Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1 Recently, NF1 testing has been included as a clinical criterion for NF1 diagnosis. Additionally, preconception genetic counselling in patients with NF1 focuses on a 50% risk of transmitting the familial variant as the risk of having a sporadic NF1 is considered the same as the general population. METHODS: 829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1. Genotyping and segregation analysis of NF1 familial variants was determined by microsatellite analysis and NF1 sequencing. RESULTS: The mutational analysis of NF1 in 154 families with two or more affected cases studied showed the co-occurrence of two different NF1 germline pathogenic variants in four families. The estimated mutation rate in those families was 3.89×10-3, 20 times higher than the NF1 mutation rate (~2×10-4) (p=0.0008). Furthermore, the co-occurrence of two different NF1 germline pathogenic variants in these families was 1:39, 60 times the frequency of sporadic NF1 (1:2500) (p=0.003). In all cases, the de novo NF1 pathogenic variant was present in a descendant of an affected male. In two cases, variants were detected in the inherited paternal wild-type allele. CONCLUSIONS: Our results, together with previous cases reported, suggest that the offspring of male patients with NF1 could have an increased risk of experiencing de novo NF1 pathogenic variants. This observation, if confirmed in additional cohorts, could have relevant implications for NF1 genetic counselling, family planning and NF1 genetic testing.

A highly sensitive genetic protocol to detect NF1 mutations.

Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation hotspots, the presence of pseudogenes, and the wide variety of possible lesions. We developed a method for detecting germline mutations by combining an original RNA-based cDNA-PCR mutation detection method and denaturing high-performance liquid chromatography (DHPLC) with multiplex ligation-dependent probe amplification (MLPA). The protocol was validated in a cohort of 56 blood samples from NF1 patients who fulfilled NIH diagnostic criteria, identifying the germline mutation in 53 cases (95% sensitivity). The efficiency and reliability of this approach facilitated detection of different types of mutations, including single-base substitutions, deletions or insertions of one to several nucleotides, microdeletions, and changes in intragenic copy number. Because mutational screening for minor lesions was performed using cDNA and the characterization of mutated alleles was performed at both the RNA and genomic DNA level, the analysis provided insight into the nature of the different mutations and their effect on NF1 mRNA splicing. After validation, we implemented the protocol as a routine test. Here we present the overall unbiased spectrum of NF1 mutations identified in 93 patients in a cohort of 105. The results indicate that this protocol is a powerful new tool for the molecular diagnosis of NF1.

Factores que interfieren en la satisfaccion de las necesidades fisiológicas en alumnos de la Facultad de Enfermeria Elizabeth Seton / Factors that block in the satisfaction of Physiological needs of students of the School of nursing Elizabeth Seton

El objetivo general del estudio fue: Describir la satisfacción de las necesidades básicas fisiológicas de los estudiantes de enfermería de la Facultad Elizabeth Seton y su relación con los factores que intervienen en la satisfacción. Según Maslow, antes que una persona pueda proceder a buscar la satisfacción de necesidades a nivel más alto, es necesario que satisfaga las más fundamentales. Tomando en cuenta este concepto, se decide realizar este estudio ya que los estudiantes dentro de sus responsabilidades de estudio deben velar la satisfacción de sus propias necesidades para luego identificar con mayor facilidad la necesidad del paciente. Se observa que las actividades en el área de práctica hospitalaria presentan algunas limitaciones para la satisfacción de las necesidades del alumno, las limitaciones económicas también coadyuvan a la insatisfacción. Los resultados más sobresalientes fueron la inaccesibilidad económica que impide la satisfacción completa de la necesidad nutricional. El factor tiempo en relación a la necesidad de eliminación y a la ingesta de líquidos es predominante, impidiendo al alumno cumplir con sus requerimientos. En un bajo porcentaje, se hallan los ambientes inadecuados (baños sanitarios) en área hospitalaria que impiden la satisfacción completa

Cuidados de enfermería en unidad de terapia intensiva / Nursing care in intensive care unit

Cuidados intensivos. Atención del paciente en la unidad de cuidados intensivos estado general. Alteraciones patológicas. Transtornos psicológicos. Vigilancia. Manifestaciones objetivas. Cuidados y terapéutica. Control de infección. Función respiratoria. Vigilancia. Intubación endotraqueal. Traqueostomía. Intubación. Tipos de cánula. Tipos de respiradores. Fisioterapia respiratoria. Ventiloterapia. Drenaje pleural. Complicaciones más fecuentes en la función respiratoria. Guía de enfermería sobre modelos respiratorios. Subsistema de los líquidos corporales.