1. |
- Björkman, Kristoffer, et al.
(författare)
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Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
- 2022
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Ingår i: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
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2. |
- Sundell, Anna Lena, 1970-
(författare)
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Children with orofacial clefts : dental caries and health-related quality of life
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background. The current understanding on caries and enamel developmental defects prevalence and frequency, caries risk, health-related quality life (HRQoL) and stress response in young children with cleft lip and/or palate (CL/P) are sparse. In this thesis these aspects were investigated in 5- and 10- year-old children with CL/P in comparison to non-cleft children in the same ages.Design. The studies in this thesis have a cross-sectional case-control design. Participants. The study group consisted of 139 children with CL/P (80 children aged 5 years and 59 aged 10 years) and 313 non-cleft controls (144 children aged 5 years and 169 aged 10 years).Method. Caries was scored according to International Caries Detection and Assessment System (ICDAS II) and developmental enamel defects were measured as presence and frequency of hypoplasia and hypomineralization. Oral hygiene was assessed using Quigley-Hein plaque index. Stimulated saliva samples were analyzed for mutans streptococci, lactobacilli, buffering capacity and secretion rates. Information regarding children’s oral hygiene routines, dietary habits and fluoride exposure were collected with questionnaires. Caries risk was evaluated with algorithm-based software, Cariogram while HRQoL was perceived with KIDSCREEN-52. Stress response was analyzed with cortisol concentration in saliva at three different time points using a commercial competitive radioimmunoassay.Results. Caries prevalence (36% versus 18%) and caries frequency (1.2 dmfs versus 0.9 dmfs) was significantly higher in 5-year-old children with CL/P in comparison to non-cleft controls. In 10-yearolds no significant difference was found between children with CL/P and non-cleft controls in caries prevalence (47% versus 38%) or in caries frequency (0.7 DMFS versus 0.5 DMFS). Children with CL/P had significantly higher prevalence of enamel defects, higher counts of salivary lactobacilli and less good oral hygiene. The odds of being categorized with high caries risk were elevated in children with CL/P. Children with CL/P had similar HRQoL and salivary cortisol concentrations as non-cleft controls. However, 10-year-old boys with CL/P had significantly higher cortisol concentrations in the evening than non-cleft boys.Conclusions. Preschool children with CL/P seem to have more caries in the primary dentition than non-cleft controls. Children with CL/P had increased odds of being categorized as high caries risk individuals compared to controls. Some of the contributing factors seem to be higher prevalence of enamel defects, impaired oral hygiene and elevated salivary lactobacilli. Furthermore, as measured with the help of cortisol concentrations in saliva, children with CL/P were not more stressed than noncleft controls and their HRQoL was comparable to a European norm population. It appears that regular comprehensive preventive oral care in children with CL/P is effective in preventing caries development in permanent teeth. However, children with CL/P are at risk of caries development and preventive oral care should be implemented and started earlier than today.
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3. |
- Mirkoska, Vesna, et al.
(författare)
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Detection of subclinical motor speech deficits after presumed low-grade glioma surgery
- 2023
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Ingår i: Brain Sciences. - : MDPI. - 2076-3425. ; 13:12
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Tidskriftsartikel (refereegranskat)abstract
- Motor speech performance was compared before and after surgical resection of presumed low-grade gliomas. This pre- and post-surgery study was conducted on 15 patients (mean age = 41) with low-grade glioma classified based on anatomic features. Repetitions of /pa/, /ta/, /ka/, and /pataka/ recorded before and 3 months after surgery were analyzed regarding rate and regularity. A significant reduction (6 to 5.6 syllables/s) pre- vs. post-surgery was found in the rate for /ka/, which is comparable to the approximate average decline over 10–15 years of natural aging reported previously. For all other syllable types, rates were within normal age-adjusted ranges in both preoperative and postoperative sessions. The decline in /ka/ rate might reflect a subtle reduction in motor speech production, but the effects were not severe. All but one patient continued to perform within normal ranges post-surgery; one performed two standard deviations below age-appropriate norms pre- and post-surgery in all syllable tasks. The patient experienced motor speech difficulties, which may be related to the tumor’s location in an area important for speech. Low-grade glioma may reduce maximum speech-motor performance in individual patients, but larger samples are needed to elucidate how often the effect occurs.
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5. |
- Socher, Michaela, et al.
(författare)
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Comparing the semantic networks of children with cochlear implants and children with typical hearing: Effects of length of language access
- 2022
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Ingår i: Journal of Communication Disorders. - : Elsevier. - 0021-9924 .- 1873-7994. ; 99
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Tidskriftsartikel (refereegranskat)abstract
- PurposeKenett et al. (2013) report that the sematic networks, measured by using an oral semantic fluency task, of children with cochlear implants (CI) are less structured compared to the sematic networks of children with typical hearing (TH). This study aims to evaluate if such differences are only evident if children with CI are compared to children with TH matched on chronological age, or also if they are compared to children with TH matched on hearing age.MethodThe performance of a group of children with CI on a verbal fluency task was compared to the performance of a group of chronological-age matched children with TH. Subsequently, computational network analysis was used to compare the semantic network structure of the groups. The same procedure was applied to compare a group of children with CI to a group of hearing-age matched children with TH.ResultsThe children with CI perform on the same level on an oral semantic verbal fluency task as the children with TH matched on hearing age. There are significant differences in terms of the structure of the semantic network between the groups. The magnitude of these differences is very small and they are non-significant for a proportion of nodes included in the bootstrap analysis. This indicates that there is no true difference between the networks. Hearing age, but not age at implantation was found to be significantly positively correlated with semantic verbal fluency performance for the children with CI.ConclusionsThe results from the current study indicate that length of language exposure is an important factor for the structure of the semantic network and the performance on a semantic verbal fluency task for children with CI. Further studies are needed to explore the role of the accessibility of the language input for the development of semantic networks of children with CI.
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6. |
- Hedbrant, Johan, 1959-, et al.
(författare)
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Ny mätmetod för käkmuskulaturen kan finna orsaken till tinnitus : Slutrapport Nutek 92-11904
- 1997
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Tinnitus är en åkomma som i lindrigare eller allvarligare former drabbar 17% av västvärldens befolkning. Ca 85 000 svenskar har tinnitus på invalidiserande nivå. Förutom mänskligt lidande orsakar tinnitus samhällskostnader på ca 1.5 miljard kr årligen. Orsaken är till största delen okänd.Vissa tecken tyder på ett samband mellan tinnitus och funktionsstörning i en käkmuskel. Några olika icke–invasiva metoder för mätning av muskelstörning i M Pterygoideus Lateralis har utvärderas. Två av dessa är intressanta för fortsatta studier.Termografi användes för att diagnosticera muskelstörningar på ytligt liggande muskler. Vi såg åtskilliga varma områden på ytliga käk– och nackmuskler på de patienter som hade käkledsstörningar, samt möjligen tecken på onormal värme från M Pterygoideus Lateralis. Mätförhållandena var dock ej ideala.En metod att mäta EMG med adaptiv noise cancelling provades. EMG från en ryggmuskel, stört av en “EKG–signal” från hjärtat användes. Metoden fungerade bra. Fortsatt metodutveckling på t.ex. ryggmuskler borde göras.
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7. |
- Danielsson, D., et al.
(författare)
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Brachytherapy and osteoradionecrosis in patients with base of tongue cancer
- 2023
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Ingår i: Acta Oto-Laryngologica. - : Informa UK Limited. - 0001-6489 .- 1651-2251. ; 143:1, s. 77-84
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Tidskriftsartikel (refereegranskat)abstract
- Background: Base of tongue cancer incidence and patient survival is increasing why treatment sequelae becomes exceedingly important. Osteoradionecrosis (ORN) is a late adverse effect of radiotherapy and brachytherapy (BT) could be a risk factor. Brachytherapy is used in three out of six health care regions in Sweden. Aims: Investigate if patients treated in regions using BT show an increased risk for ORN and whether brachytherapy has any impact on overall survival. Material and Methods: We used data from the Swedish Head and Neck Cancer Register between 2008–2014. Due to the nonrandomized nature of the study and possible selection bias we compared the risk for ORN in brachy vs non-brachy regions. Results: Fifty out of 505 patients (9.9%) developed ORN; eight of these were treated in nonbrachy regions (16%), while 42 (84%) were treated in brachy regions. Neither age, sex, TNM-classification/stage, p16, smoking, neck dissection, or chemotherapy differed between ORN and no-ORN patients. The risk for ORN was significantly higher for patients treated in brachy regions compared to non-brachy regions (HR = 2,63, p =.012), whereas overall survival did not differ (HR = 0.95, p =.782). Conclusions and Significance: Brachytherapy ought to be used cautiously for selected patients or within prospective randomized studies.
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8. |
- Hua, Håkan, et al.
(författare)
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The impact of different background noises : effects on cognitive performance and perceived disturbance in employees with aided hearing impairment and normal hearing
- 2014
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Ingår i: Journal of the American Academy of Audiology. - : American Academy of Audiology. - 1050-0545 .- 2157-3107. ; 25:9, s. 859-868
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Tidskriftsartikel (refereegranskat)abstract
- Background: Health care professionals frequently meet employees with hearing impairment (HI) who experience difficulties at work. There are indications that the majority of these difficulties might be related to the presence of background noise. Moreover, research has also shown that high-level noise has a more detrimental effect on cognitive performance and self-rated disturbance in individuals with HI than low-level noise.Purpose: The purpose of this study was to examine the impact of different types of background noise on cognitive performance and perceived disturbance (PD) in employees with aided HI and normal hearing.Research Design: A mixed factorial design was conducted to examine the effect of noise in four experimental conditions.Study Sample: A total of 40 participants (21 men and 19 women) were recruited to take part in the study. The study sample consisted of employees with HI (n = 20) and normal hearing (n = 20). The group with HI had a mild-moderate sensorineural HI, and they were all frequent hearing-aid users.Intervention: The current study was conducted by using four general work-related tasks (mental arithmetic, orthographic decoding, phonological decoding, and serial recall) in four different background conditions: (1) quiet, (2) office noise at 56 dBA, (3) daycare noise at 73.5 dBA, and (4) traffic noise at 72.5 dBA. Reaction time and the proportion of correct answers in the working tasks were used as outcome measures of cognitive performance. The Borg CR-10 scale was used to assess PD.Data Collection and Analysis: Data collection occurred on two separate sessions, completed within 4 wk of each other. All tasks and experimental conditions were used in a counterbalanced order. Two-way analysis of variance with repeated measures was performed to analyze the results. To examine interaction effects, pairwise t-tests were used. Pearson correlation coefficients between reaction time and proportion of correct answers, and cognitive performance and PD were also calculated to examine the possible correlation between the different variables.Results: No significant between-group or within-group differences in cognitive performance were observed across the four background conditions. Ratings of PD showed that both groups rated PD according to noise level, where higher noise level generated a higher PD. The present findings also demonstrated that the group with HI was more disturbed by higher than lower levels of noise (i.e., traffic and daycare setting compared with office setting). This pattern was observed consistently throughout four working tasks where the group with HI reported a significantly greater PD in the daycare and traffic settings compared with office noise.Conclusions: The present results demonstrate that background noise does not impair cognitive performance in nonauditory tasks in employees with HI and normal hearing, but that PD is affected to a greater extent in employees with HI during higher levels of background noise exposure. In addition, this study also supports previous studies regarding the detrimental effects that high-level noise has on employees with HI. Therefore, we emphasize the need of both self-rated and cognitive measurements in hearing care and occupational health services for both employees with normal hearing and HI.
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9. |
- Karlsson, Fredrik, Docent, 1975-, et al.
(författare)
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Assessment of speech impairment in patients with Parkinson's disease from acoustic quantifications of oral diadochokinetic sequences
- 2020
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Ingår i: Journal of the Acoustical Society of America. - : Acoustical Society of America (ASA). - 0001-4966 .- 1520-8524. ; 147:2, s. 839-851
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Tidskriftsartikel (refereegranskat)abstract
- This investigation aimed at determining whether an acoustic quantification of the oral diadochokinetic (DDK) task may be used to predict the perceived level of speech impairment when speakers with Parkinson's disease (PD) are reading a standard passage. DDK sequences with repeated [pa], [ta], and [ka] syllables were collected from 108 recordings (68 unique speakers with PD), along with recordings of the speakers reading a standardized text. The passage readings were assessed in five dimensions individually by four speech-language pathologists in a blinded and randomized procedure. The 46 acoustic DDK measures were merged with the perceptual ratings of read speech in the same recording session. Ordinal regression models were trained repeatedly on 80% of ratings and acoustic DDK predictors per dimension in 10-folds, and evaluated in testing data. The models developed from [ka] sequences achieved the best performance overall in predicting the clinicians' ratings of passage readings. The developed [pa] and [ta] models showed a much lower performance across all dimensions. The addition of samples with severe impairments and further automation of the procedure is required for the models to be used for screening purposes by non-expert clinical staff.
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10. |
- Löfqvist, Anders
(författare)
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Vowel-related tongue movements in speech: Straight or curved paths? (L).
- 2011
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Ingår i: The Journal of the Acoustical Society of America. - : Acoustical Society of America (ASA). - 1520-8524 .- 0001-4966. ; 129:3, s. 1149-1152
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Tidskriftsartikel (refereegranskat)abstract
- This paper examines tongue movements between the two vowels in sequences of vowel-labial consonant-vowel, addressing the question whether the movement is a straight line or a curved path. Native speakers of Japanese and Italian served as subjects. The linguistic material consisted of words where the bilabial consonant was either long or short. The inclusion of words with different consonant lengths was motivated by earlier findings that the tongue movement is often longer when the consonant is long, which may be due to a more curved movement path. Tongue movements were recorded using a three-transmitter magnetometer system. To assess the movement path, the movement magnitude was calculated in two ways, as a straight line, the Euclidean distance, and as the actual path, obtained by summing the individual Euclidean distances between successive samples from movement onset to offset. The ratio between the path and the Euclidean distance is 1 when the movement is a straight line and greater than 1 when the path is curved. Results show that in virtually all 21 cases examined the ratio was very close to 1 and in most cases 1.2 or less. There was no reliable influence of consonant length on the ratio.
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11. |
- Grote, Ludger, 1964, et al.
(författare)
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National Knowledge-Driven Management of Obstructive Sleep Apnea-The Swedish Approach
- 2023
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Ingår i: Diagnostics. - : MDPI AG. - 2075-4418. ; 13:6
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: This paper describes the development of "Swedish Guidelines for OSA treatment" and the underlying managed care process. The Apnea Hypopnea Index (AHI) is traditionally used as a single parameter for obstructive sleep apnea (OSA) severity classification, although poorly associated with symptomatology and outcome. We instead implement a novel matrix for shared treatment decisions based on available evidence. Methods: A national expert group including medical and dental specialists, nurses, and patient representatives developed the knowledge-driven management model. A Delphi round was performed amongst experts from all Swedish regions (N = 24). Evidence reflecting treatment effects was extracted from systematic reviews, meta-analyses, and randomized clinical trials. Results: The treatment decision in the process includes a matrix with five categories from a "very weak"" to "very strong" indication to treat, and it includes factors with potential influence on outcome, including (A) OSA-related symptoms, (B) cardiometabolic comorbidities, (C) frequency of respiratory events, and (D) age. OSA-related symptoms indicate a strong incitement to treat, whereas the absence of symptoms, age above 65 years, and no or well-controlled comorbidities indicate a weak treatment indication, irrespective of AHI. Conclusions: The novel treatment matrix is based on the effects of treatments rather than the actual frequency of respiratory events during sleep. A nationwide implementation of this matrix is ongoing, and the outcome is monitored in a prospective evaluation by means of the Swedish Sleep Apnea Registry (SESAR).
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13. |
- Hallén, Tobias, et al.
(författare)
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Sinonasal Symptoms and Self-Reported Health before and after Endoscopic Pituitary Surgery-A Prospective Study
- 2022
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Ingår i: Journal of Neurological Surgery, Part B: Skull Base. - : Georg Thieme Verlag KG. - 2193-634X .- 2193-6331. ; 83:suppl. 2
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Tidskriftsartikel (refereegranskat)abstract
- © 2021 Thieme Medical Publishers, Inc.. All rights reserved. Objectives Despite the limited invasiveness of endoscopic transsphenoidal surgery (ETSS), some degree of nasal structure destruction is unavoidable. Our objective was to evaluate sinonasal morbidity and self-reported health before and 6 months after ETSS for pituitary tumors, and to identify possible predictive factors for deterioration in sinonasal health. Design Prospective observational cohort study. Setting University tertiary referral hospital. Participants Totally 109 consecutive adult patients undergoing ETSS for pituitary tumors between 2015 and 2019. Main Outcome Measures Sinonasal symptoms and self-reported health before and 6 months after ETSS, assessed by the Sinonasal Outcome Test (SNOT-22) and the EQ-5D questionnaire. Predictive factors for postoperative deterioration in sinonasal symptoms. Results The overall SNOT-22 score did not change, but the score of the rhinologic domain of SNOT-22 worsened from 6.0 ± 5.9 before to 8.0 ± 7.4 6 months after surgery (p = 0.011). The EQ-5D visual analog scale improved from 64.0 ± 22.9 before to 71.1 ± 18.7 6 months after surgery (p = 0.00088). Univariate and multivariable regression analyses showed that prior sinonasal surgery was associated with a significant worsening in rhinologic symptoms 6 months after surgery (p = 0.046 and p = 0.020, respectively). Conclusions Although self-reported overall health improved, significant deterioration of rhinologic symptoms was seen 6 months after ETSS. This information is important for preoperative patient counselling. Further refinement of the surgical technique and follow-up strategies to reduce postoperative sinonasal morbidity could be of value, especially in patients who have undergone prior sinonasal surgery.
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14. |
- Thurin, Erik, et al.
(författare)
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Depression and ability to work after vestibular schwannoma surgery : a nationwide registry-based matched cohort study on antidepressants, sedatives, and sick leave
- 2021
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Ingår i: Acta Neurochirurgica. - : Springer Nature. - 0001-6268 .- 0942-0940. ; 163:8, s. 2225-2235
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundIn patients with vestibular schwannomas (VS), tumor control is often achieved, and life expectancy is relatively good. The main risks of surgical treatment are hearing loss and facial nerve function. The occurrence of mood and sleeping disorders in relation to surgery is an important aspect of health that has rarely been studied. Similarly, only limited data exist on the rate of sick leave for patients with VS. In this nationwide registry-based study, we define the use of antidepressants and sedatives and the sick leave pattern before and after VS surgery.MethodsAdult patients with histopathologically verified VS were identified in the Swedish Brain Tumor Registry (SBTR) and clinical data were linked to relevant national registries after assigning five matched controls to each patient. We studied patterns of dispensed antidepressants and sedative drugs as well as patterns of sick leave compared to respective controls at 2 years before and 2 years following surgery.ResultsWe identified 333 patients and 1662 matched controls. The rate of antidepressant use was similar between patients and controls 2 years before surgery (6.0% vs 6.3%) and 2 years after surgery (10.1% vs 7.5%). The rate of sedative use was also similar 2 years before surgery (3.9% vs 4.3%) and 2 years after surgery (4.8% vs 5.3%). The rate of sick leave was similar at baseline between patients and controls, but at 2 years after surgery, 75% of patients vs 88% of controls (p < 0.01) had no registered sick leave. Long-term sick leave after surgery was predicted by use of sedatives (OR 0.60, 95% CI 0.38–0.94, p = 0.03), more preoperative sick leave (OR 0.91, 95% CI 0.89–0.93, p < 0.001), and new-onset neurological deficits after surgery (OR 0.42, 95% CI 0.24–0.76, p = 0.004).ConclusionThis nationwide study shows no significant differences in the use of antidepressants and sedatives between patients and controls, while the rate of postoperative sick leave was higher in patients than in controls after VS surgery. Our findings underpin the importance of avoiding surgical sequelae and facilitating return to normal professional life.
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15. |
- Stiernman, Mia, et al.
(författare)
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Scores of the cleft hearing, appearance and speech questionnaire (CHASQ) in Swedish participants with cleft lip and/or cleft palate and a control population
- 2021
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Ingår i: The Cleft Palate-Craniofacial Journal. - Lawrence : SAGE Publications. - 1055-6656 .- 1545-1569. ; 58:3, s. 347-353
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The primary aim of this study was to investigate whether there was any difference in scores of the Cleft Hearing, Appearance and Speech Questionnaire (CHASQ) between patients with cleft lip and/or cleft palate (CL/P) and a control population. The second aim was to compare CL/P and control population scores in this study with a British norm CL/P population.DESIGN: Single-site, cross-sectional study with an age-matched control population.SETTING: Participants were recruited from a hospital, a school, and a sports club. They answered the CHASQ in the hospital or at home.PARTICIPANTS: Sixty-four participants with CL/P (7-19 years of age) and a control population of 56 participants without CL/P (9-20 years of age).MAIN OUTCOME MEASURE: CHASQ.RESULTS: There was no statistically significant difference in satisfaction with cleft-related features between the CL/P and the control population. Participants with CL/P were significantly more satisfied with non-cleft-related features than the control population. Cleft Hearing, Appearance and Speech Questionnaire scores were also similar to earlier established British normative data of a CL/P population.CONCLUSION: The results indicated that children and young people with CL/P were as satisfied with their appearance, hearing, and speech as children and young people without CL/P. Swedish CHASQ scores were also similar to British scores.
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16. |
- Van Eyken, Els, et al.
(författare)
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Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
- 2007
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Ingår i: Journal of Medical Genetics. - : B M J Group. - 0022-2593 .- 1468-6244. ; 44:9, s. 570-578
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundAge‐related hearing impairment (ARHI) is the most common sensory impairment in older people, affecting 50% of those aged 80 years. The proportion of older people is increasing in the general population, and as a consequence, the number of people affected with ARHI is growing. ARHI is a complex disorder, with both environmental and genetic factors contributing to the disease. The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4.MethodsIn the present study, the association between ARHI and polymorphisms in genes that contribute to the defence against reactive oxygen species, including GSTT1, GSTM1 and NAT2, was tested. Samples originated from seven different countries and were combined into two test population samples, the general European population and the Finnish population. Two distinct phenotypes for ARHI were studied, Zlow and Zhigh, representing hearing in the low and high frequencies, respectively. Statistical analysis was performed for single polymorphisms (GSTM1, GSTT1, NAT2*5A, NAT2*6A, and NAT2*7A), haplotypes, and gene–environment and gene–gene interactions.ResultsWe found an association between ARHI and GSTT1 and GSTM1 in the Finnish population sample, and with NAT2*6A in the general European population sample. The latter finding replicates previously published data.ConclusionAs replication is considered the ultimate proof of true associations in the study of complex disorders, this study provides further support for the involvement of NAT2*6A in ARHI.
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17. |
- Malmberg, Stefan, 1979, et al.
(författare)
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Acute sore throat and Fusobacterium necrophorum in primary healthcare: a systematic review and meta-analysis.
- 2021
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:6
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Forskningsöversikt (refereegranskat)abstract
- The main objective of this review was to describe and quantify the association between Fusobacterium necrophorum (FN) and acute sore throat in primary healthcare (PHC).In this systematic review and meta-analysis, we searched Scopus and PubMed for case-control studies reporting the prevalence of FN in patients attending primary care for an uncomplicated acute sore throat as well as in healthy controls. Only studies published in English were considered. Publications were not included if they were case studies, or if they included patients prescribed antibiotics before the throat swab, patients with a concurrent malignant disease, on immunosuppression, having an HIV infection, or patients having another acute infection in addition to a sore throat. Inclusion criteria and methods were specified in advance and published in PROSPERO. The primary outcome was positive etiologic predictive value (P-EPV), quantifying the probability for an association between acute sore throat and findings of FN in the pharynx. For comparison, our secondary outcome was the corresponding P-EPV for group A Streptococcus (GAS).PubMed and Scopus yielded 258 and 232 studies, respectively. Removing duplicates and screening the abstracts resulted in 53 studies subsequently read in full text. For the four studies of medium to high quality included in the meta-analysis, the cumulative P-EPV regarding FN was 64% (95% CI 33% to 83%). GAS, based on data from the same publications and patients, yielded a positive EPV of 93% (95% CI 83% to 99%).The results indicate that FN may play a role in PHC patients with an acute sore throat, but the association is much weaker compared with GAS.
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18. |
- Hansson, Kristina, et al.
(författare)
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Can a 'single hit' cause limitations in language development? A comparative study of Swedish children with hearing impairment and children with specific language impairment.
- 2007
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Ingår i: International Journal of Language & Communication Disorders. - : Wiley. - 1368-2822 .- 1460-6984. ; 42:3, s. 307-323
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Tidskriftsartikel (refereegranskat)abstract
- Studies of language in children with mild-to-moderate hearing impairment ( HI) indicate that they often have problems in phonological shortterm memory (PSTM) and that they have linguistic weaknesses both in vocabulary and morphosyntax similar to children with specific language impairment (SLI). However, children with HI may be more likely than children with SLI to acquire typical language skills as they get older. It has been suggested that the more persisting problems in children with SLI are due to a combination of factors: perceptual, cognitive and/or linguistic. Aims: The main aim of this study was to explore language skills in children with HI in comparison with children with SLI, and how children with both HI and language impairment differ from those with non-impaired spoken language skills. Methods & Procedures: PSTM, output phonology, lexical ability, receptive grammar and verb morphology were assessed in a group of children with mild-to-moderate HI ( n=11) and a group of children with SLI (n=12) aged 5 years 6 months to 9 years 0 months. Outcomes & Results: The HI group tended to score higher than the SLI group on the language measures, although few of the differences were significant. The children with HI had their most obvious weaknesses in PSTM, vocabulary, receptive grammar and inflection of novel verbs. The subgroup of children with HI ( five out of 10) who also showed evidence of grammatical output problems was significantly younger than the remaining children with HI. Correlation analysis showed that the language variables were not associated with age, whereas hearing level was associated with PSTM. Conclusions: Children with HI are at risk for at least a delay in lexical ability, receptive grammar and grammatical production. The problems seen in the HI group might be explained by their low-level perceptual deficit and weak PSTM. For the SLI group the impairment is more severe. From a clinical perspective an important conclusion is that the language development in children with even mild-to-moderate HI deserves attention and support.
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20. |
- Willadsen, E., et al.
(författare)
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Inter-rater reliability in classification of canonical babbling status based on canonical babbling ratio in infants with isolated cleft palate randomised to Timing of Primary Surgery for Cleft Palate (TOPS)
- 2023
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Ingår i: Clinical Linguistics & Phonetics. - : Informa UK Limited. - 0269-9206 .- 1464-5076. ; 37:1, s. 77-98
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Tidskriftsartikel (refereegranskat)abstract
- Canonical babbling (CB) is commonly defined as present when at least 15% of all syllables produced are canonical, in other words a canonical babbling ratio (CBR) >= 0.15. However, there is limited knowledge about inter-rater reliability in classification of CB status based on CBR and inter-rater differences in assessment of CBR. We investigated inter-rater reliability of experienced Speech Language Therapists (SLTs) on: classification of CB status based on CBR >= 0.15, CBRs and the total number of syllables per infant used to calculate CBR. Each infant (n = 484) was video-recorded at a clinical site in play interaction with their parent as part of the randomised controlled trial Timing of Primary Surgery for Cleft Palate. Each recording was subsequently assessed by three independent SLTs, from a pool of 29 SLTs. They assessed the recordings in real time. The three assessing SLTs agreed in classification of CB status in 423 (87.4%) infants, with higher complete agreement for canonical (91%; 326/358) than non-canonical (77%; 97/126). The average difference in CBR and total number of syllables identified between the SLT assessments of each infant was 0.12 and 95, respectively. This study provided new evidence that one trained SLT can reliably classify CB status (CBR >= 0.15) in real time when there is clear distinction between the observed CBR and the boundary (0.15); however, when the observed CBR approaches the boundary multiple SLT assessments are beneficial. Thus, we recommend to include assessment of inter-rater reliability, if the purpose is to compare CBR and total syllable count across infants or studies.
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21. |
- Gustafsson, Joakim Körner, et al.
(författare)
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Voice use in daily life studied with a portable voice accumulator in individuals with Parkinson’s disease and matched healthy controls
- 2019
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Ingår i: Journal of Speech, Language and Hearing Research. - 1092-4388 .- 1558-9102. ; 62:12, s. 4324-4334
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The purpose of this work was to study how voice use in daily life is impacted by Parkinson’s disease (PD), specifically if there is a difference in voice sound level and phonation ratio during everyday activities for individuals with PD and matched healthy controls. A further aim was to study how variations in environmental noise impact voice use. Method: Long-term registration of voice use during 1 week in daily life was performed for 21 participants with PD (11 male, 10 female) and 21 matched healthy controls using the portable voice accumulator VoxLog. Voice use was assessed through registrations of spontaneous speech in different ranges of environmental noise in daily life and in a controlled studio recording setting. Results: Individuals with PD use their voice 50%-60% less than their matched healthy controls in daily life. The difference increases in high levels of environmental noise. Individuals with PD used an average voice sound level in daily life that was 8.11 dB (female) and 6.7 dB (male) lower than their matched healthy controls. Difference in mean voice sound level for individuals with PD and controls during spontaneous speech during a controlled studio registration was 3.0 dB for the female group and 4.1 dB for the male group. Conclusions: The observed difference in voice use in daily life between individuals with PD and matched healthy controls is a 1st step to objectively quantify the impact of PD on communicative participation. The variations in voice use in different levels of environmental noise and when comparing controlled and variable environments support the idea that the study of voice use should include methods to assess function in less controlled situations outside the clinical setting.
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22. |
- Hallberg, Lillemor R-M, 1942, et al.
(författare)
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Facing a moral dilemma--introducing a dental care insurance within the public dental service.
- 2012
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Ingår i: Swedish dental journal. - : Swedish dental journal. - 0347-9994. ; 36:3, s. 149-56
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Tidskriftsartikel (refereegranskat)abstract
- Through the reform entitled "Dental care insurance-dental care at a fixed price", patients are offered a dental insurance, a capitation plan, that ensures that they can visit the dentist regularly during a period of three years at a fixed price per month (Frisktandvård).This insurance may be offered to all patients. The aim of this study was to generate a theory explaining the main concern for the staff at the public dental service when they have to introduce and advocate dental care insurance to patients. Interview data from 17 persons, representing different professions within the public dental service, were collected and analyzed simultaneously in line with guidelines for grounded theory. The results indicated that dentists/dental hygienists experienced several difficult standpoints concerning the implementation of the dental insurance, somewhat of a moral dilemma. The staff generally had a "cautiously positive attitude" to the forthcoming dental care insurance, but had perceptions how and when the patients should be offered the insurance and what that may mean to the clinic.The respondents reflected about the economic aspects for the clinic and how the oral health may be affected over time for the patients.
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23. |
- Hartel, Bas P., et al.
(författare)
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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
- 2016
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Ingår i: Hearing Research. - Amsterdam, Netherlands : Elsevier. - 0378-5955 .- 1878-5891. ; 339, s. 60-68
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.Design: A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.Results: Cross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.Conclusions: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.
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24. |
- Hoff, Maria, 1981, et al.
(författare)
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Improved hearing in Swedish 70-year olds—a cohort comparison over more than four decades (1971–2014)
- 2018
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Ingår i: Age and Ageing. - : Oxford University Press (OUP). - 0002-0729 .- 1468-2834. ; 47:3, s. 437-444
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Tidskriftsartikel (refereegranskat)abstract
- Objective the world population is ageing rapidly. In light of these demographic changes, it is of interest to generate current data regarding the prevalence and characteristics of age-related hearing loss. The purpose of this study was to investigate hearing acuity and the prevalence of hearing loss in a contemporary age-homogenous cohort of old adults, and to assess secular trends in hearing function during the last half-century (1971–2014). Methods we performed a prospective population-based cohort comparison study of unscreened populations. As part of a geriatric population-based study (H70), a new cohort of 70-year olds (n = 1,135) born in 1944 was tested with computerised automated pure-tone audiometry. The hearing thresholds were compared to three earlier born cohorts of 70-year olds, born in 1901–02 (n = 376), 1906–07 (n = 297) and 1922 (n = 226), respectively. Results significant improvements in median pure-tone thresholds were seen at several frequencies in both men (range: 5–20 dB, P < 0.01) and women (range: 5–10 dB, P < 0.01). When investigating the effect of birth cohort on hearing in a linear regression, significant trends were found. Men’s hearing improved more than women’s. The prevalence of hearing loss declined in the study period (1971–2014) from 53 to 28% for men and 37 to 23% for women (P < 0.01). Conclusions these results indicate that the hearing acuity in Swedish 70-year olds has improved significantly over more than four decades. The largest improvements were seen at 4–6 kHz in men, possibly reflecting a decrease in occupational noise exposure. Further studies are required to pinpoint the reasons for improved hearing-health among older people.
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25. |
- Järvholm, Kajsa, et al.
(författare)
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Cognitive functioning in adolescents with severe obesity undergoing bariatric surgery or intensive non-surgical treatment in Sweden (AMOS2): a multicentre, open-label, randomised controlled trial
- 2024
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Ingår i: ECLINICALMEDICINE. - : ELSEVIER. - 2589-5370. ; 70
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Tidskriftsartikel (refereegranskat)abstract
- Background Severe obesity during childhood is associated with cognitive deficits. Studies in adults have suggested improvements in executive functioning and memory after bariatric surgery. Our aim was to explore changes in cognitive function in adolescents over two years after bariatric surgery or intensive non-surgical treatment. Methods The Adolescent Morbid Obesity Surgery 2 (AMOS2) is a multicentre, open-label, randomised controlled trial in which adolescents (aged 13-16 years) with severe obesity (defined as body mass index (BMI) >= 35 kg/m(2)) at three specialised obesity centres in Sweden, were randomly assigned to receive bariatric surgery or intensive non-surgical treatment. Herein we report the results of the prespecified exploratory endpoint of change in cognitive functioning. Inclusion in AMOS2 required Tanner pubertal stage >= 3, previous participation in lifestyle obesity treatment for at least one year, and passed assessment form a paediatrician and a paediatric psychologist. Adolescents with severe intellectual disability or other severe, pervasive developmental disorder were excluded. Participants underwent baseline assessment of general intellectual ability, executive functioning, and memory before randomisation. Tests were administrated by clinical psychologists and repeated at one- and two-year follow-up timepoints. Differences in means between groups during follow-up are provided with confidence intervals. The trial is registered at ClinicalTrials.gov, NCT02378259. Findings Between October 28 2015 and June 7 2017, 46 adolescents (74% girls), with a mean age of 15.8 (+/- 0.92) years and a mean BMI of 42.8 (+/- 5.4) kg/m(2), were included and randomised (23 to bariatric surgery and 23 to intensive non-surgical treatment). At baseline 23/46 (50%) of the adolescents had general intellectual functioning classified as borderline or below. For 15/18 (83%) aspects of cognitive functioning, no significant differences in change over two years were identified between groups; Immediate (average difference during follow-up 1.0 [95% CI: -2.6 to 4.6]) and Delayed (0.5 [95% CI: -0.6 to 1.6]) Verbal Recall, Category Fluency (1.1 [95% CI: -1.6 to 3.8]) and Switching (1.5 [95% CI: -0.0 to 2.9]), Number (-6.0 [95% CI: -12.3 to 0.3]) and Letter (0.1 [95% CI: -5.2 to 5.3]) Sequencing, Number-Letter Switching (-10.3 [95% CI: -26.4 to 5.8]), Motor Speed (-8.3 [95% CI: -17.5 to 0.9]), Colour Naming (-1.9 [95% CI: -4.2 to 0.3]), Inhibition (-3.6 [95% CI: -9.6 to 2.5]), Inhibition Switching (-6.7 [95% CI: -15.3 to 1.9]), Mazes (-0.5 [95% CI: -4.9 to 3.9]), Digit Span Forward (0.1 [95% CI: -0.6 to 0.9 ]) and Backward (0.6 [95% CI: -0.4 to 1.6 ]), and Estimated IQ (0.4 [95% CI: -3.9 to 4.8]; all p > 0.05). Three sub-tests assessing fundamental cognitive skills improved more over two years in operated adolescents than in intensive non-surgical treatment; Letter Fluency (average difference during follow-up 3.8 [95% CI: 0.1-7.5]; p = 0.046), Visual Scanning (-6.5 [95% CI: -11.6 to -1.5]; p = 0.011), and Word Reading (-1.9 [95% CI: -3.3 to -0.4]; p = 0.011). Interpretation In contrast to non-randomised studies in adults, we could not demonstrate an association of bariatric surgery and its accompanying significant weight loss with overall greater improvement in executive functions and memory in adolescents over two years compared with a non-surgical group without weight loss. However, lack of statistical power is a potential limitation. The clinical relevance of greater improvements in basic cognitive skills needs to be explored. Funding Sweden's innovation agency (VINNOVA), Swedish Research Council, Joanna Cocozza foundation for paediatric research, The Skane University Hospital Psychology Research and Development Grant, Tore Nilsson's Foundation, SUS Foundations and Donations, and Mary von Sydow's Foundation. (c) 2024 The Author(s). Published by Elsevier Ltd.
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