Acalasia esofágica en estadio avanzado como hallazgo incidental tras traumatismo torácico / End-stage Esophageal Achalasia as Incidental Finding After Thoracic Trauma

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Risk factors and topographies for self-injurious behaviour in a sample of adults with intellectual developmental disorders.

BACKGROUND: Self-injurious behaviour (SIB) is a prevalent form of challenging behaviour in people with intellectual developmental disorders (IDD). Existing research has yielded conflicting findings concerning the major risk factors involved, and in addition, SIB shows multiple topographies and presentations. Although presence of autism spectrum disorders (ASD) and severity of intellectual disability (ID) are known risk factors for SIB, there are no studies comparing SIB topographies by severity degrees of ID and ASD. The purpose of the present paper has been to identify risk factors and topographies for SIB in a representative, stratified and randomised sample of adults with IDD. METHOD: This study was conducted on the basis of data collected by the POMONA-ESP project, in a sample of 833 adults with IDD. Data concerning demographic and health information, ASD symptoms, psychopathology and ID, have been analysed to determine the presence of risk factors for SIB among participants and to explore the occurrence and topographies of SIB across different severity levels of ID and ASD symptoms. RESULTS: Self-injurious behaviour prevalence in the sample was 16.2%. Younger age, oral pain, greater severity of ID, presence of dual diagnosis, psychiatric medication intake and higher scores on Childhood Autism Rating Scale were risk factors for SIB among participants, whereas number of areas with functioning limitations, place of residence, diagnosis of epilepsy and sex were not. SIB was more frequent in participants with ASD symptoms regardless of its severity level, and they displayed a higher number of different topographies of SIB. People with profound ID without co-morbid ASD symptoms showed similar results concerning SIB prevalence and topographies. CONCLUSIONS: Knowledge on risk factors and topographies of SIB might play a vital role in the development of prevention strategies and management of SIB in people with IDD. The mere presence of ASD symptoms, regardless of its severity level, can be a crucial factor to be taken into account in assessing SIB. Accordingly, the presence of SIB in people with ID, especially when presented with a varied number of topographies, might provide guidance on ASD differential diagnosis.

Efectos adversos cutáneos del imatinib (inhibidor de la tirosín cinasa) / Adverse Skin Effects of Imatinib, a Tyrosine Kinase Inhibitor

El imatinib mesilato es un inhibidor de la tirosín cinasa de administración oral que inhibe la BCR-abl, c-KIT y el platelet-derived growth factor receptor (PDGFR). Sus indicaciones fundamentales son la leucemia mieloide crónica y los tumores del estroma gastrointestinal. En Dermatología se emplea en enfermedades como el dermatofibrosarcoma protuberans, esclerosis sistémica y mastocitosis sistémica, entre otras. Es un fármaco en general bien tolerado, con la mayoría de efectos adversos leves o moderados. Los efectos secundarios dermatológicos son muy frecuentes e incluyen erupciones cutáneas inespecíficas como edema o erupciones maculopapulosas o con características clínicas distintivas (liquenoides, psoriasiformes, pustulosis exantemática aguda generalizada, síndrome de Stevens- Johnson…). Identificar y tratar correctamente estas reacciones puede ayudar a optimizar la adherencia del paciente al tratamiento y mejorar el pronóstico de su enfermedad de base

Imatinib mesylate is a tyrosine kinase inhibitor that targets the BCR-ABL, c-kit, and PDGF (platelet-derived growth factor) receptors. Imatinib is mainly indicated for chronic myeloid leukemia and gastrointestinal stromal tumors but is also prescribed by dermatologists for dermatofibrosarcoma protuberans, systemic sclerosis, and systemic mastocytosis, among other conditions. Most adverse effects are mild or moderate and therapy is generally well tolerated. Adverse skin effects are very common and include nonspecific manifestations such as edema and maculopapular rashes or eruptions of diverse types (lichenoid or psoriasiform lesions, acute generalized exanthematic pustulosis, Stevens-Johnson syndrome, and more). Identifying and properly treating these reactions can help optimize adherence to treatment and improve the prognosis of the underlying disease

Adverse skin effects of imatinib, a tyrosine kinase inhibitor.

Imatinib mesylate is a tyrosine kinase inhibitor that targets the BCR-ABL, c-kit, and PDGF (platelet-derived growth factor) receptors. Imatinib is mainly indicated for chronic myeloid leukemia and gastrointestinal stromal tumors but is also prescribed by dermatologists for dermatofibrosarcoma protuberans, systemic sclerosis, and systemic mastocytosis, among other conditions. Most adverse effects are mild or moderate and therapy is generally well tolerated. Adverse skin effects are very common and include nonspecific manifestations such as edema and maculopapular rashes or eruptions of diverse types (lichenoid or psoriasiform lesions, acute generalized exanthematic pustulosis, Stevens-Johnson syndrome, and more). Identifying and properly treating these reactions can help optimize adherence to treatment and improve the prognosis of the underlying disease.

Novedades en el diagnóstico y tratamiento del síndrome periódico asociado al receptor del factor de necrosis tumoral / Advances in the Diagnosis and Treatment of Tumor Necrosis Factor Receptor---Associated Periodic Syndrome

El síndrome periódico asociado al receptor del factor de necrosis tumoral (TRAPS) es una rara enfermedad autosómica dominante que forma parte de los síndromes autoinflamatorios. Se caracteriza por episodios recurrentes de fiebre e inflamación en distintos sitios del organismo, siendo sus principales manifestaciones: las mialgias, el exantema eritematoso migratorio, el edema periorbitario y el dolor abdominal. El diagnóstico se realiza mediante el análisis genético y su pronóstico está determinado por el desarrollo de amiloidosis, secundaria a los episodios inflamatorios repetidos. Los tratamientos más utilizados son los corticoides y los inhibidores del TNF. Durante los últimos años, gracias a un mayor conocimiento de su patogénesis, se han logrado importantes avances en su diagnóstico y tratamiento. Como dermatólogos es importante tener en cuenta que las manifestaciones cutáneas son particularmente importantes en el TRAPS, ya que muchas veces guían al clínico hacia su correcto diagnóstico (AU)

Tumor necrosis factor receptor–associated periodic syndrome (TRAPS) is a rare autosomal dominant disease included in the group of autoinflammatory syndromes. It is characterized by recurrent episodes of fever and inflammation in different regions of the body. The main clinical manifestations are myalgia, migratory erythematous rash, periorbital edema, and abdominal pain. The diagnosis is reached using gene analysis and prognosis depends on the appearance of amyloidosis secondary to the recurrent episodes of inflammation. Tumor necrosis factor inhibitors and corticosteroids are the most widely used treatments. In recent years, significant advances have been made in the diagnosis and treatment of TRAPS, thanks to a better understanding of its pathogenesis. Dermatologists must be aware that the skin manifestations of TRAPS are particularly important, as they are often diagnostic (AU)

Advances in the diagnosis and treatment of tumor necrosis factor receptor-associated periodic syndrome.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominant disease included in the group of autoinflammatory syndromes. It is characterized by recurrent episodes of fever and inflammation in different regions of the body. The main clinical manifestations are myalgia, migratory erythematous rash, periorbital edema, and abdominal pain. The diagnosis is reached using gene analysis and prognosis depends on the appearance of amyloidosis secondary to the recurrent episodes of inflammation. Tumor necrosis factor inhibitors and corticosteroids are the most widely used treatments. In recent years, significant advances have been made in the diagnosis and treatment of TRAPS, thanks to a better understanding of its pathogenesis. Dermatologists must be aware that the skin manifestations of TRAPS are particularly important, as they are often diagnostic.

Tratamiento de la enfermedad de Hailey-Hailey con láser de dióxido de carbono: tratamiento en 8 pacientes / Carbon Dioxide Laser Treatment in Hailey-Hailey Disease: A Series of 8 Patients

Introducción y objetivos: La enfermedad de Hailey-Hailey (EHH) o pénfigo familiar benigno es un rara genodermatosis ampollosa con herencia autosómica dominante. Cursa con erosiones cutáneas, localizadas principalmente en los grandes pliegues, que se sobreinfectan y pueden ser muy dolorosas e incapacitantes para los pacientes. Es una afección difícil de tratar, y aunque se han usado múltiples tratamientos tópicos y sistémicos para controlar los brotes de la enfermedad, ninguno de ellos consigue remisiones a medio-largo plazo. Pacientes y método: Realizamos un estudio retrospectivo de una serie de 8 casos de EHH tratados con láser CO2 en nuestro centro desde 1999 a 2011. Los pacientes tratados tenían una media de edad de 50,7 años, siendo 4 de ellos hombres y 4 mujeres. El seguimiento de los pacientes osciló entre uno y 12 años. Resultados: De los 8 pacientes tratados 6 obtuvieron unos resultados satisfactorios (4 pacientes con mejoría clínica>75% y 2 pacientes entre 50-75%). Esta eficacia se mantuvo a lo largo del tiempo. Los peores resultados se observaron en los pacientes tratados con potencias más bajas. Las zonas con recidiva de la enfermedad después del tratamiento se trataron con una segunda sesión de láser con buena respuesta. No observamos efectos adversos, salvo ligeros cambios texturales y de la pigmentación. Conclusiones: El láser de CO2 es un tratamiento eficaz y seguro a medio-largo plazo en los casos de EHH sintomáticos y refractarios a tratamientos convencionales (AU)

Introduction and objectives: Hailey-Hailey disease (HHD), or benign familial pemphigus, is arare autosomal dominant genodermatosis characterized by the formation of blisters. Eruptionsare usually located in large skin folds, and when blisters become infected the condition can bevery painful and disabling. HHD is difficult to treat. Many topical and systemic treatments have been used to bring exacerbations under control, but none have achieved medium- to long-term remission. Patients and methods: Retrospective study of 8 patients with HHD treated with carbon dioxide laser therapy in our hospital between 1999 and 2011. The patients’ mean age was 50.7 years. The 4 men and 4 women were followed for between 1 and 12 years. Results: Satisfactory outcomes were achieved for 6 of the patients. Clinical improvement was observed in more than 75% of the affected area in 4 patients and in 50% to 75% of the area in 2 patients. The effect of treatments was maintained over time. The poorest outcomes were observed in patients treated at lower potencies. When blistering recurred after treatment, a second laser session achieved a good response. We observed no adverse events other than slight changes in skin texture and pigmentation. Conclusions: Carbon dioxide laser therapy was safe and effective in producing medium- to long-term improvement in HHD symptoms that were refractory to conventional treatments (AU)

Carbon dioxide laser treatment in Hailey-Hailey disease: a series of 8 patients.

BACKGROUND: Hailey-Hailey disease (HHD), or benign familial pemphigus, is a rare autosomal dominant genodermatosis characterized by the formation of blisters. Eruptions are usually located in large skin folds, and when blisters become infected the condition can be very painful and disabling. HHD is difficult to treat. Many topical and systemic treatments have been used to bring exacerbations under control, but none have achieved medium- to long-term remission. PATIENTS AND METHODS: Retrospective study of 8 patients with HHD treated with carbon dioxide laser therapy in our hospital between 1999 and 2011. The patients' mean age was 50.7 years. The 4 men and 4 women were followed for between 1 and 12 years. RESULTS: Satisfactory outcomes were achieved for 6 of the patients. Clinical improvement was observed in more than 75% of the affected area in 4 patients and in 50% to 75% of the area in 2 patients. The effect of treatments was maintained over time. The poorest outcomes were observed in patients treated at lower potencies. When blistering recurred after treatment, a second laser session achieved a good response. We observed no adverse events other than slight changes in skin texture and pigmentation. CONCLUSIONS: Carbon dioxide laser therapy was safe and effective in producing medium- to long-term improvement in HHD symptoms that were refractory to conventional treatments.

Family burden related to clinical and functional variables of people with intellectual disability with and without a mental disorder.

Few studies have been found that to assess the factors that explain higher levels of family burden in adults with intellectual disability (ID) and intellectual disability and mental disorders (ID-MD). The aims of this study were to assess family burden in people with ID and ID-MD and to determine which sociodemographic, clinical and functional disability variables account for family burden. The sample is composed of pairs of 203 participants with disability and their caregivers, of which 33.5% are caregivers of people with ID and 66.5% of ID-MD. Assessments were performed using scales of clinical and functional disability as the following instruments: Weschler Adult Intelligence Scale-III (WAIS-III), Inventory for Client and Agency Planning (ICAP), Psychiatric Assessment Schedule for Adults with Development Disability (PAS-ADD checklist), Disability Assessment Schedule of the World Health Organization (WHO-DAS-II) and family burden (Subjective and Objective Family Burden Inventory - SOFBI/ECFOS-II). People with ID-MD presented higher levels of functional disability than those with ID only. Higher levels of family burden were related to higher functional disability in all the areas (p<0.006-0.001), lower intelligence quotient (p<0.001), diagnosis of ID-MD (p<0.001) and presence of organic, affective, psychotic and behavioral disorders (p<0.001). Stepwise multiple regression showed that behavioral problems, affective and psychotic disorder, disability in participation in society, disability in personal care and presence of ID-MD explained more than 61% of the variance in family burden. An integrated approach using effective multidimensional interventions is essential for both people with ID and ID-MD and their caregivers in order to reduce family burden.

[Cavernous hemangiomas of the brain: report of 2 cases]. / Hemangiomas cavernosos encefálicos: presentación de dos casos.

Two cases of encephalic cavernous hemangiomas successfully surgically treated are described. Neurological clinical picture is not characteristic and it is given by the size, number and location of lesions in addition to the possibility of bleeding. Precise diagnostic done by angiography, gammagraphy and CT scan is of utmost importance to consider surgical approach. Surgery is the best means to treat the lesion although if surgery is contraindicated prognosis is poor due to episodes of hemorrhage that can accompany this pathology.

Hemangiomas cavernosos encefalicos.Presentacion de dos casos. / Encephalic cavernous hemangiomas. Report of 2 cases

Dos casos de hemangiomas cavernosos encefalicos intervenidos quirurgicamente con resultados satisfactorios son relatados.Consideramos necesario la practica de estudios angiograficos,gammagraficos y sobre todo la tomografia axial computada con el objeto de aproximarse a un diagnostico cierto. El tratamiento de eleccion es quirurgico, siendo el pronostico reservado en caso de no ser posible la intervencion; asi recalcamos la necesidad de efectuar un diagnostico precoz y determinar las posibilidades quirurgicas, a fin de beneficiar al maximo los pacientes