Humza Shared "STEP1 Prep" - 184 Picmonics

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STEP1 Prep

Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Simian Crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
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2 mins
Quad Screen Results Interpretation
Markers
AFP
Estriol
hCG
Inhibin A
Aneuploidies
Down Syndrome = HIgh
Turner Syndrome = Very HIgh
Edward Syndrome = Low HEAp
Patau Syndrome = AFP is Normal
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2 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
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2 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
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2 mins
Lab and Diagnostic Tests During Pregnancy (Other Visits)
Diagnosis
10-13 Weeks
Offer Chorionic Villus Sampling (CVS)
15-18 Weeks
Quad Screen
18-20 Weeks
Ultrasound
Anatomic Screening
24-28 Weeks
One-Hour Glucose Challenge Test
35-37 Weeks
Streptococcus Agalactiae
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3 mins
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
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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
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2 mins
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
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2 mins
Vitamin A (Retinol) Function and Deficiency
Mechanism
Retinol
Constituent of Visual Pigments
Differentiation of Epithelial Cells into Specialized Tissue
Signs and Symptoms
Night Blindness
Dry Skin
Considerations
Used to Treat Measles
Antioxidant
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2 mins
Vitamin A (Retinol) Toxicity
Signs and Symptoms
Alopecia
Vision Changes
Headache
Skin Changes
Hyperlipidemia
Hepatotoxicity
Arthralgias
Teratogen
Cleft palate
Cardiac Abnormalities
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3 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
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2 mins
Riboflavin (Vitamin B2)
Classification
Vitamin B2
Biochemistry
FAD
FAD Makes 1.5 ATP
Succinate to Fumarate
DEFICIENCY
Glossitis
Cheilosis
Corneal Vascularization
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2 mins
Beriberi (Thiamine Deficiency)
Thiamine deficiency
Dry beriberi
Polyneuritis
Muscle wasting
Wet beriberi
Dilated Cardiomyopathy
Edema
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50 secs
Vitamin B6 (Pyridoxine)
Pyridoxal Phosphate
Mechanism
Transamination
Decarboxylation
Glycogen Phosphorylase
Cystathionine Synthase
Functions
Heme Synthesis
Niacin Synthesis
Neurotransmitter Synthesis
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2 mins
Vitamin B6 (Pyridoxine) Deficiency
Deficiency From Isoniazid
Deficiency From Oral Contraceptives
Seizures
Hyperirritability
Peripheral Neuropathy
Sideroblastic Anemia
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3 mins
Folate Deficiency
Causes
Macrocytic Anemia
Megaloblastic Anemia
Caused by
Malabsorption
Dietary
Tea and Toast
Alcoholics
Medication-induced
Methotrexate
Trimethoprim
Increased Requirement
Hemolytic Anemia
Pregnancy
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2 mins
Vitamin B12 (Cobalamin) Mechanism and Deficiency
Mechanism
Cobalamin
Large reserve pool in the liver
Homocysteine to methionine
Methylmalonyl CoA to succinyl CoA
Deficiency Signs and Symptoms
Macrocytic Megaloblastic Anemia
Hypersegmented Neutrophils
Neurologic defects
Posterior column
Lateral corticospinal tract
Spinocerebellar tract
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5 mins
Vitamin B12 (Cobalamin) Deficiency Causes
Causes
Vegans
Pernicious Anemia
Gastric Bypass Surgery
Malabsorption
Sprue
Enteritis
Crohn's Disease
Diphyllobothrium latum
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4 mins
Zinc Deficiency
Mechanism
Used in Over 100 Enzymes
Zinc Finger Formation
Signs and Symptoms
Delayed Wound Healing
Hypogonadism
Decreased Adult Hair
Dysgeusia
Anosmia
Perioral Rash
Acrodermatitis Enteropathica
Increased Risk in Patients with Cirrhosis
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2 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
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2 mins

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