Patho Chapter 1

Which type of lung cancer is noted for early metastasis and is most strongly associated with a history of smoking?

Small cell lung cancer (SCLC) is noted for early metastasis and is most strongly associated with a history of smoking.

Why is the absence of a tumor marker, such as PSA or CA 125, insufficient to rule out the presence of cancer?

cancer cells may lose the ability to produce tumor markers as they migrate and diffrentiate

What is a potential lethal complication of rapidly killing a large number of cancer cells during chemotherapy or radiation?

Tumor lysis syndrome is a potential lethal complication that occurs during chemotherapy or radiation, characterized by metabolic abnormalities resulting from the rapid cell breakdown.

Which hallmark finding distinguishes Hodgkin's lymphoma from Non-Hodgkin's lymphoma upon lymph node biopsy?

Reed- Sternberg cells, the presence of these specific, large, multi-nucleated cells is the definitive feature that distinguishes Hodgkin's lymphoma from Non-Hodgkin's lymphoma. These cells are considered pathognomonic for the disease.

what are Reed- Sternberg cells

Reed-Sternberg cells are abnormal, giant multinucleated cells found in Hodgkin's lymphoma, essential for its diagnosis. They are derived from B lymphocytes and are pathognomonic for the disease.

The 'CRAB' acronym is used to identify common clinical manifestations of Multiple Myeloma. What does the 'C' represent in this context?

The 'C' in the 'CRAB' acronym represents hypercalcemia, a condition characterized by elevated calcium levels in the blood, commonly seen in patients with Multiple Myeloma.

A 24-hour urine collection for a patient suspected of having Multiple Myeloma is specifically looking for which finding?

a significant amount of monoclonal light chains (Bence Jones proteins) in the urine, indicating the presence of abnormal antibodies associated with Multiple Myeloma.

Which mechanism describes how checkpoint inhibitors work to treat certain cancers?

checkpoint inhibitors work by blocking proteins that inhibit T-cell activation, allowing the immune system to more effectively target and destroy cancer cells.

A child is born with 47 chromosomes, including three copies of chromosome 21. Which characteristic facial feature is most commonly associated with this condition?

this is trisomy 21, meaning there is an additional chromosome on chromosome 21-resulting in down syndrome. the characteristic facial feature most commonly associated with this condition is a flattened face and upward slanted eyes

In an autosomal recessive inheritance pattern, what is the probability that two carrier parents will have a child who expresses the disease?

in an autosomal recessive inheritance pattern, there is a 25% probability that two carrier parents will have a child who expresses the disease. This occurs when both parents contribute the recessive allele to the child.

Which genetic condition is caused by a missing enzyme required to break down fatty substances in the brain, leading to death by age 5?

This genetic condition is known as Tay-Sachs disease, resulting from a deficiency in the Hexosaminidase A enzyme, leading to the accumulation of GM2 gangliosides in the brain.

What is the physiological basis for the thick, viscous mucus secretions seen in patients with Cystic Fibrosis?

a defect in chloride secretion and increased sodium reabsorption. the mutation on chromosome 7 causes chloride to stay in the cells and pulls sodium and water inward, dehydrating the mucus. this results in an imbalance of electrolytes, leading to the production of thick, sticky mucus that obstructs airways and glands.

Why must infants with Phenylketonuria (PKU) avoid artificial sweeteners like Aspartame (Equal)?

infants with Phenylketonuria (PKU) must avoid artificial sweeteners like Aspartame because they cannot metabolize phenylalanine, a component of Aspartame. Accumulation of phenylalanine can lead to severe neurological damage.

An adolescent male presents with unusually tall stature, breast development (gynecomastia), and small testes. What is the most likely chromosomal arrangement?

This chromosomal arrangement, known as Klinefelter syndrome, occurs due to the presence of an extra X chromosome, resulting in the 47 XXY karyotype.

Which condition is a fatal, autosomal dominant disorder that typically remains asymptomatic until the age of 30-50?

Huntingtons disease

Which autosomal dominant disorder is caused by a mutation affecting the proteins elastin and collagen, potentially leading to a lethal aortic dissection?

Marfan syndrome. the defect in Marfan syndrome affects connective tissue leading the aorta susceptible to brain aneurysms

Why can a son not inherit an X-linked recessive disorder, such as Hemophilia, from his father?

a son inherits his X chromosome from his mother and his Y chromosome from his father, meaning he cannot receive an X-linked recessive disorder from his father.

What is the primary diagnostic indicator of Galactosemia in newborns, which necessitates immediate formula changes?

the inability to metabolize a specific sugar found in breast milk and regular formula

Which chromosomal disorder is characterized by a single X chromosome (45,XO) and prevents the individual from undergoing puberty?

Turner syndrome. turner syndrome affects females who have only one x chromosome resulting in short stature and sterile ovaries.

A patient is diagnosed with an invasive skin cancer that originates in the pigment-producing cells. What is this specific cancer called?

melanoma, a serious form of skin cancer that arises from melanocytes, the cells responsible for pigment production. this cancer is considered highly invasive.

Which condition is the most common hereditary cause of mental disability in boys and involves multiple repeats on the FMR1 gene?

fragile x syndrome. this mutation includes over 200 repeats that turn off a gene essential for normal brain development

Which electrolyte disturbance, often associated with conductive hearing loss and heart defects, was a major cause of mental retardation before mandatory newborn testing?

congenital hypothyroidism is a condition that occurs when the thyroid gland doesn't produce enough thyroid hormones, leading to various developmental issues if left untreated. this deficiency can cause intellectual disability and growth delays. this was also previously called cretinism

Which diagnostic finding is required to meet the criteria for a Multiple Myeloma diagnosis?

bone marrow aspirate showing abnormal percentage of plasma cells. a biopsy is required to estimate the percentage of malignant plasma cells present in the bone marrow and confirm the diagnosis. Typically, a threshold of at least 10% abnormal plasma cells is necessary for diagnosis.

A person with Neurofibromatosis has a what percentage chance of passing the gene to their child?

50% chance because NF is an autsosmal dominant disorder and only one copy of the mutated gene is needed for the condition to manifest.

Which symptom of Hodgkin's disease is caused by the immune system releasing extra histamine?

Pruritus, or severe itching, is a common symptom of Hodgkin's disease, resulting from the immune system's hyperactivity and the release of histamine.

What distinguishing skeletal finding is often visible on a skull X-ray of a patient with advanced Multiple Myeloma?

punched out holes appearance. myeloma cells in the marrow cause focal areas of bone destruction

what is multiple myeloma?

multiple myeloma is a type of cancer that arises from plasma cells in the bone marrow, leading to an increase in abnormal plasma cells and affecting blood cell production. It is not classified as an autosomal disorder; rather, it is a hematological malignancy.

A patient with 47,XYY karyotype (Jacob's Syndrome) is most likely to exhibit which clinical feature during their teenage years?

severe cystic acne and a tendency toward aggressive behavior. This condition is associated with increased testosterone levels. extra y chromosome does this

Which term describes a disease that is present at birth but was not inherited from the parents' genetic code?

congenital disorder resulting from developmental abnormalities. a congenital disorder is a condition that occurs during fetal development, often due to genetic or environmental factors.

Which finding is a 'late' symptom of cancer, often occurring only after the disease has progressed significantly?

pain

What is the primary pathophysiology behind the muscle weakness in Duchenne Muscular Dystrophy?

it is caused by a deficiency of dystrophin, which leads to muscle fiber damage and degeneration. This deficiency results in muscle cell membrane instability and impairment of muscle function.

Which chromosomal disorder is characterized by a 'floppy baby' with poor muscle tone and a single palmar crease?

down syndrome

what is a palmar crease in down syndrome babies

A palmar crease is a single transverse line that runs across the palm of the hand, commonly seen in individuals with Down syndrome. It is a characteristic physical feature indicating atypical development. This crease is also known as a "simian line" and may be associated with genetic conditions.

What is the main drawback or limitation of using tissue-specific tumor markers like PSA for cancer screening?

tissue-specific tumor markers like PSA can lead to false positives or negatives, resulting in unnecessary biopsies or missed diagnoses. They may not accurately reflect the presence or progression of the disease in all individuals.

Which genetic condition is an 'Inborn Error of Metabolism' (IEM) resulting in the inability to convert phenylalanine into tyrosine?

Phenylketonuria (PKU)

How does the 'Oat Cell' variant of lung cancer differ in prognosis from Non-Small Cell Lung Cancer (NSCLC)?

The 'Oat Cell' variant, also known as Small Cell Lung Cancer (SCLC), typically has a poorer prognosis compared to Non-Small Cell Lung Cancer (NSCLC) due to its aggressive nature and tendency to metastasize quickly.

Which condition causes an enlarged liver and spleen (hepatosplenomegaly) because they become 'engorged' with immature white blood cells?

Leukemia, particularly acute leukemia types, leads to hepatosplenomegaly as immature white blood cells accumulate.

For a person with Huntington's Disease who wishes to have children without passing on the gene, what is the only 'sure' medical option identified?

IVF with embryo screening for the HD gene