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Copyright of GeSec: Revista de Gestao e Secretariado is the property of Sindicato das Secretarias e Secretarios do Estado de Sao Paulo (SINSESP) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Osteoarthritis (OA) is a complex multifactorial disease. The association of knee OA risk with ACE gene rs4343 polymorphism, gene environment synergistic effect, and angiotensin II serum level has not been previously examined. Therefore, we investigate the ACE gene rs4343 polymorphism in knee OA, and its association with severity of knee OA, and angiotensin II serum level. Using a case–control design, we recruited 200 subjects (100 cases and 100 controls) and all were subjected to genotyping of rs4343 SNP by real-time polymerase chain reaction and assay of serum angiotensin II level by ELISA. G containing genotypes (AG and GG) and G allele frequencies of the ACE rs4343 polymorphism were significantly higher in the case group than that in the control group. There was significant association between ACE rs4343 genotypes and risk of knee OA under the following genetic inheritance models: GG vs. AA (P = 0.003), AA vs. GG/AG (P = 0.014), AG/AA vs. GG (P = 0.037), and G vs. A (P < 0.001). Stratified analyses showed ACE rs4343 polymorphism was evidently associated with a significantly increased risk of knee OA among those had BMI ≥ 25% (adjusted OR = 3.016; 95% CI 1.052–8.648; P = 0.040). Additionally, knee OA patients with GG genotype had greater knee specific WOMAC index, Kellgren score, and serum angiotensin II level than those with AA or GA genotypes. The investigated polymorphism in the ACE gene rs4343 may reflect the risk and severity of knee OA in the Egyptian population, particularly with the GG genotype. The interaction between ACE gene rs4343 polymorphism and obesity further increased the risk of knee OA. Moreover, the higher angiotensin II level may be involved in the pathogenesis of knee OA. [ABSTRACT FROM AUTHOR]

Epidermolytic ichthyosis (EI) is an autosomal dominant genetic disease that is part of the keratinopathic ichthyosis (KPI) group (1). It affects 1 in every 200,000 to 300,000 newborns, resulting from a variant in the KRT1 or KRT10 gene that encodes keratin 1 and 10 respectively; proteins present in the keratinocytes of the suprabasal layers of the epidermis, where they form bundles of tonofibrils and serve as early markers of cellular differentiation (2). At birth, patients present erythroderma and blisters, due to the fragility of the cytoskeleton of the epidermal cells and the collapse of the keratin filaments. Skin changes evolve over time to hyperkeratosis (3). We present two cases of patients with EI, in which the genetic study played a key role in the specific diagnosis, helping to establish a targeted treatment, establish prognoses and asses the risk of heritability, bringing us closer to precision medicine. [ABSTRACT FROM AUTHOR]

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El Síndrome de Sjögren (SS) es una enfermedad autoinmune de carácter sistémico, que afecta principalmente al sistema glandular exocrino, generando un funcionamiento anormal de las glándulas lacrimales y salivales. Objetivo: proporcionar una actualización sobre la identificación de nuevos biomarcadores y mecanismos moleculares implicados en la fisiopatogénesis del SS. Método: Revisión narrativa de la literatura en diferentes bases de datos, mediante la búsqueda de términos descritos incluidos en los tesauros MESH y DeCs, para artículos publicados a partir del año 2018. Resultados: presentamos evidencia que destaca la identificación de nuevos biomarcadores y mecanismos implicados en la fisiopatogénesis del SS, describiendo las vías de: linfocitos B, catepsina S, cistatina C, quimioquina C-X3-C modificada de ligando 1, quimiocina regulada por activación del timo, células T, proteína morfogenética ósea 6, estimulación del receptor de oxitocina, receptor de zinc, calponina-3. Conclusión: los avances en la tecnología facilita el análisis detallado de la genética y fisiopatogénesis del SS, impulsando el desarrollo de terapias específicas. La búsqueda de biomarcadores no invasivos responde a las limitaciones de los métodos existentes y la invasividad de las biopsias salivales, prometiendo mejoras diagnósticas y terapéuticas

Las enfermedades quísticas renales son condiciones frecuentes cuya etiología puede ser muy heterogénea, por lo que se requiere un adecuado abordaje para su diagnóstico y manejo. El objetivo de este trabajo fue ilustrar parte del espectro de la enfermedad renal quística por medio de casos clínicos manejados en la Fundación Valle del Lili. Se describen 11 casos clínicos que incluyen enfermedades como displasia multiquística renal, enfermedad poliquística renal autosómica dominante y autosómica recesiva, entre otras. Las enfermedades quísticas renales varían en su presentación clínica, historia natural, hallazgos imagenológicos, bases genéticas y fisiopatológicas, por consiguiente, el enfoque diagnóstico y el manejo integral se debe realizar de forma individualizada y con un abordaje multidisciplinario.

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction. Hirschsprung's disease (HD) is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the colon as a result of disorders in the migration and differentiation of enteric neural crest cells during embryogenesis. It is a cross-factor condition, with more than 11 genes identified in its pathogenesis, including the RET proto-onco gene. Case report. We present the case of two siblings with total colon HD where a potentially pathogenic variant of the RET gene was found. Their father also had this condition. Discussion. Prenatal diagnosis through genetic testing allows for informed decisions and care planning for the newborn, thus reducing delayed diagnosis and treatment, and minimizing longterm complications. Mutations such as the RET gene variant highlight the importance of the genetic approach in understanding and managing HD. [ABSTRACT FROM AUTHOR]

Copyright of Acta Medica Colombiana is the property of Acta Medica Colombiana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

El retinoblastoma es considerada como la neoplasia ocular que se presenta con mayor frecuencia en la edad pediátrica. Su incidencia y prevalencia son muy variables alrededor del mundo y su patogenia a lo largo del tiempo se ha basado en la hipótesis de Knudson de 2 hits, siendo ampliamente aceptada. Existen múltiples formas de presentación clínica, las principales son la leucocoria y el estrabismo. Para realizar un diagnóstico se necesita realizar una valoración integral de los antecedentes y manifestaciones clínicas, apoyándose de estudios de imagen complementarios que pueden facilitar la confirmación diagnóstica. En la actualidad existen múltiples modalidades de tratamiento que se pueden ofrecer, con el fin de mejorar la sobrevida y pronóstico del paciente como lo es la cirugía, la radioterapia y la quimioterapia. Por lo que la finalidad de este artículo de revisión bibliográfica es dar una visión de los aspectos más relevantes a la hora de enfrentarse a la valoración de un paciente con esta neoplasia.

A clonagem é um processo utilizado para a obtenção de organismos geneticamente idênticos, levantando-se diversos questionamentos acerca dos benefícios e malefícios de seu emprego. A presente pesquisa foi desenvolvida como o objetivo de investigar a visão que concludentes em Ciências Biológicas apresentam sobre os diferentes aspectos que envolvem a clonagem. Foi desenvolvida uma pesquisa do tipo qualitativa com 20 estudantes dos dois últimos semestres do curso de Licenciatura em Ciências Biológicas da Universidade Estadual do Ceará / Faculdade de Educação, Ciências e Letras de Iguatu, realizando-se a categorização e análise das falas apresentadas. Os resultados evidenciam que os estudantes de Ciências Biológicas apresentam conhecimentos diversos sobre o tema clonagem, contando, alguns, com um posicionamento a favor e outros contra o emprego dessa técnica. Contudo, é importante que tal assunto seja abordado de forma mais abrangente no contexto das Ciências Biológicas, pois, por ser um tema polêmico e constantemente em atualização, faz-se necessário que os alunos discutam de forma mais aprofundada suas diferentes vertentes.

En este estudio se contempla a la cartografía temática a detalle (escala 1: 5 000), de geomorfología y suelos, como insumos de primera mano para el desarrollo y ordenamiento del territorio de la ciudad de Otavalo, Ecuador. La geomorfología del área en estudio fue fotointerpretada en tres dimensiones mediante el uso de las herramientas de un sistema de información geográfica, además, se calificó variables físicas de suelos en cada unidad geomorfológica o geoforma. Los resultados indican que en las 8 116,92 ha de la ciudad existen geoformas de siete tipos de orígenes: volcánico, gravedad y movimientos en masa, fluvio-lacustre, deposicional, erosión fluvial, poligénicas y tecnogénesis. En los suelos, la textura franco arenosa fue la dominante, con suelos bien drenados y sin presencia de nivel freático. En conclusión, la fotointerpretación o delimitación geomorfológica a escala 1: 5 000, además de ofrecer información morfológica y morfométrica de las formas de la tierra, permitió zonificar variables de suelos, que, en conjunto, es información indispensable para la gestión y aprovechamiento del territorio por parte de los tomadores decisiones y se convierte en información básica para el desarrollo de otro tipo de estudios como amenazas a deslizamientos, inundaciones o capacidad de uso de las tierras.

Parkinson's disease (PD) accounts for a significant burden on modern society, with an increasingly rapid growth in cases. Variants of several genes have been linked to the risk of developing the disease (e.g., the GBA gene). Other genes have been associated with autosomal dominant (e.g., SNCA, LRRK2, VPS35) and autosomal recessive PD (e.g., PRKN, PINK1, DJ-1). Such genes as 13A2, FBXO7, PLA2G6, SYNJ1, and DNAJC6 are associated with recessive forms displaying early onset, greater severity, and atypical characteristics. The genetic study of PD has clinical implications, shedding light on the underlying molecular mechanisms and potential therapeutic targets. This article presents a brief review of the molecular and genetic mechanisms and the phenotype–genotype relationship of GBA and other genes associated with autosomal dominant monogenic PD. Resumen: The prevalence of Parkinson disease (PD) has increased, representing a significant burden for modern society. Pathogenic variants in diverse genes have been related to the risk of PD (e.g., GBA). Specific pathogenic variants in several genes are causative of autosomal dominant PD (i.e., SNCA, LRRK2, VPS35) or autosomal recessive PD (i.e., PRKN, PINK1, DJ-1). Besides, genes like ATP13A2, FBXO7, PLA2G6, SYNJ1, and DNAJC6, are related to early-onset recessive parkinsonism, usually with a more severe progression and atypical features. PD genetics help in the understanding of the underlying molecular mechanism and the identification of potential therapeutic targets.This article presents a brief overview of molecular mechanisms and genotypephenotype relation of autosomal-dominant and GBA-related PD.

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication.

Conservation translocations have become an increasingly popular method to restore or secure vulnerable populations. However, translocations greatly vary in success. The use of population viability analysis (PVA) may increase the likelihood of meeting translocation goals. However, the quality of PVAs to inform translocations is dependent on the availability of ecological data and clear translocation objectives to guide them. Here, we used PVAs to inform the planned conservation translocation of the Western Grasswren (Amytornis textilis textilis) from mainland Shark Bay onto Dirk Hartog Island, Western Australia. A range of translocation scenarios were modelled and scored against success criteria as determined by translocation objectives. Simulations of 20-yr outcomes found that a minimum founder population of 112 individuals meet all success criteria. PVA supported sourcing individuals from 2 subpopulations to maximize genetic diversity. No impact to source populations was detected for the proposed harvest quantities despite conservative estimates of initial source population sizes. Here we demonstrate that creating clear, measurable objectives alongside a PVA lessens ambiguity about which translocation scenarios could be viable. In doing so, we have identified the minimum translocation sizes needed to maintain genetic diversity and population growth, thus increasing the likelihood of translocation success without impacting the source population. [ABSTRACT FROM AUTHOR]

Atherosclerosis constitutes the leading cause of death worldwide, surpassing violence. Given the physiopathological complexity it presents, it is important to recognize the genetic and atherogenic alterations associated with its development biology, which is useful for the prevention and control of obstructive vascular disease. The genetic inheritance pattern and the availability of candidate genes, such as PCSK9, APOB, APOA5, APOC3, ApoE, ABCA1, LPA, involved in the synthesis and metabolism of lipoproteins, show the possibility of establishing biomarkers related to alterations in plasma levels, demonstrating their risk association in different populations, which allows the identification of potential therapeutic targets. [ABSTRACT FROM AUTHOR]

The “Perpetuity Monument” ossuary located in the city of Paysandú, Uruguay, received during its history the deceased of both the general population and combatants of the war event known as the “Defense of Paysandú” (1864). This place functioned as a public cemetery between 1851 and 1881, and the ossuary was built in 1854. In order to contribute to historical, cultural and patrimonial knowledge, this project aimed at characterizing the remains of the ossuary, and to establish a possible relationship between the collective imagination that suggests that the remains of the combatants were deposited there, and the results obtained. A total of 13 skulls and associated remains were recovered and studied through bioanthropological methods, establishing gender, age and ancestry, and observing possible indicators of violence. Additionally, in order to expand the information on ancestry, mitochondrial DNA was extracted and analyzed from six skulls. The final sample was made up of 13 adult individuals: 9 male, 3 female, and 1 of undetermined gender, and typical characteristics of crossbred population. In relation to possible indicators of violence, it was observed that indicators are present in 5 individuals in the sample. The results are consistent with what was expected: high percentage of male individuals with signs of violence, probably associated with the defense of Paysandú. [ABSTRACT FROM AUTHOR]

Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient’s clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder. [ABSTRACT FROM AUTHOR]

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Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Resumo Menina de seis anos com cardiomiopatia restritiva e hipertrabeculação na qual, devido ao início precoce da doença, foi realizado sequenciamento completo do exoma, revelando a presença de uma nova variante heterozigótica missense no gene FLNC. A mesma variante genética também foi identificada em seu pai, que, já adulto, apresentava resultados de imagem normais e não apresentava sintomas. Esta variante não foi relatada em bancos de dados populacionais ou na literatura médica atual e é classificada como provavelmente patogênica.

La psiquiatría está beneficiándose de los avances que se generan en la biología molecular de manera que la integración de la expresión genética con el desarrollo del cerebro y las manifestaciones clínicas de la conducta es una posibilidad científica real. El estudio de la proteómica permitirá conocer las funciones de las proteínas en el procesamiento informático que ocurre a nivel sináptico. La identificación de genes que confieren susceptibilidad a las enfermedades psiquiátricas expandirá el conocimiento de las interacciones gen-ambiente no sólo a la fisiopatología sino también a las intervenciones terapéuticas más comprehensivas. El reconocimiento de las cascadas de transducción de señales intraneuronales es un avance significativo en el campo de la psicofarmacología ofreciendo opciones de tratamiento más selectivas y rápidas. El sistema serotoninérgico desempeña papeles fundamentales en la complejidad molecular del sistema nervioso y se constituye en un buen ejemplo de los desarrollos biológicos en psiquiatría.

The genes associated with autosomal recessive Parkinson's disease (PD) include the PRKN, PINK1, and DJ-1 genes. Homozygous and compound heterozygous carriers of pathogenic variants of these genes tend to display typical characteristics of PD at early ages.On the other hand, the ATP13A2, FBXO7, PLA2G6, SYNJ1, and DNAJC6 genes are associated with early-onset recessive forms that frequently present with pyramidal signs, ataxia, and oculomotor alterations, with early appearance of levodopa-induced motor fluctuations and dyskinesia. Such non-motor symptoms as depression, psychiatric disorders, hallucinations, and epilepsy are also more frequent in this group.Among multiple molecular mechanisms involved in these cases, key examples are the dysfunction of mitochondrial and lysosomal processes.This article presents a brief review intended to inform clinicians about the basic molecular mechanisms and phenotype–genotype relationship of these monogenic forms of PD. Resumen: Los genes asociados a enfermedad de Parkinson (EP) de herencia mendeliana autosómica recesiva incluyen PRKN, PINK1 y DJ-1. Los individuos portadores homocigotos o heterocigotos compuestos de variantes patogénicas en estos genes tienden a manifestar características típicas de la enfermedad de EP a edad temprana.Por otro lado, los genes ATP13A2, FBXO7, PLA2G6, SYNJ1, y DNAJC6, se asocian a formas recesivas de manifestación precoz, presentan con frecuencia signos piramidales, ataxia y alteraciones oculomotoras, y desarrollan tempranamente, fluctuaciones motoras y disquinesias inducidas por levodopa. Alteraciones no motoras como depresión, alteraciones psiquiátricas, alucinaciones y epilepsia son también más frecuentes en este grupo.Entre los múltiples aspectos moleculares comprometidos en estos casos, destacan la disfunción de procesos mitocondriales y lisosomales.En este artículo presentamos una breve revisión orientada al clínico sobre los aspectos moleculares básicos y relación fenotipo-genotipo de estas formas monogénicas de la EP.

En este trabajo nos proponemos analizar los efectos que tienen en la genética y la microbiología la aplicación de las leyes de propiedad intelectual, en su forma de derechos de patentes. A través del estudio de algunos episodios de la historia reciente de estas áreas de la biología, argumentamos por qué nos parece errónea, desde el punto de vista jurídico y filosófico, la patentabilidad de los genes y genomas que provienen totalmente de la naturaleza. Mostraremos cómo esta práctica legal acarrea una gran cantidad de valores no-epistémicos y concepciones ético-políticas que afectan de lleno a las investigaciones biológicas que forman parte del negocio biotecnológico y generan un desmesurado choque de cosmovisiones con culturas ajenas al sistema liberal-capitalista.

Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3–R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort.

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Chronic kidney disease in children may be caused by a group of genetic abnormalities of the kidney, urinary tract and hereditary nephropathies. Objective: To report the frequency of mutations in children with steroid-resistant nephrotic syndrome (SRNS). Methods: A multicentric case series among children with SRNS identified through direct sequencing of NPHS1, NPHS2, NPHP1 and WT1 genes. Results: 33 children were enrolled; 45.5% were females; mean age was 13±7 years; 78.8% were mestizo: 24.2% consanguineous; 60.6% were receiving dialysis: 72.7% had SRNS and 8/24 (33.3%) of them presented at least one mutation to WT1, NPHS1, NPHP1 and NPHS2 genes. Corresponding values for these mutations were 37.5% (3/8), 25% (2/8), 25% (2/8) and 12.5% (1/8), respectively. Conclusions: 33% of pediatric patients with SRNS presented gene mutations, the most frequent of these mutations was WT1. [ABSTRACT FROM AUTHOR]

Neuroendocrine cancer, often known as a neuroendocrine tumor (NET) or neuroendocrine neoplasm, originates from the specialized cells of the neuroendocrine system. These cells have characteristics that are indicative of both endocrine cells and nerve cells. Neuroendocrine tumors mostly arise inside the gastrointestinal tract, with the large intestine accounting for 20% of cases, followed by the small intestine (19%) and the appendix (4%). In order to provide a comprehensive literature review of neuroendocrine tumors that start from the small bowel, the used methodology included performing a thorough investigation of the primary attributes of NETs by using renowned academic databases, such as PubMed, Scopus and Academic Oxford Journals. The findings were classified into four distinct groups: a) genetics, epidemiology and pathology; b) clinical aspects; c) paraclinical aspects; d) treatment and prognosis. Although there is a possibility of encountering both local and systemic complications, nevertheless, it is important to note that neuroendocrine tumors are associated with rather positive survival rates in the long run (five-year and ten-year survival, respectively). [ABSTRACT FROM AUTHOR]

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La posibilidad de la mejora genética humana exige una respuesta institucional y, probablemente, la creación de nuevas instituciones. Además, la gobernanza de las tecnologías de mejora genética debe tener un alcance mundial. En este artículo analizo el debate sobre la gobernanza global de la mejora genética humana. Comienzo ofreciendo una justificación filosófica de la necesidad de adoptar un marco global para la gobernanza de las tecnologías que facilitarían la mejora de los rasgos genéticos no patológicos. A continuación, resumo las principales propuestas concretas que han surgido recientemente para gobernar la edición genética a escala planetaria. Por último, expongo algunos impedimentos que limitan el ímpetu en la gobernanza global de la mejora genética.

Este estudo foi composto por dois experimentos conduzidos para avaliar os efeitos de dietas com baixo e alto teor de proteína bruta suplementadas até o quarto aminoácido essencial e dois cruzamentos comerciais sobre o desempenho zootécnico, concentração de ureia plasmática (CUP), viabilidade econômica, digestibilidade aparente de nutrientes, e balanço de nitrogênio em leitões iniciantes. No Exp. I, um total de 128 leitões (14,02 ± 1,96 kg de peso corporal inicial e 48 dias de idade) foram distribuídos baseado no peso corporal inicial em um delineamento de blocos casualizados com arranjo fatorial 2 × 2. Foram avaliados dois cruzamentos comerciais (DB e PIC) e duas dietas de proteína bruta (baixa proteína bruta, BPB, e alta proteína bruta, APB). Foram utilizados quatro tratamentos, oito repetições e quatro leitões por unidade experimental. Exp. II foi conduzido utilizando 24 leitões machos inteiros (20,00 ± 1,41 kg de peso corporal inicial) alojados em gaiolas metabólicas por 12 dias e distribuídos no mesmo desenho experimental do Expt. I (seis repetições). Os resultados do Exp. I sugerem que os leitões alimentados com APB apresentaram melhor desempenho zootécnico. Foi observado um aumento de 25,2% na CUP em leitões alimentados com APB. Houve aumento de 18,2% no índice de eficiência econômica quando os leitões foram alimentados com APB, e também foi observada redução no custo por kg de ganho de peso corporal. No Exp. II, os leitões alimentados com APB apresentaram maiores coeficientes de digestibilidade aparente dos nutrientes, proteína e energia digestíveis, consumo e absorção de N. Não houve efeito dos cruzamentos comerciais sobre as variáveis de desempenho e metabolismo. Conclui-se que as dietas APB, independente da genética, promoveram melhorias no desempenho e no índice de viabilidade econômica, mas aumentaram a CUP nos leitões. Além disso, as dietas APB influenciaram positivamente a digestibilidade aparente dos nutrientes e a ingestão e absorção de N.

El osario del “Monumento a Perpetuidad”, ubicado en la ciudad de Paysandú, Uruguay, recibió durante su historia fallecidos tanto de población general, como de combatientes del evento bélico conocido como la “Defensa de Paysandú” (1864). Este lugar funcionó como cementerio público entre 1851 y 1881, habiéndose construido el osario en 1854. Con el objetivo de aportar al conocimiento histórico, cultural y patrimonial, se busca caracterizar los restos del osario y establecer una posible relación entre el imaginario colectivo, que plantea que los restos de los combatientes fueron depositados allí, y los resultados obtenidos. Se recuperaron 13 cráneos y restos asociados, que se estudiaron a través de métodos bioantropológicos, estableciéndose sexo, edad y ancestralidad, y observándose posibles indicadores de violencia. Adicionalmente, para ampliar la información sobre ancestralidad, se extrajo y analizó ADN mitocondrial de seis cráneos. La muestra final se compuso de 13 individuos adultos, 9 masculinos, 3 femeninos y uno de sexo indeterminado, y características típicas de una población mestizada. En relación con posibles indicadores de violencia, se observa que están presentes en cinco individuos de la muestra. Los resultados son coincidentes con lo esperado: alto porcentaje de individuos masculinos con signos de violencia, probablemente asociados a la defensa de Paysandú.

Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials. Resumen: Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH (APEH) en España en 2019. Pacientes y métodos: Estudio transversal, multicéntrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde Marzo de 2018 a Diciembre de 2019 en toda España. Resultados: Se obtuvo información de 1.933 pacientes procedentes de 11 Comunidades Autónomas, de 47 neurólogos o genetistas. Edad media: 53,64 años ± 20,51 desviación estándar (DE); 938 varones (48,5%), 995 mujeres (51,1%). En 920 pacientes (47,6%) no se conoce el defecto genético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más frecuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEH recesiva más frecuente es la SPG7. Conclusiones: La prevalencia estimada de APEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clínicos.

Para evaluar el inicio de producción y peso del huevo de las gallinas venezolanas GDB (n = 30), Maracay (n= 62), GDB/Maracay (n = 60) y Maracay/GDB (n = 36), se condujo un experimento en la finca La Fortaleza, sector La Sirena, El Palmar, estado Bolívar, durante 12 semanas. Las aves estaban en corrales, con densidad de 8 aves/m2. Se suministró alimento comercial (16 % Pc; 3,9 % Ca). Se realizaron análisis de varianza, incluyendo los efectos: grupo racial, semana y la interacción. Las gallinas iniciaron la postura entre las 20 y 21 semanas de edad. El pico de producción superior (P

El presente artículo pretende ofrecer algunos apuntes para emprender la construcción de un régimen jurídico de protección de la información genética con base en el derecho a la intimidad genética. En este sentido, se empezará con la definición de información genética entendida como dato personal sensible. Posteriormente, se presentará a la información genética como objeto de protección del derecho a la intimidad genética, para lo cual se intentará conceptualizar a ésta desde de la doctrina y la jurisprudencia constitucional peruana y se desarrollarán los límites de su contenido (disponibilidad) a partir de la revisión de los principios contenidos en la ley Nº29733 y el Decreto Legislativo N°1348, con la finalidad de demostrar su aplicabilidad a la información genética.

Se describen dos nuevas especies, Squalius gaditanus sp. nov. y Squalius tartessicus sp. nov. sobre la base de caracteres morfológicos y genéticos. Squalius gaditanus está restringida a las cuencas de Barbate, Jara y Miel en la provincia de Cádiz (sur de España). Squalius gaditanus sp. nov. se puede distinguir de otras especies del género Squalius, de la Península Ibérica, a través de una combinación de caracteres morfométricos, merísticos y genéticos: 36-‍40 (x̄=38) escamas canaliculadas en la línea lateral; 6-‍7 (x̄=6.7) escamas por encima de la línea lateral; 2-‍3 (x̄=2,8) escamas debajo de la línea lateral; vértebras 37-‍39 (x̄=38); en los ejemplares adultos el segundo infraorbitario es más estrecho que el tercero; maxilar con su proceso anterior poco puntiagudo; proceso posterior del maxilar largo y delgado; la rama inferior del hueso faríngeo es corta y robusta; placa faríngea del basioccipital redondeada y dos autapomorfias en el gen mitocondrial citocromo b. Squalius tartessicus sp. nov. vive en las cuencas de los ríos Almargem, Gilao, Odiel, Guadiana, Guadalquivir, Guadalete, Guadalhorce, Vélez, Guadalfeo y Segura en el sur de la Península Ibérica. Squalius tartessicus sp. nov. se puede distinguir de otras especies del género Squalius, de la Península Ibérica,a través de una combinación de caracteres morfométricos, merísticos y genéticos; 37-‍41 (x̄=38.8), escamas canaliculadas en la línea lateral; 6-‍7 (x̄=7) escamas por encima de la línea lateral; 2-‍3 (x̄=2.9) escamas por debajo de la línea lateral; 37-‍39 (x̄=38) número de vértebras; en los adultos infraorbitarios excepcionalmente anchos; maxilar con la apófisis anterior puntiaguda; apófisis posterior del maxilar larga y delgada; la apófisis inferior del hueso faríngeo es corta y robusta; placa faríngea del basioccipital de forma triangular; lámina posterior de cleitro extendida.

México ocupa el 10mo lugar en exportación de miel. A nivel nacional Tabasco se encuentra rezagado en el 25vo lugar como productor. En México, la apicultura se realiza principalmente con abejas africanizadas, el comportamiento altamente defensivo y la varroosis, son los principales factores que frenan su desarrollo. El objetivo fue seleccionar abejas progenitoras en diferentes agroecosistemas del estado. Se evaluaron 165 colonias, en apiarios comerciales localizados en Comalcalco, Cárdenas y Paraíso Tabasco. Se estableció un índice de selección (10 puntos) mediante ponderaciones de: Producción de miel (PM=5), mansedumbre (M=2), comportamiento higiénico (CH=1.5), acicalamiento (AC=1.5), infestación de varroa en abejas adultas (IVAA=0.5) e infestación de varroa en cría operculada (IVCO=0.5). Con los datos transformados, se realizaron análisis de varianza, pruebas de medias y correlaciones de Pearson. Se encontró baja IVAA e IVCO (4.73±2.91% y 4.12±2.46%). Buen comportamiento de AC (24.53±11.67%), nivel medio de CH (89.82±8.20%), nivel medio de M (3.38±0.73) y nivel medio de PM=36.08±5.15 kg Colonia-1. Se encontró baja correlación entre M y PM (r=0.292, p=0.000), sugiriendo que abejas con mayor mansedumbre, tienden a ser más productivas. Muy baja correlación de PM con IVAA (r=-0.120, p=0.126) y con IVCO (r=-0.145, p=0.063), indicando que ambos parámetros impactan negativamente la producción. Muy bajas correlaciones positivas con CH (r=0.130, p=0.097) y AC (r =0.091, p=0.242), indicando que buen nivel de CH y AC impactan favorablemente la producción. Se seleccionaron 19 colonias con mayores puntos ponderados, con las cuales se reproducirán abejas reinas y zánganos con fines de mejoramiento genético en los diferentes agroecosistemas

Resumo Os testes genéticos para cardiomiopatia dilatada (CMD) apresentam uma positividade de até 40%, mas há uma grande heterogeneidade genética e outros desafios decorrentes de expressividade variável e penetrância incompleta. O heredograma é fundamental para diferenciar os casos de CMD esporádica e familiar, por meio da avaliação do histórico familiar. A CMD familiar apresenta um rendimento maior nos testes genéticos, mas a CMD esporádica não exclui a possibilidade de causa genética. Alguns genes têm fenótipos específicos, sendo o gene da Lamina ( LMNA ) o mais fortemente associado a um fenótipo de arritmias malignas e quadros de insuficiência cardíaca (IC) avançada. A presença de uma variante genética causal também pode ajudar na avaliação prognóstica, identificando quadros mais graves e com menores taxas de remodelamento reverso em comparação com indivíduos com genótipo negativo. As diretrizes atuais recomendam a avaliação e aconselhamento genético em indivíduos com CMD, além do rastreamento em cascata nos familiares de primeiro grau nos casos em que há uma ou mais variantes identificadas, sendo uma oportunidade para o diagnóstico e tratamento precoces. Familiares com genótipo positivo e fenótipo negativo são candidatos à avaliação seriada, com periodicidade que varia conforme a idade. O genótipo também auxilia na indicação individualizada de cardiodesfibrilador implantável e em recomendações quanto à atividade física e planejamento familiar. Estudos em curso esclarecem progressivamente os detalhes das relações genótipo/fenótipo de um grande número de variantes e fazem com que a genética molecular esteja cada vez mais presente na prática clínica.