145 resultados para hereditary spastic paraplegia


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The genetic inheritance, beyond determining the regular features of all the live beings, can also be the cause of diseases, called as hereditary or genetic diseases. In the case of livestock, especially cattle, little genetic variation, by the use of the same sires for a long time, can facilitate the emergence of problems. In this study, we reviewed eight of the most important genetic diseases in cattle herds around the world, whose mutation has already been characterized. Some of these diseases are reported in Brazil, but there are few studies and articles on this subject, due to the difficulty of a definitive diagnosis, which often is only possible with the use of molecular biology techniques. The knowledge of the disorders and the correct diagnosis are essential to initiate an action plan aimed at eradicating them

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The policystycal kidney disease that's a disease congenital autossomal dominant , no connected with the sex , what affect equally manly and females, especially the from race Persian and intersections with animals of that race. The polycystical kidney disease is broadcast the all issue from the individuals affected due at your character hereditary dominant. Yours signals clinical is linked together at the classic signals of Insufficiency Renal Account, such as: nefromegaly, poliury, anorexic, hematury and anemia , because in as much as the animals affected they tend developing this pathology among others secondary systemic problems . The means diagnostic, to ide ntify this pathology as varied, being used principally the of image, permitting a precociou diagnostic. Your treatment consists in master the symptoms caused by kidney insufficiencies Account and furnish, comfort and quality of life for the animals bearers, because it doesn’t have cur. Know the etiology, signals clinical, mediums diagnostic and the treatment is essential tools about to the screening of that disease and also to the future from race Persian and yours intersections obtained across her. The main objective this study was realize a bibliographic review about polycystical kidney disease linking a traditional forms of the diagnostic, treatment and control with new studies recently published about affected felines populations

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Osteoarticular diseases are very frequent in small animals, especially dogs. Osteoarthritis is the most common degenerative arthropathy in cats and dogs. It is one of the most important skeletal disease in small animals and it is divided into two broad classes: secondary and genetics. The secondary is originated from situations that can cause joint instability like as trauma, ligament problems and obesity among others. The gene for osteoarthritis comes from hereditary problems such as hip dysplasia, elbow dysplasia and other diseases that can cause articular instability. The hereditary osteoarticular diseases are important only because they can result in the osteoarthritis. It is important to prevent the joint instability and consequently the clinical signs that affect the quality of life of the animals. The most common clinical signs are intermittent claudication, a decrease in performance, reluctance to jump and climb ladders among others. To prevent the clinical signs or mitigate them, the treatments need to be focused on pain control and especially restoration of the affected joint. The treatments most used are the medical and surgery. Anti-inflammatory and analgesics are used in large scale for pain control and to inhibit inflammatory mediators. Furthermore, medical treatment includes weight reduction, physiotherapy and proper nutrition along with anti-inflammatory and analgesics. Surgical treatments are indicated if there is an inadequate response to medical treatment. Physiotherapy is often used in conjunction with other treatments. Besides the reduction of weight is essential and obesity is unacceptable. Cats also suffer from osteoarthritis, but the diagnosis is rarer than in dogs. Usually the cat’s owners relate the reluctance to jump and drop in performance with senility, and when the disease is diagnosed is already in... (Complete abstract click electronic access below)

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Beekeeping is recognized as promoter of assumptions and dimensions of sustainable development, supported by the triple bottle line – economic viability, social relevance and environmental prudence. Historically, it is strongly related with the central state of São Paulo. This work has as main objective to identify the profile of beekeeping in the this region, based on four municipalities (Araraquara, Descalvado, Rio Claro and São Carlos) in order to determine the main difficulties faced by beekeepersfor the sustainable development, pointing alternative interventions able to soften the effects of difficulties. It was used two different and complementary methodological strategies. The first one was a search with the databases (SEADE and IBGE) to obtain secondary data and quantitative regarding beekeeping in the region. The second one, it wasthrough field research with the beekeepers. The survey found that beekeeping in the region, presents an essentially familial and hereditary. Was also noticed the damage caused in the production, by limiting access to the region’s bee pastures and use of pesticides. In processing, it was found the extremely precarious conditions. At the institutional level, it was found the relative weakness of the beekeepers cooperatives, and the lack of support from local governments to consolidate activity.

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Amelogenesis imperfecta is a hereditary condition that can alter the thickness, color, and shape of tooth enamel. Recent adhesive materials and techniques have provided less invasive treatment options. This case report presents the treatment of a patient whose anterior teeth had color alterations, white spots, pits, and shape defects. Using a more conservative technique, the mandibular and maxillary anterior teeth were restored using veneer direct composite restorations. After 6 years, the restorations demonstrated no deterioration, and no pathology was seen in association with the rehabilitation.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Pós-graduação em Medicina Veterinária - FCAV

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Polycystic kidney disease (PKD) is a hereditary autosomal dominant disorder that mainly affects Persian cats; it is an important cause of chronic kidney disease in this species. Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats, and there is evidence of a genetic origin in some breeds. Although neither of these disorders is rare in cats, according to our literature review, this is the first report of the concomitant occurrence of PKD and HCM in Persian cats in Brazil.

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Cell therapy has frequently been reported as a possible treatment for spinal trauma in humans and animals; however, without pharmacologically curative action on damage from the primary lesion. In this study, we evaluated the effect of administering human adipose-derived stem cells (hADSC) in rats after spinal cord injury. The hADSC were used between the third and fifth passages and a proportion of cells were transduced for screening in vivo after transplantation. Spinal cord injury was induced with a Fogarty catheter no. 3 inserted into the epidural space with a cuff located at T8 and filled with 80 mu L saline for 5 min. The control group A (n = 12) received culture medium (50 mu L) and group B (n = 12) received hADSC (1.2 x 10(6)) at 7 and 14 days post-injury, in the tail vein. Emptying of the bladder by massage was performed daily for 3 months. Evaluation of functional motor activity was performed daily until 3 months post-injury using the Basso-Beattie-Bresnahan scale. Subsequently, the animals were euthanized and histological analysis of the urinary bladder and spinal cord was performed. Bioluminescence analysis revealed hADSC at the application site and lungs. There was improvement of urinary bladder function in 83.3% animals in group B and 16.66% animals in group A. The analysis of functional motor activity and histology of the spinal cord and urinary bladder demonstrated no significant difference between groups A and B. The results indicate that transplanted hADSC improved urinary function via a telecrine mechanism, namely action at a distance.

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The exercise-induced collapse (EIC) is a hereditary disease characterized by muscle weakness, impaired locomotion and collapse after intense exercise. This autossomic recessive disorder affects mainly Labrador Retriever presenting the mutation c.767G>T in the dynamin 1 (DNM1) gene. The objective of this study is to report the first case of exercise-induced collapse in Labrador Retriever in Brazil. The molecular test detected the specific genetic mutation and confirmed the clinical diagnosis in a Labrador Retriever with clinical history of weakness and collapse after exercise. It is important to include this disease as part of the differential diagnosis of neuromuscular diseases in Labrador Retriever and use the molecular test to guide matings.

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Multiple primary tumors (MPT) are a major cause of mortality and morbidity among patients that have survived after the treatment of a first cancer. It has been proposed that after the first primary tumor, high risk of a subsequent tumor could be associated with radiotherapy used as treatment for the first cancer. Other potential risk factors include unhealthy lifestyle, genetic predisposition, aging, environmental determinants or an interaction between these factors. However, an association between the presence of MPT and family history of cancer in cases without clinical and molecular evidence of a known hereditary cancer syndrome is rarely described. Genomic DNA from 12 patients with at least two primary tumors and without mutations on TP53 was evaluated by CytoScan HD Array (Affymetrix). Chromosome Analysis Suite (ChAS) software v.2.0.1 was used considering at least 50 markers for gains; 25 for losses and a minimum of 5Mb for cnLOHs. Data from 1038 phenotypically healthy individuals (Affymetrix) and from Database of Genomic Variants were used as reference. Only alterations found in <1% (rare) or never described (new rare) in the reference population were considered. All cases, except one, presented a family history of cancer. Five cases developed MTP after radiotherapy and only one was located in the same treated area. It was detected 67 rare and 15 new rare genomic alterations encompassing 5.906 genes: 17 losses, 29 gains, and 36 cnLOH. X chromosome presented the higher number of alterations. Two patients with breast cancer presented a large deletion/cnLOH on 7q21. Enrichment analysis revealed 1275 genes associated with breast cancer (p= 0.001), which was diagnosed in 6 patients and their family members (all negative for BRCA1/2 or TP53 mutations). cnLOHs accounted for 44% of all the alterations. A significant proportion of cases (11/12) presented family history of cancer and the patients were not submitted to radiotherapy (7/12). We demonstrated the presence of rare genomic alterations in patients with MPT suggesting their involvement in the MPT development. cnLOH may arise as a new mechanism associated with the risk to develop MPT. All authors have declared no conflicts of interest.