Sex-related differences in the presentation, management and response to treatment of eosinophilic esophagitis: Cross sectional analysis of EoE CONNECT registry.

Background: Eosinophilic esophagitis (EoE) predominantly affects males across all ages; however, little is known about sex differences for other aspects of EoE.

Objective: To investigate associations between sex and clinical presentation, endoscopic features, treatment choice and response in EoE patients in real-world practice.

Methods: Cross-sectional analysis of the multicenter EoE CONNECT registry.

Effectiveness and safety of brodalumab in the treatment of plaque, scalp and palmoplantar psoriasis: A multicentre retrospective study in a Spanish population.

Background And Objective: The data in clinical practice regarding the effectiveness and safety of brodalumab in psoriasis are scarce, especially at scalp and palmoplantar locations. The main objective was the percentage of patients achieving absolute PASI ≤3/ ≤1/ =0 for plaque psoriasis and the percentage of patients achieving an IGA 0-1/IGA 0 for the special locations at Week 52 of treatment.

Patients And Methods: Observational retrospective multicentre study in 28 Spanish Hospitals that included adult patients with plaque psoriasis treated with brodalumab, from September 2018 until March 2021.

Effectiveness and Safety of Ustekinumab in Elderly Patients with Crohn's Disease: Real World Evidence From the ENEIDA Registry.

Background And Aims: Clinical trials and real-life studies with ustekinumab in Crohn's disease [CD] have revealed a good efficacy and safety profile. However, these data are scarcely available in elderly patients. Therefore, we aim to assess the effectiveness and safety of ustekinumab in elderly patients with CD.

Characterization of hereditary transthyretin cardiac amyloidosis in Spain.

Introduction And Objectives: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort.

Methods: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers.

Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.

The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date.

Endoscopic ultrasound-guided transvascular needle biopsy of thoracic and abdominal lesions: a multicenter experience.

 Traditionally in the case of a vascular interposition, endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) has been contraindicated. A transvascular route (TV) is feasible and probably a safe alternative approach in selected patients, but data are scarce. The primary aim of this study was to analyze the diagnostic yield and safety of EUS-TV-FNA in thoracic and abdominal lesions.

Nutritional status and nutrition support in critically ill children in Spain: Results of a multicentric study.

Objectives: Critically ill children are often malnourished and require nutrition support (NS). Early enteral nutrition (EEN) seems to be safe in critically ill patients. However, there is a scarcity of data about the management of EEN in sick pediatric patients.

Ultra-early continuous cardiac monitoring improves atrial fibrillation detection and prognosis of patients with cryptogenic stroke.

Background And Purpose: Subclinical atrial fibrillation (AF) is known to underlie a number of cases of cryptogenic stroke (CrS). However, there is need to define the most effective strategy for AF detection. The diagnostic usefulness was analysed of a strategy based on ultra-early continuous monitoring in patients with CrS in terms of AF detection, oral anticoagulation treatment and stroke recurrence, in comparison to a standard outpatient strategy.

Epigenetic Deregulation of Protocadherin PCDHGC3 in Pheochromocytomas/Paragangliomas Associated With SDHB Mutations.

Context: SDHB mutations are found in an increasing number of neoplasms, most notably in paragangliomas and pheochromocytomas (PPGLs). SDHB-PPGLs are slow-growing tumors, but ∼50% of them may develop metastasis. The molecular basis of metastasis in these tumors is a long-standing and unresolved problem.

Influence of age, body mass index and comorbidity on major outcomes in acute pancreatitis, a prospective nation-wide multicentre study.

Background: There are few large prospective cohort studies evaluating predictors of outcomes in acute pancreatitis.

Objectives: The purpose of this study was to determine the role of age and co-morbid disease in predicting major outcomes in acute pancreatitis.

Methods: Data points were collected according to a predefined electronic data collection form.

Determinants of Severity in Acute Pancreatitis: A Nation-wide Multicenter Prospective Cohort Study.

Objective: The aim of this study was to compare and validate the different classifications of severity in acute pancreatitis (AP) and to investigate which characteristics of the disease are associated with worse outcomes.

Summary Of Background Data: AP is a heterogeneous disease, ranging from uneventful cases to patients with considerable morbidity and high mortality rates. Severity classifications based on legitimate determinants of severity are important to correctly describe the course of disease.

Management of COPD in End-of-Life Care by Spanish Pulmonologists.

Chronic obstructive pulmonary disease is progressive and in its advanced stage is associated with major disability. Previous studies suggest that patients with this disease receive little palliative care, even in very advanced stages. Given this, our objectives were to describe the clinical practice of Spanish pulmonologists in the care of patients with end-stage chronic obstructive pulmonary disease, to identify potential barriers to implementing palliative care in these patients and to correlate these responses with doctor's years of experience.

Long-Term Safety of In Utero Exposure to Anti-TNFα Drugs for the Treatment of Inflammatory Bowel Disease: Results from the Multicenter European TEDDY Study.

Objectives: The long-term safety of exposure to anti-tumor necrosis factor (anti-TNFα) drugs during pregnancy has received little attention. We aimed to compare the relative risk of severe infections in children of mothers with inflammatory bowel disease (IBD) who were exposed to anti-TNFα drugs in utero with that of children who were not exposed to the drugs.

Methods: Retrospective multicenter cohort study.

Variation in allergen content in sublingual allergen immunotherapy with house dust mites.

Background: Allergen immunotherapy is a treatment modality which can be applied using different vaccines. The aim of this study was to quantify and compare the allergen content of different house dust mites (HDM)' sublingual treatments and to review the evidence on their efficacy.

Methods: Five sublingual allergen immunotherapy (SLIT) products were ordered and purchased at an ordinary pharmacy and masked for blinding before the study was started.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Facioscapulohumeral muscular dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical inter- and intra-familial variability. It is caused by contractions of the D4Z4 repeat array on chromosome 4 to 1-10 units (FSHD1), or by mutations in the D4Z4-binding chromatin modifier SMCHD1 (FSHD2). Both situations lead to a partial opening of the D4Z4 chromatin structure and transcription of D4Z4-encoded polyadenylated DUX4 mRNA in muscle.

Expanding the clinical phenotypes of MT-ATP6 mutations.

Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in this gene.