The impact of immune dysregulation on the risk of malignancy in common variable immunodeficiency: insights from a multicenter study.

Background: Common Variable Immunodeficiency (CVID) represents a heterogenic group of primary immunodeficiencies (PID) characterized by impaired antibody production and susceptibility to infections. Non-infectious complications, such as autoimmune diseases, lymphoproliferative disorders, and malignancies, now significantly impact prognosis. Moreover, both hematologic and solid organ malignancies are more frequently observed in CVID patients compared to other PIDs.

[Utility of the AGREE tool for the development and evaluation of clinical protocols: From theory to clinical practice].

Introduction And Objective: Clinical protocols are tools for the delivery of optimal and quality healthcare. However, there are often shortcomings in the quality of their design that invalidate their implementation. The aim of this study is to describe a systematic evaluation of clinical protocols, to analyse their quality in order to enable their implementation.

Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin.

Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency.

Methods: For 6 months, all SPE carried out for any reasons were evaluated in our center.

Recommendations for oral treatment for adult patients with type 1 Gaucher disease.

This work is a review of the scientific evidence on the oral treatment of adult patients with Gaucher disease type 1 (GD1) with a clinical guideline format according to the Agree II regulations. It describes the main differences between the two oral treatments currently available for treating this disease (miglustat and eliglustat). This review reminds us that the criteria for starting oral treatment in patients with GD1 must be assessed individually.

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with autosomal dominant inheritance that causes systemic vascular affectation.

Material And Method: After development a multicentric Spanish national registry, called RiHHTa, main clinical manifestations and diagnostic procedures of the first patients introduced are described.

Results: 141 patients were included, of which 91 (64.

The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease.

Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care. This involves a range of medical specialists, general practitioners, supportive care providers, and patients. Phenotype classification and the setting of treatment goals are important for optimizing the management of type I GD, and for providing personalized care.

The pathophysiology of Fabry disease.

Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease.

Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.

Pompe disease is a rare metabolic myopathy whose diagnosis is sometimes delayed despite being essential for improving clinical outcomes. We aimed to investigate the prevalence of late-onset Pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (CK) levels, in a department of internal medicine. A cohort study was conducted in 241 subjects: 140 patients with myopathies of unknown origin or increased CK levels, 30 with polymyositis and 71 who constituted the control group of other myopathies.

Lymphomatosis cerebri mimicking iatrogenic Creutzfeldt-Jakob disease.

Lymphomatosis cerebri (LC) is a rare variant of primary central nervous system lymphoma (PCNSL) whereby individual lymphoma cells infiltrate the cerebral white matter without causing a mass effect. The disease characteristically presents as a rapidly progressive dementia, which opens an ample differential diagnosis of toxic, metabolic, neurodegenerative and infective causes. Other presentations also include changes in personality, myoclonus and psychotic symptoms.

Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease.

Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the α-galactosidase A gene. It is characterized by the deposition of the incompletely metabolized substrate globotriaosylceramide in several cell types and multisystem involvement. Major morbidity results from renal, cardiac and cerebrovascular pathology, mediated by endothelial dysfunction.

[Atypical presentation of microscopic polyangiitis].

Microscopic polyangiitis is a systemic vasculitis that affects small caliber vessels, with renal and lung compromise. We present the case of a patient with an atypical presentation of this disease and an onset characterized by central nervous system affection in the form of a motor deficit.

[Early response to idursulfase in a 31-year old male patient with Hunter syndrome].

The response to Enzyme Replacement Therapy (ERT) in Hunter syndrome (MPS II) occurs early in most of the patients after its initiation and continues during the first 12-18 months. However, almost all the patients with MPS II have severe forms of the disease and death occurs prematurely. More than 90% of subjects die before 25 years, and only a minority will survive after the age of 30.