[Development of animal experimental model for bacterial peritonitis]. / Desarrollo de modelo experimental animal de peritonitis bacteriana.

OBJECTIVE: The aim of the study was to develop a model of abdominal sepsis in the experimental animal. METHODS: Sprague-Dawley male rats of 5 weeks (N=39) were used. Initially, a pilot study (N = 9) was performed and distributed in 3 groups with 1cc inoculum of Escherichia coli ATCC 25922 intraperitoneally at concentrations of 10E8, 10E9 and 10E10 CFU. Subsequently, concentrations of 10E10 CFU are used in two groups of 3 rats with dilutions of 10 cc and 15 cc of distilled water respectively. Finally, a randomized trial of 24 rats was started in three treatment groups after intraperitoneal infection: Group I with physiological serum (N = 6), Group II with ceftriaxone (N = 9), Group III with ceftriaxone plus allicin (N = 9). Microbiological samples of blood and peritoneal fluid were made, as well as histopathological study of intraperitoneal organs (liver, diaphragm and peritoneum). RESULTS: Death of 100% of the rats infected with 10E10 E. coli UFC concentration with the dilution of 15 ml of distilled water and without antibiotic was oberved. The blood culture and peritoneal fluid culture was positive for the same strain in all of them. The formation of abscesses on the liver surface and polymorphonuclear infiltration in tissues were observed. CONCLUSIONS: The lethal dose of E. coli is 10E10 CFU diluted in 15 cc distilled water by intraperitoneal injection.

Chemoselective and stereoselective lithium carbenoid mediated cyclopropanation of acyclic allylic alcohols.

The reaction of geraniol with different lithium carbenoids generated from n-BuLi and the corresponding dihaloalkane has been evaluated. The reaction occurs in a chemo and stereoselective manner, which is consistent with a directing effect from the oxygen of the allylic moiety. Furthermore, a set of polyenes containing allylic hydroxyl or ether groups were chemoselectively and stereoselectively converted into the corresponding gem-dimethylcyclopropanes in one single step in moderate to good yields mediated by a lithium carbenoid generated in situ by the reaction of n-BuLi and 2,2-dibromopropane.

Titanium carbenoid-mediated cyclopropanation of allylic alcohols: selectivity and mechanism.

A new method for the chemo- and stereoselective conversion of allylic alcohols into the corresponding cyclopropane derivatives has been developed. The cyclopropanation reaction was carried out with an unprecedented titanium carbenoid generated in situ from Nugent's reagent, manganese and methylene diiodide. The reaction involving the participation of an allylic hydroxyl group, proceeded with conservation of the alkene geometry and in a high diastereomeric excess. The scope, limitations and mechanism of this metal-catalysed reaction are discussed.

The synthesis of 3-hydroxy-2,4,8-trimethyldec-8-enolides and an approach to 3,4-dihydroxy-2,4,6,8-tetramethyldec-8-enolide.

The synthesis of several derivatives of 3-hydroxy-2,4,8-trimethyldec-8-enolide and attempts at the synthesis of 3,4-dihydroxy-2,4,6,8-tetramethyldec-8-enolide (1), a structure which has been assigned to a metabolite of the phytopathogenic fungus, Botrytis cinerea, gave products whose spectroscopic data had significant differences from those reported for the natural product 1. The rare 11-membered lactone rings were constructed by ring-closing metathesis reactions. The increase in conformational restrictions imposed by the substituents has a high influence on the stereochemistry of the ring-closing metathesis reaction and gives rise to a decrease in the yield for the synthesis of 11-membered lactones. The predominant alkene which was obtained was the (Z)-isomer. The observed spectroscopic differences between the synthesized lactones and the natural product and the spectroscopic data of its acetylated derivative 26a allowed us to revise the structure 1 to that of the γ-butyrolactone 26.

[New drugs in the treatment of chronic hepatitis C]. / Nuevos fármacos en el abordaje terapéutico de la hepatitis C.

OBJECTIVES: To analyze the efficacy and safety of the new direct antiviral agents (DAA) that will become the new therapeutic arsenal for the treatment of hepatitis C. METHODS: We carried out a research in the electronic database with the following criteria: phase II and III clinical trials (CT) published until February 2014. The Mesh term used was "chronic hepatitis C" and "therapy".Studies with boceprevir or telaprevir were excluded. For the analysis of efficacy, we evaluated the rate of Sustained Viral Response(SVR), and for the safety, side effects and safety-related discontinuations were analyzed. RESULTS: We included 24 CT that include associations with ribavirine(RBV) with or without peginterferon (PegINF) and associations of several DAA. The results associated of daclatasvir with PegINF and RBV have not been very successful. On the contrary, sofosbuvir presents activity in all viral genotypes . Sofosbuvir may be administered in free PegINF regimens. Around 90% of naïve patients achieve sustained virological response (RVS) and 80% in previously treated. In relation to second wave of NS3/4A protease inhibitors, simeprevir has achieved RVS in 90% of naïve patients and close to 80% in previously treated.The main combination of DAA were sofosbuvir and daclatasvir and sofosbuvir and ledipasvir. Both have achieved SVR in 100% of patients who previously had virological failure after receiving a protease inhibitor regimen with boceprevir or telaprevir. CONCLUSIONS: The new generation of AAD for the treatment of hepatitis C will lead to higher response rates in all subtypes of patients with lower complexity regimens and better tolerated.

Objetivos: Analizar la eficacia y seguridad de los nuevos agentesantivirales directos (AAD) que formaran parte del arsenal terapéuticopara el tratamiento de la hepatitis C.Método: Se realizó una búsqueda en la base de datos electrónicaPubMed, de artículos publicados Febrero de 2014 quecumplieran los siguientes criterios: ensayos clínicos (EC) en faseII o III y cuyos objetivos fueran evaluar la eficacia y seguridad denuevas generaciones de inhibidores de la proteasa (IP) frente alVHC, excluyendo con boceprevir y telaprevir.Resultados: Se incluyeron de 24 EC que incluyen asociacionesde AAD con ribavirina (RBV) y con o sin peginterferon (PegINF)y asociaciones de varios AAD. Los resultados de daclatasvircon PegINF y RBV no han sido muy satisfactorios. Por el contrario,sofosbuvir es activo en todos los genotipos virales y permiteser administrado en regímenes libres de PegINF. Alrededordel 90% de los pacientes naïve alcanzan respuesta viralsostenida (RVS) , y no llegan al 80% en pretratados. En cuantoa la segunda generación de IP NS3/4A, destacar a simeprevir,con respuestas próximas al 90% en pacientes naïve y cercanasal 80% en pretratados. Entre las combinaciones de AAD evaluadas,sofosbuvir y daclatasvir y sofosbuvir y ledipasvir alcanzanel 100% de respuesta en no respondedores a triple terapiacon boceprevir y telaprevir.Conclusiones: Las nuevas generaciones de AAD frente al VHCvan a suponer un aumento de las tasas de curación en todoslos subtipos de pacientes, a través de regímenes más sencillosy mejor tolerados.

Exploring mutasynthesis to increase structural diversity in the synthesis of highly oxygenated polyketide lactones.

The enantioselective synthesis of (2R,3R,4E,8E)-3-hydroxy-2,4,8-trimethyldeca-4,8-dienolide (5) by ring-closing metathesis is described. This compound is an analogue of 3,4-dihydroxy-2,4,6,8-tetramethyldec-8-enolide (4) which is a rare 11-membered lactone produced by the fungus, Botrytis cinerea. Mutasynthetic studies with compound 5 using two mutants of B. cinerea led to the isolation of four new highly oxygenated 11-membered lactones (11-14) in which compound 5 has been stereoselectively epoxidized and hydroxylated at sites that were not easily accessible by classical synthetic chemistry.

Nuevos fármacos en el abordaje terapéutico de la hepatitis C / New drugs in the treatment of chronic hepatitis C

Objetivos: Analizar la eficacia y seguridad de los nuevos agentes antivirales directos (AAD) que formaran parte del arsenal terapéutico para el tratamiento de la hepatitis C. Método: Se realizó una búsqueda en la base de datos electrónica PubMed, de artículos publicados Febrero de 2014 que cumplieran los siguientes criterios: ensayos clínicos (EC) en faseII o III y cuyos objetivos fueran evaluar la eficacia y seguridad de nuevas generaciones de inhibidores de la proteasa (IP) frente al VHC, excluyendo con boceprevir y telaprevir. Resultados: Se incluyeron de 24 EC que incluyen asociaciones de AAD con ribavirina (RBV) y con o sin peginterferon (PegINF)y asociaciones de varios AAD. Los resultados de daclatasvir con PegINF y RBV no han sido muy satisfactorios. Por el contrario, sofosbuvir es activo en todos los genotipos virales y permite ser administrado en regímenes libres de PegINF. Alrededor del 90% de los pacientes naïve alcanzan respuesta viralsostenida (RVS) , y no llegan al 80% en pretratados. En cuanto a la segunda generación de IP NS3/4A, destacar a simeprevir, con respuestas próximas al 90% en pacientes naïve y cercanas al 80% en pretratados. Entre las combinaciones de AAD evaluadas, sofosbuvir y daclatasvir y sofosbuvir y ledipasvir alcanzan el 100% de respuesta en no respondedores a triple terapia con boceprevir y telaprevir. Conclusiones: Las nuevas generaciones de AAD frente al VHC van a suponer un aumento de las tasas de curación en todos los subtipos de pacientes, a través de regímenes más sencillos y mejor tolerados (AU)

Objectives: To analyze the efficacy and safety of the new direct antiviral agents (DAA) that will become the new therapeutic arsenal for the treatment of hepatitis C. Methods: We carried out a research in the electronic database with the following criteria: phase II and III clinical trials (CT) published until February 2014. The Mesh term used was “chronic hepatitis C” and “therapy”. Studies with boceprevir or telaprevir were excluded. For the analysis of efficacy, we evaluated the rate of Sustained Viral Response(SVR), and for the safety, side effects and safety-related discontinuations were analyzed. Results: We included 24 CT that include associations with ribavirine(RBV) with or without peginterferon (PegINF) and associations of several DAA. The results associated of daclatasvir with PegINF and RBV have not been very successful. On the contrary, sofosbuvir presents activity in all viral genotypes . Sofosbuvir may be administered in free PegINF regimens. Around 90% of naïve patients achieve sustained virological response (RVS) and 80% in previously treated. In relation to second wave of NS3/4A protease inhibitors, simeprevir has achieved RVS in 90% of naïve patients and close to 80% in previously treated. The main combination of DAA were sofosbuvir and daclatasvir and sofosbuvir and ledipasvir. Both have achieved SVR in 100% of patients who previously had virological failure after receiving a protease inhibitor regimen with boceprevir or telaprevir. Conclusions: The new generation of AAD for the treatment of hepatitis C will lead to higher response rates in all subtypes of patients with lower complexity regimens and better tolerated (AU)

[Status of the structure, process and outcoms of pharmaceutical care to HIV patient in Spain. Origen study]. / Situación actual de la estructura, procesos y resultados de la Atención Farmacéutica al paciente VIH en España. Proyecto ORIGEN.

OBJECTIVES: To describe the structure, process and outcomes with which hospital pharmacist performs health care activity, teaching and research about Pharmaceutical Care (PC) in HIV patients in Spain. METHODS: Observational, cross-sectional and multicenter study carried out between November 2011-February 2012 in spanish hospitals. The inclusion criteria were: hospitals pharmacy services that dispensed antiretroviral medication to HIV patients. The questionnaire had 41 questions structured in 9 groups: hospital type and person conducting the survey, structure and resources, health care activities, interventions, communication with the rest of the multidisciplinary team, adherence, and quality records, management and pharmacoeconomy and teaching and research. Descriptive analysis was performed. To analyze the existence of statistically significant relationships, we applied fisher test, chi-square or logistic regression. RESULTS: 86 hospitals completed the survey. In 93%, PC consultation was not classified by pathologies. 27.9% provided continuing PC to all patients. Adherence was determined regularly or when pharmacist suspected poor adherence (57.5 %). 20% of hospital s teaching had a program that allowed a high level of training in PC to HIV patient. 52,3% of participating centers had published scientific articles related to HIV. CONCLUSIONS: Pharmaceutical care to HIV patients in Spain need to adapt to a new situation. For this, hospital pharmacists have to consider several issues such as chronicity, comorbidity, incorporation of new technologies and the stratification of patients in order to make it more efficient.

Objetivos: Describir la estructura, proceso y resultados con la que se lleva a cabo la actividad asistencial, docente e investigadora en torno a la Atención Farmacéutica (AF) al paciente VIH en los hospitales españoles. Material y métodos: Estudio observacional, transversal, pragmático y multicéntrico realizado entre Noviembre 2011-Febrero 2012. Participaron servicios de farmacia de hospitales españoles que dispensaran medicación antirretroviral para pacientes VIH. El cuestionario presentaba 41 preguntas estructuradas en 9 bloques: tipo de hospital y persona que realiza la encuesta, estructura y recursos disponibles, actividad asistencial, intervenciones, comunicación con el resto del equipo multidisciplinar, adherencia, registros y calidad, gestión y farmacoeconomía y docencia e investigación. Se realizó un análisis descriptivo y se aplicó la prueba de fisher, Chi cuadrado o regresión logística para analizar la existencia de relaciones estadísticamente significativas. Resultados: 86 hospitales cumplimentaron la encuesta. En el 93%, la consulta de AF era compartida con el resto de patologías. El 27,9% proporcionaba AF continuada a todos los pacientes. El 57,5% determinaban la adherencia periódicamente o en casos de sospecha de mala adhesión. El 20% de los hospitales docentes tenían un programa que permitía un alto nivel de formación en AF al paciente VIH. El 52,3% de los hospitales no habían publicado artículos científicos relacionados con el VIH. Conclusiones: La AF al paciente VIH+ en España debe adaptarse a un nuevo escenario donde se han de considerar aspectos como la cronicidad, la pluripatología, la incorporación de nuevas tecnologías y la necesidad de estratificación de los pacientes para hacerla más eficiente.

Actinomicosis primaria de pared abdominal simuladora de sarcoma de partes blandas / Primary abdominal wall actinomycosis sarcoma simulator

La actinomicosis es una patología poco frecuente y su manifestación en la pared abdominal es más infrecuente aún. Está causada por Actinomyces israeli, una bacteria filamentosa, anaerobia estricta, gram positiva, que es comensal en el organismo y que en su forma patógena produce fibrosis, tejido de granulación y abscesos. La forma más frecuente es la cérvico-facial. Presentamos un caso de actinomicosis de pared abdominal diagnosticado postoperatoriamente, con sospecha prequirúrgica de proceso tumoral, por lo que queremos hacer especial mención acerca de la importancia del diagnóstico diferencial de actinomicetoma ante la presencia de una masa abdominal (AU)

Actinomycosis is an uncommon disease, and abdominal wall actinomycosis is rare. It is caused by Actinomyces israeli, a filamentous, gram-positive, anaerobic bacteria that lives in our organism and when the infection progresses, granulomatous tissue, extensive reactive fibrosis and necrosis, abscesses are formed. Infection involving the cervicofacial area is most common. We report a case of abdominal wall actinomycosis diagnosed postoperativerly with preoperative suspected tumor process, so we want to make special mention in the differential diagnosis of actinomycetoma with an abdominal mass (AU)

[Bilateral pelvic stress fracture]. / Fractura bilateral de pelvis por estrés.

A stress fracture is defined as that which occurs as a consequence of many low intensity traumas. These were originally described in the metatarsals of soldiers, and later on in athletes, and now we should consider them in general population subjected to excessive stress. Statistically, it generally occurs in women and in weight-bearing bones, such as the tibia, fibula and metatarsals. This case is of interest due to the diagnosis a double fracture in a woman without risk factors or increase in physical activity, and in an unusual location such as the pelvis. A detailed clinical history and examination are essential for the diagnosis.

Perspectiva multidisplicinaria del apoyo a la adherencia antirretroviral en Andalucía. Estudio Andhalusida / Multidisciplinary perspective on support for antiretroviral therapy adherence in andalusia. andhalusida study

Objetivo: Analizar la perspectiva de médicos, farmacéuticos y enfermeros sobre la importancia de diferentes actividades de apoyo a la adherencia antirretroviral e identificar las dificultades que se encuentran para poder incorporar las recomendaciones establecidas. Método Estudio observacional, transversal y con componente analítico. A partir de las recomendaciones 2008 de GESIDASEFH-PNS sobre mejora de la adherencia se diseñaron 3 cuestionarios: «Medidas ideales» (MI), «Medidas reales» (MR) y «Problemas de apoyo a la adherencia» (CPA). Se determinó el índice alfa de Cronbach para analizar la fiabilidad de los cuestionarios, así como coeficientes de concordancia entre las escalas MI y MR. Se aplicaron las pruebas de chi cuadrado o Montecarlo para analizar la relación entre proveedores de salud y los ítems de los 3 cuestionarios. Resultados Participaron 58 profesionales sanitarios. El porcentaje de respuesta obtenido fue del 76,3%. El índice alfa de Cronbach para los cuestionarios MI, MR y CPA fueron 0,852, 0,933 y 0,818, respectivamente. El coeficiente de correlación intraclase obtenido fue 0,280. Se obtuvieron diferencias significativas en las comparaciones múltiples de los cuestionarios MI y MR entre médicos y farmacéuticos. En el estudio de relaciones también se encontraron diferencias significativas en una de las respuestas al cuestionario MI, 3 al MR y 5 al CPA, principalmente debidas a la falta de tiempo y de formación. Conclusiones Se encontraron diferencias en la perspectiva que los diferentes proveedores de la salud tienen sobre las medidas de apoyo a la adherencia, siendo la falta de tiempo y de formación las principales causas que justifican esta desigualdad (AU)

Objective: To analyse physicians’, pharmacists’ and nurses’ perspectives on the importance of different antiretroviral treatment adherence support activities and identify the main obstacles to meeting established recommendations which health professionals encounter. Method: Cross-sectional observational and analytical study. Three questionnaires were designed based on 2008 GESIDA/SEFH/PNS recommendations for improving treatment adherence: ‘‘ideal measures’’ (IM), ‘‘real measures’’ (RM) and ‘‘adherence support problems’’ (ASP).Cronbach’s Alpha index was determined to analyse questionnaire reliability and correlation coefficients between the MI and MR scales. We applied the Chi-square test or Monte Carlo method to analyse the correlation between health providers and items on the three questionnaires. Results: Participants consisted of 58 health professionals. The response rate was 76%. The Cronbach Alpha indices for the IM, RM and ASP questionnaires were 0.852, 0.933 and 0.818respectively. The resulting intraclass correlation coefficient was 0.280. Significant differences were found for multiple comparisons of IM and RM questionnaires among physicians and pharmacists. The analysis of relationships between providers also found significant differences for one of the answers on the IM questionnaire, three on the RM and five on the ASP. Conclusions: We observed that several health professionals have different perspectives on measures of support for treatment adherence, with differences arising mainly due to lack of time and training

[Multidisciplinary perspective on support for antiretroviral therapy adherence in Andalusia. Andhalusida study]. / Perspectiva multidisplicinaria del apoyo a la adherencia antirretroviral en Andalucía. Estudio Andhalusida.

OBJECTIVE: To analyse physicians', pharmacists' and nurses' perspectives on the importance of different antiretroviral treatment adherence support activities and identify the main obstacles to meeting established recommendations which health professionals encounter. METHOD: Cross-sectional observational and analytical study. Three questionnaires were designed based on 2008 GESIDA/SEFH/PNS recommendations for improving treatment adherence: "ideal measures" (IM), "real measures" (RM) and "adherence support problems" (ASP). Cronbach's Alpha index was determined to analyse questionnaire reliability and correlation coefficients between the MI and MR scales. We applied the Chi-square test or Monte Carlo method to analyse the correlation between health providers and items on the three questionnaires. RESULTS: Participants consisted of 58 health professionals. The response rate was 76%. The Cronbach Alpha indices for the IM, RM and ASP questionnaires were 0.852, 0.933 and 0.818 respectively. The resulting intraclass correlation coefficient was 0.280. Significant differences were found for multiple comparisons of IM and RM questionnaires among physicians and pharmacists. The analysis of relationships between providers also found significant differences for one of the answers on the IM questionnaire, three on the RM and five on the ASP. CONCLUSIONS: We observed that several health professionals have different perspectives on measures of support for treatment adherence, with differences arising mainly due to lack of time and training.

Abordaje transconjuntival más transcaruncular: amplia exposición de la pared medial orbitaria. Una alternativa al abordaje coronal / Transconjunctival, transcaruncular approach: enlarged orbital medial wall exposure. An alternative to the coronal approach

Los pliegues nasolabiales prominentes son uno de los aspectosque más preocupan a los pacientes candidatos a un lifting facial, y han sidodescritas muchas técnicas que intentan atenuar este signo distintivo del envejecimiento.Las sustancias de relleno tienen limitaciones inherentes. Las diseccionesamplias del SMAS y su posterior suspensión no tienen efecto despuésde transcurridas 24 horas. La suspensión de la almohadilla grasa malar tieneun efecto que se extiende como máximo a los dos años de duración. La extirpacióndirecta de la grasa lateralmente al surco nasolabial, aunque debehacerse con mucha cautela, es la única técnica que proporciona resultadospermanentes. Técnicamente, esta resección grasa se ha descrito realizadavaliéndose de pinzas y tijeras, con cánulas de liposucción o con curetas. Esteprocedimiento requiere un control muy preciso, táctil y visual, de la localizacióny profundidad de la extirpación, control que puede mejorarse usandouna gubia ósea con una mano para extirpar la grasa a eliminar de ladermis, mientras la otra mano maneja el colgajo cutáneo de la mejilla, paraun control alternativo interno y externo del efecto escultural de la extirpacióny para permitir una guía táctil externa(AU)

Prominent nasolabial folds are of concern to many facelift candidates. Many techniques have been described which tacklethis distinct sign of ageing. Crease fillers have inherent limitations.Extended SMAS dissection and suspension has no effect after 24hours. Malar fat pad suspension has an effect which extendsmaximally to 2 years. Direct fat excision lateral to the crease mustbe done cautiously. However, it is the only technique providingpermanent results. Fat removal can be done with tweezers andscissors, with liposuction canules, and with curettes. Tactile andvisual control over location and depth of the resection is required.Such is possible when using a bone rongeur in one hand to reducethe fat mount which has been dissected off the dermis. The otherhand turns over the cheek flap for alternating internal and externalcontrol of the sculpturing effect, and for external tactile guidance(AU)

Primary duodenal follicular lymphoma successfully treated with rituximab.

Non-Hodgkin's lymphoma (NHL) of the gastrointestinal (GI) tract is the most common extranodal lymphoma, accounting for approximately 40% of all extranodal NHLs. Initial treatment of duodenal lymphoma includes surgery, chemotherapy and radiotherapy, alone or in combination. Here, we present a case of stage I primary duodenal follicular lymphoma (FL) showing a complete response after rituximab therapy. Rituximab alone can be an effective alternative treatment for duodenal FL.

Primary duodenal follicular lymphoma successfully treated with rituximab

Non-Hodgkin's lymphoma (NHL) of the gastrointestinal (GI) tract is the most common extranodal lymphoma, accounting for approximately 40% of all extranodal NHLs. Initial treatment of duodenal lymphoma includes surgery, chemotherapy and radiotherapy, alone or in combination. Here, we present a case of stage I primary duodenal follicular lymphoma (FL) showing a complete response after rituximab therapy. Rituximab alone can be an effective alternative treatment for duodenal FL (AU)

Phase response curves in the characterization of epileptiform activity.

Coordinated cellular activity is a major characteristic of nervous system function. Coupled oscillator theory offers unique avenues to address cellular coordination phenomena. In this study, we focus on the characterization of the dynamics of epileptiform activity, based on some seizures that manifest themselves with very periodic rhythmic activity, termed absence seizures. Our approach consists in obtaining experimentally the phase response curves (PRCs) in the neocortex and thalamus, and incorporating these PRCs into a model of coupled oscillators. Phase preferences of the stationary states and their stability are determined, and these results from the model are compared with the experimental recordings, and interpreted in physiological terms.

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, the 1494C-->T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL. In this study, sequencing of the 12S rRNA gene in a Spanish family with maternally inherited NSHL showed the presence of the 1494C-->T mutation. An additional screening of 1339 unrelated Spanish patients with NSHL allowed the authors to find two other families with the mutation. Audiological data were obtained from 17 confirmed 1494C-->T carriers, which showed that the hearing loss was sensorineural, bilateral and symmetrical, with a remarkable variability in age of onset and severity. Three carriers were asymptomatic. Three affected carriers had a history of treatment with aminoglycoside antibiotics. The mitochondrial genome of one affected person from each of these three families was entirely sequenced, and it was established that they belong to different mitochondrial haplogroups (H, U5b, U6a). The study results further support the pathogenic role of 1494C-->T on hearing, and show that this mutation can be found in different Caucasian mitochondrial DNA backgrounds.

[Utility of optic coherence tomography (OCT) in the follow-up of idiopathic intracranial hypertension in childhood]. / Utilidad del tomógrafo de coherencia óptica (OCT) en el seguimiento de la hipertensión intracraneal idiopática en la infancia.

PURPOSE: To show the utility of optic coherence tomography (OCT) in the follow up of the idiopathic intracranial hypertension (IIH) in childhood. METHODS: Three girls, aged between 4 and 11 years, were diagnosed and subsequently followed with the help of OCT for an episode of idiopathic intracranial hypertension. All of them had presented with non-specific symptoms such as visual disturbance, headache, stomach ache, and in one case diplopia and torticolis. Brain imaging studies were normal, however lumbar puncture found an elevated intracranial pressure. Visual fields were tested using Octopus automated perimetry and the optic nerve fiber layer (ONF) was measured by OCT at each of the attendances. RESULTS: The visual acuity was normal in all cases, but two girls had evidence of an abducens nerve palsy. Fundus biomicroscopy revealed marked papilledema. The thickness of the ONF was increased 2-3 times over normally expected levels. The follow up and the treatment with prednisone and azetazolamide was monitored by OCT, with a good outcome and return of the ONF levels to normal. In one case, however, a recurrence was detected after three months without treatment. CONCLUSION: IIH in childhood is an uncommon condition, often with a different presentation from what is seen in teenagers and adults. OCT is a useful technique helping in both the diagnosis and the follow-up of this disorder in children (Arch Soc Esp Oftalmol 2006; 81: 383-390).

Utilidad del tomógrafo de coherencia óptica (OCT) en el seguimiento de la hipertensión intracraneal idiopática en la infancia / Utility of optic coherence tomography (OCT) in the follow-up of idiopathic intracranial hypertension in childhood

Objetivo: Mostrar la utilidad de la tomografía decoherencia óptica (OCT) en el seguimiento de lahipertensión intracraneal idiopática (HII) en la edadpediátrica.Métodos: Se ha realizado el diagnóstico y posteriorseguimiento, del episodio agudo de HII en tresniñas con edades entre 4 y 11 años. Todas acudieroncon síntomas inespecíficos: Alteraciones visuales,cefalea, abdominalgia, visión doble y tortícolis.Los estudios de neuroimagen fueron normales. Trasla punción lumbar, la presión intracraneal estabaelevada. Se realizó campo visual (CV) medianteperímetro Octopus y medida de la capa de fibrasnerviosas (CFN) con OCT en todas las revisiones.Resultados: La agudeza visual fue normal en todasellas, con paresia de VI par en dos casos. El estudiode fondo de ojo reveló siempre un gran edema depapila. La medida inicial de la CFN con OCT sehalló elevada, duplicando o triplicando los valoresnormales. El seguimiento y tratamiento con prednisona y acetazolamida vía oral se realizó de acuerdoa las medidas del OCT. La evolución fue buena conprogresiva normalización de los valores de grosoren el OCT. Si bien en un caso, tras 3 meses sin tratamiento,se detectó mediante OCT una recurrenciaasintomática.Conclusiones: La HII en edad pediátrica es unaentidad poco frecuente y diferente de la afectacióntípica del adolescente y el adulto. El OCT es unatécnica objetiva y reproducible que puede ayudar acompletar el diagnóstico y, sobre todo, el posteriorseguimiento clínico y terapéutico de estos cuadrosen niños

Purpose: To show the utility of optic coherence ;;tomography (OCT) in the follow up of the idiopathic ;;intracranial hypertension (IIH) in childhood. ;;Methods: Three girls, aged between 4 and 11 ;;years, were diagnosed and subsequently followed ;;with the help of OCT for an episode of idiopathic ;;intracranial hypertension. All of them had presented ;;with non-specific symptoms such as visual disturbance, ;;headache, stomach ache, and in one case ;;diplopia and torticolis. Brain imaging studies were ;;normal, however lumbar puncture found an elevated ;;intracranial pressure. Visual fields were tested ;;using Octopus automated perimetry and the optic ;;nerve fiber layer (ONF) was measured by OCT at ;;each of the attendances. ;;Results: The visual acuity was normal in all cases, ;;but two girls had evidence of an abducens nerve ;;palsy. Fundus biomicroscopy revealed marked ;;papilledema. The thickness of the ONF was increased ;;2-3 times over normally expected levels. The follow up and the treatment with prednisone and azetazolamide ;;was monitored by OCT, with a good outcome ;;and return of the ONF levels to normal. In one ;;case, however, a recurrence was detected after three ;;months without treatment. ;;Conclusion: IIH in childhood is an uncommon ;;condition, often with a different presentation from ;;what is seen in teenagers and adults. OCT is a useful ;;technique helping in both the diagnosis and the ;;follow-up of this disorder in children