- Results from failure to phosphorylate mannose residues onto mannose-6-phosphate at cis Golgi - Deficiency in N-actylglucosamine phosphotransfersase - Default exocytosis, rather than proper targeting to the lysosome

Myasthenia Gravis (worse near end of day or after exercise) - Present with diploplia or ptosis - 15% will have bulbar symptoms (dysarthria, dysphagia, and difficulty chewing) - Distal limb weakness (most common)

RX Flash 253 Flashcards by Keegan Sturgill

Only output cell of the cerebellum (inhibitory)
Use gamma-aminobutyric acid (GABA)
Cerebellar atrophy can result from depletion of B1 (thiamine)→ seen in beriberi and Wernicke-Korsakoff

Purkinje Cells

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I-Cell Disease (AR)

Results from failure to phosphorylate mannose residues onto mannose-6-phosphate at cis Golgi
Deficiency in N-actylglucosamine phosphotransfersase
Default exocytosis, rather than proper targeting to the lysosome

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Hemolytic anemia
Leukopenia
Arthralgia (without joint deformity)
Skin rashes (malar or sun-exposed areas)
Renal disease
Libman-Sacks endocarditis
Neurologic symptoms
LAD (cervical, axillary and inguinal areas)

SLE symptoms

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Anti-AChR antibodies

Myasthenia Gravis (worse near end of day or after exercise)

Present with diploplia or ptosis
15% will have bulbar symptoms (dysarthria, dysphagia, and difficulty chewing)
Distal limb weakness (most common)

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Anti-Scl70 antibodies

Diffuse systemic sclerosis or scleroderma (70%)
Features include: fibrotic changes in organs (GI, Lungs, Kidneys, and Heart)
Raynaud phenomenon (earliest symptom)
Perioral and jaw tightness (without swelling)

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What is the most common inherited primary immune deficiency?

IgA deficiency

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What is the most common subtype of kidney disease in SLE patient?

Diffuse proliferative glomerulonephritis (DPGN)
Type III hypersensitivity reaction
Immune complexes accumulate in the subendothelium and activate compliment
Characteristic wire looping appearance on electron microscopy

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Treatment for DPGN (seen in lupus)

Cyclophosphamide (immunosuppressive agent)+ glucocorticoids (prednisone) for more severe lupus complications like DPGN
Reduces titer of autoantibodies

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Molar pregnancy Triad?

-Triad: Hyperemesis, vaginal bleeding, and hyperthyroidism

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Skin, bone, tendons, eyes, ears, and teeth
High tensile strength
Defective in Osteogenesis Imperfecta (AD)

Type I collagen

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Hemolytic-uremic syndrome (HUS) triad

-Hemolytic anemia
-Thrombocytopenia
-Acute renal failure
Note: treating someone with E. Coli w/antibiotics is bad because increases HUS risk

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Occurs when a cell takes up DNA from a donor cell

Transformation

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Benign Prostatic Hyperplasia (BPH)

Nodular enlargement of the periurethral lobes that compress the urethra
Presents with increased urinary frequency, nocturia, and difficulty starting and stopping.
Can develop AUR (acute urinary retention): presents w/ sudden inability to pass urine and lower abdominal/Suprapubic pain. A FOLEY CATHETER relieves the obstruction and alleviates symptoms

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-Onset of visual, auditory and tactile hallucinations 12-24 hours after consumption of last alcoholic drink

Alcoholic hallucinosis

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Delirium tremens (DTs)

Begins 48-96 hours after the most recent drink
Lasts 1-5 days
Autonomic instability, hallucinations (visual or tactile), delirium, tachycardia, hypertension, fever, agitation or lethargy and diaphoresis
5-20% mortality due to cardiac arrhythmias
Tx: Benzodiazepines, hydration and supportive car

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Increased aldosterone secretion
Most common cause is an adrenal adenoma (w/lipid laden clear cells)
Failure to suppress aldosterone with salt loading

Primary hyperaldosteronism (Conn Syndrome)

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Drainage of adrenal glands:

Right= Right adrenal vein→ IVC
Left= Left adrenal vein→ Left renal vein→ IVC
Gonadal veins mirror this:
Right gonadal vein→ IVC
Left gonadal vein→ left renal vein→ IVC

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Symptoms of Iodine deficiency include:

retardation and growth delay; bone age will appear less than patients actual age

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Separates molecules based on sizes
Negatively charged DNA migrates in the electric field toward the positive end.
Small particles move far and fast

Gel electrophoresis

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-Labeled antibodies are used to detect whether the serum contains antibodies against a specific antigen precoated on ELISA plate

ELISA

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-RNA is separated by electrophoresis

Northern blot

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Used to produce many copies of a segment of DNA
Two specific primers, deoxynucleotides and a heat stable polymerase
Solution is heated→DNA denatures→cooled→reannealing and synthesis
20 cycles amplifies DNA more than a million times

PCR

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Sound of alveoli opening and closing during respiration
Occurs in pneumonia (fine) and congestive heart failure (wet)
In addition to crackles, pneumonia (lobar) will have dullness to percussion (consolidation) and increased fremitus (consolidation)

Crackles

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Decreased resonance to percussion, no breath sounds (over right lung usually) and decreased fremitus

Bronchial obstruction

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Decreased fremitus and dullness to percussion

Pleural effusion

Hyperresonance to percussion and absent fremitus

Pneumothorax

- Deficiency in homogentisic acid oxidase→ results in accumulation of homogentisic acid - Homogentisic acid is secreted in urine (turns urine black due to oxidation) - Asymptomatic until mid adulthood - Pigment and cartilage build up become visible and arthritic changes begin to manifest (often suffer from join pain) - Brownish-gray deposits in the sclerae and ears - Pigment also accumulates on heart valves and in kidney causing nephrolithiasis - Not life threatening but severely disabling

Alkaptonuria (AR)

- Increase in urine and serum homocystine - Most common cause is deficiencies in cystathionine synthase - Mental retardation, optic lens dislocation, osteoporosis, and heart complications early in life

Homocystinuria (AR)

Nephrolithiasis and “staghorn” calculi

Cystinuria (AR)

Maple Syrup Urine disease/ Branched-Chain Ketoaciduria

- Deficiency of branched-chain keto acid dehydrogenase (inability to break down branch chain amino acids) - Mental retardation, seizure disorder, and feeding problems early in life - I Love Vermont Maple Syrup

Where is murmur of tricuspid valve endocarditis best heard?

Over the left fifth intercostal interface, just lateral of sternal boarder

Refers to ability of a pathogen to establish infection In the setting of accidental needle sticks the risk of being infected of the following is as follows: Hepatitis B (30%)>Hepatitis C (10%)>HIV (0.3%- 0. 45%)

Infectivity

Edwards Syndrome (Trisomy 18)

-47XY (trisomy 18) -Mental retardation -Rocker bottom feet -Low-set ears -Micrognathia (small jaw) -Congenital heart disease -Clenched hands with overlapping finger -Prominent occiput DO NOT LIVE PAST ONE YEAR

Patau’s Syndrome (Trisomy 13)

-47 XY (trisomy 13) -Severe intellectual disability -Microopthalmia -Microcephaly -Cleft-lip/palate -Abnormal forebrain structures -Polydactyly -Congenital heart disease DO NOT LIVE PAT ONE YEAR

- Infects the small intestine, thereby causing lactose intolerance - Trophozoite form proliferates in intestine - Symptoms due to loss of brush border enzymes and progressive blunting of villi

Giardia lamblia

- Usually occurs do to folate or vitamin B12 deficiencies | - Alcoholism, liver disease, certain drugs (hydroxyurea and methotrexate)

Macrocytic anemia

- PIG-A GPI anchor mutation - Hemosiderin in urine - Triad: Coombs (-) hemolytic anemia, pancytopenia, and venous thrombosis - CD55/59 (-) RBCs - Tx: Eculizumab

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Fluconazole toxicity

- Nausea, vomiting, abdominal pain, diarrhea | - Sever cases hepatotoxicity and hypokalemia

- Nevirapine, delavirdine, efavirenz | - ADR: Rash and Hepatitis

Nonnucleoside reverse transcriptase inhibitors

Duodenal ulcer disease

- Burning epigastric pain that occurs in absence of food - Gastroduodenal artery at risk for perforation - H.pylori = 90% (only 60% in gastric ulcers) - H.pylori can be test with sampling of exhaled air for presence of ammonia from cleaved urea (the urea breath test)

- Common cause of neonatal conjunctivitis | - 2-5 days after birth

Neisseria gonorrhoeae

- AD - Mismatch repair - Colorectal cancer (40-45 years old) - High risks for: endometrial, ovarian, urinary tract, small intestinal, stomach, and biliary cancer.

HNPCC (Lynch Syndrome)

KISS and KICK until your SICK of SEX

``` KISS= QISS= a1, a2, b1, b2 KICK= QIQ = M1, M2, M3 SICK= SIQ= D1, D2, H1 SEX= SQS (super qinky sex)= H2, V1, V2 ```

- 5-14 days after birth | - Treat with oral and topical erythromycin to prevent → PNEUMONIA (most feared)

Chlamydial (inclusion) conjunctivitis

17beta-Estradiol is synthesized in ovarian follicles Granulosa cells via aromatization of testosterone stimulated by what?

FSH

- Compression of median nerve - Often caused by synovitis. - Tinel’s sign (tingling along nerve with tapping)

Carpal Tunnel Syndrome

What muscles does the median nerve (in hand) supply?

Three thenar muscles

What are the actions of the thenar muscles? (Oaf)

``` Oaf (a and f are lower case because they are brevis) -Oppose Abduct Flex (Opponens Pollicis) (Abductor pollicis brevis) (Flexor pollicis brevis) ```

Amiodarone ADRs (class III anti-arrhythmic)

Pulmonary fibrosis Hepatotoxicity Hypothyroidism

What is somatization?

A process by which an individual uses his or her body or symptoms for a range of psychological purposes and gains

``` Manic episodes (periods of elevated or irritable mood that must last at least 1 week) -May have depressive episodes or symptoms but this is NOT part of diagnostic criteria ```

Type 1 bipolar disorder

What are the group B personality disorders? (WILD…with a genetic association with mood disorders and substance abuse)

1) Anti-social- conduct disorder if less than 18 2) Borderline—(Brandon Marshall)- Splitting is major defense mechanism (Tx: dialectical behavior therapy) 3) Histrionic (Maddie) 4) Narcissistic (Kanye West)

What is another name for Kawasaki Disease?

Mucocutaneous Node Disease

Azathioprine

- RA | - Anti-rheumatic drug (disease-modifying)

What are the TNF-alpha inhibitors?

- Etanercept (RA, psoriasis, ankylosing spondylitis) | - Infliximab, adalimumab (above + IBD)

Exacerbate tuberculosis by antagonizing TNF

- TNF plays important role in granuloma formation and stabilization - TNF-alpha inhibitors (Etanercept, Infliximab, Adalimumab)

Risedronate

- Bisphosphonate | - Used in prevention and treatment of osteoporosis

What drugs are ligands for PPAR-alpha (a receptor that regulations the transcription of genes involved in lipid metabolism)?

- Fibrates (ex: Gemfibrozil) - Increased expression of lipoprotein lipase on endothelial cells→ increased clearance of triglyceride rich lipoproteins - Fatty acid uptake and breakdown by beta-oxidation - 35-50% decreases in triglycerides

Broca’s (expressive) aphasia

- Difficulty enunciating words - Can understand both written and verbal language - Frustration because they know they have a defect (Unlike Wernicke’s aka Receptive) - LEFT MIDDLE CEREBRAL ARTERY

Achondroplasia

- FGR-3 mutation | - Abnormal endochondral ossification

- Mimics the appearance of PML, but… - ENHANCING PERIVENTRICULAR WHITE MATTER LSEIONS IN CORTICAL AND SUBEPENDYMAL REGIONS - Histology: EOSINOPHILIC inclusions in both cytoplasm and the nucleus

CMV encephalitis

Toxoplasmosis lesions in brain are usually located where?

- Corticomedullary junction - Tx = sulfadiazine/pyrimethamine or trimethoprime/sulfamethoxazole - Multiple enhancing lesions on MRI

Acute Intermittent Porphyria (AIP)

- Lack of porphobilinogen deaminase | - Build up of aminolevulinate and porphobilinogen lead to symptoms

Acute Intermittent Porphyria (AIP) symptoms

-ABDOMINAL PAIN, neuropathy, high sympathetic tone, muscle weakness, and neuropsychiatric disturbances (seizures, paranoia, depression, and anxiety)

The mandibular division the trigeminal nerve exits the skull via…

Foramen Ovale (V3)

``` V1= Superior orbital fissure V2= Rotundum V3= Ovale ```

Foramina of the trigeminal nerve divisions: Standing Room Only (SRO)

Common symptoms of craniopharygiomas

- Early morning headaches and N/V (increased ICP) - ENDOCRINE dysfunction - Increased thirst and urination due to diabetes insipidus (pituitary-stalk dysfunction 10-20%) - Stunted growth (decrease growth hormone) - Visual disturbances - Tx: surgery or radiation

Where are ependymomas located and what can they cause?

Fourth ventricle and hydrocephalus

Cisplatin Side Effects:

- Nephrotoxicity (hydrate to prevent kidney damage) | - Acoustic nerve damage

Nephrotoxic Chemotherapy agents

- Streptomycin - Cisplatin - The nitrosoureas - Methotrexate - Mithramycin - Cyclophosphamide

5-FU ADRs

- Emesis - Myelosuppression - Alopecia

Doxorubicin ADRs

- Cardiotoxicity - Myelosuppression - Alopecia - GI

Etoposide ADRs

- Myelosuppression - GI distress - Alopecia - OVARIAN FAILURE

RX Flash 253 Flashcards

(73 cards)