The unusual association of three autoimmune diseases in a patient with Noonan syndrome.

We report on a 26-year-old female affected by Noonan syndrome (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including systemic lupus erythematosus, celiac disease, and Hashimoto thyroiditis. Autoimmunity is seldom described in NS and the association between this congenital disease and three autoimmune disorders has not been previously reported. Should the occurrence of autoimmune disorders in NS be confirmed, a relevant clinical and laboratory evaluation of NS patients should be performed in order to clarify whether the immune system involvement represents only an occasional event or is a feature of the disease.     

Gaining insight into the Clinical Practice Guideline development processes: qualitative study in a workshop to implement the GRADE proposal in Spain

Background  

The GRADE method represents a new approach to grading the quality of evidence and strength of recommendations in the preparation of Clinical Practice Guidelines (CPG). In the context of a pilot study to assess the implementability of the system in Spain, we considered it relevant to gain an insight into the significance of the perceptions and attitudes expressed by the actual experts participating in the system try-out.     

Gestación heterotópica espontánea

Heterotopic pregnancy is the combination of intrauterine and ectopic pregnancy. This potentially fatal condition rarely occurs in spontaneous conception cycles and consequently its diagnosis requires a high index of suspicion. We report a case of heterotopic pregnancy in a 30-year old primipara with no known risk factors who presented with acute abdominal pain due to a spontaneous heterotopic pregnancy. The ectopic pregnancy was resected via laparoscopy. After surgery, the intrauterine pregnancy was uneventful.     

Prospects of vaccines for invasive aspergillosis.

Invasive aspergillosis is a disease of immunocompromised hosts and the pathogenesis of this disorder is heavily dependent upon the defect within a given host. Consequently, vaccine development is limited by our understanding of effective host responses and by limitations in our knowledge of fungal molecules that elicit protective immunity. Nonetheless, the past few years have witnessed advances in our understanding both of the immune response to this organism and in the relationship between antigenicity and the ability to confer protection. Manipulations that promote the development of T(H)1-associated responses correlate with increased resistance to disease, at least partly because of consequent enhancement of innate cellular effector function. Two areas of investigation most actively being pursued include the search for adjuvants that will allow products of Aspergillus fumigatus to become effective vaccine candidates, regardless of the form of immunity they ordinarily induce, and the identification of the specific antigens that will most effectively elicit beneficial responses. Strategies using antigen-exposed dendritic cells as adjuvants appear to be particularly promising. Though we currently are far away from a candidate that is applicable for human trials, recent progress is encouraging.     

Nutritional status after intestinal transplantation in children.

INTRODUCTION: The management of children receiving small bowel grafts involves potentially life-threatening complications that affect their nutritional status. The aim of this paper was to define these factors and their influence on nutritional outcome. PATIENTS AND METHODS: Patients with intestinal failure (IF) who received an isolated small bowel transplantation (SBT) or small bowel/liver transplantation (SBLT) at our hospital during the last 6 years were reviewed for weight Z-score, biochemical nutritional parameters, total parenteral nutrition (TPN) weaning, catheter-related sepsis, rejection and steroid treatment. RESULTS: Twenty patients, 11 females and 9 males, received a SBT or a SBLT and survived the postoperative period; in the present study we only included 11 children with follow-up periods longer than 1 year. Seven males and 4 females with a mean age of 4.5 years (range, 1 to 20 years) received 6 SBLT and 5 SBT. Nine (82%) were weaned from TPN to an amino-acid or peptide enteral formula during the first 6 months after surgery. During the first year there was a significant increase in total protein from 5.11 +/- 1.8 mg/dl to 6.1 +/- 1.5 mg/dl (p < 0.05) and an increase in albumin from 3.8 +/- 0.9 mg/dl to 4.5 +/- 1.1 mg/dl (p < 0.05). There was an increase in weight Z-score in 9 patients (82%) during the first year. Mean Z-score improved from - 2.6 +/- 1 at transplant to - 1.0 +/- 0.6 (p < 0.05) after 1 year. Three patients (27.2%) had at least one rejection period, which was treated with steroids alone or in combination. Mean weight Z-score 1 year after surgery was - 0.9 +/- 0.6 for patients without rejection and - 1.24 +/- 0.8 for those with at least one rejection episode treated with steroids (p > 0.1). Four patients (36%) had at least one catheter-related sepsis episode. Mean weight Z-score 1 year after surgery was - 1.01 +/- 0.6 for patients without catheter-related sepsis and - 1.24 +/- 0.8 for those with at least one catheter-related sepsis episode (p > 0.1). CONCLUSIONS: There was a significant improvement in weight Z-score and biochemical nutritional parameters 1 year after receiving a small bowel graft. No influence of steroids or catheter-related sepsis on children's nutritional status was noted 1 year after surgery, although this point will need further evaluation.