Tarsal tunnel syndrome

Sindrom tarzalnog tunela (STT) relativno je rijetka kompresivna mononeuropatija donjih ekstremiteta uzrokovana kompresijom tibijalnog živca ili njegovih ogranaka (medijalnog ili lateralnog plantarnog živca) u području tarzalnog kanala. Pripada skupini kanalikularnih sindroma, a iako puno rjeđi, može se smatrati ekvivalentnim sindromu karpalnog tunela. Klinički se očituje pojavom boli, poglavito u medijalnom dijelu tabana te žarenjem i trncima u području prva tri prsta stopala. Uz kliničku procjenu, za dijagnosticiranje ove neuropatije najčešće se koriste elektrodijagnostičke pretrage – elektroneurografija (ENG) i elektromiografija (EMG), te ultrazvučna pretraga. Liječenje STT-a može biti konzervativno i kirurško. Konzervativno liječenje preporučuje se bolesnicima s lakšim do umjerenim tegobama, dok se kirurško liječenje provodi u bolesnika s težim oštećenjima. Cilj je ovog preglednog rada prikazati novije spoznaje vezane za STT s naglaskom na potvrdu kliničke dijagnoze najčešće korištenim dijagnostičkim pretragama kao što su elektroneurografija (ENG) i elektromiografija (EMG) te ultrazvučni pregled.Tarsal tunnel syndrome (TTS) is relatively rare compressive mononeuropathy of lower extremities caused by compression of tibial nerve and its associated branches (medial and lateral plantar nerve) in tarsal tunnel. It is one of canalicular sindromes, although much less common, and is equivalent of carpal tunnel syndrome. Clinically it is presented with pain in medial foot aspect, numbness and parestesia in the first three toes. Beside clinical assessement, diagnosis of this neuropathy is made by the use of electrodiagnostic procedures of neurography (ENG) and electromiography (EMG) and diagnostic ultrasound imaging. The management of tarsal tunnel syndrome can be conservative or operative. Patients with light to moderate simptoms are treated conservatively while those with severe damage undergo operative treatment. The aim of this systematic narrative review is to scrutinize the literature to date of TTS with emphasis on clinical diagnosis validation via neurography (ENG) and electromiography (EMG), and diagnostic ultrasound

Smjernice za dijagnostiku i liječenje bolesnika s vratoboljom – 1. dio

Vratobolja je jedna od najčešćih mišićnokoštanih bolesti koja rezultira značajnom boli i nesposobnosti te ima velik utjecaj na individualnoj razini, kao i na zdravstveni sustav i društvo u cjelini. Uzroci vratobolje su različiti, a etiološki prevladavaju oni mehanički povezani s degenerativnim promjenama vratne kralješnice. Svjedočimo raznim dijagnostičkim i terapijskim pristupima za ove bolesnike. Hrvatsko vertebrološko društvo Hrvatskoga liječničkog zbora predstavlja sveobuhvatni narativni pregled i smjernice za dijagnozu i liječenje bolesnika s vratoboljom, s naglaskom na najčešće uzroke. Smjernice su rezultat konsenzusa stručnjaka različitih specijalnosti, a temelje se na najboljim dokazima. Ovaj prvi dio odnosi se na dijagnostiku, a drugi njemu komplementarni dio odnosi se na terapiju. Dijagnostički dio smjernica (1. dio) obuhvaća: klinička obilježja i evaluaciju (uključivo strukturirane upitnike), laboratorijsku dijagnostiku, slikovne metode, neurofiziološko testiranje i minimalno invazivne dijagnostičke postupke. Dio smjernica o liječenju (2. dio) uključuje: farmakološko liječenje, tjelesne medicinske vježbe, trakciju, manualnu terapiju, metode fizikalne terapije, primjenu ortoza, minimalno invazivne terapijske intervencije, kirurško liječenje, rehabilitaciju nakon kirurških zahvata i psihijatrijski pristup. Ovo su prve hrvatske smjernice za vratobolju primarno namijenjene liječničkoj profesionalnoj zajednici

Unveiling the fate of adhering bacteria to antimicrobial surfaces: expression of resistance-associated genes and macrophage-mediated phagocytosis

Since most antibacterial coatings reported to fight biomaterial-associated infections (BAI) fail in completely preventing bacterial colonization, it is crucial to know the impact of that small fraction of adhered bacteria in BAI recrudescence. This study aims to understand the fate of Staphylococcus aureus able to adhere to an antimicrobial coating previously developed, in terms of potential development of bacterial resistance and their macrophage-mediated phagocytosis. Antimicrobial coating comprised the co-immobilization of Palm peptide and DNase I onto polydimethylsiloxane. Expression of genes associated to resistance and virulence mechanisms showed that cells in contact with antimicrobial surfaces for a long period of 30 days, exhibit genes equally or less expressed, as compared to cells recovered from control surfaces. Recovered cells also exhibit the same susceptibility patterns, which strengthens the evidence of no resistance development. Remarkably, cells adhered to modified surfaces shows a reduced metabolic activity upon vancomycin treatment unlike the cells found on control surfaces, which can be identified as a clinical opportunity for prophylactically administration after implant surgery. Furthermore, results highlight that functionalization of PDMS with Palm and DNase I should not compromise the action of host immune cells. The overall results reinforce the potential of this antimicrobial strategy to fight BAI.This study was supported by the Portuguese Foundation for Science and Technology (FCT) under the scope of the strategic funding of UID/BIO/04469/2013 unit and COMPETE 2020 (POCI01-0145-FEDER-006684) and BioTecNorte operation (NORTE-01 0145-FEDER-000004) funded by the European Regional Development Fund under the scope of Norte2020 – Programa Operacional Regional do Norte. The authors also acknowledge the support by FCT and the European Community fund FEDER, through Program COMPETE, under the scope of the Project AntiPep PTDC/SAUSAP/113196/2009 (FCOMP-01-0124-FEDER-016012) and the PhD Grant of Diana Alves (SFRH/BD/78063/2011) and Andreia Magalhães (SFRH/BD/132165/2017). A special thanks to Doctor Agostinho Carvalho and Doctor Cristina Amorim from Life and Health Sciences Research Institute (ICVS), University of Minho for kindly providing the monocyte cell line used in this study. Doctor Nuno Cerca, from CEB, Centre of Biological Engineering, University of Minho, is also acknowledged for his important contribution on the interpretation of gene expression results.info:eu-repo/semantics/publishedVersio

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (OR=1.11, P=5.7×10−15), which persisted after excluding loci implicated in previous studies (OR=1.07, P=1.7 ×10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 ×10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P= 7.3 ×10−5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by non-allelic homologous recombination

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

It is well known that inbreeding increases the risk of recessive monogenic diseases, but it is less certain whether it contributes to the etiology of complex diseases such as schizophrenia. One way to estimate the effects of inbreeding is to examine the association between disease diagnosis and genome-wide autozygosity estimated using runs of homozygosity (ROH) in genome-wide single nucleotide polymorphism arrays. Using data for schizophrenia from the Psychiatric Genomics Consortium (n = 21,868), Keller et al. (2012) estimated that the odds of developing schizophrenia increased by approximately 17% for every additional percent of the genome that is autozygous (β = 16.1, CI(β) = [6.93, 25.7], Z = 3.44, p = 0.0006). Here we describe replication results from 22 independent schizophrenia case-control datasets from the Psychiatric Genomics Consortium (n = 39,830). Using the same ROH calling thresholds and procedures as Keller et al. (2012), we were unable to replicate the significant association between ROH burden and schizophrenia in the independent PGC phase II data, although the effect was in the predicted direction, and the combined (original + replication) dataset yielded an attenuated but significant relationship between Froh and schizophrenia (β = 4.86,CI(β) = [0.90,8.83],Z = 2.40,p = 0.02). Since Keller et al. (2012), several studies reported inconsistent association of ROH burden with complex traits, particularly in case-control data. These conflicting results might suggest that the effects of autozygosity are confounded by various factors, such as socioeconomic status, education, urbanicity, and religiosity, which may be associated with both real inbreeding and the outcome measures of interest

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression

Age at first birth in women is genetically associated with increased risk of schizophrenia

Prof. Paunio on PGC:n jäsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

A. Palotie on työryhmän Schizophrenia Working Grp Psychiat jäsen.We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P = 1 x 10(-4)) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P = 8.4 x 10(-7)). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.Peer reviewe

Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic