Arturo Shared "Genetics" - 43 Picmonics

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Genetics

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
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
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
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
Turner Syndrome
Signs and Symptoms
Female (XO)
Short stature
Shield Chest
Cystic Hygroma (Webbing of Neck)
Lymphedema in Hands and Feet
Ovarian Dysgenesis
Streak Ovary
Decreased Estrogen
Increased FSH
Increased LH
Dysgerminoma
Bicuspid Aortic Valve
Preductal Coarctation of the Aorta
Horseshoe Kidney
Menopause before Menarche
Amenorrhea
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5 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)
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6 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
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2 mins
MEN 2A (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
RET Gene
Signs and Symptoms
Medullary Thyroid carcinoma
Calcitonin
Parathyroid
Pheochromocytoma
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44 secs
MEN 2B (Multiple Endocrine Neoplasia)
Pathophysiology
RET Gene
Autosomal Dominant
Signs and Symptoms
Medullary Thyroid Carcinoma
Pheochromocytoma
Marfanoid Body Habitus
Oral Ganglioneuromatosis
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55 secs
Chronic Myelogenous Leukemia (CML)
Age 30 to 90 Years
BCR-ABL
9;22 Translocation
Philadelphia Chromosome
Tyrosine Kinase
Low Alkaline Phosphatase (ALK-P)
Splenomegaly
Blast Crisis can Accelerate and Transform to AML or ALL
Imatinib (Gleevec)
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2 mins
Melanoma Mechanism and Characteristics
Mechanism
Associated with Sunlight Exposure
Mutation in B-RAF kinase
Large Number of Moles
Fair-Skinned people at higher risk
Growth Phases
Radial Growth Phase
No Metastasis
Vertical Growth Phase
Depth of tumor correlates with risk of metastasis
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1 min
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Characteristics
Autosomal Dominant
Defective DNA Mismatch Repair
80% Risk of Colon Cancer Development
Proximal (Right) Colon
Type II associated with Endometrial, Ovarian and Skin Cancers
3-2-1 Rule
3 Relatives with Colon Cancer
Occurs Across 2 Generations
1 Relative Diagnosed < 50 Years Old
Treatment
Frequent Screening
Colectomy
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3 mins
Ovarian Cystadenocarcinoma
Non-germ Cell Tumor
Mucinous
Peritoneal Spread
Serous
Psammoma Bodies
Bilateral
Malignant
Stromal Invasion
CA 125
BRCA-1 and Lynch Syndrome
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1 min
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
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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
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1 min
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
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2 mins
Ornithine Transcarbamylase Deficiency
Pathophysiology
Most Common Urea Cycle Disorder
X-Linked Recessive
Signs and Symptoms
Hyperammonemia
Decreased BUN
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
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3 mins
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Intellectual Disability (Mental Retardation)
Seizures
Subependymal Giant Cell Astrocytoma
Adenoma Sebaceum
Shagreen Patch
Ash-leaf Spots
Renal Angiomyolipoma
Cardiac Rhabdomyoma
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2 mins
Sickle Cell Anemia (Mechanism)
Intrinsic Normocytic Hemolytic Anemia
Point Mutation
Autosomal Recessive
African-American
Dehydration or Decreased O2
Newborns Asymptomatic
Heterozygote Malarial Resistance
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2 mins

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