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  • Advances in Diagnosis of Mitochondrial Diseases: Case Report of an Infant with Pearson Syndrome

    Pearson syndrome (PS) is a mitochondrial disorder that presents in early infancy as a multisystemic disease affecting the bone marrow and pancreas. It may present with anemia, diarrhea, exocrine pancreatic dysfunction, and failure to thrive.[1] Delay in diagnosis can lead to severe morbidity and mortality in infancy. We report the case of a 9-month-old presenting with failure to thrive, severe macrocytic anemia and pancytopenia initially thought to have gastroesophageal reflux and feeding intolerance. Severe macrocytic anemia and pancytopenia prompted an early bone marrow evaluation. Abnormal bone marrow findings including vacuolated marrow precursors and ringed sideroblasts along with persistent mild lactic acidosis led to a rapid and extensive genetics workup. Whole exome sequencing including mitochondrial genome sequencing detected a 2.3 kb heteroplasmic deletion in m.12113_14421 encompassing the MT-ND5 gene consistent with the diagnosis of Pearson Syndrome. This case report highlights the advances in molecular genetic testing to diagnose patients with complex medical histories along the spectrum of mitochondrial diseases and the importance of early diagnosis to start treatment.

  • Paleontology vs. Archaeology in the French Riviera volcanism : crystallized Permian animals and dinosaur skeletons in andesitic rocks, and human remains from the medieval times

    This letter details principles of fossilization that matter for the study of fossils in general, but with a preference for sites next to volcanic areas.

  • NEW TRENDS IN TREACHER COLLINS SYNDROME: BONY RECONSTRUCTION AND REGENERATIVE THERAPY

    Aim:Treacher Collins syndrome is a rare congenital disorder of craniofacial development with a highly variable pheonotype. This syndrome occurs with an incidence of 1:50,000, and more than 60% of the cases have no previous family history and arise as the result of de novo mutations. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding. Deformation of facial structures produces a characteristic appearance that includes malar-zygomatic hypoplasia, periorbital soft tissue anomalies, maxillomandibular hypoplasia, and ear anomalies. Management requires a specialized craniofacial team, as comprehensive care starts at birth and may require life-long follow-up. Standard craniofacial procedures for bony and soft tissue reconstruction are used. This article outlines current treatment strategies and future concepts for surgical and regenerative management. Methods:The new field of regenerative medicine and therapy offers the promise to improve some of these treatments. In particular, Structural Fat Grafting (lipostructure) seems to be a good strategy to restore the normal volume and contour of the face, and to provide a source of adipose-derived stem cells (ADSCs) with a multilineage differentiation potential. In this work, we present the case of a young girl with Treacher Collins Syndrome who underwent serial sessions of fat grafting in addition to other surgical bony reconstructive techniques. ADSCs have been isolated from the patient’s lipoaspirate, and compared for their stemness properties with those of a healthy subject. Conclusion:Screening of the genome of the Treacher Collins patient using array-Comparative Genomic Hybridization (array-CGH) allowed us to identify some chromosomal imbalances that are probably associated with the syndrome.Correction of these imbalances and asymmetries by modulating ADSCs could be an innovative approach to improve and stabilize the results of the surgical treatment of Treacher Collin Syndrome.

  • Behind transgender identities – the biophysics & the societal deficits creating the phenomenon

    Transgender identities, with or without surgical changes are produced by individual decisions which resonate nevertheless with a series of information deficits and also spill from the biophysical effects of artificial sources of contamination. Findings from other researchers and the author’s experience are brought together to prove the point.

  • Long COVID-19 syndrome precaution and management

    COVID-19 virus defined as illness caused by a novel coronavirus which first discovered in Wuhan City, China. And On January 30, 2020, the WHO awarded the global health emergency. This is a review of COVID-19’s highly affects on almost all the organs and how we precaution and management as the COVID-19 causes many systemic abnormalities like inflammation, endotheliitis, vasoconstriction, hypercoagulability, edema and Lymphocytopenia, with elevated D-dimer, and disseminated intravascular coagulation. Deep vein thrombosis and venous, thrombosis with pulmonary embolization, systemic and pulmonary arterial thrombosis, embolism are reported, ischemic stroke changes, and myocardial infarction are reported also. it can lead to acute coronary syndrome, with heart failure and myocarditis, arrhythmias. Kidney affection was usually secondary to systemic allover disturbances. Stroke may occurred. Delirium and seizures symptoms are common. impaired the tastes are reported with Psychological disturbances are commonly, Lactate dehydrogenase may be elevated. Many skin manifestations including patchy erythematous rash are noticeable, also effects in sexual function and in vitro fertilization success. One of the biggest barriers standing in the way of ending the pandemic the misinformation about the COVID-19 vaccines. At this critical time the Demand for vaccines very effective as it rigorously tested and found to be safe, also Vaccines have no effect on recipients’ genetic material and not effect on fertilization also Antibodies from are estimated to last two to four months, so those who have had a previous infection still get this vaccinated.

  • Post-COVID 19 Experience of Space empty of Matter: Germination of a new science across Zero-Point-Energy

    A profound and lasting experience has the power to change the Worldview. For a scientist, this may be the reason for genesis of a path-making theory. The experience of space empty of matter by post-COVID 19 sufferers, amongst whom are many scientists, is expected to bring zero-point energy (ZPE) state in focus again, with the beginning of a new science across ZPE.

  • Design and Implementation of an Eye-Controlled Self-Driving Wheelchair

    The purpose of this paper is to develop a mechatronic system, the Eye-Controlled Self-Driving Wheelchair (ECSDW), that can help paralyzed, handicapped or any peoples who have an injury in their upper part of the body to be easily and successfully navigate autonomously from one position to another within indoor environments while avoiding obstacles dynamically. This research aims to present a unique approach which can be achieved inexpensively and has the eye-controlled additional property with robust autonomous assistive navigation when compared to a commercial existing wheelchair. The proposed ECSDW system platform is capable of localization and mapping, as well as robust obstacle avoidance, using only a commodity RGB-D sensor and wheel odometry. The development of the proposed ECSDW system was firstly carried by simulating the navigation of the wheelchair using Gazebo and Rviz running in ROS. Secondly, the hardware was assembled and built and the ROS nodes were implemented using Python programming language. Finally, the GUI was designed and implemented for a custom map so that, the disabled user can stare to a specific location using the GUI, with the help of eye-tracker sensor, which accepts directed eye signals and direct the wheelchair to navigate to the desired position autonomously.

  • Effects of Radiation and Heat Generation on Magnetohydrodynamic Free Convection Flow along a Horizontal Cylinder with Conduction

    In this paper, the flow characteristics and the heat transfer process due to natural convection and conduction along a horizontal cylinder in presence of radiation, magnetic and heat generation effects are examined. The effects of radiation, magnetic and heat generation on electrically conducting fluid in natural convective flow along a non-linear system of partial differential equations is reduced to local non-similar horizontal cylinder with conduction have been studied in this paper. The governing boundary layer equations for this phenomenon are transformed into a non-dimensional form and the resulting partial differential forms by adopting appropriate suitable transformations. The transformed boundary layer equations are then solved numerically by using the implicit finite difference method. Numerical results of the velocity profiles and temperature distribution, coefficient of local skin friction and local rate of heat transfer distribution for the Prandtl number, radiation, magnetic and heat generation parameters are presented graphically. Detailed discussion is given for the effects of the aforementioned parameters. Significant effect is found in heat transfer distribution for Prandtl number and radiation parameter. The thermal boundary layer thickness of Prandtl number is clearer than radiation parameter. Important effect is found in heat transfer distribution in Heat Generation effect. An excellent graph is found in magnetic effect for heat transfer profile, which is as like as a spiral situation.

  • Homeopathy to post study of 2nd wave covid 19

    This is a case-related studies article on how homeopathy may be used to control corona virus, specifically, those with above 20 ages to forty age five individuals and 40 to 70 age 7 persons. Symptoms of corona human beings decided on a personal hobby. to used 60 above aged person homeopathy is a best medicine integrative approach, this study is home isolation patents, breathless people also survived the sickness via homeopathic drugs, use these homeopathic medicines every 2 hours once with the stage of the problem, corona virus disease completely controls, so preventive homeopathy medicine is best option to continue after control, So it is right to have worldwide utilized.

  • OPEN LATARJET PROCEDURE FOR THE MANAGEMENT OF ANTERIOR INSTABILITY OF THE GLENOHUMERAL JOINT

    We report in the light of a literature review the results of 10 patients followed for anterior instability of the gleno-humeral joint treated by open Latarjet procedure between January 2017 and December 2020 with a view to a prospective study with longer following up and a greater number of patients.