Síndrome de Peutz-Jeghers. Presentación de un caso

El Síndrome de Peutz-Jeghers es una enfermedad que se hereda con un patrón autosómico dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. Se estima que afecta alrededor de 1 de cada 25,000 a 300,000 nacimientos. Es causado por la mutación del gen STK11 (LKB1), es un gen supresor tumoral que se inactiva con la mutación, que se localiza en el cromosoma 19p. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es presentar el caso de un niño con características fenotípicas y antecedentes familiares de esta enfermedad

Síndrome de Peutz-Jeghers. Presentación de un caso

El Síndrome de Peutz-Jeghers es una enfermedad que se hereda con un patrón autosómico dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. Se estima que afecta alrededor de 1 de cada 25,000 a 300,000 nacimientos. Es causado por la mutación del gen STK11 (LKB1), es un gen supresor tumoral que se inactiva con la mutación, que se localiza en el cromosoma 19p. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es presentar el caso de un niño con características fenotípicas y antecedentes familiares de esta enfermedad

Genetic Screening of the Usher Syndrome in Cuba

BackgroundUsher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in Europe and United States, there is a lack of studies in other regions like Africa or Central and South America.MethodsWe designed a NGS panel that included the 10 USH causative genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN1), four USH associated genes (HARS, PDZD7, CEP250, and C2orf71), and the region comprising the deep-intronic c.7595-2144A>G mutation in USH2A.ResultsNGS sequencing was performed in 11 USH patients from Cuba. All the cases were solved. We found the responsible mutations in the USH2A, ADGRV1, CDH23, PCDH15, and CLRN1 genes. Four mutations have not been previously reported. Two mutations are recurrent in this study: c.619C>T (p.Arg207∗) in CLRN1, previously reported in two unrelated Spanish families of Basque origin, and c.4488G>C (p.Gln1496His) in CDH23, first described in a large Cuban family. Additionally, c.4488G>C has been reported two more times in the literature in two unrelated families of Spanish origin.ConclusionAlthough the sample size is very small, it is tempting to speculate that the gene frequencies in Cuba are distinct from other populations mainly due to an “island effect” and genetic drift. The two recurrent mutations appear to be of Spanish origin. Further studies with a larger cohort are needed to elucidate the real genetic landscape of Usher syndrome in the Cuban population

Síndrome Costello. Reporte de un caso

El síndrome de Costello es una enfermedad poco frecuente, se caracteriza por talla baja, retraso en el desarrollo y facies característica. Se hereda con patrón autosómico dominante, aunque se han descrito muchos casos esporádicos, donde la mutación se produjo en células germinales, apareciendo de novo, como mutación nueva. Se presenta un caso con retardo en el desarrollo pondoestatural y psicomotor, asociado a facie tosca. Se considera importante el método clínico para realizar diagnóstico de estas enfermedades raras, donde es necesario la estimulación temprana y el asesoramiento genético a los familiare

Metronidazole thermogel improves retention and decreases permeation through the skin

ABSTRACT Metronidazole (MTZ) is widely used as the standard antibiotic for the treatment of rosacea and, more recently, is being used off label in Brazilian hospitals for the treatment of wounds. Following oral administration, minimal amounts of active agent reaches the skin and side effects are strongly induced. Consequently, MTZ is currently being applied topically in order to improve the therapeutic efficacy with reduced side effects, with Rozex(r) (RZ) (an MTZ gelled formulation) being the only marketed product. This study examined whether the use of MTZ 0.75% from thermogel formulations could improve drug retention and reduce dermal exposure compared to that by Rozex(r). Following a 21 h permeation study, the highest total amount of MTZ permeated through the rat healthy and disturbed skin was seen with Rozex(r), but similar to all formulations regardless of the skin condition. On the other hand, the amount retained in the epidermis/dermis was larger for thermogel formulations; at least 4 fold that of Rozex(r), when the stratum corneum was present as a barrier. In conclusion, thermogel formulations can be favorable alternatives to Rozex(r) for the topical application of MTZ with improved efficacy and reduced side effects

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved