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.     

SEOM clinical guidelines for the treatment of follicular non-Hodgkin’s lymphoma

Follicular lymphoma (FL) is the second most common subtype of non-Hodgkin’s lymphoma (NHL) in the Western world. FL constitutes the most frequent indolent lymphoma, well characterized by its clinical presentation related to nodal involvement and its morphologic and biologic features. It is often managed as an incurable disease. However, several active therapeutic approaches from the ‘wait and watch” strategy to the allogeneic transplantation are available for management of patients with FL and clearly have changed the natural history of this disease, achieving a long-term disease-free survival. Therapeutic decision is mostly conditioned by patient’s characteristics, stage, histological grade, tumor burden, and risk-predicting factors. This article try to summarizes the diagnosis and treatment of this heterogeneous group of patients.     

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.     

Altered dimerization of metabotropic glutamate receptor 3 in schizophrenia.

BACKGROUND: Metabotropic glutamate receptors (mGlus) may be involved in the pathophysiology of schizophrenia. Group II mGlus (mGlu2 and mGlu3) have attracted considerable interest since the development of potent specific agonists that exhibit atypical antipsychotic-like activity and reports of a genetic association between the mGlu3 gene and schizophrenia. METHODS: In this postmortem study, mGlu3 protein levels in Brodmann area 10 of prefrontal cortex from schizophrenic (n = 20) and control (n = 35) subjects were analyzed by western immunoblotting using a novel specific mGlu3 antibody and an antibody for the vesicular glutamate transporter 1 (VGluT1). RESULTS: We report a significant decrease in the dimeric/oligomeric forms of mGlu3 in schizophrenic patients compared with control subjects, whereas total mGlu3 and VGluT1 levels were not altered significantly. CONCLUSIONS: This is the first experimental evidence that mGlu3 receptor levels are altered in schizophrenia and supports the hypothesis that neurotransmission involving this particular excitatory amino acid receptor is impaired in schizophrenia.