RESUMEN
BACKGROUND: Rosacea is an inflammatory condition of the face characterized in its early stages by flushing, erythema and telangiectasias. OBJECTIVES: We evaluate the efficacy of long-pulsed Nd:YAG laser on erythematousteleangiectasic rosacea (ETR). METHODS: In a retrospective case study of 21 patients (14F, 7M) with an average age of 29â¯years (range 19-41), were treated with two sessions at a distance of one month, with phototype up to III (5 phototype 1, 14 phototype II, 2 phototype III) with a fluence of 20â¯J/cm2. RESULTS: We observed a reduction of the erythematous component between 50% and 80% after two sessions, with an average pain score attributed to the treatment, measured by visual analogue scale (VAS), of 3. CONCLUSION: In this case series in which Nd:YAG laser had been used with a "'in motion" technique, we observed a reduction of the side effects and pain.
Asunto(s)
Láseres de Estado Sólido , Rosácea , Telangiectasia , Humanos , Adulto Joven , Adulto , Láseres de Estado Sólido/uso terapéutico , Estudios Retrospectivos , Rosácea/radioterapia , Eritema/etiología , Telangiectasia/radioterapia , Telangiectasia/etiología , Dolor/etiología , Resultado del TratamientoRESUMEN
BACKGROUND: Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome. CASE PRESENTATION: In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development). CONCLUSION: Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos X/genética , Fisura del Paladar/genética , Hormona del Crecimiento/deficiencia , Pérdida Auditiva/genética , Discapacidad Intelectual/genética , Adolescente , Secuencia de Bases , Hibridación Genómica Comparativa , Cartilla de ADN/genética , Humanos , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD). RESULTS: Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding. CONCLUSIONS: Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.
Asunto(s)
Distroglicanos/genética , Manosiltransferasas/genética , Músculo Esquelético/patología , Distrofia Muscular de Cinturas/genética , Mutación/genética , Adolescente , Distroglicanos/metabolismo , Femenino , Glicosilación , Humanos , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/metabolismoRESUMEN
Age has proved to be an important prognostic factor in patients with advanced non-Hodgkin lymphoma (NHL) and these patients require intensive and extensive therapy. Dose-reduction and therapy attenuation have reduced treatment-related toxicity, but have also decreased therapeutic efficacy. Between January 1990 and December 1992, 41 previously untreated patients, 65 years with stage 2-4 intermediate- or high-grade NHL were treated with a new therapeutic scheme which included Mitoxantrone, Etoposide, Cyclophosphamide and Prednisone (MiCEP). Twenty-eight patients achieved a complete remission, ten patients partial remission (overall response rate of 93%) and two cases were resistant. The overall survival was 66% with a median follow-up of 24 months from diagnosis: three patients relapsed after a median period of 7 months. The relapse-free survival was 92% after a median follow-up of 18 months. Blood and other organ toxicity was acceptable and 12% of patients experienced a grade 4 (WHO) neutropenia. In conclusion, MiCEP was effective in inducing a good remission rate with moderate toxic effects in elderly patients with intermediate- or high-grade NHL and appears to be a useful combination to use in this group of patients.