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Articles in Genetic disorders

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Pyridoxine: Uses, indications and cautions when using
Currently, pyridoxine is commonly used primarily to prevent and treat health conditions, such as vitamin B6 deficiency, neurological disorders or certain genetic disorders. Knowing what it is for, how to take it, and how to prevent side effects can help you get the best benefit from pyridoxine.
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Features of muscle relaxants
Muscle relaxants are transient, reversible, and are often used for surgical analgesia. The muscle relaxant effect is mainly due to the disruption of nerve signal transmission at the neuromuscular junction.
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Uses of Asfotase alfa
Asfotase alfa is an enzyme replacement medicine used to treat hypophosphatemia, which causes soft or brittle bones that affect growth and tooth loss.
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Screening and diagnostic tests for genetic disorders
Genetic screening and diagnosis is an advanced method in medicine today to determine whether a child is at risk of having a genetic disease.
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Human albinism is caused by which mutation?
Albinism occurs in humans and vertebrates. This is a congenital disease caused by a disorder in the synthesis of melanin pigment, causing the patient's hair, eyes and skin to be pale.
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Mother pregnant with twins, how will amniocentesis?
Pregnant women are only offered amniocentesis when absolutely necessary. For pregnant women carrying twins, amniocentesis requires taking samples from two separate amniotic sacs. This leads to a higher risk of complications than in singleton pregnancies.
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What is a chorionic villus biopsies?
The placenta has the function of ensuring the fetus lives, metabolizes and plays an endocrine role to help the mother's body adapt to pregnancy. Abnormalities of the placenta will clearly reflect abnormalities of the fetus.
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Prenatal diagnosis: When is amniocentesis performed?
Amniocentesis is a prenatal test in which a small amount of amniotic fluid is withdrawn from the uterus through the abdominal wall under ultrasound guidance. This amniotic fluid is sent for genetic analysis, which can help detect any genetic disorders.
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Should pregnant women with hepatitis B, C, HIV have amniocentesis and chorionic villus biopsies?
Some prenatal screening procedures require deep penetration into the uterus to obtain tissue samples or amniotic fluid samples for testing, such as amniocentesis and chorionic villus sampling.
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How is amniocentesis performed? Are you hurt?
Amniocentesis is a procedure used for prenatal diagnosis after a doctor detects an abnormality in the fetus's chromosomes. So how is amniocentesis performed and what precautions should pregnant women take before having an amniocentesis test?
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Who should perform amniocentesis? Risks of amniocentesis
To detect the risk of fetal malformations early, doctors may prescribe amniocentesis for pregnant women in the late stages of pregnancy. So is amniocentesis safe and who should do it?
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Cardiology Pediatrics Orthopedics