Hypoacusia in a Patient Treated by Isotretinoin

Isotretinoin is the most effective treatment for severe acne, but there are several adverse effects associated with its use, some of them very exceptional (<1/10000). We report one case of hypoacusia and tinnitus in a 15-year-old boy treated with isotretinoin during 6 weeks, who quickly improved after isotretinoin withdrawal. Also, we comment other publications about hearing alterations in patients treated with isotretinoin and other retinoids

Relación del Espacio Disponible con la posible Erupción del Tercer Molar Inferior

El presente trabajo fue llevado cabo en el ámbito de la Facultad de Odontología de la Universidad Nacional del Nordeste, con el propósito de determinar el espacio disponible en la región del tercer molar inferior retenido para evaluar su posibilidad de erupción.A través de un estudio descriptivo, realizado con una muestra de 30 pacientes entre 16 y 30 años, de ambos sexos, con terceros molares retenidos. Previo consentimiento del paciente se realizó el trabajo por medio de la toma de telerradiografías y se midió el espacio, a través de calcos cefalométricos para observar la disponibilidad de espacio para la erupción teniendo en cuenta la Técnica de Olive y Basford, dichas mediciones se realizaron con compás de punta seca, para luego ser transportada a una regla milimetrada, y así obtener datos acerca del espacio disponible en mm.De los 30 pacientes, el 20% presentó espacio disponible para una posible erupción. Hasta el momento, el escaso espacio disponible observado para la erupción indicaría que existe mínima posibilidad de erupción

Nomenclature for renal replacement therapy and blood purification techniques in critically ill patients: practical applications

This article reports the conclusions of the second part of a consensus expert conference on the nomenclature of renal replacement therapy (RRT) techniques currently utilized to manage acute kidney injury and other organ dysfunction syndromes in critically ill patients. A multidisciplinary approach was taken to achieve harmonization of definitions, components, techniques, and operations of the extracorporeal therapies. The article describes the RRT techniques in detail with the relevant technology, procedures, and phases of treatment and key aspects of volume management/fluid balance in critically ill patients. In addition, the article describes recent developments in other extracorporeal therapies, including therapeutic plasma exchange, multiple organ support therapy, liver support, lung support, and blood purification in sepsis. This is a consensus report on nomenclature harmonization in extracorporeal blood purification therapies, such as hemofiltration, plasma exchange, multiple organ support therapies, and blood purification in sepsis

Fibroma osificante periférico. Reporte de un caso y revision de la literatura

En la mucosa bucal con relativa frecuencia se observan hiperplasias como el Fibroma Osificante Periférico (FOP), el cual es una lesión reactiva inflamatoria, que puede estar asociada a la presencia de traumatismos e irritantes crónicos a nivel gingival y a su vez, diversos autores en la actualidad lo asocian con un estadio maduro del Granuloma Telangiectásico. El objetivo del presente estudio, es aportar información actualizada acerca de esta patología y describir el caso clínico de una paciente de 68 años de edad, que acudió al servicio del Hospital Odontológico de la Facultad de Odontología de la Universidad Nacional del Nordeste, por presentar un abultamiento asintomático de un año aproximado de evolución, en el fondo de surco vestíbular del sector anteroinferior, el tratamiento de elección fue biopsia por escisión y eliminación de los factores desencadenantes, para de esta forma disminuir la posibilidad de recidiva

Reseñas

Iotsald von Saint-Claude, Vita des Abtes Odilo von Cluny, ed. JOHANNES STAUB. JOHANNES STAUB, Studien zu Iotsalds Vita des Abtes Odilo von Cluny. ANDRÉ JOAO MARIA, Sentido, simbolismo e interpretacao no discurso filosófico de Nicolau de Cusa. WOFGANG D. FRITZ / WOFGANG EGGERT (ed), Monumenta Germaniae Historica. Constitutiones et acta publica imperatorum et regum tomi XI. Fasciculus VIII: Dokumente zur Geschichte des deutschen Reiches und seiner Verfassung 1354-1356. THOMAS FRENZ / PETER HERDE (ed), Das Brief- und Memorialbuch des Albert Behaim. ROMAN DEUTINGER / RAHEWIN VON FREISING, ein Gelehrter des 12. Jahrhunderts. UWE LUDWIG, Transalpine Beziehungen der Karolingerzeit im Spiegel der Memorialüberlieferung. Prosopographische und sozialgeschchtliche Studien unter besonderer Berücksichtigung des “Liber vitae” von San Salvatore in Brescia und des Evangeliars von Cividale. VALENTÍN CRICCO, Semiótica Agustiniana. El diálogo ‘El Maestro’ de san Agustín. VICTORIA CIRLOT / BLANCA GARÍ, La mirada interior. Escritoras místicas y visionarias en la Edad Media. IGNACIO ANGELELLI / PALOMA PÉREZ-ILZARBE (ed), Medieval and renaissance logic in Spain: acts of the 12th&nbsp;European Symposium on Medieval Logic and Semantics, held at the University of Navarre

The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease

Background\ud In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.\ud \ud Methods\ud We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings.\ud \ud Results\ud Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).\ud \ud Conclusions\ud Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P<0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P<5 × 10-6 were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P=2.6 × 10 -7 in discovery and OR=1.43, P=0.004 in Fundació ACE data set; combined OR=1.53, P=4.7 × 10 -9). This ATP5H/KCTD2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation

Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene

To follow-up loci discovered by the International Genomics of Alzheimer's Disease Project, we attempted independent replication of 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundació ACE data set; 1808 patients and 2564 controls). Our results corroborate association with four SNPs located in the genes INPP5D, MEF2C, ZCWPW1 and FERMT2, respectively. Of these, ZCWPW1 was the only SNP to withstand correction for multiple testing (P=0.000655). Furthermore, we identify TRIP4 (rs74615166) as a novel genome-wide significant locus for Alzheimer's disease risk (odds ratio=1.31; confidence interval 95% (1.19-1.44); P=9.74 × 10 - 9)

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

INTRODUCTION: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. METHODS: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. RESULTS: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. DISCUSSION: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series