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Biologie > Klinische Topics alles > Flashcards

Klinische Topics alles Flashcards

1
Q

What are the diffferent types of cancer?

A
  1. Carcinoma: lungs, breasts, colon, prostate
  2. Leukaemia: bloodstream
  3. Lymphoma: lymphnodes
  4. Sarcoma: fat, bone, muscle
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2
Q

What cells stimulate cell suicide?

A

tumour suppressor genes

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3
Q

What is apoptosis?

A

cell suicide

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4
Q

What is metastasis

A

cancer cells spread via blood or lymphatic vessels to other sites.

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5
Q

What are the causes of breast cancer?

A

General: viruses and bacteria, chemicals, radiation, diet, hormones INTERACTION WITH heredity

> usually lots of factors combined, with most people we don’t even know the cause; it really depends on your ability to destroy bad cells

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6
Q

What are the risk factors for cancer in general?

A

» Meat consumption - colon cancer
» Cigarette consumption - lung cancer
» Combination of cigarettes and alcohol - cancer of the oesophagus
» Ultraviolet radiation - skin cancer
» Atomic radiation (X-rays) - leukemia
» Viruses and bacteria

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7
Q

WHat are the hereditary risk factors of breast cancer?

A

BRCA1 and BRCA2 gene mutated – Only 1/20 cases due to heredity

The BRCA1 and BRCA2 gene = genes that produce proteins that help repair damaged DNA.
* Chromosome 17, BRCA1 gene (also play a slight role in ovarian cancer)
* Chromosome 13, BRCA2 gene (also play a slight role in pancreas, prostate, melanoma cancer).
* Autosomal dominant

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8
Q

What are the controllable risk factors of breast cancer?

A

not having children or having them late, some types of birth control, not breastfeeding, night work, overweight, etc

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8
Q

What are the uncontrollable risk factors of breast cancer?

A

Gender (more in women), genes, menstruation, ethnicity, age, denser breast tissue, etc.

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9
Q

What happens in the case of DNA damage when developing breast cancer?

A
  • One tiny change in a DNA sequence (a single base change) can cause cancer.
  • In case of the DNA damage - clearing systems in place (e.g., P53 gene) and ensure apoptosis.
  • HOWEVER due to a defect (the risk factors mentioned above) the clearing systems don’t activate.
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10
Q

Benign vs. malignant

A

Benign
* In situ (original position)
* Abnormal growth but doesn’t spread.
* Not life-threatening
* Not cancerous

Malignant
1. Non-invasive – precancerous
* Still in situ
* Close to nearby tissue
2. Invasive – cancerous
* Spreads to other organs

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11
Q

What are the different types of breast cancer?

A
  1. DCIS
  2. IDC
  3. LCIS
  4. ILS
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12
Q

What are the signs of breast cancer?

A

» Lump/swelling in chest or armpit.
» Pain in armpits (many lymphnodes swollen)
» Redness of breast
» Rash around nipples
» Area of thickened tissue in skin
» Discharge from nipple, may contain blood.

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13
Q

How do we diagnose breast cancer?

A

» Self–examination
» Imaging tests: ultrasound, MRI, mammography
» Biopsy to confirm whether its benign or malignant.

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14
Q

What’s the treatment of breast cancer?

A

» Surgical removal of cancer in situ or full breast.
» Radiation (only if it’s very invasive)
» Chemotherapy
» Targeted drug therapy= specifically against breast cancer cells
» Hormone therapy against hormone - sensitive cells
* ER – estrogen sensitive.
* PR – progesterone sensitive.

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15
Q

Explain the TNM staging system

A

Based on:
* T = tumor size and spread
* N = spread to lymph nodes
* M = metastasis happened?

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16
Q

What are the different stages of (breast) cancer

A
  • STAGE 0: non-invasive
  • STAGE1:growth(<2cm), not yet invasive
  • STAGE 2A and B: growth + whether or not it’s spread to lymph nodes – from now on cancer.
  • STAGE 3A, B and C: growth, spreading further to lymph nodes, skin, and chest.
  • STAGE 4: metastasis has happened.
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17
Q

…(ratio) vrouwen heeft in de loop van haar leven kanker op de borst

A

1/8

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18
Q

Give some extra details on sarcoma as a type of cancer

A

metastises quickly
bad prognosis
gets noticed very late

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19
Q

explain the role of viruses in breast cancer

A

They’ll integrate into our cells and DNA, allowing themselves to replicate. They can change DNA, resulting in the production of bad cells
> different viruses for different types of cancer

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20
Q

DCIS

A

non-invasive, stays in the milk ducts, can become invasive

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21
Q

IDC

A

most common breast cancer, wall of lactiferous ducts – causing growth/invasion of surrounding breast tissue – spreads to lymph nodes and then metastases to other organs.
> accounts for 80% of invasive breast cancers!!

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22
Q

LCIS

A

in situ, non-invasive, stays in lobules, can become invasive

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23
Q

ILS

A

10% of breast cancer cases, formed in lobules, invades
nearby tissues via lymphatic vessels and metastases to other organs.

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24
Q

ductal carcinoma

A

in lactiferous ducts

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25
Q

lobular carcinoma

A

in lobules

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26
Q

Where’s the first place breast cancer can metastise to

A

the glands in the armpit area(the sentinel gland) and it’s the first place they check during surgery/examinations/ etc.

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27
Q

lifetime risks brca1/2 associated cancers

A

breast cancer: 50-70%
secondary breast cancer (or stage IV breast cancer): 40-50%
ovarian cancer: 15-55% (BRCA 1> BRCA 2)

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28
Q

BRCA 1 and BRCA 2 related risks of other cancers
- male breast cancer
- pancreatic cancer
- prostate cancer
- melanoma

A
  1. BRCA 2> BRCA 1
  2. BRCA 2
  3. BRCA 2
  4. BRCA 2
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29
Q

incidence of breast cancer by race

A

caucasian > african > asians > hispanic > native american

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30
Q

survival rates breast cancer vs. stages

A

Stage 0: 100%
Stage 1: 100%
Stage 2: 93%
Stage 3: 72%
Stage 4: 22%

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31
Q

What happens during a myocardial infarction?

A
  1. Accumulation of fat (cholesterol) in the intima = atherosclerotic plaque = atherosclerosis
    o Intima = layer underneath the top layer of cells in arteries.
  2. The accumulation of fat results in the lumen becoming smaller (creating a higher blood pressure).
  3. At some point, an ulcer forms on top of the (ruptured) atherosclerotic plaque.
  4. Our body reacts to this by forming a blood clot on top of it – increasing the risk of the artery getting blocked.
  5. If the artery gets blocked by a blood clot (thrombosis), oxygen can’t reach certain places in the heart – resulting in a myocardial infarction.
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32
Q

What are the uncontrollable risk factors of a myocardial infarction?

A

Increasing age – male gender – family history – genetic abnormalities
> this doesn’t mean you are going ot get it for sure, there are tihngs you can do to prevent it

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33
Q

What are the lesser, uncertain and unmodifiable risk factors of a myocardial infarction?

A

Obesity – physical inactivity – postmenopausal oestrogen deficiency – high carbohydrate intake – hardened unsaturated fat intake – chlamydia pneumoniae infection – high LDL

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34
Q

What are the potentially controllable risk factors op a myocardial infarction?

A
  1. hyperlipidaemia
  2. hypertension
  3. cigarette smoking
  4. diabetes
  5. C reactive protein
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35
Q

Explain hyperlipideamia in regards to myocardial infarction

A

= excess of fats/lipids in blood
o Cholesterol is important but only in certain amounts.
o We have 2 different types of cholesterol in our body.
1. LDL:Cholesterol produced by the liver that gets sentout to all our organs.
2. HDL:cholesterol that returns to the liver.
o The optimal situation = Low LDL and high HDL
o Factors that determine cholesterol levels:
1. Polyunsaturatedfats+omega-3 fatty acids + sports + limited alcohol consumption -> reduction of LDL cholesterol
2. Unsaturated fats(trans) +obesity +smoking -> LDL accumulation

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36
Q

What are the three types of atherosclerotic plaque build-up

A
  1. Aneurysm and rupture: rupture of the coronary artery
  2. Occlusion(blockage) by thrombus
  3. Critical stenosis: full blockage of the artery
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37
Q

Zone of necrosis

A

If blood doesn’t reach the designated areas in the heart, that heart-tissue can die

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38
Q

transmural infarct

A

along the endocardium (=the inner surface layer)

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39
Q

ischemia

A

a condition in which blood flow is restricted/reduced in certain parts

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40
Q

IHD

A

ischemic heart disease

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41
Q

Patients with IDH fall into two large groups:

A

1=chronic
2=acute

  1. CAD = coronary artery disease
    = Commonly present with stable angina pectoris (chest pain)
    » Episodic clinical syndrome
    » Usually crescendo-decrescendo in nature
    » Typically lasts 2-5 minutes.
    » Caused by exertion or emotion.
  2. Acute coronary syndromes
    a. NSTEMI = unstable angina pectoris and non-ST-elevation.
    » Myocardial ischemia with no evidence of muscle death
    » Can occur at rest.
    » >10 minutes
    » Severe and of new onset (within last 4-6 weeks)
    » Occurs with a crescendo pattern (gets worse)
    b. STEMI=acutemyocardialinfarctionwithST-elevation.
    » Irreversible necrosis
    » Commonly known as heart attack.
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42
Q

What are the signs of an infarction?

A

» Pain, discomfort in chest (Levine’s sign = grab to thorax, very typical)
» Dizzy, vomiting, lightheaded, diaphoresis
» Pain jaw, neck, back
» Pain in arm/shoulder (usually left)
» Shortness of breath (dyspnoea)
» 20-30% no symptoms: sudden and silent death (often diabetic, elderly, hypertension)

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43
Q

How do we clinically assess if someone had a myocardial infarction?

A
  1. ECGchanges:STsegmentelevation
    2.Blood levels :waste materials of the cardiac tissue increase (we don’t use this to diagnose, rather to rule out the myocardial infarction)
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44
Q

Treatment of a myocardial infarction (medication)

A

o Statins:i nhibit formation of atherosclerotic plaques -> Inhibits cholesterol metabolism
o Aspirin: less blood clotting (not a drug that’s made for that but the side effect of the drug helps)

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45
Q

What (surgical) procedures can be done after a myocardial infarction?

A

**1.Angioplasty: **insertion of catheter through the groin towards the blocked artery via a bloodvessel - once in place, the balloon gets inflated -> presses plaque against sides of the artery -> widening the lumen .
2. Coronary artery by pass (CABG): healthy blood vessel get removed from leg/arm/chest -> blocked vessel gets replaced by new one.
3. Transmyocardial laser revascularization

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46
Q

… % of the cases die from a myocardial infarction due to …

A

33%
cardiac arrythmias

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47
Q

why is a myocardial infarction a chronic disease

A

because it’s a progressive condition characterised by the build up of plaque in arteries over time

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48
Q

LDL

A

the primary cholesterol that builds up in the intima

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49
Q

HD

HDL

A

ensures that excess cholesterol is transported back to the liver

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50
Q

talk about alcohol consumption and a myocardial infarction

A

drinking a bit of alcohol is good for this situation!!

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51
Q

smoking one pack of cigarettes a day increases the myocardial death rate by … %

A

200%

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52
Q

talk about hypertension in regards to myocardial infarction

A

it’s worse for a brain infarction than a myocardial infarction
o 60% higher risk of atherosclerosis and eventually also myocardial infarction.
o Must be treated; if not, large portion will eventually die (to blockage of blood vessels, or heart failure)
o Gradually increases; slumbering, silent killer (from the age of 20!); you only notice it during critical stages

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53
Q

“Episodic clinical syndrome” explain in regards to CAD

A

the artery isnt completely closed but occasionally the blood doesn’t flow through properly, causing occasional short pains

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54
Q

what does unstable angina tell us

A

it usually indicates that a myocardial infarctoin is nearby and is treated very seriously

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55
Q

what does nonST elevation tell us

A

that a myocardial infarction hasn’t happened YET

56
Q

diaphoresis

A

excessive sweating

57
Q

palpitations

A

rapid pounding heartbeats

58
Q

dyspnoea

A

shortness of breath

59
Q

explain troponin levels in regards to myocardial infarction

A

if you have an infarction, troponine increases, the higher troponine, the worse the infarction

60
Q

Explain cystic fibrosis

A

Autosomal recessive disease (mutation in the CTFR gene)
* The gene codes for an epithelial chloride channel
* There are 1000 different types of mutations ont hat gene,that all lead to cystic fibrosis
* The mutation is important for the transport of ions in and out of the cell.
* The disturbed transport of water and electrolytes results in an abnormal viscosity (thick & stickyfluid) of all exocrine secretions.
* Occurs in many organs–lungs is most important–pancreas, liver, ovaries & sperm (causes infertility)

61
Q

What are the symptoms of cystic fibrosis?

A
  • Lungs – sinusitis/nasalpolyps and/or bronchial in fections
  • Pancreas- Exocrine pancreas insufficiency (= PI = insufficient digestive enzymes) and/or endocrine PI
  • Liver/gut–liver fibrosis and/or meconium ileus and/or constipation.
  • Other–salt loss in sweat and/or male infertility
62
Q

What are the first symptoms of cystic fibrosis

A

o Chronic or recurrent respiratory infections
o Weight stagnation
o A lot of crying and always hungry
o Steatorrhea
o Meconium ileus
o Signs of malabsorption

63
Q

explain the pancreas’ exocrine function in relation to cystic fibrosis

A

» The exocrine function = provides enzymes for digestion
o The chloride channels are blocked or don’t work – this causes a build-up of thick mucus – this results in digestive enzymes being unable to pass through the membrane.
o This eventually results in less to no digestion & therefor having fats in stool.

64
Q

explain the pancreas’ endocrine function in

A

» The endocrine function = create and release important hormones (insulin) directly into the bloodstream
* Insulin gets produced by Langerhans cells in the pancreas – due to the build up of mucus, those cells lose function – less insulin in blood – more sugar in blood = hyperglycaemia
* Results in diabetes mellitus

65
Q

What are the early symptoms of TYPE I diabetes?

A

» Glycosuria
» Polydipsia
» polyurea
» weight loss - due to indigestion and fluid loss
» secondary enuresis = temporary bedwetting

66
Q

glycosuria

A

lots of glucose and water in urine

67
Q

polydipsia

A

excessive thirst

68
Q

What are the later symptoms of TYPE I diabetes

A

» Ketoacidosis
» Deeper breathing, hyperventilating (for converting H+ into CO2 => less acid) - (often misdiagnosed pneumonia)
» Dehydration
» Abdominal pain (often misdiagnosed as appendicitis)
» Shock, coma due to acidic blood

69
Q

What’s the treatment for TYPE I diabetes?

A

» Continuous insulin injections
» Distinguishing between hypoglycemia and hyperglycemia is difficult => always give a definite answer by giving a sugar cube, hypoglycemia will then disappear, hyper will not.

70
Q

The lungs in regards to cystic fibrosis

A

Chronic, recurrent infections due to mucus accumulating in alveoli – breeding site for pathogens.
o Basic diseases (starts with recurring infections !!!!!)
o More intense; pseudomonas aeruginosa

Lung obstruction, progressive lung damage and destruction => bronchiectasis (bronchial bulges, lung cavities)

71
Q

Discuss treatment for cystic fibrosis in regards to the lungs

A

EARLY TREATMENT?
o Antibiotics daily (to prevent bacteria from developing)
o Physiotherapy to remove tough mucus from the airways through certain movements, etc. o Airway clearance (e.g., aerosol) (2x daily)

TREATMENT IN SEVERE CASES?
o lung transplant, artificial respiration, …
o Due to chronic, progressive (destruction lungs irreversible) course it often leads to lung failure, earlier death

72
Q

How do we diagnose cystic fibrosis?

A

Neonatal (newborn) screening
1. Genetic test – only for 2 most common mutations & for multiple other dangerous diseases, not just CF.
2. Sweat test – electrical stimulation of sweat glands – detects raised sweat chloride concentration.

Follow-up
o Clinical follow up to determine how far CF has evolved.
o Spirometry = measures the amount you can inhale & rate of exhalation
(The slower the rate of exhalation & volume – the more evolved)
o CT scan and X-rays to determine development of CF.
o Sputum samples (examines saliva)

73
Q

Discuss treatment for cystic fibrosis

A
  1. Mucolytic medication – breaks mucus layer down
    2.Techniques to excrete mucus from lungs (either with machines or without)
  2. Antibiotics
    4.Lung transplant

Evolution in treatments – more modern – gene therapy
o Previously mainly symptomatic treatment – now proactive avoidance of development by intervention at genetic/cellular level.
o Gene replacement/ protein produced by gene replacement.
o Modulations ion channel

74
Q

What does the CTFR gene do

A

The gene codes for an epithelial chloride channel
it handles the transport of chloride ions out of the cell

75
Q

What happens in a mutant CTFR channel?

A

chloride ions can’t elave the cell, causing a sticky mucus to build up on the outside of the cell
- causing a slimy “situation” in all organs, and being a perfect breeding environment for bacteria to grow

76
Q

what are the percentage rates of the first symptoms

A

Chronic or recurrent respiratory infections = 50%
Weight stagnation = 40%
A lot of crying and always hungry
Steatorrhea (fatty diarrhoea) – fat that couldn’t be absorbed = 30%
Meconium ileus = 10%
Signs of malabsorption < 5%

77
Q

pancreas enzyme treatment are given with every meal, what are the called?

A

creons

78
Q

polyurea

A

excessive peeing

79
Q

What’s the incidence rate of TYPE 1 diabetes in north europe

A

2/1000
its been increasing over the past years

80
Q

what’s hypoglycemia and what are the symptoms

A

not enough sugar in blood
= most dangerous compared to hyperglycemia

= mood swings, headache, pale, tired, hungry, trembling, dizzy, sweating, poor vision

81
Q

W

WHat’s hyperglycemia and what are the symptoms

A

too much sugar in blood

= drowsy, urinating, tired, thirsty, dry tongue.

82
Q

meconium ilius

A

a bowel obstruction that occurs when the meconium in the child’s intestine is even thicker and stickier than normal meconium, creating a blockage in a part of the small intestine called the ileum.

83
Q

meconium

A

the early stool passed by a new-born soon after birth

84
Q

Steatorrhea

A

= fatty diarrhoea - fat that couldn’t be absorbed

85
Q

what’s (possible) treatment of cystic fibrosis in relation to the endocrine function of the pancreas

A
  • Pancreas enzyme supplements with every meal - Calorie - rich, fat rich meals
  • Vitamin supplements ADEK
86
Q

secondary enuresis

A

temporary bedwetting

87
Q

Ketoacidosis

A

ketones (breakdown product glucose) are acidic, causing body to become more acidic – dangerous.

88
Q

Spirometry

A

measures the amount you can inhale & rate of exhalation
(The slower the rate of exhalation & volume – the more evolved the cystic fibrosis)

89
Q

inflammation ….. infection

A

IS NOT

90
Q

What are the two major forms of IBD

A
  1. Crohn’s disease
  2. Ulcerative colitis
91
Q

epidemiology of IBD

A

o Peak between the ages of 15-30 and second peak between the ages of 60-80.
oMore frequent in“rich” countries/places such as north America, Scandinavia, andEurope.

92
Q

Where does UC begin

A

Colon and rectum

93
Q

Where does CD begin

A

Any part of the GI tract

94
Q

describe the development of UC

A

Continuous pattern of inflammation

95
Q

describe the development of CD

A

Skips lesions

96
Q

describe the onset of UC

A

Acute (sudden/rapid) onset

97
Q

describe the onset of CD

A

Gradual onset

98
Q

What happens within patients with UC

A

»Ulcers, ulcerations, (pseudo)polyps, bulges in mucosa
»Normal architecture damaged
»Microbiome affected.
» BLOOD IN STOOL
»Can cause colon cancer

99
Q

What happens within patients with CD

A

» Entire intestinal wall affected.
» Granulomas (inflammations)
» Thicker wall, smaller lumen
» Cobble stones
» Perforations – stool leaks into abdominal cavity

100
Q

What are the symptoms of UC

A

» Rectal bleeding
» Having to go to the toilet very often
» Loose stools
» Abdominal pain on the lower left side
»Tenesmus: urge to defecate
» Blood in stool

101
Q

WHat are the symptoms of CD

A

» Chronic and nocturnal diarhhea OR constipated
» Pain in lower right abdomen
» Weight loss
» Mild fever
» Increases in severity with age = progressive disease
» absecces and fistulae

102
Q

What are the extra intestinal symptoms of UC

A

»Joint pain
»Canker sore(aften) in mouth
»Spinal deformation due to inflammation
»Slow healing wounds
»Erythema nodosum
»Eye bleeding

103
Q

WHat are the extra-intestinal symptoms of CD

A

» Inflammated joints
» Same as ulcerative colitis
» Kidney problems
» Galstones
» Liver problems

104
Q

Crohn’s disease clinical features

A

(1) Inflammation -> small intestine (abdominal pain, diarrhea, and fever) & large intestine (diarrhea, blood loss, weight loss and fever)
(2) Stricturing -> Bowel obstructions due to wall thickening
(3) Penetration -> abscesses and fistulae (abnormal passages get formed)

105
Q

describe the pathogenesis of IBD

A
  1. Genetic susceptibility: some kind of genetic predisposition – variants that cause an exaggerated inflammatory response.
  2. Immune response: the overreactive immune response – people with IBD react worse to inflammations.
  3. Environmental triggers: we see that IBD is more common inn wealthy countries so environmental factors do play a role HOWEVER we’re not really sure which ones.
  4. Microbiome (more recently added): the collection of all bacteria that live inside our intestines – people with IBD have distinctively different microbiomes than their family members without IBD.
106
Q

Risk factors that can cause IBD

A

» Diet
» Infection – if people with a genetic predisposition get certain infections, their body will react with an exaggerated inflammatory
response = the start of IBD
o Crohn’s – mycobacterium paratuberculosis
o Ulcerative colitis - after episodes of infective diarrhea
» Appendectomy (ONLY UC)
» Stress – stress triggers a relapse of IBD (NOT THE CAUSE BUT CAN TRIGGER RELAPSE)

107
Q

What actually happens within the body during the overreactive immune response? (IBD)

A

= it’s an abnormal reaction of the T-cells that cause an exaggerated inflammatory response
o (Causative agents+luminal factors+modifying factors)–cause an inflammation.

But HOW?
o Lymphatic T-cells get sent to the affected zone.
o These T-cells cause the exaggerated inflammatory response.
o If the response is not transmural then it’s UC, if it is then it’s Crohn’s disease.

108
Q

Explain the diagnosis of IBD

A
  1. Blood tests – check for c-reactive protein which gets released in blood during an inflammatory reaction
  2. Stool studies
  3. Colonoscopy (=most frequently done) and endoscopy
    a. Ileo-colonoscopy with biopsies (sometimes with small intestine as well)
    b. Upper endoscopy with biopsies
    (Capsule endoscopy - capsule with camera = still in development)
109
Q

Explain the treatment of IBD

A

= the main goal of the treatment is to minimize the intestinal inflammation + improve general health + repair/heal the mucosa

Pharmacological management
o Anti-inflammatory agents: 5-amino salicylic acid (5-ASA)
o Steroids, cortisone they suppress the immune system HOWEVER can only be given for acertain number of days.
o Anti-tumor necrosis factor(anti-TNF) agents–TNF is a protein in your body that causes inflammation (everything that can be given ends with …mab)
o Probiotics – they strengthen the microbiome daily.

110
Q

Is UC transmural or not

A

no, NOT transmural

111
Q

Is CD transmural or not

A

yes, transmural

112
Q

Tenesmus

A

urge to defecate

113
Q

abscesses

A

localized collections of pus that result from an infection

114
Q

fistulae

A

abnormal connections or tunnels that form between two organs or between an organ and the outside of the body
- the transmural inflammation can lead to the formation of fistulae

115
Q

Erythema nodosum

A

red spots on legs

116
Q

explain the role of appendectomy in UC

A

people that get an appendectomy are less likely to develop UC, and people who developed UC after appendectomy were less likely to develop recurrent disease. = less severe course

117
Q

What are the causes of tuberous sclerosis

A
  1. Genetic inheritance (autosomal dominant); majority of cases
  2. De-novo mutation; minority of cases
118
Q

What do the non-mutated TSC-genes normally do?

A

The non-mutated TSC genes normally produce proteins that form a complex to inhibit mTOR. This inhibition is crucial to prevent excessive protein synthesis and uncontrolled cell growth.

119
Q

Explain how TSC symptoms can be seen on the skin

A

o White spots (depigmentation) due to abnormal formation of cells
o Special kind of acne (small tumors)
o Benign growths on nails (fibromas)
o Benign growths at the level of the gums
o Fibrous plaques on forehead, …

120
Q

Explain how TSC symtpoms can affect cognitive abilities

A

o Mental retardation
o Social communicative, language, attention, executive functions,memory
o Fine motor problems

121
Q

Explain how TSC can cause behavioural problems

A

o Autism, ADHD, aggression, resistant to change
oNegativity, emotionally fragile, depressive episodes, anxiety disorders, sleep disorders, psychotic disroders related to epilepsy.

122
Q

discuss the onset of symptoms of TSC

A

o Cardiac symptoms start early on, but they disappear
relatively quickly by themselves.
o Renal symptoms start early on and go on the age of 60.
o Cerebral early on into early adulthood (dangerous because
that’s a critical time for brain development)
o Skin symptoms start during puberty and leave at the age of 40.
o Lungs often from adult hood onwards.

123
Q

epislepsy in TSC patients (percentages)

A

o Epilepsy in 90% of TSC patients
o 71% of patients develop seizures in the first 2 years of life.

124
Q

How do we know the patient is having a seizure apart from looking at the body language?

A

An EEG
o An EEG picks up the electrical signals that are produced by the brain.
o During these epileptic seizures–we can’t see any sort of constant pattern in electrical signals–this means that there’s no structure in brain activity at all.
o During the time that these kids are having these seizures, they can’t learn anything new.

125
Q

discuss individual differences of TSC patients

A

o How big the tumors are and where they’re located.
o Whether or not the tumors can be surgically removed.
o Different amount of attacks
o the same mutations can cause different gradations of TSC

126
Q

What are the different types of epilepsies in TSC

A
  1. Epileptic spasms/Infantile spasms (West Syndrome)
  2. Focal epilepsy
  3. Symptomatic generalized epilepsy (Lennox Gastaut epilepsy)
127
Q

discuss the diagnosis of TSC

A

Prenatal diagnosis is possible today, using ultrasound or MRI; detecting tumor (especially in heart; rhabdomyomas a lot of certainty for TSC)
o Discussion about abortion: there is also a chance that the child will have little or no problems with TSC

Age at diagnosis is often very early (20% even antenatal(before birth), the rest mainly in the first year of life;
then treatment is certainly still possible, but will in any case have less effect than if from birth)

128
Q

Discuss the treatment of TSC

A
  • Ketogenic diet can sometimes help against epilepsy.
  • mTOR inhibitors (e.g., everolimus)
  • Study: strong decrease and significant difference with placebo group; but poor decrease to 50%
  • Declaration: pts already 2 years at the start of treatment; the earlier, the greater the effect!
129
Q

What does autosomal dominant mean

A

o Autosomal = the gene in question is located on one of the non-sex chromosomes
o Dominant=a single copy of the mutated gene is enough to cause the disorder.

130
Q

what does de-novo mutation mean

A

Fertilization mutations, in child itself

131
Q

what are the 2 most common mutations of TSC

A

o Chromosome 9, TSC1 gene
o Chromosome 16, TSC2 gene (MORE SERIOUS)

132
Q

what;s the incidence rate of TSC

A

1/6000

133
Q

Without inhibition by the TSC complex ….

A

… mTOR activity remains unchecked, leading to excessive protein synthesis and cell growth. This can result in abnormal tissue growth and the formation of tumors, which is characteristic of TSC.

134
Q

fibromas

A

benign growths on nails

135
Q

Epileptic spasms/ infantile spasms (West syndrome)

A

The seizures look like a sudden bending forward of the body with stiffening of the arms and legs for one or two seconds – They often happen in many clusters, with hundreds of seizures a day.

136
Q

Focal epilepsy

A

They are characterized by seizures arising from a specific part (lobe) of the brain.

137
Q

Symptomatic generalised epilepsy (Lennos Gastaut epilepsy)

A

A type of epilepsy with multiple different types of seizures, particularly tonic (stiffening) and atonic (drop) seizures.
o Difficult to treat, especially with TSC patients.

138
Q

discuss mtor inhibitors as treatment against TSC

A

they inhibit mTOR pathways, the tubers become smaller and epilepsy decreases

Biologie (10 decks)

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