Gastroenterology Topic Reviews Flashcards

(212 cards)

1
Q

what is Crohn disease?

A

chronic inflammatory bowel disease
involves any region of GI tract from mouth to anus (“skip lesions”)

FYI pathogenesis is environmental exposures and maladaptive response to GI flora leading to dysregulated inflam cascade in genetically susceptible individuals

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2
Q

typical age presentation and GI features of Crohn disease?

A

teenagers

abdo pain

diarrhea (frequently nocturnal, can be bloody)

delayed bone + sexual development (may precede other sx by 1-2 yrs)

perianal: tag, fistula, fissure, abscess

extraintestinal features

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3
Q

Extra-intestinal features of crohn’s?

A

fever, weight loss, fatigue (systemic more common in Crohn than UC)

arthritis

erythema nodosum

oral apththous ulcers

clubbing

episcleritis, uveitis, iritis

renal stones

hypercoagulable

osteopenia

anemia

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4
Q

Extra-intestinal features of ulcerative colitis?

A

Arthralgia/arthritis
Primary sclerosing cholangitis
Autoimmune hepatitis
Pancreatitis
Aphthous stomatitis
Pyoderma gangrenosum
uveitis
Hypercoagulable
anemia

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5
Q

GI symptoms of ulcerative colitis?

A

diarrhea
- often when waking up or at night
-tenesmus, urgency

Hematochezia (95%)
**dramatic toilet bowl of blood

Abdo pain

wt loss (not as much as Crohn), anorexia, fatigue, fever, vomiting

(*normal perianal exam)

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6
Q

Lab features of crohn disease?

A

anemia (sometimes iron def )

inflam markers:
-thrombocytosis, leukocytosis
-elevated CRP and ESR
-stool fecal calprotectin elevated

elevated liver enzymes

low iron, zinc, mag, ca, phos

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7
Q

diagnosis of IBD?

A

colonoscopy and upper scope, with biopsies

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8
Q

Diagnosis of Crohn disease?

A

Upper GI series with small bowel barium follow-through - strictures or fistulae

MRE - to look for small bowel inflammation

Upper and Lower Endoscopy

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9
Q

what must be tested before performing endoscopy in IBD patients?

A

C diff and stool culture to rule out infection

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10
Q

Scope differences between UC and Crohn?

A

Unique Crohn features:
- Strictures, fistulae
-thicken/stenosed terminal ileum + bowel wall
-creeping fat serosa
-cobblestone/deep ulcers of mucosa

Unique Ulcerative Colitis features:
- rectum always involved
- hemorrhagic mucosa (dramatic towel bowl of blood)

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11
Q

(Non-scope) differences between Crohn and UC?

A

Crohn:
- transmural
-granulomas
-erythema nodosum
-oral ulcers
-appear emaciated and more weight loss compared to US (bc terminal ileum often affected in Crohn, which is where we absorb lots of nutrients)

Ulcerative Colitis:
-primary sclerosing cholangitis
-pyoderma gangrenosum
-ankylosing spondylitis
-autoimmune hepatitis
-venous thrombosis

*both have uveitis

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12
Q

Management of Crohn Disease?

A
  1. INDUCE remission
    - Exclusive Enteral Nutrition / Tube Feed
    - Corticosteroids
  2. MAINTAIN remission
    - Tube feeds and dietary therapy*
    - Azathioprine
    -Methotrexate
    -Biologics
    ~NOT steroids in maintenance phase~
  • “Crohn’s Disease Exclusion Diet (CDED)” or “Specific Carbohydrate Diet (SCD)”
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13
Q

Management of Ulcerative Colitis?

A
  1. INDUCE remission
    - Corticosteroids
    -5-ASA
  2. MAINTAIN remission
    -5-ASA
    - Azathioprine
    -Methotrexate
    -Biologics
    ~NOT steroids in maintenance phase~
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14
Q

Complications of long-term TPN

A
  • liver disease - leads to fibrosis (known as intestinal failure associated liver disease)
  • mechanical complications
  • infection (CRBSI) - catheter related blood stream infection
  • metabolic bone disease
  • motility disorders
  • thrombosis related to CVC
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15
Q

What must be done before starting biologics in a IBD patient?

A

*TB must be ruled out + no live vaccinations while on therapy

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16
Q

What is the drug class and side effects of azathioprine in management of IBD?

A

azathioprine = immunosuppressant

Side effects: N/V/D, cytopenias (bone marrow suppression), hepatotoxicity, PANCREATITIS, infections (HSV, HPV)

before starting treatment: TPMT phenotype, CBC and liver enzymes

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17
Q

Complications of Crohn disease?

A
  • intestinal obstruction or perf
    -perianal dz, fistula, abscess
    -colon cancer
    -growth failure
    -bleeding
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18
Q

Complications of Ulcerative Colitis?

A
  • Intractable bleeding
  • Toxic megacolon
  • Persistent pain
  • Repeated sepsis
  • Colonic perforation or stricture
  • Chronic malnutrition, growth faltering, delayed puberty
  • Dysplasia
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19
Q

What are the 4 labs used for investigation of autoimmune hepatitis?

A

ANA
ASMA
Anti-LKM
IgG levels

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20
Q

High risk population for button battery ingestion

A

< 5 years AND > 20 mm

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21
Q

Most critical indication for emergency endoscopy

A

esophageal button battery

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22
Q

Mechanism of injury from button battery ingestion

A

generation of hydroxide radicals in the mucosa causes caustic injury from high pH

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23
Q

Injuries associated with button battery ingestion

A
  1. Tracheosophageal fistula
  2. Esophageal perforation
  3. Esophageal stricture
  4. Vocal cord paralysis from recurrent laryngeal nerve injury
  5. Mediastinitis
  6. Cardiac arrest
  7. Pneumothroax
  8. Aortoenteric fistula
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24
Q

X-ray findings of button battery ingestion

A

AP: double halo
Lateral: step off sign

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25
Initial management of stable, witnessed, button battery ingestion (location unknown)
10 mL (2 tsp) honey every 10 minutes up to 6 doses OR sucralfate suspension 10 mL every 10 minutes up to 3 doses Honey or sucralfate is not routinely recommended for gastric location but can be given until esophageal location is ruled out
26
Factors supporting observation alone following button battery ingestion
1. confirmed short ingestion time ( < 2 hours) 2. battery size < 20 mm 3. absence of clinical symptoms 4. age > 5 years
27
Management of esophageal button battery with active bleeding/clinically unstable
Endoscopic removal with surgery present If there is evidence of esophageal injury start IV antibiotics. Can consider CT angio or MRI to determined proximity of injury to the aorta.
28
Management of esophageal button battery with injury close to the aorta
After endoscopic removal, NPO and antibiotics with serial MRI every 5-7 days until injury seen to recede from aorta
29
Management of esophageal button battery with no significant injury to tissue or proximity to aorta
After endoscopic removal, NPO and IV antibiotics, esophagram to exclude leak before advancing diet
30
Management of button battery ingestion in the gastrum or beyond for low risk ( > 5 years AND/OR BB < 20 mm)
consider outpatient observation with repeat x-ray in 48 hours (BB > 20 mm) or 10-14 days ( BB < 20 mm) if failure to pass in stool
31
Management of button battery ingestion in the gastrum or beyond for high risk ( < 5 years AND BB > 20 mm)
assessment of esophageal injury and endoscopic removal within 24-48 hours If esophageal injury is present make NPO and start IV antibiotics and consider CT or MRI
32
What is SMA syndrome? HINT: Explain the mechanism and most common cause for its occurrence.
SUPERIOR MESENTERIC ARTERY SYNDROME Occurs due to compression of the third duodenal segment by the superior mesenteric artery (SMA) against the abdominal aorta. Typically occurs when there is a reduction in the aortomesenteric (AO) angle <25*. Most commonly occurs due to rapid weight loss resulting mesenteric fat pad depletion.
33
List some common risk factors for developing SMA syndrome
* RAPID WEIGHT LOSS * (anorexia nervosa, malabsorbtive disease, prolonged bed rest, immobilization, AIDS, cancer, paraplegia) * POST SCOLIOSIS OR SPINAL FUSION SURGERY * * EXAGERRATED LUMBAR HYPERLORDOSIS * * POST ABDO SURGERY * (peritoneal adhesions, duodenal malrotation, Ladd's bands, mesenteric tension from ileoanal pouch anastomosis) * HYPERMETABOLISM * (trauma or burns) Other causes: - Congenitally short or hypertrophic ligament of Treitz - Abdominal aortic aneurysm - Extra abdominal compression (e.g. body cast)
34
How does SMA Syndrome present? HINT: List the common symptoms/signs, as well as aggravating and alleviating factors
- Intermittent epigastric pain - Nausea / bilious vomiting - Anorexia + Early satiety - Weight loss - Dilation of stomach - Aggravating factors: Symptoms WORSEN POST-PRANDIALLY and when SUPINE - Alleviating Factors: Symptoms alleviated with the release of the angle (ex: prone knee to the chest or left lateral decubitus position)
35
How do you diagnose SMA Syndrome?
UPPER GI SERIES = Gold Standard Dilated stomach & proximal duodenum. Delay in passage of contrast and vertical cut-off of air through 3rd portion of duodenum. CT ABDO (Can also diagnose SMA): - Normal = Aortomesenteric artery (AO) angle of 38-65* and a distance of 10-28mm - SMA Diagnosis = AO angle <25* and aortomesenteric distance of <8mm. ABDO XR (NOT DIAGNOSTIC of SMA Syn): May show dilated stomach and proximal duodenum, decreased distal bowel gas.
36
What is the management for SMA syndrome? HINT: Conservative + Invasive
CONSERVATIVE: - FLUID & LYTES correction - NG INSERTION (gastric decompression) - NUTRITIONAL REHAB: TPN / NJ feeds (goal to increase mesenteric fat pad + increase the AO angle) - POSTURE THERAPY (Relieve obstruction by laying in left lateral decubitus position or prone with knees to chest) SURGICAL: (Gastrojejunostomy vs Strong procedure (ligament of Treitz division) vs Duodenojejunostomy)
37
what is celiac disease?
T cell Immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals
38
Which other conditions should prompt you to test for celiac?
Type 1 diabetes mellitus Autoimmune thyroiditis Down syndrome Turner syndrome *Williams syndrome *Selective IgA deficiency First-degree relatives with celiac disease
39
Presentation of celiac disease?
*Failure to thrive (falling off growth curve, esp around 6-24 mo); wt loss *Iron-deficiency anemia resistant to oral iron GI Sx: -chronic or recurrent diarrhea, constipation -distended abdomen (celiac belly); abdo pain -anorexia; vomiting, irritability Non-GI Sx: -Dermatitis herpetiformis -Dental enamel erosions -Osteopenia/osteoporosis -Short stature -Delayed puberty -Arthritis
40
What rash is associated with celiac disease?
dermatitis herpetiformis (see RC photo) *Severely pruritic Vesicles and papules bilateral/symmetric elbows, knees, buttocks Skin biopsy = Granular IgA deposit Tx with gluten free diet and dapsone
41
Diagnosis of celiac disease?
Elevated Anti-Tissue Transglutaminase IgA (TTG-IgA) with normal IgA (if low total IgA, perform TTG IgG, EMA or DGP) PLUS small intestinal biopsy (Non-biopsy dx: TTG IgA >10x ULN + positive EMA + positive HLA DQ2/8 )
42
What blood test do we use to screen for celiac disease in <2yr olds?
Deamidated gliadin peptide (TTG IgA is unreliable if <2yrs)
43
What are some reasons why a patient's TTG IgA test for celiac may be falsely negative?
< 2 y/o immunosuppressant low gluten diet Protein Losing Enteropathy (PLE) Dermatitis herpetiformis
44
Treatment and follow up for celiac disease?
gluten free diet lifelong repeat TTG 6mo after GF diet (measure compliance), then yearly TTG (monitoring for contamination with gluten)
45
consequences of not treating celiac disease with gluten free diet?
Mortality 2-3x higher than general population, mostly due to GI malignancies Anemia Low folate, B12, B3, ADEK, thiamine, zinc osteopenia poor growth essential fatty acid deficiency
46
Key Features of Peutz-Jeghers syndrome (PJS)?
mucocutaneous freckling (hyperpigmented macules in mouth) GI hamartomatous polyposis - polyps may present with GI bleeding or as lead point in intussusception presents in first 10 years of life
47
genetics of Peutz-Jeghers syndrome (PJS)?
Autosomal Dominant
48
What type of cancer are Peutz-Jeghers syndrome (PJS) pts at risk for?
colon cancer breast and reproductive tumours 8yrs + begin screening for colon cancer with MRE examine for sex cord tumours (Large-cell calcifying Sertoli cell tumor of the testes -> feminizing manifestations)
49
differential of dysphagia related to swallowing liquids or solids or both
Oropharyngeal dysphagia - immediate difficulty swallowing - Neuromuscular - MG, CNS tumours, MS, Polymyositis - Structural - Tumours, foreign body, diverticulum Esophageal dysphagia - delayed difficulty (food getting stuck) - Neuromuscular (solids and liquids) : intermittent (esophageal spasm), progressive (scleroderma, achlasia, diabetic neuropathy) - Structural (solids only) - intermittent (EoE, schatzki ring, esophageal web) - progressive - Reflux structure, esophageal cancer
50
What is eosinophilic esophagitis
infiltration of the esophgeal epithelium by eiosinophils - >15/hpf
51
Presentation of EoE by age
infants and toddlers - vomiting, feeding problems, poor weight gain Older children and teens - solid food dysphagia with food impacts, chest/epigastric pain Commonly have atopy.
52
Diagnostic criteria for EoE
- Symptoms related to esophageal dysfunction. - Eosinophil-predominant inflammation on esophageal biopsy, \\≥15 eosinophils per HPF - Exclusion of other causes
53
Investigations for EoE findings
Upper endoscopy - Edema + Rings + Exudates + Furrows + Strictures - Histology shows eosinophilia (>15 eos/HPF) +/- Labs show peripheral eosinophilia, elevated IgE level +/- UGI series: (useful for ruling out other DDx, to see stricture/caliber/length) +/- Intraesophageal pH testing (useful for ruling out other DDx like GER)
54
Management of EoE
- Initial treatment high dose PPI x 8 weeks then repeat EGD. - If repeat EGD on PPI shows >15 eos/HPF then its EoE. If <15 eos/HPF then its PPI-REE/GERD/NERD Dietary management (Successful in 70-98%) Elimination of IgE mediated allergens + 2-6 food elimination diet (dairy, gluten/wheat, eggs, soy, peanuts/tree nuts, fish/seafood) or use of amino-acid based formula - Corticosteroids (induces remission in 90%) fluticasone (without spacer) or budesonide (suspension) for ~6-8 weeks = Systemic: severe dysphagia causing dehydration and weight loss (limited use in practice) Biologics = Dupilumab +/- Dilatation (last resort)
55
What is NAFLD/MALSD?
chronic liver disease resulting from excessive fat accumulation in the liver
56
Screening testing for NAFLD/MASLD
ALT If ALT > 2x ULN (52 M; 44 F) for >3mo, evaluate for NAFLD or chronic hepatitis If ALT >80 -> increased clinical concern and timely evaluation If normal -> repeat q2-3y if still has RFs
57
Cardiometabolic risk factors for NAFLD/MASLD
insulin resistance, prediabetes, diabetes, dyslipidemia, central adiposity, family history
58
Diagnostic approach for NAFLD/MASLD
- diagnosis of exclusion requiring presence of hepatic steatosis and exclusion of other causes besides NAFLD. - liver biopsy is gold standard - u/s not able to differentiate steatosis from NASH
59
Management of picky eating in children
Behavioural modification at home for parents - Parents should provide a predictable eating schedule, with 3 meals and 2 snacks per day, allowing the child to choose how much to eat in order to avoid power struggles and to allow the child to learn to respond to satiety cues
60
Somatic Symptom Disorders (SSDs) are defined by Nelsons as 'conditions in which the physical symptoms are unexplained or for which the patient’s response to the underlying medical condition is disproportionate and debilitating.' As per the DSM, List the criteria for SSDs:
SSD (DSM) Definition: A. ≥ 1 somatic symptoms that are distressing or result in SIGNIFICANT DISRUPTION of DAILY LIFE. B. EXCESSIVE THOUGHTS, feelings, or behaviors related to the somatic symptoms or associated health concerns, as manifested by ≥ 1 of the following: - Disproportionate and persistent thoughts about the seriousness of one’s symptoms. - Persistent high level of anxiety about health and symptoms. - Excessive time and energy devoted to these symptoms or health concerns. C. Although any one somatic symptom may not be continuously present, the state of being symptomatic is persistent (typically >6 mo).
61
INFANT Rome IV Criteria for 'Infant Regurgitation' HINT: 1) Regurgitation ≥ *** x / day for ≥ *** weeks 2) No ***
Must include both of following in otherwise healthy infants aged 3-12mo: 1) Regurgitation ≥ 2x / day for ≥ 3 weeks 2) No retching, hematemesis, aspiration, apnea, failure to thrive, feeding or swallowing difficulties, or abnormal posturing
62
INFANT / TODDLER ROME IV Criteria for 'Rumination Syndrome'
Must include all of the following for ≥ 2 months: 1) Repetitive contractions of the abdominal muscles, diaphragm, and tongue 2) Effortless regurgitation of gastric contents, which are either expelled from the mouth or rechewed and reswallowed 3) ≥ 3 of the following: - Onset between 3 - 8 mo - Does not respond to management for GERD and regurgitation - Unaccompanied by signs of distress - Does not occur during sleep and when the infant is interacting with individuals in the environment
63
Definition of neonatal cholestasis
Conjugated hyperbili is >17 mmol/L or 20% total
64
INFANT / TODDLER ROME IV Criteria for 'Infantile CVS':
Must include ALL of the following: 1) ≥ 2 periods of unremitting paroxysmal vomiting with or without retching, lasting hours to days within a 6-month period 2) Episodes are stereotypical in each patient 3) Episodes are separated by weeks to months with return to baseline health between episodes of vomiting
65
INFANT/TODDLER ROME IV Criteria for 'Infantile Colic':
Must include ALL of the following: 1) An infant who is < 5 months of age when the symptoms start and stop 2) Recurrent and prolonged periods of infant crying, fussing, or irritability reported by caregivers that occur without obvious cause and cannot be prevented or resolved by caregivers 3) No evidence of infant FTT, fever, or illness 4) Caregiver reports crying/fussing for > 3 hours / day or > 3 days / week. 5) Total daily crying is confirmed to be > 3 hours when measured by ≥ 1 prospectively kept 24-hour diary.
66
INFANT / TODDLER ROME IV Criteria for 'Functional Diarrhea':
Must include ALL of the following: 1) DAILY painless, recurrent passage of ≥ 4 large, unformed stools 2) Symptoms last > 4 weeks 3) Onset between 6 - 60 months of age 4) No FTT if caloric intake is adequate
67
INFANT ROME IV Criteria for 'Infant Dyschezia':
Must occur in an infant < 9 months of age: 1) ≥ 10 minutes of straining and crying before successful or unsuccessful passage of soft stools 2) No other health problems
68
TODDLER ROME IV Criteria for 'Functional Constipation' for children <4 YEARS of age:
Must include 1 month of ≥ 2 of the following in infants up to 4 YEARS of age: - ≤ 2 defecations / week - Hx of excessive stool retention - Hx of painful or hard bowel movements - Hx of large diameter stools - Presence of a large fecal mass in the rectum --- ** In toilet trained children, the following additional criteria may be used: - ≥ 1 episode / week of incontinence after the acquisition of toileting skills - History of large diameter stools which may obstruct the toilet
69
What are some common triggers for Cyclic Vomiting Syndrome (CVS)?
Excitement Illness / Infection Stress 75% of children will have episodes that start on waking in the morning
70
CHILD / TEEN ROME IV Criteria for 'CVS':
Must include ALL of the following: 1) ≥ 2 periods of intense, unremitting nausea and paroxysmal vomiting, lasting hours to days within a 6mo period 2) Episodes are STEREOTYPICAL in each patient 3) Episodes are SEPARATED by WEEKS to MONTHS with return to baseline health between episodes 4) After appropriate evaluation, the symptoms cannot be attributed to another medical condition **Not part of the diagnostic criteria, but vomiting episodes are more common in the morning. Can be associated with epigastric/abdo pain, diarrhea, fever, autonomic instability. **
71
What are some lifestyle management recommendations for Cyclic Vomiting Syndrome (CVS) when they are well between episodes?
- Reassurance - AVOID TRIGGERS (Ex: Avoid excessive energy output, poor sleeps, fasting, trigger foods) - SUPPLEMENTAL CARBS for fasting episodes (pre-exertion, pre-bed) - MIGRAINE HEADACHE lifestyle modifications (Regular aerobic exercise, Regular meal schedules, Caffeine avoidance)
72
A child is diagnosed with Cyclic Vomiting Syndrome (CVS) Should you refer? What are some prophylactic therapies that you could recommend when well (between episodes)?
1. Refer to GI (**Royal College Answer**) 2. Lifestyle modifications (Avoid triggers, supplemental carbs when fasting, regular aerobic exercise/meals, avoid caffeine) 3. Prophylactic Therapy: Children ≤5yr: - Antihistamine: Prophylactic CYPROHEPTADINE (1st line) - Beta Blocker: Prophylactic Propranolol (2nd line) Children >5yrs: - TCA: Prophylactic AMITRIPTYLINE (1st line) - Beta Blocker: Prophylactic Propranolol (2nd line)
73
A child has a diagnosis of Cyclic Vomiting Syndrome (CVS), they present to ED with an episode. What is the recommended management? HINT: Break it up acute management into 3 phases of acute CVS episode - Prodromal (phase 1) - Vomiting (phase 2) - Recovery (phase 3)
ACUTE CVS TREATMENT (based on phase): Phase 1: Prodromal - NSAIDs - ABORTIVE THERAPY ASAP in prodrome or vomiting phase may terminate the attack. Children >12 years SUMATRIPTAN. Phase 2: Vomiting 1) Supportive Care - Quiet, dark, less stimulating environment - VS q4hr 2) REHYDRATION: - Fluid Bolus - 0.9% NS 10-20ml/kg - Maintenance IVF with Dextrose - D10 + 0.45NS + KCL x 1.5 maintenance - Allow PO fluid intake if tolerated 3) ANTIEMETIC: - Ondansetron q6h 4) SEDATIVES: - Lorazepam IV q6h - Diphenhydramine IV q6h 5) ANALGESICS: - Ketorolac IV q6h Phase 3: Recovery - Patient becomes hungry and slowly advances PO intake
74
What condition are children with Cyclic Vomiting Syndrome (CVS) at much higher risk of developing in their teens?
Migraines
75
CHILD / TEEN ROME IV Criteria for 'Functional Nausea Syndrome':
Must include ALL of the following: 1) Bothersome nausea as the predominant symptom, occurring ≥ 2x / week and generally not related to meals 2) Not consistently associated with vomiting 3) After appropriate evaluation, the nausea cannot be fully explained by another medical condition *Criteria fulfilled for ≥ 2 months prior to diagnosis
76
CHILD / TEEN ROME IV Criteria for 'Functional Vomiting Syndrome':
Must include ALL of the following: 1) On average, ≥ 1 episodes of vomiting / week 2) ABSENCE OF SELF-INDUCED VOMITING or criteria for an eating disorder or rumination 3) After appropriate evaluation, the vomiting cannot be fully explained by another medical condition *Criteria fulfilled for ≥ 2 months prior to diagnosis
77
CHILD / TEEN Rome IV Criteria for 'Rumination Syndrome'
Must include ALL of the following: 1) Repeated regurgitation and rechewing or expulsion of food that: - Begins soon after ingestion of a meal - Does not occur during sleep 2) Not preceded by retching 3) After appropriate evaluation, symptoms cannot be fully explained by another medical condition. 4) An eating disorder must be ruled out. *Criteria fulfilled for ≥ 2 MONTHS prior to diagnosis
78
Associated symptoms of rumination syndrome
abdominal pain, constipation, nausea, diarrhea, bloating, dental problems, weight loss
79
treatment of rumination syndrome?
Behavioural = reinforce correct eating behavior while minimizing attention to rumination -Diaphragmatic breathing -Chewing gum postprandially
80
CHILD / TEEN ROME IV Criteria for 'Aerophagia':
Must include ALL of the following: 1) Excessive air swallowing 2) Abdominal distention due to intraluminal air which increases during the day 3) Repetitive belching and/or increased flatus 4) After appropriate evaluation, symptoms cannot be fully explained by another medical condition *Criteria fulfilled for ≥ 2 months prior to diagnosis
81
CHILD / TEEN ROME IV Criteria for 'Functional Dyspepsia':
Must include ≥ 1 of the following bothersome symptoms ≥ 4 days / month for ≥ 2 months prior to diagnosis: - Postprandial fullness - Early satiation - Epigastric pain or burning not associated with defecation - After appropriate evaluation, symptoms cannot be fully explained by another medical condition
82
CHILD / TEEN ROME IV Criteria for 'IBS':
Abdominal pain ≥ 4 days / month over ≥ 2 months associated with ≥ 1 of the following: - Related to defecation - A change in frequency of stool - A change in form (appearance) of stool - In children with abdominal pain and constipation, the pain does not resolve with resolution of the constipation - After appropriate evaluation, symptoms cannot be fully explained by another medical condition *Criteria fulfilled for ≥ 2 months prior to diagnosis
83
CHILD / TEEN ROME IV Criteria for 'Abdominal Migraine':
Must include ALL of the following occurring ≥ 2x: 1) Paroxysmal episodes of intense, acute periumbilical, midline or diffuse abdominal pain lasting ≥ 1 hour or more (should be the most severe and distressing symptom) 2) Episodes are separated by weeks to months 3) The PAIN is INCAPACITATING and interferes with normal activities 4) STEREOTYPICAL pattern and symptoms in the individual patient 5) The pain is associated with ≥ 2 of the following: - Anorexia - Nausea - Vomiting - Headache - Photophobia - Pallor 6) After appropriate evaluation, the symptoms cannot be fully explained by another medical condition *Criteria fulfilled for ≥ 6 months prior to diagnosis
84
What is the management for Abdominal migraine? HINT: Age <5yrs: 1st & 2nd line Age ≥ 5 yr: 1st & 2nd line
Age <5yrs: - Cyproheptadine (1st line) - Propranolol (2nd line) ≥ 5 yrs: - Amitriptyline (1st line) - Propranolol (2nd line)
85
CHILD / TEEN ROME IV Criteria for 'Functional Abdominal Pain - not otherwise specified':
Must be fulfilled ≥ 4 days / month AND include ALL of the following: 1) Episodic or continuous abdominal pain that does not occur solely during physiologic events (e.g., eating, menses) 2) Insufficient criteria for IBS, functional dyspepsia, or abdominal migraine 3) After appropriate evaluation, the abdominal pain cannot be fully explained by another medical condition *Criteria fulfilled for ≥ 2 months prior to diagnosis
86
CHILD / TEEN ROME IV Criteria for 'Functional Constipation' in child ≥4yrs:
Must include ≥ 2 of the following occurring ≥ 1x / week for a ≥ 1 month with insufficient criteria for a diagnosis of IBS: - ≤ 2 DEFECATIONS in the toilet per week in a child of a developmental age of ≥ 4 years - ≥ 1 episode of FECAL INCONTINENCE incontinence per week - History of RETENTIVE POSTURING or excessive volitional stool retention - History of PAINFUL or HARD BOWEL MOVEMENTS - Presence of a LARGE FECAL MASS in the rectum - History of LARGE DIAMETER STOOLS which can obstruct the toilet - After appropriate evaluation, symptoms cannot be fully explained by another medical condition
87
CHILD / TEEN ROME IV Criteria for 'Nonretentive Fecal Incontinence':
Must include ≥ 1-month history in a child with a developmental age ≥ 4 years of ALL of the following: 1) DEFECATION in INAPPROPRIATE PLACES to the sociocultural context 2) NO evidence of FECAL RETENTION 3) After appropriate evaluation, the fecal incontinence cannot be explained by another medical condition
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What are the most common milk proteins responsible for CMPA reactions?
1. CASEIN 2. Whey, specifically the BETA-LACTOGLOBULIN component of Whey. Casein and beta-lactoglobulin are the two most allergenic and heat-resistant proteins
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How would you classify the different types of Adverse Reactions to Cow’s Milk? HINT: Think about IgE and non-IgE mediated processes
IgE-mediated (IMMEDIATE): - Anaphylactic reaction involving multiple systems (urticaria +/- angioedema +/- vomiting +/- wheezing +/- hypotension) Non-IgE/cell-mediated (DELAYED): - Food-specific IgE is typically absent + GI reaction after exposure to food is delayed +/- may have chronic presentation - Types = FPIAP, FPE, FPIES Mixed IgE & non-IgE/cell-mediated (DELAYED): - Symptoms are delayed and depend on extent of eosinophilic infiltration of affected organs - Types = Eosinophilic esophagitis (EoE), Allergic eosinophilic gastrointestinal diseases (EGIDs)
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What is the pathophysiology thought to be behind FPIAP (Food Protein Induced Allergic Proctocolitis)
Exposure of gut mucosa to broken down milk (or other pro-allergic) proteins → localized inflammation of distal colon → dense eosinophilic infiltration of rectosigmoid mucosa.
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How does FPIAP (Food Protein Induced Allergic Proctocolitis) present? HINT: - Age at onset *** - Clinical Features *** - Exam: *** - Resolution of Symptoms: ***
Age of Onset: - First 6mo of life (usually first1-4 weeks of life) Clinical Features: - Intermittent, slow-in-onset HEMATOCHEZIA in otherwise healthy growing infant - No emesis, no diarrhea, no FTT Exam: - Normal physical exam Resolution of symptoms: - Within 3 days of removing trigger protein, complete resolution after 2 weeks.
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How do you make the diagnosis of FPIAP (Food Protein Induced Allergic Proctocolitis)? HINT: List any investigations, bloodwork, testing imaging that would help diagnose.
FPIAP is a CLINICAL DIAGNOSIS with resolution of symptoms after removal of trigger food (within 3days - 2weeks). NO further investigations are required. --- - Bloodwork: NOT REQUIRED! (usually normal, can have anemia, peripheral eosinophilia, hypoalbuminemia) - Food-specific IgE tests: NOT REQUIRED! Often negative. - Food-specific RAST: NOT REQUIRED! Often negative. - Oral Food Challenge (OFC): NOT REQUIRED! - Colonoscopy + Biopsy: NOT REQUIRED!
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In a breastfed infant diagnosed with FPIAP (Food Protein Induced Allergic Proctocolitis), what is the management?
GOAL: Elimination of trigger food in maternal or infant diet 1. Elimination of maternal diet cows milk +/- soy (+/- egg +/- corn) 2. RD involvement (for baby and mom) 3. Maternal Calcium (500mg BID) and Vit D supplementation 4. If symptoms persist then can transition to extensively hydrolyzed formula (<10% will require elemental formula) 5. Allergist referral is NOT usually required unless trigger not identified.
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Prognosis for FPIAP (Food Protein Induced Allergic Proctocolitis) HINT: - Short term Prognosis: How quickly do symptoms resolve after elimination of trigger protein from diet? - Longterm Prognosis: How long until infants achieve tolerance to the protein?
Resolution of Initial Symptoms: - Within 3 DAYS (max 2weeks) of removing offending protein from maternal diet or changing to hydrolyzed formula. Achieve Tolerance to Trigger Protein: - Typically achieve tolerance by 12mo of life. - Re-challenge: Parents can trial challenge with fresh pasteurized cows milk at 12mo AT HOME.
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How does FPE (Food Protein-Induced Enteropathy) present? HINT: - Age at onset *** - Clinical Features *** - Exam: *** - Resolution of Symptoms: ***
Age of Onset: - Early infancy Clinical Features: - Diarrhea (in infancy) - FTT - Steatorrhea - Emesis - Abdominal distension - Lack of acute symptoms (unlike FPIES) Exam: - Exam consistent with FTT Resolution of symptoms: - Within 2-4 weeks of removing trigger protein.
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How do you make the diagnosis of FPE (Food Protein-Induced Enteropathy)? HINT: List any investigations, bloodwork, testing imaging that would help diagnose.
Diagnosis requires BLOODWORK + ENDOSCOPY / gastroscopy with BIOPSY ---- Bloodwork: Shows peripheral eosinophilia, fat soluble vitamin deficiency, anemia, hypoproteinemia, prolonged coagulation time Endoscopy (jejunal biopsy): VILLOUS ATROPHY + CRYPT HYPERPLASIA Stool tests: fat malabsorption
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In a breastfed infant diagnosed with FPE (Food Protein-Induced Enteropathy), what is the management?
GOAL: Elimination of trigger food in maternal or infant diet 1. Elimination of maternal / infant diet cows milk AND soy (+/- egg +/- corn) 2. RD involvement (for baby and mom) + Monitor growth / nutrition carefully 3. Maternal Calcium (500mg BID) and Vit D supplementation if breastfeeding 4. If symptoms persist then can transition to extensively hydrolyzed FORMULA or elemental formula 5. Allergist referral is NOT usually required unless trigger NOT identified.
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Prognosis for FPE (Food Protein-Induced Enteropathy) HINT: - Short term Prognosis: How quickly do symptoms resolve after elimination of trigger protein from diet? - Longterm Prognosis: How long until infants achieve tolerance to the protein?
Resolution of Initial Symptoms: - Within 2-4 weeks of removing offending protein from maternal diet or changing to hydrolyzed formula (longer than FPIAP and FPIES). Achieve Tolerance to Trigger Protein: - Typically achieve tolerance by 12-18mo of life. - Re-challenge: Parents can trial challenge with fresh pasteurized cows milk at 12mo AT HOME.
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How does Acute FPIES (Food Protein-Induced Enterocolitis Syndrome) present? HINT: - Age at onset *** - Clinical Features *** - Resolution of Symptoms: ***
Age of Onset: - 2-7 MONTHS of life (when introducing solids into diet) Clinical Features: - Onset of symptoms 1-4hrs after ingestion of trigger protein - PROFUSE REPETITIVE VOMITING - PALLOR - LETHARGY - Watery or bloody diarrhea - UNWELL APPEARING (dehydration, hypovolemic shock, hypothermia, hypotension, aLOC, hypotonia, metabolic acidosis, methemoglobinemia) - Lack of cutaneous or resp symptoms of anaphylaxis Resolution of symptoms: - Within 24hrs of removing trigger protein.
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What are the most common trigger food proteins for FPIAP, FPE, or FPIES?
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How do you make the diagnosis of FPIES (Food Protein-Induced Enterocolitis Syndrome)? HINT: List any investigations, bloodwork, testing imaging that would help diagnose.
FPIES is a CLINICAL DIAGNOSIS (1x major + ≥3x minor criteria) with resolution of symptoms after removal of trigger food (typically within 24hrs). NO further investigations are required. Technically OFC (Oral Food Challenge) is GOLD STANDARD. But OFC only indicated if trigger food protein unclear or atypical symptom time course. --- - Bloodwork: NOT REQUIRED! (In acute episode can show Anemia, Leukocytosis with Neutrophilia, peripheral Eosinophilia, Thrombocytosis, Hypoalbuminemia, Non-AG Metabolic Acidosis, Methemoglobinemia) - Food-specific IgE tests: NOT REQUIRED! Often negative. - Food-specific RAST: NOT REQUIRED! Often negative. - Colonoscopy + Biopsy: NOT REQUIRED!
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Infant presents with acute FPIES (Food Protein-Induced Enterocolitis Syndrome) and looks acutely unwell, dehydrated, and hypotensive - what is the management?
1. Rehydration (Bolus + Maintenance IVF) 2. Antiemetic (Ondansetron) 3. +/- IV Steroids (rarely in severe cases)
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Infant is recovering from acute episode deemed likely secondary to acute FPIES (Food Protein-Induced Enterocolitis Syndrome) - what is the management?
GOAL: Elimination of trigger food in maternal or infant diet 1. Elimination of cows milk +/- soy (or whatever the trigger protein is deemed to be) from infant diet 2. RD involvement 3. If symptoms persist then can transition to extensively hydrolyzed formula (<10% will require elemental formula) 5. Allergist referral REQUIRED - as OFC (Oral Food Challenge) to be done by allergist / hospital at 12mo to test tolerance.
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Eventually children will achieve tolerance and "grow-out" of Non-IgE mediated reactions, at this point their immune system must be "re-challenged" to assess if they have achieved tolerance to the trigger protein. Describe the "re-challenge procedure" for FPIAP vs FPE vs FPIES. HINT: At what age do you attempt a re-challenge? Can they re-challenge at home or in allergist/hospital setting? Do they need an Oral Food Challenge (OFC)?
FPIAP - Re-Challenge Procedure: - At 12 MONTHS of life tolerance to trigger protein is usually achieved, parents can trial challenge with fresh pasteurized COWS MILK at 12mo AT HOME FPE - Re-Challenge Procedure: - At 1-2 YEARS of life tolerance to trigger protein is usually achieved, parents can trial challenge with fresh pasteurized COWS MILK at 12mo AT HOME FPIAP - Re-Challenge Procedure: - At 12-18 MONTHS of life tolerance to trigger protein is usually achieved, an OFC with trigger protein should occur with allergist / hospital supervision
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Differential for neonatal cholestasis
UNCONJUGATED - Physiologic - Hemolytic – immune (ABO etc), non-immune (sepsis/DIC, Hbopathy, ezymopathy (G6PD), membranopathy (HS)) - Non-hemolytic – physiologic, breastmilk, bruising/cephalohematoma, polcythemia - Clearance - Breastmilk jaundice, Gilbert, Cirgler-Najjar - Increased enterohepatic circulation - GI obstruction, dehydration/breastfeeding jaundice CONJUGATED – Hepatocellular (ALT should be high) - Medications, TPN - Infection – Sepsis, TORCH, viral hepatitis, UTI - Metabolic – many IEM (galactosemia, tyrosinemia), A1AT, hemochromatosis, Wilson’s, hypothyroidism - Vascular/ischemic – HF, shock, hypoxia, Budd chiari - Endocrine: panhypotpit, hypothyroid Idiopathic - Mass/Neoplastic – hepatoblastoma CONJUGATED - Biliary/Obstructive – small intrahepatic or large extrahepatic - Mass - Duct plugging – CF, inspissated bile syndrome - Ductal paucity – Alagille - Ductal plate malformation – AR-PCKD - Biliary atresia!! - Choledochal cyst - Biliary sludge, gallstone
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Pathophysiology of choledochal cyst
Rare congenital dilatation of the biliary tract that can cause progressive biliary obstruction and cirrhosis Most common type is type 1 (dilation of CBD)
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Clinical presentation of choledochal cyst
abdominal pain, jaundice and a palpable mass - usually present before 10 years old Can present with Charcot's triad - abdominal RUQ pain, fever, jaundice
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Treatment of choledochal cyst
Roux-en-Y choledochojejunostomy excision of cyst
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complications of choledochal cyst
Malignancy (cholangiocarcinoma), cholangitis, pancreatitis, cholelithiasis, post-op stricture at anastomosis
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What does fecal calprotectin reveal?
shows neutrophilic intestinal inflammation
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normal and abnormal values of fecal calprotectin
When normal (<50 µg/g in kids), IBD can be ruled out with confidence Refer for endoscopy if >250
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What is the diagnostic role of fecal calprotectin
Distinguishing functional GI illness from IBD (active neutrophilic inflammation)
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Indications for G-tube in children
Overall when oral feeding is UNSAFE, INADEQUATE or INEFFICIENT Neurologically impaired Poor oral intake and weight gain despite optimizing calories Recurrent aspiration or prolonged feeding times GERD, if it leads to insufficient oral intake Dysmotility despite medical treatment Expected prolonged need for NG feeds (more than 3-6 months)
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Clinical presentation of peptic ulcer disease
Hematemesis or melena Epigastric dull pain (relieved by eating) and nausea Feeding difficulties Vomiting
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Diagnostic assessment of Peptic ulcer disease
Upper endoscopy with biopsies from esophagus, stomach and duodenum, H.pylori.
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What is H.Pylori disease and what are red flags associated with presentation?
gram-negative, S-shaped rod transmitted fecal-oral or waterborne Majority are asymptomatic but can present with epigastric abdo pain; red flags are occult blood in stool, weight loss, vomiting, nighttime awakening
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False negative results on EGD for H. Pylori
False negs if on acid suppressant (PPI), antibiotics or GI bleed
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Role of non-invasive tests for H.Pylori
Urea breath test or stool antigen (better for kids <6yo) ONLY for confirmation of eradication of disease
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Treatment of H.pylori disease
PPI-Amoxicillin + Clarithromycin x14d If resistance to Clarithromycin consider metronidazole or bismuth based
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Organic causes of constipation
HYPERcalcemia HYPOkalemia Celiac disease Lead poisoning Mercury poisoning Hypothyroidism Ulcerative colitis Medications CNS disorders: CP, NTD, Hirschsprung’s Lactose intolerance Hypothyroidism
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Red flags with constipation
abdominal distension, vomiting, fever, anorexia, weight loss, poor weight gain, blood in stool
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Rome IV Criteria for constipation (children >/= 4 years old)
Must include ≥ 2 of the following occurring ≥ 1x / week for a ≥ 1 month with insufficient criteria for a diagnosis of IBS: ≤ 2 defecations in the toilet per week in a child of a developmental age of ≥ 4 years ≥ 1 episode of fecal incontinence per week - History of retentive posturing or excessive volitional stool retention - History of painful or hard bowel movements - Presence of a large fecal mass in the rectum - History of large diameter stools which can obstruct the toilet - After appropriate evaluation, symptoms cannot be fully explained by another medical condition
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Work up for organic constipation
Clinical dx based on history and physical Look for alarm signs P/E: DRE, look for spinal dysraphism, lower extremity reflexes AXR not routinely recommended unless to R/O fecal impaction in a child who is otherwise difficult to examine W/u if red flags: Extended lytes Celiac screen TSH Spinal imaging Barium enema (to screen for Hirscsprungs), rectal biopsy (dx test for Hirschsprungs)
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Management of constipation
- education of mechanism - behavioural modificaiton (timed toileting, remove punishments, physical activity, diary stool frequency) - dietary modifications with higher fibre and water intake - fecal disimpaction: PEG 3350 1-1.5g/kg/day x3 days with maintenance dosing afterwards x6 months MINIMUM
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Definition of pediatric acute liver failure
No known evidence of chronic liver dz Biochemical evidence of injury Hepatic-based coagulopathy (threshold changes +/- HE) INR >1.5 not corrected by Vit K with Hepatic Encephalopathy (HE) INR > 2 without HE
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Etiologies of pediatric acute liver failure
Drugs: Acetaminophen overdose Anticonvulsants Ecstasy Organic mushrooms INH Metabolic Wilson’s disease Galactosemia Tyrosinemia Fatty acid oxidation disorder Mitochondrial Alpha-1 antitrypsin deficiency Neonatal hemochromatosis Immune: autoimmune hepatitis Infections: hepatitis A, B, E; HSV, EBV, Enterovirus, adenovirus, parvo B19, coxsackie virus Ischemic: shock, Budd Chiari, cardiac HLH Indeterminate/Idiopathic (50%)
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Clinical presentation of pediatric acute liver failure
Anorexia, nausea, vomiting Fatigue, malaise, lethargy, irritability Jaundice (+ dark urine, pale stools, pruritus) Bleeding (varices, GI tract) Ascites (22%), hepatomegaly, splenomegaly Hypoglycemia, lactic acidosis, coagulopathy Pancreatitis, ARDS AKI
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Stages of hepatic encephalopathy
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Work up for pALF
Coagulopathy: prolonged INR, PTT Fibrinogen (low) Factor V and VII (low) Bilirubin, AST, ALT, alk phos, GGT High Ammonia Glucose (low) CBC, urea, creat, blood gas, lytes, extended lytes Viral serology: Hepatitis A, B, C, EBV, CMV AIH: Immunoglobulins, anti-LKM, anti-SMA, ANA Wilson: Serum copper, ceruloplasmin, 24-h urinary Cu Serum α-1-AT Ferritin Liver imaging – AUS + Doppler Liver biopsy (later investigation if confirmed or unknown etiology post Ix)
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Wilson's Disease inheritance pattern
Autosomal recessive, gene ATP7B found on Chromosome 13 (13q14.3) It is important to screen all first degree relative
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Laboratory findings associated with Wilsons Disease (5)
1. Elevated urine copper 2. Low ceruloplasmin 3. Mild elevation of transaminases, low alk phos 4. Hemolytic anemia (DAT negative) 5. Conjugated hyperbilirubinemia
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Clinical manifestations of Wilsons Disease
Kayser-Fleischer rings on slit-lamp exam Neurologic derangement
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Management of Wilsons Disease
Copper chelators - D-penicillamine and Trientene Zinc - decreased intestinal absorption of copper Avoid dietary copper
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what is approrpiate acute pain management in children
OTC analgesics can be used as monotherapy for mild to moderate pain or as co-therapy for moderate to severe pain Ibuprofen is more effective than acetaminophen for the treatment of childrens pain IN fentanyl is an effective analgesic for moderate to severe pain with no IV access. IV morphine is common once access is established. Codeine should never be used for acute pain
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chronic pain definition
recurrent or persistent pain for > 3 months
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chronic pain management
psychological, physical, occupational and pharmacological therapy combined pharmacologic: antidepressants (eg amitrypitilne) or anti-epileptics (eg gabapentin, pregabalin)
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ROME IV Criteria for Functional Constipation for < 4 years
Must include 1 month of ≥ 2 of the following: - ≤ 2 defecations / week - History of excessive stool retention - History of painful or hard bowel movements - History of large diameter stools - Presence of a large fecal mass in the rectum In toilet trained children, the following additional criteria may be used: - ≥ 1 episode / week of incontinence after the acquisition of toileting skills - History of large diameter stools which may obstruct the toilet
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ROME IV Criteria for Functional Constipation for > 4 years
>2 of the following occurring at least once per week for a minimum of 1 month - ≤ 2 defecations / week - ≥ 1 episode / week of incontinence - history of retentive posturing - history of painful or hard bowel movements - presence of large fecal mass in the rectum - history of large-diameter stools that can obstruct the toilet
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Constipation red flags (7)
1. systemic symptoms such as fever, abdominal distension, weight loss or poor weight gain, decreased appetite, and bloody diarrhea 2. onset before 1 month of age 3. delayed passage of meconium 4. failure to thrive 5. intermittent diarrhea and explosive stools 6. abnormal neurological examination 7. no response to treatment
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Management of functional constipation
PEG cleanout (1 g/kg for 3 days) and maintenance (0.2 - 0.8 g/kg) - treat for 6 month minimum
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Maternal risk factors of vitamin D deficiency (5)
1. Low intake of VitD rich foods (consuming <2cups/day of milk or fortified soy beverage, low consumption of fish and sea mammals) 2. Lack of Vit D supplementation during pregnancy 3. Use of certain medications (ex: some antiretrovirals and antiepileptics 4. Multiple pregnancies 5. Smoking
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Infant risk factor for Vitamin D Deficiency
Mother not ingesting sufficient Vit D supplements or otherwise at risk for for Vit D deficiency (regardless of infant feeding mode)
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Child risk factors for Vitamin D Deficiency (3)
1. Low intake of Vit D rich foods 2. Mother has risk factors for VitD deficiency 3. Lack of Vit D supplementation during infancy
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Risk Factors for Vitamin D Deficiency (7)
1. Darker skin pigmentation 2. Food insecurity 3. Obesity 4. Living in communities North of 55* latitude (Edmonton is 53) 5. Living i area where Vit D deficiency is prevalent 6. Extensive use of sun block or skin coverage by clothing or lack of exposure to outdoors 7. Low socio-economic status
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Causes of Rickets (4)
1. Vitamin D deficiency (malabsorption, CKD, nutritional deficiency) 2. Calcium deficiency (low intake, prematurity, malabsorption) 3. Phosphorous deficiency (low intake, prematurity, aluminum-containing antacids) 4. Renal losses (McCune-Albright syndrome, Fanconi syndrome, distal RTA)
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X-ray findings in Rickets (5)
1. Widening of epiphyseal plate 2. Loss of zone of calcification at epiphyseal/metaphyseal interface 3. Cupping, splaying, stippling and formation of cortical spurs at the growth plate, best seen at the distal ulna 4. Osteopenic shafts of long bones 5. Thin cortices
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Extra skeletal findings in Rickets (10)
1. Delayed motor milestones (delayed walking or standing, frequent falling) 2. Delayed growth / FTT 3. Fractures 4. Hypoplasia of dental enamel 5. Decreased muscle tone 6. Leg pain 7. Cardiomyopathy 8. Hypocalcemic seizures 9. Increased risk of infection 10. Increased sweating in infants see RC photo
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Laboratory findings in Vitamin D Deficient Rickets
Low calcium, Low Phosphate, High PTH, Low 25-Vit-D, High ALP
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Treatment of Ricket
Calciferol (2000-1000 units/day) Calcium 100 mg/day
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Presentation of ACUTE Vitamin A EXCESS? HINT: - Describe acute toxicity symptoms
Acute toxicity: - N/V - Vertigo - Blurred vision
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Presentation of CHRONIC Vitamin A EXCESS? HINT: - Describe effects on developing fetus - Describe chronic toxicity symptoms
Teratogenic: cleft palate, cardiac abnormalities Chronic: alopecia, dry skin, carotenemia, HSM, hepatic toxicity, arthralgia, IIH, bone anomalies (swelling & pain of long bones, bone fragility)
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Presentation of Vitamin A DEFICIENCY?
- Dry conjunctiva - Bitot spots - foamy, white/grey patches on the outer conjunctiva) - Night blindness - Dry skin with follicular hyperkeratosis
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Vitamin B1 (Thiamine) Deficiency
Wet Beri Beri (Cardiovascular) - presents with tachycardia, cardiomegaly, high output heart failure, peripheral edema, dyspnea Dry Beri Beri (Neurologic Form) - symmetrical peripheral neuropathy, muscle weakness, areflexia, foot drop Wernicke-Koraskoff syndrome
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Presentation of B2 (Riboflavin) Deficiency?
- Edema of mucous membranes - Chelitis; Stomatitis; Glossitis
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Vitamin B3 (Niacin) Deficiency
Pellagra- present with 3 Ds: 1. Dermatitis (Hyperpigmentation in sun exposed areas) 2. Diarrhea 3. Dementia (CNS sx, confusion, hallucinations, irritability, ataxia, seizures)
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Presentation of Vitamin B6 (pyridoxine) deficiency?
- Listlessness, IRRITABILITY, Insomnia - FTT; Vomiting - Microcytic ANEMIA; Decreased Ab formation - Difficulty walking, weakness, seizures - Nasolabial SEBORRHEIC DERMATITIS, CHELOSIS, GLOSSITIS, STOMATITIS
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Presentation of Vitamin B6 (pyridoxine) Excess?
- Ataxia - Sensory neuropathy
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Presentation of B9 (folate) deficiency?
- Macrocytic anemia - Sensory predominant neuropathy hx of exclusive goat milk formula, methotrexate or phenytoin use. if Mom has B9 deficiency --> baby may have neural tube defects, low birth weight and premature FYI: Dx = macrocytosis + low folate levels Tx = folic acid, enriched cereals, grains, dark leafy veg
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Presentation of B12 (Cobalamin) deficiency?
- MACROCYTIC ANEMIA (pernicious anemia); Low reticulocytes; Thrombocytopenia; Neutropenia - Peripheral neuropathy; Weakness - Paraethesias; Impaired proprioception - Loss of DTRs - Confusion - Hx of vegan/vegetarian diet or short gut
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Presentation of Vitamin C Deficiency (aka Scurvy)
- BLEEDING GUMS; Epistaxis; Petechiae & Ecchymoses - POOR WOUND HEALING - Coiled CORKSCREW HAIRS; Follicular Hyperkeratosis; PERIFOLLICULAR HEMORRHAGES - ARTHRALGIAS; Pseudoparalysis; "Woody edema" & LEG SWELLING (*knees & ankles - Scurvy "scorbutic rosary" of costcochondral junction + sternal depression
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what is this?
“Scorbutic Rosary” from vit C deficiency
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Presentation of Vitamin E Deficiency
- Myopathy / muscle weakness - Ataxia - Vision loss; Retinal degeneration - Hemolytic Anemia - Vit E def can occur from fat malabsorption
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Presentation of Vitamin K Deficiency
- Elevated INR - Hemorrhagic disease (of newborn)
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A infant is diagnosed with the Autosomal Recessive form of Zinc Deficiency (called Acrodermatitis enteropathica), how would they present? HINT: - Timing of onset: *** - Symptoms: ***
Timing of onset: - Classically occurs after weaning from breast milk to formula or cow’s milk Symptoms: - SYMMETRIC RASH (vesiculobullous, eczematous, dry, scaly) in specific locations (PERIORAL, PERINEAL areas, acral, cheeks, knees, elbows) - CHRONIC DIARRHEA - GROWTH DELAYS - INTEGUMENT CHANGES (Glossitis, stomatitis, paronychia, atypical Hair (peculiar reddish tint) +/- alopecia) Can also have irritability, delayed wound healing, and ocular changes (conjunctivitis, blepharitis)
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Risk factors for bezoar (3)
1. anatomical abnormalities 2. gastric dysmotility 3. medical and psychiatric conditions leading to consumption of non foods
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Imaging for diagnosis of bezoar
abdominal x-ray can suggest a bezoar which is then confirmed on US, fluoroscopy or CT
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Management of bezoar
Bezoars in the stomach can usually be removed endoscopically Large bezoar need to be surgically removed
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Causes of protein losing enteropathy (5)
1. Mucosal inflammation (IBD, celiac, EOE), erosion, or ulceration 2. Infection: C. difficile, CMV, giardia, H. pylori, measles, TB 3. Non-infectious: Allergic gastroenteropathy, celiac disease, HSP, IBD, polyposis, portal HTN, NEC, SLE 4. Intestinal lymphangiectasia 5. Secondary causes: CHF, pericarditis, thoracic duct damage, post cardiac surgery (Fontan)
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Diagnostic studies for protein losing eneteropathy
Fecal alpha-1 antitrypsin or fecal calprotectin Small bowel contrast studies: thickened folds Endoscopy: mucosa with snowflake pattern, lesions are patchy (need multiple biopsies); histology shows dilated lacteals decrease protein (non selective): low albumin, low transferring, low immunoglobulins, low ceruloplasmin, low fibrinoge
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Management of protein losing enteropathy
Treat underlying disease Nutritional support: high protein, low fat with high-medium chain triglyceride (MCT) diet, supplement fat soluble vitamins Diuretics for edema Consider IV albumin if symptomatic
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what is the pathophysiology of alpha 1 antitrypsin deficiency?
Deficiency in alpha 1 antitrypsin which is a protease inhibitor synthesized in the liver that protects alveoli from destruction by neutrophil elastase. Abnormal a-1 antitrypsin forms polymers that damage hepatocytes
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Presentation of alpha 1 antitrypsin deficiency?
jaundice, hepatomegaly and acholic stool first 1-2mo of life conjugated hyperbili, pruritis high AST/ALT/GGT Can resolve or develop cirrhosis.
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Diagnosis of alpha 1 antitrypsin deficiency?
Low serum A1AT level* plus confirmatory phenotype with gel electrophoresis (or confirmatory genotype) *serum A1AT can be falsely elevated if inflammation present (acute phase reactant)
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Complications of alpha 1 antitrypsin deficiency?
Risk of hepatocellular carcinoma Asthma
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Treatment of alpha 1 antitrypsin deficiency?
Counsel to avoid smoking Liver transplant if hepatocellular carcinoma, end-stage liver disease with portal HTN
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Diagnostic criteria of ARFID?
Eating disturbance resulting in one or more of: (1) weight loss or failure to gain weight appropriately (2) nutritional deficiency (3) dependence of enteral feeds or supplements (4) significant psychosocial dysfunction *No evidence of body image distortion
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The age old question, what is the difference between GER and GERD?
GER: passage of gastric contents into the esophagus (with or without regurgitation and vomiting) GERD: GER leading to troublesome symptoms and/or complications
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Diagnosis of infant with GERD?
CLINICAL - excessive crying, back arching, regurgitation and irritability no diagnostic tests required unless there are red flags, which warrant peds GI referral
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what are the red flags of GERD?
constitutional: -wt loss, lethargy, fever -excessive irritability/pain timeline red flags: -onset of regurg/vomiting <1wk or >6mo -persisting >12mo (ie still needing PPI) GI sx red flags: -forceful vomiting persistently -nocturnal vomiting -bilious emesis -bleeding (hematemesis, rectal bleed) - abdo distension -chronic diarrhea
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red flags on GERD history warrant peds GI referral for investigations. Which investigations might be considered?
Barium swallow – useful to evaluate for anatomic abnormalities (hiatal hernia, malrotation, pyloric stenosis, duodenal web, duodenal stenosis, antral web, esophageal narrowing, Schatzki’s ring, achalasia, esophageal stricture, and esophageal extrinsic compression) Video fluoroscopic swallow study (VFSS) – does not assess for GER but does assess for oropharyngeal dysphagia and aspiration which can mimic GER EGD with biopsy – to detect complications of GERD (such as strictures, Barrett esophagus), to diagnose conditions that predispose to GERD (such as hiatal hernia) or to diagnose conditions that might mimic GERD (such as eosinophilic esophagitis, infectious esophagitis)
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1st step of treatment after diagnosing an infant with GERD?
avoid overfeeding thicken feeds continue breastfeeding (*Do NOT recommend positional therapy in sleeping infants)
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if no improvement of an infant's GERD sx despite thickened feeds and avoidance of overfeeding, what is the next step in management?
cow’s milk elimination in mom’s diet for breastfed infants or, hydrolyzed protein or amino acid based formula
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A baby continues to have GERD sx despite 2-4 weeks of hydrolyzed/amino acid formula, what is the next step?
4-8 wk of PPI (omeprazole, lansoprazole, rabeprazole, etc.) then try to wean 2nd line: H2 receptor blocker (ranitidine) side effects of PPI: NEC, pneumonia, URTI, C Diff FYI Refer to peds GI if infants can't be permanently weaned from PPI by 6 to 12 months of age
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What is Alagille ?
Arteriohepatic dysplasia, causes paucity of bile ducts ie no bile ducts
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Genetics of Alagille?
AD inheritance – JAG1 >> NOTCH2
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Presentation of Alagille?
*Cholestasis – jaundice, acholic stools as neonate, progressive severe pruritis, Cirrhosis later in life High ALP, GGT, conjugated bili modest elevation in ast/alt *hepatomegaly in all pts Facial – broad forehead, deep set hypertelorism, under-developed mandible, bulbous tip nose Eye – posterior embryotoxin (see photo, vison unaffected), hypertelorism (widely spaced eyes) CVS – pulmonary artery stenosis, Moyamoya (stroke), xanthomas (++ high cholesterol, but not atherosclerotic) Butterfly vertebrae, Spina bifida renal problems short stature, pancreatic insufficiency
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Diagnosis of Alagille?
either JAG1 or NOTCH2 gene mutation Fam hx Cholestasis (with intrahepatic bile duct paucity) Cardiac murmur/heart disease Skeletal anomalies (eg Butterfly vertebrae) Ocular findings (vision NOT affected) Renal anomalies Structural vascular anomaly Characteristic facies
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Who should be tested for H Pylori?
ONLY children who you suspect have PUD Should not be done as initial testing for iron deficiency anemia (could be considered for refractory IDA) Should not be done for those with functional abdominal pain Should not be done with epigastric pain that is not suspected to be PUD Should not be done as workup for short stature. Could be considered when investigating causes of chronic ITP.
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How should H Pylori be tested for?
Always with EGD. At least 6 gastric biopsies needed. Unless testing for chronic ITP --> then can do non invasive testing with stool antigen test Testing should wait at least 2 weeks after stopping PPIs and 4 weeks after stopping antibiotics Do NOT use antibody tests (IgG, IgA) for H pylori in serum, saliva, urine etc
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Who to treat for H Pylori?
Patients with PUD, ulceration, scarring who are identified as having H pylori Others --> not clear Incidental findings, antral nodularity, H pylori gastritis --> no clear evidence to treat
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How to treat H Pylori?
If suspectible to Clarithromycin (CLA)and Metronidazole (MET): PPI - Amox - Clarithromycin If resistant to CLA, susceptible to MET: PPI - Amox - MET If resistant to MET, susceptible to CLA: PPI - Amox - CLA If resistant to CLA and to MET: PPI - Amox - MET with high dose Amox or bismuth-based OR PPI- Amox-MET-CLA Unknown: PPI - Amox - MET All for 14 days
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How can outcome of treatment for H Pylori be assessed?
Should do a urea breath test OR a 2-step stool antigen test 4 weeks after completion of antibiotic therapy for H Pylori to assess eradication
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What is the test-and-treat approach in H Pylori (and why not to do it)
If you have a patient with functional abdominal pain / heartburn / vague abdominal pain symptoms etc, in adults they would do a stool antigen test and treat for H Pylori if positive (this is "test and treat") We do NOT do this in children. Only look for H Pylori WITH A SCOPE and generally ONLY if you suspect PUD (with some rare exceptions like chronic ITP or refractory IDA).
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What are the two main etiologies of zinc deficiency?
Inherited - Acrodermatitis enteropathica Autosomal recessive Affects intestinal absorption and transport of zinc Acquired - impaired zinc excretion in breast milk (most common)
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Clinical manifestations of zinc deficiency?
Diarrhea Skin eruption: well demarcated erythematous plaques → specifically perioral/ perianal areas alopecia Irritability FTT
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Diagnosis and treatment of zinc deficiency?
Plasma zinc level Tx with zinc supplement
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Clinical presentation of PUD?
Hematemesis or melena Dull, aching epigastric pain and nausea "Classic symptom" is epigastric pain alleviated by the ingestion of food
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Causes of PUD:
H Pylori NSAIDS (most common) Steroids Infectious gastritis Zollinger-Ellison syndrome (gastrin-secreting tumours) Chronic disease (Crohn's, celiac) Idiopathic
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Which intracellular electrolyte activates trypsinogen to trypsin resulting in activation of other digestive proenzymes and a cascade of acinar cell injury and autodigestion and ultimately local inflammatory response and edema in pancreatitis?
Calcium Inciting event results in excessive intracellular calcium signalling within a few acinar cells
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What are the potential etiologies for pancreatitis (think I GET SMASHED) as well as what is most common?
Idiopathic Gallstones Ethanol Trauma (blunt abdominal trauma) Systemic conditions (sepsis, shock, SLE, JIA, IBD, HUS, others) Infections (mumps, CMV, HSV, others) Drugs (VPA, L asparaginase, 6-MP, azothioprine) Structural abnormalities (pancreaticobiliary junction malunion, annular pancreas, pancreas divisum) Metabolic diseases (DKA, organic acidemias, a-1-antitrypsin, prolonged TPN, hyperlipidemia) Genetic mutations (CTFR, SPINK 1, others)
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What is the criteria for diagnosis of acute pancreatitis?
As per INSPPIRE criteria, a diagnosis of AP requires at least 2/3 of the following: (1) abdominal pain compatible with AP (2) serum amylase and/or lipase values 3 times upper limits of normal (3)imaging findings consistent with AP
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Differences between lipase and amylase in acute pancreatitis?
Lipase usually is increased within 6 hours of symptoms but peaks at 24-30 hours and remains elevated for a week lipase is more sensitive and specific marker for AP Amylase is secreted from several organs including the salivary glands. Amylase levels can also be altered by the etiology of pancreatitis. Amylase can also normalize by 24 hours after onset of symptoms, limiting usefulness.
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List several causes of non-pancreatic causes of elevations of serum amylase and/or lipase?
Decompensated liver failure, renal failure, intestinal inflammation (including celiac disease and inflammatory bowel disease), abdominal trauma, diabetic ketoacidosis, and head trauma
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What are the most common causes of childhood acute pancreatitis?
Blunt abdominal trauma Multisystem disease (eg HUS, IBD) Biliary or obstructive (eg choledochal cyst) Drug toxicity Anatomic (annular pancreas, pancreas divisum)
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Best imaging in pancreatitis?
Xray usually non specific - CXR may show pleural effusions, pericardial effusion, pulmonary edema - Abdo XR may show snetinel loops, dilation of the transverse colon, ileus, ascites (diffuse haziness) CT most helpful for diagnosis of pancreatitis However can have normal imaging in pancreatitis US helpful to diagnose biliary stones MRCP and endoscopic retrograde cholangiopancreatography are essential in the investigation of recurrent pancreatitis, nonresolving pancreatitis, disease associated with gallbladder pathology
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What labs should you send for workup of autoimmune pancreatitis
No definitive labs for diagnosis Imaging probably most helpful in dx However should send these: - IgG - ANA - Anti LKM - Anti dsDNA
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Treatment principles in pancreatitis?
Analgesia Fluid, electrolyte and mineral balance should be restored NG suction is useful in patients who are vomiting
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What are predictors of more severe disease in pancreatitis?
Age < 7 Lower body weight Elevated WBC LDH > 2000 Other predictors of severe disease at 48 hours: - increased serum calcium - serum albumin - BUN - high fluid requirements
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Based on most frequent etiologies of pancreatitis and those for which therapeutic options exist, what are the recommended first line labs to do for workup of etiology?
Liver enzymes, ALP and GGT, and bilirubin Triglyceride level Calcium level
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Goals of fluids in acute pancreatitis?
Provide fluid resuscitation Prevent long term complications (fluids can help preserve pancreatic perfusion and microcirculation which helps prevent formation of microthrombi and progression to severe disease)
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