Miasis cutánea. A propósito de un caso

The term myiasis refers to infestation of wounds of live vertebrate, animal and human, with dipterous larvae that, at least for a certain period, feed in the host. In this paper we will describe the case of a 75-year-old man, with a chronic elephantiasis. The patient lived in a rural area and he had low socioeconomic status. He had not traveled to any subtropical places. Analyzing the case and with all etiologic diagnosis, we concluded the patient had an infestation by Calliphora spp.Las miasis son un parasitismo producido por larvas de dípteros que, de forma obligatoria o accidental, necesitan alimentarse de tejidos vivos o muertos. Presentamos a un paciente de 75 años con elefantiasis crónica. El paciente vivía en un área rural y tenía bajo nivel socioeconómico. No había viajado recientemente a ningún país subtropical. Analizando el caso, y según el diagnóstico etiológico, concluimos que el paciente presentaba una infestación por Calliphora spp

Mujer joven asmática con disnea de etiología muy inusual

We present the case of a 36-year-old woman with a history of bronchial asthma who presented progressive dyspnea without improvement, despite intensive steroid and bronchodilator treatment. In view of the multiple consultations in the Emergency Room, admission to Internal Medicine was decided for study. After the initial approach, and always focused on his asthmatic background, it was a surprise to find the true cause of dyspnea: an infiltrating malignant cardiac tumor of the left atrium of sarcomatous lineage, which despite being operated on, led the patient to death.Presentamos el caso de una mujer de 36 años con antecedentes de asma bronquial que presentó un cuadro de disnea progresiva sin mejoría, a pesar de tratamiento esteroideo y broncodilatador intensivo. Ante las múltiples consultas en Urgencias, se decidió ingreso en Medicina Interna para estudio. Tras el estudio inicial, y siempre enfocado por su antecedente asmático, fue una sorpresa encontrar la verdadera causa de la disnea: un tumor cardíaco maligno infiltrante de aurícula izquierda de estirpe sarcomatosa que, a pesar de ser intervenido, condujo a la paciente a la muerte

The new pharmacological chaperones PBXs increase α-galactosidase a activity in Fabry disease cellular models

Fabry disease is an X-linked multisystemic disorder caused by the impairment of lysosomal α-Galactosidase A, which leads to the progressive accumulation of glycosphingolipids and to defective lysosomal metabolism. Currently, Fabry disease is treated by enzyme replacement therapy or the orally administrated pharmacological chaperone Migalastat. Both therapeutic strategies present limitations, since enzyme replacement therapy has shown low half-life and bioavailability, while Migalastat is only approved for patients with specific mutations. The aim of this work was to assess the efficacy of PBX galactose analogues to stabilize α-Galactosidase A and therefore evaluate their potential use in Fabry patients with mutations that are not amenable to the treatment with Migalastat. We demonstrated that PBX compounds are safe and effective concerning stabilization of α-Galactosidase A in relevant cellular models of the disease, as assessed by enzymatic activity measurements, molecular modelling, and cell viability assays. This experimental evidence suggests that PBX compounds are promising candidates for the treatment of Fabry disease caused by mutations which affect the folding of α-Galactosidase A, even for GLA variants that are not amenable to the treatment with Migalastat.Fundación Biomédica Galicia Sur | Ref. OT-02-CNFXunta de Galicia | Ref. CN2012 / 18

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants

Abstract Background Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the disease characteristics and associated management of females with a GLA variant in a Spanish cohort. Results Ninety-seven females from 12 hospitals were included in this retrospective study. Mean age was 50.1 ± 17.2 years. Median follow-up time from GLA variant identification was 36.1 months, and most (70.1%) were identified through family screening. Variants associated with classic/non-classic phenotypes were similarly distributed (40.2%/53.6%). Missense variants were the most prevalent (n = 84, 86.6%). In the overall group, 70.4% had major organ involvement (i.e., cardiac, renal, cerebrovascular, peripheral nervous system or gastrointestinal), and 47.3% also had typical Fabry signs (angiokeratoma, cornea verticillata or increased plasma lyso-Gb3). Cardiac involvement was the most prevalent (49.5%) and the main reason for treatment initiation. A total of 33 (34%) patients received disease-specific therapy, 55% of whom were diagnosed by family screening. Females carrying variants associated with a classic phenotype had higher frequencies of clinical manifestations (92.3%) and were predominant in the treated subgroup (69.7%). Despite this, there were 34 untreated females (56.7% of total untreated), with both phenotypes represented, who had major organ involvement, with 27 of cardiac, renal or cerebrovascular nature. Age or comorbidities in this subgroup were comparable to the treated subgroup (P = 0.8 and P = 0.8, respectively). Conclusions Efforts have been made in recent years to diagnose and treat timely Fabry females in Spain. A high percentage of females with pathogenic variants, regardless of their associated phenotype, will likely develop disease. A proportion of females with severe disease in this cohort received specific treatment. Still a significant number of females, even with same profile as the treated ones, who may be eligible for treatment according to European recommendations, remained untreated. Reasons for this merit further investigation