Ace Your Biochemistry Classes and Exams with Picmonic: #1 Visual Mnemonic Study Tool for Physician Assistant Students
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Biochemistry | Physician Assistant School Study Aid
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
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
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
2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
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
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
2 mins
Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
6 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
Kartagener Syndrome (Primary Ciliary Dyskinesia)
inheritance pattern
Autosomal Recessive
pathogenesis
Immotile Cilia Due to a Dynein Arm Defect
Symptoms
Decreased Male and Female Fertility
Immotile Sperm
Dysfunctional Fallopian Tube Cilia
Increased Risk of Ectopic Pregnancy
Bronchiectasis
Recurrent Sinusitis
Chronic Ear Infections
Conductive Hearing Loss
Situs Inversus (Dextrocardia on Chest X-Ray)
SCreening
Decreased Nasal Nitric Oxide Used as Screening Test
5 mins
Rett Syndrome
Pathogenesis
Sporadic Neurological Disorder
De Novo Mutation of MECP2 on X Chromosome
RISK FACTORS & SYMPTOMS
Seen Almost Exclusively In Girls
Affected Males Die in Utero or Shortly After Birth
Symptoms Usually Appear Between Ages 1-4
Developmental Regression
Motor Impairment
Intellectual Disability (Mental Retardation)
Loss of Verbal Abilities
Seizure
Stereotyped Hand Wringing
Decelerated Head Growth (Microcephaly)
Breathing Problems
Ataxia
5 mins
Kearns-Sayre Syndrome
Characteristics
Mitochondrial Disease
Clinical Findings
Ophthalmoplegia
Retinitis Pigmentosa
Heart Block
42 secs
Xeroderma Pigmentosum
Pathophysiology
Defective Nucleotide Excision Repair
Pyrimidine Dimer Accumulation
Autosomal Recessive
Susceptible to UVA and UVB Rays
Presentation
Actinic Keratosis
Neurodegeneration
Photosensitivity
Corneal Ulcers
Hyperpigmented Lentigines
Considerations
Increased Risk of Skin Cancer
3 mins
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