scholarly journals Understanding mitochondrial myopathies: a review

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e4790 ◽  
Author(s):  
Abhimanyu S. Ahuja
Keyword(s):  
Speech Therapy ◽  
Nuclear Dna ◽  
Severe Disease ◽  
Mitochondrial Diseases ◽  
The Body ◽  
Genetic Mutations ◽  
Mitochondrial Myopathies ◽  
Positive Side ◽  
Organ Systems ◽  
New Research

Mitochondria are small, energy-producing structures vital to the energy needs of the body. Genetic mutations cause mitochondria to fail to produce the energy needed by cells and organs which can cause severe disease and death. These genetic mutations are likely to be in the mitochondrial DNA (mtDNA), or possibly in the nuclear DNA (nDNA). The goal of this review is to assess the current understanding of mitochondrial diseases. This review focuses on the pathology, causes, risk factors, symptoms, prevalence data, symptomatic treatments, and new research aimed at possible preventions and/or treatments of mitochondrial diseases. Mitochondrial myopathies are mitochondrial diseases that cause prominent muscular symptoms such as muscle weakness and usually present with a multitude of symptoms and can affect virtually all organ systems. There is no cure for these diseases as of today. Treatment is generally supportive and emphasizes symptom management. Mitochondrial diseases occur infrequently and hence research funding levels tend to be low in comparison with more common diseases. On the positive side, quite a few genetic defects responsible for mitochondrial diseases have been identified, which are in turn being used to investigate potential treatments. Speech therapy, physical therapy, and respiratory therapy have been used in mitochondrial diseases with variable results. These therapies are not curative and at best help with maintaining a patient’s current abilities to move and function.

A review of mitochondrial disease in dogs

2021 ◽  
Vol 26 (10) ◽  
pp. 1-8
Author(s):  
Sergio A Gomes
Keyword(s):  
Mitochondrial Disease ◽  
Genetic Basis ◽  
Nuclear Dna ◽  
Mitochondrial Diseases ◽  
Unknown Origin ◽  
Eukaryotic Cells ◽  
Genetic Mutations ◽  
Ataxic Neuropathy ◽  
Clinical Syndromes ◽  
Cellular Organelles

Mitochondria are maternally inherited cellular organelles located in the cytoplasm of most eukaryotic cells. Mitochondrial diseases are a type of metabolic disorder, involving the respiratory chain under the control of both the mitochondrial DNA and nuclear DNA. In dogs, mitochondriopathies are considered rare, with few clinical syndromes having had their structural, biochemical and genetic basis identified. In this review, the basis for suspecting a mitochondrial disease clinically is summarised, with particular focus on mitochondrial encephalopathies, encephalomyelopathies and neuropathies. Recognisable confirmed mitochondriopathies including spongiform leukoencephalomyelopathy, Alaskan Husky encephalopathy, Leigh-like subacute necrotising encephalopathy and sensory ataxic neuropathy in the Golden Retriever are described in detail, alongside previously reported individual cases of presumptive mitochondriopathies of unknown origin. Genetic mutations reported in the literature are reviewed. A clear classification for mitochondrial diseases in veterinary medicine is lacking, and this review is the first to address this class of diseases specifically in dogs.

Touchy-Feely History: The ‘Stuff’ of American Culture

2015 ◽  
Vol 4 (1) ◽  
pp. 4-18
Author(s):  
Lauren Rebecca Sklaroff
Keyword(s):  
Material Culture ◽  
Cultural History ◽  
Race And Ethnicity ◽  
The Body ◽  
Special Issue ◽  
Historical Significance ◽  
Research Perspectives ◽  
Economic Trends ◽  
Recent Trends ◽  
New Research

This state of the field essay examines recent trends in American Cultural History, focusing on music, race and ethnicity, material culture, and the body. Expanding on key themes in articles featured in the special issue of Cultural History, the essay draws linkages to other important literatures. The essay argues for more a more serious consideration of the products within popular culture, less as a reflection of social or economic trends, rather for their own historical significance. While the essay examines some classic texts, more emphasis is on work published within the last decade. Here, interdisciplinary methods are stressed, as are new research perspectives developing by non-western historians.

Perbedaan Efektivitas Pemberian Origami Dan Playdough Terhadap Perkembangan Pada Anak Prasekolah Kelompok A Di TK Aisyiyah Bustanul Athfal Kota Kediri

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Halimatus Saidah ◽  
Yunida Septiyanty
Keyword(s):  
Child Development ◽  
Sampling Technique ◽  
The Body ◽  
Purposive Sampling ◽  
Organ Systems ◽  
Post Test ◽  
Group A ◽  
Key Words Development ◽  
Children Development ◽  
Research Show

ABSTRAKPerkembangan (development) adalah bertambahnya kemampuan atau fungsi semua sistem organ tubuh sebagai akibat bertambahnya kematangan atau maturitas fungsi sistem organ tubuh (Dewi, 2013). Tujuan penelitian ini adalah mengetahui perbedaan efektivitas pemberian origami dan playdough terhadap perkembangan pada anak prasekolah kelompok A di TK Aisyiyah Bustanul Athfal tahun 2018.Desain penelitian yang digunakan adalah penelitian pre eksperiment dengan pendekatan pre-test and post-test Design. Populasi yang diteliti adalah seluruh anak kelompok A di TK Aisyiyah Bustanul Athfal berjumlah 56 anak dengan teknik purposive sampling diperoleh sampel 36 responden. Instrumen penelitian yang digunakan adalah lembar KPSP. Hasil penelitian kemudian dianalisa dengan menggunakan wilcoxon signed rank.Hasil penelitian yang dilakukan menunjukan bahwa perkembangan anak sebelum pelaksanaan pemberian Origami didapatkan setengahnya perkembangan anak meragukan, setelah pelaksanaan didapatkan hampir seluruhnya perkembangan anak sesuai. Perkembangan anak sebelum pelaksanaan pemberian Playdough didapatkan sebagian besar perkembangan anak meragukan, setelah pelaksanaan didapatkan sebagian besar perkembangan anak sesuai. Hasil analisis menunjukkan ada pengaruh pemberian permainan origami dan permainan Playdough terhadap perkembangan anak kelompok A di TK Aisyiyah Bustanul Athfal Tahun 2018 dengan hasil ρ-value = 0,001 ɑ = 0,05 dari kelompok origami dan ρ-value = 0,007 ɑ = 0,05 dari kelompok playdough, sedangkan hasil analisis perbedaan adanya perbedaan efektivitas pengaruh pemberian permainan origami dan playdough terhadap perkembangan anak pada kelompok A di TK Aisyiyah Bustanul Athfal Tahun 2018 dengan hasil ρ-value = 0,043 ɑ = 0,05.Berdasarkan hasil penelitian dapat disimpulkan ada pengaruh permainan origami dan playdough terhadap perkembangan anak pada kelompok A di TK Aisyiyah Bustanul Athfal Tahun 2018. Diharapkan kepada orang tua maupun guru untuk lebih meningkatkan frekuensi dalam memberi stimulus permainan terutama permainan origami yang diberikan kepada anak. Kata Kunci : Perkembangan , Anak Prasekolah,  Origami, Playdough ABSTRACTDevelopment is increasing ability or function of all organ systems of the body as a result of increasing maturity or maturity function of the organ system of the body (Dewi, 2013). The purpose of this research is to know the effectiveness difference of origami and playdough on development in preschoolers group A in Aisyiyah Bustanul Athfal Kindergarten in 2018.The research design used is research pre eksperiment with approach pre-test dan post-test. The population studied was all group A children in kindergarten Aisyiyah Bustanul Athfal amounted to 56 children with purposive sampling technique obtained sample 36 respondents. The research instrument used is KPSP sheet. The results were then analyzed by using wilcoxon signed rank.The results of the research show that the development of children before the implementation of giving Origami found half of child development doubt, after the implementation is obtained almost entirely the child's development accordingly. Child development prior to the implementation of Playdough gift obtained most of the development of children doubt, after the implementation is obtained most of the child's development accordingly.  The results of the analysis show that there is an effect of giving origami game and Playdough game to the child development group A in Aisyiyah Bustanul Athfal Kindergarten Year 2018 with the result ρ-value = 0.001 ɑ = 0.05 from the origami group and ρ-value = 0.007 ɑ = 0.05 of the playdough group, while the result of difference analysis that is difference between origami and playdough influence to children development in group A diiyah Aisyiyah Bustanul Athfal Year 2018 with result of ρ-value = 0,043 ɑ = 0,05.Based on the research results can be concluded there is influence of origami and playdough on the development of children in group A in Aisyiyah Bustanul Athfal Kindergarten Year 2018. Expected to parents and teachers to increase the frequency of giving stimulus especially the origami given to the child. Key Words : Development, children preschool, Origami, Playdough

scholarly journals Cytomegalovirus Infection and Inflammation in Developing Brain

Viruses ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1078
Author(s):  
Fran Krstanović ◽  
William J. Britt ◽  
Stipan Jonjić ◽  
Ilija Brizić
Keyword(s):  
Cytomegalovirus Infection ◽  
Hcmv Infection ◽  
Severe Disease ◽  
Intraperitoneal Administration ◽  
Inflammatory Factors ◽  
Mcmv Infection ◽  
Newborn Mice ◽  
Organ Systems ◽  
Congenital Hcmv Infection ◽  
The Brain

Human cytomegalovirus (HCMV) is a highly prevalent herpesvirus that can cause severe disease in immunocompromised individuals and immunologically immature fetuses and newborns. Most infected newborns are able to resolve the infection without developing sequelae. However, in severe cases, congenital HCMV infection can result in life-threatening pathologies and permanent damage of organ systems that possess a low regenerative capacity. Despite the severity of the problem, HCMV infection of the central nervous system (CNS) remains inadequately characterized to date. Cytomegaloviruses (CMVs) show strict species specificity, limiting the use of HCMV in experimental animals. Infection following intraperitoneal administration of mouse cytomegalovirus (MCMV) into newborn mice efficiently recapitulates many aspects of congenital HCMV infection in CNS. Upon entering the CNS, CMV targets all resident brain cells, consequently leading to the development of widespread histopathology and inflammation. Effector functions from both resident cells and infiltrating immune cells efficiently resolve acute MCMV infection in the CNS. However, host-mediated inflammatory factors can also mediate the development of immunopathologies during CMV infection of the brain. Here, we provide an overview of the cytomegalovirus infection in the brain, local immune response to infection, and mechanisms leading to CNS sequelae.

scholarly journals Treatment for mitochondrial diseases

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Tongling Liufu ◽  
Zhaoxia Wang
Keyword(s):  
Clinical Trials ◽  
Nuclear Dna ◽  
Mitochondrial Diseases ◽  
Cochrane Collaboration ◽  
Potential Bias ◽  
Leber Hereditary Optic Neuropathy ◽  
Pharmacological Agents ◽  
Unpublished Studies ◽  
New Treatment ◽  
Allotopic Expression

AbstractMitochondrial diseases are predominantly caused by mutations of mitochondrial or nuclear DNA, resulting in multisystem defects. Current treatments are largely supportive, and the disorders progress relentlessly. Nutritional supplements, pharmacological agents and physical therapies have been used in different clinical trials, but the efficacy of these interventions need to be further evaluated. Several recent reviews discussed some of the interventions but ignored bias in those trials. This review was conducted to discover new studies and grade the original studies for potential bias with revised Cochrane Collaboration guidelines. We focused on seven published studies and three unpublished studies; eight of these studies showed improvement in outcome measurements. In particular, two of the interventions have been tested in studies with strict design, which we believe deserve further clinical trials with a large sample. Additionally, allotopic expression of the ND4 subunit seemed to be an effective new treatment for patients with Leber hereditary optic neuropathy.

scholarly journals Congenital Lumbar Hernia in an 8-Month-Old Boy

2021 ◽  
Vol 15 (1) ◽  
pp. 431-435
Author(s):  
Mohamed Mansy ◽  
Mostafa Kotb ◽  
Mohamed Abouheba
Keyword(s):  
Congenital Anomalies ◽  
Lumbar Hernia ◽  
The Body ◽  
Age Group ◽  
Pediatric Age ◽  
Operative Repair ◽  
Pediatric Age Group ◽  
Organ Systems

Congenital lumbar hernias are uncommonly seen in the pediatric age group, with only about 60 cases reported in the literature. It is usually accompanied by a multitude of congenital anomalies involving different organ systems of the body. For instance, it may involve the ribs, spine, muscles, and the kidneys. Herein, we report a case of congenital lumbar hernia in an 8-month-old boy who underwent an operative repair using a mesh with an uneventful outcome.

scholarly journals Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases

2021 ◽  
Vol 22 (2) ◽  
pp. 551
Author(s):  
Luis Sendra ◽  
Alfredo García-Mares ◽  
María José Herrero ◽  
Salvador F. Aliño
Keyword(s):  
Mitochondrial Dna ◽  
Nuclear Dna ◽  
Genetic Disorders ◽  
Mitochondrial Diseases ◽  
Legal Regulation ◽  
Donor Oocyte ◽  
Legal Position ◽  
Ethical And Legal Issues ◽  
Mitochondrial Replacement Techniques ◽  
Do So

Background: Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. Methods: A bibliographic review was performed on the MEDLINE and Web of Science databases, along with searches for related clinical trials and news. Results: A total of 48 publications were included for review. Five MRT procedures were identified and their efficacy was compared. Three main risks associated with MRTs were discussed, and the ethical views and legal position of MRTs were reviewed. Conclusions: MRTs are an effective approach to minimizing the risk of transmitting mtDNA diseases, but they do not remove it entirely. Global legal regulation of MRTs is required.

scholarly journals The Act of Controlling Adult Stem Cell Dynamics: Insights from Animal Models

Biomolecules ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 667
Author(s):  
Meera Krishnan ◽  
Sahil Kumar ◽  
Luis Johnson Kangale ◽  
Eric Ghigo ◽  
Prasad Abnave
Keyword(s):  
Stem Cells ◽  
Animal Models ◽  
Adult Stem Cells ◽  
The Body ◽  
In Vivo Studies ◽  
Self Renewal ◽  
Hematopoietic Stem ◽  
Organ Systems

Adult stem cells (ASCs) are the undifferentiated cells that possess self-renewal and differentiation abilities. They are present in all major organ systems of the body and are uniquely reserved there during development for tissue maintenance during homeostasis, injury, and infection. They do so by promptly modulating the dynamics of proliferation, differentiation, survival, and migration. Any imbalance in these processes may result in regeneration failure or developing cancer. Hence, the dynamics of these various behaviors of ASCs need to always be precisely controlled. Several genetic and epigenetic factors have been demonstrated to be involved in tightly regulating the proliferation, differentiation, and self-renewal of ASCs. Understanding these mechanisms is of great importance, given the role of stem cells in regenerative medicine. Investigations on various animal models have played a significant part in enriching our knowledge and giving In Vivo in-sight into such ASCs regulatory mechanisms. In this review, we have discussed the recent In Vivo studies demonstrating the role of various genetic factors in regulating dynamics of different ASCs viz. intestinal stem cells (ISCs), neural stem cells (NSCs), hematopoietic stem cells (HSCs), and epidermal stem cells (Ep-SCs).

The Basics of Microbiology

2021 ◽  
Author(s):  
Werner Solbach
Keyword(s):  
Infectious Diseases ◽  
Defense Mechanisms ◽  
Wide Spectrum ◽  
Severe Disease ◽  
Laboratory Diagnosis ◽  
Asymptomatic Infection ◽  
The Body ◽  
Sufficient Evidence ◽  
Effective Measure ◽  
Hygiene Measures

Microorganisms constitute 70 percent of the biomass on Planet Earth. Comparatively few species are adapted to colonize human surfaces and form a complex Meta-Organism with manyfold mutual benefits. Occasionally, microorganisms may overcome the barriers of the skin and mucosal surfaces and may multiply locally or in multiple sites inside the body. This process is called infection. Infections can be caused by bacteria, viruses, parasites, helminths, and fungi. Immediately after infection, numerous defense mechanisms of the immune system are activated to combat replication of the microbes. There is a balance between microorganism and human defense mechanisms, which may lead to either asymptomatic infection or result in a wide spectrum of symptoms from mild to severe disease and even death. The most important factors in the diagnosis of infectious diseases are a careful history, physical examination and the appropriate collection of body fluids and tissues. Laboratory diagnosis requires between 2 and 72 hours. Wherever possible, antibiotics should only be used when sufficient evidence of efficacy is available. Then, however, they should be used as early as possible and in high doses. In addition to everyday hygiene measures, vaccination is the most effective measure to prevent infectious diseases.

Taxonomic description and 3D modelling of a new species of myzostomid (Annelida, Myzostomida) associated with black corals from Madagascar

Zootaxa ◽  
2017 ◽  
Vol 4244 (2) ◽  
pp. 277 ◽  
Author(s):  
LUCAS TERRANA ◽  
IGOR EECKHAUT
Keyword(s):  
New Species ◽  
Phylogenetic Analyses ◽  
Three Dimensional ◽  
Close Relation ◽  
Ventral Side ◽  
Middle Part ◽  
The Body ◽  
Taxonomic Description ◽  
Black Corals ◽  
Organ Systems

Eenymeenymyzostoma nigrocorallium n. sp. is the first species of myzostomid worm associated with black corals to be described. Endoparasitic specimens of E. nigrocorallium were found associated with three species of antipatharians on the Great Reef of Toliara. Individuals inhabit the gastrovascular ducts of their hosts and evidence of infestation is, most of the time, not visible externally. Phylogenetic analyses based on 18S rDNA, 16S rDNA and COI data indicate a close relation to Eenymeenymyzostoma cirripedium, the only other species of the genus. The morphology of E. nigrocorallium is very unusual compared to that of the more conventional E. cirripedium. The new species has five pairs of extremely reduced parapodia located on the body margin and no introvert, cirri or lateral organs. Individuals are hermaphroditic, with the male and female gonads both being located dorsally in the trunk. It also has a highly developed parenchymo-muscular layer on the ventral side, and the digestive system lies in the middle part of the trunk. A three-dimensional digital model of this worm’s body plan has been constructed whereby the external morphology and in toto views of the observed organ systems (nervous, digestive and reproductive) can be viewed on-screen: http://doi.org/10.13140/RG.2.2.17911.21923. 

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