Nocardia Farcinica Mastoiditis and Epidural Abscess in an Immunocompetent Patient : A Rare Entity

Nocardia is regarded as an opportunistic pathogen primarily affecting the respiratory system, whereas Nocardia farcinica is the species of the Nocardia family that is most frequently blamed for central nervous system impairment. The authors present the first case of mastoiditis caused by Nocardia farcinica, accompanied by intracranial complications. An immunocompetent 74-year-old woman who reported a three-week left ear discharge and a two-week facial nerve palsy was referred to our department. MRI revealed mastoiditis and epidural abscess. The bacterial cultures obtained during the surgical management of the patient confirmed the presence of Nocardia farcinica. Targeted antibiotic therapy was subsequently administrated, gradually resulting in favourable outcomes. Nocardia species provoke a disseminated infection that emerges not only among the immunosuppressed individuals but can also affect the healthy population. The nonspecific clinical manifestations in addition to the difficulties identifying the pathogen, remain obstacles to a punctual diagnosis. However, the combination of surgical debridement and antibiotic treatment with trimethoprim and sulfamethoxazole is considered the most appropriate management, leading to propitious results.publishedVersionPeer reviewe

Tutkijan tukipalvelut tehokkaaseen käyttöön

Korva-, nenä- ja kurkkutautien ja foniatrian väitöstutkijat ja vastikään väitelleet lääketieteen tohtorit kokevat hyötyvänsä erityisesti biostatistikon, kielentarkastajan, tutkimushoitajan ja informaatikon palveluista. Niistä pitäisi tiedottaa nykyistä paremmin

Tutkijan tukipalvelut tehokkaaseen käyttöön

Korva-, nenä- ja kurkkutautien ja foniatrian väitöstutkijat ja vastikään väitelleet lääketieteen tohtorit kokevat hyötyvänsä erityisesti biostatistikon, kielentarkastajan, tutkimushoitajan ja informaatikon palveluista. Niistä pitäisi tiedottaa nykyistä paremmin.</p

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss

FinnGen provides genetic insights from a well-phenotyped isolated population

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10–11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.publishedVersionPeer reviewe

The enlargement of the maxillary ostium after balloon sinuplasty evaluated by a novel measuring technique from 3D CBCT images

Our aim was to evaluate the effects of balloon sinuplasty on the size of the ostium in the maxillary sinuses in patients with chronic rhinosinusitis from cone beam computer tomography (CBCT) scans of the sinus. This is a blinded retrospective trial in patients who had undergone balloon sinuplasty of the maxillary sinus. CBCT scans were taken and SNOT-22 Quality of Life questionnaire completed before and 12 months after the operation. The size of the maxillary ostium was measured from the CBCT scans three-dimensionally. The association of changes in the SNOT-22 scores of the ostium was analysed. We discovered that the balloon sinuplasty increased the size of the maxillary ostium in all dimensions. The changes were statistically significant (p<0.05) in the axial diameter and the ostium area. The number of patent ostia increased after the intervention. The association between SNOT-22 score and ostium patency were statistically significant before the operation. Our conclusion is that the threedimensional measuring technique provides a reliable method to evaluate ostium dimensions. Balloon sinuplasty increased the size of the maxillary ostium and the result was maintained for 12 months after the operation.publishedVersionPeer reviewe

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss.publishedVersionPeer reviewe

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss

FinnGen provides genetic insights from a well-phenotyped isolated population.

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10-11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants