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Countless SAFE Moms Take Really Good Care

Clarithromycin

Sulfonamides

Aminoglycosides

Fluoroquinolone

Erythromycin

Metronidazole

Tetracycline

Ribavirin

Griseofulvin

Chloramphenicol

Mnemonics

The 5 Cyanotic Congenital Heart Defects are as easy as 1, 2, 3, 4, 5.

One big trunk: Truncus arteriosus.

Two interchanged vessels: Transposition of the Great Vessels.

Three: Triscuspid Atresia.

Four: Tetralogy of Fallot.

Five words: Total Anomalous Pulmonary Venous Return.

http://firstaidteam.com/4116/mnemonic-monday-cyanotic-congenital-heart-defects?utm_source=feedburner&utm_medium=email&utm_campaign=Feed%3A+firstaidteam+%28firstaidteam.com%29

#Mnemonics #cardiovascular

Tachyphylaxis

Decreased drug response due to repeated administration.

E.g. Ephedrine for nasal decongestant

: indirect sympathomimetic -> vasoconstriction to treat rhinitis

-> causes rebound rhinitis after >3d of use

Heart

Inotropy - Contractility

Chronotropy - HR

: "Chrome HeaRt"

Dromotropy - Conduction velocity

: "Drocon"

↑ by ß1-adrenergic R, ↓ by muscarinic R.

#physio #cardiovascular

AD vs. AR vs. XL

Autosomal Dominant Diseases

 Achondroplasia

: FGF-R on Chm 3, Dwarfism

 ADPKD

: PKD gene on Chm 16, enlarged kidneys

 FAP

: APC gene on Chm 5, adenomatous polyps -> may progress to colorectal CA

 Familial hypercholesterolemia (Hyperlipidemia type IIA)

: LDL-R absent, ↑LDL

 Hereditary hemorraghic telangiectasia (Osler-Weber-Rendu syndrome)

: Dilated blood vessels

 Hereditary Spherocytosis

: spectrin, ankyrin defect, hemolytic anemia

 HD

: (CAG)n on Chm 4, dementia, depression, choreiform movements, caudate atrophy

 Marfan's syndrome

: Fibrillin gene, hyperextensible joints, arachnodactyly, aortic incompetence, acsubluxation of lens

 MEN

: Tumors in endocrine glands, ret gene problem (2A,2B)

 NF type 1

: Chm 17, Cafe-au-lait spots, Lisch nodules

 NF type 2

: NF2 gene on Chm 22, acoustic schwannoma, juvenile cataracts

 Tuberous Sclerosis

: Adenoma sebaceum, "ash-leaf spots"

 VHL disease

: VHL gene on Chm 3, hemangioblastomas of retina/cerebellum/medulla

---

Autosomal Recessive Diseases

Ø Albinism

Ø ARPKD

Ø CF

: CFTR gene mutation (Phe 508 deletion on Chm 7) -> defective Cl- channel

Ø Glycogen storage disease

Ø Hemochromatosis

Ø Mucopolysaccharidoses (cept Hunter's)

Ø PKU

Ø Sickle cell anemia

Ø Sphingolipidoses (cept Fabry's)

Ø Thalassemia

---

X-Linked Recessive Diseases

◊ Bruton's agammaglobulinemia

◊ Wiskott-Aldrich syndrome

◊ Fabry's

◊ G6PD deficiency

◊ Ocular albinism

◊ Lesch-Nyhan syndrome

◊ Duchenn's (Becker's) Muscular dystrophy

◊ Hunter's Syndrome

◊ Hemophilia A, B

#biochem #genetics

Drugs that act on MT

Antihelminthic (Mebendazole)

Antifungal (Griseofulvin)

Anti-cancer (Vinblastine/Vincristine)

Anti-breast (Paclitaxel)

Anti-gout (Colchicine)

#biochem #MT #drugs

DNA Repair

Nucleotide Excision Repair

: Specific endonuclease cleaves nucleotides

◊ Xeroderma pigmentosum (thymine dimers can't be repaired due to UV exposure)

Base Excision Repair

: Specific glycosylases recognize damaged bases -> AP endonuclease cuts DNA at apurinic/apyrimidinic sites and replaced

◊ Repair of spontaneous/toxic deamination

Mismatch Repair

: Unmethylated, new DNA string recognized -> mismatched NT's are removed and replaced

◊ HNPCC

Nonhomologous End Joining

◊ Ataxia Telangiectasia

#Biochem #DNA repair

MT Diseases

1. Chédiak-Higashi Syndrome

: Defect in MT polymerization -> ↓ phagosome & lysosome fusion

-> Problems in immunodeficiency & pigmentation

◊ Recurrent pyogenic infections (abnormal NK cell f'n)

◊ Partial albinism (melanosomes affected)

◊ Peripheral neuropathy (mechanism unknown)

2. Kartagener's syndrome

: Dynein arm defect -> immotile cilia

◊ Infertility

◊ Bronchiectasis (Defect in mucus clearance)

◊ Recurrent sinusitis (bacteria & particles not cleared)

◊ Situs inversus (visceral rotation abnormal due to impaired ciliary beating)

#biochem #microtubules

Apolipoproteins

Apolipoprotein Function:

A-1

Activate LCAT

B-48

CM secretion

B-100

Bind to LDLR, mediate VLDL secretion

C-II

Cofactor for lipoprotein lipase

(Excess) Cholesterol remnant uptake

Apo B for Bad (LDL) cholesterol

-------------

CM - B-48, C-II, E, A-IV

VLDL - B-100, C-II, E

IDL - B-100, E

LDL - B-100

HDL - A-I, E

--------------

Familial dyslipidemias

Type I (Hyperchylomicronemia)

CM increased due to LDL deficiency/altered apo-C-II

Elevated TG, Cholesterol in blood

Pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthoma

Type IIa (Familial hypercholesterolemia)

LDL increased due to lack of or deficient LDLR

Elevated TG in blood

Accelerating atherosclerosis, tendon (Achilles) xanthoma, corneal arcus

Type IV (Hypertriglyceridemia)

VLDL increased due to overproduction in the liver

Elevated cholesterol in blood

Pancreatitis

---

Abetalipoproteinemia:

Deficiency in apoB-100, 48 -> Cannot synthesize lipoproteins -> Problems absorbing fat & fat-soluble vitamins

Sx: Failure to thrive, steatorhea, night blindness (Vit A), ataxia (Vit E), acanthocytosis (spiny RBCs)

#biochem #apolipoproteins #familial dyslipidemias #lipoproteins

Neural development

Notochord

: induces ectoderm to form neuroectoderm and neural plate

-> Neural plate gives rise to neural crest and neural tube

-> Notochord becomes nucleus pulposus of intervertebral disk in adults

Ectodermal derivatives:

Surface Ectoderm

Adenohypophysis

Lens, epithelial lining (oral cavity), sensory organs (ear), olfactory epithelium

Epidermis, anal canal (below pectinate line)

Sweat, salivary, mammary glands

Neuroectoderm

Neurohypophysis, pineal gland

CNS neurons, oligodendrocytes, astrocytes, ependymal cells

Spinal cord

Retina

Neural crest

PNS: ANS, DRG, CN, Schwann cells

Eye: Anterior chamber, cornea, pigment of the iris

Ear: bones of the inner ear bones

Mouth: Odontoblasts

Digestive: celiac ganglion, enteric nervous system

Chromaffin cells (adrenal medulla)

Skin: Melanocytes

Thyroid: Parathyroid (C) cells

Pia and arachnoid

Bones of the skull

Heart: Aorticopulmonary septum

#embryo

Cystinuria

: Hereditary defect that leads to cystine kidney stones (AR, 1:7000)

-> Mutations in genes -> defect in transporter proteins made in the kidneys

-> impaired renal tubular absorption of ornithine, lysine, arginine at PCT

-> impaired reabsorption of cystine -> excess cystine in urine

-> cystine kidney stones (Staghorn calculi) in kidneys, ureters, bladder.

Hematuria

Flank pain

24 hr urine collection

Urinalysis

Abdominal CT

Intravenous Pyelogram (IVP)

Acute hydration

Acetazolamide - carbonic anhydrase inhibitor (alkalinize urine)

Penicillamine - chelation therapy

Surgery to remove stones

#cystinuria #staghorn

Rhabdomyolysis

: Rapid breakdown of skeletal muscle tissue (ie. Muscle damage)

-> release myoglobin to the blood stream

Filtered through the kidney

Dissociated in acidic urine -> Ferrihemate portion is toxic

-> Damages renal tubular epithelium

-> Acute renal failure

* SE of HMG-CoA reductase inhibitors (ie. Statins)

#rhabdomyolysis #renal failure

Tabes dorsalis (Syphilis myelopathy)

: Degeneration of DC and dorsal roots due to 3° syphilis

-> Locomotor ataxia, impaired proprioception

Shooting (lightning) pain

Positive Romberg

Absence of DTR

Sensory ataxia at night

Argyll Robertson pupils

Charcot joints

#tabes dorsalis #syphilis

Cushing's Syndrome

,: Increase in CORTISOL

Causes:

Cushing's disease: pituitary adenoma -> Incr. ACTH

Ectopic ACTH -> SCLC, bronchial carcinoids, etc. -> Incr. ACTH

Adrenal -> adenoma, carcinoma, hyperplasia -> Decr. ACTH

Findings:

HTN, wt. gain, truncal obesity, moon facies, buffalo hump

Hyperglycemia (d.t. insulin resistance)

Skin - thinning, striae

Osteoporosis, amenorrhea, immune suppression

Dexamethasone test on Cortisol

#cushing's #cortisol #ACTH

Neoplasms

MC malignancy in children

MC solid tumor location in children

2 MC brain tumors in children

MC supratentorial brain tumor in children

MC malignant bone tumor in children (aka 2nd MC 1° malignant tumor of bone following malignant myeloma)

MC tumor of adrenal medulla in children

MC renal tumor in children

MC 1° cardiac tumor in kids

#neoplasms

Hyperaldosteronism

Licorice -> Causes hyperaldosteronism if consumed in excess!

1° Hyperaldosteronism (hyporeninemic)

Adrenal hyperplasia (idiopathic) or Conn's syndrome

HTN, hypokalemia, alkalosis

2° Hyperaldosteronism

Reduced blood flow to JGA -> Increased renin secretion

Increased plasma renin

#Endo #Hyperaldosteronism #licorice

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