Cellular Functions, Adaptations, and Genetic Foundations in Human Health

What are the primary functions of cells?

Cells perform functions essential for life, including movement, secretion, and absorption.

What are cilia and their role in the respiratory system?

Cilia are extensions of the plasma membrane that exhibit coordinated whip-like motion, found in respiratory tract cells to sweep away debris and propel mucus.

What is atrophy in cellular adaptation?

Atrophy refers to the reduction in cell size, often due to decreased workload or blood supply.

What is hypertrophy?

Hypertrophy is the increase in cell size in response to increased demand, such as in muscle cells during exercise.

Define hyperplasia.

Hyperplasia is characterized by an increase in the number of cells, as seen in breast tissue during pregnancy to meet the demand for milk production.

What is metaplasia?

Metaplasia is the transformation of one type of cell into another, often due to irritation, such as in the esophagus due to acid reflux.

What is dysplasia?

Dysplasia refers to abnormal cell growth and differentiation, often seen in precancerous conditions.

What is the difference between reversible and irreversible cell injury?

Reversible cell injury can recover if the injurious agent is removed, while irreversible injury leads to cell death.

What is apoptosis?

Apoptosis is a genetically programmed process of cell death essential for maintaining tissue homeostasis.

How can failure of apoptosis contribute to cancer?

Failure of apoptosis can lead to uncontrolled cell proliferation, contributing to cancer development.

What is neoplasia?

Neoplasia refers to cancerous cells that lack normal function, divide uncontrollably, and invade surrounding tissues.

What role do telomeres play in aging?

Telomeres shorten with each cell division, limiting the ability of cells to divide and contributing to aging processes.

What is genomics?

Genomics is the study of an organism's complete set of genes and their interactions, providing insights into genetic predispositions to diseases.

What is pharmacogenomics?

Pharmacogenomics examines how genetic variations affect individual responses to medications, allowing for personalized medicine.

What is a genogram?

A genogram is a visual representation of family history that helps identify genetic risks and patterns of inheritance.

What are genes?

Genes are specific sequences of nucleotides in DNA that encode for proteins, consisting of coding sequences (exons) and non-coding sequences (introns).

How many pairs of chromosomes do humans have?

Humans have 23 pairs (46 total) of chromosomes.

What are mutations?

Mutations are changes in the DNA sequence, which can include single nucleotide polymorphisms (SNPs) and whole chromosome defects.

What is the difference between dominant and recessive alleles?

Dominant alleles express their trait with one copy, while recessive traits require two copies for expression.

What is the significance of BRCA1 and BRCA2 genes?

Defective BRCA1 and BRCA2 genes can lead to increased cancer risk.

What is trisomy 21?

Trisomy 21 is a chromosomal defect that results in Down syndrome.

What is the role of free radicals in cellular aging?

Accumulated damage from free radicals can lead to cellular aging and dysfunction.

What is glycation?

Glycation is a process where sugar molecules bind to proteins or lipids, leading to cellular damage and aging.

What are sex-linked traits?

Traits associated with genes located on sex chromosomes, often affecting males more due to having only one X chromosome.

What is multifactorial inheritance?

Inheritance that involves both genetic predisposition and environmental factors, as seen in diseases like diabetes and cancer.

Who should be offered prenatal screening?

Women aged 35 or older, those with abnormal ultrasound findings, and couples who are close blood relatives.

What does maternal serum screening test for?

Proteins produced by the placenta and fetus, including AFP, hCG, uE3, and DIA, to assess fetal risk.

What is Marfan syndrome?

An autosomal dominant disorder caused by mutations in the FBN1 gene, affecting connective tissues and leading to cardiovascular issues.

What is cystic fibrosis?

An autosomal recessive disorder caused by mutations in the CFTR gene, primarily affecting the respiratory system and pancreas.

What characterizes Down syndrome?

Trisomy 21, characterized by distinct facial features, intellectual disability, and increased risk of congenital heart disease.

What causes Huntington disease?

A mutation in the HTT gene, leading to neurodegeneration and movement disorders, typically manifesting in mid-adulthood.

What are organelles?

Specialized structures within a cell that perform distinct functions, often referred to as 'little organs'.

What is the function of mitochondria?

The powerhouse of the cell, responsible for energy production through ATP synthesis.

What is the role of the nucleus in a cell?

Contains the cell's DNA, directing all cellular activities and structural plans.

What is ischemia?

A lack of blood flow that can lead to cell death (infarction); different tissues have varying tolerance levels.

What is atrophy?

A decrease in cell size, often due to disuse or reduced blood supply.

What are telomeres?

Protective caps at the ends of chromosomes that shorten with each cell division, leading to cellular aging.

What is a karyotype?

A visual representation of an individual's chromosomes, used to identify chromosomal abnormalities.

What are dominant and recessive traits?

Dominant traits are expressed with one allele, while recessive traits require two copies for expression.

What is hyperplasia?

An increase in the number of cells, as seen in breast tissue during pregnancy.

What are SNPs?

Single nucleotide polymorphisms, which are mutations that can affect gene function and lead to diseases.

What is the significance of BRCA1 and BRCA2 mutations?

They are linked to increased risk of breast and ovarian cancer.

What is the role of maternal serum screening tests?

They indicate potential fetal problems and guide further testing.

What genetic disorder is caused by mutations in the FBN1 gene?

Marfan syndrome, which affects connective tissues and can lead to cardiovascular issues.

What are the characteristic features of Neurofibromatosis?

Presence of café-au-lait spots and neurofibromas, with specific diagnostic criteria including family history.

What is cystic fibrosis and its genetic cause?

An autosomal recessive disorder caused by mutations in the CFTR gene, leading to thick mucus production and respiratory issues.

What is Tay Sachs disease and its prevalence?

A lysosomal storage disorder caused by a mutation on chromosome 15, prevalent in Ashkenazi Jews, leading to neurodegeneration.

What causes Down syndrome?

Trisomy 21, which presents with characteristic physical features and increased health risks.

What are the symptoms of Huntington disease?

Late-onset symptoms including chorea and cognitive decline, linked to a mutation on chromosome 4.

What percentage of adult men in the U.S. are classified as obese?

32% of adult men.

What is the combined prevalence of overweight and obesity in adult women in the U.S.?

64% of adult women.

What is the significance of obesity statistics?

They indicate a potential strain on healthcare systems due to associated health risks like diabetes and heart disease.

What is the purpose of skinfold calipers in body composition assessment?

To estimate body fat percentage by measuring skinfold thickness at specific sites.

What are the recommended body fat percentages for females and males?

30% or lower for females and 25% or lower for males.

How is BMI calculated?

BMI = Weight in pounds x 703 / (Height in inches)^2.

What BMI range is considered ideal?

A BMI of 18.5 to 24.9.

What does BMR represent?

The minimum caloric requirement to sustain metabolic processes at rest.

What caloric deficit is recommended for safe weight loss?

A caloric deficit of 500 to 1,000 calories per day, leading to 1 to 2 pounds of weight loss per week.

What are some pharmacological interventions for obesity?

Antiobesity agents for individuals with a BMI of 30 or greater, or 27 with obesity-related medical problems.

What are common nutritional deficiencies?

Thiamine (beriberi), niacin (pellagra), vitamin B6 (irritability), and vitamin C (scurvy).

What characterizes anorexia nervosa?

Intentional starvation and a BMI of less than 17.5, affecting multiple body systems.

What is bulimia nervosa?

Binge eating followed by purging behaviors, often leading to electrolyte imbalances and dental issues.

What defines binge eating disorder?

Episodes of excessive eating without compensatory behaviors, often resulting in obesity.

What characterizes binge eating disorder?

Episodes of excessive eating without compensatory behaviors, often resulting in obesity.

What type of approach is typically required for treating eating disorders?

A multidisciplinary approach, including psychological support and nutritional counseling.

What is eustress?

Positive stress that can motivate and enhance performance, leading to beneficial outcomes.

What is distress?

Negative stress that can lead to anxiety, decreased performance, and health issues.

How do both types of stress affect the body?

They induce physical responses, highlighting the mind-body connection.

What is acute stress?

A short-term response to immediate threats that subsides once the threat is removed.

What is chronic stress?

Long-term activation of the stress response, which can lead to various disease states.

What does Selye's General Adaptation Syndrome (GAS) describe?

The three stages of stress response: Alarm, Resistance, and Exhaustion.

What occurs during the alarm stage of stress response?

Initiation by the sympathetic nervous system, leading to hormonal responses preparing the body for fight-or-flight.

What happens during the resistance stage of stress response?

The body copes with stress through sustained hormone secretion, gradually returning to relaxation once the stressor is removed.

What is the exhaustion stage of stress response?

Occurs when the stress response cannot be maintained, leading to physical and emotional depletion.

What is allostasis in McEwen's Stress Response Theory?

The body's ability to achieve stability through change in response to stressors.

What is allostatic load?

The cumulative wear and tear on the body due to chronic stress and the body's response to it.

What is allostatic overload?

Occurs when stress exceeds the body's adaptive capacity, potentially leading to health issues.

What are some lifestyle changes recommended for managing stress?

Reducing caffeine intake, engaging in yoga, increasing exercise, ensuring sufficient sleep, and achieving proper nutrition.

What role does serotonin play in stress management?

Serotonin levels are often depleted during stress, leading to symptoms such as gastrointestinal upset and lack of calmness.

What is the function of tryptophan in relation to serotonin?

Tryptophan is a precursor to serotonin, and its uptake in the brain is facilitated by carbohydrate ingestion.

What is obstructive sleep apnea (OSA)?

A condition characterized by repeated episodes of airway obstruction during sleep, leading to nonrestorative sleep.

What are common symptoms of obstructive sleep apnea?

Loud snoring, gasping for air during sleep, and excessive daytime fatigue.

What are some pharmacological treatments for stress-related disorders?

Sedatives, antidepressants, and medications that modulate neurotransmitters like serotonin and dopamine.

What are the benefits of regular exercise for stress management?

Improves physical health, enhances metabolic rate, promotes cardiovascular health, and raises endorphin levels.

What health risks are associated with inactivity?

Increased risk of venous stasis, musculoskeletal issues, urinary stasis, and metabolic effects.

What nursing interventions can help prevent pressure ulcers?

Repositioning patients every 2 hours, using transfer devices, and maintaining proper head of bed positioning.