Academic literature on the topic 'Stickler Syndrome Support Group'

The craniofacial characteristics of two syndromes commonly associated with Robin sequence were compared for 49 subjects. Lateral cephalograms were analyzed for four groupings: Group I—Stickler syndrome with versus without Robin, Group II—velocardlofacial (VCF) syndrome with versus without Robin, Group III—Stickler without Robin compared to VCF without Robin, and Group IV—Stickler with Robin compared to VCF with Robin. Thirty-two skeletal and 18 soft tissue measurements were compared. In Group I, three skeletal measurements were significantly different (SNA, SNB, and SNPg). In Group II, no significant difference was found for any of the 50 measurements. In Group III, a significant difference was demonstrated for seven parameters (one skeletal, six pharyngeal and airway). In Group IV, two skeletal and eight airway measures were significantly different. The findings Indicate that the relative maxillary and mandibular retrognathia observed in Stickler/Robin patients may predispose them to the Robin sequence and vice versa; the Robin features In VCF may be caused by hypotonia rather than any craniofacial or physical obstruction of the airway; Stickler and VCF are similar in craniofacial morphology but show marked differences in pharyngeal and airway morphology; and cephalometrics should not be the sole prognosticator of the Robin sequence and Its association with Stickler and VCF.

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness in the increasingly widely recognised sub-groups with ocular-only (or minimal systemic) involvement. Without diagnosis and prophylaxis in such high-risk subgroups, these patients are at high risk of Giant Retinal Tear detachment and blindness, especially in the paediatric population, where late or second eye involvement is common. Initially considered a monogenic disorder, there are now known to be at least 11 distinct phenotypic subgroups in addition to allied connective tissue disorders that can present to the clinician as part of the differential diagnosis. Plain language summary Treatment and diagnostic advances in Stickler syndrome The Stickler syndromes are a group of related connective tissue disorders that are associated with short-sight and a very high risk of blindness from detachment of the retina – the light sensitive film at the back of the eye. Other features include cleft palate, deafness and premature arthritis. It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment. In contrast to most other forms of blinding genetic eye disease, blindness from retinal detachment in Stickler syndrome is largely avoidable with accurate diagnosis and prophylactic (preventive) surgery. Recent advances in the understanding of the genetic causes of Stickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases and, most importantly, the patient’s individual risk of retinal detachment can be graded. Preventative surgery is hugely effective in reducing the incidence of retinal detachment in those patients shown to be at high risk. NHS England have led the way in the multidisciplinary care for patients with Stickler syndrome by launching a highly specialist service that has been free at point of care to all NHS patients in England since 2011 ( https://www.england.nhs.uk/commissioning/spec-services/highly-spec-services , www.vitreoretinalservice.org )

Stickler syndrome is a group of rare inherited diseases associated with abnormalities in connective tissues, specifically collagen of the eyes, ears, craniofacies, skeleton and joints. The inheritance pattern of this disease is either an autosomal dominant or an autosomal recessive based on the causative gene. Stickler syndrome is characterized by severe nearsightedness, vitreous abnormalities, distinctive facial features, hearing problems and joint anomalies. Herein, we report a case of a 37-year-old man from Vietnam suspected of Stickler syndrome, presenting a phenotype of retinal detachment and complete loss of vision, and his 3-year-old son with congenital high myopia and vitreous abnormalities. Genetic analysis using whole exome sequencing (WES) revealed a nucleotide substitution (c.C2818T/p.R940X) in exon 42 of the COL2A1 gene that was previously reported as a pathogenic variant causing Stickler syndrome. Validation of COL2A1 c.C2818T in all members of this family by using Sanger sequencing detected the presence of this pathogenic variant in the heterozygous form in the affected father and son but not in the mother and another son without any signs of a vision problem. Thus, our study contributes to not only the knowledge base of clinical and genetic aspects of Stickler syndrome in Vietnam but also the awareness of the importance of genetic counseling in patients with COL2A1 c.C2818T mutation, as well as early diagnosis and appropriate treatment to prevent serious complications, especially blindness.

Problems with Asperger's syndrome diagnostic in adults in Russia and obsolete practice of replacement of the diagnosis after age of 18 caused necessity of organization of specialized supports and efforts for social adaptation of such individuals. Experience of organization and leading the support group (that works since 2010) for adults with Asperger’s syndrome and high functioning autism is described: conditions, rules and recommendations for its organization. The discussed topics include autism awareness, social integration, personal relationships, autism symptoms and coping strategies, independent life. The participants report that the group is beneficial as a comfortable place for socialization, life experience exchange, development of self-acceptance, self-awareness and independent life skills. Involvement of psychologists in leading of some group meetings showed the necessity to extend their knowledge about autism spectrum disorders in adults. A review of screening tests and other aspects of self-diagnosis is given. Analysis of functioning of the support group for people with Asperger's syndrome and high-functioning autism confirmed large demand on this kind of help and its necessity for improving life quality.

Research has shown that individual members of traditional support groups gain a sense of identity and community and feelings of respect and support. Online support groups provide individuals avenues to find medical information and thus learn more about a given condition or illness. Little has been studied about the learning and instruction that occurs in online social support groups, especially in groups about chronic pain. The purpose of this qualitative case study was to explore the perceptions and experiences of members who participated in one open social support group. Siemen's constructivism theory served as the basis for comprehending the learning and instruction that took place in this group, and the research questions focused on the support group members' perceptions of this learning and instruction. Data were collected from 10 individuals who participated in a Facebook Reflex Sympathetic Dystrophy support group. Yin's case study framework provided additional support data analysis. Data were collected through individual, semistructured telephone interviews and observations of online discussions. A combination of open and axial coding was used to support content analysis. Themes identified were learning, knowledge, persuasion, and acceptance of underlying negativity. Online social support group participation involved shared experiences that facilitated learning and instruction; these findings could influence the structures of other support groups. Positive social change occurs when individuals are knowledgeable and well educated about social support groups because it is in these groups that trends, issues, and new information are learned. Informal learning occurs with the increased digital skills, especially within a person's virtual support networks

The purpose of this study was to examine victims of Guillain-Barre’ syndrome attitudes and beliefs about the effectiveness of the on-line support group as a way of coping with the disease. The sample for this study consisted of 10 adults from the United States, 10 from the United Kingdom, and 10 from Europe and Canada. The population in this study had attended or were presently attending a support group for Guillain-Barre’ victims. A questionnaire consisting of 35 items was administered via the internet. The variables tested were general attitudes towards support groups and beliefs about the effectiveness of the support group. The participants were asked demographic questions as well. The results were analyzed by cross-tabulation to detennine a relationship between variables. The findings indicated the participants in the study had positive attitudes and beliefs about the effectiveness of the support group.

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The Williams Syndrome (WS) is caused by an aneusomia due to the deletion of multiple genes on the long arm of chromosome 7 (7q11.23 region), characterized by cognitive and behavioral changes, excessive sociability, language difficulties with better expressive language performance than receptive one and intellectual disability of varying degrees. For parents, the impact of having a child with changes on typical development, especially when correlated to cognitive and behavioral changes, is huge, affecting the family as a whole. Several studies have shown a higher incidence of mental health problems, especially higher level of anxiety, depression and stress in parents of children with intellectual disabilities compared to general population. This study aims to develop, implement and evaluate the effectiveness of a family support program, training of parenting styles and social skills for parents of children and adolescents with WS. For this, we assessed behavior problems (Adult Self-Report-ASR) and mental health indicators such as stress (ISSL), anxiety (Beck Anxiety Inventory), depression (Beck Depression Inventory) as well as parenting styles (Inventory Parenting Styles), social skills (IHS), perception of Family Support (IPSF) and quality of life (WHOQOL-bref) in the group of parents. After that, occurred a group of family support, training of parenting practices and social skills for parents with seven weekly meetings that deal with each of the subjects evaluated. A space for discussion was constituted where each subject was treated by the group. After that, the instruments were again used to assess changes in indicators. Thirteen parents took initially part in this process but only eight have completed the entire process. Instrument data were analyzed through their standardization and compared before and after intervention. As results signs of anxiety and depression as well as characteristics of stress in the resistance stage, with psychological symptoms were observed in mental health indicators. With regard to the characteristics of parenting practices, social skills and quality of life, we observed that some parents showed positive monitoring practice as below average and inconsistent punishment practices with parental style of risk. Moreover, almost half of the participants had a repertoire for social skills below average or very deficient. Regarding the presence of behavior problems indicated by the ASR, there are indicators of problems related to anxiety/depression and isolation, and some indicators of aggressive behavior. Generally, many indicators evaluated after the intervention were reduced. As conclusions, these results demonstrated the effectiveness of the family support program, training in parenting practices and social skills to parents of children and adolescents with WS.
A Síndrome de Williams (SW) é causada por uma aneusomia segmentar devido à deleção de múltiplos genes no braço longo do cromossomo 7 (região 7q11.23), sendo caracterizada por alterações cognitivas e comportamentais, excessiva sociabilidade, com dificuldades de linguagem, tendo melhor desempenho na linguagem expressiva do que na receptiva, e déficit intelectual de graus variados. Para os pais, o impacto de ter um filho com alterações do seu desenvolvimento típico, especialmente quando associada a alterações cognitivas e comportamentais, é muito grande, trazendo nova realidade à família como um todo. Vários estudos têm demonstrado maior incidência de problemas de saúde mental, especialmente maior índice de sinais de ansiedade, depressão e estresse em pais de crianças com deficiência intelectual do que na população geral. Assim o presente trabalho se propôs a desenvolver, implementar e avaliar a eficácia de um programa de suporte familiar, treino de práticas parentais e habilidades sociais para pais de crianças e adolescentes com SW. Para isso, foram avaliados problemas de comportamento (Adult Self-Report-ASR) e indicadores de saúde mental como estresse (ISSL), ansiedade (Inventário de Ansiedade Beck), depressão (Inventário de Depressão Beck), além de estilos parentais (Inventário de Estilos Parentais), habilidades sociais (IHS), percepção de Suporte Familiar (IPSF) e qualidade de vida (WHOQOL-bref) no grupo de pais. Após isso, houve a implementação de um grupo de suporte familiar, treino de práticas parentais e habilidades sociais para pais com sete encontros semanais que trataram de cada um dos temas avaliados. Foi constituído assim um espaço de discussão onde cada um dos temas foi tratado pelo grupo. Após isso, houve nova aplicação desses instrumentos para avaliar mudanças nos indicadores. Participaram desse processo inicialmente treze pais dos quais oito concluíram todo o processo. Os dados dos instrumentos foram analisados por meio de suas padronizações e comparados antes e após a intervenção. Como resultados observaram-se, nos indicadores de saúde mental, presença de sinais de ansiedade e depressão além de características de estresse na fase de resistência, com sintomatologia psicológica. Com relação às características de práticas parentais, habilidades sociais e qualidade de vida no grupo de pais, foi possível observar que alguns pais demonstraram prática de monitoria positiva como abaixo da média e práticas de punição inconsistente com estilo parental de risco. Com relação aos índices de habilidades sociais, observou-se que quase metade dos participantes apresentaram um repertório para as habilidades sociais abaixo da média ou muito deficitário. Com relação à presença de problemas de comportamento indicado pelo ASR, há indicadores de problemas associados à ansiedade/depressão e isolamento, além de alguns indicativos de comportamento agressivo. De modo geral, após a intervenção, índices em muitas áreas avaliadas apresentaram redução. Demonstrando assim, como conclusão, eficácia do programa de suporte familiar, treino de práticas parentais e habilidades sociais para pais de crianças e adolescentes com Síndrome de Williams.

碩士
中國醫藥大學
營養學系碩士班
95
As the people’s lifestyle changes with the developing economic status, plus the progress in medical care level, the chronic diseases have replaced the common infectious illness in early times to be the major ones. Recently, metabolic syndrome has attracted interests and attention to be used as a new indicator for the prevention of cardio-vascular diseases. Many studies have shown that obesity is the major cause of metabolic syndrome. Therefore, to control the increase of obese popular becomes an urgent work. The key factor of body-weight control involves the changes in diet, exercise habit, and life style. However, it is difficult to change the accustomed behaviors. Besides, due to the lack of individual counseling, the effect of traditional group body-weight control is often less than that made by the one-to-one counseling. Consequently, how to improve the method used in a group body-weight control to raise the effect is truly important. This research introduced “telephone-based support system” into the operation of group body-weight control to assess its efficacy on the activity. About 111 people whose body mass index (BMI) were greater than 27 were recruited in Taichung as subjects via advertisement on newspapers. The subjects were randomly divided into experimental group using the intervention of the telephone-based support system, and the control group using the traditional group body-weight control method; the experimental group contained 58 subjects and the control group contained 53 subjects. The two groups all took the same body-weight control curriculum except that the experiment group received additional telephone calls from the volunteers at least once a week. Results showed that the body-weight, BMI and body fat in the experiment group were significantly reduced compared with that of control group (p < 0.01). For both groups, the nutrition education helped to improve the waist, triglyceride content and fasting serum sugar concentration, which were among the metabolic syndrome components, and the fasting serum blood sugar and male waist in the experimental group exhibited better improvement (p < 0.01). Each subject took less calories after finishing the body-weight control course. In short, reduction of body weight could ameliorate the metabolic syndrome components, and the intervention of telephone-based support system enhances such efficacy. The present study developed a new and effective model for the group body-weight control that can improve the outcome of such activities.

Degrees of Difference: Reflections of Women of Color on Graduate School uses personal narrative supported by scholarly research to identify the struggles faced by women of color in graduate school and the methods deployed by women to mitigate the academic and emotional struggles they face. Contributors represent a diverse group of women from different ethnic, racial, and national origin backgrounds in fields ranging from the humanities to sciences. The essays engage common themes that recur in many women of color’s narratives: racial microaggressions, alienation, disillusionment, a lack of departmental and institutional support, imposter syndrome, a lack of self-care, and limited support from family and partners. The authors then discuss the specific steps taken to resist the roadblocks that stop many women of color from completing their degrees. Focusing on self-care, the creation of supportive communities, finding like-minded mentors, and strategies on resisting racism and unsupportive faculty and graduate students, the contrubtors offer solutions and possible avenues to support other women of color’s success in academia.

Cognitive bias among workers can undermine security work and lead to critical misinterpretations of data. Understanding cognitive biases can improve understanding of how employees make decisions. This work analyzes key factors to better understand, predict, and obviate the detrimental bias symptoms, focusing on groupthink and polythink phenomena occurring in security and business decisions. It intends to provide support for the strategic versus tactical hypothesis in a strategic group decision-making, confirming how even in a clear-cut decision, following a groupthink or polythink dynamic, implementation becomes difficult due to a group dynamics at the other end of the decision-making continuum.

Food polyphenols constitute a large family of substances with beneficial properties in a large group of communicable and non-communicable diseases. These compounds support and improve the body’s defences against oxidative stress and are helpful in the prevention of pathologies related to metabolic syndrome. Furthermore, they exhibit anti-inflammatory, antiviral, and antimicrobial properties. This chapter draws attention to certain nutritional components such as hesperidin and quercetin, which are emerging as good candidates for a complementary beneficial effect in the case of diseases caused by viruses, including COVID-19. These nutraceuticals have a complex mechanism of action, which involves both cellular defence against oxidative stress and the modulation of inflammation, which although normally is a defence, repair and activation mechanism of the immune system, it can elude its controls and become a systemic and destructive pathology (cytokine storm, respiratory distress syndrome). Furthermore, recent in silico simulation tests suggest that both hesperidin and quercetin may interfere with SARS-CoV-2 by binding to cell receptors and the proteolytic enzymes involved in its replication. In addition to the inhibitory effects on the virus at cellular level, the two flavonoids can have indirect effects in respiratory infectious diseases as they prevent or improve metabolic and vascular comorbidities that can complicate the clinical course. This brief review focuses on biochemical and pharmacological mechanisms of action of polyphenols in the context of the revaluation of dietary approaches to the prevention and treatment of infectious diseases caused by viruses, with a special application to COVID-19.

Less than 15 years ago the National Heart, Lung and Blood Institute surveyed physicians in the United States in order to characterize the demographics of hemophilia. The average age of persons with hemophilia in the United States was found to be 11.5 years old. By 10 years later, the life expectancy was predicted to be normal, and indeed the average age of persons with hemophilia in the U.S. is now in the early twenties. Early, intensive and predictably efficacious control of hemorrhage has made this result possible, and the therapeutic product which has allowed such control is commercial clotting factor concentrate.We now know that starting in 1978, and with great frquency during 1982 and 1983, the majority of U.S. hemophiliacs were infected with human immunodeficiency virus (HIV). It is estimated that as of January, 1987, approximately two thirds of the 20,000' persons with hemophilia in the United States have been infected with HIV. Among those with severe factor VIII deficiency, more than 9056 are seropositive. As of 1/5/87, there were 288 cases of AIDS among U.S. hemophiliacs, for an AIDS rate of approximately 2.256 of those with HIV infection. This number included 185 with severe, 32 with moderate and 28 with mild hemophilia A; 12 with severe, 6 with moderate and 1 with mild hemophilia B; 9 with vWD, and 4 others. A disproportionate number were older patients: 55 were ages 1-19; 62 ages 20-29; 85 ages 30-39, and 86 age 40 or older. Although the AIDS attack rate is no longer climbing logarhythmically, new cases are certainly still occurring.A variety of other HIV-related syndromes have emerged. Of great concern is immune thrombocytopenia, which is now relatively common; among a group of 209 carefully followed HIV-positive patients at our center, 31 (1556) are or have been thrombocytopenic. Progressive failure to normally gain height and weight in children with hemophilia has recently been shown by our group to correlate with HIV antibody positivity, and also with decreased T4/T8 ratio, decreased T4 cell count, decreased skin test reactivity, and subsequent development of ARC or AIDS in some such children. Finally, a picture of progressive fall in T4 count associated with recurrent non-specific infections and increased likelihood of positive viral culture, may predict an increased risk of developing AIDS.We know that the immune dysfunction in hemophilia is complex, and not wholly explained by HIV infection. One important factor may be the many foreign proteins contained in commercial clotting factor concentrates, and their ability to stimulate T cells. It is known that latent HIV infection in cultured T4 lymphocytes can be induced to enter the proliferative, viral secretory phase by the addition of soluble foreign antigens to the cell culture. Recent data of Brettler and colleagues, to be presented at this meeting, suggest that the use of highly purified VI!I:C (specific activity >3000 u/mg) in place of the present extremely impure products, may improve the immune dysfunction in hemophilia. This observation offers a new hypothetical approach to the prevention of progressive T4 cell depletion in HIV infected hemophiliacs, and requires immediate and extensive further study.The psychosocial burden of HIV infection is immense. The need for extensive, formal education and support programs is largely unmet in most parts of the world. Such programs are best run out of hemophilia treatment centers in most cases, and must include an active program on prevention of sexual transmission, provision of HIV testing before and during pregnancies, provision for maintenance of confidentiality, etc. Education concerning HIV is like all other forms of education. It requires formal organization, a curriculum, active rather than passive learning in which there is interaction between the teacher and the pupil, time for planned repetition, reinforcement with written materials, and assessment of goals achieved. For all of these reasons it is inappropriate to assume that the physician at the hemophilia center will be able to provide an adequate education program. Adquate paramedical personnel will need to undertake this effort, under the directjon of the physician.