Other? Flashcards
define ROBINOW SYNDROME
condition w/several notable characterisitcs
s/s: robinow syndrome
dwarfism, short lower arms, small hands w/clinodactyly, small feet, vertebral segmentation defects, single butterfly vertebra/multiple vertebral segmentation defects, hemivertebrae/vertebral fusions/narrow interpediculate distance, flat face & larger head, bulging forehead w/widely spaced eyes, wide triangular mouth, crowded/misaligned teeth, underdeveloped penis, undescended testicles, clitoris & labia minora underdeveloped
how to diagnosis robinow syndrome
characterisitc symptoms & genetic study
tx: robhinow syndrome
none
prognosis of robinow syndrome
normal life span
define CRI-DU-CHAT SYNDROME
hereditary condition with deletion of genetic material from chromosome 5
aka: cri-du-chat syndrome
cat’s cry syndrome
s/s: cri-du-chat syndrome
microcephaly, deficient cerebral brain tissue, intellectual development disorder, weak/mewing/cat like cry, orbits spaced far apart, slow growth, poor muscle tone, slow development
prognosis of cri-du-chat syndrome
fatal w/no cure. results in stillborn/death shortly after birth
define DOWN SYNDROME
condition where people have extra 21st chromosome causing them to have 47 chromosomes
s/s: down syndrome
small head w/flat back skull, slant to eyes, flat nasal bridge, small low-set ears, small mouth w/protruding tongue, small weak muscles, short hands w/stubby fingers, deep horizontal crease across palm, intellectual development disorder, wide gap between big and little toes
aka: down syndrome
trisomy 21
what is the former name of down syndrome
mongolism
how to diagnose down syndrome
ultrasonography, blood test, amniocentesis, eye exam, karyotype
how often does down syndrome occur
1 in 700 live births
tx: down syndrome
- multidimensional approach to maximize development of motor & mental skills
- surgical correction & antibiotic therapy
- home/facility care
define PHENYLKETONURIA
lack enzyme to metabolize amino acid (phenylalanine) causing build up
sx: phenylketonuria
- musty odor to sweat and urine
- rashes
- irritability
- hyperactivity
- personality disorders
- arrested brain development
how is phenylketonuria diagnosed
mandatory newborn screening
tx: phenylketonuria
phenylalanine free diet
aka: chicken pox
varicella zoster
sx: chicken pox
- red macules that turn into papules
- papules become vesicles w/crusts
- lesions all over body
- rash
- fever
- malaise
- anorexia
- intense itching
list complications of chicken pox
- secondary bacterial infection
- viral pneumonia
- conjunctival ulcers
- Reye syndrome
cause: chicken pox
direct/indirect contact w/respiratory droplets or fluid from cutaneous lesions hosting varicella-zoster virus
aka: varicella zoster virus
human herpes virus 3
tx: chicken pox
- cool bicarbonate of soda baths
- cornstarch dusting/calamine lotion
- acetaminophen
- antiviral durgs
t/f: aspirin can be given to kids w/chicken pox
false bc risk of reye syndrome
when is the chicken pox vaccine commonly administered
- 1st dose @ 12-18 months
- 2nd dose @ after 24 months
cause of tetanus
bacteria Clostridium tetani enter skin
aka: tetanus
lockjaw
incubation period for tetanus?
3-21 days
tx: tetanus
sedatives, muscle relaxants, quiet and dark environment, maintain respiratory integrity, human tetanus immune globulin
what is the mortality rate of tetanus
35%
how can tetanus be prevented
clean wounds w/hydrogen peroxide
cause: lead poisoning
eat lead paint, drink water from lead pipes, ingest lead salts
how is lead poisoning diagnosed
blood test, lead excretion through urine, changes on ends of bone in xrays
tx: lead poisoning
chelating agents, antiemetics, penicillamine
define HYPERACUTE REACTIONS
transplant rejection during operation
define ACUTE REJECTION
transplant rejection occurring weeks after surgery or when antirejection meds become ineffective
define CHRONIC REJECTION
transplant rejection over months/years bc of vascular injury and inflammation
define ACQUIRED IMMUNODEFICIENCY SYNDROME
progressive impairement of immune system from HIV
cause: AIDS
HIV
list common malignancies and opportunistic infections/conditions in AIDS pts
kaposi sarcoma, lymphomas, pneumocystis carinii pneumonia, TB, herpes simplex, herpes zoster, candida albicans, toxoplasmosis, neurologic complications, diarrhea, hairy leukoplakia
where is HIV2 mainly found
west africa
what is the top killer of men and worldwide threat to human kind
AIDS (and subsequently HIV)
about how many people are affected with AIDS
35 million
what causes AIDS
HIV type 1 or 2
how is HIV transmitted
direct contact with infected blood, semen, breast milk or in utero
how is AIDS diagnosed
ELISA test, Western blot test, positive p24 antigen test, positive PCR assay
there is no cure for AIDS, but this treatment prolongs life and maintains quality of life
HAART
describe HAART
three drug combo treatment for AIDS (nucleoside reverse transcriptase inhibitors, protease inhibitior, non-nucleoside reverse transcriptase inhibitor)
define COMMON VARIABLE IMMUNODEFICIENCY
acquired B cell deficiency causing decreased antibody production/function
aka: common variable immunodeficiency
acquired hypogammaglobulinemia
cause of common variable immunodeficiency
unknown, suspected to be genetics
how is common variable immunodeficiency diagnosed
history of repeated and chronic infections, antibody response to vaccines poor, hypogammaglobulinemia and IgA/IgM deficiency
tx: common variable immunodeficiency
regular immunoglobulin replacement and vaccination
cause of selective immunoglobulin A deficiency
B cells fail to produce enough IgA
how is selective immunoglobulin A deficiency diagnosed
CBC, complement assay, vaccine response testing, monitor for 4 years
tx: selective immunoglobulin A deficiency
none; prophylactic antibiotics, IV immunoglobulin with low concentration of IgA
aka: x-linked agammaglobulinemia
bruton agammaglobulinema
what is the cause of x-linked agammaglobulinemia
congenital defect in Burton tyrosine kinase gene
how is x-linked agammaglobulinemia diagnosed
clinical findings, pt history, decreased serum levels of IgM/IgA/IgG, BTK gene mutation
tx: x-linked agammaglobulinemia
IV/subQ infusion of immune globulin, antibiotics, killed vaccines
describe SEVERE COMBINED IMMUNODEFICIENCY
group of disorders with absence of T cell immunity and B cell immunity
aka: severe combined immunodeficiency
bubble boy disease
cause of severe combined immunodeficiency
genetic (x-linked and autosomal)
how is severe combined immunodeficiency diagnosed
routine newborn screen, measure immunoglobulin levels, antibody titers, number of T and B cells, lymphopenia, absence of thymic shadow on chest xray
tx: severe combined immunodeficiency
bone marrow transplant, gene therapy, supportive therapy, sterile environments
children with SCID generally live until
1 year old
aka: DiGeorge Anomaly
Thymic Hypoplasia; aplasia; DiGeorge Syndrome
define DIGEORGE ANOMALY
congenital condition from defective development of pharyngeal pouch system
cause of DiGeorge Anomaly
abnormal development of third and fourth pharyngeal pouches
how is DiGeorge anomaly diagnosed
reduced number of T cells and 2 of three conditions (cardiovascular defects, hypocalcemia greater than 3 weeks, microdeletion involving chromosome 22); absence/hypoplasia/abnormal placement of thymus
tx: DiGeorge Anomaly
Vitamin D and parathyroid hormone replacement therapy, thymic transplantation, Bone marrow transplant
define CHRONIC MUCOCUTANEOUS CANDIDIASIS
group of disorders with persistent and recurrent candidal infections of skin, nails, and mucous membranes
how is chronic mucocutaneous candidiasis diagnosed
history of recurrent fungal infections, scrapings from lesions show yeast pseudohyphae (string of atypical fungal cells), normal T cell circulation and antibody response to all organisms except Candida
tx: chronic mucocutaneous candidiasis
systemic therapy with antifungal agents, transfer factor, topical treatment
define WISKOTT-ALDIRCH SYNDROME
congenital disorder with inadequate B and T cell function, thrombocytopenia, and eczema
cause of Wiskott-Aldrich Syndrome
x-linked trait, mutation of Wiskott-Aldrich protein
how is Wiskott-Aldrich Syndrome diagnosed
boy, thrombocytopenia, small platelet size, frequent infections, eczema, low number of T and B cells
tx: Wiskott-Aldrich Syndrome
bone marrow therapy
define AUTOIMMUNE HEMOLYTIC ANEMIA
autoimmune condition where RBCs are destroyed by antibodies
cause of autoimmune hemolytic anemia
B cell antibodies don’t recognize RBCs causing agglutination, drugs, autoimmune diseases, malignancies, fixation of complement proteins on IgM
how is autioimmune hemolytic anemia diagnosed
direct Coombs test showing antibody coated RBCs, spherical RBCs, elevated serum bilirubin, RBC count/platelet count/Hgb concentration/hematocrit decreased
tx: autoimmune hemolytic anemia
corticosteroids, cytotoxic drugs, splenectomy, IVIG administration, RBC transfusions, dress warmly (cold)
describe PERNICIOUS ANEMIA
anemia from chronic atrophic gastritis causing shortage of intrinsic factor and decreased HCI production
how is PERNICIOUS ANEMIA diagnosed
schilling test, blood tests (decreased Hgb and RBC and increased increased MCV), bone marrow studies, reduced/absent gastric acid, hypersegmented neuropathy
tx: pernicious anemia
IM injections of vitamin B12, blood replacement, rest, gentle nonirritating mouth care, well-balanced diet high in vitamin B12, tranquilizers
tx: pernicious anemia
none
describe IDIOPATHIC THROMBOCYTOPENIC PURPURA
autoantibodies against platelets from isolated deficiency of platelets
cause of idiopathic thrombocytopenic purpura
idiopathic
how is idiopathic thrombocytopenic purpura diagnosed
CBC, peripheral blood smear, clinical symptoms, prolonged bleeding time, reduced platelets, reduced circulating platelet time
tx: idiopathic thrombocytopenic purpura
corticosteroid administration, IVIG, blood transfusion, vitamin K, therapeutic plasma exchange, splenectomy
kids with idiopathic thrombocytopenic purpura may experience
spontaneous remission
define IMMUNE NEUTROPENIA
decrease in number of circulating neutrophils from production of antineutrophil antibodies
cause of immune neutropenia
infection, drug exposure, ITP, autoimmune hemolytic anemia, connective tissue disease
how is immune neutropenia diagnosed
significantly reduced number of neutrophils in WBC count, immunofluorescence, agglutination test, antiglobulin analysis
tx: immune neutropenia
corticosteroids, immune globulin, granulocyte-colony-stimulating factor, transfusions of WBC concentrates
aka: goodpasture syndrome
anti-glomerular basement membrane antibody disease
define GOODPASTURE SYNDROME
autoimmune kidney disease from antibodies directed against antigen in GBM
cause of goodpasture syndrome
antibodies cause damage in glomerular and alveolar basement membranes causing glomerulonephritis and pulmonary hemorrhage
how is goodpasture syndrome diagnosed
detection of anti-GBM antibodies in serum or kidney: ELISA, immunofluorescence, renal biopsy, protein and blood in urine
tx: goodpasture syndrome
plasmapheresis, immunosuppressive agents, hemodialysis, kidney transplant
connective tissue diseases destroy what
collagen
aka: systemic lupus erythematosus
lupus
cause of lupus is unknown, but what are some precipitate factors
stress, immunization reactions, pregnancy, overexposure to UV light
how is lupus diagnosed
at least 4 sx or positive lab tests (butterfly rash on face, discoid skin lesion, photosensitivity, nasopharyngeal ulceration, polyarthritis w/o deformity seizures/psychosis, chronic pleuritis or pericarditis, false positive serologic test for syphilis/DNA/SM antibodies, cellular casts in urine, thrombocytopenia, and more)
tx: lupus
antiinflammatory drugs (aspirin/NSAIDS/prednisone), antimalarial agents, corticosteroids, immunosuppressive meds
aka: scleroderma
systemic sclerosis
define SCLERODERMA
chronic progressive disease of sclerosis of skin and scarring of internal organs
demographic of scleroderma
- four times more often in women
- gen 30-50 yrs
how is scleroderma diagnosed
complete pt history, physical exam, lab testing (Scl-70 and centromere antibodies), skin biopsy, blood tests, urinalysis
tx: scleroderma
palliative care and physical therapy
cause of scleroderm
unknown
define SJOGREN SYNDROME
inflammation of moisture secreting glands
cause of sjogren syndrome
genetics
most people with sjogren syndrome are
female
how is sjogren syndrome diagnosed
dry eyes during schirmer test, anemia, decreased WBC count, elevated ESR, autoantibodies, high rheumatoid factor titers
tx: sjorgen syndrome
increase fluids, chew sugarless gum, oral sprays, artificial tears, sunglasses, blockage of tear ducts, prednisone, antimalarial meds
demographics of rheumatoid arthritis
- affects women three times more than men
- gen ppl in 30-40 yrs
how many americans does rheumatoid arthritis affect
1.5 million
cause of rheumatoid arthritis is unknown, but what are some potential causes
hereditary and viral infection
how is rheumatoid arthritis diagnosed
sx, physical exam, pt and family history, xrays, elevated rheumatoid factor
tx: rheumatoid arthritis
antiinflammatory meds, corticosteroids, DMARDS, immunosuppressive agents, special splints, surgery, artificial joints
aka: juvenile idiopathic arthritis
juvenile rheumatoid arthritis
what is the age for juvenile idiopathic arthritis, and what age range is most common
< 16 yrs; 2-5 yrs
how is juvenile rheumatoid arthritis diagnosed
elevated rheumatoid factor
tx: juvenile rheumatoid arthritis
diet, physical therapy, exercise antiinflammatory meds, splints, DMARDS, immunosupressive agents
ankylosing spondylitis occurs more commonly in _____ and ____ generally have a milder form
young men; women
cause of ankylosing spondylitis
unknown; genetics
how is ankylosing spondylitis diagnosed
xray of symptom areas, bilateral sacroiliitis, squaring of vertebrae, fusion of joints, generalized osteoporosis, bamboo spine
tx: ankylosing spondylitis
none; antiinflammatory meds, physical therapy, analgesics, moderate exercise
define POLYMYOSITIS
inflammation of muscle fibers
how is polymyositis diagnosed
pt history, physical exam, electromyography, muscle biopsy, elevated creatinine phosphokinase/aldolase/serum glutamate oxaloacetate transaminase/serum glutamate pyruvate transaminase/lactate dehydrogenase
tx: polymyositis
steroids, immunosuppressive agents, exercise
define MULTIPLE SCLEROSIS
inflammation and demyelination of CNS causing scarring
cause of MS is unknown, but what is thought to be a trigger
unknown virus
list the types of MS
- relapsing-remitting
- primary-progressive
- secondary-progressive
- progressive-relapsin
list risk factors fo rMS
being white and living in north
MS more commonly affects
- women
- people 20-40 yrs
how is MS diagnosed
at least 2 episodes of CNS dysfunction, cerebral/spinal plaque, elevated immunoglobulin levels, oligoclonal bands on MS panel
tx: MS
corticosteroids, biologic medications, immunosuppressive agents, improved meds (interferon beta-1a, interferon-beta-1b, glatiramer, mitoxantrone, siponimod, cladribine), muscle relaxants, vitamin supplements, physical therapy, diet, rest, mobility devices
what group of MS pts have best prognosis
- young females
- relapsing
- impairment of sensory pathways as initial symptoms
how is myasthenia gravis diagnosed
tensilon test and EMG
myasthenia gravis demographics
- women 20-40 yrs
- men >60 yrs
cause of myasthenia gravis
antibodies against acetylcholine receptors preventing nerve impulses and/or thymus hyperplasia or thymoma
tx: myasthenia gravis
restricted activity, bed rest, soft/liquid diet, anticholinesterase drugs (pyridostigmine bromide), thymectomy, corticosteroids, immunosuppression
describe VASCULITIS
inflammation of walls of blood vessels causing it to be necrotic and infarct adjascent tissue
what are the two types of vasculitis
small vessel vasculitis and systemic necrotizing vasculitis
how is small vessel vasculitis diagnosed
histology, immunofluorescence studies, immunoglobulins and complement in blood vessel, pattern of vascular involvement, present cell types
tx: small vessel vasculitis
treat underlying cause
cause of small vessel vasculitis
unknown; immune disorders, chemicals, foreign proteins, medications, foods, infections
cause of systemic necrotizing vasculitis
autoimmune response, illicit drug use, HBV and HCV
how is systemic necrotizing vasculitis diagnosed
elevated WBC and platelet count, pulmonary infiltrates on chest xray, angiography, biopsy
tx: small necrotizing vasculitis
corticosteroids, analgesics, immunosuppressive agents
