Sarah Shared "Step-Biochem" - 64 Picmonics

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Step-Biochem

MEN 1 (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
Menin Mutation (Tumor Suppression Gene)
Chromosome 11
Signs and Symptoms
Pancreatic Endocrine Tumors
Pituitary Tumors
Parathyroid Adenomas
2 mins
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
1 min
Adenosine Deaminase Deficiency
Adenosine to inosine
Excess ATP
Inhibition of Ribonucleotide Reductase
Prevents DNA synthesis
Decreases B Cells and T Cells
Major cause of SCID
1 min
Alport Syndrome
Pathophysiology
Nephritic
X-linked
Mutation in Type IV Collagen
Diagnosis
Split Basement Membrane
Basket Weave Appearance
Signs and Symptoms
Ocular Disorders
Deafness
2 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
4 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
RET Gene
Signs and Symptoms
Medullary Thyroid carcinoma
Calcitonin
Parathyroid
Pheochromocytoma
44 secs
MEN 2B (Multiple Endocrine Neoplasia)
Pathophysiology
RET Gene
Autosomal Dominant
Signs and Symptoms
Medullary Thyroid Carcinoma
Pheochromocytoma
Marfanoid Body Habitus
Oral Ganglioneuromatosis
55 secs
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
2 mins
Cystic Fibrosis Mechanisms
Autosomal Recessive
CFTR chromosome 7
Cl- channel defect
Decreased chloride secretion
Increased Na and water reabsorption
Increased Na and Cl in sweat
Dehydration of mucous layers
2 mins
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Chronic Bronchitis
Nasal Polyps
Pancreatic Insufficiency
Intestinal Obstruction
Malabsorption and Diarrhea
Vitamin Deficiencies
Chronic Hepatic Disease
Infertility in Males
1 min
Cystic Fibrosis Diagnosis and Treatment
Diagnosis
Sweat chloride test > 60 mmol/L
Meconium Ileus
Treatment
N-acetylcysteine
Antibiotic Prophylaxis
Pulmonary Maintenance
Lung transplant
Vitamin Replacement
1 min
Cri Du Chat
Pathophysiology
Congenital Deletion of Short Arm of Chromosome 5p
Signs and Symptoms
High Pitched Cry/Mewing
Microcephaly
Hypotonia
Difficulty Sucking and Swallowing
Epicanthal Folds
Widely Spaced Eyes
Wide & Flat Nasal Bridge
High Arched Palate
Intellectual Disability (Mental Retardation)
Cardiac Abnormalities
2 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability (Mental Retardation)
Extreme Friendliness With Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
2 mins
Vitamin K
Sources
Dark Green Leafy Vegetables
Synthesized by Intestinal Flora
Mechanism
Activated by Epoxide Reductase
Gamma Carboxylation of Glutamate
Activation of Clotting Factors II, VII, IX, X, Protein C and S
Considerations
Deficiency with Broad Spectrum Antibiotics
Neonatal Hemorrhage with Increased PT and aPTT
Warfarin is a Vitamin K Antagonist
4 mins
Vitamin C Mechanism and Deficiency
Mechanism
Ascorbic acid
Antioxidant
Protects Against Free Radicals
Keeps Iron in Reduced State
Hydroxylation of Proline and Lysine
Necessary for Dopamine B Hydroxylase
Deficiency Signs and Symptoms
Scurvy
Swollen Gums
Bruising
Poor Wound Healing
Hemarthrosis
Perifollicular Hemorrhages
Anemia
4 mins
Vitamin B1 (Thiamine)
Mechanism
Branched-chain Ketoacid Dehydrogenase
Pyruvate Dehydrogenase
Alpha-ketoglutarate Dehydrogenase
Transketolase
DEFICIENCY EFFECTS
Wernicke-Korsakoff Syndrome
Beriberi
ATP Depletion
Aerobic Tissues Like Brain and Heart Affected First
Considerations
Deficiency Can Worsen with Glucose Infusion
2 mins
Wernicke-Korsakoff Syndrome
Thiamine deficiency
Confusion
Ophthalmoplegia
Ataxia
Korsakoff
Confabulation
Personality Changes
Memory loss
Alcoholics
Damage to medial dorsal nucleus
Damage to mammillary bodies
2 mins
Riboflavin (Vitamin B2)
Classification
Vitamin B2
Biochemistry
FAD
FAD Makes 1.5 ATP
Succinate to Fumarate
DEFICIENCY
Glossitis
Cheilosis
Corneal Vascularization
2 mins
Vitamin B5 (Pantothenate)
Mechanism
Pantothenate
Pyruvate Dehydrogenase
Coenzyme A
Fatty Acid Synthase
Deficiency Signs and Symptoms
Enteritis
Dermatitis
Alopecia
Adrenal Insufficiency
2 mins

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