ABSTRACT
MOMO es un acrónimo para los términos macrosomía, obesidad, macrocefalia y anomalías oculares. El síndrome fue descrito por primera vez en 1993, con un total de nueve pacientes publicados a la fecha. Todos los casos reportaron discapacidad intelectual y en un caso se describió a un paciente con autismo. Presentamos un nuevo caso de paciente con síndrome de MOMO que consultó por fenómenos alucinatorios. Se completó una evaluación neuropsicológica, clínica y cognitiva, en donde se demostró un cociente intelectual limítrofe y se corroboraron los criterios para trastorno del espectro autista. Ésta es la primera evaluación neurocognitiva de un paciente con MOMO, la que apoya el uso de escalas estandarizadas a fin de evaluar el autismo y otras comorbilidades psiquiátricas en pacientes con síndromes genéticos.
MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was described. We present a new case of a patient with MOMO syndrome, who consulted for hallucinatory phenomena. He completed a neuropsychological, clinical and cognitive evaluation, showing a borderline intelligence quotient and fulfilled the criteria for autism spectrum disorder. This is the first neurocognitive evaluation of a patient with MOMO, supporting the use of standardized scales in order to assess the autism and other psychiatric comorbidities in patients with genetics syndromes.
Subject(s)
Humans , Male , Adolescent , Autistic Disorder/diagnosis , Abnormalities, Multiple/psychology , Fetal Macrosomia/psychology , Coloboma/psychology , Cognition/physiology , Megalencephaly/psychology , Head/abnormalities , Intellectual Disability/psychology , Obesity/psychologyABSTRACT
The Hyperimmunoglobulin E syndrome (HIES) is a rare sporadic or autosomal dominant immune and connective tissue disorder characterized by chronic eczema, cutaneous abscesses, pneumonias, invasive infections, high levels of Immunoglobulin E, primary teeth retention and bone abnormalities. We report a 24-year-old male with a history of cutaneous abscesses and esophageal candidiasis. He was admitted due to a left gluteal cellulitis. During the fifth day of hospitalization he presented a distal necrosis of the fourth finger of the right hand. Laboratory results showed high levels of IgE and positive cryoglobulins. The patient was discharged and was admitted again five days later with a new gluteal abscess. IgE levels were even higher. Applying Grimbacher scale, the diagnosis of Hyperimmunoglobulin E syndrome was reached.
Subject(s)
Adult , Humans , Male , Young Adult , Immunoglobulin E/blood , Job Syndrome/diagnosis , Skin Diseases/diagnosis , Job Syndrome/complications , Job Syndrome/drug therapy , Skin Diseases/classification , Skin Diseases/drug therapyABSTRACT
La radiación ultravioleta produce fotodaño, por lo que tratamos de evitar su acumulación en nuestra piel. Al mismo tiempo, es esta misma, en su espectro UV-B, la responsable de iniciar la única vía metabólica para la síntesis de vitamina D en el organismo humano. La vitamina D tiene un impacto benéfico en nuestro sistema óseo, inmune, y cardiovascular, entre otros. Es por esto que se genera controversia sobre el uso de fotoprotección, en cuanto a sus beneficios versus su interferencia en la síntesis de esta vitamina liposoluble. No hemos encontrado suficiente evidencia que demuestre que el uso de fotoprotección disminuya significativamente los niveles de vitamina D, como si existe para la protección contra fotodaño que los fotoprotectores proveen. Planteamos mantener la recomendación de uso de fotoprotectores, añadiendo vitamina D como suplemento oral a la dieta encaso de deficiencia.
Ultraviolet radiation generates photodamage. Therefore, we try to avoid its accumulation in our skin. At the same time, this radiation, in its UV-B wavelength, is the only catalyst of the endogenous metabolic pathway of vitamin D synthesis. This vitamin has beneficial impact in our bones, immune and cardiovascular system, among others. This is why controversy arises regarding photoprotection, its benefits versus its interference in this lipid vitamin. We have not found concrete evidence that proves that the use of photoprotection significantly lowers vitamin D levels, though we have found vast evidence of its beneficial effects concerning photodamage prevention. We suggest following the current sunscreen recommendations, and adding vitamin D oral supplements to our diet in case of deficiency.
Subject(s)
Humans , Ultraviolet Rays/adverse effects , Vitamin D/therapeutic use , Dietary SupplementsABSTRACT
La radiación ultravioleta ha sido usada durante décadas para el tratamiento de diversas enfermedades cutáneas. La radiación ultravioleta A1 (UVA-1) que tiene una longitud de onda entre los 340nm y 400 nm está disponible desde el año 1981, pero recién en las últimas dos décadas se ha estudiado, publicado y reportado su potencial uso terapéutico en la dermatología. Los primeros beneficios de su uso se reportaron en la dermatitis atópica donde se utilizaron dosis altas de UVA-1 para tratar las exacerbaciones severas de esta condición. Luego, nuevas indicaciones terapéuticas de su uso se fueron expandiendo a otras enfermedades cutáneas tales como: morfea, liquen escleroso, queratosis liquenoide, linfomacutáneo de células T y otras dermatopatías. La radiación UVA-1 al tener una longitud de onda más larga penetra a las capas más profundas de la dermis, lo que le permite una acción en la modificación de la respuesta inflamatoria, la respuesta inmunológica y los mecanismos de reparación cutánea.
Ultraviolet light radiation has been used for decades for the treatment of several cutaneous diseases. The ultraviolet radiation A1 (UVA-1) with a wave length between 340 nm-400 nm has been available since 1981, but only in the last two decades it has been studied and published for therapeutic use in dermatology. The first reported benefits of its use were reported in atopic dermatitis in which high doses of UVA-1were used to treat severe exacerbations of this condition. Thereafter, new therapeutic indications expanded its use for other cutaneous diseases like: morphea, lichen sclerosus, lichenoid keratosis, cutaneous T cell lymphoma and other skin conditions. The UVA-1 radiation has a long wavelength that make possible to reach the deep dermis and to modify the inflammatory response, immunological response and the cutaneous repair mechanisms.
Subject(s)
Humans , Skin Diseases/radiotherapy , Ultraviolet Therapy/methods , Apoptosis/radiation effects , Cytokines/radiation effects , Dermatitis, Atopic/radiotherapy , Scleroderma, Localized/radiotherapy , T-Lymphocytes/radiation effects , Lupus Erythematosus, Systemic/radiotherapy , Skin/radiation effects , Ultraviolet Therapy/adverse effectsABSTRACT
Los pacientes pediátricos oncológicos con frecuencia presentan lesiones orales debido a su neoplasia o como efecto colateral del tratamiento. El objetivo de este estudio fue comparar la prevalencia de patologías de la mucosa oral en niños con cáncer que fueron hospitalizados y tratados con quimioterapia en el Hospital Regional de Concepción, en los años 1997 y 2007. Se realizó un estudio descriptivo retrospectivo longitudinal en datas de 148 pacientes (74 cada año) con patologías neoplásicas en tratamiento con quimioterapia (Leucemias, linfomas, tumores del Sistema Nervioso Central y otros), registrando sus datos generales y la patología bucal (mucositis (M), candidiasis (C), lesiones por Virus Herpes tipo 1 (VHS) y síndromes hemorragíparos (H) . Los datos se resumieron en tablas anuales y fueron sometidos a análisis estadísticos. Se encontró una disminución significativa del número de pacientes con patologías bucales en el año 2007 en relación al año 1997 (P<0.05, Tet de Fisher). Además se encontró una tendencia a la baja en los pacientes con candidiasis y con mucositis en el año 2007 en comparación con 1997. Es necesario seguir estudiando medidas para prevenir, diagnosticar y/o tratar tempranamente las patologías orales de los pacientes en tratamiento antineoplásico.
Pediatric oncology patients frequently have oral lesions due to malignancy or as a side effect of treatment. The aim of this study was to compare the prevalence of oral pathologies in oncology patients hospitalized and treated at the Regional Hospital of Concepción, Chile, in the years 1997 and 2007. A retrospective study was carried out in 74 patients each year. Patients suffered from acute lymphoblastic leukemia, acute myeloblastic leukemia, central nervous system tumors, lymphomas and other neoplasms. General data (age, gender, oncologic disease) and presence of oral pathologies (candidiasis, mucositis post-chemotherapy, herpetic lesions and hemorrhage) were obtained from their clinical records. Data was analyzed for statistical differences. A significant reduction in the number of patients with oral pathologies was found in 2007 in comparison to 1997 (P<0.05, Fisher´s test). In addition, candidiasis and oral mucositis showed less prevalence in 2007 as compared to 1997, although no significant differences were found. For the relevance of oral pathologies in the chemotherapy it´s important to continue studies about prevention, early detection and treatment of oral pathologies.
Subject(s)
Humans , Male , Female , Child , Antineoplastic Agents/adverse effects , Mouth Diseases/epidemiology , Mouth Diseases/chemically induced , Child, Hospitalized , Candidiasis, Oral/epidemiology , Candidiasis, Oral/chemically induced , Chile/epidemiology , Herpes Simplex/epidemiology , Herpes Simplex/chemically induced , Longitudinal Studies , Leukemia/drug therapy , Lymphoma/drug therapy , Mucositis/epidemiology , Mucositis/chemically induced , Nervous System Neoplasms/drug therapy , Prevalence , Retrospective StudiesABSTRACT
The development of diverse types of foods of low caloric value and with high content in dietary fiber have occupied a preponderant place in the food industry in the last years, due to the growing interest of the consumers for a healthy and nutritious diet. Pre-cooked or quick to prepare foods are attractive for the time they save; if to this you add their nutritious value, the attractiveness is even greater. For this reason, this study analyzes different formulations of a powder to prepare a dessert (flan), with different percentages of incorporation of nopal flour, as a source of dietary fiber (16 per cent, 18 per cent, 20 per cent). Two flavors (melon and banana) were tried. It was observed that the flan flavored with banana and with 16 per cent of nopal flour, reached better sensorial characteristics. Greater percentages of nopal flour negatively affected the sensorial characteristics, mainly flavor, color and texture. The analysis showed that the powder presented 5.7 per cent of moisture, low water activity (0.48) and therefore a low total recount of microorganisms. The content of protein was high (27.2 per cent), the ether extract low (2.0 per cent) similar to the caloric contribution (40 Kcal/portion). The flan showed a 9.8 per cent of total dietary fiber, being greater the contribution of soluble fiber (6.1 per cent) than that of insoluble fiber (3.7 per cent). Due to these characteristics this formulation could be considered as a food that provides benefits for the human health.
Subject(s)
Humans , Candy , Dietary Fiber , Flour , Opuntia , Powders , Candy/analysis , Food Analysis , Nutritive Value , Powders/analysis , Powders/chemistryABSTRACT
Se presentan 16 casos de tumores oseos malignos en ninos recopilados en un periodo de 8 anos, analizando datos clinicos, radiologicos y terapeuticos. Predomina el osteosarcoma con escasa sobrevida en general. Una vez mas se llama la atencion sobre esta patologia poco frecuente, pero que por su alta mortalidad requiere un enfoque multidisciplinario