Question 5

Example of 3 developmental intestinal disorders and 5 aquired?

*Developmental* : - infant colic (2wk-4m) - meckel diverticulum - Hirschsprung *Acquired* : - acute appendicitis - intussusception - recurrent abd pain - IBS, non-ulcer dyspepsia, abdominal migraine(Pizotifen) - short bowel sy (malabs, fluid+ electrol loss) - intestinal polyps (juvenile -hamartoma, single, distal colon), also syndromes - malrotation

Intussusception - Epidemiology - cause - clinical -dx -tx - complication

- 1:500, mcc intestinal obst in infants 2m-2y (peak6-9m) - invagination of prox bowel into distal segment (mc ilium into cecum, colon through ileocecal valve)- due to enlarged peyer patches?? - paroxysmal colicky pain + palor(mouth), vomit, sausage shaped mass, distention,shock, jelly stools (late) - X-ray (distended, no gas distal) - life threatening --> enema air or contrast (barium) --> IV voluem expansion, analgesics, ATB, nasogastric tube if vomit --> insufflation --> operation - gangrene, perforation

Malrotation - Cause - two presentations - if infarction? - tx?

- =volvulus - twisting of a loop of bowel on its mesentry -inetsinal malrotation --> midgut volvulus (2-4th day) - obstruction vs obst + compromised blood supply - bllod in gastric asp or stools - billous vomiting first few days --> always assess chil w green vomiting -laparatomy - untwist, bowel placed iin on-rotated position

Ddx polyuria and polydipsia

- alwyas consider primary disorders of water balance (CDI,NDI, psychogenic) --> low urine specific gravity - renal disorders - CKD, Fanconi, NDI - mtb -DM, CDI, hypoadrenalism - Psychogenic polydipsia -DI (central, peripheral, dipsogenic) - hypokalemia and hypocalcemia - sickle cell aemia - diuretic abuse - liver disease - hyperadrenocorticism /hypo - meds (steroids, diuretics, salt suppl, vitD)

Basic diff dx of polydipsia - polyuria?

- distinguish psychogenic and DM - distinguish central Di and renal DI - dx eti of CDI and NDI

Appendicitis - Is it common? - cause - age - clinical -dx -complications - tx - tx if generalized guarding consisting w perforation

- mcc of abd pain req surgery in child - obstructed appendix by fecolith or inflm by lymphatic hyperplasia - any , rarely <3 y - LGF, flushed face, vomiting,dehyd, tachycardia, abd pain (guarding) - central colicky --> localized R iliac fossa w peritoneal infl + rebound tendernes=blumberg - incr pain on move -x-ray (fecoliths), US, lab, laprascopy - sepsis, abscess, Gi perf, peritonitis - IV atb, appendectomy - fluids, IV atb, laparatomy

What do we check newborn before leaving after birth?

- vital signs (HR120-160), RR(30-60/min), temp, BP - PE - cogenital malf - length, weight, HC - hip US - neonatal screening - red reflex - testicular descent - passing urine + meconium

Merckel's diverticulum - % of population - true consist of? - cause? - clinical - dx -tx

-2% - all 4 mucosal layer + ectopic gastric mucosa) - remnant of umbilical cord (embryonic yolk sac) - asymp or severe/painless rectal bleeding from peptic ulcer - Tc99 --> incr uptake by ectopic gastric mucosa - laparatomy (resection)

What are first line investigations in polyuria/polydipsia? 4

1) Dipstick 2) serum biochem - hypokalemia (Bartter like sy), hyperCa (sarcoidosis, HyperPTH) 3)creatinine (renal disease) 4) osm - thirst test - incr serum, decr urine --> DI - only incr urine --> psychogenic - both normal --> ??

What are done as preventive care around time of delivery?

1) suction of airways (if necessary) 2) cut and disinfection of umbilicus 3) adaptation and APGAR score 4) prevent infection is main --> immunization of mother, ATB, intact barriers of newborn 5) Credeisation - prevent gonorrhea/chlamydia 6) Vit K supp (IM) 7) breastfeeding

3 basic mechanisms for fluid turnover?

1. Thirst - hypothalamus - osmo 2. ADH: supraoptic + paraventricular ncl --> ADH + neuohypophysin II --> release acc to plasma lvl --> 3: kidney: collecting ducts -->V2 receptor --> aquaporing --> H20 transport input and output --> hold plasma osm 282-295 mosm/kg

Preventive check ups during chilhood? special ages?

15m, 18 m, 3 y, every 2 y until 18 y urine dipstick always, blood if indicated 3y --> growth, BP, dental 5 --> school ready, hearing + vision 11-13 --> lipids (chol), hb/hct 15y --> menstruation, STD, pelvic exam, contraceptive guidance

How many diseases does the newborn screening contain in CZ? Norway? What are the mc ones (6)?

CZ: 18 Norway: 25 Between 48h-7d PKU (Guthrie test), galactosemia, CAH, congenital hyperthyroidism, CF, Sickle cell anemia

When are routine visits during infant period and what do we check?

Month 1,2,4,5,9,12 1) growth - w,h,hc 2) nutrition 3) sleep poistion - prevent SIDS 4) psychomotor develop - milestones 5) hearing and vision 6) vaccination program 1st yr - 1st words, 1st steps, 10kg, 76 cm

How can we classify non-forceful return of milk and definition? What is forceful return of milk?

Non-forceful: no concern - Posseting = small amount return accompanying swallowed air -Regurg = larger, more freq loss of milk Forceful = benign vomiting - look for distress or FTT --> non bile stained (ejected before enter GIT) vs bile stained (obs ileus, intussuception - distended abd, ill)

Definition of polyuria and polydipsia in children? normal intake and output in infants and older children?

Polyuria = urine output >2.5 ml/kg/24h Polydipsia = excessive/abn thirst - DM Infants: intake>225ml/kg/d - output >5.5 ml/kg/h Older: intake >150 ml/kg /d - output >4 ml/kg/h