Publications by authors named "Omri David Soffer"

Non-catheter related arterial thromboembolism in the neonatal population is rare and carries a significant risk of organ damage or limb loss. Thrombolysis, whether systemic or catheter- directed, is reserved either for limb or life-threatening thrombosis due to risk of bleeding especially in premature neonates. In this case, an infant male born at 34 weeks and 4 days gestational age presented with limb-threatening clot in the distal right subclavian artery and proximal right axillary artery with no known cause.

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To evaluate recovery from neuromuscular blockade in infants using Train-of-Four nerve stimulation. Ulnar nerve stimulation was used to evoke thumb twitch and reported as Train-of-Four ratio. Thumb twitch was also recorded visually in real-time.

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Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked intellectual disability (with and without spasticity) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260). Males can also manifest an entity known as MECP2-related severe neonatal encephalopathy whose mutations are identical to those in females with RTT. We describe here the first case of MECP2-related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT.

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