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1
Q

Pleiotropy

A

This is when a mutation of a single gene and it can create seemingly unrelated deviations in several organs or systems

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2
Q

What is diagnostic in cystic fibrosis?

A

An increased chlorine concentration in sweat is a diagnostic proof, a concentration above 60 mmol / l is a typical value

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3
Q

Causes of Pseudocroup

A

habitual and allergic-type mechanisms and it is mostly caused by viral infections

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4
Q

Which pathogens are likely to cause pneumonia among school-age children?

A

Mycoplasma pneumoniae, Chlamydia pneumoniae, Streptococcus pneumoniae

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5
Q

What is typical for Mycoplasma pneumoniae infection?

A

Incubation period is a couple of weeks

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6
Q

What helminth does not cause eosinophil pneumonia?

A

Oxyuris vermicularis

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7
Q

When do we consider foreign body aspiration?

A

Coughing attack and vomiting during eating

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8
Q

Fibrotic Alveolitis

A

This is a disease of unknown cause mainly involving the gas exchange. It may occur in isolation or can be in association with other diseases

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9
Q

Which is more common endogenous or exogenous bronchial asthma?

A

Exogenous is the more common variant. It is associated with different allergens that provoke the asthmatic attacks

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10
Q

Pseudocroup

A

This is the subglottic laryngitis that is typically due to viral infection

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11
Q

Treatment of Pseudocroup

A

Cool room temperature is desirable
Inhalation of adrenergic agents
In severe cases, giving inhaled or systematic steroids

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12
Q

What exam should we do in a child with bronchitis & fever?

A

Physical Examination

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13
Q

GERD can lead to the formation of what type of diseases?

A
  1. Esophagitis –> due to the irritation of the esophageal mucosa
  2. Bronchial asthma & Obstructive Bronchitis–> this is due to the gastric contents being aspirated into the respiratory tissues
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14
Q

Typical spread of childhood TB

A
  1. From mammals to humans
  2. From birds to humans via avian pathogens
  3. From humans to humans
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15
Q

Laryngotracheobronchitis

A

This is also known as Croup. This is a type of respiratory tract infection that is typically caused by viral infections, RSV.
This causes supraglottic swelling which will lead to:
barking cough, stridor & hoarse voice

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16
Q

How long do food allergies last?

A

Peanut allergy: lasts a lifetime
Seafood allergies: last a lifetime
Milk allergy: vanish by the age of 5
Egg allergy: lasts for older than 7 years of age

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17
Q

What causes proteinuria in Minimal Change Disease?

A

It is typically caused by the functional damage of the podocyte-basement immune-complex functional unit

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18
Q

Characteristics of Minimal Change Disease

A
  1. Hyper-cholesteromia
  2. Hypo-proteinemia
  3. Low serum calcium (but the ionized calcium level is normal)
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19
Q

Steroid resistant nephrotic syndrome in childhood?

A

If after 4 weeks treatment the patient is still proteinuric the patients is regarded steroid resistant.
Typically remission is usually achieved after 1-2 weeks of treatment; 95% of patients are in remission after 4 weeks

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20
Q

Characteristics of Acute poststreptococcal glomerulonephritis

A
  1. Hematuria
  2. Proteinuria
  3. Hypertension
  4. Elevated ASO titer
  5. Early antibiotic treatment of the primary infection may prevent the development of the disease
  6. It may be the consequence of scarlet fever
  7. The prognosis in childhood is usually good
  8. Hypertensive encephalopathy may be the first presenting sign
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21
Q

Complications of acute glomerulonephritis

A

Heart failure
Hyperkalaemia
Uraemia
Encephalopathy

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22
Q

Bacteriuria is determined if a mid-stream urine has:

A

100 000/ml uniform colonies of a single bacterium strain

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23
Q

How to treat acute renal failure

A
  • Fluid rescue should be done in the case of hypovolemia
  • Furosemide and Mannitol should be used as diuretic therapy
  • If oligo-anuria persists, then fluid intake should be restricted
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24
Q

Signs of Hypoglycemia in a Diabetic child

A

Irritability
Headache
Nausea, vomiting
Vertigo

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25
How to stop the acidosis in DKA
Give insulin --> this will halt the development of the ketone bodies & decrease the acidosis
26
The diabetic child's diet should consist of :
50% of the energy intake should be carbohydrates
27
What to do when a diabetic child presents to the hospital with fever and vomiting
Rapid blood sugar level examination has to be followed by the start of fluid therapy before the rest of the laboratory results arrive. Saline infusion should be started in order to correct the hypovolaemia and the inadequate perfusion.
28
Hormones that increase in puberty
Estrogen Growth hormone IGF1 Testosterone
29
Laboratory findings for hypoparathyroidism
Hypocalcaemia Hyperphosphatemia Hypophosphaturia
30
Causes of Vit D deficient rickets
Lack of sunlight Renal osteodystrophy Hereditary hypophosphatemic rickets Chronic anticonvulsive therapy
31
Features of Rickets
Costal cartilage swelling Wrist and ankle swelling Craniotabes--> thinning of the skull in infants & kids Caput quadratum--> large, squarish shaped head with thickened frontal & parietal eminences
32
Factors that can cause aplastic anemia
Ionizing radiation Chloramphenicol Parvovirus B19 Hepatitis C virus
33
Indications of allogeneic hematopoietic stem cell transplantation
1. Severe aplastic anemia 2. Acute lymphoblastic leukemia in second remission 3. High-risk acute myeloid leukemia in first remission 4. High-risk acute lymphoblastic leukemia in first remission
34
Beckwith-Wiedemenn syndrome
This is an overgrowth disorder characterized by macrosomia, macroglossia, organomegaly and developmental abnormalities
35
Characteristics of Fanconi's anemia
1. Skeletal malformations 2. Hyperpigmentation 3. Spontaneous and induced chromosome fragility
36
Average hemoglobin concentration in trimenon (‘physiological’) anemia
114 g/L
37
Average hemoglobin concentration in late anemia of premature babies
80 g/L
38
Average hemoglobin concentrations of healthy adult females
140 g/L
39
Average hemoglobin concentrations of healthy adult males
155 g/L
40
Clinical signs of iron deficiency anemia in infants and toddlers
1. Restlessness 2. Psychomotor retardation 3. Pale skin and mucous membranes 4. Somatic retardation
41
Causes of iron deficiency anemia
1. Excessive cow milk diet in toddlers 2. Celiac disease 3. Periods of rapid growth (e.g. infancy and puberty) 4. Blood loss
42
Hypochromic, microcytic anemias
β-thalassemia Lead poisoning Copper deficiency Iron deficiency
43
Frequent signs and complications of hemolytic anemia
1. jaundice 2. early development of gallstones 3. dark urine with elevated urobilinogen level 4. splenomegaly
44
Hemolytic diseases in children
1. Evan's syndrome--> this is a rare autoimmune disorder in which there is immune mediated destruction of the RBCs, WBCs & Plts 2. Glucose-6-phosphate-dehidrogenase deficiency 3. Hereditary spherocytosis 4. Kasabach–Merritt-syndrome--> this is hemangioma with thrombocytopenia. It is typically associated with vascular tumors & can be life-threatening
45
Characteristic clinical and biological findings in patients with hereditary spherocytosis
1. increased osmotic fragility of the red cells due to cell membrane defect 2. presence of microspherocytes in the blood smear 3. both hemolytic and aplastic crisis may occur 4. hemolysis will stop after splenectomy
46
Diseases associated with eosinophilia
1. Allergic diseases 2. IBD 3. Scarlet fever 4. Toxocariasis
47
What contagious childhood disease is associated with Eosinophilia
Scarlet Fever
48
Signs of hyperleukocytosis syndrome
1. CNS bleeding 2. ARDs 3. Oligo-anuria 4. Thrombosis 5. Lung hemorrhage
49
Tumor lysis triad
hyperuricemia, hyperkalemia, hyperphosphatemia
50
Characteristics of AML
1. Chloroma --> malignant tumor of granulocyte precursor cells 2. Hemorrhagic hyperplasia of the gingiva 3. HSM
51
Signs of ALL
1. HSM | 2. Bone & joint pain
52
Frequent signs of intracranial tumors in kids
1. Endocrine disorders 2. Focal neurological signs 3. Increased ICP 4. Change in personality
53
Bad prognostic signs of Neuroblastoma
1. Bone metastases 2. N-myc amplification 3. High levels of serum ferritin and LDH
54
Osteosarcoma
This arises from the metaphysis of the long bones
55
Ewings Sarcoma
This arises from the diaphysis of the long bones & also the flat
56
Signs of Hemophilia
1. frequent joint and intramuscular bleeds 2. X-linked recessive inheritance, 30% of cases represent new mutations 3. normal platelet count, bleeding time and prothrombin time, prolonged activated partial thromboplastin time 4. the mainstream of treatment is factor VIII supplementation
57
Factors that cause deep vein thrombosis in kids
1. activated protein C resistance (factor V Leiden-mutation) 2. deficiencies of anticoagulant factors (ATIII, PC, PS) 3. nephrosis syndrome 4. prothrombin gene mutation 5. newborn period
58
Langerhans cell histiocytosis
rare cancer that causes the proliferation of Langerhans cells, abnormal cells that are derived from the bone marrow and can migrate to the skin & LNs
59
Frequent non-neoplastic causes of lymphadenopathy in children
1. BCG-lymphadenopathy 2. regional lymphadenopathy of inflamed organs and tissues 3. acute, purulent lymphadenitis 4. certain virus and protozoon infections, such as adenovirus, CMV, EBV, HIV, rubella and toxoplasma
60
Iron supplementation facts
1. physiological iron requirement in healthy infants is 1 mg/kgbw/day 2. we prescribe 3-6 mg/kgbw elemental iron in form of ferrous sulfate to be taken b.i.d., orally, before meals 3. iron supplementation is to be suspended temporarily during intercurrent infections 4. Very low birth rate premature infants should be given 4 mg/kg bw/day iron supplementation after the first months of life
61
Perthes Disease
This is the disruption of the blood flow to the femur, which will lead to avascular necrosis
62
Scheuermann's Disease
This is a condition in which the vertebrae grow unevenly with respect to the sagittal plane
63
Adrenoleukodystrophy
This is due to the VLCFA accumulation in the brain --> destruction of the myelin sheaths It will cause: Hearing loss, Loss of vision, Psychomotor retardation
64
The most common type of childhood headache
Tension Headache
65
Contraindications to maternal breastfeeding
Maternal TB, Galactosemia, Maternal HIV, Respiratory failure of the preterm baby
66
Contents of maternal breast milk
0. 9-1.0 g of protein 0. 2 g of micronutrients 7. 0 g of lactose
67
How much fluid is supplemented in the case of diarrhea?
50ml/kg/d
68
Holliday Sagar
1-10 kg: 100 ml/kg/day 11-20 kg: 1000ml + 50 ml/kg/day >20 kg: 1500 ml+ 20 ml/kg/day
69
Prevalence of neonatal HIV in non-treated HIV mothers
20-30%
70
What to do if the amniotic fluid is yellow
This is typically associated with Rh incompatibility & is due to excessive bilirubin in the amniotic fluid --> so it is important to do early umbilical cord ligation
71
Complication of high doses of phenobarbital
Respiratory arrest
72
1st symptoms of salicylate overdose
Hyperventilation
73
Signs of fetal hydrops
Organomegaly | Edema of the skin & vessels
74
Edward's Syndrome
*P--> Prominent occiput *R--> Rockerbottom feet *I--> IQ is low *N--> Non-disjunction *C--> Clenched fists * E--> Low set ears microcephaly, IUGR, Congenital heart defects
75
Symptoms of Galactosemia
``` Hyperbilirubinemia Hematomas Hepatomegaly Hepatic impairment Hypoglycemia Seizures ```
76
Most severe consequence of intrauterine Listeria infection
Purulent meningitis

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