RESUMEN
Rare diseases encompass a diverse group of genetic disorders that affect a small proportion of the population. Identifying the underlying genetic causes of these conditions presents significant challenges due to their genetic heterogeneity and complexity. Conventional short-read sequencing (SRS) techniques have been widely used in diagnosing and investigating of rare diseases, with limitations due to the nature of short-read lengths. In recent years, long read sequencing (LRS) technologies have emerged as a valuable tool in overcoming these limitations. This minireview provides a concise overview of the applications of LRS in rare disease research and diagnosis, including the identification of disease-causing tandem repeat expansions, structural variations, and comprehensive analysis of pathogenic variants with LRS.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Enfermedades Raras , Humanos , Enfermedades Raras/genética , Enfermedades Raras/diagnóstico , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/normas , Análisis de Secuencia de ADN/métodos , Análisis de Secuencia de ADN/normasRESUMEN
<p><b>OBJECTIVE</b>To compare the efficacy difference between acupotomology and operation in the treatment of lumbar disc herniation (LDH).</p><p><b>METHODS</b>One hundred and eighty-four cases were randomized into an acupotomology group (109 cases) and an operation group (75 cases). In acupotomology group, acupotomology was applied to relevant local soft tissues in LDH and the reactive points in the distribution of superior gluteal nerves, at the outlet of sciatic nerve and in the nerve innervate area of the lower extremities separately. In operation group, the small-windowed discectomy through small incision was adopted. The clinical efficacies were assessed between two groups.</p><p><b>RESULTS</b>In acupotomology group, the clinical cured rate was 82.6% (90/109) and the effective rate was 96.3% (105/109). In operation group, they were 86.7% (65/75) and 97.3% (73/75) respectively. There were no significant differences in statistics between two groups (both P > 0.05).</p><p><b>CONCLUSION</b>Acupotomology is definitely effective in the treatment of lumbar disc herniation and its efficacy is similar to that of operation.</p>