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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
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
APGAR Score
1 and 5 Minutes
Appearance
Pulse
Grimace
Activity and Muscle Tone
Respiration
Total Scores
Gentle Stimulation
Oxygen
2 mins
Intrauterine Growth Restriction (IUGR)
Pathophysiology
Slowed Fetal Growth
Symmetric Type
Factors Early in Pregnancy
Genetic (Chromosomal) Abnormalities
Congenital Infections
Asymmetric Type
Preserved Head Circumference
Factors Late in Pregnancy (2nd / 3rd trimester)
Placental Insufficiency
Diagnosis
Ultrasound
< 10th Percentile (for SGA)
Decreased Fundal Height
Complications
Increased Perinatal (Fetal) Morbidity and Mortality
2 mins
Rubella TORCH
Signs and Symptoms
Nonspecific TORCH Symptoms
Patent Ductus Arteriosus
Pulmonary Artery Hypoplasia
Cataracts
Deafness
Blueberry Muffin Rash
Glaucoma
1 min
Syphilis TORCH
Signs and Symptoms
Nonspecific TORCH Symptoms
Often Results in Stillbirth
Hydrops Fetalis
Saber Shins
Notched Teeth
Saddle Nose
Blindness
Deafness
Hepatitis
3 mins
Neonatal Respiratory Distress Syndrome
Cause/Mechanism
Fetal Lung Immaturity
Lack of Surfactant
Assessment
Respiratory Distress
Nasal Flaring
Retractions
Grunting
Interventions
Surfactant
Oxygen
Mechanical Ventilation
Considerations
Total Parenteral Nutrition (TPN)
2 mins
Teratoma
Germ-cell Tumor
Dermoid Cyst (Benign and Mature Teratoma)
Immature Teratoma (Malignant)
Struma Ovarii
2 mins
Wilms' Tumor (Nephroblastoma)
Cause
Malignant Renal Tumor
Assessment
Abdominal Mass
Hematuria
Fever
Hypertension
Interventions
Nephrectomy
Chemotherapy
Radiation
Considerations
Do Not Palpate Abdomen
Children Under 5 Years Old
2 mins
Humoral Adaptive Immunity
Characteristics
B Cell Binds Free Floating Antigen
B Cell Presents Antigen to Helper T Cell
Helper T Cells Help B Cells Develop Antigen Specificity
Antibody Mediated Due to Preformed Antidonor Antibodies
Acute
Occurs within Weeks
Cytotoxic T Lymphocytes Cause Cell-mediated or Antibody-mediated Response
Chronic
Occurs Months to Years Later
Antibody and T Cell-mediated Vascular Damage
2 mins
Systemic Lupus Erythematosus (SLE) Diagnosis and Clinical Features
IM DAMN SHARP acronym
Immunoglobulins
Malar rash
Discoid rash
Antinuclear antibody
Mucositis
Neurologic disorders
Serositis
Hematologic disorders
Arthritis
Renal disorders
Photosensitivity
2 mins
Systemic Lupus Erythematosus (SLE) Mechanism, Treatment and Complications
Mechanism and Characteristics
Systemic Autoimmune Disease
9:1 female to male ratio
Treatment
Glucocorticoids
NSAIDS
Hydroxychloroquine
Cyclophosphamide
Complications
Lupus nephritis
Libman-Sacks Endocarditis
Secondary Antiphospholipid Antibody Syndrome
Other
Drug-induced lupus
2 mins
Sjögren’s Syndrome
Mechanism
Autoimmune Exocrine Gland Destruction
Symptoms (Classic Triad)
Xerostomia
Xerophthalmia
Arthritis
Diagnosis
Anti SS-B (La)
Anti SS-A (Ro)
Schirmer's Test
Salivary Gland Biopsy
Treatment
Symptomatic Treatment
Complications
Lymphoma
Other
Sicca Syndrome
4 mins
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