Cell Mol Gastroenterol Hepatol
December 2021
Heřmanský-Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6) is an uncommon subtype generally associated with mild disease. A Caucasian adult female presented with a history of severe bleeding; ophthalmologic examination indicated occult oculocutaneous albinism.
View Article and Find Full Text PDFLimited information is available regarding interstitial lung disease (ILD) in Erdheim⁻Chester disease (ECD), a rare multisystemic non-Langerhans cell histiocytosis. Sixty-two biopsy-confirmed ECD patients were divided into those with no ILD (19.5%), minimal ILD (32%), mild ILD (29%), and moderate/severe ILD (19.
View Article and Find Full Text PDFFifty-two neonates delivered by elective cesarean section were evaluated using the Neonatal Neurologic and Adaptive Capacity Scores. Twenty of the mothers received general anesthesia, 14 received epidural, and 18 received spinal anesthesia. All mothers receiving regional anesthesia were prehydrated with 1000 ml of lactated Ringer's solution and were given oxygen via a transparent face mask.
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