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This microtubule associated motor protein which carries synpatic vesicles down axons to nerve terminals.
Kinesin
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What are the findings of Sarcoidosis?
- Noncaseating granuloma
- ↑Serum Angiotensin-converting enzyme
- Hypercalcemia
- Bilateral hiliar/mediastinal adenopathy
- Pulmonary reticular infiltrates
- Negative PPD
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What is idiopathic pulmonary fibrosis?
Repeated cycles of lung injury and wound healing with ↑collagen deposition.
↑Neutrophils
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In this type of bias, there is a loss to follow-up between exposed and unexposed groups.
Attrition bias, a form of selection bias.
-
What is Attrition bias?
A type of selection bias that occurs due to loss of participants in a study.
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What is the Bohr effect?
In peripheral tissues, high concentrations of CO2 and H+ facilitate oxygen unloading from hemoglobin.
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What is Haldane effect?
In the lungs the binding of oxygen from hemoglobin drives the release of H+ and CO2 from hemoglobin.
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What is the most common cause of fetal hydronephrosis?
- Inadequate recanalization of the ureteropelvic junction
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Acute nausea and vomiting following administration from chemotherapy results from?
Stimulation of the chemoreceptor trigger zone in the area postrema of the dorsal medulla near the 4th ventricle
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Which of the following brain sites is responsible for nausea and vomiting following chemotherapy?
D- Chemoreceptor trigger zone in Area postrema
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Early onset of familial Alzheimer disease is associated with which gene mutations?
- Amyloid precursor protein (APP) on chromosome 21
- Presenilin-1
- Presenilin-2
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Late onset of familial Alzheimer disease is associated with which gene mutation?
ε4 allele of Apolipoprotein E (Apo-E4)
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Gene mutation of ε2 allele of Apolipoprotein E (Apo-E2) is associated with?
↓risk of familial Alzheimers disease
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Gene mutation of ε4 allele of Apolipoprotein E (ApoE4) is associated with?
Late onset of familial Alzheimers disease(↑risk)
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Gene mutation of amyloid precursor protein is associated with?
Early onset of familial Alzheimer disease
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Gene mutation of Presenilin-1 and 2 is associated with?
Early onset of familial Alzheimer disease
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This familial dyslipidemia is characterized by an absent or defective low-density lipoprotein receptor.
- Type IIa
- Familial hypercholesterolemia
- Decreased hepatic LDL uptake and severe elevation in total cholesterol and LDL levels.
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Describe the pathology in Familial hypercholesterolemia.
- Defective low-density lipoprotein receptor.
- This defect causes decreased hepatic LDL uptake and severe elevation in total cholesterol and LDL levels.
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β-myosin heavy chain mutation is characteristic of which disease?
Hypertrophic cardiomyopathy
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What type of mutation is seen in Hypertrophic cardiomyopathy?
β-myosin heavy chain mutation
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How do we calculate blood flow through a vessel?
Q= P1-P2/ R
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When does implantation occur?
6 days after ovulation
-
When does β-hGC secretion occur?
8 days after ovulation
-
How do we calculate attributable risk with respect to relative risk?
AR= (RR-1)/ RR
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What gene is mutated in Friedreich ataxia?
Trinucleotide repeat disorder (GAA) on chromosome 9 in gene that encodes frataxin (iron binding protein)
-
This disease has a gene mutation on chromosome 9
Friedreich ataxia
-
This disease is characteristic of a gene mutation that encodes frataxin.
- Friedreich ataxia
- Trinucleotide repeat disorder (GAA) on chromosome 9 in gene that encodes frataxin (iron binding protein)
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What are the causes of death in Friedreich ataxia?
- 1. Hypertrophic cardiomyopathy
- 2. Bulbar dysfunction (unable to protect airway)
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This disease presents in childhood with Kyphoscoliosis.
Friedreich ataxia
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What is the pathology seen below and in which disease is it usually found?
Pes cavus- Freidreich ataxia, Charcot-marie tooth disease
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What is the pathology seen below and in which disease is it usually found?
Hammer toes- Friedreich ataxia
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Which diseases are ppts with Friedreich's ataxia at high risk of developing?
- Diabetes mellitus
- Hypertrophic cardiomyopathy
-
Describe the presentation of Friedreich ataxia.
- Presents in childhood with kyphoscoliosis.
- Gait ataxia -progressively slow and clumsy walking
- Staggering gait, frequent falling
- Wide based gait with difficulty maintaining balance is characteristic.
- Loss of position and vibration sensation (degeneration of dorsal columns and spinocerebellar tracts)
- Pes cavus
- Hammer toes
- Diabetes mellitus
- Hypertrophic cardiomyopathy
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Describe the presentation and findings of Severe combined immunodeficiency.
- Presentation: Presents in infancy as failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal and protozoal infections.
- Findings: Absent thymic shadow, absent germinal centers and absent T cells, hypogammaglobulinemia, ↓T cell receptor excision circles
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What causes Severe combined immunodeficiency disorder?
- Defective IL-2R gamma chain
- Adenosine deaminase deficiency
-
Describe the effects of the Metyrapone stimulation test.
- 1. Metyrapone blocks cortisol synthesis by inhibiting 11-β hydroxylase, which converts 11-deoxycortisol to cortisol
- 2. ↓Cortisol causes ↑ACTH which leads to ↑production of 11-deoxycortsiol, which is further metabolized to the liver to 17-hydroxycorticosteroids that accumulate in the urine.
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What does the Falciform ligament connect?
- Liver to anterior abdominal wall
-
This ligament connects the liver to the anterior abdominal wall.
Falciform ligament
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Which structures are contained in the Falciform ligament?
Ligamentum teres hepatis (derivative of fetal umbilical vein)
-
This ligament contains the ligamentum teres hepatis.
Falciform ligament
-
This structure is a derivative of the fetal umbilical vein. In which ligament is it contained?
- Ligamentum teres hepatis
- Contained in the Falciform ligament which connects the liver to the anterior abdominal wall.
-
Where is the Falciform ligament derived from?
Ventral mesentery
-
What does the hepatoduodenal ligament connect?
- Liver to duodenum
-
This ligament connects the liver to duodenum.
Hepatoduodenal ligament (derivative of lesser omentum)
-
Which structures are contained in the Hepatoduodenal ligament?
- Proper hepatic artery
- Portal vein
- Common bile duct
-
What does the Gastrohepatic ligament connect?
- Liver to lesser curvature of the stomach
-
This ligament connects the liver to the lesser curvature of the stomach.
Gastrohepatic ligament
-
The lesser omentum is divided into two ligaments. What are they?
- 1. Hepatoduodenal ligament
- 2. Gastrohepatic ligament
-
Which structures are contained in the gastrohepatic ligament?
Gastric arteries
-
This ligament contains the gastric arteries.
- Gastrohepatic ligament
- Conncts the liver to the lesser curvature of the stomach
-
What does the gastrocolic ligament connect?
- Greater curvature and transverse colon
-
This ligament connects the greater curvature of the stomach to the transverse colon.
- Gastrocolic ligament
-
This ligament contains the gastroepiploic arteries.
Gastrocolic ligament
-
Which structures are contained in the Gastrocolic ligament?
- Gastroepiploic arteries/ Gastro-omental arteries
-
What does the gastrosplenic ligament connect?
- Greater curvature and spleen
-
This ligament connects the greater curvature and the spleen.
- Gastrosplenic ligament
-
Which structures are contained in the gastospenic ligament?
- Short gastrices
- Left gastroepiploic vessels
-
The short gastrics are contained in this ligament.
Gastrosplenic ligament
-
The left gastroepiploic vessels are contained in this ligament.
Gastrosplenic ligament
-
What does the splenorenal ligament connect?
Spleen to posterior abdominal wall
-
This ligament connects the spleen to the posterior abdominal wall.
Splenorenal ligament
-
This ligament contains the splenic artery.
Splenorenal ligament
-
This ligament contains the splenic vein.
Splenorenal ligament
-
This ligament contains the tail of the pancreas.
Splenorenal ligament
-
Which structures are contained in the Splenorenal ligament?
- Splenic artery and vein
- Tail of pancreas
-
In females, no fusion of the urogenital folds result in?
Formation of the labia minora
-
In males, incomplete fusion of the urogenital/ urethral folds result in?
Hypospadias- abnormal opening of penile urethra on ventral surface of the penis
-
What causes Hypospadias?
Failure of the urethral folds to fuse in males results in an abnormal opening of penile urethra on the ventral surface of the penis.
-
Where does the labia minora form from?
Nonfusion of the urethral folds
-
What does the urethral folds become in males and females respectively?
- Ventral shaft of the penis (penile urethra) in males.
- Labia minora in females.
-
What causes Epispadias?
Faulty positioning of the genital tubercule causes abnormal positioning of penile urethra on dorsal surface of penis.
-
What does the genital tubercule develop into?
- Penis and Clitoris
- Corpus cavernosum and spongiosum
- Vestibular bulbs
-
What causes a bifid scrotum?
Bifid scrotum (2 separate sacs) results from the malunion of labioscrotal folds
-
What does the labioscrotal swelling differentiate to in males and females respectively?
-
Where does the scrotum differentiate from?
Labioscrotal swelling
-
Where does the labia majora develop from?
Labioscrotal swelling
-
Deletion of a single nucleotide causes this type of mutation.
Frameshift mutation
-
What is a frameshift mutation?
- Deletion or insertion of any number of nucleotides that are NOT multiples of three.
- Usually results in a nonfunctional protein
-
What is a conservative mutation?
A type of missense mutation in which one amino acid is replaced with another amino acid that has similar biochemical characteristics.
-
What is a Missense mutation?
- Nucleotide substitution resulting in changed amino acid.
- It is called conservative if the new amino acid is similar in chemical structure.
-
What is a nonsense mutation?
Nucletide substitution resulting in early stop codon- UAA, UGA, UAG
-
What toxicity can arise from the use of Halothane?
Hepatotoxicity- occurs after surgery
-
Why is it that antibodies do not confer immunity against hepatitis C virus?
- Because there are variations in the antigenic structure of the virus.
- Also, there is no proofreading 3'→5' exonuclease activity in the RNA polymerase. As a result, there are many uncorrected mutations.
-
How do we calculate filtration fraction?
- FF= GFR/RPF
- (RPF=Renal plasma flow)
-
What are the effects of ureteral constriction on filtration fraction and GFR?
↓FF and ↓GFR
-
What causes Classic galactosemia?
- Absense of galactose-1-phosphate-uridyltransferase
- Converts Galactose-1-Phosphate → Glucose-1-Phosphate
-
In this disease, there is a deficiency of galctose-1-phosphate-uridyltransferase.
- Classic galactosemia
- Cant convert Galactose-1-Phosphate to Glucose-1-phosphate
-
Describe the presentation of Classic galactosemia.
- Presents as failure to thrive soon after breastfeeding is begun
- Vomiting
- Jaundice
- Hepatomegaly
- Infantile cataracts
- Intellectual disability
-
What complication can arise from Classic galactosemia?
Can lead to E.coli sepsis in neonates
-
How do we treat classic galactosemia?
Exclude galactoe and lactose (galactoe + glucose) from diet.
-
What is Generalized anxiety disorder?
- Anxiety lasting>6 months
- Excessive worry over several different issues accompanied by sleep disturbance, fatigue, GI disturbance, difficulty concentrating
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