A Desordem do Espectro da Neuropatia Auditiva (DENA) é uma alteração auditiva periférica com manifestações clínicas heterogêneas, o que pode tornar o processo de intervenção auditiva em crianças com essa patologia um desafio para os profissionais e para as famílias. Neste sentido, o objetivo deste estudo foi compreender a vivência de mães, no processo de intervenção auditiva de crianças com DENA. O estudo foi de natureza qualitativa e prospectiva. Como método investigativo foram realizadas entrevistas abertas, norteadas por uma pergunta disparadora, na busca por mais profundidade e reflexão sobre o fenômeno em questão. No total, treze mães foram entrevistas e, para compreensão dos relatos empreendeu-se uma análise de conteúdo de acordo com os referenciais teóricos de Bardin, que resultou nas seguintes categorias subcategorias: Manifestações emocionais durante o tratamento, com as subcategorias Sentimentos da mãe no processo de intervenção da deficiência auditiva, Expectativas durante o processo de tratamento, Atendimento interdisciplinar; Condutas terapêuticas e educacionais, com subcategorias Indicação e uso dos dispositivos eletrônicos, Condutas educacionais; Redes de apoio, com as subcategorias Grupos de Apoio, Aspectos da fé; Preconceito e Impactos da pesquisa para as participantes. O processo de intervenção auditiva de seus filhos com DENA inicialmente significou para as mães um mundo desconhecido, vivenciado por sentimentos de sofrimento e insegurança diante do diagnóstico. Conforme compreenderam melhor a DENA e observaram os resultados positivos das intervenções, puderam viver com mais tranquilidade. A esperança de um futuro melhor e o apoio recebido deram o sentido para continuarem sua trajetória. Esta pesquisa trouxe reflexões sobre o papel social dessas mães na relação DENA e família. Revelou também a importância da equipe interdisciplinar, das redes de apoio e do suporte psicológico. Aponta-se a necessidade de novos olhares paras as políticas públicas em saúde auditiva desde as redes básicas até os centros especializados de saúde. / The Auditory Neuropathy Spectrum Disorder (ANSD) consists in a specific type of hearing impairment with different etiologies and manifestation forms. Therefore, the process of auditory intervention in children with this pathology can be challenging for health professionals and families. Giving this circumstance, the objective of this study was to comprehend the experience of mothers focusing on the auditory intervention process of children with ANSD disorder. The research performed was qualitative and prospective. As an investigative method, open interviews were conducted, guided by a guiding question, in the search for more depth and reflection on the phenomenon in focus. In total thirteen mothers were interviewed and, in order to comprehend the narratives, a content analysis was performed based on Bardin theoretical references. The results were gathered in the following categories: Emotional manifestations during treatment, subcategories, Mother feelings during the auditory intervention process, Expectations during the treatment process, Interdisciplinary service; Therapeutic and educational conduct, subcategories Electronic device indication and usage, educational conduct, Support network, Support Groups, Faith aspects, Prejudice, and Research impact on participants. The process of auditory intervention of their children with ANSD initially meant for the mothers an unknown world, experienced by feelings of suffering and insecurity before the diagnosis. However, as they understood DENA better and the positive results of the intervention emerged, could live more peacefully. The hope for a better future and the support received has given the sense to continue their trajectories. This research brought reflections on the social role of these mothers in relation to ANSD and family. It also revealed the importance of the interdisciplinary team, the psychological and social support which mothers received, as well as the promotion of mothers\' health. It is pointed out the need for new public policies in hearing health from the basic to the specialized centers of health.

Doctor of Philosophy / Abstract Neurodegenerative disorders are a diverse group of disorders that affect specific subsets of neurons. Motor neuron diseases, neurodegenerative disorders of motor neurons, are seen commonly as sporadic cases and less frequently as familial disease forms. The familial forms show genetic and phenotypic heterogeneity. Clinically motor neuron diseases may be seen as rapidly progressive disorders like amyotrophic lateral sclerosis, ALS or slowly progressive disorders like hereditary motor neuropathies, HMN. The only proven causes for motor neuron diseases are gene mutations that lead to motor neuron degeneration in familial disease forms. Only some of these genes have been identified and have contributed greatly to our understanding of the neurobiology of familial and sporadic disease forms. Identification of additional disease causing genes would help enhance our knowledge of the pathophysiological mechanisms underlying all forms of motor neuron disorders, which would lead to early diagnoses, effective prophylaxis and efficient therapies for these disorders. This study aimed to find gene mutations that cause rapid and slowly progressive familial motor neuron disorders in Australian families and to determine their relevance to sporadic forms of motor neuron disease. The familial forms of ALS show reduced disease penetrance, that is, not all gene mutation carriers manifest the disease. This study examines ALS penetrance in a group of Australian families. The most frequently observed mutations in ALS families are cytosolic superoxide dismutase/SOD1 gene mutations. In a collection of ALS families in our centre, families without the common SOD1 gene mutations were genotyped for other ALS genes and loci and studied using genetic linkage and haplotype analyses. Studies in a large Australian ALS family further confirmed genetic heterogeneity in non-SOD familial ALS, all known autosomal dominant ALS genes and chromosomal loci were excluded as cause of disease in this family. Such families can be studied further to identify additional disease genes and loci mapped in other ALS families. These families represent powerful resources for identification of additional ALS genes. Identifying the pathogenic genes in families with reduced disease penetrance may be more relevant to sporadic forms of disease. dHMN is a chronic neurodegenerative disorder predominantly affecting motor neurons. In a large Australian dHMN family, all the known dHMN genes and chromosomal loci were excluded as cause of disease. A genome wide microsatellite screen was performed in this family and genetic linkage was established to a novel 12.98 Mb locus on chromosome 7q34.2-q36. Candidate genes in this large interval will be screened based on their function and expression profile. Identification of a new dHMN locus provides the basis for future identification of a novel gene involved in motor neuron degeneration. Genes in dHMN have been shown to be pathogenic in ALS and Charcot Marie Tooth syndromes. The new locus for dHMN mapped in this project would lead to identification of a novel dHMN gene, which may elucidate the pathogenesis underlying a wide range of neurodegenerative disorders.

<p>Skin temperature is detected through signals in unmyelinated C-fibers and thin myelinated Aδ-fibers in the peripheral and central nervous system. Disorders in thin nerve fibres are important and not rare but difficult to diagnose by the most common neurophysiological methods. In this pilot study different methods for quantitative sensory testing, QST, were compared to give some ideas about which method could be the most efficient to use in order to point out injuries of the sensory system in clinical practice. The comparison was made between Békésy (separate warmand cold thresholds) and Marstock test (combined warm and cold thresholds). The study also included the test persons estimations of the difficulty to perform the tests.</p><p>The study showed that there was no practical difference between the tests and that the test persons estimations did not show any indications that the methods differed in rating of difficulty. Our study did not give reason to stop measuring warm and cold detection thresholds separately, which is the international standard and have some theoretical advantages. We also compared detection thresholds for hand and foot, warmth and cold and for both slow and fast temperature changes to enlighten factors that could affect our measuring data.</p>

Background/aim. The incidence of microvascular complications has been reported to be unchanged the last decades. However, in randomized clinical trials it has been shown that improved metabolic control can reduce the development of long term complications. It has been debated whether it is possible to achieve the same results in an unselected population. In a previous study we found a decreased incidence of overt nephropathy, but unchanged incidence of severe laser treated retinopathy in a population of patients with type 1 diabetes diagnosed in childhood. The aim of the present study was to investigate the incidence 10 years later in the same population and to analyse the importance of possible risk factors. In another previous study we found a high prevalence of subclinical neuropathy among young diabetic patients despite intensive insulin therapy since diagnosis. The aim of the present study was to examine if intensive treatment is more effective in preventing early diabetic complications other than neuropathy. The incidence of type 1 diabetes has doubled in Sweden the last decades. The reason must be environmental factors. These, as well as more intensive insulin regimens from onset of diabetes, might also lead to different disease process. We wanted to analyse if clinical characteristics at onset had changed the last 25 years and if there was any secular trend of C-peptide secretion. We also intended to investigate if longer persistence of C-peptide secretion could be of importance for prevention of long term complications. Methods. The whole study population consisted of all 478 patients with type 1 diabetes diagnosed before the age of 15 during the years 1961 - 2000, living in the catchment area of the Paediatric Clinic, University Hospital, Linköping, Sweden. For the statistical analysis the population was divided into five–year cohorts according to time of onset of diabetes. The cumulative proportion of severe retinopathy and overt nephropathy in 269 patients with onset of diabetes 1961 - 1985 was computed with survival analysis. Multivariable regression models were used to analyse the importance of metabolic control, diabetes duration, blood pressure, smoking, BMI, lipids and persisting C-peptide secretion. The prevalence of all grades of retinal changes, nephropathy and neuropathy, defined as abnormal nerve conduction, was estimated in the late 1990s in a subgroup of 80 children and adolescents with mean 13 years of diabetes duration. Clinical characteristics at onset, duration of partial remission and regularly measurements of fasting and stimulated C-peptide secretion the first five years after onset were analysed in 316 patients with onset of diabetes 1976 - 2000. Results. The cumulative proportion of severe laser treated retinopathy showed a significant declining trend the last decades. The decrease was significant between the oldest cohort with diabetes onset 1961 - 1965 and the cohorts with diabetes onset 1971 - 1975 and 1976 - 1980. The cumulative proportion of overt nephropathy also declined with a significant decrease between the oldest cohorts and all the following cohorts. After 25 years of diabetes duration it was 30% and 8% in the two oldest cohorts respectively and remained largely unchanged after 30 years. Diabetes duration and long term HbA1c were the only significant independent risk factors for both retinopathy and nephropathy. The risk of overt nephropathy increased substantially when HbA1c was above 8.5%, while the risk of severe retinopathy increased already when HbA1c exceeded 7.5%. The prevalence of neuropathy was 59%, of retinopathy 27% and of nephropathy 5% in the population of young patients after mean 13 years of diabetes duration. During the last 25 years the clinical characteristics at onset were unchanged as well as duration of partial remission and magnitude and persistence of C-peptide secretion. Conclusions. In this unselected population the cumulative proportion of severe retinopathy and overt nephropathy decreased over the last decades. Diabetic nephropathy has probably been prevented and not just postponed. Good glycaemic control was the most important factor to avoid complications, with the necessity of a lower level of HbA1c to escape retinopathy than nephropathy. Intensive insulin regimens from diabetes onset was not sufficient to entirely escape early diabetic complications after mean 13 years of diabetes duration, even if the prevalence of retinopathy and especially nephropathy was lower than usually reported. The clinical picture at onset of diabetes was unchanged the last 25 years. There was no secular trend of partial diabetes remission or C-peptide secretion during the first years after diagnosis.

Bakgrund: Fotsår är en vanlig komplikation vid diabetes typ 2. För att minska risken för fotsår och amputationer ska sjuksköterskan med hjälp av styrdokument och lagar arbeta tillsammans med personen för en bättre vård. Syfte: Att beskriva sjuksköterskeledda fotvårdsinterventioner och dess effekter för personer med diabetes typ 2. Metod: Studien är gjord som en litteraturstudie med elva vetenskapliga originalartiklar. Resultat: Resultatet utgår ifrån tre huvudkategorier. Dessa var Sjuksköterskans olika interventioner vid fotvård, där sjuksköterskans olika interventioner i arbetet mot att förhindra fotsår hos personer med diabetes typ 2 beskrivs i samtal och undersökning. Primära effekter av interventioner, där vikten av kunskap gällande sjukdomen och vikten av stöd i vardagen beskrivs. Samt Sekundära effekter av interventioner, som beskriver hur personerna kan undvika komplikationer och öka livskvaliteten. Diskussion: Utifrån resultatet framkom tre fynd. Dessa var Brist på fotundersökningar, då brister fanns gällande fotundersökningar inom vården. En utbildning passar inte alla, varje människa är unik och tar åt sig av information på olika sätt. Samt Delaktighet i vården, då relevansen för personens engagemang och delaktighet i vården lyfts fram. Slutsats: Genom att individualisera vården och öka kunskapen hos personer med diabetes typ 2 kan komplikationer undvikas och känsla av hälsa infinna sig. / Background: Foot ulcers are a common complication of type 2-diabetes.To reduce the risk of foot ulcers and amputations should the nurse with the help of policy documents and laws, work with the person for a better health care. Purpose: To describe the nurse-led foot care interventions and its effect for people with type 2-diabetes. Method: The study is designed as a literature review with eleven original scientific articles. Results: The result is based on three main categories. These were The nurse's various interventions in foot care, where the nurse's various interventions in the work to prevent foot ulcers in people with type 2-diabetes are described in conversations and examinations. Primary effects of interventions, which describes the importance of knowledge regarding the disease and the importance of support in everyday life. And Secondary effects of interventions, which describes how people can avoid complications and improve quality of life. Discussion: Based on the results three key findings were revealed. These were Lack of examinations, where deficiencies existed regarding foot examinations in health care. An education is not for everyone, each person is unique and learning in different ways. And Participation in care, the relevance of personal commitment and involvement in health care are highlighted. Conclusion: By individualize the care and to increase the knowledge in people with type 2-diabetes, complications can be avoided and the feeling of health can appear.

People with diabetes are at double the risk of developing depression. Depression is associated with increased morbidity and mortality in people with diabetes. Levels of A1c have been linked to microvascular complications (e.g., retinopathy, nephropathy, and neuropathy) as well as depression. The interrelationship between A1c, microvascular complications, and depression has not previously been investigated in a comprehensive model, and a better understanding of the nature of these associations is needed. Preliminary analyses test the assumption that A1c mediates the relationship between group assignment in the Diabetes Control and Complications Trial (DCCT) and microvascular complications. The primary purpose of the study is to examine multiple mediation models, which hypothesize that the severity of microvascular complications mediates the relationship between A1c and depressive symptomatology levels. Participants were people with type 1 diabetes (N = 1441) enrolled in the DCCT, a longitudinal randomized controlled trial investigating intensive insulin treatment and diabetes complications, and divided into primary (e.g., no retinopathy) and secondary (e.g., mild retinopathy) cohorts. Biological markers were used to measure A1c and microvascular complications. Depressive symptomatology was measured by the depression subscale of the Symptom Checklist-90-Revised. Simple and multiple mediation analyses were used to test proposed models. A1c mediates the relationship between DCCT group assignment and microvascular complications. Microvascular complications partially mediate the relationship between A1c and depression for the full sample and secondary cohort. Results support the hypothesis that the severity of microvascular complications, in part, accounts for the association between A1c and depressive symptomatology in people with type 1 diabetes.

Diabetinė neuropatija yra viena dažniausių cukrinio diabeto komplikacijų. Ši komplikacija išsivysto po 5-20 metų cukrinio diabeto ligos trukmės. Tačiau yra žinoma, kad 2 tipo cukrinio diabeto diagnozavimo data dažniausiai nesutampa su ligos pradžia. 2 tipo cukrinis diabetas pasireiškia palaipsniui, be ryškių simptomų, todėl diagnozė nustatoma pavėluotai, praėjus vidutiniškai 6-9 metams nuo ligos pradžios. Jutimų praradimas, pėdų opos, galūnių amputacijos didina mirtingumą nuo šios ligos. Mirtingumą taip pat įtakoja ir kardiovaskulinė autonominė neuropatija, padidėja mirčių rizika dėl širdies kraujagyslių ligų. Uždaviniai: 1. Nustatyti lėtinės sensomotorinės diabetinės neuropatijos dažnį sergantiesiems 2 tipo cukriniu diabetu. 2. Nustatyti autonominės neuropatijos dažnį ir ypatumus sergantiesiems 2 tipo cukriniu diabetu. 3. Įvertinti Mičigano klausimyno informatyvumą diabetinės neuropatijos diagnostikoje. 4. Įvertinti kiekybinių tyrimų informatyvumą diabetinės neuropatijos diagnostikoje. 5. Įvertinti sergančiųjų 2 tipo cukriniu diabetu, kuriems diagnozuota diabetinė neuropatija, gyvenimo kokybę. Atliktas darbas paskatins sudaryti diabetinės neuropatijos ištyrimo algoritmą, kad ir šeimos gydytojas, ir specialistas, kuo anksčiau nustatytų šią klastingą komplikaciją. / Diabetic neuropathy is one of the most prevalent complications of diabetes mellitus. It usually develops over 10 - 20 years of disease. However, it is known that the timing of disease diagnosis and the actual disease onset often differs. Since type 2 diabetes mellitus manifests gradually without obvious symptoms, the diagnosis is usually clarified only 6 - 9 years after the actual onset. Numbness, foot ulcers and amputation of the extremities increase this disease related mortality. Mortality is also affected by autonomic cardiovascular neuropathy and other cardiovascular diseases. The goals of the study: 1. Estimate a frequency of chronic sensory diabetic neuropathy in type 2 diabetes patients. 2. Estimate a frequency and characteristics of autonomic neuropathy in type 2 diabetes patients. 3. Evaluate a value of Michigan questionnaire in diagnostic of diabetic neuropathy. 4. Evaluate a value of quantitative methods in diagnostic of diabetic neuropathy. 5. Assess a life quality of patients with diabetic neuropathy. The study results stimulate to draft the recommendations and methods for the evaluation of diabetic neuropathy enabling family physicians and specialists to diagnose this complication early.

Objectives: The incidence of type 2 diabetes mellitus (DM2) is on the rise worldwide. The primary objective was to determine the prevalence of nutrient inadequacy and excessiveness in persons with DM2 with and without diabetic peripheral neuropathy (DPN). Study Design: A validated semi-quantitative food frequency questionnaire was used to determine the prevalence of inadequacy of nutrients with an estimated average requirement; the mean intake of nutrients with an adequate intake; and the proportion of persons not meeting the recommendations for the acceptable macronutrient distribution range (AMDR). Results: Differences were observed in the prevalence of inadequacy of vitamin A and the proportion of persons not meeting the AMDR for total fat, linoleic acid and carbohydrate. Conclusion: The aforementioned nutrients may have a significant role in the progression/development of DPN and should be studied in further detail. We recommend a balanced diet and use of a multi-vitamin for persons with DM2.

In diabetes hyperglycemia and lack of insulin signaling are key factors in the induction of diabetic sensory neuropathy. The combination of these factors in diabetes may enhance oxidative stress and trigger distal nerve damage in the peripheral nervous system. The link between elevated reactive oxygen species (ROS) levels and nerve degeneration is not clear. We tested the hypothesis that elevation of 4-hydroxy-2-nonenal (4-HNE) induced by oxidative stress in diabetes impairs mitochondrial activity and axonal regeneration in dorsal root ganglion (DRG) neurons. Also, we investigated the association between mitochondrial dysfunction and altered mitochondrial proteome in the axons of streptozotocin–induced diabetic rats. Research design and methods. Cultured adult rat DRG sensory neurons were treated exogenously with 4-HNE, and cell survival, axonal morphology, and level of axon outgrowth assessed. Western blot and fluorescence imaging were used to determine changes in the levels of adducts of 4-HNE and abnormalities in the mitochondria. Proteomic analysis using stable isotope labeling with amino acids in cell culture (SILAC) determined expression of proteins in the mitochondria. Results. 4-HNE impaired axonal regeneration, mitochondrial activity and induced aberrant axonal structures along the axons, which mimicked axon pathology observed in nerve isolated from diabetic rats and replicated aspects of neurodegeneration observed in human diabetic neuropathy. Proteins associated with mitochondrial dysfunction, oxidative phosphorylation and biosynthesis were down regulated in diabetic samples. The axons of diabetic neurons exhibited oxidative stress and depolarized mitochondria. CNTF and resveratrol reversed abnormalities in the mitochondrial membrane potential induced by diabetes and treatment of neurons with 4-HNE. CONCLUSIONS. Elevation of 4-HNE levels in diabetes was associated with impaired mitochondrial function and might be an important link between increased ROS levels and nerve degeneration in diabetic neuropathy. Abnormal mitochondrial function correlated with a down-regulation of mitochondrial proteins, with components of the respiratory chain targeted in lumbar DRG in diabetes. The reduced activity of the respiratory chain was associated with diminished superoxide generation within the mitochondrial matrix and did not contribute to oxidative stress in axons of diabetic neurons.

Studies show that vasomotor and sudomotor activity is compromised in individuals with Type 1 Diabetes (T1DM) which could lead to altered thermoregulatory function. However, recent work suggests that the impairments may only be evidenced beyond a certain level of heat stress. We therefore examined T1DM-related differences in heat loss responses of sweating and skin blood flow (SkBF) during exercise performed at progressive increases in the requirement for heat loss. Participants were matched for age, sex, body surface area and fitness cycled at fixed rates of metabolic heat production of 200, 250, and 300 W•m-2 of body surface area, each rate being performed sequentially for 30 min. Local sweat rate (LSR), sweat gland activation (SGA), and sweat gland output (SGO) were measured on the upper back, chest and forearm while SkBF (laser-Doppler) was measured on the forearm and upper back only. We found that despite a similar requirement for heat loss, LSR was lower in T1DM on the chest and forearm only, relative to Control and only different at the end of the second and third exercise periods. Differences in chest LSR were due to reduced SGA whereas the decreased forearm LSR was the result of a decrease in SGO. SkBF did not differ between groups. The reduction in the sweating response in the T1DM group was paralleled by a greater increase in core temperature. We show that T1DM impairs heat dissipation as evidenced by reductions in LSR and not SkBF. A compromised thermoregulatory response during and following physical exertion is of considerable concern due to the associated increased risk of post-exertion heat-related injury.