Angelman syndrome : Pathology research works
The Journal of Clinical and Experimental Pathology (ISSN: 2161-0681) deals with research on infectious disorders associated with immune system and immunological disorders, infectious diseases, treatment of infectious diseases, infectious medicine, epidemiology, diagnostic tests of infectious diseases, infection control, pathophysiology, clinical pathology , preventive medicine. Clinical Pathology deals with patient care, diagnostic services, novel treatments and research on immune infections. Journal of Clinical & Experimental Pathology covers all areas of clinical and experimental pathology. Articles such as research papers, review articles, commentaries and short communications leading to the development of Journal of clinical and experimental pathology.
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Angelman syndrome is due to a lack of function of part of chromosome 15 inherited from a person's mother. Most of the time, it is due to a deletion or mutation of the UBE3A gene on that chromosome. Occasionally, it is due to inheriting two copies of chromosome 15 from a person's father and none from their mother. As the father's versions are inactivated by a process known as genomic imprinting, no functional version of the gene remains. Angelman syndrome is typically due to a new mutation rather than one inherited from a person's parents. It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965.An older term, "happy puppet syndrome", is generally considered pejorative.
- Developmental delay
- Speech impairment
- Movement or balance disorder, usually ataxia of gait and tremulous movement of limbs
- Behavioral characteristic any combination of atypical frequent laughter/smiling, atypically happy demeanor; easily excitable personality, often with hand flapping movements, hypermotoric behavior, short attention span.
- Hypopigmented skin and eyes
- Tongue thrusting; suck/swallowing disorders
- Hyperactive tendon reflexes
- Feeding problems during infancy
- Uplifted, flexed arms during walking
- Prominent mandible
- Increased sensitivity to heat
- Wide mouth, wide-spaced teeth
- Sleep disturbance
- Frequent drooling, protruding tongue
- Attraction to/fascination with water
- Excessive chewing/mouthing behaviors
- Flat back of head
- Smooth palms
- A history of delayed motor milestones and then later a delay in general development, especially of speech
- Unusual movements including fine tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait.
- Characteristic facial appearance
- A history of epilepsy and an abnormal EEG tracing.
- A happy disposition with frequent laughter
- A deletion or inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) or by BACs-on-Beads technology.
- Seizures are a consequence, but so is excessive laughter, which is a major hindrance to early diagnosis.
On the occasion of its 10 years, Successful Journey, Journal of Clinical and Experimental Pathology decided to provide a partial waiver on its article processing charges to promote quality research from across the nations of the globe to encourage the latest research in the field of Infections, Diseases and Medicine. Journal of Clinical and Experimental Pathology also planning to release a special issue on its new approaches.
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