Vlad Shared "biochem" - 92 Picmonics
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biochem
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
Bronchiectasis
- Obstructive Lung Disease
- Chronic Necrotizing Infection
- Permanent Airway Dilation
- Poor Ciliary Motility
- Kartagener's Syndrome
- Cystic Fibrosis
- Allergic Bronchopulmonary Aspergillosis
- Hemoptysis
- Increased Sputum
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
Ehlers-Danlos Syndrome Disease
- Pathophysiology
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Signs and Symptoms
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Considerations
- Brighton Criteria
2 mins
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
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
Emphysema
- Clinical Features
- Pink Puffer
- Exhale through Pursed Lips
- Barrel Chest
- Pathophysiology
- Obstructive Lung Disease
- Increased Lung Compliance
- Types
- Centriacinar
- Panacinar
2 mins
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 2A (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- RET Gene
- Signs and Symptoms
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
45 secs
MEN 2B (Multiple Endocrine Neoplasia)
- Pathophysiology
- RET Gene
- Autosomal Dominant
- Signs and Symptoms
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
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
Tuberous Sclerosis
- Characteristics
- Autosomal Dominant
- Signs and Symptoms
- Hamartomas in CNS and Skin
- Phakoma
- Subependymal Giant Cell Astrocytoma
- Seizures
- Intellectual Disability (Mental Retardation)
- Adenoma Sebaceum
- Shagreen Patch
- Ash-leaf Spots
- Renal Angiomyolipoma
- Cardiac Rhabdomyoma
2 mins
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
Orotic Aciduria
- Pathophysiology
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Symptoms
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Treatment
- Oral Uridine Monophosphate
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
Cystic Fibrosis Assessment
- Thickened Mucus
- Recurrent Pulmonary Infections
- Pulmonary Congestion
- Pancreatic Insufficiency
- Steatorrhea
- Fat-Soluble Vitamin Deficiencies
- Salty Taste to Skin
- Meconium Ileus
- Delayed Growth and Poor Weight Gain
2 mins
Hurler Syndrome
- Pathophysiology
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Signs and Symptoms
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
2 mins
