22 Flashcards
Holosystolic murmur heard best at left lower sternal border could be what two things?
- VSD
- tricuspid regurgitation
*choose VSD in baby; TR in IV drug user
High pitched diastolic murmur causing a widened pulse pressure?
Aortic regurgitation; remember. Widened pulse pressure = head bobbing
Two murmurs that are described as “crescendo–decrescendo”
Aortic stenosis & pulm stenosis
Continuous machine like murmur
PDA
Cinchonism.
What is it?
What drug causes it?
Deafness, tinnitus
Caused by quinidine; binds Na receptors in the hair cells of the ear.
What stain would you use to diagnose each of the following?
- Cryptococcus
- PCP
- Chlamydia
- Cryptococcus- India ink
- PCP- silver stain
- Chlamydia- Giemsa stain
DiGeorge:
What two things are missing in the fetus?
What three things are missing in the adult?
What other malformation may be Assc with digeorge?
- No branchial Pouches 3,4 –> -No thymus, T cells, or PT gland
- may be Assc with truncus arteriosus/ tet due to possible 22q11 deletion
Chovstek and Trousseau signs
Chovstek- “C for Cheek” tap on cheek, watch face contract
Trousseau-tighten BP cup –> carpofetal spasm
** both due to hypocalcemia/ tetany if ++
Sense in the case of digeorge due to absent PT gland
Chronic mucocandidiasis:
Lack of what cells?
Typical infection seen?
Treatment?
T cell dysfunction, c albicans infection, give ketoconazole
Bruton Agammaglobulinemia
Inheritance pattern/ Assc gene
Sign?
X linked –> only boys. Brutton is a little Boy
Get loss of all Ig’s –> bacterial infections at 6 months when moms Ig’s are all gone.
IL-12R deficiency result?
T cells cannot be activated! –> mycobacterial/fungal infxn
Sign of selective IgA deficiency
Recurrent sinus infections and lung infections
^^chance of allergies and asthma
SCID:
Most common defect? What is the function of this gene?
Signs? CXR finding?
Adenosine deaminase deficiency– part of PURINE SALVAGE = a deficiency in both B + T cells
Early infections of all types, diarrhea and LOSS OF THYMIC SHADDOW!
(Don’t confuse this with digeorge. Digeorge is only T cell.)
Ataxia telangiectasia
What is the deficiency?
What are the signs?
When do these kids die?
The deficiencies are IN THE NAME!!! A-T= missing IgA/T cells.
So are the signs….
ATAXIA= signs
ataxia, telangiectasia, acute leukemias, Xray sensitive, IgA related infections, AFP increased by 8 months
Kids die by 25.
Wiskott Aldridge
- gene defect
- deficiency
- signs
X linked = boys. Little wiskott has a Weiner. Cause he’s a boy.
No IgM/IgA ^^^
Signs = WAITER, little wiskott wants to be a waiter when he grows up.
WA-wiskott Aldridge I- immunodeficiency T-thrombocytopenia
E-eczema R- recurrent pyogenic infections
Two possible causes for hyperIgM syndrome
Lack of CD40 on B cells (AR)
Lack of CD40L on T cells (X)
Both result in the inability to CLASS SWTICH! (CD40-CD40L doesn’t happen)= only IgM present
Chronic granulomatous disease
Inheritance pattern/ defect
Test used to Dx
Typical infections
X linked lack of NADPH oXidase
Cannot kill catalase + organisms =staph/aspergillosis infxn
Test = nitrotetrazoluem blue (no yellow –> blue when staining)
Chediak Higashi
- defect
- histo findings
- signs
Lysosomal transport defect
See cytoplasmic granules in PMB
Signs: albinos, neuro deficits, infections
Hyper IgE syndrome
- Defect
- signs
- Th17 cells lost; neutrophil recruitment lost
- ^ IgE and eosinophils for no known reason
- IgE for Eczema
- no neutros = COLD abscesses/boils like Job in bible
- course facial features and TWO ROWS OF TEETH.
Job has all kinds of boils and two rows of teeth like a shark. Job is awesome. Be like Job.
Leukocyte Adhesion deficiency
- Defect
- Biggest sign/earliest sign
Abnormal integrins = phagocytes cannot leave circulation
Delayed umbilical circulation
Four IDs that can be X linked?
“watch” (= WACH)
- Little WISKOTT has a WEINER
- BRUTON is a little BOY
- CGD: NAPH oXidase deficiency
- IgM can be for MEN. (In CD40L type)
Late diastolic murmur with opening snap
Mitral stenosis
*remember: MVP is opening click during SYSTOLE.
