24 Questions
What is the recommended daily intake of folic acid for women of childbearing age?
0.4mg
What type of inheritance pattern is typically associated with sex-linked disorders?
X-linked recessive
Which system(s) is/are effected by Marfan's Syndrome
Skeletal
What is a common skeletal deformity associated with Marfan syndrome?
All of the above
What is the most life-threatening aspect of Marfan syndrome?
Cardiovascular defects
Why do female heterozygotes rarely experience the effects of a recessive defective gene?
Because they have a normal X chromosome
What is the purpose of taking folic acid supplements for women of childbearing age?
To prevent neural tube defects
What is the typical mode of inheritance for Marfan syndrome?
Autosomal dominant
What is the primary function of adaptive immunity?
To mount an immune response to an antigen through vaccination or environmental exposure
What is the main difference between innate and adaptive immunity?
Innate immunity is an immediate defense, while adaptive immunity requires time to develop
What is the role of plasmids in bacteria?
To increase antibiotic resistance in bacteria
What is the function of the cytoplasmic membrane in bacteria?
To regulate the movement of molecules in and out of the cell
What is the primary function of immunoglobulins in the humoral defense mechanism?
To recognize and bind to specific antigens
What is the primary difference between active and passive immunity?
Active immunity requires the host's immune system, while passive immunity involves transfer from another source
What is the function of IgG antibodies in infants?
To provide short-term protection against infection
What is a capability of prokaryotes?
To cause disease in hosts
In terms of embryonic development, what takes place during the "Period of Vulnerability"?
Organ differentiation
Which of the following is NOT a TORCH infection?
HIV
What is the primary effect of folic acid deficiency on embryonic development?
Increased risk of neural tube defects
Which of the following is an autosomal dominant disorder?
Huntington's disease
What is the primary mechanism by which teratogenic agents affect embryonic development?
Alteration of gene expression
Which of the following is an example of a secondary prevention measure?
Pap smear
What is the primary effect ofTORCH infections on fetal development?
Growth retardation and microcephaly
What is the primary function of folic acid in embryonic development?
Neural tube formation
Study Notes
Folic Acid Deficiency
- Implicated in neural tube defects (anencephaly, spina bifida, encephalocele)
- Taking folic acid daily by women of reproductive age reduces neural tube defects
- Recommended daily intake: 0.4mg
Sex-Linked Recessive Inheritance
- Almost always associated with the X chromosome
- Inheritance is predominantly recessive
- Female heterozygotes (carriers) rarely experience effects due to a normal X
- Males who receive the gene are typically affected as they only have the mutant copy
Marfan Syndrome
- Autosomal dominant disorder of connective tissue
- Affects several organ systems (eyes, cardiovascular, skeletal)
- Characteristics: long thin body, long extremities, long tapered fingers, hyperextensible joints, spinal deformities
- Can cause cardiovascular defects (mitral valve prolapse, aortic valve ring dilation)
- No cure
Infectious Disease
- Virulence: disease-producing potential
- Pathogens: microorganisms capable of causing disease
- Prokaryotes: unicellular organisms, bacteria, lack organized nucleus
- Plasmids: extrachromosomal pieces of circular DNA in bacteria, can increase virulence or antibiotic resistance
- Cytoplasm: contains reproductive and metabolic machinery of the cell
- Cytoplasmic membrane: flexible lipid membrane
Adaptive Immunity
- Acquired through vaccination or environmental exposure
- Requires host's immune system to develop an immunologic response
- Long-lasting, but takes days to weeks to develop
- Can provide long-term protection
Passive Immunity
- Transferred from another source
- Common source: mother to fetus (IgG antibodies via placenta and breast milk)
- Provides short-term protection (weeks to months)
Immunoglobulins
- Protein molecules also known as antibodies
- Classified into 5 categories based on their role in humoral defense mechanism
- Comprised of four-polypeptide chains with at least 2 identical antigen-binding sites
Evidence-Based Practice
- Integration of practitioner's clinical expertise with best external clinical evidence from systematic research
Prenatal Care
- Dietary recommendations to prevent neural tube defects: folic acid
Secondary Prevention
- Detects disease early when asymptomatic and treatment can cure or stop progression
- Examples: pap smear, asking about smoking, blood pressure measurement, cholesterol levels, colonoscopy
Genetic and Congenital Disorders
- Period of vulnerability: embryo's development is most easily disturbed during organogenesis (day 15-60 after conception)
- Environmental influences during the first 2 weeks after fertilization may interfere with implantation, resulting in abortion or early resorption of the products of conception
TORCH Infections
- Toxoplasmosis
- Other (varicella-zoster, listeriosis, leptospirosis, Epstein-barr virus, TB, syphilis)
- Rubella (German measles)
- Cytomegalovirus
- Herpes
- Common manifestations: growth retardation, brain abnormalities, eye and ear defects, liver and hematopoietic system disorders, lung and heart defects
Folic acid deficiency is linked to neural tube defects. Learn about the recommended daily intake and its impact on pregnancy. This chapter covers genetic disorders and inheritance patterns.
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