What the Hell is?!

• 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

• 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

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

• 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