Genetics and Epigenetics of Nasal Polyposis: A Systematic Review.

Chronic rhinosinusitis (CRS) is an inflammatory disease of the nose and paranasal sinuses that is often associated with nasal polyposis (CRSwNP) in the most severe cases. As in other complex diseases, genetic factors are thought to play an important role in the risk and development of the disease. Environment may also modulate the epigenetic signature in affected patients. In the present systematic review, we aimed to compile all published data on genetic and epigenetic variations in CRSwNP since 2000. We found 104 articles, 24 of which were related to epigenetic studies. We identified more than 150 genetic variants in 99 genes involved in the pathogenesis of nasal polyposis. These were clustered into 8 main networks, linking genes involved in inflammation and immune response (eg, MHC), cytokine genes (eg, TNF), leukotriene metabolism, and the extracellular matrix. A total of 89 miRNAs were also identified; these are associated mainly with biological functions such as the cell cycle, inflammation, and the immune response. We propose a potential relationship between genes and the miRNAs identified that may open new lines of investigation. An in-depth knowledge of gene variants and epigenetic traits could help us to design more tailored treatment for patients with CRSwNP.

Genetics and Epigenetics of Nasal Polyposis: A Systematic Review

Chronic rhinosinusitis (CRS) is an inflammatory disease of the nose and paranasal sinuses that is often associated with nasal polyposis (CRSwNP) in the most severe cases. As in other complex diseases, genetic factors are thought to play an important role in the risk and development of the disease. Environment may also modulate the epigenetic signature in affected patients. In the present systematic review, we aimed to compile all published data on genetic and epigenetic variations in CRSwNP since 2000. We found 104 articles, 24 of which were related to epigenetic studies. We identified more than 150 genetic variants in 99 genes involved in the pathogenesis of nasal polyposis. These were clustered into 8 main networks, linking genes involved in inflammation and immune response (eg, MHC), cytokine genes (eg, TNF), leukotriene metabolism, and the extracellular matrix. A total of 89 miRNAs were also identified; these are associated mainly with biological functions such as the cell cycle, inflammation, and the immune response. We propose a potential relationship between genes and the miRNAs identified that may open new lines of investigation. An in-depth knowledge of gene variants and epigenetic traits could help us to design more tailored treatment for patients with CRSwNP (AU)

[Cochlear implants in obliterated or ossified cochleas]. / Implantes cocleares en cócleas obliteradas o semiosificadas.

Our last cases of cochlear implants in obliterated or ossified cochleas are presented, and we had described the surgical technique for double-array or compressed system. In our opinion the best surgical method is the combined approach (endoaural with aticotomy view and posterior timpanotomy) for increased promontory view. This technique provides the advantage that it always preserve the posterior wall of the external ear canal, and the array is positioned easily.

Implantes cocleares en cócleas obliteradas o semiosificadas / Cochlear implants in obliterated or ossified cochleas

Presentamos los últimos casos de IC en cócleas obliteradas u osificadas, describiendo la técnica quirúrgica más apropiada para el empleo de los portaelectrodos bífidos o comprimidos, destacando la importancia de la vía combinada (endoaural con aticotomía y timpanotomía posterior) para lograr la mejor visualización del promontorio. Este método tiene la ventaja de respetar la pared posterior del CAE en todos los casos y lograr con facilidad la colocación del implante

Our last cases of cochlear implants in obliterated or ossified cochleas are presented, and we had described the surgical technique for double-array or compressed system. In our opinion the best surgical method is the combined approach (endoaural with aticotomy view and posterior timpanotomy) for increased promontory view. This technique provides the advantage that it always preserve the posterior wall of the external ear canal, and the array is positioned easily

[Non Hodgkin's lymphoma in the ENT field]. / Linfomas no Hodgkin en patología cérvico-facial.

OBJECTIVES: Non Hodgkin's lymphoma (NHL) is a frecuent tumor in the ENT field althougt there are not too many publications with a large number of patients. PATIENTS AND METHODS: We have studied 300 patiens with NHL and analysed the head and neck affectation, the presence in Waldeyer's ring, the first symptoms and the stage of the disease. RESULTS: Over 50% had head and neck manifestation. Of them, the most frequent one were adenopathies. In the Waldeyer's ring, the tonsil was the most frecuently affected structure. CONCLUSION: There is an evident relationship between NHL and the Oto-Rhino-laringology area and it is necessary consider it in the differential diagnosis of head and neck adenopathies.

Linfomas no Hodgkin en patología cérvico-facial / Non Hodgkin’s lymphoma in the ENT field

Objetivo: El linfoma no Hodgkin (LNH) es una tumoración frecuente que afecta con asiduidad al área ORL aunque no existen muchos trabajos con series grandes sobre el tema. Pacientes y metodología: Hemos estudiado 300 pacientes con LNH y hemos analizado su afectación cérvicofacial, del anillo de Waldeyer, sus síntomas de aparición y el estadio de la enfermedad. Resultados: Más del 50% tenían afectación cérvico-facial. De ellos, la manifestación clínica más frecuente era la presencia de adenopatías. Dentro de la afectación del anillo de Waldeyer, lo más frecuente es la afectación de la amígdala palatina. La mayoría de los paciente se encontraba en un estadio IV de su enfermedad. Conclusiones: Existe una relación clara entre el LNH y el área ORL por lo que es necesario tenerlo en cuenta en la aparición de adenopatías cérvico-faciales

Objetives: Non Hodgkin´s lymphoma (NHL) is a frecuent tumor in the ENT field althougt there are not too many publications with a large number of patiens. Patients and methods: We have studied 300 patiens with NHL and analysed the head and neck affectation, the presence in Waldeyer ´s ring, the first symptoms and the stage of the disease. Results: Over 50% had head and neck manifestation. Of them, the most frequent one were adenopathies. In the Waldeyer ´s ring, the tonsil was the most frecuently affected structure. Conclusion: There is an evident relationship between NHL and the Oto-Rhino-laringology area and it is necessary consider it in the differential diagnosis of head and neck adenopathies

[Idiopathic Frey's syndrome under the appearance of a recurrent otitis externa]. / Síndrome de Frey idiopático bajo la apariciencia de una otitis externa recidivante. Tratamiento con neuro-toxina botulínica tipo A.

Frey syndrome has been observed especially in patients who have undergone a parotidectomy operation, but also in zoster herpes, in parotiditis, condilea fractures, obstetric traumatisms with forceps and in surgery of the meningioma of the cerebellopontine angle. It also appears without previous surgery, like in our case. In these circumstances it is believed that a clinical neuritis, primary or secondary to a neighbouring inflammation may cause the start of this disorder. Several treatments have been suggested which highlights the difficulty of them. The most effective one is the intradermic injection of botulinum toxin type A. Its use in Frey's syndrome was initiated by Drobik and Laskawi in 1995. Since then the references to its use are numerous. Nevertheless, it is a treatment which has been introduced very few times in our country.

Síndrome de Frey idiopático bajo la apariciencia de una otitis externa recidivante. Tratamiento con neuro-toxina botulínica tipo A / Idiopathic Frey’s Syndrome under the appearance of a recurrent otitis externa

El síndrome de Frey se ha observado sobre todo en pacientes sometidos a parotidectomía, pero también en el herpes zoster trigeminal, en las parotiditis, en las fracturas condíleas, en los traumatismos obstétricos con forceps y en la cirugía del meningioma del ángulo ponto-cerebeloso. También aparece sin cirugía previa, como es nuestro caso. En estas circunstancias se piensa que una neuritis subclínica, primaria o secundaria a una inflamación vecina, puede causar el inicio de este trastorno. Se han propuesto varios tratamientos, lo cual pone de manifiesto la dificultad del mismo. El más eficaz es la inyección de toxina botulínica tipo A intradérmica. Su manejo en el síndrome de Frey lo iniciaron Drobik y Laskawi en 1995. Desde entonces son numerosas las referencias sobre su manejo. Sin embargo, es un tratamiento aún poco difundido en nuestro país

Frey syndrome has been observed especially in patients who have undergone a parotidectomy operation, but also in zoster herpes, in parotiditis, condilea fractures, obstetric traumatisms with forceps and in surgery of the meningioma of the cerebellopontine angle. It also appears without previous surgery, like in our case. In these circumstances it is believed that a clinical neuritis, primary or secondary to a neighbouring inflammation may cause the start of this disorder. Several treatments have been suggested which highlights the difficulty of them. The most effective one is the intradermic injection of botulinum toxin type A. It’s use in Frey’s syndrome was initiated by Drobik and Laskawi in 1995. Since then the references to its use are numerous. Nevertheless, it is a treatment which has been introduced very few times in our country