20 Flashcards
Patients with endometriosis are at increased risk of ___.
Infertility
What are neurofibromas?
Nerve sheath tumors
Retinal hemangioblastomas are associated with what syndrome?
Von Hippel-Lindau -> benign and malignant tumors
Manometry - periodic, high-amplitude, non-peristaltic contractions?
Dysfunction of inhibitory neurons -> diffuse esophageal spasm
Manometry - esophageal hypercontractility
Eosinophilic esophagitis
Young children with an erythematous, sharply demarcated perianal rash associated with pruritus and pain
Streptococcal perianal dermatitis
Compare populations affected by contact vs. Candida vs. perianal Streptococcus dermatitis
Contact: most common cause in infants
Candida: second most common cause in infants
Perianal Strep: school-aged children
Compare the exam findings of contact vs. Candida vs. perianal Streptococcus dermatitis
Contact: spares creases/skinfolds
Candida: beefy-red rash involving skinfolds with satellite lesions
Perianal: bright, sharply demarcated erythema over perianal/perineal area
Rx contact vs. Candida vs. perianal Streptococcus dermatitis
Contact: topical barrier ointment or paste
Candida: topical antifungal
Perianal Strep: oral ABX
Ovarian mass on U/S - homogenous cyst with internal echoes (eg, “ground glass”)
Endometrioma
Presentation - frequent fractures, joint hypermobility, see-through teeth, blue sclera, conductive hearing loss, short stature
Osteogenesis imperfecta
Inheritance pattern of osteogeneis imperfecta?
AD
___ can occur after accidental ingestion of prenatal vitamins and presents with abdominal pain, hematemesis, shock, and AG metabolic acidosis. ___ is the primary therapy.
Acute iron poisoning; deferoxamine
List the 5 major primary humoral deficiencies - what is their shared clinical feature?
- X-linked agammaglobulinemia
- CVID
- IgA deficiency
- Hyper-IgM syndrome
- IgG subclass deficiency
Recurrent and or severe sinopulmonary infections with viruses and encapsulated bacteria
Distinguish the 5 major primary humoral deficiencies based on lab findings.
- Bruton - decreased or absent B cells, decreased Igs
- CVID - normal B cells, decreased Igs
- IgA deficiency - normal B cells, decreased IgA
- Hyper-IgM - normal B cells, decreased IgG and IgA, increased IgM
- IgG subclass deficiency - normal B cells, decreased IgG
Cause of hyper-IgM syndrome?
X-linked defect in the CD40 ligand (prevents class switching)