Search

Introducción: La malnutrición proteico-energética (MPE) es un síndrome geriátrico muy frecuente que varia entre un 15 y 60% dependiendo del nivel asistencial analizado. Un estado nutricional deficiente dará lugar a una mayor morbilidad y mortalidad en la persona anciana. Objetivos: Estudiar la prevalencia de la desnutrición proteico-energética en personas atendidas en diferentes centros Mutuam y Fundación Conviure. Material y métodos: Se ha realizado una valoración nutricional en las personas atendidas en los diferentes centros Mutuam y Fundación Conviure. La valoración incluye el estudio del nivel cognitivo mediante MMS y GDS Reisberg, situación funcional (Índice Barthel) valoración de riesgo de úlceras (escala Norton), existencia depresión (Yesavage), comorbilidad (índice Charlson), trastornos del comportamiento alimentario (Blandford) y el estado nutricional se valora mediante el MNA. Resultados: Se han valorado 688 pacientes de los cuales un 65% tenían edad superior a 80 años siendo la mayoría enfermos ingresados en régimen de Larga estancia, Convalecencia, Residencia Asistida y Centros de Día, existía un mayor deterioro funcional los pacientes de Larga Estancia y Paliativos, conservando mayor autonomía los de Residencias y Centros de Día. El peor deterioro cognitivo se observa en enfermos de Larga Estancia y Centros de Día. A nivel nutricional el MNA revelaba un riesgo de malnutrición en todos los centros (53,8%) excepto en centros de Día. La desnutrición establecida la encontramos en 17,7% de los pacientes y en número superior en enfermos paliativos 45% y en larga estancia 38,1%. Conclusiones: La malnutrición proteico-energética es muy frecuente en los centros de internamiento en especial en centros de larga estancia. La malnutrición se correlaciona con un mayor deterioro funcional y cognitivo. El MNA es un buen indicador de riesgo nutricional como método de screening y para adoptar medidas preventivas en casos de riesgo. [ABSTRACT FROM AUTHOR]

The epidermal cyst, also called infundibular cyst, is a common benign skin tumor. This stems from the infundibular portion of the hair follicle, which rarely affects hairless areas such as the palms and soles. The etiology of epidermal cysts on palms and soles may be different from that caused by inflammation of the hair follicle. We report the case of a 30-year-old female patient with a lump in right plant, histology showed epidermal cyst. After surgical excision patient presented an adequate functional outcome without recurrence. [ABSTRACT FROM AUTHOR]

Pompe disease is a rare genetic disorder produced by a deficiency or absence of alpha-glucosidase enzyme leading to glycogen accumulation in several tissues including but not limited to cardiac and skeletal muscle. Two main clinical phenotypes have been classically described: Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD) that share skeletal muscle weakness. There is scarce data from Spain regarding the existing number of cases, their regional distribution, the genetic and clinical features or the number of patients that are receiving treatment. We have developed the Spanish Pompe Registry, which is doctor initiated and a dedicated data entry who visits all sites and include data of patients with a consent form. Here we analyzed the data of the 122 patients included between 2019 and 2022 including LOPD and IOPD phenotypes from 29 sites in Spain. We collected information about demographics, family history, clinical features, ancillary tests, functional outcomes and response to treatments from each individual clinical report. 113 patients were classified as LOPD while 9 had an IOPD phenotype. 68 patients were males (55,7%). The mean age of our population was of 28.65 years old (SD 42,75). 44 patients had family history of Pompe, being in 39 of them their siblings. The most common place of birth reported was Andalusia (23) followed by Catalonia (19). The origin of the family was obtained in 71 patients, being the most common region Andalusia (38 progenitors) followed by Catalonia (10 progenitors). 98 patients were symptomatic. The most frequent symptom reported was lower limb and axial weakness in 60.7%. 40 patients required ventilation support being non-invasive in 34 patients and invasive in 6 patients. 93 had high levels of CK with a mean value of 716 UI/L. The most common mutation reported was IVS1-13T>G (c.‐13‐32T>G) in 81 patients. None of the IOPD patients carried the IVS1-13T>G mutation. 89 patients were treated with ERT with Myozyme™ being the mean period of treatment of 8 years (Range 4 months – 18 years). The Spanish Pompe Registry give us valuable information about the demographics and clinical features of our population of patients with this rare disease. A better understanding of the disease and its distribution along the country may contribute to improve the quality of their health assistance. [ABSTRACT FROM AUTHOR]

Late Onset Pompe patients (LOPD) is the main phenotype on Pompe disease that start with symptoms from the age of two years to late in the adulthood. Because of the heterogeneity of the disease, it has been described the Juvenile Onset Pompe Disease (JOPD) subgroup, who become symptomatic between 2 and 18 years old. We describe the demographic and clinical features of all JOPD patients and their progression (using six-minute walking test -6MWT-, forced vital capacity -FVC- and Creatin Kinase -CK- values and comparing it with the other LOPD patients) registered at the Spanish Pompe Registry (SPR), with 121 patients registered in Spain. We identified 28 JOPD patients (18.8%) in the SPR, with 16 males (57%), median age of symptoms onset was 8.5 years. The most frequent mutation was c.32-13T>G in 19 patients (68%). HyperCKemia was the most common reason for diagnosis in 17 (61%) patients. 19 patients (68%) developed muscle symptoms, being lower limbs weakness the most predominant (13). 9 (34.6%) developed respiratory symptoms, 2 (7%) of them before 18 years. All JOPD received Enzyme Replacement Therapy. JOPD patients showed significantly baseline higher CK values compared to LOPD (p<0.001) but tended to decline over time, without any significant difference of the progression of CVF and 6MWT (Mann-Whitney test). Most of the JOPD patients in the SPR were diagnosed because of hyperckemia, and lower limbs muscle weakness before 18 years old. We have not identified differences in the progression of the disease between JOPD patients and LOPD patients. [ABSTRACT FROM AUTHOR]