Background: the underlying cause of the deficiency of ornithine carbamoyltransferase (OTCD) is a gene mutation on the X chromosome. In females, the phenotype is highly variable, ranging from asymptomatic to neurologic compromise secondary to hyperammonemia and it can be prompted by numerous triggers, including pregnancy. Objective: the objective of this article is to report a case of two pregnancies of an OTCD-carrier, and to review the literature describing OTCD and pregnancy, parturition and postpartum.
View Article and Find Full Text PDFAim: the objective of this study was to describe the results of the implementation of a home parenteral nutrition (HPN) care programme (Nutrihome©) in a cohort of patients treated at a tertiary hospital. Methods: retrospective study of the patients included in Nutrihome© at Hospital General Universitario Gregorio Marañón, Madrid, Spain. Nutrihome consists of different modules including pre-discharge nursing hospital visits and nursing home visits, deliveries of the infusion pump, consumables and parenteral nutrition bags, patient training, weekly scheduled nursing home visits, scheduled nursing phone calls, stock control phone calls and 24-hour on-call line manned by the nurses.
View Article and Find Full Text PDFIntroducción: la esofagitis eosinofílica (EEo) es una enfermedad inmunoalérgica crónica emergente en adultos. Surge como respuesta disfuncional frente a los antígenos de los alimentos y se caracteriza por síntomas recurrentes de disfunción esofágica e inflamación. El tratamiento farmacológico y dietético se basa en su patogénesis y debe ser individualizado.
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