FA Findings Flashcards by chioma Amako

Rare disorder arising secondary to Failure in Oxidative Phosphorylation. Tissues with increased energy requirements are affected like CNS, skeletal muscle

Mitochondria Disease

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Type of Mitochondrial Myopathies

MELAS: Mitochondria encephalomyopathy with lactic acidosis and stroke like episodes
MERRF: Myoclonic epilepsy with ragged red fibres. Light microscopy with stain: ragged red fibres due to compensatory proliferation of mitochondria. Electron microscopy: mitochondria crystalline inclusions

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This is a mitochondria inherited disease. Mutation in Complex ___________ of the ETC causes neuronal death in retina and optic nerve —-> subacute bilateral vision loss in teens/young adults (Male > female) and may be accompanied by neurologic dysfunction (tremor, MS-like illness)

Mutation in complex 1 of ETC

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Which trisomy is associated with microcephaly, microphthalmia, cleft palate, Cutis aplasia, holoprosencephaly, extra digit, polycystic kidney disease, and omphalocele

Patau- Trisomy 13

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Defection in fusion of prechordal Mesoderm—-> midline defects (SHH protein is what’s responsible for symmetry/making a midline )

Patau

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Rocker-bottom feet, cleft lip/palate, holoprosencephaly (no separation in forebrai, polydactyl, cutis aplasia (no skin top of head

Patau - 13

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Menke’s disease is associated with what step of collagen synthesis?

Cross linking - reinenforcement of staggered tropocollagen molecules by covalent lysine- hydroxylsine cross-linkage by COPPER containing LYSYL oxidase to make collagen fibres

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Which Amino acid residue is glycosylated in collagen synthesis?

Hydroxylysine (Pro-alpha-chain residue)

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Which enzyme and cofactor are required for the cross-linking of tropocollagen molecules?

LYSYL oxidase and Copper

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What two abnormalities are seen in Elastin synthesis?

Marfan Syndrome and Homocysteinuria

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What are the differences between Homocysteinuria and Marfan Syndrome in ELASTIN abnormalities?

Marfan syndrome: AD, Normal intellect, Aortic root dilatation/aneurysm rupture or dissection( MCC of Death) upward/temporal lens dislocation (Marfan Fans out). fibrillin-1 (forms sheaths around TGF-B) defective gene due to FBN1 mutation on chromosome 15.

Homocysteinuria: AR, decrease intellect, vascular complication: Thrombosis; lens dislocation: Downward/nasal

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What are the differences between Homocysteinuria and Marfan Syndrome in ELASTIN abnormalities?

Homocysteinuria: AR, decrease intellect, vascular complication: Thrombosis; lens dislocation: Downward/nasal

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Which 3 key amino acids compose both Collagen and elastin?

Glycine, Proline and Lysine.

Nonhydroxylate form of proline/lysine- Elastin

Hydroxylate form of proline/ lysine in Collagen synthesis

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Which protein provides a scaffolding for elastin and sequester of TGF-beta?

Fibrillin

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Which necrosis is seen in the aorta of patient with Marfan syndrome?

Cystic medial necrosis

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What causes the increased risk of thrombosis in pts with a cystathionine synthesis deficiency?

Decreased cystathionine synthase (homocystinuria) —-> Increased homocysteine—-> thrombotic risk

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How does a defect in Fibrillin-1 lead to characteristic findings of Marfan syndrome

Defective fibrillib-1—> release of sequestered TGF-B and lack of scaffold for elastin —-> skin, skeletal, heart, and eye findings.

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Explain the synthesis of Insulin

Preproinsulin is synthesized in the RER of pancreatic Beta cells ——cleavage of pesignal—-proinsulin (store in secretory granules——cleavage of proinsulin——exocytosis of insulin and C-peptide equally

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What are increases in endogenous insulin secretion? What is does exogenous insulin secretion lack?

Insulin and C-peptide are increased in Endogenous insulin secretion and Exogenous insulin Lacks C-peptide

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Insulin-dependent glucose transporters

GLUT 4: adipose tissue, straited muscles

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Insulin-independent transporters: BRICK LIPS

Brain (glut 1, 3) , RBC (1), Intestine (2) Cornea (1), Kidney (2), Liver (2), Islet (Beta) cells (2), placenta (1, 3), Spermatocyte (5)

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Patient with PKU should avoid the artificial sweetener ____________ which contains phenylalanine

Aspartame

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Congenital deficiency of HOMOgentisate oxidase in the degradative pathway of Tyrosine to Fumarate causing pigment forming homogentisic acid build up in tissue.

AR and usually benign

Findings: bluish-back connective tissue, ear cartilage, and sclerae. URINE TURNS BLACK ON PROLONGED EXPOSURE TO TO AIR. May have debilitating arthralgias (Homogentistic acid is toxic to cartilage

Alkaptonuria

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Causes of Homocystinuria

Cystathionine synthase deficiency (Tx: decrease methionine, increase cysteine, increase B6, B12 and folate in diet)
Decrease affinity of cystathionine synthase for pyridoxal phosphate (Tx: B6 and increase cysteine in diet)
methionine synthase (homocysteine methyltransferase) deficiency (Tx: increase methionine in diet)
methylenetetrahydrofolate reductase (MTHFR) deficiency (Tx: increase folate in diet)

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Rate limiting step for amino acid derivatives

Tyrosine Hydroxylase

————- is an excitatory neurotransmitter and ————— is inhibitory?

Glutamate is excitatory and GABA (Gamma-aminobutyric acid) is Inhibitory

What are the two infections implicated in Kartagener syndrome aka Primary Ciliary Dyskinesia?

Pseudomonas and Mycobacterium avium infections

diagnostics of Cystic Fibrosis

Sweat test= Pilocarpine on skin —-> high chloride in sweat = Positive CF

Recurrent respiratory infections due to inability to clear thick mucus is associated with? __________ what are to two main infections associated with the disease

CF; staph Aureus (Childhood); Pseudomonas (Adult)

Cystic Fibrosis causes infertility in Males due to ————— and not sperm mobility issues like in Kartagener) and in females due to —————-

Absent Vas Deferens; Abnormal thick cervical mucus in women

Vitamin E anemia is ————— while vitamin B12 anemia is ————- both vitamins have similar neurological presentations

Hemolytic anemia; Megaloblastic anemia (hypersegmented neutrophils and high serum methylmalonic acid levels.

Hemolytic anemia, acanthocytosis, muscle weakness, demylination of posterior columns (decrease proprioception and vibrations sense) and spinocerebellar tract (ataxia) and closely mimics Friedreich ataxia —— WHAT VITAMIN is complicit?

Vitamin E Excess vitamin E can cause enterocolitis in infants either excess of vitamin E

High dose of Vitamin ——-supplementation may alter metabolism of vitamin K- dependent proteins (Factor 2, 7, 9, 10; protein C/S) this leads to enhance anticoagulant effects if Warfarin

Vitamin E

What are the names of the 2 main forms of vitamin E ?

Tocotrienol and Tocopherol

What is the biochemical mechanism of Vitamin E?

Vitamin E protects polyunsaturated fatty acids (PUFA) in membrane from Oxidation

How can folate(B9)deficiency be differentiated from Cobalamin (B12)

B9: Jejenum, plant B12: Ileum, red meat B9 deficiency: normal Methylmalonic acid and no neurologic symptoms B12 deficiency: elevated MMA levels and may present with neurological symptoms

What vitamins is crucial for the synthesis of Nucleotides (RNA, DNA)

Folate B9 and Cobalamin B12

Any mention of bone issues in lysosomal disease is _____________

Gauchers; AVASCULAR Necrosis of the Femur

Which lysosomal storage disease goes with “Oh my Gauch he’s such a BRO: crying while wiping with tissue paper”

Gauchers; Absence of B-glucocereBROsidase; Lipid laden macrophages = crumpled paper looking macrophages

What Enzyme deficiency and Substrate accumulation is found in Tay-Sachs? Hint: Gang of 6 small Jews

HEX(6)osaminidase A deficiency; GM2 ganglioside build up. Remember NO hepatosplenomegaly in TaySachs but there’s in Neiman picks

Fabry’s mnemonic: My Fabrite activity is CERAMIC we made in Galaxy

Fabre: Galactosidase deficiency; buildup of Ceramide

Krabbe’s Mnemonic: Bro that Krab is Out of this world

Galato: out of this world (GalactocereBrosidase) Buildup Galactocerebroside

————— inhibits Complex IV of the ETC (Cytochrome C oxidase ) and has a BITTER ALMOND SMELLING BREATH aka Acrid odor

Cyanide

How many Net ATP are produced via malate- aspartate and glycerol-3 phosphate shuttle respectively by the aerobic metabolism of 1 glucose molecule

32 net ATP via malate- asparatate shuttle and 30 net atp via glycerol 3 phosphate shuttle

How many ATP does an anaerobic glycolysis of 1 glucose molecule produce?

2 net ATP

—————— is an intermediate produced in the Kreb cycle that has a role in the regulation of glycolysis by inhibiting the action of Phosphofructokinase-1

Citrate

How to treat Cyanide poisoning?

Hydroxocobalamin or sodium thiosulfate

True or False: Aspirin is a decoupled, causing Hypetthermia if built up?

True

A TB drug that inhibits the formation of the mycobacterial cell wall preventing arabinosyl transferase from linking to the mycolic acid to the peptidoglycan complex via the arabinogalactan linker

Ethambutol - Ethan the Arab is color blind

A Tb drug that can be given Isolated Inhibits CYP450 Inhibits mycolic acid synthesis by binding to KatG Causes Peripheral Neuropathy -tingling of hands and feet and seizure Prevent peripheral neuropathy by giving Pyridoxine B6

Isoniazid

A TB drug of unknown MOA causes gout and hyperuricemia

Pyrazinamide

A TB drug that’s a DNA dependent- RNA polymerase inhibitor that RAMPs up CYP450. Red/Oranfe colored urine

Rifampin

True or False: RIPE therapy for TB causes liver toxicity?

True

Why are the 4 TB drugs (RIPE) used at the same time?

To prevent Resistance

Drugs that causes hemolysis in G6PD deficiency (high yield)

Nitrofurantoin, Sulfa, Primaquine, dapsone

Narrate the G6PD deficiency story?

NADPH is necessary to keep Glutathione reduced, which in turn detoxifies free radicals and peroxides. A decrease in NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents (Fava beans, sulfonamides, Nitrofurantoin, primaquine). G6PD deficiency is an X-linked disorder and more prevalent among descendants of population in malaria endemic regions (sub Saharan Africa, SE Asia) Heinz bodies are denatured globin chains precipitate within RBCs due to oxidative stress. BITE cells results from the phagocytic removal of Heinz bodies by splenic macrophages

what are the characteristics features of Pseudomona Aeruginosa?

Catalase +, oxidase +, gram - rod with motility, aerobic

What product of Pseudomonas aeruginosa causes degradation of cell membrane?

Phospholipase C

What are the virulence factors produced by pseudomonas Aeruginosa? Hint: PEEP

Phospholipase C (Degrades cell membrane); Endotoxin (Fever and shock), Exotoxin A( inactivated EF-2); Pigment (Green pigment)

Most common cause of Otitis Externa?

Pseudomonas Aerginosa followed by staphylococcus aureus

First line drugs for Pseudomonas? Hint: PCCG

Piperacillin, ceftazidime, cefepime, gentamicin

What are the antimicrobial drugs that cause disulfiram like reaction?

Sulfa, metronidazole, cephalosporin, griseofulvin

What does Disulfiram do?

Disulfiram inhibits aldehyde dehydrogenase causing a build up of acetaldehyde- a molecule that makes you hangover - facial flushing, vertigo, headache, nausea, tachycardia, hypotension

Antimicrobial drugs not to give to pregnant women?

TETRAcYclines (bone deformity and yellowing of teeth), Aminoglycosides, pyrazinamide, sofosbuvir, primaquine

Antimicrobial that activates, induces CYP450?

RIFAMPIN , griseofulvin, efavirenz, NEVIRAPINE

Antimicrobials that inhibits CYP450

Clarithromycin/Erythromycin, Floxacin, isoniazid, azoles, cobicistat

Antimicrobial that causes C.diff

Clindamycin, ampicillin, Ciprofloxacin

Antimicrobial that treats C.diff

Vancomycin (DOC), fidaxomicin, metronidazole (2nd line)

DOC for strep pyogene (GroupA) and strep agalactiae (group B strep)

Penicillin G shot

DOC for Pneumonia Jiroveci (fungus infection In Immunocompromised)

TMP-SMP, Atovaquone

DOC Lyme disease

Tetracycline is early, amoxicillin if late

DOC Neisseria Meningitides

Ceftriaxone + Azithromycin, tetracycline

Neisseria Gonorrhea DOC

Nitrofurantoin, Ceftriaxone

Lower UTI/Cystitis

TMP-SMX, Ceftiraxone, Nitrofurantoin(Cystitis)

Yersinia Pestis (Plague) DOC

Macrolides

True or False: Ecoli is part of the normal flora of the GIT and is the most common cause of UTI in ambulatory young women along with Staphylococcus Saprophyticus

True

The most infective form of Chlamydia is?

The extracellular elementary body, Reticulate body is intracellular

True or False: SLE gives false positive Reagin test (rapid plasma Reagin)

True

Antibiotic Treatment of Little Twirling Bacteria aka Spiral shaped bacteria- Spirochete (Lepospira, Treponema (syphilis), Borrelia(Lyme)) can cause what?

Jarisch-Herxheimer reaction- Flulike symptoms (fever, chills, headache, myalgia)

This spinal cord lesion below is associated with

Tertiary Syphilis (Tabe dorsalis) degeneration/demyelination of Dorsal Columns and root. Impaired Propriception- poor coordination

Erythema multiforme

Target lesions associated with HSV1

What are the locations in the brain for these infections: Rubella HSV Tabe Dorsalis TB Hippocampus

Frontal - Rubella Temporal- HSV Syphilis (Tabe dorsalis)- Dorsal Column TB- Posterior toxo- Parietal Hippocampus - Rabies

What are the locations in the brain for these infections: Rubella HSV Tabe Dorsalis TB Hippocampus

Frontal - Rubella Temporal- HSV Syphilis (Tabe dorsalis)- Dorsal Column TB- Posterior toxo- Parietal Hippocampus - Rabies

Acyclovir requires viral ————-to phosphorylate and activate it. Mutation in thymidine kinase causes resistance

Thymidine Kinase is needed

HCV drugs and MOA

Antimicrobials to Avoid in Pregnancy: Safe Children Take Really Good Care

A defect in NADPH oxidase, leading to defective phagocytosis of catalase- positive organisms, pt has recurrent bacterial and fungal infections, TX with interferon Gamma, CD18 negative on Cytometry

Chronic Granulomatous Disease

Absent of integrity CD18 protein causing defective leukocyte migration and chemotaxis (C5a, IL-8, LTB4) . Presents with recurrent infections and poor wound healing (abscesses, gingivitis, skin ulcers) in the absence of pus. Marked neutrophilia, normal or elevated wBC, delayed umbilical cord separation 4weeks after birth.

Leukocyte adhesion deficiency

Several deficiencies of Both T and B cells leading to opportunistic infections and recurrent infections in infancy does not have neutrophil migration defects

SCID

Recurrent skin abscesses, elevated IGE levels, eczema,. Deficiency of Th17 cells due to STAT3 mutation and impaired recruitment of neutrophils to site of infection. Increase IgE, increased Eosinophils- presents ABCDEF to get Job STAT: staph Abscesses, Retained baby teeth, Coarse facies, Dermatologic problems (eczema) increase IgE, bone fractures from minor trauma.

Hyper IGE syndrome -Job Syndrome

Defect in ATM gene—-failure

Ataxia- Telangiectasia

Which immunodeficiency is this?

Selective IgA deficiency

SCID Types

List the encapsulated bacteria. Hint Please SHiNE my SKiS or Please Excuse Sarah’s Naughty Small Krab, Henry

No spleen Here—- Decrease opsionizing and increasing risk for severe infections

Neisseria Meningitidis Strep Pneumonia H. Influenzae

Chloroquine resistance to falciparum

Use Mefloquine

Humans are not the definite host- Humans are the Vector, Mosquitos ARE the definite host as reproduction happens in the mosquito’s gut. True or false?

True

How do you tell apart Malaria from Babesia?

Malaria - Anopheles (Africa, s. America) - plasmodium. Rings, schizonts or gametocytes. Trophozoite is the infective form that can enter the red cells. Babesia—-ticks Massachusetts/ Northeast, maltaese rings or crosses

True or False: Mycoplasma pneumonia causes Cold Agglutinins that cause red cell agglutination at cold temps (blue cold fingers tips) = autoimmune hemolytic anemia

True

**Allergy/ Anaphylaxis **IgE mediated IL-4 triggers production of IGE Release of Histamine (vasodilator), tryptase which activates more mast cells, and leukotrienes) **IgA deficiency causes you to have anaphylaxis if you are transfused with plasma (since IgA is present in the donor’s plasma

Type 1 hypersensitivity

**Classic antibody- antigen binding **IgG mediated **Coomb test (A positive coomb test means there’s some kind of antibody bound to the surface of red cells **Hemolytic disease of the fetus and new born

Type 11

Define hemolytic disease of the fetus and newborn?

Treat with Rhogram (Immunoglobulin against Rh) - this med kills any fetal red cells that are in maternal circulation BEFORE the mom’s immune system even has a chance to produce antibodies. It is also given prophylactically to any pregnant Rh- mom

Delayed Allergic T-cell mediated (Not antibody mediated) B7 on dendritic cells activate Tcells by binding to their CD28 Type 4= 4Ts T cell mediated Transplant rejection Tuberculosis skin test Touching (contact dermatitis, poison ivy/nickel) Sjorgen is type of this HSR

hypersensitivity type 4

Summary of hypersensitivity reactions and their pathophysiology

Histamine acts via H1 receptors to induce vasodilation and increase vascular permeability… they are GPCRS that activates a Gq alpha subunit resulting in an intercellular signaling cascaded characterized by the activation of ——————-

Phospholipase C

What are the types of transplant rejections? HACG

FA Findings Flashcards

(106 cards)