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Medical Studies 1 > Week 8 Respiratory > Flashcards

Week 8 Respiratory Flashcards

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USMLE® Step 1 flashcards
1
Q

what does SARS-CoV-2 stand for

A

severe acute respiratory syndrome coronavirus 2

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2
Q

Outline the epidemiology of SARS-CoV-2

A

Virus factors- virus genome mutates, leading to changes in viral proteins
Virus transmission-Zoonotic infection, respiratory and faecal-oral transmission
Host factors-receptors expressed by different hosts, ACE 2 receptors, contact with animals, air travel and other human behaviours

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3
Q

Outline the pathophysiology of COVID19

A

-infection of endothelial cells
-spread of virus
-innate immune response activated
-cytokine storm
-ARDS
-activation of ACE-2
-post covid symptoms

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4
Q

what are the post acute COVID 19 symptoms

A

fatigue, dyspnoea, cough, chronic co morbidities eg CKD

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5
Q

Name the two phases of COVID-19 infection

A

-rapid viral propagation
-uncontrolled inflammatory response (cytokine storm)

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6
Q

what are the phases of rapid viral propagation

A

-exposure and entry
-initial replication
-symptom onset
-viral shedding

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7
Q

describe the exposure and entry phase of rapid viral propagation

A

the infection begins with exposure to the SARS-CoV-2 virus, primarily through respiratory droplets. The virus enters the body through the respiratory tract (nose or mouth)

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8
Q

describe the initial replication phase of rapid viral propagation

A

after entry, the virus rapidly replicates in the URT (throat and nasal passages), it then spreads to LRT where it can infect the lungs

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9
Q

describe the symptom onset phase of rapid viral propagation

A

during the phase, many individuals may remain asymptomatic or experience mild to moderate symptoms, including fever, cough, sore throat, loss of taste or smell

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10
Q

describe the viral shedding phase of rapid viral propagation

A

infected individuals can shed the virus and are contagious during this phase, contributing to spread of disease to others

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11
Q

Describe what is meant by a cytokine storm

A

-During programmed cell death (PCD), pro-inflammatory cytokines are released.
-This can trigger a cytokine storm, an excessive immune response.
-Cytokines include PAMPs (pathogen-associated molecular patterns) and DAMPs (damage-associated molecular patterns), signaling danger to the immune system.
-A cytokine storm can cause widespread inflammation.
-This inflammation can result in end-organ damage (lungs, liver, kidneys) as the immune response becomes harmful instead of protective.

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12
Q

list the symptoms of COVID-19

A

fever
cough
fatigue
anosmia
sore throat
dyspnoea
headache

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13
Q

describe fever aș a symptom of COVID 19

A

Elevated body temperature, often a common early (premature) symptom of COVID-19

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14
Q

describe cough as a symptom of COVID 19

A

persistent dry or productive cough, typically accompanied by respiratory discomfort

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15
Q

describe fatigue as a symptom of COVID 19

A

profound tiredness and weakness, a common symptom experienced during COVID 19 infection

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16
Q

describe anosmia as a symptom of COVID 19

A

an abrupt loss or alteration of ones ability to smell, associated with COVID 19

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17
Q

describe sore throat as a symptom of COVID 19

A

a scratchy or painful throat, sometimes accompanied by difficulty swallowing can be a symptom of covid 19

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18
Q

describe dyspnoea as a symptom of COVID 19

A

SOB can present in severe COVID 19

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19
Q

describe headache as a symptom of COVID 19

A

a persistent and often severe headache, which can accompany other COVID symptoms

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20
Q

Outline acute respiratory distress syndrome as a complication of COVID

A

-in the second phase of COVID T2 alveolar cells can lose the ability to secrete surfactant
-this is due to structural changes to lungs (dysregulated pro-inflammatory cytokine release)
-ARDS can lead to tachypnoea, low blood O2, rattling sound on auscultation

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21
Q

List the preventions for COVID

A

-social distancing
-mask wearing
-vaccination
-hand hygiene

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22
Q

describe social distancing as prevention for COVID 19

A

maintain physical distancing of at least 2 m from others, particularly in high risk and crowded areas

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23
Q

describe mask wearing as a prevention for COVID

A

encourage face mask use, especially indoor or crowded areas to reduce spread of respiratory droplets

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24
Q

describe vaccination as a prevention for COVID

A

encourage eligible individuals to receive COVID vaccines to reduce risk of infection and severe symptoms

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25
Q

describe hand hygiene aș a prevention for COVID

A

promote good hand hygiene, including regular hand washing with water and soap/ hand sanitiser (>60% ETOH)

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26
Q

list the managements for COVID

A

analgesics
antivirals
oxygen therapy

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27
Q

describe analgesic use for managing COVID

A

analgesics can help reduced fever and provide relief from pain and inflammation

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28
Q

describe antiviral use for managing COVID

A

use antiviral medication like remdesivir in moderate to severe cases under medical conditions

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29
Q

describe oxygen therapy for managing COVID

A

administer supplemental oxygen for individuals with low blood oxygen levels due to severe respiratory symptoms

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30
Q

list the aetiological classifications of pneumonia

A

-bacterial
-viral
-aspiration
-atypical
-opportunistic

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31
Q

what is bacterial pneumonia

A

lung infection caused by bacteria (often Strep pneumoniae), leading to lung inflammation

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32
Q

what is viral pneumonia

A

lung infection caused by viruses such as influenza or respiratory syncytial virus (RSV), leading to lung inflammation

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33
Q

what is aspiration pneumonia

A

inflammation of lungs due to inhaling foreign material typically gastric contents into airways

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34
Q

what is atypical pneumonia

A

pneumonia caused by atypical pathogens like mycoplasma or chlamydia, often have milder symptoms

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35
Q

what is opportunistic pneumonia

A

lung infection occurring in individuals with weakened immune systems, caused by pathogens not typically harmful to healthy individuals

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36
Q

list the acquisition-based classifications of pneumonia

A

-community acquired
-healthcare acquired
-ventilator associated

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37
Q

what is community acquired pneumonia

A

pneumonia acquired outside of healthcare settings, often caused by common bacteria or viruses

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38
Q

what is healthcare acquired pneumonia

A

pneumonia that develops during or after hospitalisation or other healthcare interventions, often involving drug-resistant bacteria

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39
Q

what is ventilator associated pneumonia

A

pneumonia developing in patients on mechanical ventilation, often due to hospital acquired infections

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40
Q

cause of community acquired pneumonia

A

-bacteria, viruses, fungi in community

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41
Q

cause of healthcare acquired pneumonia

A

-bacteria or multi-drug resistant pathogens acquired in hospitalisation or long term care

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42
Q

cause of ventilator associated pneumonia

A

-hospital acquired Bacteria that enters lungs via mechanical ventilation support

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43
Q

list the clinical symptoms and signs of pneumonia

A

-productive cough
-dyspnoea
-pleuritic chest pain
-hypoxia
-dullness to percussion
-decreased breath sounds
-bronchial breathing
-coarse crackles
-increased vocal resonance

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44
Q

describe productive cough as a symptom of pneumonia

A

cough that produces mucus or phlegm (common in pneumonia)

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45
Q

describe dyspnoea as a symptom of pneumonia

A

SOB due to reduced lung function in pneumonia

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46
Q

describe pleuritic chest pain as a symptom of pneumonia

A

sharp chest pain worsened by deep breathing or coughing, indicating inflammation of pleura (lining of lungs)

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47
Q

describe hypoxia as a sign of pneumonia

A

insufficient oxygen in body’s tissues, a potential consequence of pneumonia when the lungs can’t supply enough oxygen to blood stream

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48
Q

describe dullness to percussion as a sign of pneumonia

A

A less resonant or “thud” sound heard when a healthcare provider taps the chest with their fingers, indicating possible consolidation of lung tissue in pneumonia.

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49
Q

describe deceased breath sounds as a sign of pneumonia

A

Reduced or absent breath sounds in a specific lung area, suggestive of blocked airways or consolidation.

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50
Q

describe bronchial breathing as a sign of pneumonia

A

Abnormal lung sounds with a hollow, echoing quality, often heard over areas of lung consolidation in pneumonia.

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51
Q

describe coarse crackles as a sign of pneumonia

A

Abnormal lung sounds resembling crackling or rattling, typically due to the movement of fluid or mucus in the airways, common in pneumonia.

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52
Q

outline the pathophysiology of pneumonia

A

-underlying agent (bacteria or virus etc)
-colonisation of nasopharynx
-micro-aspiration
-colonisation of lung parenchyma
-programmed cell death
-release of pro-inflammatory cytokines
-systemic inflammatory response
-end organ and systemic inflammatory-associated damage

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53
Q

identify the complications of pneumonia

A

-sepsis
-lung abscess
-respiratory failure
-kidney failure
-neurological effects

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54
Q

describe sepsis as a complication of pneumonia

A

life threatening systemic response to infection, which can occur when pneumonia bacteria or viruses enter the blood stream

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55
Q

describe lung abscess as a complication of pneumonia

A

pockets of pus forming within the lung tissue, often requiring drainage or surgical intervention

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56
Q

describe respiratory failure as a complication of pneumonia

A

inability of the lungs to provide sufficient oxygen in the bloodstream and remove carbon dioxide, a serious consequence of pneumonia

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57
Q

describe kidney failure as a complication of pneumonia

A

impairment to kidney function, which can result from severe pneumonia and its impact on body’s overall physiology

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58
Q

describe neurological effects as a complication of pneumonia

A

rare issues affecting the NS, such as alerted mental states or confusion, occasionally associated with severe pneumonia

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59
Q

what is the severity parameter for pneumonia

A

SMART COP

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60
Q

what does SMART COP stand for

A

-systolic BP
-multi-lobar CXR involvement
-albumin (low)
-respiratory rate (>30 or >25 dep. on age)
-Tachycardia (>125)
-confusion
-O2 saturation (<90%)
-pH (<7.35)

(all worth 1 except O,P)
(score >5 is bad)

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61
Q

list the investigations for pneumonia

A

-CBC
-EUCA
-Viral swab
-Sputum MCS
-CXR
-bronchoscopy

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62
Q

purpose of CBC in Dx pneumonia

A

looking for high white cell count and raised inflammatory markers (C-reactive protein)

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63
Q

purpose of EUCA in Dx pneumonia

A

looking for implications on renal functions due to electrolytes, urea, creatinine changes

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64
Q

purpose of viral swabs in Dx pneumonia

A

looking for presence of an underlying viral contributor to pneumonia

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65
Q

purpose sputum MCS in Dx pneumonia

A

looking for bacterial contributors to pneumonia eg S.pneumoniae

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66
Q

purpose of CXR in Dx pneumonia

A

looking for consolidation and parapneumonic effusion/empyema

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67
Q

purpose of bronchoscopy in Dx pneumonia

A

flexible camera that enters via mouth/nose and suctions out mucous and can be used for biospy

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68
Q

List the management of community acquired pneumonia

A

-antibiotics
-symptomatic alleviation
-supportive management
-nutrition assessment

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69
Q

describe use of antibiotics for pneumonia management

A

used in the case of bacterial pneumonia, the specific antibiotic depends on the underlying bacterium causing the pneumonia; augmentin is first-line treatment

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70
Q

describe symptomatic alleviation as management for pneumonia

A

as required, to maintain stable SpO2 of >92% unless CO2 retainer, where aim saturations are 88-92%

71
Q

describe supportive management for pneumonia

A

pulmonary rehab programs and input form a MD team to enable prompt and swift recovery with necessary lifestyle changes

72
Q

describe nutrition assessment as a management for pneumonia

A

malnutrition is a common cause of pneumonia, so nutritional assessment may be required to remove a potent risk factor for future pneumonia episodes

73
Q

Outline the pathogenesis of TB

A

-M.tuberculosis enters the upper airways
-first line: attempted phagocytosis by alveolar macrophages (if engulfed, infection is controlled)
-M.TB migrates to lymph nodes, activating t and b cells
-t and b cells are recruited to the lung parenchyma
-b and T cells enable macrophages to differentiate into epithelioid cells
-fusion of epithelial cells to from langhan’s giant cells (granuloma)
-granuloma encases M.TB, preventing its spread and proliferation

74
Q

list the characteristics of Mycobacterium tuberculosis

A

slow growth
waxy cell wall

75
Q

describe M.tuberculosis having a ‘slow growth’

A

M.tuberculosis has a relatively slow replication rate, which can make it challenging to culture and treat, contributing to the prolonged cause of TB infection

76
Q

describe M.tuberculosis having a ‘waxy cell wall’

A

the bacterium’s cell wall is rich in waxy lipids, including mycotic acids, providing protection and resistance to environmental stresses and host immune responses, making it a unique feature of of M.tuberculosis

77
Q

list the symptoms and signs of TB

A

-chronic cough
-haemoptysis
-chest pain
-dyspnoea
-loss of appetite
-night sweats
-fatigue
-general inspection

78
Q

describe chronic cough as a symptom of TB

A

a persistent, long lasting cough that may produce septum and is a hallmark of TB

79
Q

describe haemoptysis as a symptom of TB

A

coughing up blood or blood-tinged sputum, often associated with advanced TB

80
Q

describe chest pain as a symptom of TB

A

discomfort or pain in the chest, which can be sharp or aching and is often related to inflammation of lung tissue

81
Q

describe dyspnoea as a symptom of TB

A

SOB or difficulty breathing, typically due to lung damage caused by TB

82
Q

describe loss of appetite as a symptom of TB

A

a reduced desire to eat or unintended weight loss, common in TB due to the infections impact on overall health

83
Q

describe night sweats as a symptom of TB

A

sweating profusely during sleep, often accompanied by low grade fever, classic symptom of TB

84
Q

describe fatigue as a symptom of TB

A

persistent feeling of tiredness or weakness, which can be a result of the body’s efforts to combat TB infection and the associated inflammation

85
Q

describe general inspection as a sign of TB

A

pallor, wasted appearance (cachectic), clubbing

86
Q

list the symptoms and signs of extra pulmonary TB

A

haematuria
headache
back pain
hoarseness
abdominal discomfort

87
Q

describe haematuria aș a symptom of extra pulmonary TB

A

blood in urine due to TB of kidney/GI system

88
Q

describe headache as a symptom of extra pulmonary TB

A

headache or confusion due to TB meningitis, a rare complication

89
Q

describe back pain as a symptom of extra pulmonary TB

A

persistent back pain due to TB of the spine or MSK system

90
Q

describe hoarseness as a symptom of extra pulmonary TB

A

voice hoarseness due to TB of the larynx or the upper airways

91
Q

describe abdominal discomfort as a symptom of extra pulmonary TB

A

abdominal discomfort, distension, and bloating due to peritoneal TB

92
Q

list the investigations for TB diagnosis

A

-sputum microscopy
-sputum culture
-drug sensitivity
-CXR

93
Q

describe sputum microscopy as a investigation for TB dx

A

a diagnostic technique that involves examining a patients sputum (phlegm) under a microscope to detect the presence of Tb bacteria (acid fast bacili) and confirm a TB infection

94
Q

describe sputum culture for TB Dx

A

a lab test where a sample of a patients sputum is cultured to grow and identify M.tuberculosis bacteria, allowing for a definitive dx of TB

95
Q

describe drug sensitivity as an investigation for TB dx

A

testing performed on cultured TB bacteria to determine their susceptibility to specific anti-TB drugs, guiding the choice of an effective treatment regimen for the patient’s strain of TB

96
Q

describe chest x ray as an investigation for TB dx

A

there is no unique TB pattern, however fibro-nodular changes are common

97
Q

list the common complications of TB

A

-pleural effusion
-haematogenous TB
-cardiac TB
-ocular TB
-hepatic TB
-GI TB

98
Q

describe pleural effusion as a complication of TB

A

TB invades pleura leading to inflammation and accumulation of fluid in the pleural space, causing chest pain and breathing difficulties

99
Q

describe haematogenous TB as a complication of TB

A

spread of TB through the bloodstream, potentially affecting various organs and systems

100
Q

describe cardiac TB as a complication of TB

A

TB infection of the heart or its membranes, leading to heart-related symptoms and complications

101
Q

describe ocular TB as a complication of TB

A

TB involving the eye, leading to eye pain , visual disturbances or even blindness

102
Q

describe hepatitis TB as a complication of TB

A

TB affecting the liver, which may result in hepatomegaly or liver dysfunction

103
Q

describe gastrointestinal TB as a complication of TB

A

TB in the digestive tract, causing symptoms like abdominal pain, diarrhoea and weight loss

104
Q

how to treat bacterial pneumonia

A

treatment with specific antibiotics (amoxycillin for S.pneumoniae)

105
Q

how to treat viral pneumonia

A

treatment with oseltamivir only in cases with risk factors for poor outcomes of influenza (pregnant).; cease immediately when influenza is ruled out

106
Q

principles for managing TB

A

NEVER use one drug only and NEVER add one drug to a failing regimen

107
Q

what are the two phases of TB

A

intensive and continuation

108
Q

what is the management for intensive (bactericidal) phase of TB

A

isoniazid, rifampicin, pyrazinamide, ethambutol (treat for 2 months)

peri

109
Q

what is the management for continuation (sterilisation) phase of TB

A

isoniazid, rifampicin (treat for 4 months)

110
Q

what is DOT

A

directly observed therapy
-involves a practitioner observing treatment administration.
-ensures compliance and monitors for side effects.
-can be done in person or via video.
-recommended for patients with cultural barriers, cognitive issues, or high-risk cases

111
Q

distinguish classification of acute and chronic chest infection

A

Acute chest infection is defined as infection that lasts <3 weeks in duration; anything longer is defined as a chronic chest infection.

112
Q

what is persistent infection aka

A

persistent chest infection is the preferred term for chronic chest infection and is characterised by stability and interruptions by exacerbations.

113
Q

what is the pathogenesis of chronic chest infection

A

-Underlying lung pathology
-Inflammation
-Impaired (ability to clear secretions,
respiratory effort, cough or gag reflex, immunocompromised patients)
-microbial colonisation
-Infection
-Further inflammation
-Further damage in a vicious
cycle

114
Q

risk factors for persistent chest infection

A

-inability to clear secretions
-reduced respiratory effort
-decreased cough or gag reflex
-immunocompromised patients

115
Q

list the clinical features of persistent chest infection

A

productive cough
malaise
chest pain
fever

116
Q

describe productive cough as a symptom of persistent chest infection

A

cough that produces mucus or phlegm

117
Q

describe malaise as a symptom of persistent chest infection

A

general feeling of discomfort or unease, often accompanied by fatigue

118
Q

describe chest pain as a symptom of persistent chest infection

A

discomfort or pain in chest area, can vary in intensity

119
Q

describe fever as a symptom of chest infection

A

elevated body temperature, often a sign of infection or inflammation

120
Q

list the treatment methods for persistent chest infection

A

antibiotics
airway clearance
vaccination
education
smoking cessation
emergency pack use

121
Q

describe antibiotic use for persistent chest infection

A

medications that target and eliminate the infectious agents responsible for chest infection (only of bacterial aetiology)

122
Q

describe airway clearance as a treatment for persistent chest pain

A

techniques and therapies to help remove mucus and improve airflow in the respiratory tract

123
Q

describe vaccination for treatment in present chest infection

A

preventative immunisation to protect against specific respiratory infections

124
Q

describe education as a treatment for persistent chest infections

A

providing information and guidance on managing the condition and preventing exacerbation

125
Q

describe smoking cessation as a treatment for persistent chest infection

A

quitting smoking to reduce respiratory infection and lower risk of recurrent infections

126
Q

describe emergency pack use as treatment for persistent chest infection

A

the use of a prepared kit containing necessary mediations and instructions for managing acute exacerbations of chronic chest infections

127
Q

what is bronchiectasis

A

chronic respiratory condition characterised by the abnormal widening and scarring of the airways in the lungs, leading to recurrent infections and mucus build-up

128
Q

what are the events in the pathogenesis of bronchiectasis

A

-impaired drainage/obstruction
-host response
-transmural inflammation

129
Q

describe the impaired drainage part of bronchiectasis

A

impairment of mucus clearance and drainage within the airways due to structural abnormalities, leading to mucus accumulation and bacterial growth.

130
Q

describe host response as part of bronchiectasis

A

In response to chronic infection and inflammation, the body’s immune system mounts a prolonged defence, contributing to tissue damage and the perpetuation of the condition.

131
Q

describe the transmural inflammation part of bronchiectasis

A

Bronchiectasis is associated with inflammation that extends through the full thickness of the airway wall, leading to structural changes in the bronchi and bronchioles.

132
Q

list the clinical features of bronchiectasis

A

productive cough
dyspnoea
sleep changes
change in appetite
systemic infection

133
Q

describe productive cough as a symptom of bronchiectasis

A

Bronchiectasis patients often experience a persistent cough that produces excessive mucus or sputum.

134
Q

describe dyspnoea as a symptom of bronchiectasis

A

Shortness of breath is a common symptom, which can worsen during physical activity or exacerbations.

135
Q

describe sleep changes as a symptom of bronchiectasis

A

sleep disturbances may occur due to coughing, breathlessness, or discomfort.

136
Q

describe appetite changes as a symptom of bronchiectasis

A

some individuals with bronchiectasis may experience changes in their appetite, possibly due to chronic symptoms or medication side effects.

137
Q

describe systemic infection as a symptom of bronchiectasis

A

bronchiectasis can lead to recurrent lung infections that may affect the entire body, causing symptoms like fever and malaise

138
Q

list the investigations for clinical diagnosis of bronchiectasis

A

history/exam
sputum culture
chest x ray
LFT
CBE

139
Q

how is sputum culture used to dx bronchiectasis

A

Collecting a sample of respiratory secretions to identify the presence of bacteria, fungi, or other pathogens in the airways.

140
Q

how is CXR used to dx bronchiectasis

A

Using radiographic imaging to visualize the chest and assess for structural abnormalities or signs of bronchiectasis.

141
Q

how is LFT used to dx bronchiectasis

A

Measuring lung capacity and function to evaluate respiratory health and assess for any obstructive patterns indicative of bronchiectasis.

142
Q

how is CBE used to dx bronchiectasis

A

Analysing blood samples to check for signs of infection, inflammation, or anaemia, which can be associated with bronchiectasis.

143
Q

list the management for bronchiectasis

A

physical therapy
positive airway pressure
antibiotic therapy
pulmonary rehab
smoking cessation

144
Q

purpose pf physical therapy in managing bronchiectasis

A

airway clearance techniques to remove mucus and improve lung function in bronchiectasis.

145
Q

purpose of positive airway pressures in managing bronchiectasis

A

Application of continuous or bilevel air pressure to support breathing and alleviate airway obstruction.

146
Q

purpose of antibiotic therapy in managing bronchiectasis

A

Medications to treat and prevent bacterial lung infections associated with bronchiectasis

147
Q

purpose of pulmonary rehab in managing bronchiectasis

A

Comprehensive program involving exercise, education, and support to enhance respiratory function and quality of life in bronchiectasis patients.

148
Q

purpose of smoking cessation in managing bronchiectasis

A

The process of quitting smoking, a critical step in managing bronchiectasis to reduce lung irritation and complications.

149
Q

describe the epidemiology of cystic fibrosis

A

-3385 people living with cystic fibrosis
-median age of dx is 20.2 y/o
-mostly inherited by Caucasians
-autosomal recessive

150
Q

how many classifications for CF is there

A

six
I, II, III, IV, V, VI

APP NAS

151
Q

what is I cystic fibrosis

A

A

caused by a mutation that results in the absence of functional CFTR protein, leading to severe disease with minimal/no CFTR activity

152
Q

what is II cystic fibrosis

P

A

associated with mutations that results in defective CFTR protein processing and reduced function, causing moderate to sever symptoms

153
Q

what is III cystic fibrosis

P

A

involves mutations leading to partially functional; CFTR protein, resulting in variable and typically milder symptoms

154
Q

what is IV cystic fibrosis

N

A

characterised by mutations casing normal CFTR protein production, but with impaired function, resulting in mild or atypical CF symptoms

155
Q

what is V cystic fibrosis

A

A

involves mutations that affect CFTR regulation and unction, leading to mild or atypical CF symptoms

156
Q

what is VI cystic fibrosis

S

A

associated with mutations causing reduced CFTR protein stability, resulting in mild or atypical CF symptoms with residual CFTR function.

157
Q

how does dysfunctional CTFR effect the respiratory system

A

CFTR mutations result in the production of thick and sticky mucus in the airways, making it difficult to clear mucus. This leads to chronic airway obstruction, recurrent lung
infections, and progressive lung damage.

158
Q

how does dysfunctional CTFR effect the digestive system

A

In the digestive system, CFTR mutations affect the pancreas, reducing its ability to release enzymes necessary for digestion. This leads to malabsorption of nutrients,
malnutrition, and gastrointestinal issues.

159
Q

how does dysfunctional CTFR effect the glandular system

A

The CFTR protein plays a role in regulating salt and water balance in sweat glands. Mutations in CFTR lead to salty-tasting skin due to elevated salt levels in sweat, which is a diagnostic feature of cystic fibrosis.

160
Q

how does dysfunctional CTFR effect the reproductive system

A

CFTR mutations can cause infertility in both males and females due to issues with the production and transport of reproductive fluids.

161
Q

how does dysfunctional CTFR effect other systems

A

CFTR mutations can also affect the liver, leading to complications such as liver disease. Additionally, they can impact other organ systems to varying degrees, resulting in a wide range of symptoms and complications beyond the respiratory and digestive systems

162
Q

what is anticipation (genes)

A

-pt presents with more severe symptoms or appears at an earlier age in each successive generations.
-Example: Huntington’s disease (trinucleotide repeat expansion)

163
Q

what is incomplete penetrance

A

-Some individuals carry a gene mutation but do not show symptoms.
-Influenced by other genetic and environmental factors.

164
Q

what is variable expressivity

A

-Disease severity and clinical manifestations vary among individuals with the same mutation.
-Influenced by genetic modifiers and environmental factors.

165
Q

what are modifier genes

A

-Other genes can enhance or reduce the effects of the disease-causing mutation.
-Affect disease severity and presentation.

166
Q

what are multifactorial diseases

A

-Common diseases (e.g., heart disease, cancer) involve multiple gene variations and environmental factors.
-Leads to a wide range of disease presentations and complications in management.

167
Q

purpose of genotype testing in CF

A
  • Genotype testing identifies specific CFTR mutations, helping determine an individual’s genetic profile in cystic fibrosis.
  • Different CFTR mutations respond to different therapies, guiding the selection of mutation-specific medications like modulator therapies.
    -also helps inform treatment plans which includes optimising airways. nutritional support and antibiotic regimens
168
Q

list the therapies for CF

A

symptomatic therapy
CFTR modulator drugs
genetic therapies

169
Q

what is symptomatic therapy for CF

A

Treatment aimed at managing and alleviating the symptoms and complications of cystic fibrosis to improve quality of life.

170
Q

what are CFTR modulator drugs for CF

A

Medications designed to correct the function of the defective CFTR protein in cystic fibrosis patients, addressing the underlying genetic cause of the disease.

171
Q

what are genetic therapies for CF

A

Emerging treatment approaches that aim to correct or modify the genetic mutations responsible for cystic fibrosis to provide a potential cure or long-term
disease management.

172
Q

clinical presentation of CF

A

-Persistent cough with thick mucus
-Frequent lung infections (e.g., pneumonia, bronchitis)
-Wheezing or shortness of breath
-Salty-tasting skin
-Poor growth or weight gain despite good appetite
-Frequent greasy, bulky stools (malabsorption)
-Sinus infections or nasal polyps
-Infertility in males

173
Q
A

Medical Studies 1 (15 decks)

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