Publications by authors named "Jesus Mora"

Sex is an important covariate in all genetic and epigenetic research due to its role in the incidence, progression and outcome of many phenotypic characteristics and human diseases. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a sex bias towards higher incidence in males. Here, we report for the first time a blood-based epigenome-wide association study meta-analysis in 9274 individuals after stringent quality control (5529 males and 3975 females).

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  • * Key mutations were identified in various genes, such as APC and TP53, with significant genomic alterations including a unique RAD51 biallelic deleterious translocation linked to homologous recombination deficiency.
  • * The research also found no major differences in mutation load or genetic features between traditional and oncocytic ACC subtypes, revealing a broad range of genomic changes that may help guide future cancer treatment options.
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Savulescu and Cameron supported selectively locking down the elderly during the COVID-19 pandemic on two grounds: first, that preserving total lockdown would entail levelling down and, second, that levelling down is wrong. Their first assumption has been thoroughly addressed, but more can be said about their wider antiegalitarian point that levelling down is simply wrong. Egalitarians are not defenceless against the levelling-down objection.

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The amyotrophic lateral sclerosis (ALS) functional rating scale-revised (ALSFRS-R) has become the most widely utilized measure of disease severity in patients with ALS, with change in ALSFRS-R from baseline being a trusted primary outcome measure in ALS clinical trials. This is despite the scale having several established limitations, and although alternative scales have been proposed, it is unlikely that these will displace ALSFRS-R in the foreseeable future. Here, we discuss the merits of delta FS (ΔFS), the slope or rate of ALSFRS-R decline over time, as a relevant tool for innovative ALS study design, with an as yet untapped potential for optimization of drug effectiveness and patient management.

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Background: This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS).

Methods: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel.

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Rosai-Dorfman disease is characterized by dilated lymph node sinuses filled with lymphocytes, plasma cells, and histiocytes. Many of these histiocytes classically exhibit emperipolesis of lymphocytes and plasma cells. Abundant immunoglobulin G4+ plasma cells occur in some cases, and a potential relationship with immunoglobulin G4-related disease has been suggested.

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  • - Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease marked by the loss of motor neurons, often leading to death from respiratory failure within 3 to 5 years, with a significant genetic component influencing its risk.
  • - A study analyzed telomere length using genetic data from 6,195 ALS patients and controls, revealing that individuals with ALS had 20% longer telomeres compared to controls after adjusting for age and sex, and this finding was validated using brain samples.
  • - Interestingly, shorter telomeres were associated with a 10% increase in median survival among ALS patients, suggesting that telomere length may play a role in the disease's progression and overall survival chances.
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  • * This study compares people with SOD1-related ALS to those without SOD1 variants, using extensive data from both groups to analyze age at symptom onset and survival time.
  • * Findings indicate that certain SOD1 variants are tied to younger ages of onset and unique survival patterns, suggesting that onset and survival can be independent in SOD1-ALS cases, highlighting the need for further research on rare variants.
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Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory for European marketing-authorization of adult treatments, unless a waiver is granted by the European Medicines Agency (EMA). To assess the feasibility of clinical studies on the effect of therapy in children (<18 years) with ALS in Europe.

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There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability.

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Tramadol reaches therapeutic plasma concentrations in a time interval of 0.5 to 1.7 hours, so it is necessary to dose 4 times/day, which reduces compliance with the dose and the effectiveness of the treatment.

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  • The study focuses on at least 12 species of hard ticks found in the Palearctic and Afrotropical regions, which are significant for veterinary and public health.
  • The taxonomy of these ticks is complex, with ongoing debates related to their geographic spread, morphological differences, and ability to transmit pathogens.
  • Research revealed two main genetic lineages, Tropical and Temperate, with findings suggesting that Mexico hosts these ticks, showing high genetic diversity and potential implications for disease transmission.
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Background: Thrombotic events are well documented in primary erythrocytosis, but it is uncertain if secondary etiologies increase the risk of thrombosis. This study aimed to determine the causes of erythrocytosis and to identify its impact as a risk factor for thrombosis.

Methods: Data were obtained from patients with erythrocytosis between 2000 and 2017 at a referral hospital in Mexico City.

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Background: A randomized, placebo-controlled phase III study (AB10015) previously demonstrated that orally administered masitinib (4.5 mg/kg/day) slowed rate of functional decline, with acceptable safety, in amyotrophic lateral sclerosis (ALS) patients having an ALS Functional Rating Scale-revised (ALSFRS-R) progression rate from disease onset to baseline of <1.1 points/month.

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Introduction: Clinical distinction between arbovirus infections and those caused by rickettsia is crucial to initiate appropriate medical treatment.

Objective: To compare the differences between Rocky Mountain spotted fever (RMSF) and other vector-borne diseases (dengue and chikungunya) with similar clinical presentation, and to identify data that could aid rapid diagnosis of these diseases.

Methods: We evaluated sociodemographic, clinical and laboratory data of 399 patients from five hospitals and clinics of Sonora, Mexico, between 2004 and 2016, with laboratory-confirmed diagnosis of RMSF, dengue, or chikungunya.

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  • A study was conducted to assess the safety, dose response, and initial efficacy of a treatment for patients with amyotrophic lateral sclerosis (ALS) over 12 weeks.
  • A total of 458 patients were enrolled, with results showing no significant improvements in the primary endpoint of slow upright vital capacity (SVC) or secondary measures like the ALS Functional Rating Scale and muscle strength mega-score during the 12 weeks.
  • While the main analysis did not reach statistical significance, trends indicated potential benefits for active treatment compared to placebo, and the treatment was generally well tolerated, with minor side effects and reversible liver and kidney issues noted.
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Motor neuron-specific microRNA-218 (miR-218) has recently received attention because of its roles in mouse development. However, miR-218 relevance to human motor neuron disease was not yet explored. Here, we demonstrate by neuropathology that miR-218 is abundant in healthy human motor neurons.

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Background: Rocky Mountain spotted fever (RMSF) is a significant public health problem in Sonora, Mexico, resulting in thousands of cases and hundreds of deaths. Outbreaks of RMSF are perpetuated by heavy brown dog tick infestations in and around homes. During 2009-2015, there were 61 RMSF cases and 23 deaths in a single community of Sonora (Community A).

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To assess masitinib in the treatment of ALS. Double-blind study, randomly assigning 394 patients (1:1:1) to receive riluzole (100 mg/d) plus placebo or masitinib at 4.5 or 3.

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Granulomas are circumscribed lesions mainly composed of mononuclear cells that arise in response to poorly degradable antigenic stimuli. They are found in 2-15 % of liver biopsies and the meaning of their finding can range from an incidental phenomenon to the manifestation of a systemic disease of infectious, autoimmune or neoplastic origin. Clinical presentation usually points at the underlying pathology; however, the list of associated conditions is extensive, and differs based on patient epidemiological history and baseline characteristics.

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The identification of more reliable diagnostic or prognostic biomarkers in age-related neurodegenerative diseases, such as Amyotrophic Lateral Sclerosis (ALS), is urgently needed. The objective in this study was to identify more reliable prognostic biomarkers of ALS mirroring neurodegeneration that could be of help in clinical trials. A total of 268 participants from three cohorts were included in this study.

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