RESUMEN
The CRISPR genome editing technology shows great application prospects in gene manipulation and infectious disease research, and is of great value for effective control and cure of infectious diseases. It has been utilized to generate specific disease models in cells, organoids and animals, which provide great convenience for research into the molecular mechanisms associated with infectious diseases. CRISPR screening technology enables high-throughput identification of risk factors. New molecular diagnostic tools based on CRISPR offer a more sensitive and faster method for detecting pathogens. The use of CRISPR tools to introduce resistance genes or to specifically destroy risk genes and virus genomes is intended to help prevent or treat infectious diseases. This review discusses the application of CRISPR genome editing technologies in the construction of disease models, screening of risk factors, pathogen diagnosis, and prevention and treatment of infectious diseases, thereby providing a reference for follow-up research in pathogenesis, diagnosis, prevention and treatment of infectious diseases.
Asunto(s)
Sistemas CRISPR-Cas , Enfermedades Transmisibles , Edición Génica , Edición Génica/métodos , Humanos , Animales , Enfermedades Transmisibles/diagnóstico , Enfermedades Transmisibles/terapia , Enfermedades Transmisibles/genética , Repeticiones Palindrómicas Cortas Agrupadas y Regularmente EspaciadasRESUMEN
Lumbar spinal fusion using rigid rods is a common surgical technique. However, adjacent segment disease and other adverse effects can occur. Dynamic stabilization devices preserve physiologic motion and reduce painful stress but have a high rate of construct failure and reoperation. Polyetheretherketone (PEEK) rods for semi-rigid fusions have a similar stiffness and adequate stabilization power compared with titanium rods, but with improved load sharing and reduced mechanical failure. The purpose of this paper is to review and evaluate the clinical and biomechanical performance of PEEK rods. A systematic review of clinical and biomechanical studies was conducted. A literature search using the PubMed, EMBASE, and Cochrane Library databases identified studies that met the eligibility criteria. Eight clinical studies and 15 biomechanical studies were included in this systematic review. The visual analog scale and the Oswestry disability index improved significantly in most studies, with satisfactory fusion rates. The occurrence of adjacent segment disease was low. In biomechanical studies, PEEK rods demonstrated a superior load-sharing distribution, a larger adjacent segment range of motion, and reduced stress at the rod-screw/screw-bone interfaces compared with titanium rods. The PEEK rod construct was simple to assemble and had a reliable in vivo performance compared with dynamic devices. The quality of clinical studies was low with confounding results, although results from mechanical studies were encouraging. There is no evidence strong enough to confirm better outcomes with PEEK rods than titanium rods. More studies with better protocols, a larger sample size, and a longer follow-up time are needed.
Asunto(s)
Cetonas , Vértebras Lumbares/cirugía , Polietilenglicoles , Fusión Vertebral/instrumentación , Benzofenonas , Fenómenos Biomecánicos , Tornillos Óseos , Diseño de Equipo , Estudios de Seguimiento , Humanos , Evaluación de Procesos y Resultados en Atención de Salud , Polímeros , TitanioRESUMEN
OBJECTIVE: To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease (HD) family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. METHODS: According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. RESULTS: Eight of twenty-five family members carried abnormal allele: III(10), III(12), III(14), IV(3), and V(2) carried (CAG) (48), IV(11) and IV(12) carried (CAG) (67), and IV(14) carried (CAG) (63), in contrast with the 8-25 CAG trinucleotides in the members of control group. IV(14) carried 15 more CAG trinucleotides than her father III(10). CONCLUSION: The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation (characterized by earlier age of onset and increasing severity) of the patient IV(12).
Asunto(s)
Salud de la Familia , Enfermedad de Huntington/genética , Proteínas del Tejido Nervioso/genética , Proteínas Nucleares/genética , Polimorfismo Genético , Expansión de Repetición de Trinucleótido/genética , Adulto , Niño , Femenino , Humanos , Proteína Huntingtina , Masculino , Persona de Mediana Edad , Análisis de Secuencia de ADN/métodosRESUMEN
Approximately 15%-20% of clinically recognizable pregnancies end in spontaneous abortion. About half of the spontaneous abortions in the early stage of the pregnancy are due to chromosomal abnormalities. Using GTG chromosome banding and dual-color fluorescence in situ hybridization (FISH) techniques, we determined the cytogenetic aberration in the husband of a couple with spontaneous recurrent abortions. Karyotype analysis showed 46, XX in the wife and 45, XY, -14, -21, +t(14; 21) in the husband. We studied the mechanism of formation of the abnormal chromosome with Robertsonian translocation between chromosomes 14 and 21 by FISH and flow cytometric sorting in the sperm cells. The result showed that 71% of the gametes were balanced and the remaining 29% were not. As a result, the couple was given genetic counseling.