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.

The keys to the life of the heart lie in reflecting upon the Qur‘an, being humble before Allah in secret, and leaving sins.

Ibn Qayyim al Jawziyyah (rahimahullah)

(Source: poeticislam)

makeupbag:

http://makeupbag.tumblr.com/
makeupbag:

http://makeupbag.tumblr.com/
fyeahwomenartists:

Lots of very talented women ceramicists on this list -
(via The Everything Guide to Urban Claymaking)

fyeahwomenartists:

Lots of very talented women ceramicists on this list -

(via The Everything Guide to Urban Claymaking)

maybelline:

Enhance your natural flush. Combine neutral and bright shades. 

maybelline:

Enhance your natural flush. Combine neutral and bright shades. 

doctorswithoutborders:

Photo 2013 © Sven Torfinn
Right now, many major drug companies’ business practices keep their own profits high while keeping medicines out of the hands of millions of people who need them. Until we change the way medicines are developed and marketed, too many people will go without needed treatment because quality medicines are not available to them.SHARE THIS IMAGE to show you stand with Doctors Without Borders in calling for access to quality, affordable medical treatment for ALL.

doctorswithoutborders:

Photo 2013 © Sven Torfinn

Right now, many major drug companies’ business practices keep their own profits high while keeping medicines out of the hands of millions of people who need them. Until we change the way medicines are developed and marketed, too many people will go without needed treatment because quality medicines are not available to them.

SHARE THIS IMAGE to show you stand with Doctors Without Borders in calling for access to quality, affordable medical treatment for ALL.

Trigeminal Nerve Inferno

chroniccurve:

image

You cried today. You cried, hard, and you know that anything more than a few tears will mean a full blown attack of trigeminal nerve pain. A disease so shitty that it robs you of the ability to shed tears, no matter how justified they might be. With the first twinge, you medicate. Whatever…

gaksdesigns:

Artist Zaria Forman

Soft Pastel on Paper

(via fyeahwomenartists)