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Aim: Community-acquired pneumonia (CAP) is an infectious disease that causes the highest mortality rates in developed countries. The primary endpoint of this study was to evaluate the relationship between the plasma concentration of the amino-terminal fragment of pro-brain natriuretic peptide (NT-ProBNP) at the time of CAP diagnosis in a hospital emergency room (HER) and its severity, determined as mortality at 30 days. Materials and Methods: A prospective, observational cohort study was used to determine NT-ProBNP (ng/L) in patients with CAP, with a follow-up over 30 days and analysis of the mortality rate. Results: A total of 338 patients were assessed. Thirty patients died within the first 30 days (10.5%). The mean NT-ProBNP values in the deceased patients were 14,035 ng/L (SD: 19,271) compared to 1,711 ng/L (SD: 3,835) in survivors (p

Resumen Introduccion La mutacion A1555G del gen MTRNR1 del ADN mitocondrial es responsable de hipoacusia neurosensorial bilateral no sindromica que se ve exacerbada por la exposicion a aminoglucosidos. El objetivo de nuestro estudio fue determinar la frecuencia de esa mutacion en pacientes con hipoacusia neurosensorial, postlocutiva, sin antecedentes familiares de hipoacusia, ni exposicion a ototoxicos. Metodos Se realizo una estudio genetico para detectar la mutacion A1555G del ADN mitocondrial en los pacientes que consultaron por hipoacusia neurosensorial bilateral postlocutiva, de etiologia desconocida, en la consulta de ORL de un hospital comarcal durante 4 anos. Resultados Doscientos diecinueve pacientes fueron estudiados durante dicho periodo. Dos de ellos (0,9%) eran portadores de la mutacion A1555G del ADN mitocondrial en homoplasmia. Ambos tenian una hipoacusia neurosensorial, bilateral y simetrica, moderada para frecuencias medias y severa para altas frecuencias no relacionada con la exposicion a ototoxicos. Conclusiones La mutacion A1555G del gen MTDNR1 en pacientes con hipoacusia neurosensorial bilateral postlocutiva en ausencia de antecedentes familiares de hipoacusia por via materna o desencadenada por aminoglucosidos, es poco frecuente en nuestro medio. Se debe sospechar en aquellos con hipoacusia neurosensorial bilateral con predominio para altas frecuencias menores de 50 anos de edad.

The congenital absence off the major salivary glands is a very infrequent disorder, in which several glands are usually involved at the same time. Sometimes this disorder can be associated with other developmental anomalies. The unilateral aplasia of the submandibular gland is an extremely rare finding with only 14 cases reported in the literature. Clinically, this kind of patients may complain of dryness of the mouth, difficulties in chewing and swallowing, severe periodontal disease or multiple caries, but usually they follow an asymptomatic course. Salivary gland aplasia can be diagnosed with a large variety off imaging techniques, which include computer tomography (CT), magnetic resonance imaging (MRR), ultrasonography (UUS), sialography, or scintigraphy. In this paper we report a case off a patient referred to our department with a long term and progressive growing neck mass, who has an unilateral submandibular gland aplasia associated to an ipsilateral hypertrophy off the sublingual gland. © Medicina Oral S. L.

Introduction Drop attacks (DA) are a sudden fall that comes without warning and without loss of consciousness, with no associated neurological symptoms and normal neurological examination. A certain number of patients with Meniere's disease, develop Tumarkin's otolithic crisis or DA. The purpose of this study is to document the frequency and clinical features of DA in patients with Meniere's disease. Methods A cohort of 40 patients with "definitive" Meniere's Disease were followed up between six months and 12 years. The presence and characteristics of Tumarkin's otolithic crisis were recorded. Results Thirteen (32.5%) patients developed DA during the outcome of their Meniere's disease. The interval between the onset of typical symptoms of Meniere's disease and the DA ranged from less than one year to 18 years. The number of DA varied from 1 to 14. The attacks typically occurred in a flurry during a period of 1 year or less. Six patients had only one DA. No patient requiered treatment for the DA. Conclusions Tumarkin's otolithic crisis in Meniere's disease are not uncommon. They can occur at any time during the course of the disease, generally in a flurry of less than one year. Most patients have a spontaneus remission of the DA.

Introduction The A1555G mitochondrial DNA (mtDNA) mutation is responsible for maternally inherited non-syndromic hearing loss that is increased by aminoglycoside exposure. The objective of this study was to ascertain the frequency of the A1555G mutation among patients without family history of hearing loss or known exposition to aminoglycosides. Methods We screened for the mtDNA A1555G mutation in Spanish patients with sporadic sensorineural hearing impairment without a known family history of hearing loss or aminoglycoside exposition seen at the ENT Department in Sierrallana Hospital (Torrelavega, Cantabria, Spain) over a four-year period. Results A total of 219 patients with bilateral hearing loss were screened. Two of them (0.9%) had the A1555G mitochondrial DNA mutation. Both patients had a moderate bilateral sensorineural hearing loss for low frequency, and moderate to severe loss for high-frequency. Conclusions The mtDNA A1555G mutation in patients with sensorineural hearing loss without family history of deafness or aminoglycoside ototoxicity is infrequent in our region. We should suspect this mutation in patients younger than 50 years old, with postlingual bilateral sensorineural hearing loss that is more pronounced at high frequency.

Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a need for studies on genotype-phenotype correlations, to identify distinctive clinical features which may direct the molecular diagnosis to specific genes. Here we present a mutation analysis and a genotype-phenotype correlation study on the gene encoding otoferlin (OTOF), responsible for the DFNB9 subtype of prelingual hearing impairment. Four novel mutations were identified: c.2122CT (p.Arg708Ter), c.4275GA (p.Trp1425Ter), c.4362+2TG, and c.5860_5862delATC (p.Ile1954del). A total of 37 subjects with mutations in OTOF were studied clinically. They were phenotypically homogeneous, having profound hearing impairment with very early onset, as shown by pure-tone audiometry and auditory brainstem responses. Magnetic resonance imaging and computed tomography did not reveal any inner ear malformation. Unexpectedly, transient evoked otoacoustic emissions (TEOAEs) were present, either bilaterally or unilaterally in 11 subjects. Altogether, clinical data of these subjects met the diagnostic criteria of auditory neuropathy. A total of 10 subjects had been successfully provided with cochlear implants. The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first detection test for hearing impairment in newborns, since this technique may overlook a nonnegligible proportion of cases.

The A1555G mutation in the mitochondrial genome causes sensorineural hearing loss and familial aminoglycoside ototoxicity.Screening for the A1555G mutation was performed on 72 patients with nonsyndromic sensorineural hearing loss.The A1555G mutation was identified in 15 patients (20.8%). All of them presented maternal relatives with deafness. Individuals with the A1555G mutation that had been treated with aminoglycosides developed more severe hearing loss.The A1555G mutation should be screened in individuals with maternal relatives with hearing loss before administering aminoglycosides.