Thursday, January 28, 2010

- Kallmann syndrome.

 Kallmann syndrome


- Def :- It is a rare X-linked recessive genetic disease which characterized by delayed or absent puberty and an impaired sense of smell, also referred as olfactogenital dysplasia.

- Kallmann syndrome is a form of secondary hypogonadism, reflecting that the primary cause of the defect in sex-hormone production lies within the pituitary and hypothalamus rather than a physical defect of the testes or ovaries.

- Kallmann syndrome was described in 1944 by Franz Josef Kallmann, a German-American geneticist.(1)(2)

- Incidence:-
It affects primarily males at an incidence of 1 out of 10,000 in a study of French conscripts.(3)
The male-to-female ratio ranges from 4:1 to 5:1.

- Cause:-
Mutations in the KAL1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome.
These genes play a role in the development of certain areas of the brain before birth. Although some of their specific functions are unclear, these genes appear to be involved in the formation and movement (migration) of a group of nerve cells that are specialized to process smells (olfactory neurons).(4)

- Synonyms:-
  • de Morsier’s syndrome II.
  • Morsier-Gauthier syndrome.
  • Kallmann-de Morsier syndrome.
  • Maestre-Kallmann-de Morsier syndrome.
  • Maestre de San Juan-Kallmann syndrome.
  • Maestre de San Juan-Kallmann-de Morsier syndrome.
  • anosmic hypogonadism.
  • anosmic idiopathic hypogonadotropic hypogonadism.
  • hypogonadotropic hypogonadism and anosmia.
  • hypogonadotropic hypogonadism-anosmia syndrome.

Wednesday, January 27, 2010

- Sertoli-cell-only syndrome (germinal cell aplasia).

Sertoli-cell-only syndrome (SCO)
-Def:- It is a condition in which only Sertoli cells line the seminiferous tubules of the testes and characterized by male sterility (due to azoospermia) without sexual abnormality.
- Synonyms:-
  • Del Castillo syndrome.
  • Germ cell aplasia.
-The etiology (1):-
  • Most causes of SCO syndrome are idiopathic. A congenital absence of germ cells due to failure of migration of gonocytes is theoretically possible.
  • Massive deletions in the azoospermia factor (AZF) region of the Y chromosome. found.
  • Exposure to chemicals and toxins may cause SCO; however, direct cause-and-effect relationships in humans have been difficult to document.
  • Klinefelter syndrome, 47 XXY, results in a characteristic biopsy appearance of SCO and Leydig cell hyperplasia.

Tuesday, January 26, 2010

- Anthony Atala on growing new organs.

Anthony Atala's state-of-the-art lab grows human organs -- from muscles to blood vessels to bladders, and more. He shows footage of his bio-engineers working with some of its sci-fi gizmos, including an oven-like bioreactor (preheat to 98.6 F) and a machine that "prints" human tissue.




What amazing!!

- Parasites affecting Spleen.


Parasites affecting Spleen

"Spleen"

Schistosoma species.
PLasmodia species.
LEishmania donovani.
EchiNococcus granulosus .

Dr Ibrahim

Monday, January 25, 2010

- Nematodes transmitted through contaminated soil.

 Nematodes transmitted through contaminated soil
(Nematodal geoparasites)

(Alessandro Nesta the famous Italian footballer )
(source of pic here )


you will surprise what the relation between Alessandro Nesta and Nematodes.!? really i will need "Nesta" part to help us to remember nematodes transmitted through contaminated soil..

"Nesta" 
Necator americanus (filariform larvae).
Enterobius vermicularis (eggs).
Strongyloides  stercoralis (filariform larvae).
Toxocara canis and cati (eggs),Trichocephalus trichiurus.
Ascaris lumbricoides,Ancylostoma duodenale.

 


Dr Ibrahim