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The cause of Fukuyama congenital muscular dystrophy is rooted in the FKTN gene, located at human chromosome 9q31, encoding the protein fukutin. Mutations in this gene, and therefore the fukutin protein, are the cause of FCMD. [8] The disease is inherited in an autosomal recessive manner. [5]
Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.
Electronic health records, [87] [88] [54] death certificates [89] [56] [90] [91] as well as post-mortem analyses (such as post-mortem computed tomography and other other pathology) [92] can and are often used to investigate underlying causes of deaths such as for mortality statistics, [93] [94] relevant to progress measurements. [95]
The mortality rate – often confused with the CFR – is a measure of the relative number of deaths (either in general, or due to a specific cause) within the entire population per unit of time. [2] A CFR, in contrast, is the number of deaths among the number of diagnosed cases only, regardless of time or total population. [3]
In law, medicine, and statistics, cause of death is an official determination of the conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. In rare cases, an autopsy needs to be performed by a pathologist. The cause of death is a specific disease or injury, in ...
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), [1] is a rare form of autosomal recessive congenital muscular dystrophy. [2]
A brief or only mildly elevated heart rate (heart rate taken while sitting down after recently walking across the room or getting up on the examination table) might be assumed to be due to anxiety or illness rather than exercise-induced inappropriate rapid heart rate due to an ATP shortage in the muscle cells. In the absence of severe symptoms ...