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1.
Eur J Pediatr ; 182(7): 3049-3056, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37166538

RESUMEN

Cyclin-dependent kinase-like 5 (CDKL5) is a gene encoding a serine/threonine kinase that possesses an N-terminal catalytic domain and a large C-terminal domain and is located on the short arm of the X-chromosome at position 22 (Xp22). CDKL5 regulates neuronal migration, axonal growth, dendritic morphogenesis, and synaptic development and affects synaptic function. Pathogenic variants include deletions, truncations, splice variants, and missense variants. The specificity of CDKL5 is mainly determined by the shared sequence of amino acid residues, which is the phosphorylation site of the target protein with the motif Arg-Pro-X-Ser/Thr-Ala/Pro/Gly/Ser (R-P-X-[S/T]-[A/G/P/S]). Developmental encephalopathy caused by pathogenic variants of CDKL5 has a variety of nervous system symptoms, such as epilepsy, hypotonia, growth retardation, dyskinesia, cortical visual impairment, sleep disorders, and other clinical symptoms. This review summarizes the mechanism of CDKL5-induced allogeneic lesions in the nervous system and the clinical manifestations of related encephalopathy.   Conclusion: This review clarifies CDKL5's participation in neurodevelopmental diseases as well as its crucial function in dividing cells, cultured neurons, knockout mice, and human iPSC-derived neurons. CDKL5 variants help identify clinical diagnostic biomarkers. Although a few direct substrates of CDKL5 have been identified, more must be found in order to fully comprehend the signaling pathways connected to CDKL5 in the brain and the mechanisms that underlie its activities.


Asunto(s)
Encefalopatías , Animales , Humanos , Ratones , Epilepsia , Mutación Missense , Proteínas Serina-Treonina Quinasas/genética , Proteínas Serina-Treonina Quinasas/metabolismo , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/genética , Espasmos Infantiles/metabolismo , Encefalopatías/diagnóstico , Encefalopatías/genética
2.
Front Bioeng Biotechnol ; 11: 1219054, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37441195

RESUMEN

As nanotechnology develops in the fields of mechanical engineering, electrical engineering, information and communication, and medical care, it has shown great promises. In recent years, medical nanorobots have made significant progress in terms of the selection of materials, fabrication methods, driving force sources, and clinical applications, such as nanomedicine. It involves bypassing biological tissues and delivering drugs directly to lesions and target cells using nanorobots, thus increasing concentration. It has also proved useful for monitoring disease progression, complementary diagnosis, and minimally invasive surgery. Also, we examine the development of nanomedicine and its applications in medicine, focusing on the use of nanomedicine in the treatment of various major diseases, including how they are generalized and how they are modified. The purpose of this review is to provide a summary and discussion of current research for the future development in nanomedicine.

3.
Int J Radiat Oncol Biol Phys ; 67(3): 841-6, 2007 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-17175115

RESUMEN

OBJECTIVE: To evaluate the results of combined decongestive therapy and manual lymphatic drainage in patients with breast cancer-related lymphedema. METHODS AND MATERIALS: The data from 250 patients were reviewed. The pre- and posttreatment volumetric measurements were compared, and the correlation with age, body mass index, and type of surgery, chemotherapy, and radiotherapy was determined. The Spearman correlation coefficients and Wilcoxon two-sample test were used for statistical analysis. RESULTS: Of the 250 patients, 138 were included in the final analysis. The mean age at presentation was 54.3 years. Patients were stratified on the basis of the treatment modality used for breast cancer management. Lymphedema was managed with combined decongestive therapy in 55%, manual lymphatic drainage alone in 32%, and the home program in 13%. The mean pretreatment volume of the affected and normal arms was 2929 and 2531 mL. At the end of 1 year, the posttreatment volume of the affected arm was 2741 mL. The absolute volume of the affected arm was reduced by a mean of 188 mL (p < 0.0001). The type of surgery (p = 0.0142), age (p = 0.0354), and body mass index (p < 0.0001) were related to the severity of lymphedema. CONCLUSION: Combined decongestive therapy and manual lymphatic drainage with exercises were associated with a significant reduction in the lymphedema volume.


Asunto(s)
Neoplasias de la Mama/complicaciones , Drenaje/métodos , Linfedema/terapia , Adulto , Anciano , Anciano de 80 o más Años , Índice de Masa Corporal , Femenino , Humanos , Linfedema/etiología , Linfedema/patología , Persona de Mediana Edad , Factores de Riesgo , Estadísticas no Paramétricas
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