- pathology mnemonics (1)

Thrombus: possible fates

DOPE:-

• Dissolution
• Organization and repair
• Propagation
• Embolization

Atherosclerosis risk factors

SAD BET (الرهان الحزين)

Sex: male
Age: middle-aged, elderly
Diabetes mellitus

BP high: hypertension
Elevated cholesterol(bad cholesterol LDL)
Tobacco (smoking)

Dr Ibrahim

-Turner Syndrome.

Turner Syndrome

*Def :- It is a condition in which a female has only one X sex chromosome instead of XX in her cells (i.e XO or monosomy ) (1).

*Synonyms:-

• Ullrich-Turner syndrome.
• Gonadal dysgenesis (2).
  

*Pathophysiology:-
- Most commonly due to non-disjunction of chromosome X during formation of ova so ovum with one X chromosome when fertilized an by sperm carrying X chromosome give baby with XO.
- It occurs also in normal ovum when fertilized with sperm neither X nor Y .

* Although in females,only one X chromosome is active , the presence of two X chromosomes is essential for development of the ovaries (1).

*Karyotype (1) :- 45,XO

*Buccal smear:- -ve Barr's body.

*Hormonal assay:- decrease sex hormones.

* Clinical picture (1):-

• Short stature ( most common presentation).
  
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely-spaced nipples
• Low hairline
• Low-set ears
• infertility ( due to ovarian dysgenesis)
• Amenorrhea, or the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV (of hand)
• Small fingernails
• Characteristic facial features (e.g hypertelorism,epicanthic fold,narrow maxilla)
  
• Webbed neck from cystic hygroma in infancy.
• Congenital heart diseases in 35% of cases mainly Coarctation of the aorta.
• Poor breast development.
• Congenital renal diseases (e.g Horseshoe kidney).
• Cubitus valgus ( wide carrying angle).
  
• Mental development is subnormal "but intelligence is normal".
  

*Prognosis:-

While most of the physical findings in Turner syndrome are harmless, there can be significant medical problems associated with the syndrome.

*Treatment:-

As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. For example:-(3)

• Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome .(3)
• Estrogen replacement therapy at 14-15 years has been used since the condition was described in 1938 to promote development of secondary sexual characteristics.Estrogens are crucial for maintaining good bone integrity and tissue health (3).
  

Return to list of medical syndromes here

*References:-

(1) Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g76.

(2)James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
(3)Turner Syndrome Society of the United States. "FAQ 6. What can be done? Retrieved 2007-05-11.

- Cells Of Immune response

Cells Of Immune response are classified Into five classes according to
A- Presence of specific structures on their surface.
B- Their Functions.
 
The cells Of Immune response are:-

1- B lymphocytes.
2- T lymphocytes.
3- Accessory cells :

• Macrophages
• Dendritic cells
• Polymorphnuclear cells

4- Killer cells :

• Natural killer cells ( Nk cells )
• Killer cells ( K cells )

5- Mast cells

Dr Ibrahim

- Klinefelter's syndrome.

Klinefelter's syndrome

*Def:- It is a condition in which males have an extra X sex chromosome (i.e XXY) in his cells(1).

*Incidence:-

• The most common sex chromosome disorder (2).
• The second most common condition caused by the presence of extra chromosomes.
• Roughly it occur by 0.1% in males.
  

* Klinefelter syndrome is named after Dr. Henry Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, Massachusetts, who first described it in 1942 (3).

*Pathophysiology (1):-

• Most commonly Due to non-disjunction of chromosome X at one of the meiotic divisions so an ovum with XX chromosome when fertilized by a sperm carrying Y chromosome lead to formation of baby with XXY .
• less commonly,the condition arise when a normal ovum is fertilized by XY sperm .
• The condition may appear with XXXY or XXXXY due to non-disjunction at both meiotic divisions this will lead to more mental retardation.

*Karyotype (1) :-

• 47,XXY
• 48,XXXY
• 49,XXXXY

*Buccal smear:- +ve Barr's body.

*Hormonal assay:- decrease androgens.

*Clinical picture:-

• Infertility.
• Gynecomastia.
• Subnormal intelligence or Mental retardation.
• microorchidism (i.e. small testicles)(4).
• Absence of body hair.
• Long stature (due to absence of androgens which help closure of epiphysis).
  

Return to list of medical syndromes here

*References:-
(1) Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g75.
(2)James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. p 549. ISBN 0721629210.
(3)Klinefelter, HF Jr; Reifenstein, EC Jr & Albright (1942), "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone", J Clin Endocrinol Metab 2: 615–624. Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development", South Med J 79(45): 1089–1093 talks about the history of the development of the literature.
(4)Leask, Kathryn (October 2005). "Klinefelter syndrome" (HTML). National Library for Health, Specialist Libraries, Clinical Genetics. NationalLibrary for Health. . Retrieved 2007-04-07.

- YY syndrome.

YY syndrome

*Def :- A genetic condition where males have an extra Y chromosome (i.e XYY) in each of their cells .

* This is not usually an inherited condition but a defect that occurs during cell division.

* Often the condition is asymptomatic.

* Incidence :- rare disease.

*Synonyms:-

• Diplo-Y Syndrome.
• Polysomy Y.
• XYY Chromosome Pattern.

*Pathophysiology:-
Due to non-disjunction of chromosome Y during 2nd meiotic division so YY sperm when fertilizes an ovum carrying X chromosome give baby with XYY.

*Karyotype :-
47,XYY

* Clinical picture:-

• Tall stature
• Subnormal intelligence.
• Developmental delays.
• May show aggressive tendency or antisocial behavior.

Return to list of medical syndromes here

*References:-
- Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g75,76.