Joshua Shared "Josh - Main Used" - 59 Picmonics
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Josh - Main Used
Hartnup Disease
- Pathophysiology
- Autosomal Recessive
- Neutral amino acids
- Defective Transporter
- Renal and Intestinal cells
- Signs and Symptoms
- Causes tryptophan excretion in urine
- Leads to Pellagra
- Diarrhea
- Dermatitis
- Dementia
2 mins
DNA Replication
- Characteristics
- DNA Gyrase Uncoils Supercoil
- Helicase Separated DNA Strand
- Single-Strand Binding (SSB) Protein Keeps Strands Separated
- DNA Polymerase Synthesizes New Strand
- 3' To 5' Reading
- Primase Creates RNA Primer
- Telomerase Caps DNA Ends
- DNA Ligase Combines Okazaki Fragments
- Okazaki Fragments On Lagging Strand
4 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
Hunter Syndrome
- Pathophysiology
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- Signs and Symptoms
- No Corneal Clouding
- Aggressive Behavior
1 min
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
MEN 2B (Multiple Endocrine Neoplasia)
- Pathophysiology
- RET Gene
- Autosomal Dominant
- Signs and Symptoms
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- RET Gene
- Signs and Symptoms
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
45 secs
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
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
Marfan Syndrome
- Mechanism
- Fibrillin-1 Mutation
- Symptoms
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
2 mins
Bernard-Soulier Syndrome
- Mechanism
- Autosomal Recessive
- Deficiency of Glycoprotein Ib (GpIb) Receptor
- Symptoms
- Mucosal Membrane Bleeding
- Menorrhagia
- Easy Bruising
- Labs
- Large Platelets
- Increased Bleeding Time
- No Platelet Agglutination with Ristocetin
3 mins
Pharyngeal Arch Derivatives: 1st Arch
- Cartilage
- Meckel's Cartilage
- Mandible
- Malleus
- Incus
- Sphenomandibular Ligament
- Muscles
- Muscles of Mastication
- Tensor Tympani
- Tensor Veli Palatini
- Anterior Belly of the Digastric
- Mylohyoid
- Nerves
- CN V2
- CN V3
- Conditions
- Treacher Collins Syndrome
3 mins
Pharyngeal Arch Derivatives: 2nd Arch
- Cartilage
- Reichert's Cartilage
- Stapes
- Styloid Process
- Lesser Horn of Hyoid
- Stylohyoid Ligament
- Muscles
- Muscles of Facial Expression
- Stapedius
- Stylohyoid
- Platysma
- Posterior Belly of Digastric
- Nerves
- CN VII
- Conditions
- Congenital Pharyngocutaneous Fistula
2 mins
Pharyngeal Arch Derivatives: 3rd Arch
- Cartilage
- Greater Horn of Hyoid
- Muscles
- Stylopharyngeus
- Nerves
- CN IX (Glossopharyngeal)
- Arteries
- Common Carotid
- Internal Carotid
1 min
Pharyngeal Arch Derivatives: 4-6 Arches
- Cartilage
- Thyroid
- Cricoid
- Arytenoids
- Corniculate
- Cuneiform
- Muscles
- 4th: Cricothyroid
- 4th: Pharyngeal Constrictors
- 6th: Intrinsic Muscles of Larynx
- Nerves
- 4th: CN X (Vagus Nerve)
- Superior Laryngeal Branch
- 6th: CN X (Vagus Nerve)
- Recurrent Laryngeal Branch
2 mins
Chronic Granulomatous Disease
- Pathophysiology
- Most Commonly X-linked Recessive
- Defective NADPH Oxidase (Enzyme Complex)
- Decreased Hydrogen Peroxide
- Impaired Intracellular Killing in Phagocytes
- Signs and Symptoms
- Recurrent Purulent Skin and Lung Infections
- Catalase Positive Organisms
- Diagnosis
- Negative Nitroblue Tetrazolium Test
- DHR (Dihydrorhodamine) Flow Cytometry
- Treatment
- Antimicrobial Prophylaxis
- TMP-SMX
- Itraconazole
- Interferon-Gamma
3 mins
Homocystinuria
- Pathophysiology
- Autosomal Recessive
- 4 Forms
- Cystathionine Synthase Deficiency
- Decreased Affinity of Cystathionine Synthase For Vitamin B6
- Methionine Synthase Deficiency
- Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
- Signs and Symptoms
- Marfanoid Body Habitus
- Kyphosis
- Lens Subluxation (Inferior)
- Intellectual Disability
- Atherosclerosis
- Consideration
- Dietary Deficiencies Can Elevate Homocysteine Levels
3 mins
Friedreich's Ataxia
- Trinucleotide Repeat
- GAA Repeat
- Frataxin
- Mitochondrial Dysfunction
- Autosomal Recessive
- Hammertoes
- High Arches
- Kyphoscoliosis
- Lateral Corticospinal Tract
- Posterior Column
- Spinocerebellar Tract
- Type I Diabetes Mellitus
- Hypertrophic Cardiomyopathy
1 min
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
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