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Kate Shared "UTMB Pathophysiology: Module 6" - 35 Picmonics

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UTMB Pathophysiology: Module 6

Prader-Willi Syndrome
Mechanism
Maternal Imprinting
Deletion of Chromosome 15q (Paternal Deletion)
Signs And Symptoms
Hyperphagia
Truncal Obesity
Hypogonadism
Undescended Testicles (Cryptorchidism)
Intellectual Disability (Mental Retardation)
Neonatal Hypotonia (Floppy Baby)
Almond Shaped Eyes
Narrow Bifrontal Diameter
Thin Upper Lip
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3 mins
Angelman's Syndrome
Mechanism
Paternal Imprinting
Deletion of Chromosome 15q (Maternal Deletion)
Signs And Symptoms
Happy Puppet Syndrome
Inappropriate Laughter
Ataxia
Severe Intellectual Disability (Mental Retardation)
Seizure
Abnormal EEG
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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
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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
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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
Pancreatin, Pancrelipase (Pancreatic Enzymes)
Mechanism
Pancreatic Enzymes
Indications
Cystic Fibrosis
Pancreatic Insufficiency
Side Effects
GI Distress
Considerations
Inactivated by Gastric Acid
24 Hour Fat Excretion
Take with Every Meal and Snack
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2 mins
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
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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
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2 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
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1 min
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
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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)
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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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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
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3 mins
Zellweger Syndrome
Pathophysiology
Peroxisome Dysfunction
Autosomal Recessive
PEX Gene Mutation
Clinical Features
Hypotonia
Seizures
Hepatomegaly
Polycystic Kidney Disease
Diagnosis
Increased Very Long-chain Fatty Acids (VLCFA)
Management
Supportive Care
Considerations
Poor Prognosis
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3 mins
Type I Spinal Muscular Atrophy
Pathophysiology
Lower Motor Neuron Disease
SMN1 Mutation
Degeneration of Anterior Horn Cells
Autosomal Recessive
Clinical Features
Symmetric Flaccid Paralysis
Hypotonia
Bulbar Palsy
Extraocular Muscle Sparing
Respiratory Failure
Diagnosis
Genetic Testing
Treatment
Supportive Therapy
Nusinersen
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3 mins
Adrenoleukodystrophy
Pathophysiology
X-linked Recessive
Peroxisome Dysfunction
ABCD1 Mutation
Presentation
Adrenal Insufficiency
Leukoencephalopathy
Testicular Insufficiency
Diagnosis
Increased Very Long-chain Fatty Acids (VLCFA)
Demyelination
Genetic Testing
Treatment
Lorenzo's Oil
Hematopoietic Stem Cell Transplantation
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3 mins
Li-Fraumeni Syndrome
Pathophysiology
Autosomal Dominant
TP53 Mutation
Loss of Heterozygosity
Clinical Features
Osteosarcoma
Breast Cancer
Brain Tumors
Leukemia/Lymphoma
Adrenocortical Carcinoma
Management
Supportive Care
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3 mins
Refsum Disease
Pathophysiology
Autosomal Recessive
Peroxisome Dysfunction
Increased Phytanic Acid
Clinical Features
Retinitis Pigmentosa
Hearing Loss
Polyneuropathy
Anosmia
Ataxia
Diagnosis
Genetic Testing
Management
Dietary Changes
Plasmapheresis
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3 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
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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
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2 mins

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Kate Shared UTMB Pathophysiology: Module 6 - 35 Picmonics