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View article: Incidence and Pathophysiology of Gastrointestinal Bleeding During Mechanical Circulatory Support: A Retrospective Analysis Using Machine Learning Algorithms
Incidence and Pathophysiology of Gastrointestinal Bleeding During Mechanical Circulatory Support: A Retrospective Analysis Using Machine Learning Algorithms Open
Background: End-organ hypoperfusion from cardiopulmonary shock may require mechanical circulatory support (MCS). However, patients receiving MCS are at risk for hemorrhagic complications, including gastrointestinal (GI) bleeding. Examining…
View article: <b>Sensibilización genuina a carne de mamífero tipo res y cerdo. ¿Mito o realidad? </b>
<b>Sensibilización genuina a carne de mamífero tipo res y cerdo. ¿Mito o realidad? </b> Open
Antecedentes: La sensibilización genuina a la carne de res y cerdo es rara, siendo el alérgeno mejor caracterizado a la carne de res y cerdo (Bos d 6 y Sus s1). Existen diferentes presentaciones de alergia a carne de mamíferos: síndrome ga…
View article: Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life
Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life Open
Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE ‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives …
View article: Risk for Sepsis During Mechanical Circulatory Support
Risk for Sepsis During Mechanical Circulatory Support Open
Introduction Patients receiving mechanical circulatory support (MCS) risk the development of sepsis. Examining risk factors for the development of sepsis and their relationships to MCS may allow improved understanding of these complication…
View article: Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open
View article: Innovative Neuromodulation Strategies for OCD: The Triple Target Protocol Vs. Standard rTMS
Innovative Neuromodulation Strategies for OCD: The Triple Target Protocol Vs. Standard rTMS Open
View article: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open
View article: Limiting the gamble: Risk and predictability for renal replacement therapy in patients receiving mechanical circulatory support
Limiting the gamble: Risk and predictability for renal replacement therapy in patients receiving mechanical circulatory support Open
Background : Patients receiving mechanical circulatory support (MCS) frequently require renal replacement therapy (RRT). Examining risk factors for requiring RRT in patients receiving MCS may allow improved understanding of these comorbidi…
View article: 21358. EPILEPSIA DE ETIOLOGÍA GENÉTICA: CARACTERIZACIÓN CLÍNICA Y NEUROFISIOLÓGICA DE PACIENTES ADULTOS EN UN HOSPITAL DE TERCER NIVEL
21358. EPILEPSIA DE ETIOLOGÍA GENÉTICA: CARACTERIZACIÓN CLÍNICA Y NEUROFISIOLÓGICA DE PACIENTES ADULTOS EN UN HOSPITAL DE TERCER NIVEL Open
View article: Clinical and Molecular Spectrum of Autosomal Recessive <scp><i>CA8</i></scp>‐Related Cerebellar Ataxia
Clinical and Molecular Spectrum of Autosomal Recessive <span><i>CA8</i></span>‐Related Cerebellar Ataxia Open
Background Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3). …
View article: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy Open
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in elect…
View article: Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome Open
View article: Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND) Open
View article: ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization Open
View article: Biallelic<i>PARP1</i>Mutations Associated with Childhood-Onset Neurodegeneration
Biallelic<i>PARP1</i>Mutations Associated with Childhood-Onset Neurodegeneration Open
Summary PARP1 is the primary human sensor protein for DNA single-strand breaks, reduced repair of which results in neurodevelopmental and/or progressive neurodegenerative disease typified by cerebellar ataxia, and oculomotor apraxia. Here,…
View article: The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant Open
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patien…
View article: Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization
Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization Open
Background Cortical spreading depolarization, the cause of migraine aura, is a short-lasting depolarization wave that moves across the brain cortex, transiently suppressing neuronal activity. Prophylactic treatments for migraine, such as t…
View article: Preterm Birth and Early Life Environmental Factors: Neuropsychological Profiles at Adolescence and Young Adulthood
Preterm Birth and Early Life Environmental Factors: Neuropsychological Profiles at Adolescence and Young Adulthood Open
Background There is a lack of knowledge about whether preterm birth might lead to a greater susceptibility to early life environmental factors. The aim of this study was to establish the neuropsychological profiles in high- and low-risk pr…
View article: Physical Activity Levels and Health Quality of Life in Spanish Young Adults with Cancer Prior to and after Cancer Diagnosis
Physical Activity Levels and Health Quality of Life in Spanish Young Adults with Cancer Prior to and after Cancer Diagnosis Open
Purpose:To understand how healthy lifestyle behaviors patterns change across key phases of the disease in young adults.The main purposes were to evaluate change in minutes of physical activity in young adults with cancer across two timepoi…
View article: De novo <i>KCNA6</i> variants with attenuated <scp>K<sub>V</sub></scp>1.6 channel deactivation in patients with epilepsy
De novo <i>KCNA6</i> variants with attenuated <span>K<sub>V</sub></span>1.6 channel deactivation in patients with epilepsy Open
Objective Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelo…
View article: Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescence
Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescence Open
Background Aminoacyl-tRNA synthetases (ARS) are key enzymes catalysing the first reactions in protein synthesis, with increasingly recognised pleiotropic roles in tumourgenesis, angiogenesis, immune response and lifespan. Germline mutation…
View article: The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders Open
Background and Objective The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early‐onset, monogenic hyperkinetic movement disorders. Methods Patients were recruited from 14…
View article: Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To <i>PRRT2</i> Biallelic Variants
Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To <i>PRRT2</i> Biallelic Variants Open
Variants in PRRT2 (proline-rich transmembrane protein 2, OMIM*614386) can manifest as a variety of clinical phenotypes, including convulsions with paroxysmal choreoathetosis, paroxysmal kinesigenic dyskinesia (PKD), benign familial infanti…
View article: http://medcraveonline.com/JNSK/the-meaning-of-human-motor-patternnbsp.html
http://medcraveonline.com/JNSK/the-meaning-of-human-motor-patternnbsp.html Open
Describe and discuss possible correlations of visual perception and memory test results with neurophysiological test findings.
View article: Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases Open
View article: Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results
Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results Open
The TuberOus SClerosis registry to increase disease Awareness (TOSCA) Post-Authorization Safety Study (PASS) was a non-interventional, multicenter, safety substudy that assessed the long-term safety of everolimus in patients with tuberous …
View article: Elucidating the relationship between migraine risk and brain structure using genetic data
Elucidating the relationship between migraine risk and brain structure using genetic data Open
Migraine is a highly common and debilitating disorder that often affects individuals in their most productive years of life. Previous studies have identified both genetic variants and brain morphometry differences associated with migraine …
View article: Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization Open
Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the intera…
View article: Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry Open
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Scler…
View article: Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Open