cystic fibrosis
Is cystic fibrosis mono genie or polygenic ? Which gene/s is/are mutated on cystic fibrosis?
monogenic, CFTR
What is atrial septal defect and what is ventricular septal defect?
Hole is septum of heart , ASD is a hole in septum between atria, VSD is a hole in septum between ventricles
What is insulin ?
A hormone that regulates blood sugar levels by facilitating the uptake of glucose into cells.
What is brugada syndrome?
A rare genetic disorder is characterized by abnormal heart rhythms and an increased risk of sudden cardiac death.
What is the medical/ full name for autism ?
Autism spectrum disorder
2 symptoms of CF ?
Chronic coughing, lung infections, difficulty breathing, digestion problems and poor growth
name one test/method used to diagnose congenital heart diseases
Physical examination , MRI, Chest X rays, echocardiogram, electrocardiogram
What is the pattern of inheritance of diabetes?
autosomal or not ? Dominant or recessive?
Autosomal recessive
Is brugada syndrome dominant or recessive disease ?
Dominant
What us the pattern of inheritance of autism ? Dominant or recessive?
both , depending on the case
How is cystic fibrosis diagnosed ?( 1 way)
Through newborn screening , sweat tests and genetic testing to identify mutations in CFTR gene.
How do congenital heart defects affect cardiac function ?
They can alter normal blood flow, leading to issues such as increases work load on heart, inefficient circulation, arrhythmia, heart failure .
Are diabetes 1 and 2 , polygenic or monogenic?
Polygenic
Which gene mutations are commonly associated with brugada syndrome?
SCNSA ( it affects sodium channels in the hearts )
What are common signs of autism?
Social communication difficulty , repetitive behaviors or routines and intense focus on specific interests.
What body systems are affected by CF?
Reproductive system , digestive system , respiratory system.
How does an echocardiogram help in diagnosing congenital heart disease?
An echocardiogram uses ultrasound waves to create images of the heart’s structure and function helping to identify defects, assess heart chambers, and evaluate blood flow.
What are diabetes symptoms?
Going to toilet more often, more thirsty and more tired , losing weight, blurred eyesight and increased hunger.
Can genetic testing identify Brugada syndrome, yes or no ?
Yes
Can autism be diagnosed through medical test?
no , it’s diagnosed through child’s developmental history and behavior.
Explain the detailed process that causes thicker mucus?
Na and Cl ions move into cells( normal process in the body that helps with water movement) , faulty CFTR gene will trap Na and Cl ions inside the cell, Making concentration of of water more on the outside of the cell, so water moves into the cell(down water potential gradient) which leaves the mucus thick and sticky
How is cardiac catheterization done and what is its role in congenital heart diseases ?
It involves inserting a catheter through blood vessels to the heart to diagnose defects, measure pressures and sometimes perform repairs or intervention When a heart disease is present.
What is the gene that leads to an increased risk of type 2 diabetes if mutated ?
TCF7L2 gene
How does the medicine sodium channel blockers affect brugada syndrome
Yes, Brugada syndrome can be triggered by this type of medication.
Is autism a polygenic disease or a monogenic disease ?
Can be both depending on the case