An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. It can affect both males and females and can be classified into classic or later-onset phenotypes. In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs.

The International Consensus Classification of Mature Lymphoid Neoplasms: a report from the Clinical Advisory Committee.

Since the publication of the Revised European-American Classification of Lymphoid Neoplasms in 1994, subsequent updates of the classification of lymphoid neoplasms have been generated through iterative international efforts to achieve broad consensus among hematopathologists, geneticists, molecular scientists, and clinicians. Significant progress has recently been made in the characterization of malignancies of the immune system, with many new insights provided by genomic studies. They have led to this proposal.

Impact of 3-Monthly Long-Acting Injectable Paliperidone Palmitate in Schizophrenia: A Retrospective, Real-World Analysis of Population-Based Health Records in Spain.

Background: Treatment of schizophrenia requires long-term medication to prevent relapse. Treatment nonadherence may increase the risk of relapse, leading to increased hospitalizations and emergency room (ER) visits. Long-acting injectables (LAIs) such as paliperidone palmitate have improved treatment adherence and therefore symptoms.

Polyunsaturated Fatty Acid-Enriched Lipid Fingerprint of Glioblastoma Proliferative Regions Is Differentially Regulated According to Glioblastoma Molecular Subtype.

Glioblastoma (GBM) represents one of the deadliest tumors owing to a lack of effective treatments. The adverse outcomes are worsened by high rates of treatment discontinuation, caused by the severe side effects of temozolomide (TMZ), the reference treatment. Therefore, understanding TMZ's effects on GBM and healthy brain tissue could reveal new approaches to address chemotherapy side effects.

Risk and outcomes of COVID-19 in patients with multiple sclerosis.

Background And Purpose: Limited information is available on incidence and outcomes of COVID-19 in patients with multiple sclerosis (MS). This study investigated the risks of SARS-CoV-2 infection and COVID-19-related outcomes in patients with MS, and compared these with the general population.

Methods: A regional registry was created to collect data on incidence, hospitalization rates, intensive care unit admission, and death in patients with MS and COVID-19.

Gamma Knife radiosurgery and refractory glossopharyngeal neuralgia: a single-center series with long-term follow-up.

We present our experience with Gamma Knife surgery (GKS) and refractory glossopharyngeal neuralgia (GPN), analyzing its usefulness and safety in patients with or without previous surgeries, another concomitant neuralgia, or retreats. In addition, we study some factors that could condition the outcome of this technique. According to our review, our follow-up is the longest in the literature.

Near-fiber electromyography.

Objective: Describe and evaluate the concepts of near fiber electromyography (NFEMG), the features used, including near fiber motor unit potential (NFMUP) duration and dispersion, which relate to motor unit distal axonal branch and muscle fiber conduction time dispersion, and NFMUP segment jitter, a new measure of the temporal variability of neuromuscular junction transmission (NMJ), and axonal branch and muscle fibre conduction for the near fibres (i.e. NF jitter), and the methods for obtaining their values.

Differences in life expectancy between men and women after aortic valve replacement.

Objectives: Some researchers have observed an increased number of deaths during the follow-up of young patients who undergo aortic valve replacement due to severe aortic stenosis, suggesting that this procedure does not restore their life expectancy. Our goal was to confirm these findings and explore sex-based differences.

Methods: All patients between 50 and 65 years of age who underwent isolated aortic valve replacement in 27 Spanish centres during an 18-year period were included.

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.

Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We comprehensively assessed this need in 1109 variants from 825 clinical exomes, the largest sample set to date assessed using Illumina chemistry reported.

Outcomes After Vascular Surgery Procedures in Patients with COVID-19 Infection: A National Multicenter Cohort Study (COVID-VAS).

Objectives: To analyze the outcome of vascular procedures performed in patients with COVID-19 infection during the 2020 pandemic.

Methods: This is a multicenter, prospective observational cohort study. We analyzed data from 75 patients with COVID-19 infection undergoing vascular surgery procedures in 17 hospitals across Spain and Andorra between March and May 2020.

Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response.

Defective healing leading to cutaneous ulcer formation is one of the most feared complications of diabetes due to its consequences on patients' quality of life and on the healthcare system. A more in-depth analysis of the underlying molecular pathophysiology is required to develop effective healing-promoting therapies for those patients. Major architectural and functional differences with human epidermis limit extrapolation of results coming from rodents and other small mammal-healing models.

Evolution of patients with surgically treated drug-resistant occipital lobe epilepsy.

Background: This study was to describe the evolution of patients who underwent surgical treatment of drug- resistant occipital lobe epilepsy (OLE) at our institution.

Methods: We performed a retrospective analysis of data collected from electronic and paper clinical records of 20 patients who were diagnosed of OLE and underwent epilepsy surgery at our institution between 1998 and 2018. We also contacted patients by telephone and asked them to fill out a questionnaire about quality of life in epilepsy (QOLIE-10).

Symptomatic intracranial hemorrhages and frame-based stereotactic brain biopsy.

Background: Stereotactic biopsy is a well-established procedure in neurosurgery. Our objective is to define the clinical, radiological, and technical factors that can condition the emergence of postbiopsy symptomatic intracranial hemorrhage. Based on our findings, we suggest recommendations to improve its usual clinical practice.

Frequent activating PIK3CA mutations in sporadic angiolipoma.

Background: Angiolipoma (AL) is considered as a lipoma variant that is characterized by the combination of mature adipocytes and capillary blood vessels diffusely distributed within the tumor. With the exception of recurrent PRKD2 mutations of uncertain pathogenetic significance, the genetic abnormalities of ALs are unknown, in the absence of any of the specific chromosomal aberrations described in other lipoma variants.

Methods: Formalin-fixed and paraffin-embedded blocks of 13 conventional ALs and 5 cellular ALs from 17 individuals were retrieved and analyzed for mutations in exons 9 and 20 of PIK3CA by polymerase chain reaction and Sanger sequencing.

User profiles of electronic ecological momentary assessment in outpatient child and adolescent mental health services.

Introduction: Electronic ecological momentary assessment (EMA) can provide precise information regarding day-to-day functioning of patients overcoming some of the limitations of usual clinical evaluation; however adherence to this methodology might be a major threat. Research and application of EMA concerning clinical settings remains scant. Our goal was to study the user profiles of EMA in a clinical sample of adolescents.

Expansion of PD1-positive T Cells in Nodal Marginal Zone Lymphoma: A Potential Diagnostic Pitfall.

The diagnosis of nodal marginal zone lymphoma (NMZL) can be challenging, with the differential diagnosis including other low-grade B-cell lymphomas, reactive hyperplasia, and even some cases of peripheral T-cell lymphoma (PTCL). PTCL may have a perifollicular growth pattern mimicking NMZL. We and others have noted an atypical distribution of T-follicular helper (TFH) cells in some cases of NMZL.

Comparative Study of Infliximab Versus Adalimumab in Refractory Uveitis due to Behçet's Disease: National Multicenter Study of 177 Cases.

Objective: To compare the efficacy of infliximab (IFX) versus adalimumab (ADA) as a first-line biologic drug over 1 year of treatment in a large series of patients with refractory uveitis due to Behçet's disease (BD).

Methods: We conducted an open-label multicenter study of IFX versus ADA for BD-related uveitis refractory to conventional nonbiologic treatment. IFX or ADA was chosen as the first-line biologic agent based on physician and patient agreement.

Interruption of onchocerciasis transmission in Bioko Island: Accelerating the movement from control to elimination in Equatorial Guinea.

Background: Onchocerciasis, also known as river blindness, is a parasitic disease. More than 99 percent of all cases occur in Africa. Bioko Island (Equatorial Guinea) is the only island endemic for onchocerciasis in the world.