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1
artículo
Publicado 2021
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CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.
2
artículo
Publicado 2021
Enlace
Enlace
CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.
3
artículo
Survival rates in children with cancer have increased over the years, however the consequences of the oncological treatment received have an impact on different organs and tissues, thus, holocranial radiotherapy and chemotherapy that penetrates the central nervous system can cause consequences. neurocognitive, long-term ocular complications include cataracts, glaucoma, retinopathy and severe dry eye, the use of platinum-based chemotherapy and radiotherapy is associated with hearing loss. The lungs and lung function are vulnerable to injury from oncological treatment and after hematopoietic stem cell transplantation; The use of anthracyclines constitutes the main cause of cardiomyopathy in survivors. At the gastrointestinal level, alkylating agents and anthracyclines can influence the risk of liver and gastrointestinal mucosal damage, and at the kidney level, chemotherapeutic agents such ...
4
tesis de grado
Publicado 2024
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La tolerancia al ejercicio en el ser humano nos muestra los distintos sistemas fisiológicos que se debe desarrolla dependiendo de la estabilidad hemodinámica dependiendo del entrenamiento físico con intensidad o resistencia (19). Para cuantificarla y evaluar con la prueba de caminata de seis minutos la me nos mostrara las dificultades que pueda presentar el paciente desde un problema respiratorio, cardiaco como problema que arrastra de tiempos atrás (20), relacionando con la somnolencia diurna a causa del trabajo que con lleva a problemas hemodinámicos a causa del sueño (26), La somnolencia diurna excesiva se considerada una consecuencia del sueño insuficiente y junto con el trastorno del sueño son presentados en pacientes con más sueño presentando problemas cardiovasculares (27). Realizaron un estudio controlado aleatorio de 88 casos confirmados ,que en lo posterior de síntom...
