Caso clínico: cuidados de enfermería a una paciente con enfermedad de Wilson / Clinical case: nursing care to a patient with Wilson's disease

La enfermedad de Wilson o degeneración hepatolenticular es un trastorno congénito de herencia autosómica recesiva del metabolismo del cobre (gen ATP7B) que produce una disminución de su excreción por vía biliar y, como consecuencia, un aumento de la concentración de cobre hepático y en tejidos extrahepáticos como cerebro, riñón y córnea, siendo este acúmulo el responsable de las manifestaciones clínicas. Al ser esta una enfermedad poco común y difícil de diagnosticar, dado su amplio espectro clínico, los facultativos han de sospechar su diagnóstico ante un paciente con hepatopatía de causa no clara. Cuando la detección de la enfermedad es precoz, el tratamiento es farmacológico, pero cuando la detección ocurre en fases avanzadas, o en individuos que no han respondido al tratamiento, la enfermedad puede evolucionar hacia un fallo hepático agudo grave, cuyo tratamiento definitivo es el trasplante hepático. En este artículo se presenta el caso clínico y el seguimiento de una paciente joven con hepatopatía no filiada y en la que se sospecha enfermedad de Wilson. Siguiendo el modelo conceptual de Virginia Henderson, se describen los problemas de colaboración y los diagnósticos de enfermería, presentando un plan de cuidados según la taxonomía NANDA (North American Nursing Asociación), NIC (Nursing Intervention Classification) y NOC (Nursing Outcomes Classification). En este caso, a la vez que se amplían conocimientos sobre la enfermedad, se establece un plan de cuidados que ayuda a la atención individualizada por parte de los profesionales a los pacientes afectos de dicha enfermedad (AU)

Wilson's disease or hepatolenticular degeneration is a congenital autosomal recessive disorder of cooper metabolism (ATP7B gene) which causes a decrease in biliary excretion and consequently, an increase in cooper concentration in hepatic and extrahepatic tissues such as brain, kidney and cornea. This accumulation is responsible for the clinical manifestations. Since this is a rare and difficult disease to diagnose given its wide clinical spectrum, doctors suspect this diagnosis on patients with liver disease of unclear cause. When detection of disease is early, treatment is pharmacological, but when detection occurs in advanced stages, or in individuals who have not responded to treatment, the disease can develop into an acute liver failure, whose definitive treatment is liver transplantation. In this article we present the clinical case and tracking of a young patient with liver disease of unknown origin, which is suspected of having Wilson's disease. Following the conceptual model of Virginia Henderson, collaboration problems and nursing diagnoses are described, presenting a care plan according to the NANDA taxonomy (North American Nursing Association), NIC (Nursing Intervention Classification), and NOC (Nursing Outcomes Classification). In this case, while disease knowledge expands, a care plan that helps individualized attention from professionals to patients affected by the disease is established (AU)

[Usefulness of a rapid intrapartum real-time PCR assay in comparison with the group B Streptococcus culture screening at the end of pregnancy in pregnant women]. / Intérêt d'un test de PCR en temps réel en intrapartum en comparaison à la culture de fin de grossesse pour le dépistage du streptocoque du groupe B chez la femme enceinte.

OBJECTIVES: The objectives were to evaluate and compare the diagnostic accuracy of a rapid real-time PCR assay at the onset of labor with those of the current antenatal culture-based test at 34-38 weeks gestation for group B Streptococcus (GBS) screening. MATERIALS AND METHODS: A prospective study including all pregnant women admitted for delivery after a 34-week gestation period was conducted in October 2012 at the Grenoble University Hospital Centre. A first culture-based GBS screening test was performed between 34 and 38 weeks of gestation followed by a second screening test at the onset of labor, using a real-time PCR Assay and a culture-based method (gold standard) in order to calculate the diagnostic accuracy. RESULTS: One hundred an fifty-seven patients were enrolled. The sensitivity was 94.4% (95% CI, 72.7-99.9%) with intrapartum PCR assay and 50% (95% CI, 26-74%) with antepartum culture. Prevalence of GBS colonization was 7.6% with the antepartum culture method, 11.5% with intrapartum culture and 16.6% by using PCR-test. CONCLUSION: Intrapartum PCR shows a much higher sensitivity compared to the antepartum culture-based screening mainly due to variations in GBS colonization and could allow us to target patients requiring intrapartum antibiotic prophylaxis more effectively.

The marginal donor: a single-center experience in orthotopic liver transplantation.

The use of marginal donors has become more common worldwide due to the sharp increase in recipients with a consequent shortage of suitable organs. The definition of "marginal donor" has not been reached by all centers. We herein analyzed our single-center experience over the last 3 years in liver transplantation (OLT) to evaluate the outcomes of using a high percentage of so-called "marginal donors", according to the current classification from the National (Italian) Center of Transplantation (CNT). Among the 78 OLT performed in 77 patients from January 1, 2003 to October 31, 2005, donor livers were divided into three groups according to the CNT classification. We evaluated donor variables, cold ischemia time (CIT), warm ischemia time (WIT), MELD score, and length of hospital stay. Histologic graft steatosis was correlated with estimated steatosis by ultrasound. There were no differences among the three graft recipient groups concerning CIT, WIT, MELD score, and the length of hospital stay. Steatosis is indicated in all series as a definite variable for a higher risk of postoperative mortality. CIT is necessarily related to donor retrieval policy and organization. Donor age seemed also to be related to a possible increase in postoperative mortality, but there are significant variations in the definition of the age limit. We failed to observe a correlation between a higher mortality rate and any of the variables currently listed to define a "marginal donor." A shorter CIT seemed to positively influence the role played by the other variables identifying a "marginal liver." Finally, the use of HCV(+) or HBV(+) grafts did not lead to an increased mortality.