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Chronic, non-communicable diseases account for an estimated 80% of total deaths and 70% of disability-adjusted life years (DALYs) lost in China. Cardiovascular diseases, chronic respiratory disease, and cancer are the leading causes of both death and of the burden of disease, and exposure to risk factors is high: more than 300 million men smoke cigarettes and 160 million adults are ...
Hirayama disease, also known as monomelic amyotrophy (MMA), [1] [2] is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males, with an average age of onset between 15 and 25 years.
The first presentation of epileptic seizures within the first few months of life would suggest a possible diagnosis of CDD. Initial clinical testing for differential diagnosis may include MRI and CSF testing for structural or infectious etiologies ; however, CDKL5 is now widely included in DNA sequence-based molecular diagnostic gene panels or ...
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
The initial diagnosis was "peripheral neuropathy, cause of limb pain and redness to be determined". The lumbar puncture performed on the same day yielded normal results. The next day, a neurology consultation ruled out autoimmune diseases, poisoning, and metabolic diseases. PUMCH treated her according to the diagnosis of Guillain-Barré ...
While cardiomyopathy can be life-threatening, it is commonly resolved or substantially improved in Barth Syndrome patients after puberty. [ 10 ] Neutropenia , a granulocyte disorder that results in a low production of neutrophils, the body's primary defenders against bacterial infections, is another severe manifestation of Barth Syndrome.
Other characteristics of this disease include: epilepsy, congenital and urogenital defects, microcephaly, corpulence, and psychiatric disorders. [1] From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene. [ 4 ]
This is especially true for Healthy life expectancy, the definition of which criteria may change over time, even within a country. For example, Canada is a country with a fairly high overall life expectancy at 81.63 years; however, this number decreases to 75.5 years for Indigenous people in the country. [4]