Gene therapy updates — Flashcards

Flashcard 1: β-thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth

Answer: Major (β0/β0)

Flashcard 2: SCID is characterized by an absent _____ on CXR

Answer: thymic shadow

Flashcard 3: α-thalassemia due to a four gene deletion causes _____ (lethal in utero)

Answer: hydrops fetalis

Flashcard 4: Spinal muscular atrophy presents with _____-lateral symmetric weakness

Answer: bi

Flashcard 5: What lysosomal storage disease presents with optic atrophy? _____

Answer: Krabbe disease

Flashcard 6: Rett syndrome presents with _____, including loss of development and verbal abilities

Answer: regression

Flashcard 7: HIV is considered a ToRCHeS infection and can be transmitted through the _____

Answer: placenta

Flashcard 8: The infantile type (Werdnig-Hoffman) of Spinal Muscular Atrophy has a median age of death of _____

Answer: 7 months

Flashcard 9: Enzyme deficiency and inheritance of Hunter syndrome?

Answer: Enzyme deficiency: Iduronate sulfatase Inheritance: X-linked recessive (XR)

Extra: - Accumulation of heparan sulfate and dermatan sulfate. - Clinical features: Developmental delay, gargoylism, airway obstruction, hepatosplenomegaly. - Distinctive features: Aggressive behavior, NO corneal clouding (unlike Hurler syndrome).

Flashcard 10: What is the enzyme deficiency in Hurler's syndrome?

Answer: Deficiency of α-L-iduronidase

Extra: • Inheritance: Autosomal Recessive (AR) • Accumulation of: Heparan sulfate and Dermatan sulfate • Clinical Features: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.