GI
What is the most reliable non-invasive test for lactase deficiency
Breath hydrogen test
One carbohydrate is my observed bacteria in the colon produced gas, if they expired hydrogen is more than 10 to 20 p.m. Then carbohydrate is not being observed properly. T
the best test for lactate deficiency: is a Direct assay from mucosal biopsy but this is invasive and requires a sample
You receive a phone call from a parent of a five year-old saying the son has had diarrhea all day. She brings them into the office for evaluation you notice he's mighty dehydrated and does not have any other diseases what is the best therapy
Oral hydration therapy
do not recommend clear liquids as they can be hypertonic with glucose and pros
What is the factor deficiency in hemophilia a, hemophilia B
Factor 8 deficiency, factor nine deficiency
A history of cyclic wall syndrome is associated with which disorder
Migraine headaches
ask a history of family history of migraines
it is due to dysfunction of the vasovagal axis
pots also has a similar pattern
Children with sickle cell disease are prone to developing what complication associated with their gallbladder
Gallstones
Due to increase turnover of bilirubin: pigmented gallstones
14 year-old girl with heavy manes you perform labs
PT normal APTT normal factor rate 38% (normal range is 50 to 150%)
risocetin cofactor is 30% (normal 50 to 150)
What is the diagnosis
VW factor type one
A breast-fed two month old passes only soft stool every 5 to 10 days what workup should you initiate
none, reassure
What is the most common esophageal abnormality
Esophageal atresia with distal tracheoesophageal fistula
A patient has preoperative testing prior to tronsillectomy. He recently had a viral illness. His APTT is prolonged period pro time and platelet count to normal
you perform a mixing study, mixing patient's plasma 1:1 with normal plasma APTT of mixed plasma is normal
based on these results is the patient at risk for bleeding
Yes
a mixing study and a PTT normalizes you should suspect a clotting factor efficiency which could put the patient at risk for bleeding
What is the usual treatment for persistent vomiting in five month old with normal growth parameters
Reassurance
Most infant with normal growth and persistent vomiting have infant regurgitation 50% of the infant0 to 3 months vomit once daily and 2/3 of infants 4 to 6 months due to try reassurance first
Acid suppression may have side effects and should be avoided
Four year old swallows drain cleaner and presents with drooling, dysphasia, abdominal
Discomfort
Eventually undergo upper endoscopy
12 to 14 hours after ingestion
<12hrs wont show full extent of injury
after 24hrs risk of perforation increases
Seven month old presented with pallor, poor feeding and growth failure.
Labs show normal WBC and platelets and a macrocytic anemia with reticular cytopenia
careful examination shows left pallet, heart murmur and absent thumbs
what is the diagnosis
diamond blackfan anemia
Microcephaly, pigmented penile lesions, hamartomous intestinal polyps with rectal bleeding and abdominal pain
café au lait spots and lipomas
Which syndrome ?
Bannyan Riley Ruvalcaba Syndrome BRRS
mutations PTEN tumor suppressor
Skin, mucus membranes, breast, thyroid with hyperkeratotic papillomas of lips and tongues what syndrome has multiple hammers of these areas
Cowden Syndrome : hyperleratotic papilomas of lip and tongue are characteristic
again PTEN gene
How much does a RBC transfusion of 10 ML per KG raise hemoglobin
2.5 to 3 g/dl