Micro/Path: Syndromes Flashcards
which malabsorption syndrome is caused by a sensitivity to gluten in cereal:
a. tropical sprue
b. celiac disease
c. whipple disease
d. autoimmune enteropathy
b. celiac disease = THINK CEREAL = CELIAC
malabsorption = defective absorption of fats, proteins, carbs, minerals, electrolytes, all vitamins and water
malabsorption presents most commonly as
chronic diarrhea
malabsorption = defective absorption of fats, proteins, carbs, minerals, electrolytes, all vitamins and water
___ malabsorption can be accompanied by weight loss, anorexia, abdominal distention, borboygmi, and muscle wasting.
chronic
rumbling or gurgling noise made by the movement of fluid and gas in the intestines
borboygmi
steatorrhea is a hallmark of? what is it?
hallmark of malabsorption = excessive fecal fat and bulky, frothy, dreasy yellow or clay colored stools
what is damaged in the celiac disease as a result of ingestion of gluten
the mucosal lining of the small intestine is damaged
how long a person was breastfed plays a role in how celiac disease appears. The longer someone was breastfed, the __ the symptoms appear, and the more atypical the symptoms
longer
celiac disease can be fatal to __adults/children?
why?
adults
b/c can develop lymphoma in the intestine
____ = cause is unknown but may be related to infectious organism. the condition affects residents/visitors to the tropics. symptoms include DIARRHEA, weight loss, steatorrhea, sore tongue from Vitamin B deficiency.
Tropical sprue
Tropical sprue treatment
Tetracycline for up to 6 months
a systemic bacterial illness affecting middle age men and presents diarrhea anemia, arthritis fever weight loss swollen lymph nodes and skin pigmentation. it is diagnosed by taking a small bowel biopsy through an endoscope and the treatment is antibiotics for one year or longer.
Whipple disease = Tropheryma whippelii
- skin pigmentation due to endocrine problem?
2. skin pigmentation due to bacterial illness?
- Addison’s disease
2. Whipple disease
is a rare X-linked disorder characterized by severe and persistent diarrhea and autoimmune disease that occurs most often in young children
Autoimmune enteropathy
Abetalipoproteinemia: rare autosomal __ disease characterized by an inability to secrete ___. caused by a mutation in microsomal triglyceride transfer protein (MTP) that catalyzes transport of triglycerides, cholesterol esters, and phospholipids
recessive, triglyceride rich lipoproteins
Crohn’s disease is a __ inflammation that may affect any part of GI tract but has tendency to affect the? major symptoms are diarrhea, abdominal pain and weight loss. may have fever, malaise lethargy anorexia nausea, vomiting and low grade fever
chronic
seborrheic dermatitis
nervous disorders
can be induced by avidin
Biotin
Avidin
- is a biotin-binding protein produced in the oviducts of birds, reptiles and amphibians and deposited in the whites of their eggs = mnemonic: avid in egg whites avidly binds biotin
Functional avidin is found only in raw/cooked egg,
raw
biotin avidity of the protein is destroyed by cooking
if you eat too many raw eggs you can become biotin deficient
how was avidin discovered?
The route to discovery began with the observation that chicks on a diet of raw egg-white were deficient in biotin, despite availability of the vitamin in their diet
how is avidin impt in research
Research in the 1970s helped establish the avidin-biotin system as a powerful tool in biological sciences. Aware of the strength and specificity of the avidin-biotin complex, researchers began to exploit avidin and streptavidin as probes and affinity matrices in numerous research projects. Avidin’s affinity for biotin is exploited in wide-ranging biochemical assays, including western blot, ELISA, ELISPOT and pull-down assays
which vitamin deficiencies can cause anemia?
Folic acid, B6 pyridoxine, and B12 cobalamine
which vitamin deficiencies cause microcytic anemia?
B6 (pyridoxine)
- Seborrheic dermatitis is a chronic, relapsing and usually mild dermatitis. In infants seborrheic dermatitis is called __
- caused by deficiency in
cradle cap
biotin (B8)
- D2
- D3
- storage form of vit D
- active form?
- D2 = ergocalciferol = consumed in milk
- D3 = cholecalciferol = from sun exposed skin
- 25 (OH) D3 = storage form
- 1, 25 (OH)2 D3 = active form
the absorption of fat or water soluble vitamins is affected the most in malabsorption disorders
fat (ADEK), think of it, because we don’t store water soluble so they are not affected AS much
Vitamin B12 malabsorption occurs in which kind of anemia
pernicious anemia due to the absence of intrinsic factor
vitamin __ malabsorption also occurs in Crohn’s Disease
Vitamin B12
which characterized by presence of numerous polyps along with skin and bone tumors
a. turcot’s syndrome
b. gardner’s syndrome
c. peutz-jeghers syndrome
d. familial adenomatous polyposis
gardner’s syndrome
a mass of mucosal surface protruding into the lumen of the bowel is called
a GI polyp
Familial adenomatous polyposis (FAP):
- caused by the absence of ___
- autosomal __
- numerous adenomatous polyps so the risk of malignant transformation is __%
FAP
1. APC (tumor suppressor gene) think AP is also in the name
2. dominant
3. 100
to remember dominant, think if it running in the family it is dominant
- Garner’s Syndrome is a __syndrome that can affect the __
- autosomal __
- it is different than the other polyposis syndromes in that it?
- dental affect?
- numerous adenomatous polyps so the risk of malignant transformation is __%
- polyposis, GI (think Gardner = G = for GI)
- dominant (think the Gardner dominates his garden)
- it also causes skin and bone tumors.
- Supernumerary teeth are common
- 100
- to remember: think he’s a Gardner, G = for GI, he plants a lot of polyps, so he has skin and bone tumors, and more teeth than he can count, malignant, and he dominates his garden
Peutz-Jegher’s syndrome is also a polyposis syndrome:
- ausomal __
- characterized by __ polyps of the colon and small intestine (especially the jejunum)
- characterized by what dental?
- do the polyps have a risk of malignant transformation?
- syndrome is associated with increased risk of
- dominant
- hamartomatous (non-neoplastic)
- melanin pigmentation in the mouth and on the lips, hands and genitalia
- no malignant potential
- adenocarcinoma of the colon, malignancy at other sites, such as stomach, breast, lung, ovaries
most frequently occurring chromosomal disorder is
Down Syndrome
SS-A (anti-Ro) and SS-B (anti-La) are antibodies found in
Sjogrens