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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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