Pathologies - Random Flashcards
What would a default in Elastin cause?
Supravavlular Aortic Stenosis
What would a defect in Collagen Cause?
Ehler’s Danlos Syndrome
Osteogenesis imperfecta
What causes Marfan’s Syndrome?
Defect in Fribillin-1
What causes Macular Corneal Dystrophy?
Defect in Keratan Sulfate
What causes Dyssegmental dysplasia – Silverman – Handmaker
Defect in Perclan
What virus causes Yellow Fever?
Flavavirus
What is Li Fraumeni Syndrome a defect in?
p53 Gene
If there is a defect in the RB Protein, what kind of cancers is the individual likely to develop?
Retinoblastoma and osteosarcomas
What is the condition called where there is inadequate decent of the testes bilaterally?
Cryptochidism
What is the sarcophagus called when it undergoes metastatic changes in due acidic burns?
Barrett’s esophagus
What is it called when the pampiniform of the testes is obstructed?
Variicoceole
What is it called when there is abnormal fluid in the tunica vaginalis?
Hydrococeole
If there is an etpoic pregnancy which causes rupture of the tube, where will the blood and fluid drain?
Pouch of Douglas
What is Tay-Sachs disease?
Dysfunction of lysosomes resulting in Neuron damage / death
What is the defect in Epidermolysis Bullosa Simplex?
Hemidesmosomes
What is Kartegener’s Syndrome?
Dysfunction of protein Dynein, resulting in inactivation of motor proteins.
Micro-tubules are affected.
What is the name of trisomy 13? outcomes?
Patau’s Syndrome
Multiple and often defected organs
What is the name of trisomy 18?
Edwards Syndrome
What is the causes of Edward’s Syndrome, and what are the symptoms?
Additional chromosome of 18
Symptoms:
Serious condition affecting the growth and development of a child. 1 in 12 babies die within a year who have it.
What is triploidy?
Extra chromosome for all chromosome. Incompatible with life.
What is Klinefelter Syndrome? What are the symptoms?
This is where there is an additional X chromosome.
The primary symptom is:
- infertility
In females the effects are modest due to the deactivation of the used chromosomes. Only the tips are still expressed.
men are usually tall and may develop breasts
What is robertsian translocation? what is the most common?
translocation of a gene with a non-homologous gene
gene 21 onto gene 14. - Down Syndrome
What Junction disorder leads to Vonwinkel Syndrome
GAP junctions
What is the most common cause of Down Syndrome?
Non - Disjunction / Aneuploidy
What is major cardiovascular concern in Pagets disease?
Heart failure due to increased cardiac output demands with increase in blood heading to the bone.
What condition seen throughout families may result in hyperlipoproteinaenmia? and what is the cause?
Familial Hypercholestrolaenmia
Unable to up regulate LDL receptors
If there is an increase in Alpha-fetal protein, what can this be suggestive of?
Neural Tube defect - often spina bifida
With a decrease in alpha-fetal protein and an increase in Beta human chorionic gonadotrophin hormone, what could be a potential diagnosis?
Down Syndrome.
*note this would only give the criteria to carry out a amniocentesis
What type of ultasound is carried out for Down Syndrome and what is significant?
Nuchal ultrasound
Increased nuchal translucency
What is Grave’s disease?
Organ specific autoimmune disease. Where antibodies attach to the Thyroid Hormone stimulating receptor - activating the thyroid.
Negative feedback is sent to the pituitary to stop sending TSH - but none is being sent to stop.
What is Sickle cell anemia and what is its causes?
A point mutation affecting the short arm of chromosome 11.
Where a base glutamic acid is replaced with Valine.
this results in dysfunctional Beta globulin chain.
