularly, lipid-nanoparticle-encapsulated mRNA-BU delivered to mice produced AET2010 with significantly higher peak concentration and expression duration than an equivalent dose of original AET2010. This study provides a sound basis for developing novel drugs targeting TIGIT.
Expanding human-based predictive models capabilities using organs-on-chip: A standardized framework to transfer and co-culture human iPSCs into microfluidic devices
Published on: 13th April, 2023
There is an urgent need for predictive preclinical models to enhance the success rate of clinical trial outcomes. One of the main reasons for drug attrition is the lack of translational models, methods using human cells are particularly in the spotlight of regulatory bodies as they offer an alternative to in vivo studies and have the potential to improve the translational of preclinical trials. Organs-on-Chips (OoCs) are sensible candidates to reduce the cost and the ethical burden of animal models while accelerating and de-risking drug development. The innovation of such systems is based on both the increased relevance of the cells used and the ability to build precise, yet physiologically relevant, complex architectures. The use of microfluidic technologies with human induced pluripotent stem cells (hiPSCs) opens new routes to create relevant in vitro approaches as they will soon be able to reproduce clinical characteristics of donors or specific populations. The adoption of OoC models by pharmaceutical industries, and in fine by regulatory agencies, still requires: (i) establishing standardized, reproducible, robust, and replicable cell culture protocols with specific validation and characterization criteria, (ii) evidence that the technology predicts human responses, thus allowing to contribute efficiently and reliably to clinical trials success of novel therapeutics, and (iii) evidence that the models refine and reduce animal testing without compromising with the quality and the pertinence of the data generated.
Case Report of a Child with Beta Thalassemia Major in a Tribal Region of India
Published on: 8th September, 2023
Introduction: Thalassemia is an inherited blood disorder of haemoglobin (Hb) synthesis, which affects different regions around the world. India has the largest number of children with beta-thalassemia major in the world, particularly in the tribal population. Heterozygous conditions are milder and even go unreported than the condition of homozygous where regular blood transfusion is required.Case report: This report focuses on a case of major beta-thalassemia in a child, whose parents are beta thalassemia minor to intermediate conditions, and who was treated by blood transfusion once a month. However, Thalassemia may be cured by allogeneic hematopoietic stem cell transplantation, although not everyone is a good candidate. Genetic counselling, prenatal diagnosis, and selective termination of affected fetuses are effective ways to control thalassemia.Discussion and conclusion: The paper reports a unique case of Thalassemia in rural India. The blood disorder while commonly presented in a juvenile whose parents were Thalassemia positive resulted in the termination of a fetus diagnosed with it. It archives the story of the parents who are now in the process of planning future offspring while mitigating disease risk. The case leads the way for effective management and containment of hereditary genetic disorders through carrier detection while planning alliances and offspring.
Environmental Effects on the Norbornadiene-quadricyclane Photoswitch for Molecular Solar Thermal Energy Storage
Published on: 29th December, 2023
Today’s need for renewable energy combined with modern societies' reliability on on-demand power leads us to find solutions that can store excess or produce directly to storage for later use. A MOlecular Solar Thermal (MOST) based on norbornadiene/quadricyclane(NBD/QC) does the latter with an isomeric photoswitching molecule pair. The theoretical studies of molecular solar thermals (MOST) provide a needed understanding of potential synthetic candidates. We have investigated an array of more complex solvation models for the norbornadiene/quadricycle (NBD/QC) photoswitch and the impacts of the models on the first absorption energy. Our results have been obtained with various density functional theoretical methods and basis sets.
Is there a Place for Klotho in Alzheimer’s disease?
Published on: 29th February, 2024
Alzheimer’s disease, a major healthcare concern, lacks an effective pharmacological therapy to change its irreversible progression. In this work, we present Klotho, a protein associated with aging that is involved in the regulation of numerous physiological processes and is a serious candidate to be a pharmacological target to act on. Klotho’s mRNA has been found in neurons of a variety of brain regions (cortex, hippocampus). The best studied and prominent function of Klotho is as the co-receptor of fibroblast growth factor 23 (FGF23), through which Klotho controls renal phosphate excretion and vitamin D metabolism. Reduced serum levels of Klotho in mice have been associated with a shorter life expectancy and with numerous pathological conditions such as renal disease, vascular calcification, neurodegeneration, and others. Moreover, overexpression of Klotho leads to opposite effects resulting in increased survival rates. In this review we address different signaling pathways in which Klotho is involved in one way or another, focusing on those pathways that could serve as pharmacological targets to modify the evolution of Alzheimer’s disease. We describe how Klotho inhibits signaling cascades involved in cellular senescence, fibrosis, inflammation, and apoptosis all of which are mediated by tumor growth factor β (TGF- β), nuclear factor kappa K (NF- κ B), insulin-like growth factor 1 (IGF-1) or Wnt. We also highlight how Klotho is able to activate anti-inflammatory and antioxidant signaling pathways. Although there are no drugs that act specifically on Klotho, compounds currently on the market such as hormone-based drugs, pravastatin, losartan, fosinopril, and rapamycin have been shown to increase the expression of this protein and are also discussed.
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