Huntington's disease: a clinical review

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD). The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation) are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which results in patients requiring full-time care, and finally death. The most common cause of death is pneumonia, followed by suicide

Shifting journalistic roles in democratic transitions: Lessons from Egypt

While in the case of the Arab Spring the focus of research and debate was very much on the role of social media in enabling political change both during the uprisings and in their immediate aftermath, the impact of traditional national mass media and journalism on framing this political change has been less addressed. In this article, we investigate the role of Egyptian journalists in shaping Egypt’s complex and fast-moving political transition. Based on a thematic analysis of in-depth interviews and a conceptual framework building on Christians et al.’s normative roles of the media, it can be concluded that the monitorial and facilitative roles, which were prevalent in the early stages of the post-Mubarak era, were quickly overturned in favor of a radical and collaborative role. Egyptian journalists working in private media thus demonized their political adversaries, mainly the Islamists, transforming this political ‘other’ into the ultimate enemy. At the same time, the new military regime was being revered and celebrated. This arguably contributed to further destabilize the fragile transition to democracy. It is furthermore concluded that for democracy to succeed in an Egyptian context, antagonistic political conflicts need to be transformed into agonistic ones both at the level of political culture and media culture

Terrorism discourse on French international broadcasting: <i>France 24</i> and the case of <i>Charlie Hebdo</i> attacks in Paris

This article offers an inquiry into the discursive construction of ‘terrorism’ by France 24, the French international broadcaster, in the aftermath of the attacks on Charlie Hebdo satirical magazine in January 2015. The article argues that the broadcaster seems to employ a relatively narrow definition of terrorism linking it to Islam and Muslims. France 24 portrays the attacks as an external phenomenon coming to France from outside. The blame is assigned to non-French factors, mainly to foreign extremist organisations, Islamist ideologues and overseas training. No reasons for violence are sought inside the country. Internal developments, such as discrimination, youth marginalisation, lack of educational and work opportunities, relations between law enforcement and the Muslim community that could potentially contribute to the acts, are not explored by the broadcaster’s investigative journalism. This narrow interpretation of ‘terrorism’ that assigns responsibility to Muslims, Islamic indoctrination and overseas training may further alienate Muslim communities in France’s already divided society. It points to narrow policy responses that focus mainly on stricter monitoring of Muslim minorities, on limiting combat and cross-border movement. This type of discourse excludes long-term policy solutions that address broader socio-politico-economic conditions in which ‘terrorism’ might flourish

Quality of Care in Contraceptive Services Provided to Young People in Two Ugandan Districts: A Simulated Client Study

BACKGROUND: Low and inconsistent use of contraceptives by young people contributes to unintended pregnancies. This study assessed quality of contraceptive services for young people aged 15-24 in two rural districts in Uganda. METHODS: Five female and two male simulated clients (SCs) interacted with 128 providers at public, private not-for-profit (PNFP), and private for profit (PFP) health facilities. After consultations, SCs were interviewed using a structured questionnaire. Six aspects of quality of care (client's needs, choice of contraceptive methods, information given to users, client-provider interpersonal relations, constellation of services, and continuity mechanisms) were assessed. Descriptive statistics and factor analysis were performed. RESULTS: Means and categorized quality scores for all aspects of quality were low in both public and private facilities. The lowest quality scores were observed in PFP, and medium scores in PNFP facilities. The choice of contraceptive methods and interpersonal relations quality scores were slightly higher in public facilities. Needs assessment scores were highest in PNFP facilities. All facilities were classified as having low scores for appropriate constellation of services. Information given to users was suboptimal and providers promoted specific contraceptive methods. Minority of providers offered preferred method of choice and showed respect for privacy. CONCLUSIONS: The quality of contraceptive services provided to young people was low. Concurrent quality improvements and strengthening of health systems are needed

Dose-dependent improvement of myoclonic hyperkinesia due to Valproic acid in eight Huntington's Disease patients: a case series

BACKGROUND: Chorea in Huntington's Disease (HD) is usually treated with antidopaminergic neuroleptics like haloperidol, olanzapine and tiaprid or dopamine depleting drugs like tetrabenazine. Some patients with hyperkinesia, however, react to treatment with antidopaminergic drugs by developing extrapyramidal side effects. In earlier studies valproic acid showed no beneficial effect on involuntary choreatic movements. Myoclonus is rare in HD and is often overseen or misdiagnosed as chorea. METHODS: In this report, we present eight patients whose main symptom is myoclonic hyperkinesia. All patients were treated with valproic acid and scored by using the Unified Huntington's Disease Rating Scale (UHDRS) motor score before and after treatment. In addition to this, two patients agreed to be videotaped. RESULTS: In seven patients myoclonus and, therefore the UHDRS motor score improved in a dose dependent manner. In three of these patients antidopaminergic medication could be reduced. CONCLUSION: In the rare subgroup of HD patients suffering from myoclonic hyperkinesia, valproic acid is a possible alternative treatment

Brazil in the Era of Fascism: The “New State” of Getúlio Vargas

The New State established in Brazil by Getúlio Vargas (1937–1945) is the most important case of the institutionalisation of a dictatorship of the fascism era in Latin America. During this time, an impressive spectrum of authoritarian regimes was established, some of which were very instable and poorly institutionalised, while others were more consolidated. Roger Griffin coined the concept of para-fascism for some of them, and the “New State” of Getúlio Vargas in Brazil is a paradigmatic case. In this essay, we analyse the processes of institutional reform in 1930s Brazil paying particular attention to how domestic political actors look at institutional models of fascism and corporatism.info:eu-repo/semantics/publishedVersio

Empirical Models of Transitions between Coral Reef States: Effects of Region, Protection, and Environmental Change

There has been substantial recent change in coral reef communities. To date, most analyses have focussed on static patterns or changes in single variables such as coral cover. However, little is known about how community-level changes occur at large spatial scales. Here, we develop Markov models of annual changes in coral and macroalgal cover in the Caribbean and Great Barrier Reef (GBR) regions

Thy1+ Nk Cells from Vaccinia Virus-Primed Mice Confer Protection against Vaccinia Virus Challenge in the Absence of Adaptive Lymphocytes

While immunological memory has long been considered the province of T- and B- lymphocytes, it has recently been reported that innate cell populations are capable of mediating memory responses. We now show that an innate memory immune response is generated in mice following infection with vaccinia virus, a poxvirus for which no cognate germline-encoded receptor has been identified. This immune response results in viral clearance in the absence of classical adaptive T and B lymphocyte populations, and is mediated by a Thy1+ subset of natural killer (NK) cells. We demonstrate that immune protection against infection from a lethal dose of virus can be adoptively transferred with memory hepatic Thy1+ NK cells that were primed with live virus. Our results also indicate that, like classical immunological memory, stronger innate memory responses form in response to priming with live virus than a highly attenuated vector. These results demonstrate that a defined innate memory cell population alone can provide host protection against a lethal systemic infection through viral clearance