Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype .

NF2-related schwannomatosis (NF2-related SWN) is an autosomal dominant condition caused by loss of function variants in the gene, which codes for the protein Merlin and is characterized by the development of multiple tumors of the nervous system. The clinical presentation of the disease is variable and related to the type of the inherited germline variant. Here, we tested if phosphorodiamidate morpholino oligomers (PMOs) could be used to correct the splice signaling caused by variants at ±13 within the intron-exon boundary region and showed that the PMOs designed for these variants do not constitute a therapeutic approach.

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

Unlabelled: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in Recently, 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.

Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.

Background: Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) is useful to predict the progression of the disease from germline pathogenic variants, which allows the clinical follow-up and the genetic counselling offered to affected families to be optimised.

Methods: 52 Spanish patients were classified using the GSS, and patients' clinical severity was measured and compared between GSS groups.

Mechanical Reinforced Terminolateral Ileo-Transverse Anastomosis: An Option After Right Hemicolectomy-A 452 Patients Study.

Introduction: Bowel reconstruction techniques after right hemicolectomy has currently been objective of review, due to the high rate of anastomotic leak. The aim of this study is to analyse our results of the mechanical reinforced terminolateral ileo-transverse anastomosis.

Materials And Methods: A prospective and descriptive study of a consecutive series of right colonic cancer cases that underwent right hemicolectomy.