Nbde Microbiology/pathology Syndr

Front 1

What vitamin is a part of rhodopsin and a deficiency in it causes night blindness and growth retardation?

Back 1

Vitamin A

Front 2

What vitamin is a part of Ca absorption in the GI tract and supports PTH in bone. A deficiency in this causes Rickets, and osteomalacia.

Back 2

Vitamin D

Front 3

What vitamin is an antioxident and its deficiency causes ataxia?

Back 3

Vitamin E

Front 4

What vitamin is used in the activation of prothrombin and the synthesis of gamma carboxyglutamate. A deficiency in this causes bleeding disorders (II, VII, IX, X).

Back 4

Vitamin K

Front 5

What vitamin is used in hydroxylation of proline and lysine, and its deficiency causes scurvy?

Back 5

Vitamin C

Front 6

What vitamin is involved in decarboxylations and its deficiency causes Beriberi?

Back 6

B1 (Thiamin)

Front 7

What vitamin is invloved with flavins (FMN, ect.) and its deficiency causes glossitis, and cheilosis?

Back 7

Vitamin B2 (riboflavin)

Front 8

What vitamin is associated with transaminations and deaminations and its deficiency causes Anemia (microcytic) and Neuropathy?

Back 8

B6 (pyridoxine)

Front 9

What vitamin is associated with Methionine synthesis, odd carbon fatty acid, and degradation and its deficiency causes Anemia (macrocytic), Neuropathy, and D. Latum (worm infestation)?

Back 9

Vitamin B12

Front 10

What vitamin is associated with NAD+, and NADP+, and its deficiency causes Pellagra (diarrhea, dementia, dermatitis)?

Back 10

Niacin (Vitamin B3)

Front 11

What vitamin is associated with Coenzyme A and a deficiency causes headache, and nausea?

Back 11

Pantothenate (Vitamin B5)

Front 12

What vitamin is associated with carboxylations and a deficiency causes Seborrheic dermatitis, Nervous disorders, can be induced by avidin (protein in raw egg whites) which binds this vitamin?

Back 12

Biotin (Vitamin B7)

Front 13

What vitamin is associated with 1-carbon metabolism and a deficiency causes anemia (macrocytic), glossitis, and colitis?

Back 13

Folic Acid

Front 14

What can cause deficiencies of all nutrients or of proteins, fats, vitamins, or minerals selectively. Symptoms vary depending on the specific deficiencies.

Back 14

Malabsorption

Front 15

What are affected the greatest with malabsorption?

Back 15

Fat soluble vitamins (A, D, E, K)

Front 16

What does a vitamin B12 deficiency cause?

Back 16

Pernicious Anemia due to absence of intrinsic factor
Crohn's disease

Front 17

How does Vitamin B12 malabsorption come about in Pernicious Anemia?

Back 17

Destruction or malfunction of Gastric Parietal Cells

Front 18

Which malabsorption syndrome is caused by a sensitivity to gluten in cereal?

Back 18

Celiac Disease

Front 19

The most common symptom of malabsorption disease is what?

Back 19

Steatorrhea (stool that is light-colored, soft, bulky and foul-smelling)

Front 20

What are the malabsorption syndromes?

Back 20

Celiac Disease
Tropical Sprue
Whipple Disease

Front 21

A condition where the mucosal lining of the small intestine is damaged by ingestion of gluten

Back 21

Celiac Disease

Front 22

What is a major factor determining when and how celiac appears?

Back 22

Whether a person was breast fed and for how long.

Front 23

What does a person with celiac disease have to avoid?

Back 23

Wheat, Rice, Corn

Front 24

Why can celiac disease prove to be fatal in adults?

Back 24

Development of lymphoma in the intestine

Front 25

The cause of this disease is unknown, but it may be related to an infectious organism. It affects residents of or visitors to the tropics.

Back 25

Tropical Sprue

Front 26

What are the typical symptoms of Tropical Sprue?
What does this stem from?

Back 26

Steatorrhea
Diarrhea
Weight loss
Sore Tongue

Vitamin B Deficiency

Front 27

What is the treatment of Tropical Sprue?

Back 27

Antibiotics usually tetracycline
Up to 6 months

Front 28

Systemic bacterial illness usually affecting middle aged men and presents diarrhea, anemia, arthritis, fever, weight loss, swollen lymph nodes and skin pigmentation.

Back 28

Whipple Disease

Front 29

How is Whipple disease diagnosed?

Back 29

Taking a small bowel biopsy through endoscope

Front 30

What is the treatment of Whipple Disease?

Back 30

Antibiotics (penecillin and tetracycline)
One year or longer

Front 31

What are the symptoms of malabsorption syndromes due to?

Back 31

Osmotically active substances remaining in the GI tract
Nutritional deficiencies

Front 32

A mass of the mucosal surface protruding into the lumen of the bowel.

Back 32

GI polyps

Front 33

What characterizes GI polyposis?

Back 33

Multiple polyps within the GI tract

Front 34

What are the polyposis syndromes of the GI tract?

Back 34

Familial adenomatous polyposis
Gardner's Syndrome
Turcot's Syndrome
Peutz-Jeghers Syndrome

Front 35

What polyposis syndrome is caused by the absence of APC (a tumor suppressor gene), is autosomal dominant, characterized by the presence of numerous adenomatous polyps. The risk of malignant transformation approaches 100%

Back 35

Familial adenomatous polyposis

Front 36

What polyposis syndrome is autosomal dominant, and characterized by the presence of numerous adenomatous polyps along with skin and bone tumors. The risk of malignant transformation approaches 100%

Back 36

Gardner's Syndrome

Front 37

What polyposis syndrome is autosomal recessive, characterized by adenomatous polyps along with CNS (brain) tumors. The risk of malignant transformation is high.

Back 37

Turcot's Syndrome

Front 38

What polyposis syndrome is autosomal dominant, is characterized by harmartomatous polyps (non-neoplastic) of the colon and small intestine (esp. the jejunum). Also characterized by melanin pigmentation in the mouth and on the lips, hands, and genitilia. No malignant potential

Back 38

Peutz-Jeghers Syndrome

Front 39

Even though there is no malignant potential in Peutz-Jeghers Syndrome what is it associated with an increased risk of?

Back 39

Adenocarcinoma of the:
Colon
Stomach
Breast
Lung
Ovaries

Front 40

Patients with Down Syndrome are at an increased risk for what?

Back 40

Lymphoblastic leukemia

Front 41

What is the most frequently occurring chromosomal disorder; caused by trisomy _____; incidence increases with maternal age.

Back 41

Down Syndrome
21

Front 42

What disease is characterized by mental retardation a large forehead, broad nasal bridge, wide-spaced eyes, epicanthal folds, large protruding tongue, and small low-set ears. As well as broad hands with curvature of the fifth finger.

Back 42

Down Syndrome

Front 43

What are the complications associated with Down Syndrome?

Back 43

Congenital Heart Disease
Increased risk - Lymphoblastic Leukemia
Increased age = Alzheimer's Dis.

Front 44

What autosomal disease is caused by deletion of the short arm of chromosome _____; characteristics are severe mental retardation, microencephaly, and an unusual catlike cry.

Back 44

Cri du chat Syndrome
5

Front 45

Autosomal disease caused by deletion of a portion of chromosome _____; characteristics include CATCH 22

Back 45

DiGeorge Syndrome

Front 46

What does CATCH 22 stand for?

Back 46

Cardiac abnormalities
Abnormal facies
T-cell defic. due to thymic hypoplasia
Cleft palate
Hypocalcemia and Microdeletion of 22q11

Front 47

What autosomal disease has characteristics which include mental retardation, face has a pinched appearance, micrognathia (small jaw), head is small with low-set ears, and congenital heart disease.

Back 47

Edwards syndrome (trisomy 18)

Front 48

What autosomal syndrome has characteristics that include mental retardation, microcephally, microphthalmia, cleft lip and palate, brain abnormalities, polydactyly, and congenital heart disease

Back 48

Patau Syndrome (trisomy 13)

Front 49

What type of disease is Sjogren's Disease?

Back 49

Autoimmune disease

Front 50

Autoimmune disorder that is characterized by chronic inflammation caused by WBC infiltration of the salivary glands and lacrimal glands. This usually progresses to fibrosis and atrophy of these glands

Back 50

Sjogren's Disease

Front 51

What is the triad of findings in Sjogren's Disease?

Back 51

Keratoconjunctivitis Sicca (Dry eyes)
Xerostomia (Dry eyes)
Assoc. connective tissue disease (RA)

Front 52

In Sjogren's Disease all three of the classic symptoms _____ _____ in one patient.

Back 52

Rarely Occur

Front 53

How is a definite diagnosis of Sjogren's Disease made?

Back 53

2 of the 3 classic symptoms are present

Front 54

What is the prevalence of Sjogren's Syndrome?

Back 54

Less common than Rheumatoid Arthritis (RA)
Women > men

Front 55

What is the clinical presentation of diminished lacrimal and salivary gland secretion often referred to as?

Back 55

Sicca complex

Front 56

What is it called when Sjogren's syndrome occurs as a result of a Rheumatic condition?

Back 56

Secondary Sjogren's Syndrome

Front 57

Sjogren's Syndrome is associated with an increased incidence of _____ _____.

Back 57

Malignant Lymphoma

Front 58

What is it called when the lymphocytic infiltration that occurs in Sjogren's Syndrome causes enlargement of the glands?

Back 58

Mikulicz's Syndrome

Front 59

What two antibodies have been detected with high frequency in patients with Sjogren's Syndrome?

Back 59

SS-A (anti Ro)
SS-B (anti La)

Front 60

What two signs are reliable indicators of Tetany?

Back 60

Chvostek's Sign
Trousseau's Sign

Front 61

Clinical neurological syndrome characterized by muscle twitches, cramps, and carpopedal spasm. Severe cases cause laryngospasm and seizures. These basically indicate an irritablilti of the CNS and PNS.

Back 61

Tetany

Front 62

What deficiencies are usually associated with Tetany?

Back 62

Calcium Deficiency (hypoparathyroidism)
Vitamin D Deficiency
Alkalosis

Front 63

Why is it that acute hypocalcemia causes no other significant effects besides Tetany?

Back 63

Tetany kills the patient before other effects can develop.

Front 64

What toxin enters the CNS along the peripheral nerves, has an incubation period of 5-10 days, is characterized by stiffness of the jaws, difficulty swallowing, fever, headache, has a fixed smile and severe spasms of the neck, back, and abdominal muscles.

Back 64

Tetanus

Front 65

What is a fixed smile and elevated eyebrows called?

Back 65

Risus Sardonicus

Front 66

What is caused by spores of the same name which are highly resistant to heat, but toxins are not, is caused by the improper canning and heating of food, and itself causes nausea, vomiting, abdominal cramps which usually precede neurological symptoms?

Back 66

Botulism

Front 67

Tetany normally will occur when the blood _____ reaches approx. _____ (normal is about _____). It is is lethal at about _____.

Back 67

6 mg%
10 mg%
4 mg%

Front 68

What is the proper way to check for Chvostek's Sign?
What does this diagnose?

Back 68

Tap facial nerve above Mand. Angle. Spasm causing upper lip twitch is Positive for sign
Diagnoses Tetany

Front 69

How does one check for Trousseau's Sign?
What does a positive indication of this sign diagnose?

Back 69

Apply blood pressure cuff to arm
Spasm causing thumb adduction and finger extension confirms
Diagnoses Tetany

Front 70

Rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development

Back 70

DiGeorge Syndrome

Front 71

Where does the early defect occur anatomically in DiGeorge syndrome?

Back 71

3rd or 4th Pharyngeal pouches
Sometimes 4th branchial arch

Front 72

What arises from the 3rd and 4th Pharyngeal pouches which are affected in Digeorge Syndrome?

Back 72

Thymus and Parathyroid Glands

Front 73

What glands are responsible for the maintenance of normal levels of calcium in the blood?

Back 73

Parathyroid glands (Sides of the thyroid)

Front 74

What is the primary problem of DiGeorge syndrome?

Back 74

Repeated occurrence of various infections due to diminished immune system.

Front 75

What does the absence of a thymus result in?

Back 75

T-cell deficiency

Front 76

What can DiGeorge children develop due to the absence of parathyroid glands?

Back 76

Tetany (hypocalcemia)

Front 77

What immunodeficiency disorder is sometimes called "bubble boy" disease?

Back 77

Severe Combined Immunodeficiency Disorder (SCID)

Front 78

What is the most dangerous type of congenital immunodeficiency, which results from a failure of stem cells to differentiate properly. These individuals have neither B- or T- cells and are thus incapable of an immunological response.

Back 78

Severe Combined Immunodeficiency (SCID)

Front 79

When do children generally die from SCID?

Back 79

Before age 2

Front 80

What syndrome affects only boys and is characterized by defective B-cell and T-cell functions? It has clinical features that include thrombocytopenia with severe bleeding, eczema, recurrent infection, and an increased risk of lymphoid cancers.

Back 80

Wiskott-Aldrich Syndrome

Front 81

An inherited disorder that affects many tissues and systems in the body. Can include dilation of the capillaries, ataxic uncoordinated gait, proneness to infection, defective humoral and cellular immunity and increased risk of malignancies.

Back 81

Ataxia-telangiectasia

Front 82

What is the most obvious symptom of Ataxia-telangeictasia?

Back 82

Multiple telangeictasisas seen in whites of the eye and skin by ears and nose

Front 83

An immunodeficiency disorder characterized by very high levels of IgE antibodies and repeated infections, most commonly by Staphylococcus aureus.

Back 83

Hyperimmunoglobulin E Syndrome

Front 84

A tall, infertile male with small testes most likely has what condition?

Back 84

Klinefelter's syndrome

Front 85

A chromosome abnormality that affects only men and causes hypogonadism. A man has XXY chromosomes.

Back 85

Klinefelter's Syndrome

Front 86

What is the prevalence of Klinefelter's Syndrome?

Back 86

1 in 500 men
Symptoms develop in adolescence

Front 87

A birth defect caused by the absence or defect of an X chromosome, which inhibits sexual development and usually causes infertility.

Back 87

Turner's Syndrome

Front 88

What is the prevalence of Turner's Syndrome?

Back 88

1 in 3,000 live births

Front 89

What are the symptoms of Turner's Syndrome in Women?

Back 89

Short Stature
Webbing of neck skin
Absent/retarded 2nd sex charac.
Absence of menstruation
Narrowing of Aorta

Front 90

Rare disorder characterized by the absence of the serum immunoglobulins, and is associated with an increased susceptibility to infection.

Back 90

Agammglobulinemia

Front 91

What are the three forms of Agammaglobulinemia?

Back 91

Transient
Congenital
Acquired

Front 92

What type of Agammaglobulinemia is common in infancy before 6 weeks of age, and has its mature B-cells temporarily unable to produce antibodies?

Back 92

Transient

Front 93

What type of Agammaglobulinemia is rare, sex-linked, and results in decreased production of antibodies?

Back 93

Congenital

Front 94

What is the treatment of Congenital Agammaglobulinemia?

Back 94

Repeated administration of IgG to maintain adequate levels of antibody in circulation.

Front 95

What type of Agammaglobulinemia usually occurs in association with a malignant disease like leukemia, myeloma, or lymphoma?

Back 95

Acquired

Front 96

What agammaglobulinemia syndrome is characterized by all five immunoglobulins and circulating B-cells being absent but T-cells still being intact?

Back 96

Bruton's agammaglobulinemia
Almost exclusively male

Front 97

What causes the B-cells to fail in their maturity in Bruton's agammaglobuliemia?

Back 97

Defection in B-cell protein tyrosine kinase

Front 98

What disease is caused by a mutation on the x chromosome and is considered a primary immunodeficiency?

Back 98

Agammaglobulinemia