Mitochondrial Cardiomyopathies

Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA) while more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs of various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20-40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular noncompaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain (ETC) complexes subunits and their assembly factors, mitochondrial tRNAs, rRNAs, ribosomal proteins, and translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia

STATE ESTIMATION IN ALCOHOLIC CONTINUOUS FERMENTATION OF ZYMOMONAS MOBILIS USING RECURSIVE BAYESIAN FILTERING: A SIMULATION APPROACH

This work presents a state estimator for a continuous bioprocess. To this aim, the Non Linear Filtering theory based on the recursive application of Bayes rule and Monte Carlo techniques is used. Recursive Bayesian Filters Sampling Importance Resampling (SIR) is employed, including different kinds of resampling. Generally, bio-processes have strong non-linear and non-Gaussian characteristics, and this tool becomes attractive. The estimator behavior and performance are illustrated with the continuous process of alcoholic fermentation of Zymomonas mobilis. Not too many applications with this tool have been reported in the biotechnological area

Presencia de Proscelidodon Patrius (Xenarthra, Scelidotheriinae) en la formación Chapadmalal (Plioceno Superior), Mar del Plata, Buenos Aires, Argentina: implicancias Bioestratigráficas

El objetivo del presente trabajo es dar a conocer y discutir las implicancias bioestratigráficas del primer registro de Proscelidodon patrius (Ameghino) para la Formación Chapadmalal (Plioceno superior), Mar del Plata, Buenos Aires, Argentina. Dicho espécimen se encuentra representado por un cráneo y mandíbula parcial en buen estado de preservación de un individuo juvenil.Fil: Taglioretti, Matias Luciano. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Geología de Costas y del Cuaternario; ArgentinaFil: Miño Boilini, Ángel Ramón. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Nordeste. Centro de Ecologia Aplicada del Litoral (i); ArgentinaFil: Scaglia, Fernando. Museo de Ciencias Naturales “Lorenzo Scaglia”; ArgentinaFil: Dondas, Alejandro. Museo de Ciencias Naturales “Lorenzo Scaglia”; Argentin

Titaniferous magnetite and barite from the san gregorio de polanco dike swarm, paraná magmatic province, uruguay

The San Gregorio de Polanco Dike Swarm (Tacuarembó Department, Uruguay) is the southernmost set of dikes in the Paraná Magmatic Province of Uruguay. Five major dikes have been identified with two main structural trends: N140º–N170º and N50º–N80º. The dikes have tholeiitic affinities and are composed of plagioclase (An55), augite and augite-pigeonite, relicts of olivine and opaque minerals. These rocks have high contents of Fe–Ti oxides (titanomagnetites), the mineralogical and textural characteristics of which have been studied using scanning electron microscopy and energy dispersive spectrometry techniques (SEM – EDS). These features, along with other mineralogical and textural relationships, have been used to propose the following crystallization sequence for the dikes: (i) crystallization of olivine, plagioclase and Ca-rich pyroxene phenocrysts; (ii) precipitation of the first population of Ti-magnetite; (iii) crystallization of plagioclase and pyroxene in the groundmass; (iv) partial dissolution of Ti-magnetite by reaction with magmatic fluids; (v) crystallization of the second population of Ti-magnetite and finally, (vi) crystallization of interstitial barite. ResumenEl Haz de Diques de San Gregorio de Polanco (Departamento de Tacuarembó, Uruguay) es la ocurrencia más meridional de diques pertenecientes a la Provincia Magmática Paraná en Uruguay. Fueron identificados cinco 5 diques principales con dos direcciones estructurales principales: N140º - N170º y N50º - N80º, respectivamente. Son diques de afinidad tholeítica compuestos por plagioclasa (An55), augita y augita-pigeonita, relictos de olivina y minerales opacos. Estos diques se caracterizan por el alto contenido de óxidos de Fe y Ti (titanomagnetitas), cuyas características mineralógicas y texturales fueron estudiadas con microscopio electrónico de barrido y espectrometría de energía dispersiva (SEM-EDS), incluyendo mapeos composicionales. Estas características junto con otras relaciones mineralógico-texturales presentes en estas rocas permitieron proponer la siguiente secuencia de cristalización: (i) cristalización de fenocristales de olivina, plagioclasa y piroxenos cálcicos; (ii) precipitación de una primera población de titanomagnetita, (iii) cristalización de plagioclasa y piroxenos conformando la matriz; (iv) disolución parcial de la primera población de titanomagnetitas por reacción con fluidos magmáticos; (v) cristalización de la segunda población de titanomagnetitas y finalmente, (vi) cristalización de barita intersticial

CONTROL BASED ON NUMERICAL METHODS AND RECURSIVE BAYESIAN ESTIMATION IN A CONTINUOUS ALCOHOLIC FERMENTATION PROCESS

Biotechnological processes represent a challenge in the control field, due to their high nonlinearity. In particular, continuous alcoholic fermentation from Zymomonas mobilis (Z.m) presents a significant challenge. This bioprocess has high ethanol performance, but it exhibits an oscillatory behavior in process variables due to the influence of inhibition dynamics (rate of ethanol concentration) over biomass, substrate, and product concentrations. In this work a new solution for control of biotechnological variables in the fermentation process is proposed, based on numerical methods and linear algebra. In addition, an improvement to a previously reported state estimator, based on particle filtering techniques, is used in the control loop. The feasibility estimator and its performance are demonstrated in the proposed control loop. This methodology makes it possible to develop a controller design through the use of dynamic analysis with a tested biomass estimator in Z.m and without the use of complex calculations

Leptospirosis

La Leptospirosis es una enfermedad infecciosa que el hombre contrae a través del contacto directo o indirecto con roedores, quienes constituyen el reservorio habitual de las Leptospiras. Tiene dos formas clínicas definidas: la Leptospirosis anictérica, que es la forma leve y se observa en el 90% de los casos y la Enfermedad de Weil, que es la forma grave, que se ve en el 10% restante. Es una enfermedad bifásica, con una base septicémica y una fase inmune. En el presente trabajo se expone cuatro casos clínicos que estuvieron internados en la Sala XVIII del HIGA San Martín de La Plata y se actualizan los criterios para el diagnóstico y el tratamiento de esta patología.Facultad de Ciencias Médica

Leptospirosis

La Leptospirosis es una enfermedad infecciosa que el hombre contrae a través del contacto directo o indirecto con roedores, quienes constituyen el reservorio habitual de las Leptospiras. Tiene dos formas clínicas definidas: la Leptospirosis anictérica, que es la forma leve y se observa en el 90% de los casos y la Enfermedad de Weil, que es la forma grave, que se ve en el 10% restante. Es una enfermedad bifásica, con una base septicémica y una fase inmune. En el presente trabajo se expone cuatro casos clínicos que estuvieron internados en la Sala XVIII del HIGA San Martín de La Plata y se actualizan los criterios para el diagnóstico y el tratamiento de esta patología.Facultad de Ciencias Médica

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with short stature, poor weight gain, dysmorphic features, and features of Fanconi anemia. COX4I1 encodes subunit 4, isoform 1 of cytochrome c oxidase. Cytochrome c oxidase is a respiratory chain enzyme that plays an important role in mitochondrial electron transport and reduces molecular oxygen to water leading to the formation of ATP. Defective production of cytochrome c oxidase leads to a variable phenotypic spectrum ranging from isolated myopathy to Leigh syndrome. Here, we describe two siblings, born to consanguineous parents, who presented with encephalopathy, developmental regression, hypotonia, pathognomonic brain imaging findings resembling Leigh‐syndrome, and a novel homozygous variant on COX4I1, expanding the known clinical phenotype associated with pathogenic variants in COX4I1

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of reliable biomarkers, and deficiencies in long-term natural history data sets remain substantial challenges in the increasingly active PMD therapeutic development space. Developing "FAIR" (findable, accessible, interoperable, reusable) data standards to make data sharable and building a more transparent community data sharing paradigm to access clinical research metadata are the first steps to address these challenges. This collaborative community effort describes the current landscape of PMD clinical research data resources available for sharing, obstacles, and opportunities, including ways to incentivize and encourage data sharing among diverse stakeholders. This work highlights the importance of, and challenges to, developing a unified system that enables clinical research structured data sharing and supports harmonized data deposition standards across clinical consortia and research groups. The goal of these efforts is to improve the efficiency and effectiveness of drug development and improve understanding of the natural history of PMD. This initiative aims to maximize the benefit for PMD patients, research, industry, and other stakeholders while acknowledging challenges related to differing needs and international policies on data privacy, security, management, and oversight