Endo/Development Flashcards

1
Q

What age should kids be able to transfer things between their hands?

A

6months

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2
Q

Red flag: not being able to fix and follow by _____

A

3months

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3
Q

Baby’s should be able to coo/laugh by about ______

A

3-4 months

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4
Q

Baby should be able to sit unsupported by ____

A

6 months

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5
Q

Red flag: unable to walk (or walk only on tip toe at any stage)… What age _____

A

18 months

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6
Q

Red flag: Unable to run by _____

A

3 years

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7
Q

Should be able to build a tower of 6 cubes by ____ and 9 cubes by _______

A

2 years and 3 years

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8
Q

Autism generally diagnosed _____

A

2-4 yo

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9
Q

DM 1 has a bimodal presentation at which age ______

A

Age 5-7 and Puberty

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10
Q

Classic DM presentation/questions? (4 things)

A

Polyuria (nocturia, secondary eneuresis), polydipsia, LOW, polyphagia

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11
Q

UEC on DKA?

A

Raised Urea, Creatinine and Postassium

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12
Q

DKA Mx: FUCKING

A
Fluids
UEC and Bloods
Consider catheter
K replacement - usually start once 3.5-4
Insulin
Next and Na: Fluids and sodium and stuff
Glucose - Aim BL: 5-12mmol/L. Titrate Dextrose.
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13
Q

Pathophysiology for CAH?

A

21 hydroxylase deficiency. Autosomal recessive enzyme defect which leads to impaired production of glucocorticoids and mineralocorticoids.

Leads to increased production of sex hormones

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14
Q

Bicochemical test for diagnosing CAH?

A

Test for 17-dehydroxyprogesterone. Should be elevated

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15
Q

Prolonged jaundice, consstipation, slugghish, hoarse cry and macroglossia, coarse facial features.

A

Congenital hypothyroidism

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16
Q

What can congential hypothyroidism lead to?

A

Preventable intelectual and developmental disability.

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17
Q

Neonatal hyperthyoidism (graves) is due to

A

transplacental passage of maternal thyroid stimulating Abs from mum with Grave’s disease.

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18
Q

How do you manage Grave’s?

A

Carbimazole

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19
Q

Inadequate protein intake with reasonable caloric intake (skinny baby with big belly - refugee)

A

Kwashiorkor

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20
Q

Risk factors for Vit D def (Rickets)

A

Lack of exposure to sunlight
Dark Skin
Medical conditions
Medications (Isoniazid, rifampicin, anticonvulsant)

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21
Q

Wrist widening, muscular bone pain, hypoC symptoms, delayed dentition or closure offontanelle

A

Rickets!

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22
Q

Bow legs and knock knees are normal in ____

A

Bow legs normal in toddlers (resolve by 2-3yr)

Knock knees normal between 3-5y and resolve by about 8y.

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23
Q

Order of pubertal changes in females?

A
  1. Thelarche
    2 Pubarche
  2. Growth sput
  3. Menarche (2 years after thelarche)
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24
Q

Late pubert in males classiffied as lack of testicular enlargement by _____

A

14 years of age

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25
Q

Baby should be able to crawl by

A

9 months

26
Q

Baby should be able to walk unsupported by

A

15months

27
Q

Should be able to hop on one leg by _____

A

4 years

28
Q

Should be able to ride a tricycle and walk up stairs by

A

3 years

29
Q

Should be able to walk up and down stairs with railing

A

by 2 years

30
Q

Should be able to sit without supported

A

by 7-8 months

31
Q

Should be able to be pulled to sit with little or no head lag by

A

3 months

32
Q

Should be able to roll front to back, pulls self to sitting

A

by about 6months

33
Q

Strawberry tongue, facial sparing rash

A

Scarlet fever

34
Q

What are the heart defects associated with William’s syndrome?

A

Supravalvular aortic stenosis and peripheral pulmonary stenosis

35
Q

Small chin, posterior displacement of tongue and cleft palate

A

Pierre Robin Syndrome

36
Q

Small chin and Rocker bottom feet

A

Edward’s syndrome.

Rocker-bottom feet also seen in Patau’s Syndrome - but when seen in combination with micrognathia - Edward’s is most likley

37
Q

Microcephaly, small eyes, Cleft palate, Polydactyly, SCALP LESIONS

A

Patau syndrome (Trisomy 13)

38
Q

Micrognathia, Low set ears, Rocker bottom feet, overlapping of fingers

A

Edward’s syndrome

39
Q

Macrocephaly, long face, large ears, Small testes

A

Fragile X

40
Q

Webbed neck, pectus excavatum, short stature and pulmonary stenosis

A

Noonan’s syndrome

41
Q

Micrognathia, Posterior displacement of the tongue, cleft palate

A

Pierre Robin Syndrome

42
Q

Hypotonia, Hypogonadism, Obesity

A

Prader Willi Syndrome

43
Q

Short stature, Learning difficulties, Extrovert personality, transient neonatal hypercalcemia, Supravalvular aortic stenosis or pulmonary stenosis

A

William’s Syndrome

44
Q

What are four risk factors for DDH?

A

Female sex, Breech presentation, first born child (or fam hx) or Oligohydramnios

45
Q

What hearing test is done for newborns?

A

Screenign through Otacoustic emission test

46
Q

What test is done if Otoacoustic emission test is abnormal?

A

Auditory brainstem response test

47
Q

Distraction hearing tests is done at age ____

A

6-9months

48
Q

Pure tone audiometry test are done after age

A

3

49
Q

Diagnosis of fetal alcohol syndrome has 3 components which are:

A
  1. Characteristic facial anomalies - smooth philtrum, thin vermillon border and small palpebral fissures (Small eye opening, low nasal bridge, short nose and thin upper lip)
  2. Growth retardation such as IUGR and failure to have “catch up” growths
  3. CNS involvement such as cognitive impairment, learning disabilities, or behavioural abnormalities
50
Q

There is some delay shown in AP XRAY of left hand and wrist for bone age in _______.
There is marked delay for ____

A

Some delay for constitutional delay of growth and puberty.

Marked delay for hypothyroidism and other endocrine causes.

51
Q

______ syndrome: condition due to defective HR receptors resulting in GH insensitivity. Patients with this condition have high GH, but low levels of downstream activation (IGF-1) produced at growth plates and in the liver

A

Laron syndrome

52
Q

GH causes two things:
1.
2.

A

GH causes chondrocyte proliferation and,

GH causes IGF release - this acts on long bones and liver

53
Q

Arginine, Clonidine, insulin and dopamine cause a physiological ______ in GH

A

Increase in GH

54
Q

5 indications fo GH deficiency (stimulation testing):

1. Height

A
  1. Height <3rd percentile
  2. Decreased growth velocity
  3. Midline craniofacial anomalies
  4. Episodes of hypoglycaemia
  5. Delayed Bone age, puberty
55
Q

Side effects: pancreatitis, transient gynecomastia, increase of growth/pigmentation of nevi

A

GH therapy

56
Q

The posterior fontanelle closes by ____ weeks and the anterior by ____ months

A

Posterior 8 weeks

Anterior Fontanelle 12-18mo

57
Q

If a child has significant macrocephaly and crossing percentiles - check for ____- . And with which investigations?

A

Check for raised ICP. if fontanelle open - U/S. If closed - otherwise MRI/CT

58
Q

How do you manage congenital Hyperthyroid (due to maternal graves)?

A

Carbimazole until 2-3mo of life.

Can consider Beta-blocker for Fetal tachy

59
Q

Most common cause of congenital hypothyroidism?

A

85% are primary cases due to sporadic - mostly thyroid genesis

60
Q

3 causes of transient hypothyroidism?

A
  1. Maternal antibody related
  2. Iodine def
  3. Prenatal exposure to anti-thyroid meds