Final Review Flashcards
1
Q
Which of the following nail deformities is most associated with Psoriasis?
Clubbing
1
Koilonychia
2
Splinter Haemorrhage
3
Beau’s Lines
4
Nail Pitting
5
A
Which of the following nail deformities is most associated with Psoriasis?
Clubbing
1
Koilonychia
2
Splinter Haemorrhage
3
Beau’s Lines
4
Nail Pitting
5
2
Q
Dx? [1]
Tx - if non severe? [4] or severe? [2]
A
top: trophozoite infecting a reticulocyte
bottom: trophozoite infecting an RBC with Schuffner’s dots (eosinophilic) with preserved cell morphology
suggestive of plasmodium vivax - similar to ovale but without RBC shape change
treated with **oral artemeter + lumefantrine or quinine sulphate or doxycyline **
consider artesunate + quinine dihydrochloride IV if severe infection
3
Q
Dx
A
classic findings associated with plasmodium malariae which only affects senescent RBCs
4
Q
What is the most common primary immunodeficiency syndrome? [1]
A
Selective IgA deficiency
5
Q
A
6
Q
Defect in moving material into lysosomes X Giant granules = ?
A
7
Q
Defect in moving material into lysosomes x Giant granules = ?
A
Chediak-higashi syndrome
8
Q
For symptomatic classical CGD the mainstay of treatment is []
A
For symptomatic classical CGD the mainstay of treatment is definitive correction i.e. HSCT
9
Q
Name 3 x-linked dominant diseases [3]
A
retinitis pigmentosa
chrondrodysplasia
alport syndrome (type IV collagen gene defect)
10
Q
What is the definition of incidence?
A
Incidence = number of new cases (or deaths) of a disease per 100,000 people per year
11
Q
Describe the pathophysiology of Fragile-X syndrome
A
Fragile X syndrome is caused by a mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome.
The FMR1 gene codes for the fragile X mental retardation protein, which plays a role in cognitive development in the brain.
Long ears; thin face
12
Q
Describe the inheritence of Fragile-X mental retardation [1]
A
It is X-linked dominant
Males are always affected, but females can vary in how much they are affected.
This is because females have a spare normal copy of the FMR1 gene on their other X chromosome.
13
Q
Describe the features of Fragile X syndrome in males and females
A
Features in males
* learning difficulties
* large low set ears, long thin face, high arched palate
* macroorchidism
* hypotonia
* autism is more common
* mitral valve prolapse
Features in females (who have one fragile chromosome and one normal X chromosome)
* range from normal to mild
14
Q
What is the inheritence pattern of Hypophosphatamic rickets? [1]
A
Hereditary hypophosphataemic rickets.
- The most common form is x-linked dominant, however it also has other modes of inheritance.
- There is a rare form of rickets caused by genetic defects that result in low phosphate in the blood
15
Q
Describe the pathophysiology of X-linked dominant-Hypophosphatamic rickets [3]
A
- Suggested that the phosphate regulating endopeptidase X-linked (PHEX) enzyme regulates fibroblast growth factor 23 (FGF23).
- This protein normally inhibits the kidneys’ ability to reabsorb phosphate into the bloodstream.
- There is an increase of FGF23 in patients but no direct link yet between the proteins.
16
Q
Describe how APP and PSEN genes contribute to AD pathophysiology [2]
A
APP: when cleaved by B & Y secretases get ABP - accumulates to cause amyloid plaques in brain
PSEN [1&2] function as part of the complex the cleaves in the y site - so if have hyperfunction of PSEN then causes AD
17
Q
Name a gene that has been found to be a suppressor gene for AD [1]
A
BACE2
18
Q
Describe the features of:
* Trisomy 13 (Patau’s syndrome)
* Trisomy 18 (Edwards syndrome)
A
Trisomy 13 (Patau’s syndrome):
* Microcephalic, small eyes
* Cleft lip/palate
* Polydactyly
* Scalp lesions
Trisomy 18 (Edwards syndrome):
* Micrognathia
* Low-set ears
* Rocker bottom feet
* Overlapping of fingers
19
Q
47, XXY refers to which sex chromosome aneuploidy? [1]
Describe the features of this syndrome [+]
A
47, XXY: Klinefelter syndrome
* Taller height
* Wider hips
* Gynaecomastia
* Weaker muscles
* Small testicles
* Reduced libido
* Shyness
* Infertility
* Subtle learning difficulties (particularly affecting speech and language)
20
Q
Describe the pathophysiology of Rieger syndrome [1]
A
A deletion of REIG gene from chromosome 4
When gene gets moved to chromosome 12, becomes less active (and acts like a deletion)
Iris of the eye fails to develop - may lead to blindness later in life
- typically develop raised intra-ocular pressure and glaucoma
21
Q
What is the genetic and pathophysiological features of Tay-Sachs? [3]
A
Tay-Sachs disease is caused by mutations in the HEXA gene located on chromosome 15
- causes progressive damage to the nerve cells, particularly neurons in the brain, causing the characteristic neurological symptoms of the disease
- Tay-Sachs disease follows an autosomal recessive pattern of inheritance
- Symptoms of Tay-Sachs disease typically manifest in early infancy, usually around 3 to 6 months of age.
22
Q
What is the genetic and pathophysiological features of achondroplasia? [3]
A
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to:
* short limbs (rhizomelia) with shortened fingers (brachydactyly)
* large head with frontal bossing and narrow foramen magnum
* midface hypoplasia with a flattened nasal bridge
* ‘trident’ hands
* lumbar lordosis
In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.
23
Q
Retinitis pigmentosa primarily affects [] cells in the retina, particularly [], which are responsible for peripheral and night vision.
A
Retinitis pigmentosa primarily affects photoreceptor cells in the retina, particularly rods, which are responsible for peripheral and night vision.
24
Q
What are the features of Retinitis pigmentosa? [3]
A
Features
* night blindness is often the initial sign
* tunnel vision due to loss of the peripheral retina (occasionally referred to as funnel vision)
* fundoscopy: black bone spicule-shaped pigmentation in the peripheral retina, mottling of the retinal pigment epithelium
25
Describe the genetic and pathophysiology of PKU [4]
**Phenylketonuria** (PKU) is an **autosomal recessive condition** caused by a disorder of **phenylalanine** **metabolism**.
This is usually due to defect in **phenylalanine hydroxylase**, an enzyme which converts **phenylalanine to tyrosine**.
In a small number of cases the underlying defect is a **deficiency of the tetrahydrobiopterin-deficient cofactor**
The gene for phenylalanine hydroxylase is located on **chromosome 12**
26
How do patients of PKU present? [5]
The consequences of PKU include:
* usually presents by 6 months e.g. with developmental delay
* child classically has fair hair and blue eyes
* learning difficulties
* seizures, typically infantile spasms
* eczema
* 'musty' odour to urine and sweat
27
If you find S. aureus as a cause of UTI - what other pathology would you have a suspicion of? [1]
S. aureus isn't usual uropathogen - have suspicion for **endocarditis**
- *endocarditis -> renal abscess -> urine*
28
What are the general principles for CAP:
- Low severity [1]
- Moderate severity [2]
- High severity [3]
Low severity
- **single** **antibiotic**
Moderate severity:
- **amoxicillin & a macrolide** (azithromycin, clarithromycin, and erythromycin)
High severity
- **β-lactamase stable β-lactam** (e.g. co-amox) & **a macrolide**
29
A patient presents with CAP - under what conditions would you give pip-taz? [3]
If they have **pseudomonas** infection:
-**CF; bronchiectasis**
30
How do you differentiate between the symptoms of meningitis and encephaltiis?
**Meningitis**
- Symptoms of headache, neck stiffness & photophobia
**Encephalitis**:
- Symptoms associated with altered cerebral function (e..g Seizures, weakness, behaviour change, drop in GCS etc)
31
What are the implications of dinstinction betwen mengintis vs encephalitis with regards to treatment? [2]
Likely causes e.g. in UK **encephalitis viral** > **bacterial**
Treatment e.g. **viral** **meningitis** does **NOT** need treatment, **enceph** **DOES**
32
Under what conditions would you suspect Streptococcus gallolyticus causing infective endocarditis? [1]
Due to **GI malignancy**
33
What are the three most common causes of viral meningitis? [3]
**Enteroviruses** (e.g., coxsackievirus)
Herpes simplex virus (**HSV**)
Varicella zoster virus (**VZV**)
34
What does a non-blanching rash indicate with meningitis? [1]
Where there is **meningococcal septicaemia**, children can present with a non-blanching rash. Other causes of bacterial meningitis do not usually cause the non-blanching rash.
35
Typical antibiotics are to treat bacterial meningitis include
Under 3 months – **[]** plus **[]** ([] is to cover listeria)
Above 3 months – **[]**
PLUS
[]
Typical antibiotics are:
Under 3 months – **cefotaxime** plus **amoxicillin** (amoxicillin is to cover listeria)
Above 3 months – **ceftriaxone**
PLUS
**Steroids** (e.g., **dexamethasone**) are also used in bacterial meningitis to reduce the frequency and severity of hearing loss and neurological complications.
36
When treating bacterial meningitis - what drug should be given if suspect penicillin-resistant pneumococcal infection? [1]
**Vancomycin** should be added if there is a risk of penicillin-resistant pneumococcal infection (e.g., recent foreign travel or prolonged antibiotic exposure).
37
What is the protocal for pregnant patients if they are < 28 weeks and have a primary attack of HSV? [1]
elective caesarean section at term is advised if a primary attack of herpes occurs during pregnancy at greater than 28 weeks gestation
**Passmed**:
- elective caesarean section at term is advised if a primary attack of herpes occurs during pregnancy at greater than 28 weeks gestation
women with recurrent herpes who are pregnant should be treated with suppressive therapy and be advised that the risk of transmission to their baby is low
38
Primary genital herpes contracted before **[]** weeks gestation is treated with **[]** during the initial infection.
This is followed by regular prophylactic **[]** starting from **36 weeks gestation** onwards to reduce the risk of genital lesions during labour and delivery.
Primary genital herpes contracted before **28 weeks** gestation is treated with **aciclovir** during the initial infection.
This is followed by regular **prophylactic aciclovir** starting from **36 weeks gestation** onwards to reduce the risk of genital lesions during labour and delivery.
39
Recurrent genital herpes in pregnancy, where the woman is known to have genital herpes before the pregnancy, **carries a low risk of neonatal infection** (0-3%), **even if the lesions are present during delivery**.
Regular prophylactic **[]** is considered from **[]** weeks gestation to reduce the risk of symptoms at the time of delivery.
Recurrent genital herpes in pregnancy, where the woman is known to have genital herpes before the pregnancy, carries a low risk of neonatal infection (0-3%), even if the lesions are present during delivery.
**Regular prophylactic aciclovir** is considered from **36 weeks** gestation to reduce the risk of symptoms at the time of delivery.
40
# HSV
After an initial infection, the virus becomes latent in the associated **[]**.
Typically this is the **[]** with cold sores and the sacral nerve ganglia with genital herpes.
. After an initial infection, the virus becomes latent in the **associated sensory nerve ganglia.**
Typically this is the **trigeminal nerve ganglion** with cold sores and the sacral nerve ganglia with genital herpes.
41
What is the name for this complication of HSV? [1]
herpes keratitis
42
State 5 complications of VZV infection [5]
* A common complication is **secondary bacterial infection of the lesions**
* **pneumonia**
* **encephalitis** (cerebellar involvement may be seen)
* **disseminated haemorrhagic chickenpox**
* **arthritis**, **nephritis** and **pancreatitis** may very rarely be seen
43
# VZV infection
immunocompromised patients and newborns with peripartum exposure should **[]**.
If chickenpox develops then **[]** should be considered
immunocompromised patients and newborns with peripartum exposure should receive **varicella zoster immunoglobulin (VZIG)**.
If chickenpox develops then **IV aciclovir** should be considered
44
How does VZV specifically cause disease? [1]
**Inhibits viral DNA polymerase.**
45
Acylcvir toxicity can cause what syndrome? [1]
Describe it x
**Cotard syndrome.**:
- rare mental disorder in which the affected person holds the delusional belief that they are dead, do not exist, are putrefying, or have lost their blood or internal organs
46
What are three key manifestations of CMV in IC patients? [3]
**Retinitis**
**Pneumonitis**
**Oesphagitis**
47
How do you manage CMV:
- prophylactically
- pre-emptive therapy
**Prophylactically**:
- ARV use after **transplant to bridge period** with highest risk
**Pre-emptive therapy:**
- **monitor** CMV activity after transplant and **start ARV at first indication** of active CMV replication (because tx can suppress bone marrow - so you dont want to do this if not needed)
48
Describe how CMV retinitis presents [1]
Which patient population? [1]
common in **HIV patients** with a low CD4 count (< 50)
presents with visual impairment e.g. '**blurred vision**'. Fundoscopy shows retinal haemorrhages and necrosis, often called **'pizza' retina**
49
Describe the two main complications of EBV in IC patients [2]
**Post Transplant Lymphoproliferative Disorder (PTLD)**
* Usually first year post transplant
* 3- 10% of patients post SOT
* 40 – 60% mortality
**Lymphoma** - **NHL** in transplant patients, also common in HIV patients
50
What are the risk factors for **Post Transplant Lymphoproliferative Disorder (PTLD)** [5]
* **EBV seronegative prior to transplant** i.e. associated with primary infection
* **Children < 5 years**
* **Antirejection therapy**(OKT3 or ATG)
* **CMV seromismatch**
* **Type of transplant**
51
Which type of transplant is most likely to have **Post Transplant Lymphoproliferative Disorder (PTLD)** in EBV infection?
Heart/lung, lung, pancreatic-renal
Small bowel
Heart, liver
Renal, bone marrow
Which type of transplant is most likely to have **Post Transplant Lymphoproliferative Disorder (PTLD)** in EBV infection?
Heart/lung, lung, pancreatic-renal
**Small bowel**
Heart, liver
Renal, bone marrow
52
Describe the symptoms of PTLD EBV [5]
* Unexplained fever
* GI upset
* Lymphadenopathy - retroperitnoneal
* Tonsillar hypertrophy
* IM
* Hepatic /splenic enlargement
* Anaemia/pancytopenia
* Graft dysfunction
53
What is a main stay treatment for PTLD? [1]
**Rituximab**
54
How does adenovirus present in healthy people [3] and IC people [6]
**Healthy people:**
* Respiratory disease (usually mild and self-limiting)
* Keratoconjunctivitis
* Gastroenteritis
**Immunosuppressed**:
* pneumonia
* hepatitis
* haemorrhagic cystitis
* enterocolitis
* encephalitis
* disseminated infection
55
State the risk factors for adenovirus disease in transplant patients [4]
**Children** >> adults;
**severe GVHD**
**cord blood transplant**,
**alemtuzumab** conditioning;
**liver, heart, multivisceral** **SOT**
56
How do you detect adenovirus in immunosuppressed? [2]
What should you do if test postive in ^? [1]
Screening via **blood** & **urine PCR**
If positive - test at **other sites including resp & stool**
57
How do you treat adenovirus in IC? [1]
**Brincidofovir** (or reduce level of immunosuppression)
58
Name two polyomaviruses that are cirtical in IC [2]
**JC virus and BK virus**
59
Describe life cycle of JC virus and BK virus [2]
**Initial** **viraemia** and **seeding** of **kidney** --> **latency**
**Reactivation**: **viruria** --> **viraemia** --> **end-organ disease**
60
Describe the three main syndromes with of JC and BK viruses [3]
**BK virus-associated haemorrhagic cystitis** (usually allogeneic HSCT recipients)
**BK virus-associated nephropathy** (BVAN, renal transplant recipients)
**JC-PML**
61
How do you detect COVID-19? [1]
Detection of viral RNA viral by **PCR**
**Nasopharyngeal swab**
62
How do you treat COVID (in normal patients):
- Moderate infection [1]
- Severe infection [3]
Mild-mod: **conservative**
Hospital: **dexamethasone + remdesivir**
(nucleotide analogue), **CPAP**
63
What calculation do you use when you're investigating the liklihood of developing a chronic disease between two groups? [1]
Relative risk
64
Vancomycin-Resistant Enterococci (VRE) - what can you use instead [1]
first line – glycopeptides, such as vancomycin (but not for VRE or vancomycin-resistant S. aureus [VRSA]) or **teicoplanin**, which are narrow-spectrum agents, only available IV that cannot penetrate the blood–brain barrier as they are large molecules; vancomycin is nephrotoxic so levels need to be measured
for VRE – treat with **oxazolidinone** (eg. linezolid, which has excellent penetration into skin and brain; however, it can cause bone marrow suppression, peripheral neuropathy and optic neuritis)
other options: daptomycin, tigecycline
65
Describe the relation between HLAs and HIV
- What does HIV bind to? [3]
- HIV binds to CD4 and CCR5 of CXCR4
- Long term non-progressors: suppress viral loads to undetectable levels with elevated CD4 T cell counts in the abscence of ART
- The two main HLA molecules: HLA-B27*05 or HLAB57*01 cause this adapted response
66
Which HLA is associated with ankylosing spond? [1]
HLA-B27
67
Describe the direct pathway to alloantigen presentation in transplantation
- Donor APCs migrate from graft to secondary lymphoid organs in host.
- Present MHC to recipient T cells which become activated
- They go back to the graft and cause damage ):
68
Describe the indirect pathway for alloantigen presentation in tranplantation
- Recipient APCs go to graft, phagocytose a donor peptide and put on MHC
- Activate T cells in secondary lymphoid organs
69
Describe the semi-direct mechanism for alloantigen presentation in transplant
Recipient APCs present intact donor MHC to recipient T cells
70
Describe why an acute rejection of a graft occurs [2]
2-3 weeks after
Driven by **direct pathway of allorecognition** - alloreactive T cells infiltrate graft and cause tissue death
Causes **parenchymal cell damage & interstitial inflammation**
71
Describe the process of chronic graft rejection [1]
Driven by **indirect pathway** of allorecognition - alloreactive T cells and antibodies infiltrate graft - occlusion of blood vessels and fibrosis
72
Which drug can be used to treat GvHD? [1]
**Belumosudil**
73
Describe what is meant by Graft-versus Leukemia
Decreases relapse rate of leukemia after allogenoic bone marrow transplant
Donor marrow recognises antigens on the leukemic blast cells as non-self
74
Describe the inheritence of DMD [1]
What is important to know about aetiology of DMD? [1]
DMD: **X-linked recessive conditions** (get from mother)
**De novo mutations** make **30%** of **incidence**
75
Describe why girls are carriers of DMD but boys are not [1]
If a mother is a carrier, what is the % of her daughter being a carrier [1] and son being affected? [1]
Boys have a **single X-chromosome** and **girls have two**, girls have a **spare copy of the dystrophin gene.**
50% daughter will be carrier
50% son will be affected
76
When perfoming a clinical exam of a person with muscular dystrophy (like DMD), what would you particularly look out for? [6]
**Gower’s sign**
- the child climbs up their legs when rising from the floor
**Weakness:**
- typically the **proximal and distal leg muscle**s in the earlier phases of the disease.
**Calf pseudohypertrophy:**
- due to the accumulation of connective tissue and fat replacing muscle tissue.
**Waddling gait**:
- typically exacerbated when attempting to run.
**Tip-toe walking**
- occurs due to shortening of the Achilles tendon.
**Loss of the arches** of the feet (i.e. flat feet)
**Difficulty or inability to squat**
77
**TOM TIP: [] sign** is a favourite in exams.
If there is a 5 year old boy presenting with vague symptoms of muscle weakness and the description is that you notice them **[]** to stand up, the answer is probably **Duchennes muscular dystrophy**.
They may ask “what is the underlying genetic inheritance of the most likely cause?” The answer is **[]**
TOM TIP: **Gower’s sign** is a favourite in exams.
If there is a 5 year old boy presenting with vague symptoms of muscle weakness and the description is that you notice t**hem using their hands on their legs to help them stand up**, the answer is probably **Duchennes muscular dystrophy**. They may ask “what is the underlying genetic inheritance of the most likely cause?” The answer is **X-linked recessive.**
78
Describe the pathophysiological differences between Duchenne and Becker's MD [1]
**Duchenne muscular dystrophy**
- there is a **frameshift mutation** resulting in **one** or **both** of the **binding sites** are **lost** leading to a severe form
**Becker muscular dystrophy**
- there is a **non**-**frameshift** **insertion** in the dystrophin gene resulting in **both binding sites being preserved** leading to a **milder form**
79
Name three important clinical complications of DMD [3]
**Cardiac**
* **dilated cardiomyopathy**
* annual echocardiograms should be undertaken in all patients
**Respiratory**
* **respiratory failure** secondary to muscular weakness
**Complications can be seen secondary to longterm corticosteroid use:**
* **osteoporosis**
* **impaired glucose tolerance**
* **obesity**
* **Addisonian crisis** triggered by suddenly stopping steroids or intercurrent illness
80
**TOM TIP:** Cystic fibrosis is a common exam topic and is a favourite of examiners for testing your knowledge of genetic inheritance.
Remember that cystic fibrosis is **[] inheritence.**
A popular scenario is: both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, **what is the likelihood of the second child being a carrier? [1]**
**cystic fibrosis is autosomal recessive.**
We know the child doesn’t have the condition, so the **answer is two in three.**
81
Describe the sweat test used to diagnose CF [3]
* A patch of skin is chosen for the test, typically on the arm or leg.
* **Pilocarpine** is applied to the skin on this patch.
* **Electrodes** are placed either side of the patch and a **small current is passed between the electrodes**
* This **causes the skin to sweat.**
* The **sweat** is **absorbed** with **lab issued gauze or filter paper** and sent to the lab for **testing** for the **chloride concentration**.
* The **diagnostic** **chloride** **concentration** for cystic fibrosis is **more than 60mmol/l.**
82
Which are they key microbrial colonisers of patients with CF? [2]
What treatment do you give as long term prophylaxis?
**TOM TIP:** The key colonisers to remember for your exams are **staph aureus and pseudomonas**.
Patients with cystic fibrosis take **long term prophylactic** **flucloxacillin** to prevent **staph aureus infection.**
Pseudomonas should be remembered as a particularly troublesome coloniser that is hard to treat and worsens the prognosis of patients with cystic fibrosis.
83
Describe the acid-base change that can occur in CF [1]
**metabolic alkalosis**:
- Excessive sodium chloride loss in sweat
84
How do you treat Pseudomonas in CF? [2]
Pseudomonas colonisation can be treated with long term **nebulised antibiotics such as tobramycin**
**Oral ciprofloxacin** is also used.
85
Describe the management of CF [7]
**Airway clearance techniques**
**Mucoactive agents**
- **rhDNase (dornase alfa; recombinant human deoxyribonuclease):** advised as the first-line option by NICE. Given via a nebuliser it cleaves extracellular deoxyribonucleic acid and helps **reduce viscosity and promote sputum clearance.**
- **Hypertonic sodium chloride**: may be used alone or with rhDNase in those with inadequate response. Given via a **nebuliser**, it has osmotic action that **hydrates airway secretions and promotes their clearance.**
- **Mannitol dry powder for inhalation**: used in patients intolerant, ineligible or not responding to rhDNase and have rapidly declining lung function and where other osmotic agents are not appropriate. Inhaled via a handheld device, it has **osmotic action causing water to enter the airways, hydrating secretions and making clearance easier**.
**Bronchodilators**:
- **Inhaled β2-agonists and anticholinergic**s help relax airway smooth muscle, improving airflow and lung function.
**Anti-inflammatories:**
- **Inhaled corticosteroids and oral nonsteroidal anti-inflammatory drugs (e.g., ibuprofen)** help reduce airway inflammation and improve lung function.
**Antibiotics**:
- **Regular use of inhaled antibiotics** (e.g., **tobramycin**, **aztreonam**) helps manage chronic infections, particularly with Pseudomonas aeruginosa. Systemic antibiotics may be required for acute exacerbations.
**CFTR modulators:**
- Small molecule drugs like **ivacaftor, lumacaftor, and elexacaftor** target specific CFTR mutations, **improving** **protein function** and clinical outcomes. Selection depends on the patient's specific CFTR genotype.
86
Patients with CF are at increased risk of which malignancies? [3]
Patients with CF are at increased risk of gastrointestinal malignancies - **including the large and small bowel, pancreas and biliary tract**. Those with **cirrhosis** are at risk of **hepatocellular carcinoma.**
87
**Diabetes mellitus**
88
**Autosomal recessive**
89
**Nasal polyps**
90
**Chromosome 7**
91
**Rectal prolapse**
92
93
How do aminoglycosides spefiically work? [1]
Inhibition of 30S ribosomal subunit
94
What are key adverse effects of aminoglycoside (e.g. amakacin) use? [3]
**Otoxicity**
**Nephrotoxicity**
**Contraindicated** in **pregnancy**
95
What are 4 key adverse effect of fluoroquinolones (e.g. flucoxacillin)? [4]
- **Tendon rupture**
- **Children**
- **Reduces seizure threshold**
- **Prolongs QT intervals**
- **Photosensitivity**
- Bad for pregnant
96
Is benzyl penicllin broadly gram +ve or -ve? [1]
**Gram negative**
97
Name two anti-biotics that have the greatest spectrum in coverage
Meropenum/Imipenem
Piperacillin-Tazobactam
Cefrtiaxone
Cefuroxime
98
Name two antibiotics that work purely as gram positive coverage [2]
Vancomycin/Teicoplanin
Flucloxacillin
Benzyl Penicllin
99
Describe co-amoxiclav's coverage [1]
Mostly gram+ve, with a bit of gram -ve
100
Metronidazole is particularly good at covering which type of microbes? [1]
**Anaerobes**
101
How do you differeniate between food poisoining from Staph. aureus vs Salmonella enterica? [1]
**Salmonella** **enterica** has an intubation period of **12 hours to three days**
**Staphylococcus** **aureus** gastroenteritis is associated with a** rapid onset (often only several hours)**
102
Describe the treatment regime for Group A strep sore throat [3]
1. **Phenoxymethylpenicillin** 500mg TDS
2. **Erythromycin** 500mg QDS
103
Which contanimated food substances are associated with gastroenteritis from 1. Campylobacter jejuni, 2. Staphylococcus aureus and 3. Bacillus cereus
Describe what the effect might be on a patient with regards to symptoms for each?
Campylobacter jejuni:
- **chicken**
- **bloody & mucus diarrhoea**
Staph aureus:
- **milk products or hand-prepared foods such as sandwiches, puddings, pastries and sliced meats**
- **vomiting and non-bloody diarrhoea**
Bacillus cereus:
- **reheated rice**
- **vomiting**
104
What is the treatment for Eron class I cellulitis [1]
What is the second line or if they are CI to ^?[2]
oral **flucloxacillin** as first-line treatment for mild/moderate cellulitis
**oral clarithromycin, erythromycin (in pregnancy) or doxycycline** is recommended in patients allergic to penicillin
| flucloxaci**ll**in ce**ll**ulitis
105
Management is guided by the Eron classification for cellulitis.
What is the treatment for Eron Class III-IV cellulitis? [3]
NICE recommend: oral/IV co-amoxiclav, oral/IV clindamycin, IV cefuroxime or IV ceftriaxone
106
What is the best test for active [1] or latent [1] TB?
Active: **sputum smear**
Latent: **IFGA**
107
What treatment do you give for meningitis for:
- the patient [1]
- prophylaxis for contacts [1]
Patient: **IM benyzlpenicillin**
Contacts: **oral ciprofloxacin**
108
Describe the pathophysiology of common variable immune deficiency; how does it present on a investigation? [1]
How do patients commonly present? [3]
**Dysregulation of B cells** means that get:
- exhibit low levels of **IgG, IgA, and often IgM.**
Patients are at risk of developing:
- **Infections**
- **Autoimmune** **disorders** (e.g. ITP or AIHA)
- **Malignancies**
109
Which of the following is typical of a Th1 response?
histamine
interferon gamma
interleukin 4
interleukin 5
interleukin 13
Which of the following is typical of a Th1 response?
histamine
**interferon gamma**
interleukin 4
interleukin 5
interleukin 13
110
Which of these is an X-linked recessive single gene disorder?
cystic fibrosis
Duchenne muscular dystrophy
Huntingdon disease schizophrenia
type 2 diabetes mellitus
Which of these is an X-linked recessive single gene disorder?
cystic fibrosis
**Duchenne muscular dystrophy**
Huntingdon disease schizophrenia
type 2 diabetes mellitus
111
You treat a 20 year old who came in to the GP with vague infective symptoms.
The next day she comes back and presents with this rash.
Investigations reveal she has EBV.
Which abx was initially given?
Metronidazole
Flucoxacillin
Rifampicin
Fluroquinolone
Amoxicillin
You treat a 20 year old who came in to the GP with vague infective symptoms.
The next day she comes back and presents with this rash.
Investigations reveal she has EBV.
Which abx was initially given?
**Amoxicillin**
- causes a reaction with EBV infection
112
Ciprofloxacin works by which interfering with which part of the bacteria
B-lactam
DNA gyrase
50S subunit
30S subunit
Cell membrane
Ciprofloxacin works by which interfering with which part of the bacteria
B-lactam
**DNA gyrase**
50S subunit
30S subunit
Cell membrane
113
A patient is treated with an antibiotic that subsequently causes tendon rupture
What was the MoA of this antibiotic?
RNA polymerase inhibitor
DNA gyrase inhibitor
50S subunit inhibitor
30S subunit inhibitor
Cell membrane inhibitor
A patient is treated with an antibiotic that subsequently causes tendon rupture
What was the MoA of this antibiotic?
RNA polymerase inhibitor
**DNA gyrase inhibitor**
50S subunit inhibitor
30S subunit inhibitor
Cell membrane inhibitor
| Quinolones - inhibit DNA gyrase; cause tendon rupture
114
*Normal levels of B cells, low levels of antibodies*
Which primary immunodeficiency disorder? [1]
**CVID**
115
Common variable immunodeficiency is an immunodeficiency disorder characterized by very low antibody (immunoglobulin) levels despite a normal number of B cells (the type of white blood cell that makes antibodies).
**Which lung pathology do they typically develop? [1]**
People with CVID who have frequent lung infections can develop **bronchiectasis**
116
**[]** is a congenital immunodeficiency disorder in which the thymus gland is absent or underdeveloped at birth, causing problems with T cells, a type of white blood cell that helps identify and destroy foreign or abnormal cells. Other birth defects also are present.
**What is typical presentation? [3]**
**DiGeorge syndrome** is a congenital immunodeficiency disorder in which the thymus gland is absent or underdeveloped at birth, causing problems with T cells, a type of white blood cell that helps identify and destroy foreign or abnormal cells. Other birth defects also are present.
The classical presentation is a triad of **cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia)**
- Often have spasms within 48hrs due to hypocalcaemia
117
**[]** disorder resulting in low levels of antibodies (immunoglobulins) and low or no T cells (lymphocytes).
**Severe combined immunodeficiency is a primary immunodeficiency disorder** resulting in low levels of antibodies (immunoglobulins) and low or no T cells (lymphocytes).
118
# Primary immunodeficiency disorders
*Bloody diarrhea, may be the first symptom. Eczema also develops at an early age.*
**Wiskott-Aldrich Syndrome**
119
**[]** syndrome is a very rare hereditary immunodeficiency disorder characterized by **recurrent bacterial respiratory and other infections and lack of pigment in the hair, eyes, and skin (albinism).**
**Chédiak-Higashi**
120
Which primary immunodeficiency disorder can you test with nitroblue tetrazolium? [1]
What would indicate that this disorder is occurring? [1]
**chronic granulamatous disorder**
121
Which of the following is a hallmark feature of Chédiak-Higashi Syndrome?
A) Hyperpigmentation of the skin
B) Giant lysosomal granules in leukocytes
C) Increased resistance to bacterial infections
D) Elevated serum IgE levels
E) Thrombocytosis
Which of the following is a hallmark feature of Chédiak-Higashi Syndrome?
A) Hyperpigmentation of the skin
**B) Giant lysosomal granules in leukocytes**
C) Increased resistance to bacterial infections
D) Elevated serum IgE levels
E) Thrombocytosis
122
Which enzyme deficiency is associated with Chronic Granulomatous Disease (CGD)?
A) Myeloperoxidase
B) Superoxide dismutase
C) Catalase
D) NADPH oxidase
E) Glutathione peroxidase
Which enzyme deficiency is associated with Chronic Granulomatous Disease (CGD)?
A) Myeloperoxidase
B) Superoxide dismutase
C) Catalase
**D) NADPH oxidase**
E) Glutathione peroxidase
123
Which diagnostic test is primarily used to confirm Chronic Granulomatous Disease (CGD)?
A) Serum electrophoresis
B) Flow cytometry for dihydrorhodamine (DHR) oxidation
C) Western blotting for LYST protein
D) Serum immunoglobulin levels
E) Skin biopsy
Which diagnostic test is primarily used to confirm Chronic Granulomatous Disease (CGD)?
A) Serum electrophoresis
**B) Flow cytometry for dihydrorhodamine (DHR) oxidation**
C) Western blotting for LYST protein
D) Serum immunoglobulin levels
E) Skin biopsy
124
Which immunoglobulin is typically low in patients with Common Variable Immunodeficiency (CVID)?
A) IgA
B) IgD
C) IgE
D) IgG
E) IgM
Which immunoglobulin is typically low in patients with Common Variable Immunodeficiency (CVID)?
A) IgA
B) IgD
C) IgE
**D) IgG**
E) IgM
125
A 3-year-old boy presents with recurrent bacterial infections, partial albinism, and peripheral neuropathy. A peripheral blood smear shows giant granules in granulocytes. What is the most likely diagnosis?
A) Chronic Granulomatous Disease
B) Chédiak-Higashi Syndrome
C) Common Variable Immunodeficiency
D) Wiskott-Aldrich Syndrome
E) DiGeorge Syndrome
A 3-year-old boy presents with recurrent bacterial infections, partial albinism, and peripheral neuropathy. A peripheral blood smear shows giant granules in granulocytes. What is the most likely diagnosis?
A) Chronic Granulomatous Disease
**B) Chédiak-Higashi Syndrome**
C) Common Variable Immunodeficiency
D) Wiskott-Aldrich Syndrome
E) DiGeorge Syndrome
126
A 4-year-old boy has a history of recurrent infections with catalase-positive organisms, such as Staphylococcus aureus and Serratia marcescens. The dihydrorhodamine (DHR) test confirms a deficiency in NADPH oxidase. What is the most likely diagnosis?
A) Leukocyte Adhesion Deficiency
B) Chronic Granulomatous Disease
C) Severe Combined Immunodeficiency
D) X-Linked Agammaglobulinemia
E) Wiskott-Aldrich Syndrome
A 4-year-old boy has a history of recurrent infections with catalase-positive organisms, such as Staphylococcus aureus and Serratia marcescens. The dihydrorhodamine (DHR) test confirms a deficiency in NADPH oxidase. What is the most likely diagnosis?
A) Leukocyte Adhesion Deficiency
**B) Chronic Granulomatous Disease**
C) Severe Combined Immunodeficiency
D) X-Linked Agammaglobulinemia
E) Wiskott-Aldrich Syndrome
127
A 25-year-old woman presents with a history of recurrent sinusitis and pneumonia. Laboratory tests show low levels of IgG, IgA, and IgM. What is the most likely diagnosis?
A) Severe Combined Immunodeficiency
B) X-Linked Agammaglobulinemia
C) Common Variable Immunodeficiency
D) DiGeorge Syndrome
E) Wiskott-Aldrich Syndrome
A 25-year-old woman presents with a history of recurrent sinusitis and pneumonia. Laboratory tests show low levels of IgG, IgA, and IgM. What is the most likely diagnosis?
A) Severe Combined Immunodeficiency
B) X-Linked Agammaglobulinemia
**C) Common Variable Immunodeficiency**
D) DiGeorge Syndrome
E) Wiskott-Aldrich Syndrome
128
A 2-year-old child presents with recurrent viral infections, a history of congenital heart defects, and characteristic facial features including a small jaw and low-set ears. Which syndrome is most likely?
A) Common Variable Immunodeficiency
B) Severe Combined Immunodeficiency
C) Wiskott-Aldrich Syndrome
D) DiGeorge Syndrome
E) X-Linked Agammaglobulinemia
A 2-year-old child presents with recurrent viral infections, a history of congenital heart defects, and characteristic facial features including a small jaw and low-set ears. Which syndrome is most likely?
A) Common Variable Immunodeficiency
B) Severe Combined Immunodeficiency
C) Wiskott-Aldrich Syndrome
**D) DiGeorge Syndrome**
E) X-Linked Agammaglobulinemia
129
An infant presents with recurrent bacterial infections, delayed umbilical cord separation, and a lack of pus formation at infection sites. Flow cytometry reveals low CD18 expression. What is the most likely diagnosis?
A) Severe Combined Immunodeficiency
B) Chronic Granulomatous Disease
C) Leukocyte Adhesion Deficiency
D) Chédiak-Higashi Syndrome
E) Wiskott-Aldrich Syndrome
An infant presents with recurrent bacterial infections, delayed umbilical cord separation, and a lack of pus formation at infection sites. Flow cytometry reveals low CD18 expression. What is the most likely diagnosis?
A) Severe Combined Immunodeficiency
B) Chronic Granulomatous Disease
**C) Leukocyte Adhesion Deficiency**
D) Chédiak-Higashi Syndrome
E) Wiskott-Aldrich Syndrome
130
A patient with Leukocyte Adhesion Deficiency is evaluated. Which of the following is a characteristic finding in this disease?
A) Recurrent fungal infections
B) Impaired pus formation
C) Severe eczema
D) Elevated IgE levels
E) Hemolytic anemia
A patient with Leukocyte Adhesion Deficiency is evaluated. Which of the following is a characteristic finding in this disease?
A) Recurrent fungal infections
**B) Impaired pus formation**
C) Severe eczema
D) Elevated IgE levels
E) Hemolytic anemia
131
A 6-month-old infant presents with persistent diarrhea, failure to thrive, and recurrent severe infections. Both T and B lymphocyte functions are deficient. What is the most likely diagnosis?
A) Severe Combined Immunodeficiency
B) X-Linked Agammaglobulinemia
C) Common Variable Immunodeficiency
D) Chédiak-Higashi Syndrome
E) Wiskott-Aldrich Syndrome
A 6-month-old infant presents with persistent diarrhea, failure to thrive, and recurrent severe infections. Both T and B lymphocyte functions are deficient. What is the most likely diagnosis?
**A) Severe Combined Immunodeficiency**
B) X-Linked Agammaglobulinemia
C) Common Variable Immunodeficiency
D) Chédiak-Higashi Syndrome
E) Wiskott-Aldrich Syndrome
132
A 2-year-old boy with eczema, recurrent ear infections, and a low platelet count is evaluated. Genetic testing reveals an X-linked recessive mutation. What is the most likely diagnosis?
A) DiGeorge Syndrome
B) Chédiak-Higashi Syndrome
C) Wiskott-Aldrich Syndrome
D) Chronic Granulomatous Disease
E) Common Variable Immunodeficiency
A 2-year-old boy with eczema, recurrent ear infections, and a low platelet count is evaluated. Genetic testing reveals an X-linked recessive mutation. What is the most likely diagnosis?
A) DiGeorge Syndrome
B) Chédiak-Higashi Syndrome
**C) Wiskott-Aldrich Syndrome**
D) Chronic Granulomatous Disease
E) Common Variable Immunodeficiency
133
Which of the following is part of the classic triad of Wiskott-Aldrich Syndrome?
A) Thrombocytopenia, eczema, recurrent infections
B) Hyperpigmentation, peripheral neuropathy, recurrent infections
C) Hemolytic anemia, hepatosplenomegaly, lymphadenopathy
D) Hypopigmentation, recurrent infections, hepatosplenomegaly
E) Severe eczema, elevated IgE, recurrent fungal infections
Which of the following is part of the classic triad of Wiskott-Aldrich Syndrome?
**A) Thrombocytopenia, eczema, recurrent infections**
B) Hyperpigmentation, peripheral neuropathy, recurrent infections
C) Hemolytic anemia, hepatosplenomegaly, lymphadenopathy
D) Hypopigmentation, recurrent infections, hepatosplenomegaly
E) Severe eczema, elevated IgE, recurrent fungal infections
134
135
Which type of pathogens are patients with **Chronic Granulomatous Disease** most susceptible to? [1] Why? [1]
How do they typically present? [1]
loss of neutrophil granule burst = less protected vs. bacteria/fungi
* Especially vs. **catalase +ve (staphylococcus)**
* **Presents with severe infection** (osteomyelitis, abscess, sepsis) **before age 5**
| *
## Footnote
* Presents with severe infection (osteomyelitis, abscess, sepsis) before age 5
136
Describe the pathophysiology of Chediek Higashi [1]
How do they typically present? [3]
**Dysfunctional phagocytosis + NK/CD8 function (lysosome problem)**
* Presents with **partial albinism + peripheral neuropathy + pancytopaenia**
137
Describe the pathophysiology of Wiskott-Aldrich [1]
How do they typically present? [3]
**defective antigen presentation + risk of autoimmunity/lymphoma**
- * WATER – Wiskott Aldrich = **thrombocytopaenia, eczema, recurrent pyogenic infection**
138
o 1st line anti-emetic for **intracranial** causes of **nausea and vomiting**? [1]
**Cyclizine**
- Histamine h1 receptor antagonist
139
How do you calculate break through analgesia for morphine? [1]
What do you to step up treatment? [1]
Breakthrough analgesia administered at **1/6th of the total daily opioid dose.**
If pain not controlled – **increased dose by 30-50%**
140
Codeine to morphine = divide dose by **[]**
**Codeine to morphine = divide dose by 10**
141
Can usually stop drugs immediately but these ones need to be tapered off - why?
▪ **BZDs** [2]
▪ **Corticosteroids** [1]
▪ **Opioids** [1]
▪ **BZDs** – agitation, insomnia
▪ **Corticosteroids** – adrenal insufficiency (Addison-like)
▪ **Opioids** – flu like withdrawal sx
142
Describe what zero order kinetics means [1]
Zero order kinetics describes metabolism which is
independent of the conc of the reactant.
143
Describe what first order kinetics means [1]
First order kinetics is a phenomenon which is when the conc of a drug greatly reduces before it
reaches systemic circulation due to hepatic metabolism
144
Calculate how much glucose in 5% 500ml [1]
5% solution contains 5g per 100 ml → 5x5 → 25g of glucose
145
Calculate how much lidocaine in 0.5% v/w 10ml injection
▪ 0.5 % w/v is 0.5g per 100ml → 0.5/10 → 0.05 g or 50 mg
146
E.g. 65kg man prescribed 9.75g of acetylcysteine as IV infusion over an hour (available as 200
mg/ml ampules).
What volume is required? [1]
* Prescribed dose = 9750mg, vol of solution = 1ml, amount of drug in solution =
200mg
* (9750 * 1) / 200 = 48,75ml required
147
E.g. 40kg girl prescribed 800mg phenobarbital as IV based on initial 20mg/kg dose (available
as 60 mg/ml ampules)
What volume is required? [1]
(800 * 1) / 60 = 13.3ml required
148
Ptx presents after starting an Abx.
They complain their teeth have been stained after initiating the treatment.
What is the most likely class of Abx used? [1]
**Tetracyclines**
149
Mechanism of resistance for streptomycin:
* Altered target
* Efflux pump
* Alternative target
* Modify/breakdown abx
Mechanism of resistance for streptomycin:
* **Altered target** - 30s rb
* Efflux pump
* Alternative target
* Modify/breakdown abx
150
oseltamivir works by what MoA? [1]
**Neuraminidase inhibitors**
- Block release – NI = **no sialic acid cleavage**
151
MoA of interferon [1] and ribavirin [1]
**Interferon** – block viral protein synthesis
**Ribavirin** – guanosine analogue
152
What medication do you give to treat typhoid?
Ciprofloxacin
Doxycycline
NSAIDs
praziquantel
Artesunate
What medication do you give to treat typhoid?
**Ciprofloxacin**
Doxycycline
NSAIDs
praziquantel
Artesunate
153
How do you manage Leptospira interrogans? [1]
high-dose **benzylpenicillin** or **doxycycline**
154
How does a patient with Leptospirosis present? [3]
**Jaundice, conjunctival suffusion,
hepatorenal impairment**
155
What are the typical features of Brucellosis infection? [3]
**Fever, weight loss, night sweats,
lymphadenopathy**
Important cause of PUO
156
What is the mangaement of brucellosis? [3]
**doxy, rifampicin,
gent**
157
How do you treat amoebic liver abscess? [2]
**Oral metronidazole +
diloxanide furoate**
158
How do you treat diptheria? [2]
**IM penicillin +
diphtheria antitoxin**
159
**chloroquine**
160
every 48hrs
161
**most common type of non-falciparum malaria**
162
What centor score do you give medication? [1]
What do you give? [1]
3 or 4 requires treatment as it indicates **Group A streptococcal pharyngitis**
Give **oral phenoxymethylpenicillin**
163
a patient suffering from a **pseudomonas urinary infection** should be treated with which drug? [1]
**Gentamicin**
Aminoglycosides are the agents of choice for pseudomonal urinary tract infections.
164
What are the incubation for common infections?
**< 1 week**:
**1–2 weeks:**
**2–3 weeks**:
**>3 weeks:**
< 1 week: Meningococcus, Diphtheria, influenza, coronavirus, scarlet fever
1–2 weeks: malaria, dengue fever, typhoid, measles
2–3 weeks: mumps, rubella, chickenpox
>3 weeks: infectious mononucleosis, cytomegalovirus (CMV), viral hepatitis, HIV
165
**[]** and **[]** are examples of Enterobacteriaceae, a normal part of the human gut bacteria, that can become **carbapenem-resistant**.
**Klebsiella** **species** and **Escherichia** **coli** (E. coli) are examples of Enterobacteriaceae, a normal part of the human gut bacteria, that can become carbapenem-resistant.
