Indicaciones y seguimiento domiciliario de la tos asistida mecánica en el paciente neuromuscular / Indications and domiciliary follow-up of mechanical insufflation-exsufflation in patients with neuromuscular disorders

Introducción: La insuflación-exuflación mecánica (MI-E) es una importante terapia respiratoria para el enfermo neuromuscular, pero existen pocos datos publicados en relación con su uso en el domicilio. Objetivo: Evaluar las características clínicas de los pacientes en los que se prescribe la MI-E y analizar su cumplimiento, seguridad y causas de retirada a largo plazo. Material y métodos: Estudio observacional retrospectivo de 78 adultos con enfermedad neuromuscular a los que se les prescribió MI-E a domicilio en un hospital de tercer nivel entre enero de 2009 y junio de 2015. Se describen las características clínicas y funcionales en el momento de la indicación de la terapia, la frecuencia y los parámetros de uso, los efectos secundarios, así como las causas de abandono de la terapia y la mortalidad. Resultados: La mayoría de los pacientes eran hombres (67%), con una mediana de edad de 58 años. El diagnóstico mayoritario fue la esclerosis lateral amiotrófica (45% de los casos). Tenían afectación bulbar moderada-grave el 36% y el 22% utilizaba el dispositivo solo en fase insuflatoria. El 14% de los pacientes eran portadores de traqueostomía y el 69% de los casos utilizaban también ventilación mecánica. El cuidador era mayoritariamente quien realizaba la técnica (86%), diariamente en el 73% de los casos. Desde la prescripción fallecieron el 38% de los pacientes, la mayoría afectados de esclerosis lateral amiotrófica (96%), con una mediana de supervivencia de 8 meses. En un 6% la MI-E se retiró por ineficacia. Se describió un solo caso de efecto secundario, que no contraindicó el uso de la terapia. Conclusiones: La MI-E prescrita a domicilio es una técnica segura, con cumplimiento adecuado, incluso en pacientes con afectación bulbar y asociada a ventilación mecánica. Se constata la dependencia del enfermo hacia su cuidador para su práctica

Introduction: Mechanical insufflation-exsufflation (MI-E) is an important respiratory therapy for neuromuscular disorders, but there are few published data on its use at home. Objective: To assess the clinical characteristics of patients prescribed MI-E, and to analyse compliance, safety, and causes for long-term withdrawal. Material and methods: Retrospective observational study of 78 adults with neuromuscular disorders who were prescribed MI-E at home in a third level hospital from January 2009 to June 2015. The clinical and functional characteristics when the therapy was indicated, the frequency and parameters of use, adverse effects and causes of withdrawal and mortality were evaluated. Results: Most patients were men (67%) with a median age of 58 years. The main diagnosis was amyotrophic lateral sclerosis (45% of cases). Moderate-severe bulbar involvement was present in 36%, and 22% used the device only in the insufflation phase. Fourteen percent of patients had a tracheostomy and 69% of the patients underwent mechanical ventilation. MI-E was mostly performed by the caregiver (86%), on a daily basis in 73% of the patients. After prescription, 38% patients died; most of these patients had amyotrophic lateral sclerosis (96%), with a median survival of 8 months. In 6%, MI-E was withdrawn due to ineffectiveness. An adverse effect was reported in only one patient and did not contraindicate the use of the therapy. Conclusions: In our experience, MI-E prescribed at home was well tolerated and safe, even in patients with bulbar involvement. Patients showed good compliance with MI-E alone or associated with mechanical ventilation, but required help from caregivers for its performance

FOXP1 molecular cytogenetics and protein expression analyses in primary cutaneous large B cell lymphoma, leg-type.

FOXP1 protein is expressed in normal activated B cells and overexpressed in a subset of diffuse large B-cell lymphomas, including primary cutaneous large B-cell lymphomas (PCLBCL), leg type. High expression of FOXP1 has been associated to an unfavourable prognosis with independent survival significance. However, little is known regarding the mechanisms underlying the overexpression of FOXP1 in PCLBCL, leg type. Our aims were to analyze FOXP1 cytogenetic status and protein expression in a series of PCLBCL, leg type. Finally, we compared the observed results with those obtained in a group of patients with primary cutaneous follicle centre lymphoma (PCFCL). Fifteen patients with PCLBCL, leg type and nine patients with primary cutaneous follicle centre lymphoma (PCFCL) were included in the study. For each biopsy specimen, FOXP1 translocation and copy number changes were evaluated by fluorescence in situ hybridization (FISH) and protein expression by immunohistochemistry (IHC). Immunohistochemistry showed FOXP1 staining in 13 PCLBCL, leg type, whereas all PCFCL were negative. FISH analysis disclosed no translocations involving FOXP1 gene in any of the cases. However, FOXP1 gene gains (3 to 4 copies) were observed in 82% of samples of PCLBCL, leg type and in 37% of PCFCL. FOXP1 expression was independent from FOXP1 translocation. Our results confirm that overexpression of FOXP1 is present in a considerable proportion of PCLBCL, leg type and might indicate an unfavourable prognosis. Mechanisms not related to translocation seem to be responsible for this overexpression.

Widespread nevus spilus associated with torsion dystonia: a case report.

Usually speckled lentiginous nevus or nevus spilus is a small solitary lesion consisting of a light tan patch with numerous dark brown macules or papules (or both) within it. It is occasionally associated with complex birth defects such as phacomatosis pigmentovascularis, phacomatosis pigmentokeratotica, or speckled lentiginous nevus syndrome. Uncommon presentations include large segmental lesions that may or may not be systematized and can sometimes be associated with other anomalies. We hereby report a 6-year-old Caucasian patient with systematized nevus spilus associated with torsion dystonia, a combination not published thus far.

Absence of MALT1 translocations in primary cutaneous marginal zone B-cell lymphoma.

The implication of MALT1 gene in the pathogenesis of primary cutaneous marginal zone B-cell lymphomas (PCMZL) has been a matter of controversy. We examined the presence of MALT1 translocations in a series of 23 PCMZL. FISH assay with a MALT1 dual color break apart translocation probe revealed the absence of MALT1 translocations in all cases.