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Submitted by Sandro Camargo (sandro.camargo@unipampa.edu.br) on 2015-03-08T19:49:29Z No. of bitstreams: 1 127110023.pdf: 3874262 bytes, checksum: 443a132aba188e5f75a8c5e9224fdeab (MD5) / Made available in DSpace on 2015-03-08T19:49:29Z (GMT). No. of bitstreams: 1 127110023.pdf: 3874262 bytes, checksum: 443a132aba188e5f75a8c5e9224fdeab (MD5) Previous issue date: 2014-09-26 / Este estudo objetivou descrever os aspectos epidemiológicos e clinicopatológicos da seneciose na mesorregião Sudoeste Rio-Grandense, enfatizando a importância da doença para a pecuária da região e da biópsia hepática para o diagnóstico conclusivo. Foram realizados questionários em 16 propriedades rurais visitadas em municípios da região que apresentaram casos suspeitos da intoxicação entre agosto de 2011 e março de 2014, através dos quais foi possível observar que a doença é possivelmente a que mais causa prejuízos econômicos à bovinocultura. De um total de 88 bovinos que apresentaram baixo desenvolvimento corporal, de nove propriedades distintas, 69 animais (aproximadamente 80%) foram positivos para seneciose crônica, e apresentaram lesões características da intoxicação como fibrose periportal (83% dos casos), hepatomegalocitose (81% dos casos) e proliferação de ductos biliares (73% dos casos), e essas alterações foram classificadas como discreta, leve, moderada ou acentuada. Foram estudados ainda 21 casos positivos de seneciose crônica, dos quais quatro vacas apresentaram alterações ovarianas caracterizadas microscopicamente por acentuada megalocitose e pseudoinclusão em células luteínicas grandes (CLG). Esse estudo confirmou a existência de bovinos intoxicados nos rebanhos, além de outros com potencial para desenvolver a forma clínica mais grave da doença. Os resultados dessas avaliações foram fundamentais para orientar os proprietários e técnicos quanto às principais características da doença e às formas de controle a serem adotadas. O presente trabalho permitiu concluir que a seneciose é a principal causa de morte de bovinos adultos na região, bem como estabelecer a real situação da doença nos rebanhos, além de descrever pela primeira vez as lesões gonadais em vacas com seneciose crônica. / This work aimed to describe the epidemiological and clinicopathological findings of the seneciosis in the Southwest Mesoregion of Rio Grande do Sul, state of Brazil, emphazing the importance of disease to livestock in the region and the importance of the liver biopsy for definitive diagnosis Assessments were made through questionnaires in 16 rural properties in the region who had suspected cases of poisoning from August 2011 to March 2014. These assessments revealed that the disease is an important cause of mortality in adult cattle in the region and possibly the one that most causes economic losses to the raising cattle. From a total of 88 cattle that lower in the body development, from nine distinct properties, 69 animals (about 80%) were positive for chronic seneciosis after showing characteristic signs of the intoxication, as periportal fibrosis in 83% of cases, megalocytosis in 81% of cases and bile duct proliferation in 73% of cases, and these changes were classified as mild these changes were classified from mild to accentuated. Twenty-one positive cases of chronic seneciosis were also studied. These, four cows showed ovarian changes characterized microscopically by with marked megalocytosis and nuclear pseudo-inclusions in large luteal cells (LLC). This study confirmed the existence of cattle poisoned in herds, and others with potential to develop the most serious form of the disease. The results of these assessments were fundamental to guide owners and technicians about the main characteristics of the disease and forms of control to be adopted. The study showed that chronic seneciosis is the major cause of death in adult cattle in the region, as well as establish the real situation of the disease in herds, and describe the first time the gonadal lesions in cows with chronic seneciosis.

Themitochondrialmalate aspartate shuttle system(MAS)maintains the cytosolicNAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects in four MAS-proteins (encoded by MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic phenotype, as well as citrin deficiency (SLC25A13) with a complex hepatopathic-neuropsychiatric phenotype. Ketogenic diets (KD) are high-fat/low-carbohydrate diets, which decrease glycolysis thus bypassing the mentioned defects. The same holds for mitochondrial pyruvate carrier (MPC) 1 deficiency, which also presents neurological deficits. We here describe 40 (18 previously unreported) subjects with MAS-/MPC1-defects (32 neurological phenotypes, eight citrin deficiency), describe and discuss their phenotypes and genotypes (presenting 12 novel variants), and the efficacy of KD. Of 13 MAS/MPC1- individuals with a neurological phenotype treated with KD, 11 experienced benefits—mainly a striking effect against seizures. Two individuals with citrin deficiency deceased before the correct diagnosis was established, presumably due to high-carbohydrate treatment. Six citrin-deficient individuals received a carbohydrate-restricted/fat-enriched diet and showed normalisation of laboratory values/hepatopathy as well as age-adequate thriving. We conclude that patients with MAS-/MPC1- defects are amenable to dietary intervention and that early (genetic) diagnosis is key for initiation of proper treatment and can even be lifesaving.