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July 2014

When my friends ask me if I’m going to get out of bed on my day off

#gif   #gif warning   #will ferrell   #day off   #lazy   #personal   #personal post   #nurse   #rn   
July 2014
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  • Alport’s Sd (most cases): "hereditary nephritis", type IV collagen deficit, mutation of COL4A5 ("colaas" - alpha-5 chain, type 4 collagen), hearing loss, ocular abnormalities (lens & cornea), hematuria since childhood (gross, micro)
  • Charcot Marie Tooth: loss of motor & sensory innervation, distal weakness & sensory loss, wasting in the legs, decreased deep tendon reflexes, tremor, foot deformity with a high arch is common (pes cavus), legs look like inverted champagne bottles. Most accurate test: electromyography. No tx.
  • Focal Dermal Hypoplasia: skin abnormalities and a wide variety of defects in eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems.
  • Fragile X Syndrome: CGG trinucleotid repeat, FMR 1 gene mutation, mental retardation, large ears and jaw, post-pubertal macro-orchidism (males), attention deficit disorder (females)
  • Hypophosphatemic rickets: infants may show growth retardation, widened joint spaces and flaring at the knees at age 1 (> boys), bowing of the weight-bearing long bones, young children-dentition absent or delayed, older children-multiple dental abscesses.
  • Incontinentia pigmenti: skin abnormalities (blister--> warts--> hyperpigmentation--> hypopigmentation), alopecia, hypodontia, cerebral atrophy, slow motor development, mental retardation, seizures, skeletal & structural anomalies. Letal >males.
  • Orofaciodigital Sd: OFD1 gene mutation, malformations of face, oral cavity, digits with polycystic kidney disease and variable involvement of the central nervous system.
  • RETT’s Sd: sporadic mutation of MECP2 gene, onset 2yo, acquired microcephaly, stopped development, motor & speech regression, autism-like behavior, self-mutilating behavior, inconsolable crying/screaming fits, emotional inversion, hypotonia, dystonia, chorea, bruxism, scholiosis, long QT
#genetics   #biology   #reblog   #nurse   #nursing   #nursing school   #med   #medical   #med school   #pre med   
July 2014
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  • Alport’s Sd: "hereditary nephritis", type IV collagen deficiency, alternating thickening & thinning of GBM, COL4A5 mutation, hearing loss, ocular abnormalities (lens & cornea), hematuria (gross or micro) since childhood.
  • Bruton’s Agammaglobulinemia: btk gene defect, no mature B cells or plasma cells, low lymphoid tissue, hepatitis, enterovirus infxs, first 6 months protected by maternal ab (no symptoms)
  • Becker’s Muscular Dystrophy: altered dystrophin gene, later onset than Duchene's, slow progression, relatively normal life span, less severe, rare cardiac involvement.
  • Chronic Granulomatose Disease (CGD): NAPDH oxidase deficiency, recurrent catalase (+) infxs, nitroblue tetrazolium test negative (yellow)
  • Congenital Aqueductus Stenosis: MCC of congenital obstructive hydrocephalus.
  • Color blindness (red-green): can't distinguish shades of red and green (usually blue-green)
  • Duchene’s muscular Dystrophy: dystrophin gene mutation (Xp21), absent dystrophyn protein, MC & severe of muscular dystrophies, normal until 5yo, short life span (<30yo), progressive muscle weakness, calf pseudohypertrophy, <3 failure, arrythmias, respiratory insufficiency and infxs (decreased mucociliary clearence). Pneumonias CC of death.
  • Fabry’s Disease: alpha Galactosidase A, Ceramide trihexose accumulation, angiokeratomas, renal failure, peripheral neuropathy.
  • Glucose 6-P Dehydrogenase (G6PD) Deficiency: chronic hemolytic anemia, MCC of enzymatic deficiency HA, Heinz bodies, bite cells. Triggers are infections, drugs (antimalarial), fava beans
  • Hemophilia A & B: factor VIII & IX deficiency respectively. PTT prolongation.
  • Hunter Disease: iduronate sulfatase deficiency, heparan sulfate accumulation, no corneal clouding, aggressive behaviour.
  • Inherited Nephrogenic Diabetes Insipidus: V2 receptors in collecting duct don't respond to ADH.
  • Lesch-Nyhan Sd: HGPRT1 deficiency, spastic cerebral palsy, self-mutilation, hyperuricemia, oral crystals in diapers, early death.
  • Menkes Disease: ATP7A gene mutation (copper efflux protein), Cu+ is lysil oxidase cofactor, Cu+ accumulates in intestine & kidneys; deficient in other tissues = deficient collagen cross linking; steely 'kinky' hair, MR, arterial tortuosity, hypotonia.
  • Ornithine Transcarbamoylase Deficiency: urea cycle, orotic aciduria + hyperammonemia (no megaloblastic anemia), orotic acid accumulation, increased glutamine . Cerebral edema, lethargy, vomiting, hyperventilation, convulsions, coma, death.
  • SCID: IL-receptor, Gamma chain deficiency
  • Wiskott Aldrich Sd: combined partial B & T immunodeficiency, IgM deficiency, thrombocytopenia, eczema.
#genetics   #biology   #reblog   #nurse   #nursing   #nursing school   #med   #medical   #med school   #pre med   
July 2014
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  • Abetalipoproteinemia: decrease ApoB-48, Apo B-100; pigmentary degeneration of retina, acanthocytes, steatorrhea, cerebellar ataxia.
  • Acute Fatty Liver of Pregnancy: microvesicular steatosis in the liver, mitochondrial dysfunction in the oxidation of fatty acids leading to an accumulation in hepatocytes
  • Alkaptonuria: homogentisate oxidase deficiency, increase homogenistic acid, ochronosis, dark blue urine.
  • AcylCoA Dehydrogenase deficiency (MCAD): fasting hypoglycemia, no ketone bodies, dicarboxilic acidemia.
  • Bernard Soulier Sd: gp1b deficiency, prolonged bleeding time
  • Bloom Sd: chromosome 15, Ashkenazi Jews, BLM gene.
  • Carpenter Sd: craniosynostosis, acrocephaly, craniofacial asymmetry, increased ICP, cutaneous syndactyly, polydactily, mild-profound MR.
  • Chediak Higashi Sd: Lyst gene mutation, microtubule polymerization defect, no phagolysosome formation, albinism.
  • Chondrodystrophy: normal-sized trunk and abnormally short limbs and extremities (dwarfism)
  • Congenital Adrenal Hyperplasia: 17alpha or 21beta or 11 beta hydroxylase deficiency; enlargemente od adrenal glands due to increase ACTH
  • Congenital Hepatic Fibrosis: hepatic (periporta) fibrosis, irregularly shaped proliferating bile duct, portal hypertension, renal cystic disease.
  • Cystic Fibrosis: CFTR gene, Phe508, defective Chloride channel, chromosome 7.
  • Dubin-Johnson Sd: direct hyperBbnemia, cMOAT deficiency, black liver
  • Endocardial Fibroelastosis: restrictive/infiltrative cardiomyopathy, thick fibroelastic tissue in endocardium of young children, <2yo
  • Familial Mediterranean Fever: chromosome 16, recurrent autoinflammatory disease, characterized by F°, PMN disfx, sudden attacks pain/inflammation (7 types of attacks (abdominal, joints, chest, scrotal, myalgias, erysipeloid, fever). Complication: AA-amyloidosis
  • Fanconi Anemia: genetic loss of DNA crosslink repair, often progresses to AML, short stature, ↑incidence of tumors/leukemia, aplastic anemia
  • Friedreich’s Ataxia: GAA triplet repeat, chromosome 9, neuronal degeneration, progressive gait & limb ataxia, arreflexia, hypertrophic cardiomyopathy, axonal sensory neuropathy, kyphoscoliosis, dysarthria, hand clumsiness, loss of sense of position, impaired vibratory sensation.
  • Gaucher’s disease: glucocerebrosidase deficiency, glucocerebroside accumulation, femur necrosis, crumpled paper inclusions in macrophages.
  • Ganzman’s thromboasthenia: gpIIbIIIa deficiency, deficient platelet aggregation.
  • Hartnup Disease: tryptophan deficiency, leads to niacin deficiency, pellagra-like dermatosis
  • Hemochromatosis: HFE gene, C282Y MC mutation, chromosome 6, unrestricted reabsorption of Fe+ in SI, iron deposits in organs, bronze diabetes, DM1, malabsorption, cardiomyopathy, joint degeneration, increased iron, ferritin, TIBC. Complications: liver cirrhosis, hepatocelullar carcinoma
  • Homocystinuria: due to B6 deficiency (defective Cystathionine synthase) or due to B9,B12 deficiency (defective Homocysteine Methyltrasnferase), dislocated lenses (in & down), DVT, stroke, atherosclerosis, MR.
  • Krabbe's Disease: Galactocerebrosidase deficiency, galactocerebroside accumulation, gobloid cells, optic atrophy, peripheral neuropathy.
  • Leukocyte Adhesion Defect (LAD): CD-18+ deficiency, omphalitis in newborns, chronic recurrent bacterial infxs, increase WBC count, no abscess or pus formation.
  • Metachromic Leukodystrophy: Aryl-sulfatase A deficiency, sulfatides accumulation, Demyelination (central & peripheral), Ataxia, Demantia (DAD)
  • Niemann-Pick Disease: sphingomyelinase deficiency, sphingomyelin accumulation, HSM, cherry-red macula, foam cells.
  • Phenylketonuria (PKU): phenylalanine hydroxylase deficiency, Phe accumulation, MR, microcephaly, diet low in Phe!!! also in pregnancy, avoid aspartame, musty odor.
  • Polycystic Kidney Disease (children): ARPKD, rogressive & fatal renal failure, multiple enlarged cysts perpendicualr to renal capsule, association with liver cysts. Bilateral palpable mass.
  • Rotor Sd: direct hyperBbnemia, cMOAT deficiency, no black liver
  • SCID: ADA def. & rag-1, rag-2 def, bubble-boy
  • Shwaman Diamond Sd: exocrine pancreatic insufficiency (2°MCC in children after CF), bone marrow dysfunction, skeletal abnormalities, short stature.
  • Situs inversus: assoc w/ Kartagener sd
  • Sicke Cell Disease and Trait: Hb S, beta globin chain, chromosome 11, position 6, nucleotide codon change (glutamic acid --> valine), vaso-occlusive crisis (pain), autosplenectomy, acute chest pain sd, priapism, hand-foot sd, leg ulcers, aplastic crisis, drepanocytes & Howell-Jolly bodies, hemolytic anemia, jaundice, bone marrow hyperplasia
  • Tay-Sachs Disease: Hexoaminidase A deficiency, GM2 accumulation, cherry-red macula, onion skin lysosomes.
  • Thalasemia: alpha (chromosome 16, gene deletion), beta (chromosome 11, point mutation)
  • Werner Disease: adult progeria
  • Wilson’s Disease: Chromosome 13, WD gene, ATP7B gene (encondes for Copper transporting ATPase), copper accumulation in liver, brain (putamen), eyes (Descemet membrane - Kayser-Fleischer ring), decreased ceruloplasmin.
  • Xeroderma Pigmentosa: defective excision endonuclease, no repair of thymine dymers caused by UV radiation, excessive freckling, multiple skin cancers.
#genetics   #biology   #reblog   #nurse   #nursing   #nursing school   #med   #medical   #med school   #pre med   
July 2014
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Kawaii means cute in Japanese.Helps you remember Kawasaki’s disease, also known as mucocutaneous lymph node syndrome, with strawberry tongue, coronary artery aneurysms and Asian predisposition.That’s all!PS: I love Japanese culture &amp; kawaii things :3I wanna visit Japan someday, wear a kimono, eat Sushi &amp; Onigiri, color my hair pink, cosplay anime and watch cars drift ^__^I love how this post allowed me to express my love for Japan &amp; calligraphy =D-IkaN


Kawaii means cute in Japanese.
Helps you remember Kawasaki’s disease, also known as mucocutaneous lymph node syndrome, with strawberry tonguecoronary artery aneurysms and Asian predisposition.

That’s all!

PS: I love Japanese culture & kawaii things :3
I wanna visit Japan someday, wear a kimono, eat Sushi & Onigiri, color my hair pink, cosplay anime and watch cars drift ^__^
I love how this post allowed me to express my love for Japan & calligraphy =D


#reblog   #nurse   #med   
July 2014
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The 31 Realest Tumblr Posts About Being A Women

*stands up*


*applauds forever*

Really good collection about the experience of women in a sexist society.

July 2014
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I’ve already rebloged this, but I’ll do it again. This sums up perfectly why health care professionals sometimes make morbid jokes. We simply need to stay sane.

#scrubs   #health   #health care   #nurse   #nursing   #nursing school   #med   #medical   #med school   
July 2014
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Anonymous asked

I'm pretty sure "hard science" refers to organic chemistry because holy shirt hard science


This actually made me laugh. You win anon. I herby declare this the definition that I will use from now on.


July 2014
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#a and p   #med   #medical   #usmle   #nclex   #nurse   #nursing   #nursing school   #bio   #biology   #physiology   
July 2014
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Food in Med school


Throwback Monday


During Cardio: “Fatty food will kill you”


Endocrine: “Sugary food will kill you”


Microbiology: “All the fruits, veggies, seafoods, meats, etc, etc…will kill you!”


Pathology: “It’s called caseous necrosis because it looks like cheese!”


This is one of the times when being vegan becomes very important!

#funny   #reblog   #vegan   #gif   #pathology   #microbiology