Juvenile xanthogranuloma of the cauda equina.

Juvenile xanthogranuloma is a form of histiocytic proliferative disorder that usually affects the skin and tends to occur during infancy. On rare occasions, it has been reported at extracutaneous sites and in other age groups. Isolated juvenile xanthogranuloma of the nervous system is extremely rare, especially in the cauda equina. A case of juvenile xanthogranuloma of the cauda equina in a 14-year-old boy is reported, and the literature is reviewed.

Intervenciones para la exploración del pie en pacientes diabéticos, en Atención Primaria: Una revisión sistemática de Guías de Práctica Clínica / Interventions for foot examination in diabetic patients in primary care: a review of clinical practice guidelines

Objetivo principal: Identificar la mejor evidencia disponible sobre inter venciones efectivas para la exploración y estratificación del PD. Metodología: Revisión de Guías de Práctica Clínica con recomendacio nes acerca de la exploración y estratifi cación del PD. Resultados principales: Recopi lamos las intervenciones que son más efectivas para diagnosticar precozmente el PD en A.P recogidas de 10 GPC. In cluyen la evaluación visual de los pies, la valoración de la neuropatía diabética pe riférica mediante monofilamento de Semmes-Weinstein de 10 g, diapasón de 128 Hz y exploración del reflejo aquíleo, y la valoración de la enfermedad arterial periférica mediante la palpación de pul sos periféricos y determinación del índice tobillo brazo. Posteriormente estratifica ción del riesgo de desarrollar un PD. Conclusión principal: La monitori zación de las extremidades inferiores debe formar parte de los planes de cui dados de los pacientes diabéticos. Se deberían establecer unidades especiali zadas en atención al PD y poder derivar desde AP a estos pacientes (AU)

Interventions for foot examination in diabetic patients in Primary Care: A review of Clinical Practice Guidelines Main objective: To identify the best available evidence on effective in terventions in the exploration and diag nosis of DF. Methodology: Review of the Clini cal Practice Guidelines with recommen dations on the exploration and stratifica tion of DF. Main results: We compiled the interventions that are most effective for early diagnosis of DF in P.C collected in 10 CPG. They include visual assessment of their feet, assessment of diabetic pe ripheral neuropathy using a 10-g Sem mes-Weinstein monofilament, 128-Hz tuning fork, and Achilles reflex testing, assessment of peripheral arterial disease by palpation of peripheral pulses, and determination of the ankle arm index Subsequently, risk stratification of deve loping DF. Main conclusion: Monitoring of the lower extremities should be part of the care plans for diabetic patients. Spe cialized units should be established for DF care and these patients should be able to be referred from PC (AU)

¿Qué intervenciones educativas son efectivas para prevenir el pie diabético? Una Revisión de Guías de Práctica Clínica / What educational interventions are effective in preventing diabetic foot? A review of clinical practice guidelines

Objetivo principal: Identificar la mejor evidencia disponible sobre inter venciones educativas que pueden ayu dar a prevenir la aparición del Pie Diabé tico (PD) en Atención Primaria (AP). Metodología: Revisión sistemáti ca de Guías de Práctica clínica (GPC) con recomendaciones acerca de inter venciones educativas para prevenir el PD. La búsqueda se ha llevado a cabo en bases de datos de fuentes terciarias, secundarias y primarias con los descrip tores Diabetes mellitus, Pie diabético y Educación en salud. Para evaluar la cali dad de las GPC encontradas se utilizó la herramienta AGREE II. Resultados: Fueron recopiladas las intervenciones educativas que, según las 10 GPC revisadas, pueden resultar más efectivas para prevenir la aparición del PD en AP. Estas recomendaciones, han sido incluidas como actividades de los NIC (Nursing Interventions Classifica tion) relacionados con el tema. Conclusión: El resultado principal de este trabajo indica que las interven ciones educativas para prevenir la apari ción del PD deben formar parte, de ma nera inexcusable, de los planes de cui dados en los pacientes diabéticos. Son unas intervenciones que parecen ser muy costo efectivas y que, estructuradas adecuadamente, pueden contribuir a disminuir la incidencia de PD y a reducir el número de amputaciones (AU)

Main objective: Identify the best available evidence on educational inter ventions that can help prevent the ap pearance of Diabetic Foot (DF) in Pri mary Care. Methodology: Systematic review on 10 Clinical Practice Guidelines (CPG) with recommendations on education to prevent the DF. The search was carried out in databases of tertiary, secondary and primary sources with the descriptors Diabetes mellitus, Diabetic foot and Health education. The AGREE II tool was used to assess the quality of the CPGs found. Results: Were compiled the edu cational interventions that, according to the revised 10 CPG’s, are more effective in preventing the appearance of DF in Primary Care. Have been included these recommendations as NIC (Nursing Inter ventions Classification) activities related to the topic. Conclusion: The main result of this work indicates that educational inter ventions to prevent the onset of DF mus inexcusably form part of the care plans for diabetic patients. These are interven tions that appear to be very cost-effecti ve, properly structured, will help reduce the incidence of DF and reduce the num ber of amputations (AU)

Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.

Kallmann's syndrome (KS) refers to the association of hypogonadic hypogonadism and anosmia or hyposmia. The X-linked form of the disease is due to mutations in the KAL1 gene that encodes for the protein anosmin-1. We studied the KAL1 gene in a patient with KS and his family by PCR amplification and direct sequencing. A novel missense mutation (V263G) that modifies the major cell adhesion site of the anosmin-1 protein was identified. Our results suggest that this reported mutation is responsible for KS and might help to elucidate the function of an important area of the anosmin-1 protein.

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

BACKGROUND: Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene. OBJECTIVE AND DESIGN: After initial study of the proband, who had been consulted for short stature and who also presented AN, the study was extended to the patient's mother and to 12 additional family members. METHODS: Clinical, biochemical and radiological studies were performed on the family. In addition, exons 11 and 13 of FGFR3 were analyzed. RESULTS: The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. The members with normal phenotypes were non-carriers of the mutation. CONCLUSION: This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr. This finding demonstrates the coexistence of both conditions due to the same mutation and it might represent a true complex, which should be further established by searching for AN in mild HCH patients or for HCH in patients with AN.

Vasculitis livedoide: nuestra experiencia / Livedo vasculitis: our experience

Vasculitis livedoide es un síndrome cutáneo que posee un cuadro clínico característico y corresponde a cambios histopatológicos definidos como vasculitis hialinizante segmentaria con oclusión trombótica en la mayoría de los casos. Objetivo del estudio: Definir las características clínicas ante un caso probable de vasculitis livedoide. Material y método: Se estudian cuatro pacientes de sexo femenino, mediante protocolo que incluye: historia clínica y examen físico completo, laboratorio de rutina, coagulograma y estudio inmunológico, función tiroidea, hepatograma, estudio vascular periférico y biopsia cutánea con inmunofluorescencia directa. Resultados: Las asociaciones halladas fueron: patología vascular periférica, anticuerpos anticardiolipinas y patología tiroidea