ASSESSMENT 2026 TEST PAPER
◉ Tay-Sachs Disease affects CNS, accumulation of ganglioside causes
progressive destruction of _____. Answer: neurons and brain cells
◉ Tay-Sachs Disease symptoms. Answer: - normal at birth
- begin to manifest progressive weakness, *muscle flaccidity*, and
decrease attentiveness at 6-10 months of age
- rapid motor and mental deterioration
- seizures, visual impairment, blindness
- "cherry red spot" seen on retina a few months after birth
◉ Marfan syndrome. Answer: Inherited as an autosomal dominant
trait, meaning only one abnormal copy of the gene inherited from
one parent is sufficient to have the condition
◉ Marfan syndrome cause. Answer: Defects or deletions (pathogenic
variants) of the fibrillin-1 (FBN1) gene
◉ True or false: Marfan syndrome is a connective tissue disorder
that affects fibrillin formation. Answer: True
,◉ True or false: in Marfan syndrome, the aorta and heart valve
structures are commonly affected (heart murmur and pectus
exavatum). Answer: True
◉ Marfan syndrome manifestations. Answer: Leads to excessive
growth in height; excessively long, thin fingers and toes with
excessive joint flexibility; subluxation of the lens of the eye; and
various chest wall abnormalities, usually pectus excavatum
Sudden dyspnea with pneumothorax
Defective elastic fibers in the aorta - leads to dissecting aneurism of
the aorta and heart valve disorders
◉ Turner syndrome. Answer: A chromosomal disorder in females in
which either an X chromosome is missing, making the person XO
instead of XX, or part of one X chromosome is deleted.
◉ Testing requires for turner syndrome. Answer: Genetic testing,
hormone level evaluation, echo, bone density scan, bone age testing
◉ Turner syndrome treatment. Answer: growth hormone and
estrogen therapy
◉ Turner syndrome manifestations. Answer: - underdeveloped
ovaries (sterile)
- short stature (4'7")
,- amenorrhea
- infertility
- webbing of the neck
- edema
- underdeveloped breasts and wide nipples
- high number of aborted fetuses
◉ Respiratory rate increases during exercise. How does this
increased respiratory rate allow the body to maintain a homeostatic
pH level?. Answer: The increased exhalation of CO2 helps to increase
pH
The increased respiratory rate allows more CO2 to be exhaled. Since
CO2 reacts with water to form carbonic acid, getting rid of more CO2
through increased respiration will raise pH
◉ An ICU patient's arterial blood gas results show low pH and low
CO2 levels. The patient's respiratory rate is increased. What is the
name of this condition?. Answer: Metabolic acidosis
Since the pH is low, and the pH and CO2 are trending in the same
direction, the condition is metabolic acidosis. The low CO2 indicates
that CO2 is not causing the acidosis. The increased respiratory rate
lowers blood CO2 in an attempt to compensate for the metabolic
acidosis
, ◉ Your patient has pulmonary edema, which raises levels of CO2 in
the blood. What helps the patient's body to compensate for this
increase?. Answer: The kidneys excrete more H+ and conserve
HCO3-
The increased CO2 level will generate more carbonic acid. The body
must compensate for the decreased pH. Excreting more H+ and
conserving HCO3- will both help to increase pH.
◉ Arthritis. Answer: inflammation of a joint
◉ Osteoarthritis. Answer: inflammation of the bone and joint
◉ Most common type of degenerative joint disease, most commonly
affected are the cervical, lumbosacral spine, hip, knee, and first
metatarsal phalangeal joint. Answer: osteoarthritis
◉ Heberden and Bouchard's nodes. Answer: Small bumps that grow
on the joints, especially the fingers - telltale sign of osteoarthritis
◉ Osteoporosis. Answer: a condition in which the bones become
fragile and break easily