Friday, July 12, 2013
List of diseases related to Chromosome’s number
CHROMOSOMES AND ASSOCIATED DISORDERS
Chromosome 1: Rh system / neuroblastoma
Chromosome 2: Cystinuria/hypobetalipoproteinemia
Chromosome 3: RCC/ALKAPTONURIA
Chromosome 4: Huntingtons chorea/achondroplasia/parkinsons disease
Chromosome 5: FAP/colorectal carcinoma/cri-du-chat syndrome
Chromosome 6: HLA system(short arm) /MHA antigen/DM
Chromosome 7: Cystic fibrosis
Chromosome 8: Osteoporosis
Chromosome 9: ABO blood group / friedreich’s ataxia
Chromosome 10: Apert syndrome Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 1 Charcot-Marie-Tooth disease, type 4 Cockayne syndrome congenital erythropoietic porphyria Cowden syndrome Crouzon syndrome Hirschprung disease multiple endocrine neoplasia type 2 Pfeiffer syndrome porphyri Usher syndrome Usher syndrome type I Wolman syndrome
Chromosome 11: Sickle cell anaemia/beta thallasemia/wilms tumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH gene
Chromosome 12: PKU/vWF/CA testes
Chromosome 13: Retinoblastoma/osteosarcoma/wilsons ds
Chromosome 14: Familial HOCM/ alpha 1 antitripsin deficiency
Chromosome 15: Marfan’s syndrome/albinism/pradder willi syndrome/angelman syndrome
Chromosome 16: Alpha thallasemia/adult PKD
chromosome 17: Carninoma breast(BRCA1)/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 gene
Chromosome 18: Erythropoietic protoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)
Chromosome 19: Myotonia dystrophica/gene for insulin receptor
Chromosome 20: MODY type 1 DM/prions disease
Chromosome 21: Homocystinuria/amyloidosis…folic acid transport..
Chromosome 22: Meningioma/acoustic neuroma/NF -2/Di-George syndrome
Chromosome Xq: Gene for androgen insensitivity syndrome/ fragile X syndrome/ Testicular feminisation/ X-SCID/ X linked agaamaglobulinemia/ Fabry ds/ Lesch- Nyhan/ Hemophilia B/ Hemophilia A/ Hunter syndrome/ G6PD deficiency
Chromosome Xp – Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome
Multiple Myeloma ..points of interest.
Multiple myeloma points of interest :
• Bone punched out lesion...> due to osteoclasts activating factor, and
osteoblasts differentiation inhibitor.
• When light chains get converted into amyloid, they cause nephrotic
syndrome.
• Proteinaceous tubular casts in urine (light chains), tubular basement
membrane calcinosis, and acute renal failure.
• Normocytic anemia, rouleaux formation, quantitative platelets defect.
• Most common cause of death is infection (St.pneumonia, and H.influenza)
External and internal hemorrhoids
The image above shows the rectum and anus. The external sphincter is at the bottom and the internal shpincter is shown by the pectinate line at the top.
In this figure
A represents an internal hemorrhoid,
B represents an external prolapsed hemorrhoid,
C is a mixed hemorrhoid (both internal and external),
D is a thrombosed hemorrhoid and
E is an external hemorrhoid.
Thursday, July 11, 2013
Culture Media
The various agars to culture microorganisms are photographed and displayed below:
CLED Agar in petri dish.
McConkie’s Agar in petri dish
Multiple Endocrinal Neoplasia (MEN)- a simplicity diagram
Multiple endocrinal neoplasias are shown with such simplicity in this diagram that i found at Wikipedia.
The diagram illustrates MEN 1 (also known as Werner’s) , MEN 2A (Sipple’s) and MEN 2B.
To remember… have the diagram in mind and remember PPP, PMP , MMP. You’ ll never forget .
MEN 1 is P,P,P (3P)
MEN 2A is PMP
MEN 2B is MMP
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