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Situs Inversus

Association(s):
Kartagener Syndrome (AR)
Dynein arm defect --> immotile cilia --> dysfunctional ciliated epithelia

Symptoms:
- Developmental abnormalities due to impaired migration and orientation (i.e., Sinus inversus, hearing loss due to dysfunctional Eustachian tube cilia
-Recurrent infections (e.g. sinusitis, ear infections, bronchiectasis due to impaired ciliary clearance of debris/pathogens)
-Infertility (increase risk of ectopic pregnancy due to dysfunctional fallopian tube cilia and immotile spermatozoa)

Test: Nasal nitric oxide --> decreased
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Terms in this set (142)
Situs Inversus

Association(s):
Kartagener Syndrome (AR)
Dynein arm defect --> immotile cilia --> dysfunctional ciliated epithelia

Symptoms:
- Developmental abnormalities due to impaired migration and orientation (i.e., Sinus inversus, hearing loss due to dysfunctional Eustachian tube cilia
-Recurrent infections (e.g. sinusitis, ear infections, bronchiectasis due to impaired ciliary clearance of debris/pathogens)
-Infertility (increase risk of ectopic pregnancy due to dysfunctional fallopian tube cilia and immotile spermatozoa)

Test: Nasal nitric oxide --> decreased
Image: Situs Inversus Association(s): Kartagener Syndrome (AR) Dynein arm defect --> immotile cilia --> dysfunctional ciliated epithelia Symptoms: - Developmental abnormalities due to impaired migration and orientation (i.e., Sinus inversus, hearing loss due to dysfunctional Eustachian tube cilia -Recurrent infections (e.g. sinusitis, ear infections, bronchiectasis due to impaired ciliary clearance of debris/pathogens) -Infertility (increase risk of ectopic pregnancy due to dysfunctional fallopian tube cilia and immotile spermatozoa) Test: Nasal nitric oxide --> decreased
Smudge Cells --> Chronic Lymphoid Leukemia (CLL)
Image: Smudge Cells --> Chronic Lymphoid Leukemia (CLL)
Gum Erosion --> Scurvy (Vitamin C Deficiency)
Image: Gum Erosion --> Scurvy (Vitamin C Deficiency)
Horseshoe Kidney --> Turner Syndrome (45XO)

Clinical Features:
-Short stature
-Ovarian dysgenesis (streak ovary)
-Shield chest
-Bicuspid aortic valve
-Coartation of the aorta (brachial pulse > femoral)
-Lymphatic defects (results in webbed beck or cystic hygroma, lymphedema in feet and hands)
-Horseshoe kidney
-High-arched palate
-Shortened 4th metacarpals
Image: Horseshoe Kidney --> Turner Syndrome (45XO) Clinical Features: -Short stature -Ovarian dysgenesis (streak ovary) -Shield chest -Bicuspid aortic valve -Coartation of the aorta (brachial pulse > femoral) -Lymphatic defects (results in webbed beck or cystic hygroma, lymphedema in feet and hands) -Horseshoe kidney -High-arched palate -Shortened 4th metacarpals
Rouleaux Formation --> Multiple Myeloma

Plasma cell disorder in which overproduction of IgG > IgA

Clinical Features: Hypercalcemia (Ca2+), Renal involvement, Anemia, and Bone Lytic Lesions --> Back Pain

Urinalysis: Ig light chains (Bence Jones Proteinuria) with negative urine dip stick.

Bone Marrow: >10% monoclonal plasma cells with clock-face chromatin and intracytoplasmic inclusion containing IgG.

Electrophoresis: M-Spike at the gamma region

Complications: Increase infection risk, primary amyloidosis (AL)
Image: Rouleaux Formation --> Multiple Myeloma Plasma cell disorder in which overproduction of IgG > IgA Clinical Features: Hypercalcemia (Ca2+), Renal involvement, Anemia, and Bone Lytic Lesions --> Back Pain Urinalysis: Ig light chains (Bence Jones Proteinuria) with negative urine dip stick. Bone Marrow: >10% monoclonal plasma cells with clock-face chromatin and intracytoplasmic inclusion containing IgG. Electrophoresis: M-Spike at the gamma region Complications: Increase infection risk, primary amyloidosis (AL)
Self Mutilation --> Lesch-Nyhan Syndrome

HGPRT Defective/Deficiency --> defective purine salvage --> excess uric acid production

Signs/Symptoms: Intellectual disability, self-mutilation, aggression, hyperuricemia (red/orange "sand" sodium urate crystals in diaper, gout, dystonia, and macrocytosis.

Treatment: Allopurinol or febuxostat (2nd)
Image: Self Mutilation --> Lesch-Nyhan Syndrome HGPRT Defective/Deficiency --> defective purine salvage --> excess uric acid production Signs/Symptoms: Intellectual disability, self-mutilation, aggression, hyperuricemia (red/orange "sand" sodium urate crystals in diaper, gout, dystonia, and macrocytosis. Treatment: Allopurinol or febuxostat (2nd)
Obstructive renal pelvis calculus (Staghorn Calculi) --> Struvite Nephrolithiasis (Infection with urase + microbes like Proteus mirabilis, Staphylococcus saprophyticus, and Klebsiella) --> Coffin Lid shaped urine crystals
Image: Obstructive renal pelvis calculus (Staghorn Calculi) --> Struvite Nephrolithiasis (Infection with urase + microbes like Proteus mirabilis, Staphylococcus saprophyticus, and Klebsiella) --> Coffin Lid shaped urine crystals
Basophilic Stippling --> Lead Poisioning
Image: Basophilic Stippling --> Lead Poisioning
Heliotropic Rash --> Dermatomyositis
Image: Heliotropic Rash --> Dermatomyositis
Subarachnoid Hemorrhage
Image: Subarachnoid Hemorrhage
Call Exner Bodies --> Granulosa Cell TumorHilar Lymphadenopathy --> SarcoidosisReed Sternberg Cell --> Hodgkin's LymphomaCrusting Vesicle on an Erythematous Base --> Herpes Simplex VirusNutmeg Liver --> Budd-Chiari SyndromePerivascular Pseudorosettes --> MedulloblastomaAuer Rods --> Acute Myeloid Leukemia (AML)Schistocytes --> Microangiopathic HemolysisClue cells --> Gardnerella VaginalisCrypt Abscesses --> Ulcerative ColitisPre-tibial Myxedema --> HypothyroidismEnlarged Heart --> CardiomegalyEosinophilic granules in liver --> Councilman Bodies (Hepatocyte apoptosisSplinter Hemorrhage --> Bacterial EndocarditisPalpable Purpura --> Henoch-Schoenlein PurpuraSlapped Cheek Appearance --> Erythema Infectiosum ("Fifth Disease")Negri Bodies (Eosinophilic inclusions) --> RabiesSupraclavicular Lymphadenopathy --> Virchow NodeSupernumerary Teeth --> Gardner SyndromeWaiters Tip Position --> Erb-Duchenne Palsy --> C5-C6Orphan Annie Nuclei --> Papillary Thyroid CancerPort Wine Stain (Nevus flammeus or non-neoplastic birthmark) --> Sturge-Weber Syndrome (Also known as Encephalotrigeminal Angiomatosis) Genetics: Somatic mosaicism of activating mutation in one copy of the GNAQ gene. Symptoms: -Capillary vascular malformations in CN V1 and V2 distribution. -Ipsilateral leptomeningeal angioma with calcifications --> seizures/epilepsy -Intellectual disability -Episcleral hemangioma --> Increase IOP --> Early onset glaucomaBurton Line (Blue Gingival Lines) --> Lead PoisioningPsammoma Bodies --> -Papillary Thyroid Cancer (PTC) -Meningioma -Papillary Serous Cystadenocarcinoma of the OvaryErythematous, swollen nipple --> Paget Disease of the BreastFlamed Shaped Retinal Hemorrhage --> Hypertensive RetinopathyIron-Laden Prussian Blue Stained Mitochondria --> Sideroblastic Anemia Causes: genetic (eg, X-linked defect in ALA synthase gene), acquired (myelodysplastic syndromes), and reversible (alcohol is most common; also lead poisoning, vitamin B6 deficiency, copper deficiency, drugs [eg, isoniazid, linezolid]).Dome Shaped Umbilicated Papules --> Molluscum ContagiosumDegmacytes ("Bite Cells") --> G6P DeficiencyCerebellar Tumor --> MedulloblastomaKeratin Pearls --> Squamous Cell Carcinomapencil-in-Cup Deformity --> Psoriatic ArthritisCrescent Shaped RBCs --> Sickle Cell AnemiaRachitic Rosary (Bead-Like CC Junctions) --> RicketsCorneus Arcus --> Hyperlipidemia"Starry-Sky" with Tangible Body Macrophages --> Burkitt LymphomaFree Air Under Diaphragm (Pneumoperitoneum) --> Perforated Viscus (Ulcer)Nonkeratinized Stratified Squamous Epithelium replaced by Columnar Cells with Goblets --> Barrett's EsophagusExophthalmos --> HyperthyroidismVentricular Free Wall RuptureInternal Elastic Lamina Calcification --> Medical Calcific SclerosisEcthyma Gangrenosum (rapidly progressive, necrotic cutaneous lesion typically seen in immunocompromised)--> Pseudomonas Aeruginosa Treatments: -Antipseudomal penicillins in combination with beta-lactamase inhibitors (eg. pipercillin-taxobactam) -3rd or 4th generation cephalosporins (eg. ceftazidime, cefepime) -Monobactams -Fluroquinolones -CarbapenemsBroad Based Budding --> Blastomycosis Shape: Broad based budding yeast smaller than RBCs; that is dimorphic mold in the cold and yeast in the heat. Location: Eastern and Central US, Great Lakes Signs/symptoms: Inflammatory lung disease. Disseminates to bone/skin (verrucous lesions, may mimic SCC). Treatment: Fluconazole or itraconazole for local infection; amphotericin B for systemic.Hutchinson Teeth --> Congenital SyphilisMonomorphic Septate Hyphae at 45 Degrees --> Aspergillus Fumigatus Shape: Septate hyphae 35 degrees (A= Acute Angle) Cause: Invasive in immunocompromised, especially with neutrophil dysfunction (i.e. CAD) because catalase +. Can have aflatoxins (leading to hepatocellular carcinoma) Symptoms: Aspergillomas (especially with preexisting lung cavities), may also have Allergic Bronchopulmonary aspergillosis Treatment: Voriconazole or echinocandins (2nd line)Alopecia with Scaling --> Tinea Capitis Shape: Branching septate hyphae visible on KOH with blue fungal stain. Treatment: Along with systemic antifungal conditions, should be treated with terbinafine, itraconazole, fluconazole, or Griseofulvin (Other dermatophytes treated with TOPICAL antifungals like terbinafine and azoles)Tachyzoites --> Toxoplasma GondiiViolin String Adhesions of Liver --> Fitz-Hugh-Curtis SyndromeTrypomastigote --> Trypanosoma CruziSteeple Sign (Subglottic Narrowing) --> CroupOwl Eye Intranuclear Inclusions --> Cytomegalovirus (HHV-5)Onycholysis --> HyperthyroidismCystic Bone Spaces --> Osteitis Fibrosa CysticaOral Mucosa Neuromas --> MEN 2BPAS + "Foamy" Macrophages --> Whipple DiseaseGlomerular Basement Membrane Thickening --> Membranous NephropathyPleural Fluid Accumulation --> Left Pleural EffusionUnilateral calf edema + erythema + Rubor + pain --> Deep vein thrombosis"Cannonball" Metastasis --> ChoriocarcinomaGranular "Muddy Brown" Casts --> Acute Tubular NecrosisImplantation of Ovum Outside of Uterus --> Ruptured Ectopic PregnancySoot deposition in airways with edema, congestion, and mucosal thickening --> Inhalation InjuryKoilocytes --> HPVShorted 4th/5th digit --> Albreit Hereditary OsteodystrophyConnective Tissue with Leaf-Like Lobulations --> Phyllodes TumorBlanching of upper torso with finger pressure --> Superior Vena Cava SyndromeCuboidal, clustered alveolar cells --> Type II PneumocytesApple green birefringence (polarized light) --> AmyloidosisThick, pink, vessel walls with immune complex and fibrin interaction --> Fibrinoid Necrosisulcerative, bleeding mucosa lesions --> Stevens-Johnson SyndromePleiomorphic Giant Cells --> Large Cell Carcinoma (of the Lung)Lisch Nodule (Iris Hamartomas) --> Neurofibromatosis Type IBilateral Renal Cell Carcinomas --> Von Hippel Lindau DiseaseTaenia Solium --> NeurocysticercosisReactive/Atypical Lymphocytes --> "Downy Cells" --> Mononucleosis (Cause: Epstein-Barr virus)Electrical Alternans --> Pericardial TamponadeMucin-Filled cells with peripheral nuclei = Signet Ring Cells --> Gastric CarcinomaBamboo Spine --> Ankylosing Spondylitis (HLA-B27+)Basophilic Nuclear Remnants in RBCs = Howell-Jolly Bodies --> Functional Hyposplenia (eg, sickle cell disease), asplenia (Usually removed by splenic macrophages)Xanthochromia (yellow CSF) --> Subarachnoid hemorrhage Other Symptoms: "Thunderclap" HeadacheCSF FluidThyroidization of the Kidney --> Chronic PyelonephritisFrom the KidneyChocolate Cyst of Ovary --> Endometriosis of OvaryReinke Crystals --> Leydig Cell TumorIron-Containing nodules in Alveolar Septum --> Ferruginous Bodies (Asbestosis)Sinus BradycardiaTrophozoites with engulfed RBCs --> Entamoeba HistolyticaIntracytoplasmic eosinophilic inclusions of damaged keratin = Mallory Bodies Associations: Alcoholic hepatitis (Sustained, long-term consumption)Angular Fissures at the corner of mouth --> Rhagades (Congenital Syphilis)Hepatic macrophages in sinusoids of hepatic venule = Kupffer CellsPorcelain Gallbladder Calcified gallbladder due to chronic cholecystitis; usually found incidentally on imaging.Trypanosoma BruceiKwashiorkor Swollen abdomen secondary to protein malnutrition.Neuroendocrine with prominent ROSETTES --> Carcinoid TumorOral vesicular to crusting lesion with an erythematous base --> Herpes Labialis secondary to Herpes Simplex Virus (HSV) 1Macrophages with amastigotes --> Leishmania DonovaniTelangiectasiaGiant granules in granulocytes and platelets --> Chediak-Higashi SyndromeOral Thrush --> Candida AlbicansNegative Birefringent needle-shaped crystals (parallel and yellow) --> GoutKayser-Fleischer Rings --> Wilson DiseaseAschoff Bodies --> Rheumatic FeverCurschmann Spirals --> AsthmaErythema Multiforme --> Herpes Simplex Virus (HSV) 1Subdural HematomaMelanomaCall Exner Bodies --> Granulosa Cell TumorPhyllodes Tumor (Breast Cancer)Butterfly Rash --> Systemic Lupus Erythematous (SLE)Ulnar Deviation + MCP Involvement = Rheumatoid Arthritis (RA)Polycystic Kidney DiseaseNeurofibrillary Tangles --> Alzheimer'sSchiller-Duval Bodies --> Yolk Sac TumorHilar Adenopathy --> SarcoidosisHorseshoe Kidney Assocaited: Turner's SyndromeHairy Cell Leukemia (HCL)Heliotrope Rash --> DermatomyositisSchistocytes Assocaited with: TTP, HUS, DIC, Aortic StenosisMultisegmented Neutrophils (B12 or Folate Deficiency)Pulmonary EmbolismReed Sternberg Cell --> Hodgkin's LymphomaLead Pipe Sign --> Ulcerative ColitisLewy Body --> Parkinson's or Lewy Body DementiaThumb Sign --> Epiglottitis --> Haemophilus Influenzae Treatment: amoxicillin +/− clavulanate for mucosal infections; ceftriaxone for meningitis; rifampin for prophylaxis Vaccine: Type B capsular polysaccharide (polyribosylribtol phosphate)Kimmelstiel-Wilson Nodules --> Diabetic Mellitus NephropathyTeratomaSeborrheic KeratosisSteeple Sign --> Croup Parainfluenza (Paramyxovirus -ssRNA) virus membrane contains hemagglutinin and neuraminidaseApical Lung Cavitation --> TuberculosisStarburst Appearance --> OsteosarcomaVirchow Node --> MalignancyApple Core Sign --> Colon CancerMeningioma