Tuesday, November 10, 2009

- Pedigree.

-A pedigree:- is a diagram of a family history and illustrates relationships among family members; it shows which family members are affected with specific medical conditions.

-Information for a three-generation pedigree should be obtained from a family being evaluated for a genetic disorder.

- The patient through whom the family is ascertained is called the proband.


(Symbols commonly used in pedigree chart)


-Consanguinty:-

There are Five degrees of Consanguinty:-

*first-degree:-
-First-degree relatives share half of their genetic material with the proband (brothers, sisters, children,parents).

*second degree:-
-Second degre relatives share one fourth of their genetic material (grandparents,aunts,uncles).

*Third degree:-
-Third degree relatives share one eighth of their genetic material with the proband(1st cousin).

*Fourth degree:-
-Fourth degree relatives share one sixteenth of their genetic material with the proband(2nd cousin).

*Fifth degree:-
-Fifth degree relatives are once remote form the proband.


References:-
(1)Richard E Behrman,Nelson Textbook of Pediatrics,17th ed,ch69,(http://www.elsevier.com).
(2)Bennett RL, Steinhaus KA, Uhrich SB, et al: Recommendations for standardized pedigree nomenclature. J Genet Counsel 1995;4:267–79.)

Sunday, November 8, 2009

- Cushing's triad.

Cushing's triad


is a late sign of increase intra-cranial tension

and composed of:-


  1. Hypertension.
  2. Respiratory depression.
  3. Bradycardia.

Return to other triads here.

Friday, October 23, 2009

- Medical syndromes.

Medical syndrome is defined as :-
A group of symptoms and signs that collectively indicate or characterize a disease, psychological disorder, or other abnormal condition.
There are a lot of medical syndromes and we try to list some of them:-
1-Down syndrome (click here).
2-Plummer-Vinson syndrome (click here).
3-Ramsay Hunt syndrome (click here).
4-Wolf-Hirschhorn Syndrome (click here).
5-Cri-du-chat syndrome (click here).
6-YY syndrome (click here).
7-Klinefelter's syndrome (click here).
8-Turner's syndrome (click here).
9- Fanconi syndrome (click here).
10-Abderhalden-Kaufmann-Lignac syndrome (click here) .
11-Light Wood-Albright syndrome(Lightwood syndrome)(click here).
12-Oculo-cerebro-renal Syndrome (click here).
13-Metabolic syndrome (click here).
14-Pickwickian syndrome (click here).
15- Kallmann syndrome (click here).
16-Sertoli-cell-only syndrome (click here).
17-Lambert-Eaton syndrome (click here).
18-Guillain Barré syndrome (click here).
19-Horner's syndrome (click here).
20-Brown-Séquard syndrome. (click here).
21-Carpal tunnel syndrome. (click here).
22-Sjögren's syndrome (click here).
23-Felty's syndrome (click here).
24-Caplan's syndrome (click here).
25-Congenital Rubella Syndrome  (click here).
26-Caroli's syndrome.  (click here).
27-Malabsorption syndrome.  (click here).
28-Duhin-Johnson syndrome.  (click here).
29-Exploding head syndrome. (click here). 
If you have other syndromes plz tell us...
Dr Ibrahim,,

Tuesday, October 13, 2009

-Genetics in Pediatrics.

We study genetics in Pediatrics mainly for the follwoing reasons:-
  • Major component and/or reason for pediatric admissions.
  • The main cause of death in first year of life.
  • Nearly 71% of children in hospital have a genetic disease or susceptibility.
  • Nearly 3% of newborns with significant birth defect.
  • Families have concerns about recurrence, cause and available therapie.

Saturday, August 22, 2009

- Ramadan Mubarak.



Ramadan Mubarak Everyone....

May Allah accept from us and from you.....

Dr Ibrahim..