PT Note

What the Hell is?!

2009-07-04T21:06:00.000-07:00

Wiskott-Aldrich Syndrome - an X-linked recessive disease characterized by thrombocytopenia, eczema and vulnerability to recurrent infection.
Sjogren's Syndrome - characterized by keratoconjunctivitis and xerostomia secondary to immunologically-mediated destruction of lacrimal and salivary glands; also known as Sicca Syndrome.
Erythroblastosis Fetalis - a hemolytic disease secondary to blood group incompatibility between the mother and child.
Takayasu's Arteritis - syndrome consists of weakening of pulses in UE secondary to thickening of aortic arch; a.k.a "pulseless disease".
Kawasaki Syndrome - an arteritis of large, medium, and small arteries with mucocutaneous lymph node syndrome; characterized by fever, conjunctival and oral erythema, edema of hand and feet as well as enlargement of cervical lymph nodes; self-limiting.

Sources: Cotran, Kumar, and Robbins

Also known as....; some terminologies

2009-07-04T20:56:00.000-07:00

Hydroperitoneum - ascites
Factor XII - Hageman Factor
Phlebothrombosis - Venous Thrombosis
Mucoplysaccharidosis II - Hunter Syndrome
Glycogen Storage Diseases:

Type I - Gierke Disease - hepatorenal
Type II - Pompe Disease - Generalized
Type V - McArdle Syndrome - myopathic type

Neurofibromatosis I - von Recklinghausen Disease
Neurofibromatosis II - Acoustic neurofibromatosis
Sicca Syndrome - Sjogren's Syndrome
Takayasu's Arteritis - pulseless disease
Kawasaki Syndrome - Mucocutaneous lymph node syndrome
Thromboangitis Obliterans (TAO) - Buerger's Disease

Terminologies:

Anasarca - severe and generalized edema
keratoconjunctivitis sicca - dry eyes; characteristic of Sjogren's Synrome.
Xerostomia - dry mouth; also a characteristic of Sjogren's Syndrome.
Xerophthalmia - conjunctival keratinization
Keratomalacia - corneal softening and ulceration.
Shoshin Beri Beri - form of heart failure secondary to deficiency of Thiamine.

Fat soluble vitamins vs Water soluble vitamins

2009-07-04T20:11:00.000-07:00

The following are fat soluble vitamins: (Code: ADEK)

Vitamin A - helps resist infection; part of the visual pigment; deficiency can lead to blindness and xerophthalmia. What is Xerophthalmia? - eyes unable to produce tears; dry eyes.
Vitamin D - helps in intestinal absorption of Ca+ and PO4; also hepls in bone mineralization; lack of this vitamin may lead to Rickets (pedia) and osteomalacia in adults.
Vitamin E - an antioxidant ( a free radical scavenger); lack of this vitamin may cause spinocerebellar degeneration.
Vitamin K - helps in hepatic carboxylation of procoagulants such as Factor II or prothrombin and factors VII, IX, and X; lack of such may delay coagulation which will cause bleeding.

Water soluble vitamins:

Vitamin B1 (Thiamine) - helps in conduction of nerve impulses in peripheral nerve; deficiency may lead to dry or wet beri-beri and Wernicke-Korsakoff's Syndrome (characterized by vision changes, ataxia, and impaired memory; often secondary to alcohol abuse).
Vitamin B2 (Riboflavin) - becomes coenzymes Flavin mononucleotide (FMN) and Flavin-adenine dinucleotide (FAD) - both are important in aiding other enzymes to facilitate metabolism.
Niacin - together with nicotinamide-adenine dinucleotide (NAD) and NAD phosphate (NADP) they are involved in oxidation-reduction (redox) reactions; deficiency may lead tp Pellagra (dementia, dermatitis, and diarrhea).
Vitamin B6 (Pyridoxine) - serves as coenzymes; deficiency may lead to cheilosis (dry mouth), dermatitis, and peripheral neuropathy.
Vitamin B12 (Cyanocobalamin) - important for normal folate metabolism and DNA synthesis; maintains myelinazation of SC tracts; deficiency may lead to megaloblastic pernicious anemia and degeneration of posterolateral SC tracts.
Vitamin C (Ascorbic Acid) - redox reactions and hydroxylation of collagen; deficeincy leads to scurvy.
Folate - important in DNA synthesis; deficiency may lead to megaloblastic anemia.
Pantothenic Acid - binds with coenzyme A; Deficiency: None that was recognized.
Biotin - abundant in foods; helps in carboxylation reactions; deficiency: none that was recognized.

Source: Pathologic Basis of Diseases by Cotran, Kumar, and Robbins.

Chromosomal Anomalies

2009-07-04T19:52:00.000-07:00

Marfan Syndrome - mutation in the fibrillin gene on chromosome 15 specific locus: 15q21.1
Tay-Sachs Disease - secondary to mutations that affects the alpha subunit locus on Chromosome 15.
Gaucher Disease - Autosomal Recessive; secondary to mutation at Chromosome 1 (specific locus 1q21.
Neurofibromatosis 1 or NF 1 - Chromosome 17 (specific locus 17q11.2)
Neurofibromatosis 2 or NF 2 - Chromosome 22
Down Syndrome - extra chromosome on 21st; ergo they have 47 chromosome count; a.k.a Trisomy 21
Edward Syndrome - Trisomy 18
Patau Syndrome - Trisomy 13
Cri du Chat Syndrome - deletion of the short arm of Chromosome 5 (5p-)
Klinefelter Syndrome - two or more X chromosomes plus one or more Y chromosomes; classic pattern is 47, XXY karyoptype.

Turner's Syndrome - partial or complete monosomy of X chromosome; single most important cause of primary amenorrhea; XO pattern.
Prader-Willi Syndrome - deletion of long arm of chromosome 15 (specific locus: 15q12)
Angelman Syndrome - disomy of paternal chromosome 15.

Note: Karyotyping is a study of chromosomes.
Normal karyotype: XX for female and XY for male

Source: Pathologic Basis of Diseases by Cotran, Kumar, and Robbins

Welcome!

2009-06-20T23:37:00.000-07:00

Hey guys! I'm still trying to organize my thoughts about this blog so bear with me. Nothing much here just some notes I have gathered from those sleepless nights with Guyton and Hall, Kumar and Robbins, Hoppenfield, Snell, Pansky, Tortora, Gray, De Lisa, O' Sullivan, Braddom, Kisner and Colby, Norkin, Brunnstum, Wadsworth, Haecox, Maggee and dozen others who caused me migraine and some minor form of schizophrenia.

You are all welcome to browse my notes...and add some. Let's exchange ideas and learn some more. Alrighty?