Pediatrics Flashcards

1
Q

hydrops foetalis is a

A
  • condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments.
  • including ascites, pleural effusion, pericardial effusion, and skin edema.
  • In some patients, it may also be associated with polyhydramnios and placental edema.
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2
Q

Fetal hydrops occurs in:

A

Hematological disorders
Lysosomal diseases
Disorders of steroid metabolism

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3
Q

name 2

Hematological disorders

A

G6PD deficiency
Pyruvate kinase deficiency

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4
Q

defiene

G6PD deficiency

A
  • Glucose-6-phosphate dehydrogenase deficiency (G6PDD), which is the most common enzyme deficiency worldwide
  • is an inborn error of metabolism that predisposes to red blood cell breakdown (hemolysis).
  • Most of the time, those who are affected have no symptoms.
  • Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop.
  • Complications can include anemia and newborn jaundice.
  • Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body.
  • A defect of the enzyme results in the premature breakdown of red blood cells.
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5
Q

Coombs test

A
  • is an immunological test used to detect antibodies that bind antigens found on red blood cells.
  • A positive Coombs test in a patient with hemolysis is a sign of immunological hemolytic anemia.
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6
Q

atypical hemolytic uremic syndrome →

A

→ in this syndrome, there is uncontrolled activation of the complement system, which causes damage to the endothelium, platelet aggregation and thrombosis in the microcirculation
- this process leads to the destruction of erythrocytes and normocytic anemia , the destruction of blood cells is not caused by antibodies.

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7
Q

define

Carney complex

A
  • rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin and endocrine system and abnormalities in skin coloring (pigment) resulting in a spotty appearance to the skin of affected areas.
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8
Q

Carney syndrome →
symptoms

A

→ it is a genetic syndrome with many components such as:

  • obesity above the waist (but with thin arms)
  • round face, skin changes
  • weak bones and muscles
  • slow growth rate in children
  • micronodular hyperplasia of the adrenal glands
  • myxomas of the skin, heart and mammary glands
  • occurrence of light brown spots on the skin
  • testicular tumors
  • other endocrine disorders, e.g. acromegaly it is a genetic syndrome with many components such as:
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9
Q

What causes Carney complex?

A
  • caused by an inactivating mutation of the PRKAR1A gene (chromosome 17q22-24) encoding the regulatory subunit 1 of kinase A
  • This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation).
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10
Q

DiGeorge syndrome

A

→ it is a congenital defect causing disturbances in the development of the thymus gland, which in embryonic development develops from the same gill pouch as the parathyroid glands.
- DiGeorge syndrome results in hypoparathyroidism.

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11
Q

type 1 autoimmune polyendocrinopathy syndrome

A

→ it is an autosomal recessively inherited polyglandular hypofunction syndrome caused by a mutation of the AIRE gene responsible for the regulation of immune tolerance; the team consists of:

  • treatment-resistant mucosal candidiasis
  • hypoparathyroidism
  • adrenal insufficiency
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12
Q

maternal hyperparathyroidism during pregnancy

A

→ fetal complications associated with maternal hyperparathyroidism include intrauterine fetal growth restriction, low birth weight, premature delivery, intrauterine death, miscarriages, and neonatal tetany.
- Hypocalcemia may occur in newborns of mothers with hyperparathyroidism due to suppression of PTH secretion by the newborn’s parathyroid glands (hypoparathyroidism).

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13
Q

CaSR inactivating mutation

A

→ Ca-SR inactivating mutations cause blockage of signal transfer to parathyroid cells, which leads to excessive PTH synthesis, which is the cause of symptoms of hyperparathyroidism .

Mutations occur in two disease entities:
- Familial benign hypocalciuric hypercalcemia (FBHH, FHH)
- Severe neonatal hyperparathyroidism (NSHPT, FNHP)

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14
Q

in 80% of children , acute pharyngitis and tonsillitis is caused by

A

viruses
- Most often, these are rhinoviruses, adenoviruses, and coronaviruses.
- If bacterial etiology is suspected, most often it is B-hemolytic streptococcus from group A
Streptoccocus pyogenes , and in these few cases antibiotic therapy is indicated.

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15
Q

the incubation period of hepatitis A in children is

A

14-42 days

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16
Q

According to Pediatrics Kawalec, factors that may disturb fetal growth include:

A
  • young mother’s age (under 16 years of age)
  • mother’s body weight deficiency before pregnancy and too little weight gain during pregnancy
  • obesity or too much weight gain during pregnancy
  • deficiencies in maternal nutrition , especially deficiency of protein, calcium, iron, B vitamins, including folic acid (vitamin B9 )
  • mother’s diseases - hypertension, hyperthyroidism, pre-pregnancy and gestational diabetes , chronic diseases of the respiratory and circulatory system (hypoxia of the mother’s body and the fetus)
  • some medications and psychoactive substances taken during pregnancy
  • fetal development defects
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17
Q

Pharmacotherapy is considered in patients with recurrent syncope despite education and lifestyle modifications. The drugs used include:

A

fludrocortisone
alpha-adrenergic receptor agonists
β-receptor blockers (propranolol, metoprolol)

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18
Q

Cystic fibrosis is a congenital dysfunction of the

A
  • chloride channel
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19
Q

Cystic fibrosis is a congenital dysfunction of the chloride channel
-There is a decrease in ?

A
  • There is a decrease in chlorine secretion and an increase in sodium absorption into cells, which leads to ionic disturbances and dehydration of the secretion of exocrine glands.
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20
Q

name 5 conditions

children with cystic fibrosis more often than healthy children develop ?

A

1) bronchiectasis may occur;

2) cholestasis and gallstones may occur;

3) sinusitis and nasal polyps may occur;

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21
Q

Cystic fibrosis is a genetic disease, inherited in an

A
  • autosomal recessive manner.
  • The cause is mutations in the gene encoding the membrane protein CFTR , which is a chloride channel.
  • The absence or incorrect structure of this protein causes blocking or impairment of the transport of chlorine from the cell and increases the absorption of sodium into the cell , which reduces the water content in the secretion of the exocrine glands.
  • Too thick secretion is produced, which causes many ailments, mainly in the respiratory and digestive systems
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22
Q

Cystic fibrosis

Changes in the respiratory system:

A
  • Increased secretion of thick mucus prevents proper cleansing of the respiratory tract, and the high concentration of NaCl and change in the pH of the fluid reduce the antibacterial properties, which is the cause of chronic infections .
  • Atelectasis, dilation and cysts appear .
  • Chronic inflammation of the nasal mucosa and paranasal sinuses develops with the presence of polyps
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23
Q

Cystic fibrosis

Changes in the digestive system:

A
  • They mainly affect the pancreas, where pancreatic fluid stagnates and its pH drops, which in turn causes activation of proteolytic enzymes and inflammation, followed by fibrosis and exocrine insufficiency, and over time also endocrine failure.
  • Due to impaired bile secretion in the liver , cholestasis, biliary cirrhosis and cholelithiasis occur.
  • Meconium ileus may occur in infants - thick meconium blocks the intestinal lumen, meconium does not pass in the first days of life, and symptoms of obstruction appear.
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24
Q

Cystic fibrosis

Tuberculosis is an infectious disease caused by

A
  • bacillus Mycobacterium tuerculosis.
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25
Q

Tuberculosis
The most common route of infection is the

A

respiratory tract (95%), less often the alimentary tract.

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26
Q

Tuberculosis

Children most often become infected from

A
  • adults in the household
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27
Q

Tuberculosis

The incubation period from the day of infection to the appearance of a positive tuberculin test is

A

2-12 weeks

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28
Q

Tuberulosis

Factors predisposing to infection are:

A
  • young age of the child, especially infancy ( we can subtract subpart B here , I didn’t find the specific age)
  • pubertal age
  • immunodeficiency (especially that caused by HIV syndrome)
  • drug-induced immunosuppression
  • diseases that impair immunity
  • poor nutritional status
  • recovery period
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29
Q

Tuberculosis

The incubation period from the day of infection to the appearance of a positive tuberculin test is 2-12 weeks. Most often, after infection, the disease enters a

A
  • a latent (inactive) state and after some time, usually 6 months to 2 years, the disease becomes active.
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30
Q

Tuberculosis

Mycobacterium infection progresses into an active disease much more easily in

A
  • infants and young children than in adults.
  • Unlike adults, children suffer from the oligomycobacterial form, which is usually not infectious
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31
Q

Tuberculosis- in children

diseases that impair immunity

A
  • Hodgkin’s disease
  • lymphocytic leukemia
  • diabetes
  • chronic renal failure (end-stage renal failure requires dialysis )
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32
Q

Diagnosing tuberculosis in children is difficult, the younger the child, the more non-specific and general symptoms there are. Most often, tuberculosis is diagnosed in children secondary to its diagnosis in adult family members. Tests to detect active tuberculosis:

A
  • bacteriological (staining of sputum samples using the Ziehl-Neelsen method to visualize mycobacteria, cultures of gastric lavage, in certain cases urine, CSF)
  • PCR tests
  • radiological
  • invasive, i.e. bronchoscopy
  • biopsy of organs suspected of tuberculous lesions.
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33
Q

Tuberculosis

Tests that detect infection in the latent stage:

A
  1. tuberculin test - We administer 2 units of tuberculin intradermally and the result is read after 48-72 hours, in Poland a positive result >=10mm in unvaccinated children, <=15 in vaccinated children, while in the UK an infiltration of >=5 is considered positive
  2. IGRA test (C) - Interferon gamma release test as a result of the immune response to antigens specific for M. tuberculosis.
    - They have an advantage over the tuberculin skin test because vaccinations do not influence the results.
    - IGRA tests are less sensitive in children <5 years of age.
    - It is recommended to perform the tuberculin skin test and the IGRA test; a positive result of one of them is the basis for confirming infection
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34
Q

Tuberculosis in children

Treatment involves the use of

A
  • 3 or 4 drugs ( rifampicin, isoniazid, pyrazinamide and ethambutol ).
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35
Q

Tuberculosis
- After 2 months, we limit the treatment to

A
  • two drugs: rifampicin and isoniazid .
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36
Q

Tuberculosis
Treatment of uncomplicated tuberculosis usually lasts about

A
  • 6 months, disseminated tuberculosis, osteoarticular tuberculosis, and death longer.
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37
Q

Tuberculosis TX in adolescents:

A
  • pyridoxine
  • vitamin B 6 , is additionally used (to prevent peripheral neuropathy), and in children with dementia, dexamethasone .
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38
Q

age & reason

Tetracyclines (doxycycline) should be avoided in children under

A
  • 12 years of age
  • because there is a risk of permanent discoloration and damage to teeth
  • or a delay in skeletal development
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39
Q

lyme disease

Antibiotics that are safe for children and effective against Borrelia burgdorferi (erythema migrans ) include

A

amoxicillin
azithromycin
clarithromycin
cefuroxime axetyl

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40
Q

symptoms ( low fever, dry cough ) and changes in the physical examination ( single rales ) and imaging ( interstitial changes and enlargement of the lung lymph nodes ) suggest

A
  • atypical pneumonia (Chlamydia pneumoniae, Mycoplasma pneumoniae).
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41
Q

Child (14 yr)

atypical pneumonia (Chlamydia pneumoniae, Mycoplasma pneumoniae).

  • The drug of first choice in such an infection are
A

macrolides:
clarithromycin or azithromycin

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42
Q

12-year-old suffering from nausea, vomiting, pain during micturition radiating to the left groin and pain in the left lumbar region since the morning. Physical examination revealed abnormalities in the abdominal cavity and a positive Goldflam sign on the left side. Laboratory tests showed normal blood count and kidney function parameters, elevated CRP, and erythrocyturia in general urine test. Ultrasound of the abdominal cavity showed left-sided hydronephrosis, the left ureter was not visible. The correct diagnosis is:

A

Urinary tract stones

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43
Q

Acute pancreatitis

AP is a consequence of an infection ascending from the

A
  • lower urinary tract
  • The clinical picture varies: from cystitis to urosepsis.
  • pain in the lumbar region
  • positive Goldflam sign
  • nausea and vomiting
  • indicator of renal parenchymal involvement would be a fever above 38.5 degrees
  • In general urine examination: we observe significant bacteremia and leukocytosis in morphology.
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44
Q

markers for monitoring the cytokine storm are

Cytokine release syndrome (CRS) sometimes called cytokine storm

A

IL-6, ferritin, LDH, D-dimer.

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45
Q

also known as

hypercytokinemia

A
  • A cytokine storm
  • is a physiological reaction in humans and other animals in which the innate immune system causes an uncontrolled and excessive release of pro-inflammatory signaling molecules called cytokines.
  • Normally, cytokines are part of the body’s immune response to infection, but their sudden release in large quantities may cause multisystem organ failure and death.
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46
Q

A 3-year-old boy was admitted to the emergency room due to high fever > 39.5°C lasting the second day, abdominal pain, apathy, lack of appetite and unpleasant urine odor. A general urine test showed leukocyturia and the presence of nitrites. Indicate the correct action:

A
  • High fever >38.5°C and abdominal pain suggest acute pyelonephritis
  • unpleasant urine odor indicates inflammation of the urinary bladder and urethra.
  • Inflammation in children may result in apathy, loss of appetite and vitality of the child.

The most common pathogen of urinary tract infections is E. coli.

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47
Q

A 3-year-old boy was admitted to the emergency room due to high fever > 39.5°C lasting the second day, abdominal pain, apathy, lack of appetite and unpleasant urine odor. A general urine test showed leukocyturia and the presence of nitrites.
The drugs of choice is?

A

The drugs of choice in OOZN are :
- cephalosporins
- amoxicillin with cavulanic acid
- piperacillin with tazobactam
- aminoglycosides
- The route of administration depends on the patient’s clinical condition.

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48
Q

Wilms tumor

A

(nephroblastoma)
originates from the germ cells of the kidney and is the most common kidney tumor in children

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49
Q

Neuroblastoma (NBL) and related tumors arise from the

A
  • primary neural lamina, which forms the adrenal medulla and the sympathetic nervous system
  • Classically, the starting point of an abdominal tumor is the adrenal medulla
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50
Q

non-Hodgkin’s lymphoma

A
  • B-cell tumors more often present as NHL [non-Hodgkin’s lymphoma], with enlarged lymph nodes in the head and neck or abdominal cavity
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51
Q

Medulloblastoma

A

(medulloblastoma, approx. 20%) are located in the midline of the posterior cranial fossa

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52
Q

dysgerminoma

A
  • Germ cell tumors (GOT) can be both benign and malignant.
  • They develop from primitive reproductive cells that migrate from the yolk sac to form the gonads of the fetus.
  • Benign tumors most often appear in the sacrococcygeal area , while malignant tumors are usually located in the gonads .
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53
Q

X-ray image and probable etiology of infection:

Streptococcus pneumoniae

A
  • lobar pneumonia
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54
Q

X-ray image and probable etiology of infection:

Staphylococcus aureus

A
  • multifocal lesions, abscesses, emphysematous blisters
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55
Q

X-ray image and probable etiology of infection:

atypical bacteria

A
  • interstitial, perihilar, band-shaped inflammatory changes, possibly peripheral distension, possibly fluid in the pleura,
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56
Q

X-ray image and probable etiology of infection:

viruses

A
  • bronchial, interstitial, bilateral, airy lesions,
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57
Q

X-ray image and probable etiology of infection:

whooping cough

A
  • the image of a “tent”,
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58
Q

X-ray image and probable etiology of infection:

pneumonia complicated by pleural empyema

A
  • most often S. pneumoniae, S. aureus , Streptococcuspyogenes
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59
Q
  • The presence of abscesses, emphysematous bullae, pneumothorax and empyema in the radiological image of the child’s lungs supports the diagnosis of
A

staphylococcal pneumonia

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60
Q

In the course of iron deficiency anemia the following are observed

A

1) a decrease in the average concentration of hemoglobin in the blood - this is one of the basic changes in the blood count of people suffering from anemia.

2) erythrocyte poikilocytosis

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61
Q

erythrocyte poikilocytosis

A
  • poikilocytosis is a phenomenon of the presence of blood cells of different shapes.
  • In the case of anemia, anisocytosis, or the presence of blood cells of different sizes, may also appear.
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62
Q

Crede’s procedure:

Prophylaxis of gonococcal conjunctivitis - prophylaxis involves the use of

A
  • 1% silver nitrate solution (Crede’s procedure) or
  • 0.5% erythromycin in ointment
    or
  • solution or 1% tetracycline solution or ointment.

Note: Every child after birth – including newborns born by caesarean section –
is given gonococcal conjunctivitis prophylaxis. Currently, 0.5% erythromycin ointment

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63
Q

Inhaled glucocorticosteroids

Therapeutic procedures for subglottic laryngitis:

Mild croup

A
  • dexamethasone: 0.15 mg/kg bw (max: 8 mg) intramuscularly or orally
    or
  • budesonide: 2 mg nebulized
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64
Q

Inhaled glucocorticosteroids

Therapeutic procedures for subglottic laryngitis:

Croup moderate

A
  • dexamethasone: 0.3 mg/kg bw (max: 8 mg) intramuscularly or orally
    and/or
  • budesonide: 2 mg in nebulization
    and/or
  • 0.1% epinephrine in nebulization: 0.5 ml/kg bw (max: 5 ml)
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65
Q

Inhaled glucocorticosteroids

Therapeutic procedures for subglottic laryngitis:

Heavy groats

A
  • 0.1% epinephrine in nebulization: 0.5 ml/kg bw (max: 5 ml) (first)
    and
  • dexamethasone: 0.6 mg/kg bw (max: 8 mg) intramuscularly
    and/or
  • budesonide: 2 mg in nebulization
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66
Q

diagnosis of IgA-related vasculitis:
(formerly Schönlein–Henoch disease ):

A
  • the development of the disease is often preceded by an upper respiratory tract infection ;
  • a typical and obligatory symptom of the disease is a rash - it appears symmetrically on both buttocks, extensor surfaces of the arms and lower legs and around the ankle joints; skin lesions are maculopapular, then hemorrhagic , palpable under the fingers when palpating the skin;
  • joint pain, especially in the knee and ankle joints, occurs in 2/3 of patients;
  • more than 80% of patients have micro- or macroscopic hematuria with moderate proteinuria .
    Additionally, patients with Schönlein–Henoch disease may experience colicky abdominal pain .
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67
Q

Acute bronchiolitis

Treatment

Acute bronchiolitis is self-limiting and the most important thing is to ensure
proper?

A
  • hydration and nutrition of the child, and in case of SpO2 < 90% – inclusion of oxygen therapy . The

use of :

1) antibiotic therapy,
2) ribavirin or anti-RSV antibodies,
3) glucocorticosteroids,
4) bronchodilators (beta-mimetics, adrenaline),
5) 3% NaCl in nebulization – used only in hospitalized patients,
6) physical therapy.

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68
Q

The clinical picture presented in the question corresponds to Alport syndrome :

A
  • a genetically determined syndrome - inherited in a recessive manner linked to the X chromosome;
  • leads to progressive end-stage renal disease in young male adults;
  • coexists with neurosensory deafness and visual impairment
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69
Q

Alport Syndrome
Definition

A
  • HEREDITARY NEPHROPATHY caused by disturbances in the synthesis of α chains of type IV collagen, which leads to damage to the structure of the BASEMENT MEMBRANE of the renal glomeruli and disturbances in the organ of HEARING and VISION .
  • In 85% of cases the sex-linked form (XLAS) – the full-blown form occurs in men , women are healthy carriers or have a mild disease.
  • It is the most common congenital progressive kidney disease.
    Its incidence is 1/10,000 live births.
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70
Q

Alport Syndrome
Symptoms

A

1) End-stage renal disease in all men and 15% of women.

2) Sensorineural hearing loss , which in some patients leads to deafness before the age of 40.

3) Half of patients develop ocular symptoms
during adolescence (keratoconus, macular abnormalities).

4) Urine test: hematuria , proteinuria.

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71
Q

Urin test

Alport Syndrome

A
  • *Hematuria *Hematuria is a dominant symptom of Alport syndrome, which is present from birth or appears in the 1st year of life.
  • Proteinuria appears after several years with the progression of kidney disease and in 30% of patients leads to the development of nephrotic syndrome .
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72
Q

Alport Syndrome
Treatment

A
  • Treatment is symptomatic only (ACEI may be used to reduce proteinuria) .

Kidney transplant.

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73
Q

Landau reflex

A
  • is elicited by holding the infant horizontally in the air with the face turned to the ground.
  • The infant should lift the head up, then arch the trunk and straighten the lower limbs at the hip joints.
  • The Landau reflex is present from 5 months of age and may persist until 3 years of age
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74
Q

Lust’s sign

A
  • is a contraction of the peroneal muscles and abduction of the foot in response to a percussion hammer on the common peroneal nerve (below the head of the fibula).
  • It indicates excessive neuromuscular excitability and is one of the symptoms characteristic of tetany .
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75
Q

Levine’s sign

A
  • is a symptom found in patients after myocardial infarction or with unstable angina , which consists of pointing to the sternum with a clenched fist when describing the location of pain.
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76
Q

Lasègue’s sign

A
  • is a symptom of inability to raise the lower limb in a lying position. It indicates compression of the sciatic nerve.
  • In addition, it may be accompanied by difficulty in raising the hips and the whole body from a lying position with the lower limbs straight, caused by the pain that occurs at that time.
  • The patient can perform this activity only after previously bending the legs at the knee joints. Lasègue’s sign is characteristic of sciatica .

It has two varieties:

  • the first consists of the occurrence of pain along the straight lower limb during its passive lifting;
  • the second is elicited by flexing the limb at the hip and knee joints and then straightening it; similarly, a positive symptom is indicated by the occurrence of sudden pain along the limb
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77
Q

Leigh syndrome (subacute necrotizing encephalomyelopathy):

A
  • is a rare, etiologically heterogeneous mitochondrial disease associated with a disturbance in ATP production in mitochondria ;
  • it may result from mutations in both mitochondrial and nuclear genetic material, since both contain sequences encoding enzyme proteins involved in mitochondrial metabolism.
  • Oxidative decarboxylation of pyruvate, electron transport in the respiratory chain, or ATP production by ATP synthase may be impaired;
  • It appears at the age of 3-24 months and progresses rapidly ;
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78
Q

Leigh syndrome (subacute necrotizing encephalomyelopathy)

the clinical picture includes symptoms on the part of :

A
  • nervous system - encephalomyelopathy ,
  • skeletal muscles,
  • hearts - hypertrophic cardiomyopathy is common ,
  • liver,
  • kidneys;
  • Plasma lactate and pyruvate levels are elevated , leading to metabolic acidosis .
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79
Q

Glomerulopathies
Idiopathic Nephrotic Syndrome - Diagnostics - Laboratory tests

A

1) General urine test – proteinuria , rarely hematuria.

2) Assessment of the extent of proteinuria – 24-hour urine collection for protein or protein/creatinine ratio
(or albumin/creatinine) in a morning urine sample.

3) Reduced total protein level and hypoalbuminemia, dysproteinemia.

4) Hypercholesterolemia and hypertriglyceridemia.

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80
Q

Glomerulopathies

Idiopathic Nephrotic Syndrome - Laboratory tests

ratio
(or albumin/creatinine) in a morning urine sample.

A
  • Taking a urine sample in the morning, immediately after a night’s rest, allows for the exclusion of orthostatic proteinuria (increased protein excretion after standing), which is a benign condition that does not require treatment and, according to some researchers [ 1 ], is even considered a variant of the norm.
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81
Q

The proteinogram shows

Glomerulopathies
Idiopathic Nephrotic Syndrome - Diagnostics - Laboratory tests

Reduced total protein level and hypoalbuminemia, dysproteinemia.

A
  • The proteinogram shows increased levels of α2- and β-globulins and decreased levels of γ-globulins .
  • This is due to the loss of albumin and γ-globulin in the urine, which increases the percentage of remaining protein fractions.
82
Q

café au lait stains

Phakomatoses
Neurofibromatosis type 1 - Symptoms

A
  • café au lait stains
    (from the first months of life)
  • freckled spots - 2-3 mm in diameter in the armpits and groin area
    (from puberty)
  • Lisch nodules - dark yellow or brown hamartoma-type nodules of the iris
    (in 90% of patients over 6 years of age)
83
Q

subcutaneous nodules

Phakomatoses
Neurofibromatosis type 1 - Symptoms

A
  • subcutaneous nodules – neuromas or neurofibromas :
    (from about 10 years of age)
  • are located along peripheral nerves, blood vessels, and within visceral organs,
  • located in the spinal canal, they may cause pain,
  • may develop into neurofibrosarcoma or malignant schwannoma .
84
Q
A
85
Q

plexiform neurofibromas

Phakomatoses
Neurofibromatosis type 1 - Symptoms

A
  • plexiform neurofibromas (from the first months of life) :
  • often located in the orbital area, on the neck, in the groin,
  • grow into the spinal canal, internal organs,
  • may cause hypertension , bone deformations ,
  • the skin overlying the plexiform neurofibroma is sometimes severely discolored.
86
Q

bone abnormalities, optic nerve glioma

Phakomatoses
Neurofibromatosis type 1 - Symptoms

A
  • bone abnormalities :
  • spinal curvature, macrocephaly, sphenoid dysplasia, fibula and tibia deformities,
    pathological fractures with a tendency to develop pseudoarthroses.
  • optic nerve gliomas (mainly in the first decade of life) :
  • occur in approximately 15% of patients,
  • the growing tumor compresses the optic chiasm and the hypothalamus.
87
Q

neurological observations

Phakomatoses
Neurofibromatosis type 1 - Symptoms

A
  • epilepsy in 10-15% of patients ,
  • delayed mental development in 20% of patients ,
  • hyperactivity, dyslexia, difficulties at school.
88
Q

define

Phakomatoses,

A
  • also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes.
  • The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern.
89
Q

Fainting - Causes

A
  • Reflex syncope
  • vasovagal syncope
  • situational faints
  • orthostatic hypotension
90
Q

Diabetes

Diagnosis - OGTT - Results

A venous blood serum glucose value of 156 mg/dl at the 120th minute of the OGTT test in a child is interpreted as:

A

impaired glucose tolerance.

91
Q

JIA

Clinical picture

The clinical picture of JIA varies depending on the form of the disease.
- Common symptoms include:

A

1) Arthritis :

  • symptoms – swelling , joint effusion, pain , excessive joint heat,
  • as a consequence, mobility is limited , muscle atrophy and joint contractures occur,
  • the KNEE, wrist and ankle joints are most commonly affected , but any joint may be affected.

2) Inflammation of tendons and tendon sheaths:

  • most often pain in the heel area caused by inflammation of the Achilles tendon attachment .

3) Morning stiffness - a feeling of stiffness in the joints that occurs after waking up and disappears during movement.

4) Uveitis - the most common extra-articular manifestation of JIA:

  • chronic, it typically occurs in the oligoarticular form in little girls, less frequently in the polyarticular form,
  • acute (photophobia, redness, eye pain) occurs in the form of enthesitis
    and psoriatic arthritis.
92
Q

Exclusion criteria

  • Characters - Oligoarticular Character

Assignment to a specific subgroup is made after 6 months from the onset of the disease, but it is necessary to consider the following exclusion criteria :

A

A: Physician-confirmed psoriasis in the patient or a first-degree relative.

B: Arthritis in a boy > 6 years of age with HLA-B27+.

C: HLA-B27-related condition in a first-degree relative.

D: Demonstration of RF on two occasions > 3 months apart.

E: Demonstration of systemic arthritis.

In the individual forms of JIA, all or only some of the above criteria are taken into account ( e.g. in the case of psoriatic arthritis, criterion A is not taken into account ) – detailed information on this subject can be found on the slides with the characteristics of the individual forms of JIA.

93
Q

Uveitis in JIA :

A
  • most often it affects little girls or older boys with JIA with the onset involving only a few joints ;
  • It usually occurs secondary to arthritis , at a variable time interval, but can sometimes precede the symptoms of arthritis by several years;
    -it develops more frequently in patients with the presence of antinuclear antibodies in the blood serum (especially in girls < 7 years of age);

may occur in any clinical form of JIA:
- in patients with psoriatic arthritis and arthritis with concomitant enthesitis, especially with the presence of the HLA-B27 antigen , it is most often acute , with photophobia, redness and pain of the eyeball,
- in other forms, JIA may have a completely silent – ​​“cold” – clinical course.

94
Q

Cystic fibrosis
Symptoms – Subjective

A

1) Cough – usually the first symptom, initially sporadic,
then occurring daily with expectoration of thick, purulent secretion (often after waking up).

2) Hemoptysis .
3) Shortness of breath .
4) Limited patency and chronic purulent rhinitis .

5) Passage of large, foul-smelling, fatty stools .

6) Abdominal distension and pain with episodes of intestinal obstruction.

7) Weight loss .

Cystic fibrosis – meconium ileus
Thick meconium is produced in the intestines, causing meconium ileus in about 10–20 % of newborns with CF.

[…] The initial treatment involves performing gastrografin enemas, but most patients need surgical treatment.

95
Q

Cystic fibrosis
Course – Natural

A
  • The disease usually manifests itself in early childhood (
    rarely later, when the symptoms are less severe or atypical).
  • Chronic, slow destruction of the bronchi occurs with involvement of the lung parenchyma ,
    which leads to respiratory failure and death (in Poland on average around 25 years of age ).
96
Q

Cystic fibrosis
Diagnostic criteria

A

Confirmation of diagnosis – demonstration of ≥1 of the following:

– sweat chloride concentration ≥60 mmol/l in 2 measurements on different days,

– demonstration of known pathogenic mutations of both alleles of the CFTR
gene (of fundamental importance in the case of a non-diagnostic sweat test result),

​– abnormal result of the measurement of the transepithelial potential difference in the nasal mucosa
(test not performed in Poland).

97
Q

Glomerulopathies

Acute glomerulonephritis - Diagnostics

1) General urine examination :

A
  • hematuria – dysmorphic and leached erythrocytes,
  • granular and erythrocytic casts (so-called “active urine sediment”),
  • non-nephrotic proteinuria (< 50 mg/kg/day),
  • sterile pyuria – leukocyturia with negative urine culture.
98
Q

Glomerulopathies

Acute glomerulonephritis - Diagnostics

2) Blood tests :

A
  • increased creatinine and urea levels – temporary deterioration of kidney function;
    acute renal failure occurs in 5% of patients,
  • decreased concentration of the C3 complement component.
99
Q

Acute glomerulonephritis - Diagnostics

3) Confirmation of streptococcal infection –

A

elevated antistreptolysin test (ASO):

  • a diagnostic serological test that examines the titer of specific antibodies
    directed against streptolysin O, a protein produced by group A streptococcus,
  • increased ASO indicates a streptococcal infection.

4) Renal biopsy – performed rarely, in case of suspected other causes of symptoms, chronic course or occurrence of acute renal failure.

100
Q

The main features of the WAGR syndrome are:

A

W - Wilms tumor - nephroblastoma = renal tumor in children

A - Aniridia - congenital absence of the iris

G - Genitourinary malformation - congenital defects of the urinary tract

R - Mental Retardation

101
Q

Congenital nephrotic syndrome Finnish type is caused

A
  • s a congenital nephrotic syndrome inherited in an autosomal recessive manner (NPHS1 mutation) and occurs mainly in newborns in Scandinavian countries,
  • severe proteinuria often occurs already in the intrauterine period,
  • many children are born prematurely, at 35–37 weeks of gestation, with a birth weight that is too low for gestational age,
  • a large placenta (placentomegaly) is characteristic,
  • edema is present from birth or occurs in the first weeks of life,
  • the newborn has a characteristic appearance:
    big belly,
    small nose,
    low-set ears,
    often also limb deformities secondary to a large placenta,
    wide cranial sutures due to ossification disorders,
  • In many cases, muscle weakness and neurological disorders are observed.
102
Q

Nephrotic AND Nephritic Syndrome

A
103
Q

Urinary tract infections

Procedure

The basis of UTI treatment is antibiotic therapy , which should be initiated after making the diagnosis
based on clinical symptoms and the results of a general urinalysis,
before obtaining the result of a urine culture (but AFTER collecting urine for microbiological testing).

The route of antibiotic administration depends on the child’s age and the severity of the infection:

A

1) intravenous - children < 3 months of age, serious condition of the child, severe vomiting, feeding difficulties, complications, urosepsis,

2) oral - children treated on an outpatient basis,

3) sequential therapy - iv in the initial phase of treatment, after the patient’s condition has stabilized.

104
Q

Urinary tract infections

Treatment - Upper urinary tract infection

A

1) In children up to the end of the 2nd year of life, all UTIs are treated as upper urinary tract infections
due to the impossibility of determining their location.

2) Treatment duration: 7–14 days .

3) Newborns and infants < 3 months of age – hospitalization and intravenous treatment.

4) Other children – outpatient treatment possible, hospitalization if indicated.
Route of antibiotic administration depending on the patient’s condition.

105
Q

Urinary tract infections

Treatment - Upper urinary tract infection

5) Selection of antibiotic:

A
  • 2nd generation cephalosporins ( cefuroxime ),
  • 3rd generation cephalosporins ( ceftriaxone , cefotaxime, cefixime, ceftibuten)
  • amoxicillin with clavulanic acid ,
  • ampicillin + aminoglycoside – 1st choice in newborns,
  • fluoroquinolones (ciprofloxacin) - from 12 years of age, possibly from 1 year of age as a “rescue” antibiotic.
106
Q

The basic conditions necessary for the diagnosis of bronchopulmonary dysplasia are the need

A
  • to use oxygen therapy in a child > 36 weeks of postconceptional age or oxygen therapy conducted for at least 28 days.
107
Q

bronchopulmonary dysplasia

Symptoms include:

A
  • tachypnea ,
  • dyspnoea ,
  • retraction of the intercostal spaces ,
  • zygomatic fossa ,
  • growth and weight gain disorders,
  • bronchial hyperreactivity,
  • tendency to respiratory tract infections, e.g. RSV infection.
  • The radiological image shows diffuse shadowing in the lung fields with visible cystic changes, as well as areas of distension or atelectasis mentioned in some sources.
108
Q

Bronchopulmonary dysplasia - General information

A
  • Bronchopulmonary dysplasia (BPD) is characterized by abnormal lung structure.
  • It results from impaired lung development and damage to the airways and alveoli
    by damaging factors, including oxygen therapy, positive airway pressure, and inflammation.
  • There is also a disruption in the development of pulmonary vessels, which may cause pulmonary hypertension.
  • The criterion for diagnosing BPD is the need for oxygen therapy
    in the neonatal period for at least 28 days.
109
Q

BPD classification

Depending on the result of the assessment at week 36, counting from the date of the last menstrual period (postmenstrual age, PMA), we can distinguish:

A
  • mild BPD - the baby does not require oxygen therapy in the 36th week of PMA,
  • moderate BPD - the child requires oxygen therapy with an oxygen supply of < 30% (FiO2 < 30%),
  • severe BPD - the child requires oxygen therapy with FiO2 > 30% and/or the need to use positive airway pressure (mechanical ventilation or CPAP).

The use of oxygen therapy for reasons other than BPD is not a criterion for qualification to the BPD group.

110
Q

Pathophysiology of BPD
The pathophysiology of BPD, or bronchopulmonary dysplasia,

A
  • The basic problem is the impaired development of the lungs – a reduction in the number of interalveolar septa and underdevelopment of the alveoli. There are fewer alveoli and they are large, which disrupts gas exchange.
  • Additionally, factors such as intrauterine infection, pneumonia, mechanical damage due to respirator therapy, and oxygen therapy may exacerbate changes in the pulmonary alveoli.
  • Damage to the alveoli can cause fibrosis of the interalveolar septa, which limits further alveolar division and creates a vicious circle.
  • Disturbances of the development of pulmonary alveoli are also accompanied by disorders of the development of pulmonary vessels – disorders of their distribution and hypertrophy of the muscular layer of the arteries in the pulmonary circulation, which may cause pulmonary hypertension.
111
Q

Prematurity

Bronchopulmonary dysplasia - Symptoms

A

1) the child tires easily,

2) feeding difficulties – apnea during feeding, cyanosis,

3) shortness of breath, tachypnea, use of additional respiratory muscles,

4) auscultation – rales, constant and localized crackles, and expiratory wheezing,

5) limited growth rate.

6) delayed psychomotor development.

112
Q

Bronchopulmonary dysplasia - Diagnostics - to confirm the disease

A
  • The diagnosis of bronchopulmonary dysplasia is based on typical history and clinical symptoms. No additional tests are needed

to confirm the disease , but in children with BPD the following are performed:

1) arterial blood gasometry (assessment of the severity of respiratory disorders) ,

2) blood count, CRP (suspected infection) ,

3) Lung ultrasound, chest X-ray, less frequently chest CT,

4) echocardiographic examination (features of pulmonary hypertension), BNP/NT-proBNP determination .

In the differential diagnosis, infections and respiratory tract defects should be taken into account .

113
Q

BPD image in imaging studies

Features of bronchopulmonary dysplasia on chest X-ray:

A
  • uneven aeration of the lungs,
  • uneven parenchymal densities,
  • blurring of the heart silhouette,
114
Q

BPD image in imaging studies

Features of bronchopulmonary dysplasia on chest CT:

A
  • decreased lung aeration,
  • thickening of interlobular septa,
  • fibrosis,
  • “honeycomb” image – emphysematous areas surrounded by zones of fibrosis,
    visible areas of poor vascularization.
115
Q

Rare Malignant Bone Tumors in Children

A

Non-Hodgkin’s lymphomas,
fibrosarcomas,
chondrosarcomas.

116
Q

Bone tumors

Osteosarcoma - General Information

A
  • Osteosarcoma is the most common malignant bone tumor in children, whose characteristic feature is the production of osteoid
    (approx. 70% of all malignant bone tumors in children) .
  • The peak incidence in children occurs during the growth spurt, more often in boys
    ( ♀ 10–14 years of age, ♂ 15–19 years of age).
  • The most common location is the growth cartilage area of ​​the long bones of the knee
    (distal femoral metaphysis and proximal tibial metaphysis).
117
Q

Osteosarcoma – location

A
  • Knee area – 50% of tumors,
  • proximal metaphysis of the humerus – 35% of tumors,
  • other locations – fibula, scapula, pelvic bone.
118
Q

Acute bronchitis
Epidemiology and etiology

A
  • Acute bronchitis ( ABP ) is an inflammation of the lower respiratory tract in which the dominant symptom is a cough lasting no longer than 3 weeks – dry or productive – which may be accompanied by auscultatory symptoms ( ruffling, wheezing, rales ).
  • Acute bronchitis mainly affects children up to 2 years of age and school children .
  • The etiology is usually viral (RSV, influenza and parainfluenza viruses, adenoviruses, metapneumoviruses, rhinoviruses).
  • 1% of cases are caused by atypical bacteria – Chlamydophila pneumoniae and Mycoplasma pneumoniae.
  • Whooping cough may also be the cause of bronchitis with persistent cough .
119
Q

Clinical picture

Symptoms of erythema infectiosum:

A

1) prodromal symptoms – fever, malaise, joint pain, headache,

2) characteristic skin lesions:

– intense redness on the face, mainly on the cheeks ( image of a “slapped” child ),

– pink, fading from the center, garland-like rash on the trunk, spreading circumferentially.

It may go away and then reappear over the next few weeks.

3) less frequently – joint pain or inflammation,

4) gloves and socks syndrome – sharply circumscribed erythema followed by a papular or hemorrhagic rash
on the hands and feet with accompanying pain and itching (more often in adults) ,

5) bone marrow aplasia – in patients with hemolytic diseases and immunodeficiencies .

120
Q

The Tanner scale

A

is a scale that allows determining the stage of sexual maturity in children, adolescents and adults based on morphological features - the structure of the genitals and breasts.

121
Q

The Glasgow Coma Scale:

A

assessment of disorders of consciousness ,
assessment of the severity of AP .

122
Q

The NYHA scale

A

is used to assess the severity of heart failure symptoms

123
Q

The Ballard scale is used to assess the maturity of a newborn .

A
  • The Ballard Maturity Test includes a score assessment of 7 morphological and 6 neurological features of the newborn.
  • The sum of the points allows for an approximate determination of the duration of pregnancy with an accuracy of ± 2 weeks:
124
Q

Apgar scale

A
  • is a scale used in medicine to determine the condition of a newborn immediately after birth: at 1, 3, 5 and 10 minutes of life.
125
Q

Classification criteria for Schönlein–Henoch disease:

A
  • palpable skin purpura or petechiae , predominantly involving the lower extremities, not associated with thrombocytopenia, and at least one of the following four criteria:
  • diffuse colic abdominal pain (possible intussusception, gastrointestinal bleeding);
  • typical histopathological changes in the skin (leukocytoclastic vasculitis with predominance of IgA deposits) and kidneys (proliferative glomerulonephritis with predominance of IgA deposits);
  • joint changes - inflammation (swelling or pain with limited mobility), joint pain;
  • nephropathy - proteinuria > 0.3 g per day or presence of albumin in the morning urine, hematuria or erythrocyturia.
126
Q

symptoms of neurofibromatosis type 1:

A
  • café au lait type stains ,
  • painful lumps on the abdomen - neurofibromas ,
  • freckled speckling under the arms,
  • dyslexia , which is a common problem in patients with NF1.
  • Neurofibromatosis type 1 is a neurocutaneous disease that may progress to neoplastic changes
127
Q

symptoms typical of systemic lupus erythematosus:

Skin symptoms:

A
  • acute - butterfly-shaped redness on the face, bullous/papular/vascular lesions,
  • hypersensitivity to UV light; chronic - limited/generalized skin lesions with a discoid erythema, cellulitis and others (alopecia without scarring, reticularis reticularis, maculopapular lesions
128
Q

symptoms typical of systemic lupus erythematosus:

Hematological disorders:

A
  • leukopenia with lymphopenia,
  • thrombocytopenia,
  • hemolytic anemia
129
Q

symptoms typical of systemic lupus erythematosus:

Neurological symptoms:

A
  • seizures, mental disorders, headaches ,
  • encephalopathy, strokes, disseminated mononeuropathy,
  • chorea, myelitis,
  • demyelinating changes in the CNS
130
Q

scintigraphy with 123I-labelled meta-iodobenzylguanidine (MIBG) also enables the diagnosis of

A
  • pheochromocytoma (and consequently, pheochromocytoma with extra-adrenal location, i.e. paraganglioma )
131
Q

diag/clinical/radiological

ganglion cell tumor (neuroblastoma).

A
  • diagnosis [of neuroblastoma] is based on the characteristic clinical and radiological findings and elevated urinary catecholamine (VMA/HVA) levels.
  • A biopsy confirming the diagnosis is usually performed, as well as tests for possible dissemination of the disease, i.e. bone marrow biopsy, bone scintigraphy and meta-iodobenzyl guanidine scintigraphy - MIBG .
132
Q

X-ray image and probable etiology of infection:

Streptococcus pneumoniae

A
  • lobar pneumonia,
133
Q

X-ray image and probable etiology of infection:

Staphylococcus aureus

A
  • multifocal lesions, abscesses, emphysematous bullae, pneumothorax and empyema

Pneumonia

134
Q

X-ray image and probable etiology of infection:

atypical bacteria

A
  • interstitial, perihilar, band-like inflammatory changes, possibly peripheral distension, possibly pleural fluid,
135
Q

X-ray image and probable etiology of infection:

viruses

A
  • bronchial, interstitial, bilateral, airborne lesions,
136
Q

X-ray image and probable etiology of infection:

whooping cough

A
  • “tent” image,
137
Q

Pneumonia

It may be caused by the measles virus or secondary bacterial superinfection. In the latter case, the most common etiological factors are:

A

S. Pneumoniae ,
H. Influenzae ,
S. Aureus .
Pneumonia is more common in patients with immunodeficiency , cancer and heart defects .

It is the leading cause of death in measles.

138
Q

Provide a brief summary of the post-measles complication, subacute sclerosing panencephalitis:

A
  • (Latin: leucoencephalitis subacuta scleroticans, subacute sclerosing panencephalitis, SSPE)
  • 7–10 years after measles
  • related to the persistence of infection (result of virus mutation)
  • the risk is much higher if measles is contracted in the first 2 years of life
  • boys more often
  • progressive course
  • symptoms:
    behavioral disorders,
    convulsions,
    dementia
    coma
  • Death occurs within 6–9 months
  • high concentration of γ-globulins in MR fluid
  • characteristic EEG recording
  • Imaging tests –> brain atrophy
139
Q

Pneumonia

Atypical pneumonia – Course of the disease

A

1) The patient’s condition is usually good and the onset is less abrupt.

2) The predominant symptoms are a dry, long-lasting cough , low-grade fever ,
rhinitis , sore throat , muscle and joint pain , vomiting , and diarrhea .

3) Auscultatory changes are often slight.

140
Q

Pneumonia

Atypical Pneumonia – Treatment

A

Mycoplasma and Chlamydophila :
1) Macrolide (azithromycin, clarithromycin or erythromycin).

2) Tetracyclines , e.g. doxycycline.

3) Fluoroquinolone .

Legionella :

1) Fluoroquinolone .

2) Macrolide or doxycycline (opposite of above)

141
Q

M. pneumoniae

Recognition
If M. pneumoniae infection is clinically suspected,

A
  • empirical therapy is initiated and the diagnosis is made retrospectively.
  • The EIA test is commonly used for this purpose. It involves determining antibodies against M. pneumoniae:
    – in the acute phase of the disease,
    – after 2–3 weeks, during the recovery period.
  • Both tests are necessary! M. pneumoniae infection is indicated by at least a four-fold increase in the IgG antibody titer .
142
Q

Pneumonia
Etiology

A
143
Q

Clinical picture

A
  • In case of infection caused by typical bacteria (mainly Streptococcus pneumoniae ) fever, dyspnea, tachypnea, cough (dry, then productive) , chest pain and abdominal pain
    are observed .
  • In pneumonia caused by atypical bacteria ( Chlamydophila pneumoniae, Mycoplasma pneumoniae ) dry cough , headache and slightly increased body temperature dominate .
  • Wheezing heard in a preschool child strongly indicates viral etiology .
144
Q

Pneumonia

Treatment - Antibiotic therapy

A
  • Children from 5 to 15 years of age
  • In this age group, CAP is caused equally often by atypical bacteria and S. pneumoniae .

Therefore, there is no consensus on whether the first-line drug should be a macrolide or amoxicillin .

  • Of the macrolides, clarithromycin or azithromycin are used in first-line treatment .
  • In more severe forms of CAP , a beta-lactam antibiotic
    (amoxicillin, ampicillin, ceftriaxone, cefotaxime ) combined with a macrolide is used .
  • In milder cases, treatment lasts 5 days , and in more severe cases – 7–10 days .
145
Q

Community acquired Pneumonia

treatment of CAP in children

A

Macrolides in the treatment of CAP in children
Clarithromycin

15 mg/kg/day, divided every 12 hours.
Azithromycin

10 mg/kg on the first day, then 5 mg/kg every 24 hours for 4 days
OR 10 mg/kg/day every 24 hours for 3 days

146
Q

Community acquired pneumonia- name 3

Antibiotic dosage in the treatment of CAP in older children

A
  • AMOXICILLIN:

Children > 40 kg – orally at a dose of 75–90 mg/kg/day in three divided doses (i.e. every 8 hours), or in hospital conditions intravenously 1–2 g in a dose every 6 hours,
children < 40 kg – orally at a dose of 75–90 mg/kg/day in three divided doses (i.e. every 8 hours) or intravenously at a dose of 100–200 mg/kg/day, in four divided doses (i.e. every 6 hours, not more than 4 g/day).

  • CEFTRIAXONE:

Children > 40 kg – 1000–2000 mg in one daily dose (maximum dose 4000 mg/day),
children < 40 kg – 50–100 mg/kg in one daily dose.

  • CEFOTAXIMUM:

Children > 40 kg – 500–1000 mg every 8 hours,
children < 40 kg– 50–180 mg/kg every 6–8 hours

147
Q

Clinical picture

Pneumonia caused by typical bacteria
-name bacteria
-clinical picture

A
  • mainly Streptococcus pneumoniae
  • fever, dyspnea, tachypnea, cough (dry, then productive) , chest pain and abdominal pain
    are observed .

Wheezing heard in a preschool child strongly indicates viral etiology .

148
Q

Clinical picture

In pneumonia caused by atypical bacteria
-name bacteria
-clinical picture

A
  • ( Chlamydophila pneumoniae, Mycoplasma pneumoniae )
  • dry cough , headache and slightly increased body temperature dominate .

Wheezing heard in a preschool child strongly indicates viral etiology .

149
Q

Systemic tumors

Hodgkin’s Lymphoma - Clinical Picture - Lymph Nodes

A
  • The most common symptom is unilateral (less often bilateral) enlargement
    of the cervical (60–80%) or supraclavicular
    (less often axillary and inguinal).
  • Concomitant involvement of mediastinal lymph nodes is found in 60% of cases.
  • Increased susceptibility to infections additionally affects the size of lymph nodes,
    and antibiotic therapy may contribute to their temporary reduction, delaying diagnosis.
150
Q

Systemic tumors

Hodgkin’s Lymphoma - Clinical Picture - Lymph Nodes

Lymphoma lymph nodes: describe

A

1) hard , painless,

2) grow together into packets ,

3) do not soften, ulcerate or break through to the skin surface.

Note: peripheral lymphadenopathy may coexist with mediastinal lymphadenopathy, generating symptoms

151
Q

Systemic tumors

Hodgkin’s Lymphoma - Clinical Picture
- General Symptoms -

A

1) General symptoms – occur in about 25%-30% of children – the so-called “ B ” symptoms ,

2) pruritus – very rare in children (unlike in adult patients) ,

3) immunological disorders – hemolytic anemia, thrombocytopenia, nephrotic syndrome,

4) non-specific symptoms – cough, recurrent respiratory tract infections, fatigue, abdominal pain, skin rashes, 5) extrapulmonary changes – enlarged liver and/or spleen.

152
Q

Systemic tumors-Symptoms B

Hodgkin’s Lymphoma - Clinical Picture:
- general symptoms that make up the so-called B symptoms:

A
  • Fever >38°C without any obvious cause (e.g. no signs of infection),
  • weight loss >10% in the last 6 months,
  • drenching (heavy) night sweats.
  • The cause of B symptoms is immunological disorders (secretion of cytokines) accompanying neoplastic growth.
153
Q

Hodgkin’s Lymphoma - Clinical Picture

General symptoms – occur in about 25%-30% of children – the so-called “ B ” symptoms: Mnemonics

A
  • In the illustration you can see a young person with an enlarged cervical lymph node. Our patient is slim, consumed by cancer. We see symbols of general symptoms that make up the so-called B symptoms:

= drenching night sweats – the night surrounds him, and we see a pool of sweat on the scale and in his surroundings;
the scale indicates a loss of body weight, and the kettlebell weighing on our patient reminds us of the criterion of over 10% in the last 6 months;
finally he looks at the thermometer with fear. Again… again this fever..

154
Q

tick-borne encephalitis virus: name 4

Meningitis is also caused by:

A
  • flaviviruses other than tick-borne encephalitis virus (West Nile virus, Japanese encephalitis virus, St. Louis encephalitis virus),
  • adenoviruses (in immunocompromised individuals),
  • HIV,
  • LCMV (lymphocytic encephalitis virus).
155
Q

Neuroinfections in children and adults

ZOMR - Etiology - Viral and fungal ZOMR

A

1) Viral ( aseptic )

Meningitis is caused by:

  • most often enteroviruses (ECHO and Coxsackie A),
  • mumps virus,
  • herpesviruses (HSV, VZV, rarely EBV, CMV, HHV-6) ,
  • tick-borne encephalitis virus.

2) Fungal:

  • Candida (most often C. Albicans ) ,
  • Cryptococcus neoformans ,
  • Aspergillus .
156
Q

MMR Rules: Primary dosing times

Measles =

Piggy =

Little Rose =

A

Measles = Measles

Piggy = Mumps

Little Rose = Rubella

  • 13th–15th month of life

&

  • 6th year of life
157
Q

MMR Vaccination - 2024 Immunization Program

A
  • The primary vaccination dose should be administered at 13–15 months of age .
  • A booster dose should be given at 6 years of age.
  • Exceptions:

Children who have not been vaccinated by the age of 6 should receive the missed vaccination as soon as possible, but no later than by the age of 19.

  • previous vaccination against measles is not a contraindication

to be vaccinated with a combined vaccine at the age of 6,

  • having had measles, mumps or rubella is also not a contraindication ,
    you just need to wait until the patient recovers.
  • you should not be vaccinated 4 weeks before a planned pregnancy .
158
Q

What inflammatory parameters in CSF are typical for viral infection?

A
  • protein,
  • glucose
  • lactic acid
159
Q

pleocytosis with a predominance of lymphocytes is characteristic of

A
  • viral meningitis
  • However, it is worth noting that in viral meningitis, especially those caused by enteroviruses, neutrophils may also dominate in pleocytosis in the first 24-48 hours and constitute about 60% of all cells. In these cases, the remaining inflammatory parameters in CSF (protein, glucose and lactic acid) are typical for viral infection
160
Q

bacterial meningitis

bacterial meningitis - in the cytogram, we pay attention to the presence of

A
  • pleocytosis with a predominance of multinucleated cells (neutrophils) - their increased number is observed in acute bacterial infections, but rarely in chronic infections such as syphilis, tuberculosis, viral, fungal.
  • Increased lactate concentration in the cerebrospinal fluid with accompanying leukocytosis is also a deviation indicating bacterial meningitis.
  • Reduced glucose concentration is also characteristic of bacterial infections ( lowered cerebrospinal fluid/serum index )
161
Q

bacterial meningitis

bacterial meningitis: Treatment

A
  • requires immediate antibiotic therapy
  • meningitis is a life-threatening condition, therefore in the case of bacterial etiology, antibiotic therapy must be implemented as soon as possible,
  • but preferably after performing a lumbar puncture (if there are no contraindications to it), taking blood for culture and other material if possible (e.g. material from skin lesions, synovial fluid).
162
Q

Neuroinfections in children and adults

Meningitis - Diagnostics - Cerebrospinal fluid examination

A

1) General examination of PMR .

2) Direct preparation – centrifuged sediment stained using the Gram method
(enables preliminary identification of bacteria).

3) Culture – final determination of the bacterial etiology of meningitis and drug sensitivity of the isolated bacteria.

163
Q

Neuroinfections in children and adults

Meningitis - Treatment

A
  • After collecting material for microbiological testing,* empirical antibiotic therapy* should be started immediately.
  • If purulent meningitis is suspected, treatment should be initiated no later than :
  • 3 hours – from the first contact with a medical professional,
  • 1 h – from admission to the hospital ward,
  • 30 min – if meningococcal etiology is suspected .
164
Q

In type 1 diabetes in children,

Criteria for diagnosing type I diabetes:

A
  • randomly determined glucose concentration > 200 mg/dl (≥11.1 mmol/l),
  • fasting glucose level > 126 mg/dl (≥7.0 mmol/l),
  • 2-hour oGTT glucose level > 200 mg/dl (≥11.1 mmol/l),
  • HbA1c ≥ 6.5% (1)
165
Q

In type 1 diabetes in children,

Criteria for diagnosing type I diabetes:
- Other selected deviations in laboratory tests:

A
  • glucosuria (3) and ketonuria,
  • metabolic acidosis in blood gasometry ,
  • ↑ Ht in blood count,
  • insulin (low blood concentration)
166
Q

In all children with suspected diabetes

What should be determined to confirm type 1 diabetes

A
  • In all children with suspected diabetes, antibodies against pancreatic antigens should be determined to confirm type 1 diabetes
  • anti-GAD - against glutamic acid decarboxylase
  • anti-IA2 - against tyrosine phosphatase,
    or
  • less frequently determined anti-IAA - against insulin
  • Znt8 - against the zinc transporter,
  • ICA - anti-islet antibodies)
167
Q

Respiratory diseases

  • streptococcal pharyngitis -
    The patient received 3 points on the Centor scale:
A
  • fever > 38 degrees C - 1 point ;
  • absence of cough - 1 point ;
  • enlarged anterior cervical lymph nodes - 1 point ;
  • no fibrinous coating and tonsil edema - 0 points ;
  • age 15-44 - 0 points .
168
Q

Respiratory diseases

Acute pharyngitis and tonsillitis – Treatment – ​​Antibiotic therapy for streptococcal infection

A

1) Phenoxymethylpenicillin – first choice → 1 million IU every 12 hours for 10 days.

  • If there is any doubt as to whether the patient will take the antibiotic,
  • benzathine penicillin 1.2 million units im once may be used.
169
Q

Respiratory diseases

Acute pharyngitis and tonsillitis – Test - TX

  • Due to the moderate risk of streptococcal pharyngitis, before deciding to implement antibiotic therapy, it is necessary to perform a
A
  • bacteriological test/quick test for S. pyogenes infection.
  • If the bacterial etiology of the infection is confirmed , the antibiotic of first choice is phenoxymethyl penicillin, used for 10 days.
170
Q

In newborns, meningitis is most often caused by:

A
  • Escherichia coli ,
  • Streptococcus agalactiae ,
  • Listeria monocytogenes ,
  • Klebsiella sp.
  • and other Gram-negative intestinal bacilli.
171
Q

Neuroinfections in children and adults

Meningitis - Etiology - Bacterial Meningitis

A

*Purulent : *

Most often caused by encapsulated bacteria, responsible for 90% of bacterial meningitis :

  • Neisseria meningitidis ,
  • Streptococcus pneumoniae ,
  • Haemophilus influenzae type b (Hib).

The predominant etiology varies depending on the age of the patients.

*Non-purulent : *

172
Q

Purulent inflammations are caused by

A
  • bacteria that multiply extracellularly .
  • The inflammatory reaction in these cases is granulocytic .
173
Q

The etiological factors of subglottic laryngitis are viruses

A

most often:
- parainfluenza,
- influenza,
- adenoviruses ,
- ECHO viruses
- RSV.

174
Q

Graves-Basedow’s disease or graves disease

The most common symptoms of hyperthyroidism are:

A
  • behavioral disorders (nervousness, concentration problems, learning problems ),
  • increased sweating and fatigue, constant feeling of warmth,
  • trouble falling asleep,
  • weight loss resulting from increased metabolism despite good appetite,
  • diarrhea,
  • feeling of heart palpitations,
  • positive family history of thyroid disease.
175
Q

most common cause of hyperthyroidism in children is Graves’ disease

The most characteristic symptoms visible on physical examination are:

A
  • tachycardia ,
  • exophthalmos and other eye symptoms,
  • warm and moist skin ,
  • systolic hypertension,
  • weakening of muscle strength,
  • tremors
176
Q

Neuroblastoma - Diagnostics - Laboratory tests

in the diagnosis of neuroblastoma, what are determined in a 24-hour urine collection

A
  • VMA and HVA
  • Catecholamine metabolites ( vanillylmandelic acid - VMA and homovanillin - HVA) are excreted in the urine
177
Q

Neuroblastoma - Diagnostics - Laboratory tests

It is particularly important to mark:
serum/urine/others

A

1) from serum – neurospecific enolase (NSE), LDH, ferritin.

Their increased concentration or activity constitutes a high-risk group.

2) from urine – catecholamine metabolites – vanillylmandelic acid (VMA)
and homovanillic acid (HVA) and dopamine .

Additionally: blood count, creatinine, assessment of kidney and liver function

178
Q

Congenital factor IX deficiency causes

A

hemophilia B

179
Q

Plasma hemorrhagic diathesis

Hemophilia - Definition

A

1) They are caused by deficiency or reduced activity of a coagulation factor:

– haemophilia A → coagulation factor VIII ,

– hemophilia B → coagulation factor IX .

2) The genes for both factor VIII and IX are located on the X chromosome .

Although women can be symptomatic carriers of the disease, hemophilia primarily affects men .

3) In 30% of patients the mutation occurs spontaneously and the family history is negative.

180
Q

Factor VIII (antihemophilic factor A )

A
  • Factor VIII is involved in the activation of factor Xa in the intrinsic pathway, being part of the intrinsic tenase complex .
  • Factor VIII circulates in plasma bound to von Willebrand factor (vWF).
  • Once activated, vWF regulates its concentration in plasma by protecting it from degradation by activated protein C.
  • Factor VIII deficiency leads to hemophilia A ( antihemophilic factor A ).
181
Q

Factor IX (antihemophilic factor B , Christmas factor)

A
  • Factor IX is activated by the VIIa-TF complex and also by factor XIa.
  • Factor IXa together with factor VIIIa activates factor X to factor Xa in the so-called intrinsic tenase complex , which initiates the phase of thrombin propagation, i.e. the rapid increase in its amount (“thrombin burst”).
  • Activation of factor X in the IXa-VIIIa complex is approximately 50-fold more efficient than activation of factor X occurring via the VIIa-TF complex.
  • Congenital factor IX deficiency causes hemophilia B.
182
Q

Congenital factor IX deficiency causes

A

hemophilia B

183
Q

Factor VIII deficiency

A

leads to hemophilia A ( antihemophilic factor A ).

184
Q

Haemophilia B is __ to__ times ____than haemophilia A.

A

6–7 times rarer than haemophilia A.

185
Q

Erythema infectiosum - General information

Erythema infectiosum is caused by

A
  • parvovirus B19 from the Parvoviridae family .
  • The virus is transmitted mainly by droplets, and humans are the only source of infection.
  • The incubation period is from several days to 2–3 weeks.
  • The patient is infectious for about a week until skin lesions appear.
  • The course is usually mild, but it can be more severe for specific groups of patients -
    for people with hemolytic diseases, immunodeficiencies and for pregnant women.

(they are associated with the risk of profound anemia and non-immune fetal hydrop

186
Q

Glycogenosis type VI also known as :

A

( Hers’ disease ) is :

  • inherited in an autosomal recessive manner ,
    the enzymatic defect concerns glycogen phosphorylase ,
    glycogen is stored in the liver, manifests itself with hepatomegaly, hypoglycemia.
187
Q

Glycogenosis type VII known as :

A

( Tarui’s disease ) is :

  • inherited in an autosomal recessive manner ,
  • the enzymatic defect concerns phosphofructokinase ,
  • glycogen is stored in the muscles , appears in childhood,
  • manifests itself with muscle flaccidity, muscle cramps after load, easy fatigue, and myoglobinuria.
188
Q

Glycogenosis type III known as:

A

( Cori disease ) is :

  • inherited in an autosomal recessive manner ,
  • the enzymatic defect concerns amylo-1,6-glucosidase ,
  • glycogen is stored in the liver , muscles , heart and red blood cells ,
  • manifests itself, among others, with hypoglycemia, hepatomegaly, and myopathy.
189
Q

Glycogenosis type V known as :

A

( McArdle’s disease ) is :

  • inherited in an autosomal recessive manner ,
  • the enzymatic defect concerns glycogen phosphorylase
    glycogen is stored in the muscles ,
  • appears in adolescence or adulthood,
  • manifests itself with muscle flaccidity, muscle cramps after load, easy fatigue, and myoglobinuria.
190
Q

Glycogenoses are diseases in which

A
  • glycogen is stored in various organs , including the liver and muscles (the exception is glycogenosis type 0, in which glycogen synthesis is reduced).
191
Q

Glycogenosis type II also known as:

A

( Pompe disease ) is :

  • inherited in an autosomal recessive manner ,
  • the enzymatic defect concerns lysosomal α-glucosidase
  • glycogen storage is generalized,
  • the following characters are distinguished:
    • childhood – manifested by cardiomegaly, hepatomegaly, progressive muscle hypotonia,
    • juvenile – presenting as myopathy.
192
Q

Infectious diseases

Lyme disease - Early disseminated stage - Inflammation of the nervous system ( neuroborreliosis )

Clinical picture:

A
  • simultaneous or gradual involvement of the central and peripheral nervous system at various levels,
  • lymphocytic meningitis (usually mild; headache may be the only symptom),
  • inflammation of the cranial nerves (most often facial nerve paralysis, may be bilateral).
193
Q
A
194
Q

In the treatment of acute pharyngitis and tonsillitis caused by ________, what should be administered and what rout?

A
  • Streptococcus pyogenes,
  • phenoxymethylpenicillin
  • should be administered orally :
  • ## adults and children weighing more than 40 kg at a dose of 2-3 million IU/day administered in 2 divided doses every 12 hours for 10 days,
  • children weighing less than 40 kg at a dose of 100,000-200,000 IU/kg/day, administered in 2 divided doses every 12 hours for 10 days.
195
Q

most common cause of primary hypothyroidism in children is

A

chronic lymphocytic thyroiditis (Hashimoto’s disease)

196
Q

The most common cause of hyperthyroidism in children

A

Graves’ disease

197
Q

Symptoms of hypothyroidism depend on the child’s age, in children and adolescents they are:

A
  • slowing down the pace of growth,
  • disorders of sexual maturation (pseudo-premature or delayed),
  • delayed eruption of primary or permanent teeth,
  • bradycardia ,
    – drowsiness, fatigue,
  • deterioration of academic performance,
  • cold intolerance,
  • dry skin ,
  • hair loss,
  • menstrual cycle disturbances (prolonged or heavy bleeding).v
198
Q

The most common symptoms of hyperthyroidism are:

A

– behavioral disorders (nervousness, concentration problems, learning problems ),
- increased sweating and fatigue, constant feeling of warmth,
- trouble falling asleep,
- weight loss resulting from increased metabolism despite good appetite,
- diarrhea,
- feeling of heart palpitations,
- positive family history of thyroid disease.

199
Q

common symptoms of hyperthyroidism

The most characteristic symptoms visible on physical examination are:

A
  • tachycardia ,
  • exophthalmos and other eye symptoms,
  • warm and moist skin ,
  • systolic hypertension,
  • weakening of muscle strength, tremors .
200
Q

Erythema infectiosum - General information

Erythema infectiosum is caused by parvovirus B19 from the Parvoviridae family .

A
  • The virus is transmitted mainly by droplets, and humans are the only source of infection.
  • The incubation period is from several days to 2–3 weeks.
  • The patient is infectious for about a week until skin lesions appear.
  • The course is usually mild, but it can be more severe for specific groups of patients - for people with hemolytic diseases, immunodeficiencies and for pregnant women.

(they are associated with the risk of profound anemia and non-immune fetal hydrops) .

201
Q

Aplastic crisis;
complication of what?
occurs in whom?

A
  • the most severe complication of parvovirus infection
  • occurs in children with chronic hemolytic anemia, in whom the erythrocyte turnover time is shortened (e.g. sickle cell anemia and thalassemia),
  • and in children with impaired immunity (e.g. due to cancer), who are unable to produce immune antibodies that can stop the infection
202
Q

The Apgar score includes assessment of the following characteristics

A
  • A appearance - skin color
  • P ulse - heart rate
  • Grimace - reaction to irritation
  • Activity - muscle tension
  • R espiration - breathing