5/30 Mixed Flashcards
McArdle Disease
Myophosphorylase deficiency
Glycogen storage disease type V
Causes failure of muscle glycogenolysis, resulting in decrease exercise tolerance, muscle pain and cramping, and myogobinuria with physical activity
Cutaneous, strawberry-type capillary hemangiomas
Common, benign, congenital tumors which are composed of unencapsulated aggregates of closely packed, thin-walled capillaries
Initially, they will grow in proportion to the child
Regress spontaneously at or before puberty
Typically begin to fade between ages 1 to 3
in 75%-95% of cases, these hemangiomas will have regresses completely by age 7
Lung cancer in female
Between 1950 and 2000, rising rates of tobacco use resulted in an increase in female lung cancer incidence and mortality
Lung cancer is currently the most common cause of cancer death in both women and men in the United States
Monoamine oxidase inhibitors (phenelzine, tranylcypromine, selegiline)
Helpful in patients with treatment resistant and atypical depression
Increased appetite and sleep, leaden paralysis, rejection sensitivity, and mood reactivity are hallmarks of atypical depression
Dactylitis
Painful swelling of the hands and feet
A common presentation of sickle cell disease (SCD) in young children
Sickling episodes result in hemolysis, which leads to increased indirect bilirubin and lactate dehydrogenase and decrease levels of haptoglobin (binds free hemoglobin)
Spinal accessory nerve injury
Vulnerable to injury in the posterior triangle of the neck
Injury results in weakness of the trapezius muscle, which presents with drooping of the shoulder, impaired abduction of the arm over horizontal (due to weakness in rotating the glenoid upward), and winging of the scapula
Follicular lymphoma
Non-Hodgkin lymphoma of follicular B-lymphocytes
Translocation between chromosomes 14 and 18
Causes Bcl-2 overexpression
Bcl-2 is considered a protooncogene because it has anti-apoptotic effects
West Nile Virus
Is a positive sense, single-stranded flavivirus transmitted by female mosquitos, most commonly in the summer
Neuroinvasive disease can present as encephalitis, meningitis, or flaccid paralysis
Haemophilus influenzae type B (Hib) vaccine
Is composed of cell wall polysaccharide conjugated with protein toxoid from either diptheria or tetanus
Can be given as early as 2 months and has drastically reduced the incidence of clinical disease caused by Hib, such as meningitis, pneumnia, bacteremia, and epiglottitis
Subthalamic nucleus
Plays an important role in the modulation of basal ganglia output
Damage to this structure (due to lacunar stroke) may result in contralateral hemiballism, characterized by wild, involuntary, large-amplitude, flinging movements of the proximal limbs (arm/leg) on one side of the body
Phosphodiesterase-3 inhibitors (milrinone and inamrinone)
Lead to an icnrease in intracellular cAMP concentration, which promotes intracellular calcium influx and increases cardiac contractility
An increase in cAMP concentration in the vascular smooth muscle cells also causes systemic vasodilation, which limits the use of milrinone and inamrinone in severely hypotensive patients
Cerebral amyloid angiopathy
The most common cause of spontaneous lobar hemorrhage, particularly in the elderly
Most common sites of hemorrhage include the occipital and parietal lobes
Granulosa cell tumors
Sex-cord stromal tumors of the ovary that secrete estrogen and can cause endometrial hyperplasia
Call-Exner bodies (cells arranged in a microfollicular or rosette pattern) are seen on microscopy
On gross pathology, the tumor appear yellow due to the lipid content of the theca cells
Secrete ESTROGEN
Pertussis
Should be considered as the diagnosis in any adult who has not had updated vaccination boosters
This clinical presentation is a paroxysmal cough lasting > 2 weeks that is associated with post-tussive emesis or inspiratory whoop after severe coughing episode
Hartnup disease
Can result in niacin deficiency due to an excess loss of dietary tryptophan, resulting from defective intestinal and renal tubular absorption of that amino acid
Remember that niacin (nicotinamide/Vit B3) is synthesized from tryptophan and that tryptophan is an essential amino acid
Symptoms: Ataxia, episodic erythematous and pruritic skin lesions and loose stools, loss of NEUTRAL aromatic amino acids in the urine
Latent period
Can be applied to both disease pathogenesis and exposure to risk modifiers
The initial steps in pathogenesis and/or exposure to a risk factor sometimes occur years before clinical manifestations of a disease are evident
Additionally, exposure to risk modifiers may need to be continuous over a certain period of time before influencing the outcome
Nondisjunction
Failure of chromosome pairs to separate properly during cell division. This could be due to a failure of homologous chromosome to separate in meiosis I or a failure of sister chromatids to separate during meiosis II or mitosis
If child receives 2 different bands from parents, indicates the he inherited both the their homologous chromosomes and the problem occurred in meiosis I
*Vast majority of Down syndrome cases arise due to nondisjunction during maternal meiosis I
Urachus
Remnant of the allantois that connects the bladder with the yolk sac during fetal development
Failure of the urachus to obliterate at birth results in a patent urachus, which can facilitate discharge of urine from the umbilicus
Bile acid-binding resins
Inhibit the enterohepatic circulation of bile acids
This leads to diversion of hepatic cholesterol to synthesis of new bile acids, increased uptake of cholesterol from the circulation and reduced blood LDL levels
However, bile-acid binding resins increase hepatic production of triglycerides and can cause hypertriglyceridemia
Area postrema
Chemoreceptor trigger zone (CTZ)
Dorsal medulla near the fourth ventricle
Stimulation can cause acute nausea following administration of systemic chemotherapy
Finasteride
5-alpha reductase inhibitor suppresses peripheral conversion of testosteron to DHT
Used for treatment of benign prostatic hyperplasia and androgenetic alopecia
Multiple Endocrine Neoplasia Type I Syndrome
Tumors of the pituitary (bitemporal hemianopsia)
Tumors of the parathyroid gland (hypercalcemia, renal stones)
Tumors of the pancreas (gastrinoma, etc.)
Hypertrophic cardiomyopathy
Asymmetric (septal) left ventricular hypertrophy that can result in sudden death
AD mutations affecting the cardiac sarcomere genes (Cardiac beta-myosin heavy chain gene and myosin binding protein C gene) are responsible for the majority of cases
Superantigens (Toxic Shock Syndrome Toxin)
Interact with MHC molecules on APC and the variable region of the T-lymphocyte receptor to cause non-specific, widespread activation of T cells
This results in the release of interleukin (IL-2) from the T cells and IL-1 and TNF from macrophages
This immune cascade is responsible for the manifestations of toxic shock syndrome
Polymyositis
Symmetric proximal muscle weakness
Associated with antinuclear and anti-Jo-1 (anti-histidyl-tRNA synthetase) autoantibodies
Biopsy shows an endomysial mononuclear inflammatory infiltrate and patchy muscle fiber necrosis
Polymyositis is similar to dermatomyositis but lacks the characteristic skin findings
Bone mass
Determined by peak bone mass and the rate of bone loss
The variation in peak bone mass is determined by genetic and environmental factors (nutritional status, physical activity)
African American women have high bone density and lower risk of fractures than women of other ethnicities
Rifamycins (Rifampin)
Block the action of the bacterial DNA-dependent RNA polymerase, thereby inhibiting transcription
Resistance is acquired by modification of the rifampin binding site on the bacterial DNA-dependent RNA polymerase
Common side effects include hepatotoxicity, blood dyscrasias, and harmless red-orange discoloration of body fluids
Femoral hernias
Inferior to the inguinal ligament, lateral to the pubic tubercle, medial to the femoral vein
They can present with groin discomfort or manifest with a bulge on the upper thigh
Incarceration and strangulation are common complications of femoral hernias
IgE independent mast cell degranulation
A number of medications including opioids, radiocontrast agents, some antibiotics (vancomycin) can trigger IgE independent mast cell degranulation
Common symptoms include diffuse itching and pain, bronchospasm, and localized swelling (urticaria)
Normal pressure hydrocephalus
Result of decrease CST resorption by the arachnoid granulations
Classic triad of symptoms consists of progressive gait difficulties, cognitive disturbances, urinary incontinence
Brain imaging reveals ventricular enlargement that is out of proportion to sulci enlargement
Disulfiram-like effects
Metronidazole is used to treat trichomonal vaginitis and bacterial vaginosis
It can cause disulfiram-like effects (abdominal cramps, nausea, headache) when combined with alcohol due to acetaldehyde accumulation
Germinomas
Most common pineal gland tumor
Present with obstructive hydrocephalus (aqueductal stenosis > papilledema, HA, vomiting) and dorsal midbrain (Parinaud) syndrome (limitation of upward gaze with a downward gaze preference, bilateral lid retraction, light-near dissocation)
Germinomas in the suprasellar region cause endocrinopathies due to pituitary/hypothalamic dysfunction
Long-term Lithium therapy SE
Hypothyroidism and nephrogenic diabetes insipidus
(Weight gain, dry skin, hair loss, constipation, bradycardia)
Serum TSJ levels and renal function (BUN and creatinine) should be monitored routinely
