sᴘᴏᴛ ᴅɪᴀɢɴᴏsɪs

2021-12-30 01:31:36 Open / Comment

2021-12-30 01:27:49 70 yrs old male experienced an ischemic strokes 3 weeks ago, came today with half of his face shaved when asked to raise both arms he raises the right arm, Hx significant for Hypertension, diabetes and atrial fibrillation, when asked to draw a clock he ignore the left site. Open / Comment

2021-12-29 15:06:03 #Punnett_square:
Mendalian inheritance Autosomal recessive

#NB:
Autosomal : affect both male and females.
Sex linked: gender biased e.g.
1- Hemophilia.
2-Glucose-6- dehydrogenase deficiency ( G6PD).
3-Duchenne muscular dystrophy.

Different alleles(Rr) = heterozygous.
Same alleles ( rr) = homozygous. Open / Comment

2021-12-29 12:59:43 #Genetic_Flashback:

Genetic disorders:
1- Mendalian disorders:
-Autosomal recessive:
-Autosomal dominant
-X-linked recessive.
-X-linked dominant.
2-Chromosomal disorders:
- Neumerical ( e.g. trisomy21)
- Structural.
3-Multigene:DM-2

#Autosomal_recessive :
Carrier X carrier (both parents must be carriers to the mutant gene.
25% of offspring are affected (rr).
25% are not affected (RR).
50% are carriers (Rr)
Mutant gene (r).

#Clinical_Example:
Neurological
1-Fredrich Ataxia.

Non-Neurological:
Hematology:
1- Sickle cell Anemia
2- Thalassemia.
3-Chediak higashi syndrome
4-Shwachman-Diamond syndrome (low WBC, skeletal deformity, Malabsorption)
5- Fanconi Anemia (pancytopenia + skeletal deformities).

Other:
1-Cystic fibrosis.
2- Hereditary hemochromatosis.

#NB:
A gene has two alleles.
Alleles are either dominant or recessive.
Each parent contribute with an allele.
Dominant trait (R).
Recessive trait (r).
Recessive trait only appear when both alleles are (rr).

#My_notes Open / Comment

2021-12-28 08:42:33 #Freidrich_ataxia:
Autosomal recessive neurodegenerative disease, the most common inhirited Ataxia.

#Pathophysiology:
trinucleotide (#GAA) expansion of the frataxin gene.

#Manifestation:
Neurological:
1- Loss of propreception and vibration sense. (degeneration of posterior cloumn tracts & dorsal root ganglion).

2- Spastic muscular weakness (degeneration of lateral corticospinal tract).

3- Degeneration of the spinocerebellar tracts ( #Ataxia)
4- MRI: spinal cord atrophy.

Cardiac:
Hypertrophic cardiomyopathy (HCM).

Skeletal:
1- Pes cavus ( high arched foot).
2- Kyphosciliosis.

#Diagnosis:
Genetic testing.

#Source:
UWORLD Neurology (image)
https://www.genomicseducation.hee.nhs.uk/ Open / Comment

2021-12-28 01:00:43 Open / Comment

2021-12-28 00:24:30 https://t.me/spotdiagnosis/42 Open / Comment

2021-12-28 00:19:43 https://t.me/spotdiagnosis/27 Open / Comment

2021-12-28 00:12:35 https://t.me/spotdiagnosis/27 Open / Comment

2021-12-27 00:25:59 Open / Comment