Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective.

PURPOSE: The primary aim was to describe the similarities and differences among the general health, physical health, psychological health, social trust, and financial situations of people with Usher syndrome (USH) types 1, 2, and 3. A second aim was to explore whether age, gender, clinical diagnosis, visual field, visual acuity, and degree of hearing impairment were associated with the general health, physical health, psychological health, social trust, and financial situations of people with USH. METHODS: In this study, 162 people with USH living in Sweden were included, and all three types of the disease were represented. Data concerning vision, hearing, and genetics were retrieved from the Swedish Usher database. Group comparison using frequencies, χ2-tests and Kruskal-Wallis tests for group comparison were used. To examine the effect of independent variables on poor health outcomes, a logistic regression analysis was conducted. RESULTS: Problems with poor health, social trust, and finances were found for all three types; however, more similarities than differences were found. The results of the regression model were ambiguous; it is not clear which independent measures contributed the most to poor outcomes. People with USH3 tended to report the most problems regarding the dependent outcome measures. CONCLUSION: The observations of the associations between the independent variables and poor health, social trust and finances made in the present study are important to bear in mind in a rehabilitation setting; however, they do not fully explain how people with USH actually feel or rate their health. More research is needed to confirm the knowledge that exists within the clinical setting and the life stories told by the people with USH to merge existing knowledge into a rehabilitation setting based on evidence.

Aspects of learning from the perspective of people with Alström syndrome.

PURPOSE: The aim of the study was to explore aspects of learning, from a lifelong perspective, in individuals with Alström syndrome (AS). AS is an autosomal recessive disorder causing early blindness, progressive sensorineural hearing loss, cardiomyopathy, endocrine disorders, metabolic dysfunction, and abbreviated lifespan. METHOD: Eleven individuals with AS participated. The study had a qualitative explorative design, giving voice to the participants' perspectives on their situation. Data were collected using semi-structured interviews, which were subjected to conventional (inductive) qualitative content analysis. RESULTS: The analysis revealed in the participants a quest for independence and an image of themselves as capable people willing to learn, but in constant need of support to continue learning throughout their lives to be as independent as possible. CONCLUSION: Based on the levels of functioning, i.e. personal resources, revealed in the interviews, supervisors, caregivers, and teachers are encouraged to allow people with AS to be their own advocates, as they know best how, what, and with whom they learn, and what type of sensory material - tactile, auditory, visual, or a combination - is most helpful. IMPLICATIONS FOR REHABILITATION: Individuals with AS strive for independence, and to be independent they need to continue to learn throughout their lives. Individuals with AS know best how they learn, and should be asked what modalities are the most effective for them. The tactile modality for learning will continue throughout life and should be emphasized early in the individual's education and rehabilitation.

Mechanism and functional impact of CD40 ligand-induced von Willebrand factor release from endothelial cells.

Co-stimulation via CD154 binding to CD40, pivotal for both innate and adaptive immunity, may also link haemostasis to vascular remodelling. Here we demonstrate that human platelet-bound or recombinant soluble CD154 (sCD154) elicit the release from and tethering of ultra-large (UL) von Willebrand factor (vWF) multimers to the surface of human cultured endothelial cells (ECs) exposed to shear stress. This CD40-mediated ULVWF multimer release from the Weibel-Palade bodies was triggered by consecutive activation of TRAF6, the tyrosine kinase c-Src and phospholipase Cγ1 followed by inositol-1,4,5 trisphosphate-mediated calcium mobilisation. Subsequent exposure to human washed platelets caused ULVWF multimer-platelet string formation on the EC surface in a shear stress-dependent manner. Platelets tethered to these ULVWF multimers exhibited P-selectin on their surface and captured labelled monocytes from the superfusate. When exposed to shear stress and sCD154, native ECs from wild-type but not CD40 or vWF-deficient mice revealed a comparable release of ULVWF multimers to which murine washed platelets rapidly adhered, turning P-selectin-positive and subsequently capturing monocytes from the perfusate. This novel CD154-provoked ULVWF multimer-platelet string formation at normal to fast flow may contribute to vascular remodelling processes requiring the perivascular or intravascular accumulation of pro-inflammatory macrophages such as arteriogenesis or atherosclerosis.

The ICF Core Sets for hearing loss: researcher perspective, Part II: Linking outcome measures to the International Classification of Functioning, Disability and Health (ICF).

OBJECTIVE: To link outcome measures used in audiological research to the ICF classification and thereby describe audiological research from the ICF perspective. DESIGN: Through a peer-reviewed or a joint linking procedure, link outcome measures to the ICF classification system using standardized ICF linking rules. Additional linking rules were developed in combination with the established rules to overcome difficulties when connecting audiological data to ICF. Absolute and relative frequencies of ICF categories were reported. STUDY SAMPLE: The identified outcome measures from the previous study (Part I) constituted the empirical material. RESULTS: In total, 285 ICF categories were identified. The most prevalent categories were related to listening, hearing functions, auditory perceptions, emotions and the physical environment, such as noise and hearing aids. Categories related to communication showed lower relative frequencies, as did categories related to the social and attitudinal environment. CONCLUSIONS: Based on the linked outcome measures, communication as a research topic is subordinated to other research topics. The same conclusion can be drawn for research targeting the social and attitudinal environment of adults with HL. Difficulties in the linking procedure were highlighted and discussed, and suggestions for future revisions of the ICF from the audiological perspective were described.

Migrating oligodendrocyte progenitor cells swell prior to soma dislocation.

The migration of oligodendrocyte progenitor cells (OPCs) to the white matter is an indispensable requirement for an intact brain function. The mechanism of cell migration in general is not yet completely understood. Nevertheless, evidence is accumulating that besides the coordinated rearrangement of the cytoskeleton, a finetuned interplay of ion and water fluxes across the cell membrane is essential for cell migration. One part of a general hypothesis is that a local volume increase towards the direction of movement triggers a mechano-activated calcium influx that regulates various procedures at the rear end of a migrating cell. Here, we investigated cell volume changes of migrating OPCs using scanning ion conductance microscopy. We found that during accelerated migration OPCs undergo an increase in the frontal cell body volume. These findings are supplemented with time lapse calcium imaging data that hint an increase in calcium content the frontal part of the cell soma.

A boundary delimitation algorithm to approximate cell soma volumes of bipolar cells from topographical data obtained by scanning probe microscopy.

BACKGROUND: Cell volume determination plays a pivotal role in the investigation of the biophysical mechanisms underlying various cellular processes. Whereas light microscopy in principle enables one to obtain three dimensional data, the reconstruction of cell volume from z-stacks is a time consuming procedure. Thus, three dimensional topographic representations of cells are easier to obtain by scanning probe microscopical measurements. RESULTS: We present a method of separating the cell soma volume of bipolar cells in adherent cell cultures from the contributions of the cell processes from data obtained by scanning ion conductance microscopy. Soma volume changes between successive scans obtained from the same cell can then be computed even if the cell is changing its position within the observed area. We demonstrate that the estimation of the cell volume on the basis of the width and the length of a cell may lead to erroneous determination of cell volume changes. CONCLUSIONS: We provide a new algorithm to repeatedly determine single cell soma volume and thus to quantify cell volume changes during cell movements occuring over a time range of hours.

Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective.

PURPOSE: The aim was to explore ophthalmic health care in female patients with Usher Syndrome type I (USH I) over 20 years and to evaluate the relationship between the ophthalmic health care and the health state of the patients from a health perspective. METHODS: A retrospective study of records from ophthalmology departments (OD) and low vision clinics (LVC) from 1985 to 2004. Assessment of the reports was performed based on the International Classification of Functioning, Disability and Health (ICF). Findings were analysed by manifest content analysis with ICF as a framework and using four themes: health care system, procedure examinations, patient's functioning and disability and procedure actions. RESULTS: The records of nine female patients (aged 25-39 years, 1985) with USH I were selected from the national database of USH. A great number of notes were collected (OD 344 and LVC 566). Procedure examinations were exclusively oriented towards body structure and function. All patients showed aggravated visual impairment over and above the hearing and vestibular impairment. Procedure actions were oriented towards environmental factors. No correlation was found between procedures performed and patient's experience of disability. CONCLUSIONS: The high degree of resource allocation was not correlated to the patients' impairment. The study indicates that the ophthalmic health care was characterised by inefficiency. This conclusion is very serious because patients very likely face severe disability and emotional difficulties. ICF is ought to be incorporated in ophthalmic health care strategy to improve the health care.

Deafblindness, ontological security, and social recognition.

Trust, ontological security, and social recognition are discussed in relation to self-identity among people with acquired deafblindness. To date the phenomenon has not been elaborated in the context of deafblindness. When a person with deafblindness interacts with the social and material environment, the reliability, constancy, and predictability of his or her relations is crucial for maintaining or achieving ontological security or a general and fairly persistent feeling of well-being. When these relations fundamentally change, the impact on ontological security will be very negative. The construction of social recognition through the interaction between the self and others is embodied across three dimensions: at the individual level, at the legal systems level, and at the normative or value level. The relationship between trust and ontological security on the one hand and social recognition on the other hand is discussed. It is argued that these basic processes affecting personality development have to be identified and acknowledged in the interactions people with deafblindness experience. Some implications for the rehabilitation of people with acquired deafblindness are presented and illustrated.

Social recognition, participation, and the dynamic between the environment and personal factors of students with deafblindness.

The study describes environmental and personal factors that, from the student perspective, impede participation in education in secondary upper schools by students with postlingual deafblindness. The discussion is framed by the International Classification of Functioning, Disability, and Health. The researchers use the theory of social recognition as a theoretical tool in understanding the dynamics between personal factors and environment in the context of secondary upper-school education. Thirty-four students with deafblindness responded to a questionnaire; the survey's findings indicate experiences of barriers in the natural and social environments that restrict participation. Experience of considerateness--such as concern for the special requirements of students with deafblindness--and experience of the lack of considerateness are the most important factors. Negative roles adapted by some students for themselves may be interpreted as resulting from a lack of recognition, in the form of denigration or insults.

Deafblindness: a challenge for assessment--is the ICF a useful tool?

The International Classification of Functioning, Disability and Health (ICF) is considered to be a big step forward in relation to the possibilities for describing disabilities. The aim of this paper is to highlight some strengths and limitations in the ICF that have been found during a study of people with deafblindness. Thirty-two adults aged 19-92 years, totally deaf and blind, as well as those with some remaining vision and hearing, were included. Questionnaires and personal interviews were used. The participants had difficulties in activities and participation on almost all investigated items. The following five circumstances could not be taken account of: fast variation in functioning due to different personal and environmental factors; choosing not to do an activity because of a health condition; time loss impacting on quality of life; health risks related to particular impairments; and obligations. The ICF needs to address these questions and needs to be further developed.

Influence of proteins Bsp and FemH on cell shape and peptidoglycan composition in group B streptococcus.

Group B streptococcus (GBS) is surrounded by a capsule. However, little is known about peptidoglycan metabolism in these bacteria. In the present study, a 65 kDa protein was isolated from the culture supernatant of GBS and N-terminally sequenced, permitting isolation of the corresponding gene, termed bsp. The bsp gene was located close to another gene, designated femH, and reverse transcription-PCR revealed a bicistronic transcriptional organization for both genes. The Bsp protein was detected in the culture supernatant from 31 tested clinical isolates of GBS, suggesting a wide distribution of Bsp in these bacteria. Overexpression of bsp resulted in lens-shaped GBS cells, indicating a role for bsp in controlling cell morphology. Insertional disruption of femH resulted in a reduction of the L-alanine content of the peptidoglycan, suggesting that femH is involved in the incorporation of L-alanine residues in the interpeptide chain of the peptidoglycan of GBS.