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# US GI2 Test 1 > Chapter 17: The GI Tract - Congenital Abnormalities and Esophagus > Flashcards

Chapter 17: The GI Tract - Congenital Abnormalities and Esophagus Flashcards

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1
Q

What is the most common form of esophageal atresia?

A
  • Blind upper segment of esophagus
  • Fistula b/w lower segment and trachea, most commonly at or near tracheal bifurcation

*Figure B is most common

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2
Q

What is the most common form of congenital intestinal atresia

A result of what embryologically?

A
  • Imperforate anus
  • Failure of cloacal diaphragm to involute
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3
Q

Developmental abnormalities of the the esophagus are associated with what other defects?

A
  • Congenital heart defects
  • Genitourinary malformation
  • Neurologic disease
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4
Q

What is the most frequent site of ectopic gastric mucosa and what is it referred to here?

May result in what problems?

A
  • Upper 1/3 of esophagus = Inlet patch
  • Dysphagia, esophagitis, Barrett esophagus, or rarely, adenocarcinoma
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5
Q

What are examples of ectopia seen within the GI tract?

A
  • Inlet patch: ectopic gastric mucosa in upper 1/3 of esophagus
  • Ectopic pancreatic tissue: in stomach or esophagus
  • Gastric heterotropia: patches of ectopic gastric mucosa in the small bowel or colon
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6
Q

Gastric heterotropia may present with what signs/symptoms?

A

Occult blood loss due to peptic ulceration of adjancent mucosa

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7
Q

Differentiate Omphalocele from Gastroschisis.

A
  • Omphalocele = incomplete closure of abdominal ms. and abdominal viscera herniate INTO a ventral membranous sac
  • Gastroschisis = similar to omphalocele, BUT involves ALL layers of abdominal wall from peritoneum to the skin - organs are exposed!
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8
Q

What is the most common true diverticulum and where does it occur?

A
  • Meckel diverticulum
  • Ileum
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9
Q

Cause of Meckel Diverticulum?

A

Failed involution of vitelline duct

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10
Q

What is the rule of 2’s in regards to Meckel Diverticulum?

A
  • 2% of population
  • Present within 2 feet of ileocecal valve
  • 2 in. long
  • 2x more common in males
  • Symptomatic by age 2 (only 4% are ever symptomatic!)
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11
Q

What may be present in a Meckel Diverticulum that causes symptoms and what are these symptoms?

A
  • Ectopic pancreatic or gastric tissue
  • Peptic ulceration of adjancent SI tissue –> occult blood or abdominal pain resembling appendicitis or obstruction
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12
Q

Which sex is most commonly affected by congenital hypertrophic pyloric stenosis?

A

3-5x more likely in males

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13
Q

Which genetic disorders are associated with an increased risk of Pyloric Stenosis?

A
  • Turner syndrome
  • Trisomy 18
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14
Q

Which enviornmental factors have been linked to an increased risk of developing pyloric stenosis?

A

Erythromycin or azithromycin exposure, orally or via mother’s milk in first 2 weeks of life

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15
Q

When and how does congenital hypertrophic pyloric stenosis typically present?

A
  • Between 3rd and 6th weeks of life
  • New onset regurgitation w/ projectile, NON-bilious vomiting after feeding w/ frequent demands of re-feeding
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16
Q

What is palpated on PE with a congenital hypertrophic pyrloric stenosis?

What is tx?

A
  • Firm, ovoid, 1-2 cm abdominal mass
  • Tx = myotomy = curative
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17
Q

Which genetic disorder predisposes a child to Hirschsprung disease?

A

Down syndrome

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18
Q

What is the pathogenesis of Hirschsprung Disease (congenital megacolon)?

Produces a distal intestinal segment lacking what?

A
  • Normal migration of NCC from cecum to rectum is arrested prematurely
  • OR when ganglion cells undergo premature death
  • Lacking both the Meissner submucosal and Auerbach myenteric plexus, dilation proximal to affected segment
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19
Q

Which genetic abnormality can account for the majority of familial cases of Hirschsprung disease?

A

Loss-of-function mutation in RET (receptor tyrosine kinase)

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20
Q

How does Hirschsprung disease typically present?

A
  • Failure to pass meconium
  • Obstruction or constipation
  • Abdominal distention —> bilious vomiting
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21
Q

What are the major threats to life in regards to Hirschsprung disease?

A
  • Enterocolitis
  • Fluid/electrolye imbalance
  • Perforation
  • Peritonitis
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22
Q

Diagnosis of Hirschsprung disease requires what?

Which stain can be used?

A
  • Documenting absence of ganglion cells within affected segment
  • Immunohistochemical stains for acetylcholinesterase for ganglion cells
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23
Q

Which part of the colon is ALWAYS affected in Hirschsprung Disease?

A

Rectum

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24
Q

What are some causes of acquired megacolon?

Which is associated with loss of ganglion cells and which aren’t?

A
  • Chagas disease —> Trypanosoma cruzi(Reduviid bug) = loss of ganglion cells
  • Obstruction by neoplasm, inflammatory stricture, or Ulcerative Colitis = NOT associated w/ loss of ganglion cells
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25
Q

How does achalasia differ from hypertensive LES abnormalities?

A

Achalasia also has reduced esophageal peristaltic contractions

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26
Q

Larger Zenker Diverticulum may produce what signs and symptoms?

A

A mass and symptoms including regurgitation and halitosis (bad breath)

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27
Q

Idiopathic ledge-like protrusions of mucosa that may cause obstruction in the esophagus are known as?

A

Esophageal mucosal webs

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28
Q

Esophageal mucosal webs most often occur in whom?

Associated with what other diseases?

A
  • Woman >40 yo
  • GERD, chronic GVHD, or blistering skin diseases
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29
Q

What are the characteristic findings in Plummer-Vinson syndrome?

A
  • Esophageal mucosal webs of the upper esophagus
  • Iron-deficiency anemia
  • Glossitis (beefy red tongue)
  • Cheilosis (cracking of corners of mouth)
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30
Q

What is the main symptom of esophageal webs?

A

Non-progressive dysphagia associated w/ incompletely chewed food

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31
Q

How do Schatzki rings differ from esophageal webs?

A

Are circumferential, thicker, and include mucosa AND submucosa w/ occasional hypertrophic muscularis propria

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32
Q

What is the triad of Achalasia?

A

1) Incomplete LES relaxation
2) Increased LES tone
3) Aperistalsis of esophagus

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33
Q

Primary achalasia is the result of what?

What nerve/nucleus may be affected?

A
  • Degeneration of the distal esophageal inhibitory neuronal (ganglion cells)
  • Extraesophageal vagus n. and dorsal motor nucleus may also undergo degenerative changes
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34
Q

Secondary achalasia may arise in relation to infection by what bug?

What are the characteristics of this type of achalasia?

A
  • Chagas disease (Trypanosoma cruzi)
  • Destruction of myenteric plexus
  • Failure of peristalsis
  • Esophageal dilation
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35
Q

Achalasia-like disease may result from what other systemic disorders?

A
  • Diabetic autonomic neuropathy
  • Malignancy
  • Amyloidosis or Sarcoidosis
  • Lesions of dorsal motor nuclei (polio or surgical ablation)
  • Down syndrome
  • Allgrove (triple A) syndrome
36
Q

What is the inheritance pattern and triad associated with Allgrove (triple A) syndrome?

A
  • Autosomal recessive
  • Achalasia
  • Alacrima
  • Adrenocorticotrophic hormone-resistant adrenal insufficiency
37
Q

Linkage of achalsia to which immune disorders suggest that achalasia may also be driven by immune-mediated destruction of inhibitory esophageal neurons?

A
  • HSV1 infection
  • Immunoregulatory gene polymorphisms
  • Sjorgen syndrome
  • Autoimmune thyroid disease
38
Q

What are 3 treatment options for both primary and secondary achalasia?

A

1) Laparoscopic myotomy
2) Pneumatic balloon dilation
3) BOTOX injection, to inhibit LES cholinergic neurons

39
Q

When do Zenker Diverticulae most commonly develop (age)?

A

After age 50

40
Q

Mallory-Weiss tears are what?

A

Longitudinal mucosal tears near the gastroesophageal jct.

41
Q

Mallory-Weiss tears are most commonly associated/caused by what?

A
  • Severe retching (i.e., bulimia)
  • Vomiting secondary to acute alcohol intoxication
42
Q

What is Boerhaave syndrome and how does it compare to Mallory-Weiss tears?

A
  • Much less common, but MORE severe
  • Transmural tearing and rupture of the distal esophagus
43
Q

What occurs in patients suffering from Boerhaave Syndrome and how do they present?

The pt presentation often includes what other differential dx?

A
  • Severe mediastinitis (air in mediastinum 2’ to perf. Esophagus)
  • Pt presents w/ severe chest pain, tachypnea, and shock
  • Initial diff dx usually includes an MI
44
Q

Esophagitis caused by what organism is characterized morphologically by gray-white, pseudomembranes composed of densely matted fungal hyphae and inflammatory cells covering the esophageal mucosa?

A

Candidiasis

45
Q

Viral esophagitis caused by Herpes virus is distinguished by what morphological characteristics?

A
  • Punched-out ulcers
  • Nuclear viral inclusions
46
Q

Viral esophagitis caused by CMV is distinguished by what morphological characteristics?

A
  • Shallow ulcers
  • Nuclear and cytoplasmic inclusions (characteristic)
47
Q

Which fungi are the most common causes of esophagitis?

A
  • Candidiasis (most common)
  • Mucormycosis
  • Aspergillosis
48
Q

What is the most common viral cause of esophagitis?

A

Herpes simplex

49
Q

Recruitment of which immune cells are often seen morphologically with more severe injury as a result of GERD?

A
  • Eosinophils recruited into squamous mucosa
  • Followed by neutrophils
50
Q

Basal zone hyperplasia and elongation of lamina propria papillae extending into the upper 1/3 of the epithelium is associated with the pathogenesis of which cause of esophagitis?

A

GERD

51
Q

What are some of the complications that may result from reflux esophagitis?

A
  • Ulceration
  • Hematemesis
  • Melena (dark sticky feces)
  • Stricture development (ulcer -> loss of mucosal layer –> fibrosis)
  • Barrett esophagus
52
Q

What are the symptoms of Eosinophilic Esophagitis in both adults and children?

A
  • Adults - food impaction and dysphagia
  • Children - feeding intolerance and GERD-like sx’s
53
Q

What is the cardinal histological feature of eosinophilic esophagitis?

i.e., large #’s of which cells and where

A

Large #’s of intraepithelial eosinophils, particularly superficially

54
Q

How is eosinophilic esophagitis different from GERD?

A
  • Acid reflux is NOT prominent
  • PPI’s usually do NOT provide relief
55
Q

The majority of patients with eosinophilic esophagitis are also what?

Many have what underlying disorders?

A
  • Atopic
  • May have: atopic dermatitis, allergic rhinitis, asthma, or modest peripheral eosinophilia
56
Q

What are 2 major causes of Esophageal Varices?

Normal route of blood flow?

A

1) Portal HTN (cirrhosis - alcoholic liver disease) –> collateral channels –> congested subepithelial and submucosal venous plexi within distal esophagus and prox. stomach
- Left gastric vein —> Portal V.
2) Hepatic schistosomiasis - parasitic disease -> flukes (trematodes)

57
Q

Variceal hemorrhage is a medical emergency that can be treated how?

A
  • Inducing splanchnic vasoCONSTRICTION
  • Endoscopic sclerotherapy (inject thrombotic agents)
  • Balloon tamponade
  • Variceal ligation
58
Q

What are the signs/symptoms of esophaeal varices?

A
  • Esophageal bleeding
  • PAINLESS hematemesis
59
Q

Patients with risk factors for variceal hemorrhage, including large varices, elevated hepatic venous pressure gradients, previous bleeding, and advanced liver disease may by treated prophylactically with what?

A

Beta-blockers

60
Q

What is the prognosis of someone treated for a variceal hemorrhage?

A
  • 30% or more pts die as consequence of hemorrhage –> hypovolemic shock, hepatic coma, etc..
  • 50% of pts who survive 1st bleed have recurrent hemorrhage within 1 year
61
Q

Cirrhosis patients with small varices that have never bled are at (low/high) risk for bleeding or death?

A

Low risk

62
Q

What occurs in the vasculature as a result of Portal HTN and leads to formation of varices?

A

- Left gastric V. backs up into the esophageal V., resulting in dilation (varices)

- Distal esophageal v. usually drains into the portal v. via the left gastric v.

63
Q

The greatest concern in Barrett esophagus is that it confers an increased risk of developing?

A

Esophageal adenocarcinoma

64
Q

What morphological change is seen with Barrett Esophagus?

A

- Metaplasia of lower esophageal mucosa

  • Stratified squamous epi —> nonciliated columnar epithelium w/ goblet cells
65
Q

Which type of esophageal cancer is most common worldwide; which is becoming more prevalent?

A
  • Squamous cell carcinoma = more common worldwide
  • Adenocarcinoma is becoming more prevalent in the US and Western society
66
Q

What is the most likely factor contributing to the increasing rates of esophageal adenocarcinoma, especially in the US?

A

Increased incidence of obesity-related GERD and Barrett Esophagus

67
Q

Which organism is associated w/ decreased risk of esophageal adenocarcinoma?

A
  • Some serotypes of H. pylroi
  • Cause gastric atrophy –> decreased acid secretion and reflux
68
Q

Which ethnicity and sex is most commonly affected by esophageal adenocarcinoma?

Recent increased incidence in which populations?

A
  • Caucasians
  • Men 7x more likely
  • Recent increased rates in: Hispanic men and White women
69
Q

Progression from Barrett Esophagus to Adenocarcinoma occurs over a period of time in a stepwise acquisition of genetic changes, which are seen early on and later in this progression?

A
  • Early: mutations of TP53 and downregulation of CDKN2A
  • Later: amplification of EGFR, ERBB2, MET, cyclin D1 and cyclin E
70
Q

Where in the esophagus does adenocarcinoma typically occur and where may it invade?

Major morphological characteristics?

A
  • Distal 1/3 of esophagus and may invade adjacent gastric cardia
  • Initially flat/raised patches —> large masses 5cm or >
  • Tumor produces mucin and forms glands
71
Q

How does a patient with an esophageal adenocarcinoma typically present (signs/symptoms)?

A
  • Pain or difficulty swallowing
  • Progressive weight loss
  • Hematemesis
  • Chest pain
  • Vomiting
72
Q

By the time a patient presents with symptoms of esophageal adenocarcinoma, what has the cancer likely done?

How does this affect prognosis?

A
  • Spread to submucosal lymphatic vessels
  • Overall 5-year survival is <25%
  • If cancer is limited to the mucosa or submucosa the 5-year survival is closer to 80%
73
Q

Which gender has the greatest risk for SCC of the esophagus and what is the typical age?

Which race of people are at the greatest risk?

A
  • > 45 yo
  • M:F = 4:1 w/

- African Americans 8x more affected!!!

74
Q

What is the major risk factor and some of the other risk factors for the development of Squamous Cell Carcinoma of the esophagus?

A
  • Alcohol and Tobacco use (major factor)
  • Achalasia –> rotting food –> irritation
  • Tylosis = thickening of palms and soles + white patches in mouth
  • Plummer-Vinson syndrome –> rotting food on ledge of web
  • Frequent consumption of hot beverages
  • Hx of Radiation to Mediastinum
  • HPV infection –> p16 + E6 + E7
75
Q

There is a pocket of extremely high esophageal squamous cell carcinoma incidence in western Kenya, including patients <30 yo, due to what?

A

Consumption of traditional fermented milk, which contains the carcinogen acetaldehyde

76
Q

Which genetic mutations play a role in the development of squamous cell carcinoma of the esophagus?

A
  • Amplification of SOX2
  • Over-expression of cyclin D1
  • Loss-of-function mutations in TP53, E-cadherin, and NOTCH1
77
Q

Which part of the esophagus do the majority of squamous cell carcinomas begin?

A

Middle 1/3 of the esophagus

78
Q

How does esophageal SCC begin?

Early appearane?

Late appearance?

A
  • Begins as in situ lesion (squamous dysplasia)
  • Early: small grey-white plaque thickenings
  • Late: exophytic tumor masses –> obstruct lumen
79
Q

Which 3 structures surrounding the esophagus do SCC’s sometimes invade and what does this lead to in each?

A

1) Respiratory tree –> pneumonia
2) Aorta –> catastrophic exsanguination
3) Mediastinum/Pericardium

80
Q

Differentiate the esophageal cancer on the top from that on the bottom; what are the distinguishing morphological features?

A
  • Top: adenocarcinoma; often organized w/ glands
  • Bottom: SCC of the esophagus; moderately to well-differentiated w/o presence of glands
81
Q

HY: the presence of cancers in the upper, middle, and lower 1/3 of the esophagus will have different sites of metastasis, what are they?

A
  • Upper 1/3: cervical LN’s
  • Middle 1/3: mediastinal/paratracheal/tracheobronchial LN’s
  • Lower 1/3: gastric and celiac nodes
82
Q

What are the common signs and symptoms of someone presenting with SCC of the esophagus?

What is seen if the tumor ulcerates?

A
  • Progressive dysphagia (solids –> liquids)
  • Odynophagia (painful swallowing)
  • Pt’s alter diet so have impaired nutrition and prominent wt. loss
  • Tumor may ulcerate producing hemorrhage or sepsis w/ sx’s of iron deficiency anemia
83
Q

What is the association of TE fistula and SCC of the esophagus?

A

Occasionally the 1st sx’s of SCC are caused by aspiration of food via a TE fistula

84
Q

How has endoscopic screening impacted the prognosis of esophageal SCC?

What is the overall prognosis in the US?

A
  • 5-year survival of 75% if caught early while still superficial
  • Overall in the US 5-year survival remains <20%
85
Q

Which type of esophagitis is strongly associated with food allergy, allergic rhinitis, and asthma?

A

Eosinophilic esophagitis

86
Q

SCC of the esophagus has a very high incidence in which 5 geographic locations?

A
  • Iran
  • Central China
  • Hong Kong
  • Brazil
  • South Africa

# US GI2 Test 1 (25 decks)

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