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
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
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
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
3 mins
Down Syndrome
- Pathophysiology
- Trisomy 21
- Meiotic Nondisjunction
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Single palmar 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
3 mins
Patau Syndrome
- Pathophysiology
- Trisomy 13
- Signs and Symptoms
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
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
- Cardiac Abnormalities
3 mins
Williams Syndrome
- Pathophysiology
- Microdeletion Of Long Arm Of Chromosome 7
- Elastin Gene
- Signs and Symptoms
- Elfin Facies
- Intellectual Disability
- Extreme Friendliness with Strangers
- Well Developed Verbal Skills
- Cardiovascular Problems
- Hypercalcemia
- Increased Sensitivity To Vitamin D
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
2 mins
Beriberi (Thiamine Deficiency)
- Thiamine Deficiency
- Dry Beriberi
- Polyneuritis
- Muscle Wasting
- Wet Beriberi
- Dilated Cardiomyopathy
- Edema
51 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
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
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 A (Retinol) Toxicity
- Signs and Symptoms
- Alopecia
- Vision Changes
- Headache
- Skin Changes
- Hyperlipidemia
- Hepatotoxicity
- Arthralgias
- Teratogen
- Cleft palate
- Cardiac Abnormalities
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
2 mins
Vitamin B6 (Pyridoxine) Deficiency
- Deficiency From Isoniazid
- Deficiency From Oral Contraceptives
- Seizures
- Hyperirritability
- Peripheral Neuropathy
- Sideroblastic Anemia
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
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
Vitamin B6 (Pyridoxine)
- Pyridoxal Phosphate
- Mechanism
- Transamination
- Decarboxylation
- Glycogen Phosphorylase
- Cystathionine Synthase
- Functions
- Heme Synthesis
- Niacin Synthesis
- Neurotransmitter Synthesis
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
2 mins
