Browsing by Subject "FEATURES"

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  • Yun, J.; Han, T.; Bjorkman, S.; Nysten, M.; Hasan, S.; Valros, A.; Oliviero, C.; Kim, Y.; Peltoniemi, O. (2019)
    The present study aimed to identify the factors that affect immediate (within 24 h after farrowing onset) postnatal piglet mortality in litters with hyperprolific sows, and investigate their associations with behaviour of postpartum sows in two different farrowing housing systems. A total of 30 sows were housed in: (1) CRATE (n=15): the farrowing crate closed (0.80x2.20 m) within a pen (2.50x1.70 m), and (2) OPEN (n=15): the farrowing crate open (0.80x2.20x1.80 m) within a pen (2.50x2.40 m) with a provision of 20 ls of hay in a rack. A total of 518 live born piglets, produced from the 30 sows, were used for data analyses during the first 24 h after the onset of parturition (T24). Behavioural observations of the sows were assessed via video analyses during T24. Total and crushed piglet mortality rates were higher in OPEN compared with CRATE (P
  • Kiiski, Johanna I.; Tervasmäki, Anna; Pelttari, Liisa M.; Khan, Sofia; Mantere, Tuomo; Pylkäs, Katri; Mannermaa, Arto; Tengström, Maria; Kvist, Anders; Borg, Åke; Kosma, Veli-Matti; Kallioniemi, Anne; Schleutker, Johanna; Bützow, Ralf; Blomqvist, Carl; Aittomäki, Kristiina; Winqvist, Robert; Nevanlinna, Heli (2017)
    The FANCM c.5101C > T nonsense mutation was previously found to associate with breast cancer in the Finnish population, especially among triple-negative cases. Here, we studied the prevalence of three other FANCM variants: c.5791C > T, which has been reported to predispose to familial breast cancer, and the c.4025_4026delCT and c.5293dupA variants recently identified in Finnish cancer patients. We genotyped the FANCM c.5791C > T mutation in 4806 invasive breast cancer patients, including BRCA1/2 mutation negative familial cases and unselected cases, and in 2734 healthy population controls from four different geographical areas of Finland. The association of the mutation with breast cancer risk among patient subgroups was statistically evaluated. We further analyzed the combined risk associated with c.5101C > T and c.5791C > T mutations. We also genotyped 526 unselected ovarian cancer patients for the c.5791C > T mutation and 862 familial breast cancer patients for the c.4025_4026delCT and c.5293dupA variants. The frequency of the FANCM c.5791C > T mutation was higher among breast cancer cases than in controls (OR 1.94, 95% CI 0.87-4.32, P = 0.11), with a statistically significant association with triple-negative breast cancer (OR 5.14, 95% CI 1.65-16.0, P = 0.005). The combined analysis for c.5101C > T and c.5791C > T carriers confirmed a strong association with breast cancer (OR 1.86, 95% CI 1.32-2.49, P = 0.0002), especially among the triple-negative patients (OR 3.08, 95% CI 1.77-5.35, P = 0.00007). For the other variants, only one additional c.4025_4026delCT carrier and no c.5293dupA carriers were observed. These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer.
  • Kliuchko, Marina; Brattico, Elvira; Gold, Benjamin P.; Tervaniemi, Mari; Bogert, Brigitte; Toiviainen, Petri; Vuust, Peter (2019)
    Learning, attention and action play a crucial role in determining how stimulus predictions are formed, stored, and updated. Years-long experience with the specific repertoires of sounds of one or more musical styles is what characterizes professional musicians. Here we contrasted active experience with sounds, namely long-lasting motor practice, theoretical study and engaged listening to the acoustic features characterizing a musical style of choice in professional musicians with mainly passive experience of sounds in laypersons. We hypothesized that long-term active experience of sounds would influence the neural predictions of the stylistic features in professional musicians in a distinct way from the mainly passive experience of sounds in laypersons. Participants with different musical backgrounds were recruited: professional jazz and classical musicians, amateur musicians and non-musicians. They were presented with a musical multi-feature paradigm eliciting mismatch negativity (MMN), a prediction error signal to changes in six sound features for only 12 minutes of electroencephalography (EEG) and magnetoencephalography (MEG) recordings. We observed a generally larger MMN amplitudes-indicative of stronger automatic neural signals to violated priors-in jazz musicians (but not in classical musicians) as compared to non-musicians and amateurs. The specific MMN enhancements were found for spectral features (timbre, pitch, slide) and sound intensity. In participants who were not musicians, the higher preference for jazz music was associated with reduced MMN to pitch slide (a feature common in jazz music style). Our results suggest that long-lasting, active experience of a musical style is associated with accurate neural priors for the sound features of the preferred style, in contrast to passive listening.
  • Maki-Nevala, Satu; Sarhadi, Virinder Kaur; Ronty, Mikko; Kettunen, Eeva; Husgafvel-Pursiainen, Kirsti; Wolff, Henrik; Knuuttila, Aija; Knuutila, Sakari (2016)
    Objectives: Non-small cell lung cancer (NSCLC) is a common cancer with a poor prognosis. The aim of this study was to screen Finnish NSCLC tumor samples for common cancer-related mutations by targeted next generation sequencing and to determine their concurrences and associations with clinical features. Materials and methods: Sequencing libraries were prepared from DNA isolated from formalin-fixed, paraffin-embedded tumor material of 425 patients using the AmpliSeq Colon and Lung panel covering mutational hot spot regions of 22 cancer genes. Sequencing was performed with the Ion Torrent Personal Genome Machine (PGM). Results: Data analysis of the hot spot mutations revealed mutations in 77% of the patients, with 7% having 3 or more mutations reported in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Two of the most frequently mutated genes were TP53 (46%) and KRAS (25%). KRAS codon 12 mutations were the most recurrently occurring mutations. EGFR mutations were significantly associated with adenocarcinoma, female gender and never/light-smoking history; CTNNB1 mutations with light ex-smokers, PlIC3CA and TP53 mutations with squamous cell carcinoma, and KRAS with adenocarcinoma. TP53 mutations were most prevalent in current smokers and ERBB2, ERBB4, PIK3CA, NRAS, NOTCH1, FBWX7, PTEN and STK11 mutations occurred exclusively in a group of ever-smokers, however the association was not statistically significant. No mutation was found that associated with asbestos exposure. Conclusion: Finnish NSCLC patients have a similar mutation profile as other Western patients, however with a higher frequency of BRAF mutations but a lower frequency of STK11 and ERBB2 mutations. Moreover, TP53 mutations occurred frequently with other gene mutations, most commonly with KRAS, MET, EGFR and PIK3CA mutations. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
  • Kaunisto, Jaana; Salomaa, Eija-Riitta; Hodgson, Ulla; Kaarteenaho, Riitta; Myllärniemi, Marjukka (2013)
  • Kurki, Ilmari; Saarinen, Jussi; Hyvarinen, Aapo (2014)
  • Iivonen, Anna-Pauliina; Kärkinen, Juho; Yellapragada, Venkatram; Sidoroff, Virpi; Almusa, Henrikki; Vaaralahti, Kirsi; Raivio, Taneli (2021)
    Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with wholegenome linked-read sequencing) were in the FKTN gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding genes (FKTN, ZNF462, TAL2, TMEM38B, RAD23B, and KLF4). ZNF462 haploinsufficiency was consistent with the patient's Weiss-Kruszka syndrome (craniofacial phenotype, developmental delay, and sensorineural hearing loss), but did not explain his KS. In further analyses, he did not carry rare sequence variants in 32 known KS genes in whole-exome sequencing and displayed no aberrant splicing of 15 KS genes that were expressed in peripheral blood leukocyte transcriptome. The deletion was 1.8 Mb upstream of a KS candidate gene locus (PALM2AKAP2) but did not suppress its expression. In conclusion, this is the first report of a patient with Weiss-Kruszka syndrome and KS. We suggest that patients carrying a microdeletion in 9q31.2 should be evaluated for the presence of KS and KS-related features.
  • Ruonala, Verneri; Pekkonen, Eero; Airaksinen, Olavi; Kankaanpää, Markku; Karjalainen, Pasi A.; Rissanen, Saara M. (2018)
    Levodopa medication is the most efficient treatment for motor symptoms of Parkinson's disease (PD). Levodopa significantly alleviates rigidity, rest tremor, and bradykinesia in PD. The severity of motor symptoms can be graded with UPDRS-III scale. Levodopa challenge test is routinely used to assess patients' eligibility to deep-brain stimulation (DBS) in PD. Feasible and objective measurements to assess motor symptoms of PD during levodopa challenge test would be helpful in unifying the treatment. Twelve patients with advanced PD who were candidates for DBS treatment were recruited to the study. Measurements were done in four phases before and after levodopa challenge test. Rest tremor and rigidity were evaluated using UPDRS-III score. Electromyographic (EMG) signals from biceps brachii and kinematic signals from forearm were recorded with wireless measurement setup. The patients performed two different tasks: arm isometric tension and arm passive flexion-extension. The electromyographic and the kinematic signals were analyzed with parametric, principal component, and spectrum-based approaches. The principal component approach for isometric tension EMG signals showed significant decline in characteristics related to PD during levodopa challenge test. The spectral approach on passive flexion-extension EMG signals showed a significant decrease on involuntary muscle activity during the levodopa challenge test. Both effects were stronger during the levodopa challenge test compared to that of patients' personal medication. There were no significant changes in the parametric approach for EMG and kinematic signals during the measurement. The results show that a wireless and wearable measurement and analysis can be used to study the effect of levodopa medication in advanced Parkinson's disease.
  • Ahvenainen, Terhi V.; Mäkinen, Netta M.; von Nandelstadh, Pernilla; Vahteristo, Maija E. A.; Pasanen, Annukka M.; Bützow, Ralf C.; Vahteristo, Pia M. (2018)
    Background Uterine leiomyomas (ULs) are the most common gynecologic tumors and affect 3 of every 4 women by the age of 50 years. The majority of ULs are classified as conventional tumors, whereas 10% represent various histopathological subtypes with features that mimic malignancy. These subtypes include cellular and mitotically active ULs and ULs with bizarre nuclei. Uterine leiomyosarcoma (ULMS), the malignant counterpart of UL, is an aggressive cancer with poor overall survival. The early diagnosis and preoperative differentiation of ULMS from UL are often challenging because their symptoms and morphology resemble one another. Recent studies have shown frequent loss of alpha-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated protein (DAXX) expression in ULMS, and this is often associated with an alternative lengthening of telomeres (ALT) phenotype. Methods To investigate ATRX and DAXX expression and the presence of ALT in UL subtypes, immunohistochemical and telomere-specific fluorescence in situ hybridization analyses were performed. The study material consisted of 142 formalin-fixed, paraffin-embedded tissue samples representing various UL subtypes and 64 conventional ULs. Results A loss of ATRX or DAXX and/or ALT was detected in 6.3% of the histopathological UL subtype samples (9 of 142). Two patients whose ULs showed either ATRX loss or ALT were later diagnosed with a pulmonary smooth muscle tumor. Pulmonary tumors displayed molecular alterations found in the corresponding uterine tumors, which indicated metastasis to the lungs. All conventional ULs displayed normal ATRX, DAXX, and telomeres. Conclusions These results highlight the differences between conventional and histopathologically atypical ULs and indicate that some UL subtype tumors may harbor long-term malignant potential. Cancer 2018;124:4650-4656. (C) 2018 American Cancer Society.
  • Vähämurto, Pauli; Pollari, Marjukka; Clausen, Michael R.; d'Amore, Francesco; Leppä, Sirpa; Mannisto, Susanna (2020)
    Low absolute lymphocyte counts (ALC) and high absolute monocyte counts (AMC) are associated with poor survival in patients with diffuse large B-cell lymphoma (DLBCL). We studied the prognostic impact of the ALC and AMC in patients with testicular DLBCL (T-DLBCL). T-DLBCL patients were searched using Southern Finland University Hospital databases and the Danish lymphoma registry. The progression free survival (PFS) and overall survival (OS) were assessed using Kaplan-Meier and Cox proportional hazards methods. We identified 178 T-DLBCL patients, of whom 78 (44%) had a low ALC at diagnosis. The ALC did not correlate with survival in the whole cohort. However, among the patients treated with rituximab (R) containing regimen, a pre-therapeutic low ALC was associated with an increased risk of progression (HR 1.976, 95% CI 1.267-3.086,p= 0.003). Conversely, intravenous (iv) CNS directed chemotherapy translated to favorable outcome. In multivariate analyses, the advantage of an iv CNS directed chemotherapy was sustained (PFS, HR 0.364, 95% CI 0.175-0.757,p= 0.007). The benefit of R and intravenous CNS directed chemotherapy was observed only in non-lymphopenic patients. The AMC did not correlate with survival. A low ALC is an adverse prognostic factor in patients with T-DLBCL. Alternative treatment options for lymphopenic patients are needed.
  • Silvestri, Valentina; Barrowdale, Daniel; Mulligan, Anna Marie; Neuhausen, Susan L.; Fox, Stephen; Karlan, Beth Y.; Mitchell, Gillian; James, Paul; Thull, Darcy L.; Zorn, Kristin K.; Carter, Natalie J.; Nathanson, Katherine L.; Dornchek, Susan M.; Rebbeck, Timothy R.; Ramus, Susan J.; Nussbaum, Robert L.; Olopade, Olufunrnilayo I.; Rantala, Johanna; Yoon, Sook-Yee; Caligo, Maria A.; Spugnesi, Laura; Bojesen, Anders; Pedersen, Inge Sokilde; Thomassen, Muds; Jensen, Uffe Birk; Toland, Amanda Ewart; Senter, Leigha; Andrulis, Irene L.; Glendon, Gord; Hulick, Peter J.; Irnyanitov, Evgeny N.; Greene, Mark H.; Mai, Phuong L.; Singer, Christian F.; Rappaport-Fuerhauser, Christine; Kramer, Gero; Vijai, Joseph; Offit, Kenneth; Robson, Mark; Lincoln, Anne; Jacobs, Lauren; Machackova, Eva; Foretova, Lenka; Navratilova, Marie; Vasickova, Petra; Couch, Fergus J.; Hallberg, Emily; Ruddy, Kathryn J.; Sharma, Priyanka; Kim, Sung-Won; Teixeira, Manuel R.; Pinte, Pedro; Montagna, Marco; Matricardi, Laura; Arason, Adalgeir; Johannsson, Oskar Th; Barkardottir, Rosa B.; Jakubowska, Anna; Lubinski, Jan; Izquierdo, Angel; Angel Pujana, Miguel; Balmana, Judith; Diez, Orland; Ivady, Gabriella; Papp, Janos; Olah, Edith; Kwong, Ava; Nevanlinna, Heli; Aittomaki, Kristiina; Perez Segura, Pedro; Caldes, Trinidad; Van Maerken, Tom; Poppe, Bruce; Claes, Kathleen B. M.; Isaacs, Claudine; Elan, Camille; Lasset, Christine; Stoppa-Lyonnet, Dominique; Barjhoux, Laure; Belotti, Muriel; Meindl, Alfons; Gehrig, Andrea; Sutter, Christian; Enger, Christoph; Niederacher, Dieter; Steinemann, Doris; Hahnen, Eric; Kast, Karin; Arnold, Norbert; Varon-Mateeva, Raymonda; Wand, Dorothea; Godwin, Andrew K.; Evans, D. Gareth; Frost, Debra; Perkins, Jo; Adlard, Julian; Izatt, Louise; Platte, Radka; Eeles, Ros; Ellis, Steve; Hamann, Ute; Garber, Judy; Fostira, Florentia; Fountzilas, George; Pasini, Barbara; Giannini, Giuseppe; Rizzolo, Piera; Russo, Antonio; Cortesi, Laura; Papi, Laura; Varesco, Liliana; Palli, Domenico; Zanna, Ines; Savarese, Antonella; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Barile, Monica; Bonanni, Bernardo; Viel, Alessandra; Pensotti, Valeria; Tommasi, Stefania; Peterlongo, Paolo; Weitzel, Jeffrey N.; Osorio, Ana; Benitez, Javier; McGuffog, Lesley; Healey, Sue; Gerdes, Anne-Marie; Ejlertsen, Bent; Hansen, Thomas V. O.; Steele, Linda; Ding, Yuan Chun; Tung, Nadine; Janavicius, Ramunas; Goldgar, David E.; Buys, Saundra S.; Daly, Mary B.; Bane, Anita; Terry, Mary Beth; John, Esther M.; Southey, Melissa; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Ottini, Laura; kConFab Investigators; Hereditary Breast Ovarian Canc Res; EMBRACE (2016)
    Background: BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). Methods: We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database. Results: Among BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 x 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 x 10(-12)). Conclusions: On the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.
  • Meriläinen, Anna-Stiina; Pukkala, Eero; Böhling, Tom; Koljonen, Virve (2021)
    Malignant eccrine porocarcinoma is a rare skin adnexal cancer arising from the sweat glands. Little is known about the epidemiology and incidence of eccrine porocarcinoma. This registry-based study examined the epidemiology and incidence data for eccrine porocarcinoma from the Finnish Cancer Registry. The study included all persons diagnosed with eccrine porocarcinoma in 2007 to 2017. There were 69 cases in the study period; 34 (49%) male and 35 (51%) female patients. Mean age at diagnosis was 75.5 years. Incidence for men was 0.06 per 100,000 person-years and for women 0.04 per 100,000 person-years adjusted for age according to the World Standard Population. Incidence increased with age. There was one eccrine porocarcinoma-specific death among the 69 patients. The incidence of eccrine porocarcinoma in Finland is therefore low. The mean age at time of diagnosis and the location of eccrine porocarcinoma are consistent with previous reports. The survival of patients with eccrine porocarcinoma is high.
  • Lehikoinen, Anni; Orden, Maija-Riitta; Heinonen, Seppo Tapani; Voutilainen, Raimo (2016)
    AimMaternal alcohol abuse is poorly recognised and causes developmental problems. This study explored the foetal central nervous systems (CNS), head circumference and psychomotor development of children exposed to drugs or alcohol during pregnancy up to 2.5years of age. MethodsWe recruited 23 pregnant women referred to Kuopio University Hospital, Finland, by their family doctor because of drug or alcohol abuse, and 22 control mothers. Foetal CNS parameters were measured by three-dimensional ultrasonography at the mean gestational age of 20weeks and the Griffiths Mental Developmental Scales (GMDS), and anthropometric measurements were carried out at the mean ages of one and 2.5years. ResultsThe exposed foetuses had decreased biparietal and occipito-frontal distances and head circumferences, but unchanged cerebellar volume at 20weeks, and decreased head circumferences and length and height at birth, one and 2.5years of age. They scored lower than the controls on the GMDS general quotient and the hearing, language and locomotor subscales at 2.5years of age. ConclusionMaternal alcohol or drug exposure was associated with decreased head size from mid-pregnancy to childhood and reduced development at 2.5years. Foetal head circumference at mid-pregnancy was a useful indicator of substance abuse affecting theCNS.
  • Paavilainen, Petri; Kaukinen, Crista; Koskinen, Oskari; Kylmälä, Julia; Rehn, Leila (2018)
    The study investigated whether violations of abstract regularities in two parallel auditory stimulus streams can elicit the MMN (mismatch negativity) event-related potential. Tone pairs from a low (220-392 Hz) and a high (1319-2349 Hz) stream were delivered in an alternating order either at a fast or a slow pace. With the slow pace, the pairs were perceptually heard as a single stream obeying an alternating low pair-high pair pattern, whereas with the fast pace, an experience of two separate auditory streams, low and high, emerged. Both streams contained standard and deviant pairs. The standard pairs were either in both streams ascending in the direction of the within-pair pitch change or in the one stream ascending and in the other stream descending. The direction of the deviant pairs was opposite to that of the same-stream standard pairs. The participant's task was either to ignore the auditory stimuli or to detect the deviant pairs in the designated stream. The deviant pairs elicited an MMN both when the directions of the standard pairs in the two streams were the same or when they were opposite. The MMN was present irrespective of the pace of stimulation. The results indicate that the preattentive brain mechanisms, reflected by the MMN, can extract abstract regularities from two concurrent streams even when the regularities are opposite in the two streams, and independently of whether there perceptually exists only one stimulus stream or two segregated streams. These results demonstrate the brain's remarkable ability to model various regularities embedded in the auditory environment and update the models when the regularities are violated. The observed phenomena can be related to several aspects of auditory information processing, e.g., music and speech perception and different forms of attention.
  • Ahlholm, Ville-Heikki; Rönkkö, Viljami; Ala-Mursula, Leena; Karppinen, Jaro; Oura, Petteri (2021)
    Background: Multisite pain is commonly chronic and often lacks its initial role as a potential tissue damage signal. Chronic pain among working-age individuals is a risk for disability and imposes a major burden on health care systems and society. As effective treatments for chronic pain are largely lacking, better identification of the factors associated with pain over working years is needed. Methods: Members of the Northern Finland Birth Cohort 1966 participated in data collection at the ages of 31 (n = 4,028) and 46 (n = 3,429). Using these two time points, we performed a multivariable analysis of the association of socioeconomic, occupational, psychological and lifestyle factors (i.e., low education, living alone, low household income, unemployment, occupational physical exposures [hard physical labor, leaning forward, back twisting, constant moving, lifting loads of ≥ 1 kg], physical inactivity, regular smoking, regular drinking, overweight, and psychiatric symptoms) with the number of musculoskeletal pain sites (i.e., upper extremity, lower extremity, lower back, and the neck-shoulder region; totalling 0–4 pain sites). The data were analyzed using generalized estimating equations. Results: At the age of 31, multisite pain was reported by 72.5% of men and 78.6% of women. At the age of 46, the prevalence of multisite pain was 75.7% among men and 82.7% among women. Among men, the number of pain sites was positively associated with age (rate ratio 1.05, 95% confidence interval 1.01–1.08), low household income (1.05, 1.01–1.08), unemployment (1.13, 1.06–1.19), any occupational exposure (1.17, 1.12–1.22), regular smoking (1.06, 1.02–1.11), and psychiatric symptoms (1.21, 1.17–1.26). Among women, the number of pain sites was positively associated with age (1.06, 1.04–1.10), unemployment (1.10, 1.05–1.15), any occupational exposure (1.10, 1.06–1.13), regular smoking (1.06, 1.02–1.10), overweight (1.08, 1.05–1.11), and psychiatric symptoms (1.19, 1.15–1.22); living alone was negatively associated with the number of pain sites (0.95, 0.91–0.99). Conclusion: Of the studied predictors, psychiatric symptoms, occupational physical exposures and unemployment were most strongly associated with multisite pain among both sexes. The results of this study deepen the understanding of the underlying factors of and comorbidities behind multisite pain, and help develop pain relief and rehabilitation strategies for working-age individuals with multisite pain.
  • Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P.; Avela, Kristiina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, Jill; Cocco, Isabella; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Garcia, Juliette Dupont; Gastaldi, Roberto; Giordano, Lucio; Guala, Andrea; Hoei-Hansen, Christina; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Moller, Rikke S.; Muschke, Petra; Otelli, Valeria; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Reina, Purificacion Marin; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Simonte, Graziella; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maria Elisabeth; Iughetti, Lorenzo; Bernasconi, Sergio; Rossi, Paolo Giorgi; Garavelli, Livia (2020)
    Background Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of theZEB2gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.
  • Virtala, Paula; Partanen, Eino; Tervaniemi, Mari; Kujala, Teija (2018)
    To process complex stimuli like language, our auditory system must tolerate large acoustic variance, like speaker variability, and still be sensitive enough to discriminate between phonemes and to detect complex sound relationships in, e.g., prosodic cues. Our study determined discrimination of speech sounds in input mimicking natural speech variability, and detection of deviations in regular pitch relationships (rule violations) between speech sounds. We investigated the automaticity and the influence of attention and explicit awareness on these changes by recording the neurophysiological mismatch negativity (MMN) and P3a as well as task performance from 21 adults. The results showed neural discrimination of phonemes and rule violations as indicated by MMN and P3a, regardless of whether the sounds were attended or not, even when participants could not explicitly describe the rule. While small sample size precluded statistical analysis of some outcomes, we still found preliminary associations between the MMN amplitudes, task performance, and emerging explicit awareness of the rule. Our results highlight the automaticity of processing complex aspects of speech as a basis for the emerging conscious perception and explicit awareness of speech properties. While MMN operates at the implicit processing level, P3a appears to work at the borderline of implicit and explicit.
  • Pikkarainen, Essi; Blomster, Juuso; Sipilä, Jussi; Rautava, Päivi; Kytö, Ville (2019)
    Objectives The occurrence and mortality of vasospastic angina pectoris (VAP) is largely unknown in western countries. Our objective was to darify the occurrence, gender-distribution and mortality of VAP in Finland using a population-based hospital registry. Methods We studied consecutive patients aged >= 18 years hospitalized with VAP as the primary cause of admission in Finland during 2004-2014. The data were collected from obligatory nationwide registries. During the study period 1762 admissions were recorded. Results Majority of all VAP patients were male (59.7%) and mean age was 65.7 +/- 12.0 years. Annual admission rate for VAP was 2.29/100 000 person-years. Men were in higher risk for VAP than women (admission rate 3.00/100 000 vs 1.68 / 100 000; RR 1.70; p Conclusions Men have higher risk for vasospastic angina caused admissions. Likelihood of vasospastic angina admission was highest in aged population. The 3-year all-cause mortality was 15.5%. Mortality was associated with increasing age, comorbidities and non-obstructive VAP diagnosis but was similar between genders.
  • Dammacco, Rosanna; Biswas, Jyotirmay; Kivelä, Tero T.; Zito, Francesco Alfredo; Leone, Patrizia; Mavilio, Alberto; Sisto, Dario; Alessio, Giovanni; Dammacco, Franco (2020)
    Purpose To describe the ocular manifestations in a cohort of patients with systemic sarcoidosis (SS). Recent advances in the pathophysiology, diagnosis, and therapy of SS are also discussed. Methods Data from 115 Italian patients diagnosed between 2005 and 2016 were retrospectively reviewed. All but the first 17 patients underwent a comprehensive ophthalmologic examination. The diagnosis was based on clinical features, the demonstration of non-caseating granulomas in biopsies from involved organs, and multiple imaging techniques. Data on broncho-alveolar lavage fluid analysis, calcemia, calciuria, serum angiotensin-converting enzyme levels and soluble interleukin-2 receptor levels were retrieved when available. Results Ocular involvement, detected in 33 patients (28.7%), was bilateral in 29 (87.9%) and the presenting feature in 13 (39.4%). Anterior uveitis was diagnosed in 12 patients (36.4%), Lofgren syndrome and uveoparotid fever in one patient each (3%), intermediate uveitis in 3 patients (9.1%), posterior uveitis in 7 (21.2%), and panuveitis in 9 (27.3%). First-line therapy consisted of corticosteroids, administered as eyedrops (10 patients), sub-Tenon's injections (1 patient), intravitreal implants (9 patients), or systemically (23 patients). Second-line therapy consisted of steroid-sparing immunosuppressants, including methotrexate (10 patients) and azathioprine (10 patients). Based on pathogenetic indications that tumor necrosis factor (TNF)-alpha is a central mediator of granuloma formation, adalimumab, targeting TNF-alpha, was employed in 6 patients as a third-line agent for severe/refractory chronic sarcoidosis. Conclusion Uveitis of protean type, onset, duration, and course remains the most frequent ocular manifestation of SS. Diagnostic and therapeutic advancements have remarkably improved the overall visual prognosis. An ophthalmologist should be a constant component in the multidisciplinary approach to the treatment of this often challenging but intriguing disease.
  • Coca-Pelaz, Andres; Shah, Jatin P.; Hernandez-Prera, Juan C.; Ghossein, Ronald A.; Rodrigo, Juan P.; Hartl, Dana M.; Olsen, Kerry D.; Shaha, Ashok R.; Zafereo, Mark; Suarez, Carlos; Nixon, Iain J.; Randolph, Gregory W.; Mäkitie, Antti A.; Kowalski, Luiz P.; Vander Poorten, Vincent; Sanabria, Alvaro; Guntinas-Lichius, Orlando; Simo, Ricard; Zbaren, Peter; Angelos, Peter; Khafif, Avi; Rinaldo, Alessandra; Ferlito, Alfio (2020)
    Introduction Aggressive variants of papillary thyroid cancer (PTC) have been described with increasing frequency. These variants include diffuse sclerosing variant, tall cell variant, columnar cell variant, solid variant, and hobnail variant. Methods We have performed a review of the more aggressive variants of PTC with respect to main characteristics, histological and molecular features, and the consequences that the knowledge of these variants should have in the treatment of the patients. Results At the present time, we do not know the prognostic value of these aggressive PTC variants. The extent of the surgical treatment and adjuvant therapy necessary should be decided on the basis of the extent of the tumor at presentation and the opinion of experienced clinicians. Conclusion These aggressive variants should be known by clinicians, to avoid underdiagnosis, and treated according to the latest recommendations in the literature.