Megha Shared "1/26" - 34 Picmonics

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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
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1 min
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
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2 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
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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
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
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
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
Beriberi (Thiamine Deficiency)
Thiamine deficiency
Dry beriberi
Polyneuritis
Muscle wasting
Wet beriberi
Dilated Cardiomyopathy
Edema
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50 secs
Wernicke-Korsakoff Syndrome
Thiamine deficiency
Confusion
Ophthalmoplegia
Ataxia
Korsakoff
Confabulation
Personality Changes
Memory loss
Alcoholics
Damage to medial dorsal nucleus
Damage to mammillary bodies
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2 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
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 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 B6 (Pyridoxine) Deficiency
Deficiency From Isoniazid
Deficiency From Oral Contraceptives
Seizures
Hyperirritability
Peripheral Neuropathy
Sideroblastic Anemia
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3 mins
Vitamin B3 (Niacin)
Derived from Tryptophan
Synthesis Requires Vitamin B6
Constituent of NAD+
Deficiency Causes
Hartnup Disease
Carcinoid Syndrome
Deficiency Symptoms
Pellagra
Diarrhea
Dermatitis
Dementia
Glossitis
Excess Symptoms
Flushing
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1 min
Vitamin B5 (Pantothenate)
Mechanism
Pantothenate
Pyruvate Dehydrogenase
Coenzyme A
Fatty Acid Synthase
Deficiency Signs and Symptoms
Enteritis
Dermatitis
Alopecia
Adrenal Insufficiency
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2 mins
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
Biotin (Vitamin B7)
Mechanism
Carboxylation reaction
Pyruvate carboxylation to oxaloacetate
Propionyl-CoA carboxylation to methylmalonyl-CoA
Acetyl-CoA carboxylation to malonyl CoA
Deficiency Causes
Antibiotic Use
Ingestion of Raw Eggs
Signs & Symptoms
Alopecia
Dermatitis
Enteritis
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2 mins

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