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Paediatrics > TAS > Flashcards

TAS Flashcards

1
Q

Kid goes travelling in Africa / Asia presents with pancytopenia and splenomegaly
What is the organism?

A

 leishmania donovani

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2
Q

Kid goes travelling in Europe presents with pancytopenia and splenomegaly, what is the causative organism?

A

Leishmania infantum

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3
Q

What is the most common organism in dog bite?

A

Pasturella Spp

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4
Q

What are the causes of Dyspnoea at end of life ?

A

1) Pain
2) Superior vena cava obstruction
3) Pulmonary Oedema
4) Chest infection
5) Tumours obstructing the airway obstruction/lung volume reduction

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5
Q

Diagnostic Criteria for SLE ? [4/11]

A

1) Malar Rash “butterfly” [80%]
2) Discoid Lupus
3) Photosensitivity
4) Oral/Nasopharyngeal Ulcers
5) Non-erosive arthritis - 2 > joints
6) Pleuritis
7) Carditis
8) Renal involvement
- persistent proteinuria
- cellular cast
9) Neurological disorders:
- Seizures
- Psychosis)
10) Haematological disorders:
- haemolytic anaemia
- leukopenia
- lymphopaenia
- thrombocytopenia
11) Immunological disorders:
- Anti-DNA [75%]
- Anti-nuclear [ANA, 95%]
- Anti-Sm
- Anti-Ro
- Anti-phospholipid [APA]

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6
Q

SLE Management:

A

1) NSAIDs - symptomatic control
2) Hydroxychloroquine

Moderate - Severe:

3) IV-Methylprednisolone
4) Immuno-supressive therapy
- Azathioprine
- Cyclophosphamide
- Mycophenolate Mofetil [MMF]
5) Biologics:
- Belimumab
- Rituximab

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7
Q

At what age is presentation for Pyloric Stenosis most common?

A

< 3months [4-6wks]

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8
Q

How common is Pyloric Stenosis?

A

2-5 in 1000 Live Births

Boys > Girls [4:1]

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9
Q

What investigations are necessary to diagnose Pyloric Stenosis?

A

1) Blood Gas: Metabolic Alkalosis
- hypokalaemic
- hypochloraemic

2) Bloods: FBC, U&E, Clotting + G&S

3) USS - Thickened Pyloris > 4mm
- Muscle Length > 14mm

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10
Q

What is the management for Pyloric Stenosis?

A

1) ABCDE approach
2) IV-access: fluids dehydration / electrolyte correction
3) NG-tube - free drainage
4) Fluid Balance [strict input/output]
5) Surgery - Pyloromyotomy - excellent prognosis
- establish feeds 6-12 hrs post-op
- d/c 24-48hrs post-op

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11
Q

What are 4 features of Coeliac Disease on Biopsy ?

A

1) Villous Atrophy (sub-total / complete)
2) Crypt Hypertrophy
3) Lamina propria plasma cell infiltration (B-cell mediated)
4) Intraepithelial cell lymphocytosis (T-cell mediated)

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12
Q

What are the serum serological tests for Coeliac disease?

A

1) Anti-tissue Transglutaminase [TTG]
- IgA
- IgG (if IgA - deficient)

2) Anti-Endomysial [EMA]

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13
Q

What HLA occurs in Coeliac Disease?

A

HLA-DQ2 or DQ8

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14
Q

Associated conditions with coeliac disease?

A

1) Type-1 diabetes
2) Thyroid disease
3) Down syndrome

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15
Q

What is Koebener-phenomenon ?

A

New psoriatic plaques, which develop at sites of Traumatic Skin.

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16
Q

Skin biopsy findings in psoriasis ? [2]

A

1) Acanthosis
2) Parakeratosis

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17
Q

What are the five [5] Red risk features of Anorexia Nervosa ?

A

1) median BMI < 70%
2) Bradycardia < 40bpm
3) prolonged QT-interval: F > 460ms, M > 400ms
4) Arrhythmia
5) Temp 35oC or less
6) Confusion / Delerium

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18
Q

Most common organism which causes necrotising fasciitis?

A

Group A streptococcus

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19
Q

Why is the use of Ibuprofen contraindicated in chicken-pox?

A

Increases risk of severe skin infections / necrotising fasciitis

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20
Q

What is the most serious side effect of Aminophylline toxicity?

A

Arrhythmia!!
Its a phosphodiesterase inhibitor - acts on adenosine receptors AV NODE

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21
Q

What is NAIT - neonatal alloimmune thrombocytopenia?

A
  • white population
  • platelet alloantigens - HPA 1a and HPA 5
  • severe thrombocytopenia (platelet desctruction)
  • intracranial bleeding :(
  • NO heart block
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22
Q

What is Kasabach Merrit syndrome?

A

Giant haemangioma
Thrombocytopenia
Consumption coagulopathy

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23
Q

What conditions are associated with HLA b5?

A

Behcet syndrome - uveitis, genital ulcers, apthous ulcers
Polycystic kidney disease
UC

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24
Q

What conditions are associated with HLA DR3?

A

Sjögren syndrome
Grave disease
Addisons disease

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25
Q

Diagnostic features of NF 1?

A

CAFE SPOT

C Café au lait spots

A Axillary or inguinal freckling

F neuroFibroma (two or more) or plexiform neurofibroma (one)

E Eye hamartomas (Lisch nodules)

S Skeletal abnormalities, eg sphenoid dysplasia, leg bowing

P Positive family history

OT Optic Tumour (optic-nerve glioma)

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26
Q

What is Gittelman’s syndrome?

A

Autosomal recessive renal condition affecting the sodium chloride transporter in the DCT.

  • hypokalaemia
  • hypomagnesaemia
  • hypocalciuria

Normal Blood Pressure: maintained due to RAAS-activation

Blood Gas: metabolic hypokalaemic alkalosis

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27
Q

What retinal changes do you expect to find in hypertension?

A

Arterial narrowing with focal irregularities
Flame shaped retinal haemorrhages
Exudates


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28
Q

What retinal changes do you find hyperlipidaemia?

A

Arterio Venus nicking
Sclerosis
Tortuous vessels

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29
Q

What retinal changes do you find in non-proliferative diabetic retinopathy?

A

Microaneurysms
Dot & blot haemorrhages
Venous bleeding
Cotton wool spots

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30
Q

What retinal changes do you find in proliferative sickle cell retinopathy?

A

Peripheral arteriovenous anastomoses (hair pin loops)
Salmon patch haemorrhages

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31
Q

What is are the blood investigations that are expected in Familial Hypercholesterolaemia ?

A

1) Isolated rise in Total Cholesterol
- Normal Triglycerides
- Normal / Upper limit HDL

2) DNA-analysis to confirm diagnosis

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32
Q

What is the inheritance and pathophysiology of Familial Hypercholesterolaemia?

A

Autosomal-dominant:

MOA: LDL-receptor deficit

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33
Q

What is the initial management for Familial Hypercholesterolaemia ?

A

Statins

Fibrate: can be used in cases with raised triglycerides, and also help HDL-levels rise

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34
Q

What is the primary hormone responsible for testicular descent?

A

Insulin like 3 protein

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35
Q

How many stages are involved in Testicular Descent ?

A

Stage I - Transabdominal Phase: (3 Hormones)
Androgens, Insulin like 3-protein, Mullerian inhibiting hormone exert effects on two important structures
- Cranio-suspensory Ligament
- Gubernaculum

Stage II - Inguinoscrotal Phase: (Insulin like 3 protein)
Thickening of the Gubernaculum at the caudal end of the testis, helps position into the inguinal canal

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36
Q

Football Sign in AXR Neonate ⚽️ ?

A

Spontaneous Intestinal Perforation

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37
Q

What physiological process during Meconium Aspiration leads to respiratory distress / increased WOB ?

A

Surfactant Function:

Meconium denatures surfactant & is a chemical irritant causing pneumonitis

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38
Q

What is the management in haemorrhagic disease of the newborn?

A

Commonly presents with bruising, GI-bleeding or umbilical bleeding 2-7 days post delivery in breastfed babies who have not received Vit.K at birth.

IV - Vitamin K

FFP

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39
Q

What affect can Meconium Aspiration have on pulmonary vasculature

A

Low O2 + High CO2 -> perinatal asphyxia stimulates vasconstriction and can lead to development of:

Persistent Pulmonary HTN [PPH]

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40
Q

At what gestation does Surfactant get produced ?

A

24-28 wks gestation - Type II pneumocystes

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41
Q

What is Choanal Atresia?

A

This is a condition whereby the Chonae of the nasal passages are blocked.

Presentation can occur unilateral or B/L with difficult passing NG-tube

If B/L babies can present with cyanosis particularly during feeding with resolves with crying as the oral airways open.

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42
Q

What genetic syndrome is Choanal atresia associated with ?

A

CHARGE-syndrome:

C - Coloboma
H - Heart Defects
A - Atresia Choanae / stenosis
R - Retardation of growth/development
G - Genito-urinary abnormalities
E - Ear Abnormalities / Deafness (SNHL)

Tracheoesophageal atresia may also develop

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43
Q

What is Hydrops Fetalis ?

A

Type of High-output cardiac failure.

Newborn disease:
- Anaemia
- Oedema
- Respiratory Distress

Can be caused by:
- Rh disease
- Haemolytic disease of newborn

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44
Q

What are the 3 main risk-factors for IVH ?

A

1) Germinal Matrix Fragility due to prematurity

2) Fluctuant cerebral blood-flow

3) Platelet + coagulation disorder

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45
Q

What are the investigative finding in DIC?

A
  • (L) Platelets
  • (L) Fibrinogen
  • (H) INR
  • (H) APTT

Risk Factors: Sepsis + Hypovolaemia

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46
Q

What is Neonatal alloimmune thrombocytopenia?

A

Isolated Low platelets in a newborn, caused by interaction between paternal platelet antigen and maternal platelet Ab’s

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47
Q

What part of the GIT does Hirschsprung’s Disease commonly affect ?

A

[80%] of cases affect the Rectum

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48
Q

Which cell membrane is responsible for lung fluid resorption?

A

Sodium Channels

At birth mature lung switches from active Cl- secretion to active Na+ absorption, in response to circulating catechloamines + glucocorticoids this facilitates lung fluid clearance.

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49
Q

What hormones help stimulate reabsorption of fetal lung fluid ?

A

Glucocorticoids

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50
Q

What is the embryological origin of the intestinal plexi ?

A

Ectoderm:

  • Intestinal nerve cells from the neural crest of the neuroectoderm undergo cranio-caudal migration between 4-7 wks gestation.
  • Failure of this migration, results in aganglionic colonic segments -> Hirschsprung’s Disease
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51
Q

How does Curosurf work?

A

Reduces the Surface Tension in the Alveoli, thereby preventing Alveoli collapse and facilitates gas exchange.

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52
Q

What are the side effects of tetracyclines during pregnancy?

A
  • Slow skeletal growth
  • Tooth pigmentation
  • Enamel Hypoplasia
  • Congenital cataracts
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53
Q

What are the teratogenic affects of amphetamines and alcohol use during pregnancy?

A

Congenital heart defects

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54
Q

What effect does maternal warfarin have on the newborn?

A

Increased risk of life-threatening fetal bleeding

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55
Q

What are the teratogenic effects of sodium valproate?

A
  • CNS abnormalities
    (Spina bifida)
  • Facial abnormalities
  • Cardiac defects
  • Limb defects
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56
Q

How does hypoxia, hypothermia & acidosis affect babies?

A

Inhibited surfactant production -> RDS

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57
Q

What are the hallmarks of Potter’s Sequence?

A
  • PUV [in the context of Antenatal Oligohydramnios]
  • Pulmonary hypoplasia - > RDS -> Intubation + Ventilation
  • B/L Renal Dysplasia. -> AKI at Birth
  • Craniofacial Abnormalities
  • Clubbed Feet
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58
Q

Which Ab’s are able to cross the placenta and cause HND?

A

Anti-Rhesus D IgG antibodies

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59
Q

Which parameter directly correlates with oxygenation?

A

Mean Airway pressure

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60
Q

What test is likely to lead to a diagnosis of ABO incompatibility?

A

Blood group

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61
Q

Name 6 Maternal risk factors that increase your risk of pulmonary hypertension in neonates [PPHN]?

A
  1. Anaemia
  2. Diabetes
  3. Fever
  4. Meconium-stained amniotic fluid
  5. Pulmonary disease
  6. UTI
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62
Q

Name 6 perinatal-risk factors that increase your risk of pulmonary hypertension in neonates [PPHN]?

A
  1. Asphyxia
  2. Aspiration (Meconium)
  3. Congenital heart defects (obstructed left -> right shunts)
  4. Myocardial disease
  5. Pneumonia
  6. Surfactant deficiency
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63
Q

In Twin-Twin Transfusion what are the common issues that can arise in the Donor Twin?

A

Reduced placental blood supply leading to:

  • Growth restriction (IUGR)
  • Oligohydramnios -> Pulmonary hypoplasia
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64
Q

In Twin-Twin Transfusion what are the common issues that can arise in the Recipient Twin?

A

Increased placenta blood supply can lead to:

  • High output cardiac failure
  • Polyhydramnios —> Fetal Hydrops
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65
Q

What is the main component of Surfactant?

A

Phospolipids
- Phosphatidylcholine

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66
Q

What is the function of Phosphatidylcholine ?

A

Lowers Surface Tension + prevents alveolar collapse

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67
Q

What are 5 X-ray features NEC?

A
  1. Ascites
  2. Distended Bowel Loops
  3. Pneumotosis Intestinalis
    (Gas within the intestinal wall)
  4. Portal Vein Gas
  5. Pneumoperitoneum
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68
Q

What organism is present in Unpasteurised Milk ?

A

Listeria Monocytogenes

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69
Q

What complications can Listeria monocytogenes cause in the antenatal period ?

A
  • Maternal D&V
  • Preterm Meconium
  • Premature Labour
  • Miscarriage
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70
Q

What does Listeria monocytogenes cause in babies ?

A

Neonate < 7 day old: Neonatal Sepsis

7 days - 3months: Meningitis

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71
Q

How does Duodenal Atresia present?

A

1-2 day old of vomiting after feeds

Milky - atresia is above the ampulla of Vater

Billious - atresia below the ampulla of Vater

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72
Q

What embryological error leads to Duodenal Atresia ?

A
  • Recanalisation Error (occurs > 6wks)
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73
Q

What vessel is the most oxygenated in fetal circulation?

A

Umbilical Vein

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74
Q

What neurological abnormalities is Congenial Melanocytic Naevus associated with ?

A

Leptomeningeal melanocytic tumours

[Requires MRI-brain + Spine 4-6months old]

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75
Q

Which Immunoglobulin is associated with Bullous Pemphigoid?

A

IgG-4 more common

IgG-2 less common

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76
Q

What gene is associated with DKA?

A

HLA-DR3 + 4

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77
Q

What electrolyte disturbance do you expect to see in Addison’s Disease?

A

Due to the lack of Cortisol patients present:

(L) Na+ - Hyponatraemia

(H) K+ - Hyperkalaemia

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78
Q

What are the potential serious side effects of suddenly stopping steroids?

A

Adrenal Suppression:

  • Anorexia
  • Abdominal Pain
  • Vomiting
  • Weight Loss
  • Fatigue
  • Headache
  • Hypoglycaemia
  • LOC
  • Siezures
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79
Q

What is the Neonatal Presentation of Beckwith-Weidmann syndrome? [3]

A
  1. Hypoglycaemia
  2. Hemi-hypertrophy (half body is larger)
  3. Macroglossia
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80
Q

What skin condition does the presence of non-inflammatory, filled pigmented skin papules/spots suggest?

A

Acne Vulgaris: “Open Comodones”

Presence of ‘Blackheads’ which is a combination of:

  • Sebum
  • Keratinocytes
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81
Q

What skin condition is suggested by the presence of non-inflammatory white bumps under the skin?

A

Acne Vulgaris: “Closed Comodone”

‘Whiteheads’ are accumulation of Keratin within an affected follicle, not open to the skin surface.

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82
Q

What are micro-comodones?

A

Clinically invisible, often precursors to open or closed comodones & inflammatory lesions

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83
Q

What are papules ?

A

Inflammatory, raised erythematous skin lesion < 5mm diameter.

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84
Q

What are cysts?

A

Cysts are swollen inflammatory skin lesions > 5mm in diameter.

Often painful & flucuant.

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85
Q

What is Acne conglobata?

A

SEVERE ACNE - cysts coalesce to sinuses

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86
Q

What is the diagnostic investigation for Cranial Diabetes insipidus [DI] ?

A

“Water Deprivation Test” - 7 hours
(Plasma Na+ & Plasma Osmolality 2hrly)

A central inability to concentrate urine.

Plasma Osmolality > Urine Osmolality
[285-305]. [<280]

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87
Q

What is MODY?

A

Maturity Onset Diabetes of the Young

6 Types MODY 1–>6

Autosomal Dominant Inheritance pattern.

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88
Q

What is the gene mutation in MODY-1, how does it present?

A

~ 10% of MODY

HNF4A: TCF —> decreased HDL-C levels

1) Hyperglycaemia

2) Macrosomia at Birth

3) Transient neonatal hypoglycaemia

Treatment: Sulphonylureas —> Insulin

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89
Q

What is the gene mutation in MODY-2, how does it present?

A

~ 30% of MODY

GCK: Glucokinase receptor mutation

Affects the Enzyme in pancreatic B-cells + Hepatocytes making them less receptive to glucose levels.

[Small incremental rise in Insulin secretion threshold —> slightly higher Fasting Glucose 5.5 - 8mmol/L]

1) Mild Stable Hyperglycaemia
2) Asymptomatic
3) Dx @ Pregnnancy

Tx: Diet + Lifestyle

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90
Q

What is the gene mutation in MODY-3, how does it present?

A

~ 50-70% of MODY [High - PENETRANCE]
63% 25yrs —> 79% 35yrs —> 96% > 35yrs

HNF1A - TCF —> inhibits key aspects of:
- Glucose transport
- Glucose metabolism
- Mitochondrial metabolism (B-cells)

Pancreas, Liver, Kidney + Small intestines

Progressive B-cell dysfuntion
Reduced Renal Threshold of Glycosuria

1) Progressive Sig. Hyperglycaemia

2) Glycosuria

3) Micro + Macrovascular complications

Tx: Sulphonylureas —> Insulin

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91
Q

What is the gene mutation in MODY-4, how does it present?

A

Rare

PDX1 —> defective IPF1
Affects:
- Pancreatic development
- Insulin Gene Expression

1) Insulin deficiency
2) Exocrine dysfunction

Tx: Insulin

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92
Q

What is the gene mutation in MODY-5, how does it present?

A

Rare < 5% of MODY also called RCAD

Progressive loss of renal function independent of diabetic nephropathy

HNF1B (TCF): affects gene regulation in several organs:
- Liver
- Kidneys
- Lung
- Small Intestine
- Ovaries

1) Renal:
- Cysts
- Dysplasia
- Hypoplastic Glomeruli

2) Genital tract malformations

3) Learning difficulties

Tx: Insulin

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93
Q

What is the gene mutation in MODY-6, how does it present?

A

Rare

NEUROD1 (TCF): affects pancreatic & neuronal development

1) Early-onset diabetes

2) Neurological Associations

Tx: Insulin

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94
Q

What 3 syndromes have MODY-genes been associated with?

A
  1. Wolfram Syndrome [DIDMOAD]
  2. Thiamine responsive Megaloblastic Anaemia syndrome
  3. Maternity-Inherited Diabetes + Deafness
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95
Q

What is DIDMOAD and what syndrome is it also known as?

A

[DIDMOAD]

  • Diabetes Insipidius
  • Diabetes Melitus
  • Optic Atrophy
  • Deafness

~ Wolfram Syndrome

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96
Q

What Clinical Criteria are suggestive of MODY?

A
  1. Strong FHx of Diabetes
  2. Onset < 25yrs
  3. Non Ketotic Hyperglycaemia
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97
Q

What 2 blood tests are suggestive of MODY?

A
  1. Absent Pancreatic Auto-Ab’s
  2. Persistent fasting C-peptide production
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98
Q

What specific mutations are suggestive of MODY?

A

HNF4A - MODY 1

GCK - MODY 2

HNF1A - MODY 3

PDX1 - MODY 4

HNF1B - MODY 5

NEUROD1 - MODY 6

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99
Q

How can Neonatal SLE present?

A
  1. Erythematous papulosquamous rash with Fine Scales, Central clearing worse on the face.
    (Often post UV-light exposure,
    e.g. post PTx for Hyperbillirubinaemia)
  2. Thrombocytopenia
  3. Congenital Heart Block [Anti-Ro or Anti-La]
  4. Transaminitis
  5. Fibroelastosis
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100
Q

What is “Bloom Syndrome” ?

A

Autosomal Recessive [AR]

  1. Growth Retardation
  2. Photosensitivity
  3. Pigment abnormalities
  4. Telangectasia

Cancer predisposition:
- Leukaemia
- Lymphoma

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101
Q

What are the Clinical features of ‘Rothmund-Thompson’ syndrome?

A

Atrophic pigmentary telangestasia
“Poikiloderma”

Cancer associations:
- Skin
- Bone (Osteosarcomas)

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102
Q

What is ‘Cockayne Syndrome’ ?

A

Autosomal Recessive [AR], characterised by:

  • Growth Failure
  • Progressive neurological deterioration
  • Dental Carries
  • Eye anomalies (Cataracts)
  • SNHL
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103
Q

What is Xeroderma Pigmentosum?

A

Autosomal Recessive [AR], Characterised by:

  • Extreme Photosensitivity
  • Freckling
  • Skin Malignancy (infancy)
  • Neurological complications [20%]
  • Eye abnormalities
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104
Q

What 5 eye abnormalities are associated with Xeroderma Pigmentosum?

A
  1. Loss of Lashes
  2. Ectropian
  3. Photophobia
  4. Conjuctival Telangestasia
  5. Corneal abnormalities
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105
Q

What is the appropriate treatment of a 1.5cm strawberry naevus on the left upper eye lid?

A

Refer to Opthalmology:

Periocular haemangiomas > 1cm of upper eye-lid or deep component can:

  • Compromise vision
  • Ambylopia
  • Astigmatism
  • Strabismus
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106
Q

What are the management options of periocular haemangiomas?

A
  1. Patch to unaffected eye
  2. Topical B-blockers (superficial lesions)
  3. Oral Propranolol
  4. Intralesional Corticosteroid
  5. Oral Corticosteroid
  6. Surgical Excision
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107
Q

What infectious triggers is Steven-Johnson syndrome [SJS] commonly associated with?

A
  1. Herpes Simplex
  2. EBV
  3. Mumps
  4. Influenza “Flu”
  5. Mycoplasma Pneumonia
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108
Q

What drugs are commonly associated with Steven Johnson Syndrome [SJS] (5) ?

A
  1. Sulphonamides
  2. Penicillins
  3. Barbiturates
  4. Phenytoin
  5. COCP

AED’s
- Carbamazepine
- Lamotrigine
- Phenytoin
- Phenobarbital

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109
Q

What additional investigations are required in patients with New diagnosis of T1DM?

A
  1. Coeliac Screen
  2. Antibody markers
    - Islet cell Ab’s
    - Glutamic acid decarboxylase [GAD] Ab’s
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110
Q

What outpatient monitoring is required in Patients with T1DM? [5]

A

HbA1C < 59mmol/mol or 7.5%
Not diagnostic in Paeds

4 Annual Screening:
- Thyroid disease
- Retinopathy
- Urine Alb/Cr ratio >12yrs
- HTN >12yrs

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111
Q

What is the chromosomal abnormality in Klinefelter’s Syndrome?

A

47 XXY - additional X-chromosome

Clinical Features at Pubertal presentation
- Tall Thin
- Small Testes
- Gynaecomastia 30% —> Breast Ca Risk
- Female distribution of Fat + Hair
- High pitched voice
- INFERTILITY 99%

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112
Q

What is Aplasia Cutis Congenia?

A

Presents from birth with a well-defined area of abnormal skin with associated hair loss.

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113
Q

What is Alopecia Ariata?

A

Is a well circumscribed area of hair loss that is acquired (not present @ birth) associated with Nail Pitting + FHx

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114
Q

What is Telogen effluvium?

A

Sudden shedding of hair 3-5months following an illness.

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115
Q

What is Trichotillomania ?

A

Behavioral condition: “pulling hair out”

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116
Q

Combination of Hypo-magnesium & Hypocalcaemia is suggestive of what condition?

A

Hypoparathyroidism

Mg - required for parathyroid hormone secretion, thus severe deficiency can lead to hypoparathyroidism

Mg-losses via
- GI (Gastritis + Omeprazole)
- Renal (loop diuretics + aminoglycosides)

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117
Q

What layer of skin do Epidermolytic Toxins A+B+D in SSSS disrupt ?

A

Area between the Stratum Spinosum + Granulosum —> Blistering of the skin + extensive exfoliation

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118
Q

What conditions are associated with HLA-B27?

A

Psoriatic Arthritis

Ankylosing Spondylitis

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119
Q

What genes is associated with MEN Type 2?

A

RET - mutations associated with MEN-II

Autosomal Dominant [AD] + Spontaneous

  • Thyroid Carcinoma
  • Hyperparathyroidism
  • Phaeochromocytoma

Marfanoid habitus also associated with RET

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120
Q

What genetic mutations are associated with Pheochromocytoma ? [3]

A
  1. RET —> MEN-II
  2. VHL —> von Hippel-Lindau disease
  3. NF1 —> Neurofibromatosis-I
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121
Q

What gs are associated with Pheochromocytoma ?

A
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122
Q

What form of amennhorea is PCOS associated with ?

A

2o - Secondary Amenhorroea

[Cessation of Menes within 6months of Menarche]

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123
Q

What Hormone change are you likely to see in PCOS ?

A

Elevated Testosterone

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124
Q

What are the Clinical Features of PCOS?

A
  • Oligomennorhoea —> Amennorhoea
  • Obesity
  • Acne
  • Hirustism
  • Acanthosis Nigricans
125
Q

What invx would you consider in PCOS?

A

(H) Testosterone
(H) FSH
(H) LH

(L) Sec-hormone binding globulin

USS - +/- presence of cysts (not Dx)

126
Q

What is the Mx of PCOS?

A
  • Lifestyle advice / interventions
  • Period Regulation [COCP, POP, IUS]
  • Acne Treatment
  • Hirustism Treatment
  • Fertility [Clomiphene or Metformin]
  • Diabetes Screening
127
Q

What is the Mx of PCOS?

A
  • Lifestyle advice / interventions
  • Period Regulation [COCP, POP, IUS]
  • Acne Treatment
  • Hirustism Treatment
  • Fertility [Clomiphene or Metformin]
  • Diabetes Screening
128
Q

What 4 Tx options are available for Hirustism in PCOS ?

A
  1. COCP - Yasmin
  2. Cyproterone Acetate
  3. Spironolactone
  4. Finasteride [Type-II 5a-reductase]
129
Q

What 4 Tx options are available for Acne?

A
  1. Topical Benzoyl Peroxide
  2. Topical Retinoids
  3. Antibiotics
  4. Isoretinoin
130
Q

What is the deficiency in PKU?

A

Enzyme deficiency:
Phenylalanine Hydroxylase
Tetrahyddrobiopterin

Phenylalanine —> Tyrosine
(Stop)

Accumulation of Phenylalanine + Lack of Tyrosine

131
Q

What clinical features suggest PKU?

A

Brain defects —> Developmental Delay

Lack of Tyrosine:
- Fair Hair
- Fair Skin
- Blue Eyes

“Mousy Odour”

132
Q

What genes + inheritance for Phenylkentonuria Hydroxylase?

A

Ch 12q 23.2

Autosomal Recessive [AR]

133
Q

What enzyme is deficient in Sjogren-Larson Sydnrome?

A

Fatty Aldehyde Dehydrogenase [FALDH]

Autosomal Recessive [AR]

Ch 17, Gene ALDH3A2 [70 mutations]

134
Q

What are the clinical features of Sjogren-Larsson syndrome?

A

Skin:
- Ichthyosis (dry skin)
- Collodion Baby
- Palmoplantar Keratoderma [70%]
(Thickening of Skin Palms + Soles)

Neuro:
- Retinal White dots
- Siezures [40%]
- Developmental delay
- Photophobia

Skeletal:
- Kyphoscoliosis
- Hip dislocation
- Short Stature

135
Q

How do you assess for Growth Hormone deficiency?

A

Stimulated Hormone level
(Glucagon Stimulates Growth Hormone)

136
Q

How does phenobarbital work

A

Activates GABA A R
First line in neonates

137
Q

Glycogen Storage disease, dark urine?

A

Myoglobinuria

(Breakdown of muscle Rhabdomyolysis)

138
Q

Continuous Urine leak despite potty training?

A

Duplex kidney

139
Q

Urge incontinence, increased Frequency

A

Detrusor Muscle instability

140
Q

What are the characteristics histological findings of Biliary Atresia? [6]

A
  1. Bile duct proliferation
  2. Fibrosis
  3. Portal Tract Oedema
  4. Fibrosis
  5. Inflammation
  6. Bile-duct plugs
141
Q

What is MELAS?

A

Mitochondrial encephalopathy with Lactic Acidosis & Stroke-like episodes

Mitochondrial Transfer RNA defects

142
Q

Female girl, Vesicular blistering rash, which develops into wart-like skin growths cutaneous lesions, occurring in a linear fashion

A

Incontinetia Pigmenti

(X-linked Dominant)

Males die in-utero

143
Q

10 year old with progressive ataxia + skeletal abnormalities with Hypertrophic cardiomyopathy is suggestive of what condition?

A

Friedreich’s Ataxia

Progression —> Severe Heart-Failure —> Death

144
Q

What are the Characteristic features of Fragile X?

A

Macrocephaly

Large Ears

Long Face

Testicular Enlargement

High arched palate

145
Q

Hx of PE, treated with Heparin infusion. Unable to achieve adequate heparin levels and prolong APTT?

A

Anti-thrombin III deficiency

146
Q

What are the enzymes affected in Congenital Adrenal Hyperplasia [CAH] ?

A
  1. 21-hydroxylase deficiency
  2. 11-beta-hydroxylase deficiency
  3. 17-alpha-hydroxylase deficiency
147
Q

CoNS infections ?

A

Commonly affect premature babies with Line-infections:

  • Staph Epidermidis

Tx - Vancomycin

148
Q

What are the main components of Breastmilk:

A
  1. 90% Water
  2. Carbohydrate
    • Lactose
    • Oligosaccharide]
  3. Lipid
    • Cholesterol
    • EFA’s
  4. Protein
  5. Bioactive components:
    • Ab’s
    • Enzymes
    • Hormones
  6. Micronutrients
    • Vitamins
    • Minerals
149
Q

What are the benefits of breastfeeding? [4]

A
  1. Breastmilk, as whole contains more nutritional components that are also beneficial to the child’s overall health.
  2. Protection against Atopic illnesses:
    - Asthma
    - Eczema
    - IBD
    - GI disorders (reduced NEC)
  3. Improves Maternal Health:
    Reduced risk of:
    - Diabetes
    - Breast Cancer
    - Ovarian Cancer
    Improves mother-child bond
    Natural contraception
    Improves post-pregnancy weight-loss
  4. Cost-effective
150
Q

What are the medical advantages seen in breastfed babies? [4]

A
  1. Immune-protection against infections:
    - Otitis Media
    - LRTi
    - Gastroenteritis
  2. 36% Reduction of SIDS
  3. Positive affect in IQ
  4. Protects against obesity, reduces obesity risk later in life.
  5. Protects against future T2DM, potentially T1DM.
151
Q

What are the Medical Disadvantages of Breastfed babies? [2]

A
  1. Low Vit.D
    - supplementation is recommended to pregnant + breastfeeding mothers
  • Multivitamins recommended from >28 days of life (Abidec, Multivits)
  1. Passing on Infection:
    - HIV Contraindicated
    - Hep B (offer HBV vaccine or HBIG)
    - Hep C
    - CMV
    - West Nile Virus
    - Human T lymphocyte virus [HTLV]
152
Q

What is Colostrum ?

A

Thick sticky ‘lemon’ yellow fluid produced in the first 3-4 days post-delivery.

153
Q

What are the nutritional components & potential benefits of Colostrum? [4]

A
  1. Vitamin A
  2. High Protein
  3. Maternal AB’s acts as 1st-immunisation with anti-ineffective properties.
  4. Increase GI-motility + help reduce early neonatal Jaundice.
154
Q

What is the Nutritional composition of Breastmilk? [4]

A
  1. 90% Water
  2. Lipids - 50% of energy content
  3. Carbohydrates - 50% energy content
  4. Protein
155
Q

What are the main benefits of the Lipid components found in Breastmilk? [4]

A
  1. Lipids - Fats provide 50% total energy
  2. contains fat for Brain grey-matter development + myelination of the nervous system.
  3. EFA’s + Omega-3 FA’s help in healthy brain, eye & blood vessel growth.
  4. Lipase helps in the digestion of fats so Breastmilk is more completely digested.
156
Q

What are the main benefits of the carbohydrates found in breastmilk ? [2]

A
  1. Carbs - provide 50% total energy content
  2. Oligosaccharides which help prevent harmful bacterial overgrowths.
157
Q

What are the main carbohydrate components found in breast milk ? [2]

A
  1. Lactose - main component
  2. Oligosaccharides:
    - glucose
    - galactose
    - N-acetylglucosamine
    - sialic acid
158
Q

What are the main protein components found in breast milk ? [2]

A

Mature breastmilk - 0.9g/dL of Protein

  1. Whey proteins
    - Lactoferrin: binds to iron, thus reducing the availability of iron for bacterial growth.
  • Lysozymes
  • AB’s: mainly IgA
  1. Casein
159
Q

What are the main benefits of the protein components found in breast milk ? [4]

A
  1. Higher proportion of Whey, allows for softer curds with facilitates digestion.
  2. Lactoferrin binds to iron, helps prevent bacterial overgrowths
  3. Lysozymes aid digestion & micronutrient absorption
  4. AB’s which help in immune-protection
160
Q

What are the benefits of breastmilk in preterm babies? [3]

A
  1. Increased Fat absorption, more energy efficient calories.
  2. EFA’s, Omega-3 FA’s & long-chain PFA’s: help in the development of:
    - brain
    - eyes
    - blood vessels
  3. Lower prevalence & severity of NEC, with lower incidence of intestinal perforation.
161
Q

What breast-conditions can affect a mother’s ability to breastfeed? [3]

A
  1. Sore / cracked nipples
  2. Engorgement
  3. Mastitis
162
Q

What is the most abundant bacteria found in the gut of breastfed babies?

A
  1. Bifidobacteriaceae (Actinobacteriae-phylum)
  • Thrive on the Oligosaccharides which are abundant in breastmilk.
  1. Bacteroidaceae - increase in number from the neonatal period.
163
Q

What is the most abundant bacteria in formula-fed babies?

A

Lachnospiraceae:

  • due to changes in gut microflora stimulated by formula.
164
Q

What enteral bacteria are likely to increase in abundance as a child transitions to solid foods? [3]

A
  1. Bacteroidetes
    • Bacteroidaceae
  2. Proteobacteria
    • Enterobacteriacae
  3. Firmicutes
    • Ruminococcaceae
165
Q

How does vitamin B12-deficiency present?

A

Combination of Neurological symptoms & Macrocytic Anaemia.

166
Q

How is Vitamin B12 obtained?

A

Water-soluble vitamin obtained via dietary sources, mainly animal products:

  • Eggs
  • Dairy
  • Fish
  • Poulty
  • Red Meat
167
Q

Which part of the GIT is Vitamin B12 absorbed from?

A

Terminal Ileum

168
Q

What factor is the absorption of Vitamin B12 from the Terminal Ileum dependent on?

A

Intrinsic Factor [IF] - secreted by the Stomach

169
Q

How does deficiency in Vitamin B12 occur? [2]

A

Two main causes:

  1. Poor intake
  2. Poor absorption
170
Q

Causes of Inadequate dietary B12 intake? [2]

A
  1. B12 deficient Breastmilk - most common cause in infants
  2. Strict Vegan Diet
171
Q

What are the main categories for causes of reduced Vitamin B12 absorption? [5]

A
  1. Auto-immune
  2. GI-Diseases
  3. Pancreatic Disease
  4. Medications
  5. Genetic
172
Q

What are the Auto-immune causes that affect Vitamin B12 absorption? [2]

A
  1. Pernicious Anaemia
  2. Autoimmune metaplastic atrophic gastritis
173
Q

What the main GI causes of impaired Vit.B12 absorption?

A
  1. Surgery
    • Gastric bypass
    • Terminal Ileum removal
  2. Crohn’s
  3. Coeliac
  4. Gastritis
  5. NEC
  6. Malabsorption syndrome
  7. Fish Tapeworm
  8. Bacterial overgrowths 2o:
    • Intestinal duplication
    • Diverticula
  9. Diphyllobothrium Latum infestation
174
Q

What is the pancreatic cause of impaired Vit.B12 absorption?

A

Pancreatic Insufficiency:
- Exocrine Pancreatic Deficiency.

175
Q

What Medications impair the absorption of Vit.B12?

A
  1. Proton Pump Inhibitor [PPi’s]
  2. H2-Receptor Antagonists
  3. Metformin
  4. Neomycin
176
Q

How does Metformin affect the absorption of Vit.B12 ?

A

Metformin: dysregulates Ca2+ homeostasis, which disrupts the formation of the B12-IF complex which is required for absorption of Vit.B12 in the Terminal Ileum.

177
Q

What are the Genetic causes that affect Vit.B12 absorption? [4]

A
  1. Hereditary Intrinsic Factor-deficiency
    [AR] rare, mutation of IF-gene:
    - deficient IF
    - defective IF
  2. Transcobalamin-deficiency [AR]rare
    Deficient or defective synthesis of transcobalamin.
  3. Imerslund-Grasbeck Syndrome [AR]rare
    Mutation in CUBN or AMN proteins -> selective Vit.B12 Ileum malabsorption.
  4. Inborn Errors of Cobalamin metabolism
    Abnormal conversion of cobalamin -> methylcobalamin or adenosylcobalamin
178
Q

What is the synonym for Vit.B12 ?

A

Cobalamin

179
Q

What protein is secreted by the salivary gland that binds to Cobalamin (Vit.B12)

A
  1. Salivary Gland secretes: (3 synonyms)
    Transcobalamin I
    Haptocorrin
    R-Binder
180
Q

How is Cobalamin (Vit.B12) liberated from food products in the stomach? [2]

A
  1. Chief Cells: secrete Pepsinogen
  2. Parietal Cells: secrete HCL

These together work in the breakdown of proteins and liberate cobalamin(Vit.B12) in the food products

181
Q

What does cobalamin bind to in the stomach?

A

Cobalamin binds to synonymous protein:
Transcobalamin I, Haptocorrin or R-binder which then travels to the duodenum.

182
Q

Where is Intrinsic factor produced?

A

[IF] is produced by parietal cells in the Stomach.

183
Q

What role to the pancreatic enzymes have in Cobalamin (Vit.B12) absorption.

A

The exocrine secretion of proteases from the pancreas into the 2nd part of the Duodenum, facilitates the liberation of cobalamin from the complex formed in the duodenum cobalamin-transcobalamin I.

This subsequently, allows cobalamin to bind to Intrinsic-factor.

184
Q

Where does Cobalamin(Vit.B12) bind to IF?

A

Cobalamin binds to IF in the distal part of the Duodenum and proximal small intestine, to form the cobalamin-IF complex.

185
Q

What role does IF play the absorption of Cobalamin (Vit.B12) ?

A

Intrinsic-factor [IF] facilitates the absorption of cobalamin (Vit.B12) in the terminal Ileum, as it binds the luminal IF-receptors on enterocytes, resulting in endocytosis of the Cobalamin-Transcobalamin I complex, which is then absorbed into the Blood plasma.

186
Q

How is cobalamin transported in the blood plasma?

A

Cobalamin can bind to 2-proteins:

  1. Transcobalamin I - (80%)
  2. Transcobalamin II - (20%)
187
Q

What is the role of Transcobalamin II?

A

Transcobalamin II: binds to cobalamin to form a complex that facilitates delivery of cobalamin (vit.B12) to the cellular tissues where it can be utilised by the cells.

188
Q

What are the important functions of Vit.B12 at a cellular level? [3]

A
  1. DNA + RNA synthesis
  2. RBC production
  3. Lipid synthesis - myelin sheath formation
189
Q

What are the ‘Non-specific’ symptoms of Vitamin B12-deficiency? [8]

A
  1. Fatigue
  2. Lethargy
  3. Weakness
  4. SOBOE
  5. Irritability
  6. Feeding difficulties
  7. Glossitis
  8. Taste impairment
190
Q

What are the Neurological Symptoms of Vit.B12 deficiency? [6]

A
  1. Paraesthesia
  2. Sensory deficits - subacute spinal cord degeneration, loss of:
    • vibration
    • proprioception
  3. Hypotonia
  4. Developmental delay
  5. Siezures
  6. Neuropsychiatric manifestations
191
Q

What are the Haematological features of Vitamin.B12 (cobalamin) deficiency? [7]

A
  1. Macrocytic Anaemia:
    • prominent RBC macro-ovalocytosis
    • MCV > 100
  2. Large Hyper-segmented Neutrophils
  3. Low serum Vit.B12
  4. High serum:
    • Methylmalonic acid
    • Homocysteine
    • LDH
  5. Moderate Hyperbilirubinaemia
  6. High urine methylmalonic acid
  7. Advanced cases:
    • Neutropenia
    • Thrombocytopenia
192
Q

What tests can be performed to look for Vit.B12 Malabsorption? [2]

A
  1. Pernicious Anaemia:
    • Anti-Intrinsic Factor AB’s
    • Anti-parietal cell AB’s
  2. Intrinsic factor - levels
193
Q

What is the management of Vit-B12 deficiency? [3]

A
  1. Dietary:
    • Vit.B12 rich foods
    • Adherence to Vit.B12 supplementation
  2. Oral Therapy:
    • Cyanocobalamin 50-150 micrograms/day
  3. IM Therapy: Hydroxycobalamin
    - x3 per wk for 2wks NO Neuro-symptoms
    - Alternate days for 3wks Neuro-symptoms
    - Life treatment if irreversible cause
  • concomitant administration of Folate is also recommended to prevent folate deficiency*
194
Q

What is the prognosis for Vit.B12 deficiency?

A

Short-term: good provided appropriate supplementation.

Long-term: B12-deficiency can cause nerve damage, may be permanent if not treated < 6 months of presentation.

195
Q

What are the DDx of Vit.B12 deficiency? [2]

A
  1. Folate deficiency
  2. Myelopathy 2o:
    • HIV
    • Cu2+ deficiency
196
Q

How does Vit.B12 deficiency result impaired DNA/RNA synthesis & megaloblastic anaemia?

A

Vit.B12 Co-factor of 2 essential Metabolic reactions.

Lack of Vit.B12 Impaired conversion of:

Homocysteine —> Methionine
(Accumulation of Homocysteine —> affects protein synthesis)

Methyl-tetrahydrofolate —>tetrahydrofolate
(Affects Purine + Pyramidine production —> affects DNA + RNA synthesis)

197
Q

How does Vit.B12 deficiency cause nerve damage and neurological manifestations?

A

Accumulation of:
1. Methylmalonic Acid
2. Homocysteine

Cause myelin damage resulting in neurological manifestations.

198
Q

What is Intestinal Lymphangiectasia?

A

A condition characterized by the dilation of lymphatic vessels in the intestinal wall.

199
Q

True or False: Intestinal Lymphangiectasia can lead to protein-losing enteropathy.

A

True

200
Q

Fill in the blank: The primary cause of Intestinal Lymphangiectasia is often _____ obstruction.

A

lymphatic

201
Q

Which of the following is a common symptom of Intestinal Lymphangiectasia? (A) Diarrhea (B) Coughing (C) Headache

A

A) Diarrhea

202
Q

What diagnostic method is commonly used to confirm Intestinal Lymphangiectasia?

A

Endoscopy with biopsy

203
Q

What diet is recommended in Severe Intestinal Lymphangiectasia?

A

High Protein, very low long-chain triglycerides with medium-chain triglycerides

204
Q

What is the primary function of Vitamin A in the human body?

A

Vitamin A is essential for vision, immune function, and skin health.

205
Q

True or False: Vitamin A deficiency can lead to night blindness.

A

True

206
Q

Fill in the blank: A severe deficiency of Vitamin A can cause __________, which is a condition characterized by dryness and clouding of the cornea.

A

xerophthalmia

207
Q

Which population groups are most at risk for Vitamin A deficiency?

A

Pregnant women, breastfeeding mothers, and children under five are most at risk.

208
Q

What are some dietary sources of Vitamin A?

A

Dietary sources include liver, fish oils, milk, eggs, and orange or yellow fruits and vegetables like carrots and sweet potatoes.

209
Q

What controvesial diet has been shown to improve behaviour in ASD?

A

Ketogenic Diet

210
Q

What is the primary function of Vitamin E in the body?

A

Vitamin E acts as an antioxidant, protecting cells from damage caused by free radicals.

211
Q

True or False: Vitamin E deficiency can lead to neurological problems.

A

True

212
Q

Fill in the blank: A deficiency in Vitamin E can cause ________ due to impaired nerve function.

A

neuropathy

213
Q

Which of the following populations is most at risk for Vitamin E deficiency? A) Healthy adults B) Individuals with malabsorption disorders C) Athletes D) Children

A

B) Individuals with malabsorption disorders

214
Q

What are common symptoms of Vitamin E deficiency?

A

Common symptoms include muscle weakness, vision problems, and immune system issues.

215
Q

What diet is recommended in Eosinophilic Oesophagitis?

A

1.) Oral Elemental Diet

2.) Exclusion Diet

216
Q

What vitamin increases the Absorption of Iron?

A

Vitamin C

217
Q

What possible factors reduce the absorption of Iron? [2]

A

1.) Diet: Tea + Coffee

2.) Drugs:
- PPI’s
- Tetracyclines
- Quinolones

218
Q

What are 3 non-haematological signs of Iron-deficiency anaemia? [3]

A

1.) Reduced CNS Higher-functions

2.) Diminished T-cell function + cell-mediated immunity

3.) Diminished Muscle performance.

219
Q

What 3 Histological changes to do see in Iron-deficiency Anaemia on Blood-film ? [3]

A

1.) Microcytic Hypochromia
2.) Anisocytosis (variant cell size)
3.) Poikilocytosis (irregular RBC shape)

220
Q

What other micronutrient deficiencies also occur in Iron-deficient anaemia ? [2]

A

1.) Vitamin B12

2.) Folate

221
Q

What dietary requirements are recommended in PKU?

A

Phenylalanine-free / reduce-diet.
Long-chain polyunsaturated FA’s

E.g. XP Analog LCP

222
Q

What Formulas is recommended in Patients with COW’s Milk Protein Allergy? [3]

A

1.) Nutramigen LGG [Hypoallergenic, Hydrolysed Proteins]

2.) PurAmino / alpha-Amino
[Amino-acid based formula]

3.) Neocate Junior [Hypoallergenic, Nutritionally complete, amino acids]

223
Q

What is the most common ECG-finding found in Anorexia Nervosa?

A

1.) Bradycardia

224
Q

What are the symptoms of Zinc-deficiency? [4]

A

Acrodermatitis Enteropathica:

1.) Recurrent Diarrhoea
2.) Symmetrical Erythematous Perioral & Perianal Rash
3.) Delayed Growth

225
Q

What complication can occur if TPN is not weaned gradually, upon refeeding?

A

Rebound Hypoglycaemia:

Due to residual high insulin levels, from TPN.

226
Q

What is the gene mutation that occurs in Adrenoleukodystrophy [ALD] ?

A

X-Linked with variable expressivity.

Mutation for ABCD1 gene - leads to a defective ALD-protein with results in an accumulation of VLCFA’s resulting in damage to Nerve-cells + Glial Cells

227
Q

What are the 4 main expressive variations of Adrenoleukodystophy?

A

1.) Childhood Cerebral Type [ccALD]

2.) Adult Cerebral Type [acALD]

3.) Adrenomyeloneuropathy [AMN]

4.) Adrenal Insufficiency Type

228
Q

What are the symptoms childhood cerebral adrenoleukodystrophy [ccALD] ? [7]

A

Toddler’s - Early school age:

1.) New - onset behavioural problems

2.) Learning disability

3.) Seizures

4.) Vision Loss

5.) Deafness

6.) Speech Loss

7.) Co-ordination difficulties

229
Q

What Diet is most appropriate for patients with Adrenoleukodystropy [ALD] ?

A

Lorenzo Oil + Moderate Fat Restriction

Prevent the accumulation of VLCFA’s.

230
Q

What Diet is Recommended in MCADD

A

Normal diet, regular meals & snack with frequent drinks, with a glucose polymer.

IF Unwell Restrict FAT

AVOID Prolonged Period of Starvation:
Defective Fatty-Acid Oxidation

231
Q

1st Line Treatment of H.Pylori?

A

x3 Triple Therapy: [7 days]

1.) Amoxicillin
2.) Clarithromycin
3.) Omeprazole

232
Q

2nd Line Treatment of H.pylori?

A

x3 Triple Therapy: [10-days]

1.) Amoxicillin

2.) Metronidazole

3.) Omeprazole

233
Q

What are the common Risk-Factors for Pyloric Stenosis? [5]

A

Pc: 4-8wks of life

1.) White / Hispanic ethnicity

2.) Boys > girls

3.) Maternal Smoking

4.) Bottle-fed

5.) Early Treatment with Macrolide Abx

234
Q

What is biliary atresia?

A

Biliary atresia is a congenital condition characterized by the absence or obstruction of the bile ducts.

235
Q

True or False: Biliary atresia can only be diagnosed in adulthood.

A

False: Biliary atresia is typically diagnosed in infants.

236
Q

Fill in the blank: The primary symptom of biliary atresia is _____ in infants.

A

jaundice

237
Q

What is the most common treatment for biliary atresia?

A

The most common treatment is a surgical procedure called the Kasai procedure.

238
Q

Multiple Choice: Which of the following is a potential complication of untreated biliary atresia? A) Liver failure B) Diabetes C) Hypertension D) Asthma

A

A) Liver failure

239
Q

What is protein losing enteropathy (PLE)?

A

Protein losing enteropathy (PLE) is a condition characterized by excessive loss of protein from the gastrointestinal tract.

240
Q

True or False: PLE can lead to hypoalbuminemia.

A

True

241
Q

Fill in the blank: Common causes of protein losing enteropathy include _____ and _____ disorders.

A

intestinal lymphangiectasia, inflammatory bowel disease

242
Q

Which diagnostic test is often used to confirm PLE?

A

Stool alpha-1 antitrypsin clearance test

243
Q

What is the primary treatment approach for managing protein losing enteropathy?

A

The primary treatment approach includes addressing the underlying cause and providing nutritional support.

244
Q

What protein is affected in the GIT, by a lack of Fibre in the Diet?

A

1.) Mucin 2 [MUC2]

Lack of fibre results in reduced energy source for intestinal microbes and leads to inner mucus layer degradation.

245
Q

What enzyme is affected in Criggler Najjar syndrome?

A

Bilirubin-uridine diphosphate glucoronsyltransferase [UGT1A1]

(H) - Unconjugated bilirubin

246
Q

What are the 3P’s of Pyloric Stenosis?

A

1.) Palpable Mass

2.) Peristalsis

3.) Projectile Vomiting

247
Q

What is biliary atresia?

A

A congenital condition in which the bile ducts are absent, blocked, or damaged, leading to bile accumulation in the liver.

248
Q

True or False: Biliary atresia can lead to liver failure if not treated.

A

True

249
Q

Fill in the blank: The primary treatment for biliary atresia is _______.

A

Kasai procedure

250
Q

Which age group is most commonly affected by biliary atresia?

A

Infants, typically diagnosed within the first few months of life.

251
Q

What are common symptoms of biliary atresia?

A

Jaundice, pale stools, dark urine, and enlarged liver.

252
Q

What is the Kasai Classification used for?

A

The Kasai Classification is used to categorize the severity of biliary atresia.

253
Q

True or False: The Kasai Classification has three main types.

A

False: It has four main types.

254
Q

Fill in the blank: The four types of the Kasai Classification are Type I, Type II, Type III, and Type _____.

A

IV

255
Q

Which type of Kasai Classification indicates the most severe form of biliary atresia?

A

Type III

256
Q

What is the primary goal of the Kasai procedure in relation to biliary atresia?

A

To restore bile flow from the liver to the intestine.

257
Q

What is a tracheo-oesophageal fistula?

A

A tracheo-oesophageal fistula is an abnormal connection between the trachea and the oesophagus.

258
Q

True or False: Tracheo-oesophageal fistula is a congenital condition.

A

True

259
Q

Fill in the blank: The most common type of tracheo-oesophageal fistula is the __________ type.

A

Type C

260
Q

What are common symptoms of tracheo-oesophageal fistula in infants?

A

Common symptoms include coughing, choking during feeding, and difficulty breathing.

261
Q

Multiple Choice: Which diagnostic procedure is commonly used to confirm tracheo-oesophageal fistula?

A

B. Contrast esophagography

262
Q

What is the primary treatment for tracheo-oesophageal fistula?

A

Surgical repair is the primary treatment.

263
Q

True or False: Tracheo-oesophageal fistula can lead to aspiration pneumonia.

A

True

264
Q

What is the role of a nasogastric tube in managing tracheo-oesophageal fistula?

A

A nasogastric tube can be used to decompress the stomach and prevent aspiration.

265
Q

Multiple Choice: Which of the following is NOT a potential complication of tracheo-oesophageal fistula?

A

C. Diabetes mellitus

266
Q

What is the typical presentation of tracheo-oesophageal fistula in a newborn?

A

The newborn may present with excessive drooling, inability to pass a nasogastric tube, and respiratory distress.

267
Q

What is malrotation?

A

Malrotation is a congenital condition where the intestines do not properly rotate during fetal development.

268
Q

True or False: Malrotation can lead to intestinal obstruction.

A

True

269
Q

Fill in the blank: The most common symptom of malrotation in infants is _______.

A

bilious vomiting

270
Q

Which imaging technique is commonly used to diagnose malrotation?

A

Upper gastrointestinal series (UGI series)

271
Q

What is the primary treatment for malrotation?

A

Surgical intervention to correct the position of the intestines.

272
Q

At what age groups can malrotation occur? [3]

A
  1. Neonatal Period
  2. Weaning of Milk —> Introduction solids
  3. < 1yrs
273
Q

What AXR finding due to commonly see in Malrotation?

A

Absent Bowel gas RLQ (colonic)

274
Q

What are the typical histological features of Coeliac Disease? [4]

A
  1. Crypt Hyperplasia
  2. Villous Atrophy
  3. Intraepithelial Lymphocytosis > 30/100
  4. Lamina Propria inflammation
275
Q

What GI pathologies are associated with Downs Syndrome T21 ? [2]

A

1.) Duodenal Atresia [20-40%]

2.) Hirschsprung’s Disease

276
Q

What is the 1st line management in Crohn’s Disease?

A

Exclusive Enteral Nutrition [ENN]
- High Protein Diet 6-8 wks, shows superior mucosal healing.

277
Q

What is Faecal Calprotectin?

A

Soluble proteins from Neutrophils, which is shed into in the lumen of the intestine & detected in the stool

278
Q

What is the primary goal of management in paediatric ulcerative colitis?

A

To induce and maintain remission while ensuring optimal growth and development.

279
Q

True or False: Biologic therapies are commonly used in the management of paediatric ulcerative colitis.

A

True

280
Q

Fill in the blank: The first-line treatment for mild to moderate ulcerative colitis in children is __________.

A

5-aminosalicylic acid (5-ASA) compounds

281
Q

What are the typical symptoms of ulcerative colitis in children?

A

Diarrhea, abdominal pain, rectal bleeding, and urgency.

282
Q

Which dietary approach is often recommended for children with ulcerative colitis?

A

A well-balanced diet with possible supplementation to address nutritional deficiencies.

283
Q

What is the pathognomonic findings of Hirschprung’s disease?

A

Recto-sigmoid ratio reversal

[Narrow Rectum, dilated proximal colon]
“Transition Zone”

284
Q

What cardiac abnormality is critical to determine prior to surgery TOF-patients?

A

Right Sided Aortic Arch

(Surgical Approach Right Thoracotomy)

285
Q

What is the Dx:
Toddler presents with frequent loose watery stools with Undigested Food items ?

A

Toddler’s Diarrhoea: 2o-Fruit Juice

High Fructose + Sorbitol can provoke.

286
Q

What are the Fat-soluble Vitamins?

A

Vit. [ADEK]

287
Q

What is Peutz-Jeghers syndrome?

A

Peutz-Jeghers syndrome is a genetic condition characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.

288
Q

True or False: Peutz-Jeghers syndrome is an autosomal dominant disorder.

A

True

289
Q

Fill in the blank: Individuals with Peutz-Jeghers syndrome have a higher risk of developing ________ cancer.

A

various types of

290
Q

Which gene is commonly associated with Peutz-Jeghers syndrome?

A

STK11 (also known as LKB1)

291
Q

What are the common clinical features of Peutz-Jeghers syndrome?

A

The common clinical features include intestinal polyps, mucocutaneous pigmentation (freckling), and increased cancer risk.

292
Q

How do patients with Duodenal Atresia present?

A

Background: Polyhydramnios
Vomiting in day 1-2 of life

293
Q

What proportion of patients with Duodenal Atresia have T21?

A

1/3

294
Q

What are the Histological features of biliary atresia? [6]

A
  1. Bile-duct proliferation
  2. Bile-duct Fibrosis
  3. Portal System Oedema
  4. Portal system inflammation
  5. Portal system fibrosis
  6. Bile-duct plugs
295
Q

What part of the GIT is affected in Malrotation?

A

Mid-gut abnormal 270-degree rotation
Distal Duodenum

296
Q

What is Galactosaemia?

A

An Enzyme deficiency: [AR, Ch9]
galactose-1-phosphate uridyltransferase —> inability to metabolise lactose + galactose

297
Q

What are the symptoms of Galactosaemia, and how does it present?

A

Hypoglycaemia

Hypotonia

Prolonged Jaundice

Sepsis - > E.Coli prone infections

B/L Cataracts

298
Q

What investigation findings would you expect to see in a patient with Galactosaemia?

A

Normal:
- Blood Glucose
- Urine Glucose
- Ammonia
- Lactate

Positive:
+ Urinary Reducing substances

299
Q

How does hereditary fructose intolerance present?

A

Upon introduction of Fructose in the Diet:

  • Liver Damage
  • Hepatomegaly
300
Q

What is Von Gierke Disease?

A

Glycogen Storage Disease-type 1
(GSD I)

  • defective glucose production from glycogen.
301
Q

What is Apo-B deficiency?

A

[AD] Mutations lead to Apo-B-100 reduced affinity for LDL receptors.

This leads to raised LDL-levels in the Blood.

302
Q

What is Apolipoprotein CII deficiency?

A

Impaired clearance of Chylomicrons in the blood —> Raises Triglyceride Blood levels —>
1. Xanthomas +
2. Increased CVD risk
3. Pancreatitis risk

303
Q

What is Apo-E deficiency?

A

Leads to Raised Cholesterol Levels.

304
Q

What diseases is Apo-E deficiency associated with? [5]

A
  1. Alzheimer’s
  2. Lewy Body Dementia
  3. Age-related Hearing Loss
  4. Age-related Macular degeneration
  5. CVD risk
305
Q

What type of feed would be most appropriate for a newborn with suspected Galactosaemia ?

A

Casein-Hydrolysate formula
(Hydrolysed Casein Protein formula)
- Hypoallergenic
- Lactose + Galactose Free / reduced

306
Q

What are the complications of PKU?

A

Untreated mother’s with PKU, high levels of phenylalanine crosses placenta.

  1. Developmental delay
  2. Learning disability
  3. CHD (Murmur)
307
Q

What Hormones are secreted in a sleep-related fashion?

A
  • Prolactin
  • Growth Hormone
308
Q

How are levels of Growth Hormone measured?

A

Stimulated Hormone Test:
Pre + Post Levels of GH are measured in response to a Glucagon.

309
Q

What is Chvostek’s sign?

A

Tapping of the parotid glands —> stimulates the facial nerve —>
Twitching of the facial muscles

Paediatrics (3 decks)

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