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Severe Combined Immune Deficiency Syndrome:
SCID is a rare, inherited disorder that affects the development and function of white blood cells.
It's characterized by a deficiency of T and B cell development and function, which makes people with SCID highly susceptible to infections.
SCID is also known as the “bubble boy disease” or “boy in the bubble” syndrome.
This is due to the publicity surrounding David Vetter, a boy with X-linked SCID who lived in a germ-free plastic bubble for 12 years.
Management:
Gene therapy can be used to treat severe combined immunodeficiency (SCID) by correcting the root cause of the disease.
Gene therapy involves:
Inserting healthy human genes into a patient's stem cells.
Washing the virus from the cells.
Transplanting the corrected cells back into the body.
The corrected cells divide and proliferate, passing on the normal gene copies to all the blood cells.
Gene therapy has been successful in treating children with XSCID and ADA deficiency SCID.
However, some treatments and trials have been halted due to concerns over the safety of viral vectors.
Other treatments for SCID include:
Bone marrow transplantation,
Enzyme therapy,
Avoiding live vaccines,
Antimicrobial prophylaxis, and
Isolation to prevent catching an infection.
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Porphyria cutanea tarda :
It results from underactivity of the enzyme uroporphyrinogen decarboxylase, which leads to accumulation of porphyrins in the liver.
Liver disease is common.
About 35% of people develop cirrhosis and 7 to 24% develop liver cancer.
Symptoms of Porphyria:
The acute (hepatic) porphyrias are characterized by episodes of abdominal pain (the most common symptom), constipation and other gastrointestinal symptoms.
Photosensitivity leading to pain immediately upon exposure to sunlight (e.g. EPP) or blistering and fragility of the skin in areas exposed to sunlight is seen in Porphyria cutanea tarda.
How is PCT diagnosed?
Diagnosisof (PCT) relies on the identification of characteristic symptoms, a comprehensive patient history, and a thorough clinical evaluation involving specialized tests.
Diagnosis is established by finding substantial increases in porphyrins in urine or plasma and excluding other blistering cutaneous porphyrias.
What is the drug of choice for porphyria cutanea tarda? :
Porphyria cutanea tarda may be treated by simply avoiding the precipitating factors.
However, phlebotomy and hydroxychloroquine are both effective in achieving biochemical and clinical remission.
Primary Data Vs Secondary Data :
The main difference between primary and secondary data is that primary data is original information collected by a researcher for a specific purpose, while secondary data is information that has already been collected by someone else.
Primary data:
Original information gathered by the researcher for a specific purpose.
Primary data is unique, first-hand, and from an original data source.
Examples of primary data include interviews, original artwork, and personal narratives.
Secondary data :
Information that has already been collected by someone else.
Secondary data is usually gathered from published sources, such as statistical synopses, census records, and government reports.
Researchers use secondary data to gain a broad overview of a topic, understand how other researchers have approached it, and support or contrast their arguments with other researchers' ideas.
However, there are some limitations to using secondary data, including:
The quality of the secondary sources can affect the validity of the data.
The information may not fit the same boundaries as the primary data.
The data may address some issues but not others.
