Risk factors for one-year mortality in 440 femoral peri-implant fractures: insights from the PIPPAS prospective, multicentre, observational study.

Aims: The Peri-Implant and PeriProsthetic Survival AnalysiS (PIPPAS) study aimed to investigate the risk factors for one-year mortality of femoral peri-implant fractures (FPIFs).

Methods: This prospective, multicentre, observational study involved 440 FPIF patients with a minimum one-year follow-up. Data on demographics, clinical features, fracture characteristics, management, and mortality rates were collected and analyzed using both univariate and multivariate analyses.

ASYMPTOMATIC INFLAMMATORY BOWEL DISEASE DIAGNOSED DURING COLORECTAL CANCER POPULATION SCREENING IN CATALONIA: CHARACTERISTICS AND NATURAL HISTORY.

Introduction: Inflammatory bowel disease (IBD) is usually diagnosed when symptomatic. Prognosis and evolution of preclinical IBD is largely unknown. However, colorectal cancer screening programs (CRCSP) detect a subset of IBD patients with no symptoms.

Spanish Consensus on Remission in Asthma (REMAS).

The concept of "remission" in asthma has been around for a long time and it has been a controversial topic. Despite the attempts of some studies to characterize this entity, the discussion continues. In the case of asthma there is still no clear definition, either in terms of its meaning or the parameters that should be included or whether it should be divided into clinical or complete remission.

Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.

The identification of disease-characteristic patterns of muscle fatty replacement in magnetic resonance imaging (MRI) is helpful for diagnosing neuromuscular diseases. In the Clinical Outcome Study of Dysferlinopathy, eight diagnostic rules were described based on MRI findings. Our aim is to confirm that they are useful to differentiate dysferlinopathy (DYSF) from other genetic muscle diseases (GMD).

[Consensus document for severe asthma in adults. 2022 update].

Severe asthma is a heterogeneous syndrome with several clinical variants and often represents a complex disease requiring a specialized and multidisciplinary approach, as well as the use of multiple drugs. The prevalence of severe asthma varies from one country to another, and it is estimated that 50% of these patients present a poor control of their disease. For the best management of the patient, it is necessary a correct diagnosis, an adequate follow-up and undoubtedly to offer the best available treatment, including biologic treatments with monoclonal antibodies.

Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management.

Pompe disease is a genetic disorder produced by mutations in the gene leading to absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the breakdown of glycogen into glucose. There are two main phenotypes, the infantile consisting of early onset severe weakness and cardiomyopathy, and the adult which is characterized by slowly progressive skeletal and respiratory muscle weakness. Enzymatic replacement therapy (ERT) has been available for Pompe disease for more than 15 years.

Dual neoadjuvant blockade plus chemotherapy versus monotherapy for the treatment of women with non-metastatic HER2-positive breast cancer: a systematic review and meta-analysis.

Background: We aimed to determine the effect of dual anti-HER2 blockade compared to monotherapy on clinically important outcomes.

Methods: We carried out a systematic review updated until July 2022. The outcomes included pathological complete response (pCR), clinical response, event-free survival, and overall survival.

Muscle MRI in McArdle Disease: A European Multicenter Observational Study.

Background And Objectives: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur, but it is typically mild and described as located around the shoulder girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature.

The value of sentinel lymph-node biopsy after neoadjuvant therapy: an overview.

Purpose: We conducted a systematic review to analyse the performance of the sentinel lymph-node biopsy (SLNB) after the neoadjuvant chemotherapy, compared to axillary lymph-node dissection, in terms of false-negative rate (FNR) and sentinel lymph-node identification rate (SLNIR), sensitivity, negative predictive value (NPV), need for axillary lymph-node dissection (ALND), morbidity, preferences, and costs.

Methods: MEDLINE, Embase, Scopus, and The Cochrane Library were searched. We assessed the quality of the included systematic reviews using AMSTAR2 tool, and estimated the degree of overlapping of the individual studies on the included reviews.

Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.

Rimeporide, a first-in-class sodium/proton exchanger Type 1 inhibitor (NHE-1 inhibitor) is repositioned by EspeRare for patients with Duchenne Muscular Dystrophy (DMD). Historically, NHE-1 inhibitors were developed for cardiac therapeutic interventions. There is considerable overlap in the pathophysiological mechanisms in Congestive Heart Failure (CHF) and in cardiomyopathy in DMD, therefore NHE-1 inhibition could be a promising pharmacological approach to the cardiac dysfunctions observed in DMD.

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Objective: The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric cancer, no disease association has been described. We describe a new muscular dystrophy associated with this gene.

Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.

Muscle loss due to fibrotic or adipogenic replacement of myofibers is common in muscle diseases and muscle-resident fibro/adipogenic precursors (FAPs) are implicated in this process. While FAP-mediated muscle fibrosis is widely studied in muscle diseases, the role of FAPs in adipogenic muscle loss is not well understood. Adipogenic muscle loss is a feature of limb girdle muscular dystrophy 2B (LGMD2B) - a disease caused by mutations in dysferlin.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population.

Objective: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients.

SEOM Clinical Guideline update for the prevention of chemotherapy-induced nausea and vomiting (2016).

Chemotherapy-induced nausea and vomiting is one of the most worrisome adverse effects of chemotherapy for cancer patients. It can cause severe discomfort and affect the quality of life. In recent years, the incorporation of new drugs has increased the efficacy of antiemetic treatments in the control of emesis associated with chemotherapy.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy.

Opioid Receptor Antagonists in the Treatment of Alcoholism.

Objectives: On the basis of the recent advances in drug therapy of alcoholism, we conducted a review on opioid receptor antagonist drugs with approved indication for the treatment of alcoholism, such as naltrexone and nalmefene.

Methods: We reviewed over 100 publications on peptides and opioid receptors, as well as studies conducted in experimental animals and in humans on the effect of opioid receptor antagonists on alcohol consumption in the treatment of alcoholism. We also reviewed the pharmacological characteristics of naltrexone and nalmefene, and the usefulness of these drugs in clinical practice.

Zoledronic acid as compared with observation in multiple myeloma patients at biochemical relapse: results of the randomized AZABACHE Spanish trial.

This study analyzed the anti-myeloma effect of zoledronic acid monotherapy by investigating patients at the time of asymptomatic biochemical relapse. One hundred patients were randomized to receive either zoledronic acid (4 mg iv/4 weeks, 12 doses) (n=51) or not (n=49). Experimental and control groups were well balanced for disease and prognostic features.

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.