| 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. |
- Wilms, Torben, 1973-
(författare)
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Squamous cell carcinoma of the head and neck, focusing on Epstein-Barr-virus, programmed cell death ligand 1 and serum lipoproteins
- 2021
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background: Squamous cell carcinoma of the head and neck (SCCHN)comprises a large group of tumours including the oral cavity and nasopharyngealarea, and typically affects older males in association with alcohol/tobacco usage.Within the oral cavity, the mobile tongue is the most common site for tumourdevelopment. The incidence of squamous cell carcinoma of the oral tongue(SCCOT) is increasing in younger people, which has been suggested to associatewith other than the traditional risk factors for this disease. Two common humanoncogenic viruses, human papillomavirus (HPV) and Epstein-Barr virus (EBV)are connected to certain types of SCCHN, in oropharynx and nasopharynxrespectively. The receptor programmed cell death 1 (PD)-1 and its ligandprogrammed cell death ligand 1 (PD-L1) are particularly relevant in immunecheckpoint control, and elevated levels have been seen in various cancer types. Alink between hyperlipidemia and cancer risk has previously been suggested. Theaim of this thesis was to investigate risk factors and prognostic features forSCCHN, by focusing on EBV, PD-L1 and serum lipoproteins.Materials and methods: Ninety-eight cases of SCCOT and 15 cases of tonsillarsquamous cell carcinoma were examined for the presence of EBV-encodedribonucleic acids (EBERs), EBV deoxyribonucleic acid (DNA) and the proteinEBV-encoded nuclear antigen-1 (EBNA-1), using in situ hybridisation,polymerase chain reaction (PCR) and immunohistochemistry respectively. Onehundred and one cases of SCCOT were examined for expression of PD-L1 intumour and surrounding immune cells using Ventana SP263immunohistochemistry assay and a QuickScore (QS) method. An estimation oftumour-infiltrating immune cells was also performed in 25 of the patients.Circulating levels of PD-L1 were measured using an electrochemiluminescenceassay platform in serum from 30 patients. Finally, serum samples from 106patients and 28 healthy controls were investigated for levels of total cholesterol,low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglycerides andlipoprotein(a).Results: In the first study, using an in situ hybridisation kit no EBER transcriptswere detected. No EBV DNA was identified with PCR analysis, andimmunohistochemistry for EBNA-1 was also negative. In the second study, highertumour cell PD-L1 levels were found in females than males (p = 0.019). Forpatients with low PD-L1 in tumour cells, better survival was shown in males thanfemales (overall survival p = 0.021, disease-free survival p = 0.020). Tumourinfiltrating natural killer (NK) T cells, immature dendritic cells (DCs) and M1macrophages correlated positively with tumour cell PD-L1 (p < 0.05). In the laststudy, the only lipoprotein showing significant difference in concentration iiibetween healthy controls and patients was HDL (p = 0.012). Kaplan-Meiersurvival curves showed that patients with high levels of total cholesterol or LDLhad better survival than patients with normal levels (p = 0.028 and p = 0.007respectively). Adjusting for the effects of age at diagnosis, TNM stage and weightchange, multivariate Cox regression models showed LDL to be an independentprognostic factor for both overall (p = 0.010) and disease-free survival (p =0.018).Conclusion: We excluded EBV as a potential player in SCCOT in both old andyoung patients and highlight the importance of appropriate controls for EBVencoded RNA in-situ hybridization (EBER-ISH) when investigating EBV inhuman diseases. Regarding PD-L1, our data supported the significance of genderon tumour cell PD-L1 expression and demonstrated combined effects of genderand PD-L1 levels on clinical outcome in patients with SCCOT. Data also indicatedthe involvement of specific immune cell types in PD-L1-regulated immuneevasion. Looking at serum lipoproteins, we found high LDL levels to be beneficialfor survival outcome in patients with SCCHN. Furthermore, the use of cholesterollowering medicine for prevention or management of SCCHN needs to be carefullyevaluated.
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| 4. |
- Wahlqvist, Moa, 1979-
(författare)
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Health and People with Usher syndrome
- 2015
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The present thesis concerns people with Usher syndrome (USH) and their health. People with USH have a congenital hearing loss of various degrees and an eye disease with a progressive course; for some, the balance is also affected. Three clinical groups have been identified 1, 2 and 3, and 13 genes have currently been identified. USH is the most common cause of deafblindness. Clinical knowledge and the limited research that exists have shown that people with deafblindness can experience difficulties in everyday life. Depression, anxiety and social withdrawal have been described.The general aim of the present thesis was to describe the health of people with USH. The empirical material employed was based on an extensive survey in which people with USH answered two questionnaires concerning health, anxiety, depression, social trust, work, health-care, financial situation, and alcohol and drug use. The focus of the present thesis is on general health, physical health and psychological health, social trust and finance. Three studies in the present theses focus on USH1, 2 and 3, respectively; finally, the fourth study provides an in-group comparison of people with USH. The results of studies I and III are compared with a crosssection of the Swedish population. The results revealed poor physical and psychological health, a lack of social trust and a strained financial situation regardless of clinical diagnosis. The discussion stresses the importance of taking a biopsychosocial approach when describing the health of people with USH, in which previous research is lacking. Additional research should focus on the mechanisms at different levels that affect people with USH and their health from a life- course perspective. Furthermore, research should include a salutogenic perspective to explore the resources and strengths of people with USH.
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| 5. |
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Proceedings from the Second International Interdisciplinary Conference on Perspectives and Limits of Dialogism in Mikhail Bakhtin, 3-5 June, 2009
- 2010
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Proceedings (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- (Preface) This conference focused on the core of Bakhtin’s theory, which concerns dialogue and dialogicality. The conference themes reflected his notion that the “I” and the “self”, the “you” and the “other” are embedded in each other so that each affects the other and as a whole they create a centrifugal force around which communication and life circle. The choice of the two-faced Janus figure as the symbol of the conference reflects the inward and outward aspects of communication’s inherent dialogue and dialogicality. As an ancient Roman god of beginnings and doorways, of the rising and setting sun, looking in opposite directions, Janus has been associated with polarities, that is, seeing different and contrasting aspects and characteristics. As a metaphor it describes Bakhtin’s view on dialogues and dialogicality within or between “selves” and “others”. As a metaphorical symbol it captured the intent, purpose and outcome of the conference as reflected in this collection of papers.
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| 6. |
- Calon, Tim, et al.
(författare)
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Multimodal analysis of the tissue response to a bone-anchored hearing implant. : 11.Calon TGA, Johansson ML, Omar O, Shah FA, Budding D, Trobos M, Thomsen P, Stokroos RJ, Palmquist
- 2019
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Ingår i: 2nd Politzer Society Meeting/2nd World Congress of Otology, 28 May - 1 June, 2019, Warsaw, Poland..
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 7. |
- Bruce, Barbro
(författare)
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Problems of language and communication in children; Identification and intervention
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis addresses identification and intervention of language and communication problems in children. The issue of identification is addressed in study I by investigating communicative ability in 18-month-old children, and in study II by exploring the prevalence of language and communication problems in children with complex problems, such as attention deficit hyperactivity disorder (ADHD). The issue of intervention is addressed in studies III and IV by analysing verbal interaction in conversations, in which one of the participants is a child with specific language impairment (SLI). Study III explores how dialogues between children with SLI and typically developing peers (TLD) representing the same age (age peers), and the same language level (language peers) respectively, differ with respect to responsiveness, assertiveness and reciprocity. Study IV investigates interactional style and elicitation strategies of speech/language pathologists (SLP) during intervention, and how these factors influence the child with SLI. The results from study I show that receptive skills and symbolic play at 18 months of age are significantly associated with language ability three years later. Study II, in which language skills in children with ADHD were explored, indicates that language ability plays an important role for all other aspects of children's development and behaviour, with the exception of motor skills. Use of language and language comprehension caused these children many more problems than structural aspects of language production. Furthermore, reading and writing problems were found to be very frequent. Study III shows that dialogues between children with SLI and TLD age peers are characterized by more responsiveness and topic coherence than dialogues between children with SLI and TLD language peers. However, the children with SLI were more assertive, i.e., introduced more topics, in dialogues with language peers. Study IV indicates that the children with SLI talked more and had a higher mean length of utterance (MLU) in the free conversational context, whereas the individually selected grammatical targets occurred more often in the training context. In the conversational context the SLPs linked, i.e., attended, more to the child's focus and gave more feedback, while in the training context the individually selected grammatical targets occurred more often and the children were more frequently asked to follow instructions. The results have important clinical implications. First; screening procedures at Child Health Care (CHC) centres should be recommended to focus on receptive language skills and play behaviour, and not only on size of vocabulary at 18 months of age. Second; language skills, in particular language comprehension, language use and literacy skills were found to cause children with ADHD problems, and should therefore be assessed. Third; it is of great value for children with SLI to be in mixed groups with peers representing different ages and language levels, and to avoid the risk of not being selected as playmates. Fourth; increased awareness of how interactional style and elicitation strategies influence the developing language skills in children with SLI can be used in intervention planning, depending on the goals of the specific intervention procedures for the individual child.
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| 8. |
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| 9. |
- 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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| 10. |
- 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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