Does the Acoustic Voice Quality Index (AVQI) correlate with perceived creak and strain in normophonic young adult Finnish females?

acceptedVersionPeer reviewe

Vocal Fatigue Index in Finnish-Speaking Population

Background and objective: Vocal fatigue is an important complaint that may indicate a voice disorder or a risk thereof. There is a need for a reliable tool to detect and quantify vocal fatigue and distinguish dysphonic and vocally healthy speakers. The Vocal Fatigue Index (VFI) questionnaire has been found valid and reliable among speakers of different languages. This study aims to validate it for speakers of Finnish. Study design: Experimental comparative study. Methods: The VFI questionnaire was translated from English to Finnish according to the WHO recommendations. Next, it was subjected to the validation procedure. In total, 160 Finnish speakers volunteered to participate in the study. Hundred-and-eight were voice patients (83 males, 25 females) and 52 were vocally healthy controls (37 females, 15 males). As a comparison, the Voice Handicap Index (VHI) questionnaire was completed and voice samples were recorded to enable Acoustic Voice Quality Index (AVQI03.01FIN) analysis. Results: Results from the first and second completions of the VFI(F) questionnaire correlated strongly (Spearman's rho 0.901, P = 0.01). Answers to the individual questions the VFI(F) also correlated strongly, showing high internal consistency. Factor 1 (Tiredness of voice and avoidance of voice use) of the VFI correlated strongly with the VHI, and the two other factors (Physical discomfort associated with voicing and Improvement of symptoms) correlated moderately with the VHI. Factor one of the VFI(F) correlated moderately with AVQI03.01FIN and its sub-parameters, CPPS, HNR, and shimmer. The VFI(F) showed good construct validity, differentiating voice patients and controls at cut-off 13.5, with sensitivity of 0.963 and specificity of 0.885. Discriminatory power was strong for all factors: F1 AROC = 0.985, F2 AROC = 0.864, and F3 AROC = 0.821. Conclusion: The VFI(F) correlates with the VHI and with AVQI01.01FIN and it is a valid and reliable tool for detecting vocal fatigue in Finnish speakers.Peer reviewe

Akustinen äänenlaatuindeksi (AVQI) äänen arvioinnissa: Alustava monitapaustutkimus äänitystason, -tilan ja äänentuottotavan vaikutuksista

The AVQI is used for the evaluation of dysphonia. This preliminary study investigated howmuch the index is affected by a low input gain level or background noise during recording,as well as the speaker’s gender and way of speaking when the recommended recording deviceare used. Samples were obtained from two vocally healthy speakers and two voice patients (male andfemale in both cases). The healthy participants were recorded in an acoustically treated studiowith a head-set microphone while reading a passage and sustaining [a:] in a habitual way,softly, loudly, and in a higher than the habitual pitch. The recordings and the voice patients’samples were re-recorded in a studio and in an ordinary office using an optimal and low gainlevel. The AVQI was calculated. The recording level, room noise, and speaker’s gender had a minor effect on the AVQI. Thedysphonic voices obtained the highest (= worst) AVQI values. The healthy participants’ softsamples resulted in AVQI values typical of dysphonia. When the AVQI is utilized for voiceevaluation, it is important to ensure that the voice samples are produced at a conversationalloudness.Kuudesta parametrista muodostuvaa akustista äänenlaatuindeksiä (AVQI) käytetään äänihäiriöiden objektiiviseen arviointiin. Tämä tutkimus on alustava selvitys siitä, paljonko AVQI:in vaikuttavat äänitystaso, ympäristön taustakohina, puhujan puhetapa ja sukupuoli silloin, kun käytetään suositeltua äänityslaitteistoa. Näytteet tallennettiin kahdelta terveääniseltä (mies ja nainen) sekä äänihuulihalvauksesta (mies) ja toiminnallisesta äänihäiriöstä (nainen) kärsineeltä henkilöltä. Terveäänisten puhujien näytteet äänitettiin vaimennetussa studiossa. He lukivat lyhyen tekstin ja äänsivät [a:]-vokaalia 5 sekuntia itselleen tavanomaisella, sekä hiljaisella, voimakkaalla ja korkealla äänellä. Huonon äänitystason ja -ympäristön vaikutusten tarkastelua varten ääninäytteet soitettiin yksitiekaiuttimen kautta ja äänitettiin uudelleen studiossa (taustakohinataso 17,3 dBA) ja toimisto-olosuhteissa (taustakohinataso 34,4 dBA) kahdella äänitystasolla. Kaiuttimen kautta soitetuista näytteistä laskettiin AVQI. Tulosten mukaan äänitystaso, -tila ja sukupuoli vaikuttivat vain vähän AVQI-lukuun ja sen parametreihin. Eniten AVQI-lukua nosti häiriöinen äänenlaatu. Myös puhetapa vaikutti: hiljaisesti tuotetuissa ääninäytteissä terveääniset saivat äänihäiriöille tyypillisiä arvoja. AVQI:a käytettäessä on tärkeää kontrolloida, että puhujat tuottavat ääninäytteet itselleen tavanomaisella puhevoimakkuudella ja -korkeudella. Tämä on oleellista etenkin toistomittauksissa

Akustisen äänenlaatuindeksin (AVQI) version 03.01 validointi suomenkielisille puhujille

The Acoustic Voice Quality Index (AVQI) is an objective tool based on six acoustic parameters.It uses sustained vowel and continuous speech in the analyses and therefore it must be validatedin different languages. In this study, the newest version of AVQI (03.01) with an extendedcontinuous speech sample and improved internal consistency was validated to Finnish-speakingpopulation. The study included 197 native Finnish-speaking voluntary participants, out ofwhich 111 were patients from a phoniatric clinic and 86 were healthy voice users. A sustainedvowel and a reading sample were recorded. Mean number of the syllables comparable to the3 second sustained vowel was calculated from the reading samples. Sixteen voice specialistsevaluated the overall voice quality of the voice samples with a four-point scale. Statistic analyseswere performed to test the diagnostic accuracy between healthy and disordered voices inFinnish-speaking population. The number of syllables, comparable to 3 seconds of sustainedvowel, was 31. The correlation between the AVQI scores and the overall voice quality wasstrong (Spearman’s rho 0.77, p= 0.01). The AVQI score 1.83 was the best to distinguish healthyand dysphonic voices. The study confirmed the AVQI03.01FIN version to be a good tool invoice disorder diagnostics in Finnish speaking population.Akustinen äänenlaatuindeksi (AVQI) on objektiivinen, kuuteen eri akustiseen muuttujaan perustuva äänen arviointimenetelmä. Se käyttää analyysissaan vokaali- ja jatkuvan puheen ääninäytettä, ja siksi AVQI validoidaan ennen käyttöönottoa eri kielille. Tässä tutkimuksessa validoitiin AVQI:n uusi, sisäisesti yhdenmukaisempi, pidempää jatkuvan puheen näytettä käyttävä versio (03.01) suomenkielisille puhujille. Tutkimuksessa oli osallistujina 197 vapaaehtoista, äidinkielenään suomea puhuvaa henkilöä, joista 111 oli sairaalan foniatrisen yksikön potilaita ja 86 terveäänisiä. Osallistujilta tallennettiin luenta- ja vokaaliääninäytteet. Luentanäytteistä mitattiin keskimääräinen kolmen sekunnin vokaaliääntöä vastaava tavujen määrä. Kuusitoista asiantuntijakuuntelijaa arvioi neliportaisella asteikolla äänen yleislaatua. Tilastollisilla menetelmillä arvioitiin AVQI-analyysin diagnostista kykyä erotella terve- ja äänihäiriöääni toisistaan suomenkielisellä aineistolla. Kolmen sekunnin vokaaliääntöä vastaavaksi tavumääräksi määritettiin 31 tavua. AVQI-tulosten ja kuunteluarvioiden välinen yhteys oli vahva (Spearmanin rho 0.77, p= 0.01). Paras erottelevuus terveen- ja äänihäiriöäänen välille saatiin raja-arvolla 1,83. Tutkimus osoitti AVQI 03.01FIN -version toimivan hyvin äänihäiriöiden diagnostisena työkaluna

Comparison of real-time PCR and microscopy for malaria parasite detection in Malawian pregnant women

Abstract Background New diagnostic tools for malaria are required owing to the changing epidemiology of malaria, particularly among pregnant women in sub-Saharan Africa. Real-time PCR assays targeting Plasmodium falciparum lactate dehydrogenase (pfldh) gene may facilitate the identification of a high proportion of pregnant women with a P. falciparum parasitaemia below the threshold of microscopy. These molecular methods will enable further studies on the effects of these submicroscopic infections on maternal health and birth outcomes. Methods The pfldh real-time PCR assay and conventional microscopy were compared for the detection of P. falciparum from dried blood spots and blood smears collected from the peripheral blood of 475 Malawian women at delivery. A cycle threshold (Ct) of the real-time PCR was determined optimizing the sensitivity and specificity of the pfldh PCR assay compared to microscopy. A real-time PCR species-specific assay was applied to identify the contribution to malaria infections of three Plasmodium species (P. falciparum P. ovale and P. malariae) in 44 discordant smear and pfldh PCR assay results. Results Of the 475 women, P. falciparum was detected in 11 (2.3%) by microscopy and in 51 (10.7%) by real-time PCR; compared to microscopy, the sensitivity of real-time PCR was 90.9% and the specificity 91.2%. If a Ct value of 38 was used as a cut-off, specificity improved to 94.6% with no change in sensitivity. The real-time PCR species-specific assay detected P. falciparum alone in all but four samples: two samples were mixed infections with P. falciparum and P. malariae, one was a pure P. malariae infection and one was a pfldh PCR assay-positive/species-specific assay-negative sample. Of three P. malariae infections detected by microscopy, only one was confirmed by the species-specific assay. Conclusions Although microscopy remains the most appropriate method for clinical malaria diagnosis in field settings, molecular diagnostics such as real-time PCR offer a more reliable means to detect malaria parasites, particularly at low levels. Determination of the possible contribution of these submicroscopic infections to poor birth outcomes and maternal health is critical. For future studies to investigate these effects, this pfldh real-time PCR assay offers a reliable detection method

The effect of monthly sulfadoxine-pyrimethamine, alone or with azithromycin, on pcr-diagnosed malaria at delivery: A randomized controlled trial

10.1371/journal.pone.0041123PLoS ONE77

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10- 6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor–negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10-5 and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10-5, respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed. Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

Male breast cancer in BRCA1 and BRCA2 mutation carriers : pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

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.Peer reviewe