| 61. |
- Uusimaa, Johanna, et al.
(författare)
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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
- 2007
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Ingår i: Annals of Neurology. - : John Wiley & Sons. - 0364-5134 .- 1531-8249. ; 62:3, s. 278-287
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland.METHODS: Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blood DNA from 522 selected children was analyzed for 3243A>G. Children with the mutation were clinically examined. Information on health history before the age of 18 years was collected from previously identified adult patients with 3243A>G. Mutation segregation analysis in buccal epithelial cells was performed in mothers with 3243A>G and their children whose samples were analyzed anonymously.RESULTS: Eighteen children were found to harbor 3243A>G in a population of 97,609. A minimum estimate for the prevalence of 3243A>G was 18.4 in 100,000 (95% confidence interval, 10.9-29.1/100,000). Information on health in childhood was obtained from 37 adult patients with 3243A>G. The first clinical manifestations appearing in childhood were sensorineural hearing impairment, short stature or delayed maturation, migraine, learning difficulties, and exercise intolerance. Mutation analysis from 13 mothers with 3243A>G and their 41 children gave a segregation rate of 0.80. The mothers with heteroplasmy greater than 50% tended to have offspring with lower or equal heteroplasmy, whereas the opposite was true for mothers with heteroplasmy less than or equal to 50% (p = 0.0016).INTERPRETATION: The prevalence of 3243A>G is relatively high in the pediatric population, but the morbidity in children is relatively low. The random genetic drift model may be inappropriate for the transmission of the 3243A>G mutation.
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| 62. |
- Holmberg, Johan
(författare)
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Dizziness and fear of falling: A behavioural and physiological approach to Phobic Postural Vertigo
- 2006
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Dizziness is a common problem and it often co-exists with anxiety. Level of anxiety is the best predictor of handicap for dizzy patients. There is diagnostic controversy and few treatment programs for such patients. These patients can be labeled as panic disorder with agoraphobia or by the concept of Phobic Postural Vertigo which is characterized by dizziness or imbalance in standing or walking despite normal clinical balance tests and avoidance behaviours. This thesis aimed to investigate the benefits and shortcomings of the concept of Phobic Postural Vertigo and to develop treatment methods. We compared posturography results of patients with Phobic Postural Vertigo with healthy subjects. Patients with Phobic Postural Vertigo had more sway in frequencies above 0.1 Hz. Vibratory proprioceptive stimulation increased differences between populations. Patients were less able to use vision to compensate for vibratory stimulation. We compared results in questionnaires for patients with Phobic Postural Vertigo with unselected patients with dizziness. Patients with Phobic Postural Vertigo, and especially women, experienced higher degree of handicap, anxiety and dizziness severity. During cognitive behavioural therapy for those patients it was found that a fear of falling was provoked by standing and by misinterpretation of spontaneous body sway. Patients restricted their body sway area by co-contracting postural muscles. It is hypothesized that this behaviour leads to muscular fatigue, pain problems and distorted proprioception. There are however also other factors behind patients dizziness. Treatment methods were developed, mainly targeting the misinterpretaton of spontaneous body sway, fear of falling and fear regulating postural responses including exposure to standing in specific situations. One group of patients with Phobic Postural Vertigo had Cognitive Behavioural Therapy while another group underwent a self treatment procedure. Patients who had the additional Cognitive Behavioural Therapy fared considerably better in degree of handicap, anxiety and depression. In a one year follow up, treatment results deteriorated to pre-treatment levels. Men seemed to benefit more from the treatment. Phobic Postural Vertigo is a relevant concept to describe the fear of falling and subsequent postural behaviours. As treatment results were not maintained future approaches might also includ physiotherapy and pharmacological treatment.
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| 63. |
- 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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| 64. |
- Ottosson, Sandra, 1981-, et al.
(författare)
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Weight and body mass index in relation to irradiated volume and to overall survival in patients with oropharyngeal cancer: a retrospective cohort study
- 2014
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Ingår i: Radiation Oncology. - 1748-717X. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Background: Weight loss is a common problem in patients with Squamous Cell Carcinoma of the Head and Neck (SCCHN) treated with radiotherapy (RT). The aims of the present study were to determine if treated volume (TV), as a measure of the radiation dose burden, can predict weight loss in patients with oropharyngeal cancer and to analyze weight loss and body mass index (BMI) in the same patient group in relation to 5-year overall survival. Methods: The ARTSCAN trial is a prospective, randomized, multicenter trial in patients with SCCHN. Nutritional data from the ARTSCAN trial were analyzed retrospectively using univariate and multivariate statistical methods based on information on percentage weight loss from the start of RT up to five months after the termination of RT (study cohort 1, n = 232) and information on patients' BMI at the start of RT (study cohort 2, n = 203). TV was defined as the volume of the patient receiving at least 95% of the prescribed dose. TV64.6 (Gy) encompasses macroscopic tumor and TV43.7 (Gy) elective lymph nodes of the neck. Results: TV64.6 Gy and TV43.7 Gy were both significantly correlated with higher weight loss up to five months after the termination of RT in study cohort 1 (p < 0.001 for both). BMI at the start of RT was shown to be a prognostic factor for 5-year overall survival in study cohort 2 but weight loss was not. The hazard ratios and 95% confidence intervals were 3.78 (1.46-9.75) and 2.57 (1.43-4.62) in patients with underweight and normal weight, respectively. Conclusions: TV can predict weight loss during RT in patients with oropharyngeal cancer regardless of clinical stage. A high BMI (>25 kg/m(2)) at the start of RT is positively associated with survival in patients with oropharyngeal cancer.
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| 65. |
- Millgård, Moa, et al.
(författare)
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Flow Glottogram Characteristics and Perceived Degree of Phonatory Pressedness
- 2016
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Ingår i: Journal of Voice. - : Elsevier BV. - 0892-1997 .- 1873-4588. ; 30:3, s. 287-292
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. Phonatory pressedness is a clinically relevant aspect of voice, which generally is analyzed by auditory perception. The present investigation aimed at identifying voice source and formant characteristics related to experts' ratings of phonatory pressedness. Study Design. Experimental study of the relations between visual analog scale ratings of phonatory pressedness and voice source parameters in healthy voices. Methods. Audio, electroglottogram, and subglottal pressure, estimated from oral pressure during /p/ occlusion, were recorded from five female and six male subjects, each of whom deliberately varied phonation type between neutral, flow, and pressed in the syllable /pae/, produced at three loudness levels and three pitches. Speech-language pathologists rated, along a visual analog scale, the degree of perceived phonatory pressedness in these samples. Results. The samples were analyzed by means of inverse filtering with regard to closed quotient, dominance of the voice source fundamental, normalized amplitude quotient, peak-to-peak flow amplitude, as well as formant frequencies and the alpha ratio of spectrum energy above and below 1000 Hz. The results were compared with the rating data, which showed that the ratings were closely related to voice source parameters. Conclusions. Approximately, 70% of the variance of the ratings could be explained by the voice source parameters. A multiple linear regression analysis suggested that perceived phonatory pressedness is related most closely to subglottal pressure, closed quotient, and the two lowest formants.
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| 66. |
- Hoff, Maria, 1981, et al.
(författare)
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Hearing loss and cognitive function in early old age: comparing subjective and objective hearing measures.
- 2023
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Ingår i: Gerontology. - : S. Karger AG. - 1423-0003 .- 0304-324X. ; 69:6, s. 694-705
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Tidskriftsartikel (refereegranskat)abstract
- Population-based research has consistently shown that people with hearing loss are at greater risk of cognitive impairment. We aimed to explore the cross-sectional association of both subjective and objective hearing measures with global and domain-specific cognitive function. We also examined the influence of hearing aid use on the relationship.A population-based sample (n=1105, 52% women) of 70-year-olds that were representative of the inhabitants of the city of Gothenburg, Sweden completed a detailed cognitive examination, pure-tone audiometry and a questionnaire regarding perceived hearing problems. A subsample (n=247, 52% women) also completed a test of speech-recognition-in-noise (SPRIN). Multiple linear regression analyses were conducted to explore the association of hearing with cognitive function adjusting for sex, education, cardiovascular factors, and tinnitus.Global cognitive function was independently associated with the better ear pure-tone average across 0.5-4 kHz (PTA4, β=-0.13, 95% CI, -0.18, -0.07), the better ear SPRIN score (β=0.30, 95% CI, 0.19, 0.40), but not with the self-reported hearing measure (β=-0.02, 95% CI, -0.07, 0.03). Both verbally loaded and non-verbally loaded tasks, testing a variety of cognitive domains, contributed to the association. Hearing aid users had better global cognitive function than non-users with equivalent hearing ability. The difference was only significant in the mild hearing loss category.In a population-based sample of 70-year-old persons without dementia, poorer hearing was associated with poorer global and domain-specific cognitive function, but only when hearing function was measured objectively and not when self-reported. The speech-in-noise measure showed the strongest association. This highlights the importance of including standardized hearing tests and controlling for hearing status in epidemiological geriatric research. More research is needed on the role that hearing aid use plays in relation to age-related cognitive declines.
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| 67. |
- Maier, Hannes, et al.
(författare)
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Consensus Statement on Bone Conduction Devices and Active Middle Ear Implants in Conductive and Mixed Hearing Loss
- 2022
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Ingår i: Otology and Neurotology. - : Lippincott, Williams & Wilkins. - 1531-7129 .- 1537-4505. ; 43:5, s. 513-529
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Tidskriftsartikel (refereegranskat)abstract
- Nowadays, several options are available to treat patients with conductive or mixed hearing loss. Whenever surgical intervention is not possible or contra-indicated, and amplification by a conventional hearing device (e.g., behind-the-ear device) is not feasible, then implantable hearing devices are an indispensable next option. Implantable bone-conduction devices and middle-ear implants have advantages but also limitations concerning complexity/invasiveness of the surgery, medical complications, and effectiveness. To counsel the patient, the clinician should have a good overview of the options with regard to safety and reliability as well as unequivocal technical performance data. The present consensus document is the outcome of an extensive iterative process including ENT specialists, audiologists, health-policy scientists, and representatives/technicians of the main companies in this field. This document should provide a first framework for procedures and technical characterization to enhance effective communication between these stakeholders, improving health care.
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| 68. |
- Jin, Yuesheng, et al.
(författare)
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Clonal chromosome abnormalities in premalignant lesions of the skin.
- 2002
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Ingår i: Cancer Genetics and Cytogenetics. - 0165-4608. ; 136:1, s. 48-52
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Tidskriftsartikel (refereegranskat)abstract
- Two lesions, actinic keratosis (AK) and squamous cell carcinoma in situ (CIS), are believed to be precursors of squamous cell carcinoma (SCC) of the skin. These lesions can serve as an excellent model system for studying genetic changes associated with the inception of skin SCC. In the present study, five such lesions of the skin, three AKs and two AK+CIS, from three patients were short-term cultured and analyzed cytogenetically. One of the patients (case 3) had also an SCC in addition to three premalignant lesions. All lesions, but one, showed clonal karyotypic abnormalities. The recurrent changes identified were numerical, that is, +7 and +20. The structural rearrangements found in three AK were different, but it could be noted that the distal part of the long arm of chromosome 4 was involved in two AK and the SCC of case 3A. It was also interesting that chromosome 1 participated in structural rearrangements in three AK with band 1p31 being involved in two tumors. The karyotypic profile of these lesions is compared with that of skin SCC; it turns out that the general patterns are different in the sense that the SCC more often have complex karyotypes and display unbalanced aberrations involving the centromeric regions. Some karyotypic similarities between the SCC and their precursors are revealed. The fact that the structural rearrangements involving chromosomal band 3p13 and the centromeric region of chromosome 3 in AK are common features for many types of malignant tumors, including skin SCC, indicates that these changes are early genetic events associated with malignant transformation.
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| 69. |
- Shen, Yue, 1981-
(författare)
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Plasminogen : a novel inflammatory regulator that promotes wound healing
- 2013
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The plasminogen activator (PA) system has been shown to be intimately involved in wound healing. However, the role of this system in the initiation and resolution of inflammation during healing process remained to be determined. The aims of this thesis were to investigate the molecular mechanism underlying the interaction between the PA system and the inflammatory system during wound healing and to explore the therapeutic potential of plasminogen in various wound-healing models.The role of plasminogen in the inflammatory phase of the healing process of acute and diabetic wounds was studied first. Our data showed that administration of additional plasminogen to wild-type mice accelerates the healing of acute wounds. After injury, both endogenous and exogenous plasminogen are bound to inflammatory cells and are transported to the wound site, which leads to activation of inflammatory cells. In diabetic db/db mice, wound-specific accumulation of plasminogen does not take place and the inflammatory response is impaired. However, when additional plasminogen is injected, plasminogen accumulates in the wound, the inflammatory response is enhanced, the signal transduction cascade is activated and the healing rate is significantly increased. These results indicate that administration of plasminogen may be a novel therapeutic strategy to treat different types of wounds, especially chronic wounds in diabetes.The role of plasminogen at the later stage of wound healing was also studied in plasminogen-deficient mice. Our data showed that even if re-epithelialization is achieved in these mice, a prolonged inflammatory phase with abundant neutrophil accumulation and persistent fibrin deposition is observed at the wound site. These results indicate that plasminogen is also essential for the later phases of wound healing by clearing fibrin and resolving inflammation.The functional role of two physiological PAs during wound healing was further studied in a tympanic membrane (TM) wound-healing model. Our data showed that the healing process was clearly delayed in urokinase-type PA (uPA)-deficient mice but not in tissue-type PA (tPA)-deficient mice. Less pronounced keratinocyte migration, abundant neutrophil accumulation and persistent fibrin deposition were observed in uPA-deficient mice. These results indicate that uPA plays a central role in the generation of plasmin during the healing of TM perforations.Finally the therapeutic potential of plasminogen in the TM wound-healing model was studied. Our data showed that local injection of plasminogen restores the ability to heal TM perforations in plasminogen-deficient mice in a dose-dependent manner. Plasminogen supplementation also potentiates healing of acute TM perforations in wild-type mice, independent of the administration method used. A single local injection of plasminogen in plasminogen-deficient mice can initiate healing of chronic TM perforations resulting in a closed TM with a continuous but rather thick outer keratinocyte layer. Three plasminogen injections lead to a completely healed TM with a thin keratinizing squamous epithelium covering a connective tissue layer that can start to reorganize and further mature to its normal appearance. In conclusion, our results suggest that plasminogen is a promising drug candidate for the treatment of chronic TM perforations in humans. Taken together, our data indicate that plasminogen is a novel inflammatory regulator that promotes wound healing.
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| 70. |
- Alfredson, Håkan, et al.
(författare)
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Ultrasound- and doppler-Guided WALANT arthroscopic surgery for patellar tendinopathy with Partial Rupture in Elite Athletes : a 2-Year follow-up of a prospective case series
- 2024
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Ingår i: Medicina. - : MDPI. - 1010-660X .- 1648-9144. ; 60:4
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Tidskriftsartikel (refereegranskat)abstract
- Background and Objectives: Patellar tendinopathy is difficult to treat, and when combined with partial rupture, there are additional challenges. The aim of this study was to evaluate the subjective outcome and return-to-sport status after ultrasound (US)- and colour doppler (CD)-guided wide awake local anaesthetic no tourniquet (WALANT) arthroscopic shaving in elite athletes.Material and Methods: Thirty Swedish and international elite athletes (27 males) with a long duration (>1 year) of persistent painful patellar tendinopathy in 35 patellar tendons, not responding to non-surgical treatment, were included. All patients were treated with the same protocol of arthroscopic shaving, including bone removal and debridement of partial rupture, followed by at least 3 months of structured rehabilitation. The VISA-P score and a study-specific questionnaire evaluating physical activity level and subjective satisfaction with the treatment were used for evaluation.Results: At the 2-year follow-up (mean 23, range 8–38 months), 25/30 patients (29/35 tendons) were satisfied with the treatment result and had returned to their pre-injury sport. The mean VISA-P score increased from 37 (range 7–69) before surgery to 80 (range 44–100) after surgery (p < 0.05). There was one drop-out (one tendon). There were no complications.Conclusions: US- and CD-guided WALANT arthroscopic shaving for persistent painful patellar tendinopathy, including bone removal and debridement of partial rupture, followed by structured rehabilitation showed good clinical results in the majority of the elite-level athletes.
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