RESUMEN
Rare diseases are characterized by a low prevalence, which often means that patients with such diseases are undiagnosed and do not have effective treatment options. Neurodevelopmental and neurological disorders make up around 40% of rare diseases and in the past decade, there has been a surge in the identification of genes linked to these conditions. This has created the need for model organisms to reveal mechanisms and to assess therapeutic methods. Different model animals have been employed, like Caenorhabditis elegans, Drosophila, zebrafish, and mice, to investigate the rare neurological diseases and to identify the causative genes. While the zebrafish has become a popular animal model in the last decade, mainly for studying brain development, understanding neural circuits, and conducting chemical screens, the mouse has been a very well-known model for decades. This review explores the strengths and limitations of using zebrafish as a vertebrate animal model for rare neurological disorders, emphasizing the features that make this animal model promising for the research on these disorders.
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Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.
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This paper describes the epidemiological characteristics of bovine brucellosis in Korea during January 2000~September 2004, which encompasses the period when the incidence of bovine brucellosis increased abruptly. Data from the National Animal Infectious Disease Data Management System were used for this study. A range of epidemiological measures was calculated including annual herd and animal incidence. During the study period, there were 1,183 outbreaks on 638 farms. In beef cattle, annual herd incidence increased from 0.2 (2000) to 11.5 (2004, to September) outbreaks per 10,000 and annual animal incidence varied between 3.4 (2000) and 105.8 (2004, to September) per 100,000, respectively. On 401 (62.9%) infected farms during this period, infection was eradicated without recurrence. Recurrence of infection was significantly higher on farms where abortion was reported (53.3%), compared to farms where it was not (30.0%). On beef cattle farms, infection was introduced most frequently through purchased cattle (46.2%). Based on the results of this study, the establishment and spread of brucellosis in the Korean beef cattle population were mainly due to incomplete or inappropriate treatment of aborted materials and the movement of infected cattle.
Asunto(s)
Animales , Bovinos , Brucelosis , Brucelosis Bovina , Enfermedades Transmisibles , Brotes de Enfermedades , Incidencia , Corea (Geográfico) , RecurrenciaRESUMEN
Hormone-dependent cancers including prostatic cancer respond to endocrine therapy in initial phase, but gradually loss responsiveness and eventually show autonomous growth despite of continuation or the treatment At present it is difficult to predict on an individual basis who will respond to hormonal therapy and for how long. If unresponsive patient could be identified. they could be treated by alternative forms of therapy (e.g., chemotherapy). Thus there is a great need to predict the quality and duration of response to endocrine manipulation. Recently androgen receptor assay and other methods to predict the responsiveness of prostatic cancer to androgen ablation therapy have been developed. We studied androgen receptor, RNA polymerase activity and chromosome analysis on the androgen-responsive Shionogi Carcinoma 115 (SC115} cells and established a pure androgen-dependent cancer cell line from this tumor.