Neurology. Charles H. Clarke
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Название: Neurology

Автор: Charles H. Clarke

Издательство: John Wiley & Sons Limited

Жанр: Медицина

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isbn: 9781119235705

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      Genetic

       Huntington’s: a single gene disorder with high penetrance.

       Epilepsy: complex interactions between presumed susceptibility genes.

       Alzheimer’s: genetic influences in 10%, but not in the majority.

      Genetic and Environmental

       Parkinson’s disease: presumed genetic influences but susceptibility (curiously) reduced by smoking.Table 1.1 Population size and doubling times.Source: Data from The Population Reference Bureau, 2015CountryPopulation (millions)No. of births/motherDoubling time (years)Nigeria1076.223India9703.536China12361.867USA2682.0116Japan1261.5289UK601.7433Table 1.2 Incidence and point prevalence.Source: Data from various WHO sources; excludes shingles.DisorderIncidence (100 000/year)Point prevalence /100 000Migraine37012 100Acute stroke Subarachnoid haemorrhage TIA190 15 30900Epilepsy50710Dementia50250Parkinson’s disease20200Chronic polyneuropathies4024Bell’s palsy25Meningitis & infections15Brain tumours1010Trigeminal neuralgia41Multiple sclerosis Motor neurone disease4 290 4Muscular dystrophies16

       MS: genetic susceptibility and geographic location. MS is more common in latitudes around 50°N and S of the equator, and rare in the tropics (0°–23.5° N and S). Clusters of MS cases, for example on the W coast of Ireland.

      Evident and Preventable

       In traumatic brain injury, many severe brain injuries have been prevented by car seatbelts.

       Meningitis due to Haemophilus influenza, Streptococcus pneumoniae and Meningococci: immunisation.

      Generally, where primary causes are poorly understood, causation can be divided into

       predisposing factors (e.g. age, gender, genetic susceptibility)

       enabling factors (e.g. hypertension, poor nutrition, inadequate medical care)

       precipitating factors (e.g. exposure to infectious or noxious agent)

       reinforcing factors (e.g. repeated or prolonged exposure).

      Most neurological conditions are products of multifactorial influences, each of which alone would not cause the disease. It is thus helpful to study risk factors.

      Mortality, Life Expectancy and Quality of Life

      Mortality rate: the number dying of a condition divided by the number in the population.

      This information is of limited value without knowledge of the overall death rate.

      Life expectancy (median survival age) is often lowered in neurological disease, but data are complex.

      Taking epilepsy, one study followed over 500 cases for >10 years. The overall mortality ratio was 2.1. The hazard ratio (HR), or risk of death, for epilepsy overall, was 6.2. Life expectancy was reduced by some 2–10 years.

      Quality of Life

      It is not enough to prolong survival. In high grade gliomas, radiotherapy is known to prolong life by about six months. Side effects are severe; the trade‐off between survival and quality of life (QoL) is important. One study showed that how well a patient was before radiotherapy was a good indicator of disability‐free life after it. For those already disabled, radiotherapy offered little gain.

      Other Important Measures

       Birth rate: number of live births/mid‐year population;

       Fertility rate: number of live births/number of women aged 15–44 years (Figure 1.3);

       Infant mortality rate: number of infant (<1 year) deaths/number of live births;

       Stillbirth rate: number of intrauterine deaths after 28 weeks/total births;

       Perinatal mortality rate: number of stillbirths + deaths in first week of life/total number of births.

Schematic illustration of comparison of age-specific fertility rates in women with treated epilepsy and general UK population of women in 1993.

      .

      Cost of Illness Studies

      The principal duty of a clinician is to provide individual care. However, doctors are now rightly involved in economic considerations. In any study of cost, analysis is of signal importance. Who was the study for, and who did it? The cost and burden for an individual have different parameters when compared with the effect on families, on health services and on society. Many studies are carried out from the point of view of society, with costs estimated in terms of lost employment, lost productivity and premature death, rather from the perspective of a patient, or their family.

       Direct costs mean any resource used – medical costs of primary care, out‐patient and in‐patient investigation, drugs, residential and community care, training and rehabilitation.

       Indirect costs are from lost economic production. They include premature mortality, dependency, unemployment and underemployment. The ‘human capital’ approach ascribes a monetary value to a person in terms of their potential productivity.

      Source: Modified from Olesen and Leonardi 2003.

Condition DALYs × 10
Europe Wealthy countries a India Sub‐Saharan Africa World
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