Clinical aspects of motor neurone disease

Motor neurone disease (MND), or amyotrophic lateral sclerosis (ALS), is a progressive, fatal neurodegenerative disease affecting upper and lower motor neurones. It eventually causes widespread weakness and wasting, spasticity, dysarthria, dysphonia, dysphagia and respiratory failure. The diagnosis is clinical, and it is important for management to establish this early. It presents with upper and lower motor neurone signs affecting the bulbar, cervicothoracic and lumbosacral regions (ALS), only lower motor neurone signs affecting one or more limbs (progressive muscular atrophy), purely bulbar region symptoms and signs (bulbar onset), or only upper motor neurone signs in the (usually lower) limbs (primary lateral sclerosis). Imaging, electrophysiological and other tests help the differential diagnosis of mimics, including potentially treatable conditions. The underlying cause remains uncertain. Only 5–10% of patients have a demonstrable genetic cause. There is no cure, and the greatest advances have been in improving multidisciplinary supportive management. This includes gastrostomy and nutritional support, respiratory monitoring and management, including provision of non-invasive ventilation, and communication aids. Drugs for symptomatic relief of excessive salivation and spasticity can help. Riluzole and edaravone (restricted acceptance) are used although their disease-modifying effects are said to be mild and are controversial. Genetic therapies are currently being trialled for C9orf72-and SOD1-related MND/ALS

Developments at the United Nations International Law Commission on Sea-Level Rise

This article examines some of the challenges presented by the phenomenon of sea-level rise in relation to international law with a focus on the analysis undertaken by the Study Group on Sea-Level Rise (“Study Group”) of the United Nations International Law Commission (“ILC”)

Clil teachers belief systems regarding grammar teaching and their teaching practices in an english full immersion private school in Chile

Tesina Magíster en la Enseñanza del Inglés como Lengua ExtranjeraGiven the geopolitical status that English enjoys globally, many schools have given this language a major role in the curriculum. Content and Language Integrated Learning (CLIL) appears as a solution for many schools in Chile in the teaching of English as a foreign language. The main aim of this multiple case study was to explore CLIL teachers’ beliefs systems regarding grammar teaching, together with any possible reported inconsistencies emerging from the analysis of their beliefs and their teaching practices, and the possible elements responsible for any discrepancies. In this qualitative study, the data were gathered using individual face-to face interviews, and a focus group interview. The findings of this study suggest that most CLIL teachers believe in the communicative approach when teaching grammar, yet some reported that they teach it in a more explicit way. Also, it became apparent that most were not aware of the role of their prior experience as language learners in their current teaching practices, and that time constraint when planning posed a difficulty for greater consistency between their beliefs and practices. It was found that the results from CLIL teachers mirror those yielded in studies where licensed English language teachers’ cognitions have been explored.Dado el estatus geopolítico mundial que tiene el idioma Inglés, muchos colegios en Chile le han asignado un rol importante en el currículum. La metodología CLIL ha surgido en respuesta a la necesidad de enseñar Inglés como lengua extranjera. El objetivo principal de este estudio de casos múltiple es explorar el sistema de creencias que sostienen los profesores de Educación General Básica que enseñan metodología CLIL respecto a la gramática, junto con posibles reportes sobre inconsistencias entre sus creencias y sus prácticas, así como las causas potenciales de estas posibles inconsistencias. En este estudio cualitativo los datos fueron reunidos a través de entrevistas individuales cara a cara y un focus group. Los hallazgos encontrados sugieren que los profesores CLIL creen que la gramática en Inglés debe enseñarse desde una perspectiva comunicativa, sin embargo, reportan enseñarla desde una perspectiva descontextualizada. Por otro lado, se encontró que la mayoría manifestó no haber tenido conciencia respecto del rol de su experiencia previa como aprendices del idioma Inglés en su práctica docente, así como la falta de tiempo para planificar representaría una dificultad para que su práctica docente sea consistente con sus creencias. Se encontró que los resultados de los profesores CLIL se reflejan en los hallazgos de estudios exploratorios respecto del sistema de creencias de profesores licenciados de Inglés

Abdominal migraine

Abdominal migraine is an important, common, and under-recognised cause of recurrent abdominal pain in children. It may be associated with, or followed by, other forms of migraine, and it predicts adult migraine.1234A positive diagnosis of abdominal migraine allows appropriate management and avoids unnecessary investigations and incorrect treatments.35 Although the evidence base is limited, acute and preventive treatments are available. This article highlights the diagnosis and management of abdominal migraine for non-specialists

Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1) gene. SOD-1 catalyses the superoxide radical (O−2) into hydrogen peroxide and molecular oxygen. The clinical neurophysiology in ALS plays a fundamental role in differential diagnosis between the familial and sporadic forms and in the assessment of its severity and progression. Sixty ALS patients (34 males; 26 females) were enrolled in the study and examined basally (T0) and every 4 months (T1, T2, and T3). Fifteen of these patients are SOD-1 symptomatic mutation carriers (nine males, six females). We used Macro-EMG and Motor Unit Number Estimation (MUNE) in order to evaluate the neuronal loss and the re-innervation process at the onset of disease and during follow-up period. Results and Discussion: SOD-1 mutation carriers have a higher number of motor units at the moment of diagnosis when compared with the sporadic form, despite a more dramatic drop in later stages. Moreover, in familiar SOD-1 ALS there is not a specific time interval in which the axonal regeneration can balance the neuronal damage. Taken together, these results strengthen the idea of a different pathogenetic mechanism at the base of sALS and fALS

Acquired inflammatory demyelinating polyneuropathies: Clinical and electrodiagnostic features

The acquired demyelinating polyneuropathies include acute (AIDP, Guillain-BarrÉ syndrome, GBS) and chronic (CIDP, dysproteinemic) forms which differ primarily in their temporal profile. They are inflammatory-demyelinating diseases of the peripheral nervous system and likely have an immunologic pathogenesis. Although these neuropathies usually have a characteristic presentation, the electromyographer plays a central role in their recognition, since the demyelinating component of the neuropathy, which greatly reduces the differential diagnosis, is often first identified in the electromyography laboratory. In AIDP, the electromyographer, in addition to establishing the diagnosis, can sometimes predict the prognosis. Recognition of the chronic and dysproteinemic forms of acquired demyelinating polyneuropathy is important since they are treatable. The dysproteinemic forms also may be associated with occult systemic disorders that also may require treatment, independent of the neuropathy.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/50143/1/880120602_ftp.pd