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Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
If the assumption is made that, on average, people live a half year on the year of their death, the complete life expectancy at age would be + /, which is denoted by e̊ x, and is the intuitive definition of life expectancy. By definition, life expectancy is an arithmetic mean. It can also be calculated by integrating the survival curve from 0 ...
The condition newly affects about one in a million children per year. [2] Onset is generally in children between the ages of 2 and 17. [1] Males appear to be more commonly affected than females. [2] Cases consistent with the condition were first described in 1961, with the current name coming into use in 2010. [5]
Juvenile myoclonic epilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy, [1] representing 5–10% of all epilepsy cases.
Lennox–Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy syndrome. It is characterized by multiple and concurrent seizure types including tonic seizure, cognitive dysfunction, and slow spike waves on electroencephalogram (EEG), which are very abnormal. [1]
While Action myoclonus renal failure (AMRF) syndrome can only be diagnosed using genetic test. [4] Using EEG's as a form of diagnosis can prove difficult as patients differ in their neurophysiology. In Lafora's disease EEGs can show slowing background activity or focal discharges as well as epileptiform discharges. [3]
However, CF can be excluded with a normal chloride in sweat test but faecal elastase as a marker of pancreatic function will be reduced. The variation, intermittent nature, and potential for long-term improvement of some clinical features make this syndrome difficult to diagnose. SDS may present with either malabsorption, or hematological ...
Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis. [1] Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).