Ignacio Málaga
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View article: Epilepsy in Wolf–Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature
Epilepsy in Wolf–Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature Open
Background: Wolf–Hirschhorn syndrome (WHS) is a rare contiguous gene deletion disorder associated with a high incidence of early-onset epilepsy. Despite the clinical relevance of seizures in this population, few large-scale studies have pr…
View article: Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf–Hirschhorn Syndrome
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf–Hirschhorn Syndrome Open
Background/Objectives: Wolf–Hirschhorn syndrome (WHS; OMIM #194190) is a rare neurodevelopmental disorder, caused by deletions in the distal short arm of chromosome 4. It is characterized by developmental delay, epilepsy, intellectual disa…
View article: A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy
A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy Open
Epilepsy constitutes the most common paroxysmal manifestation of glucose transporter type 1 deficiency (G1D) and is generally considered medication‐refractory. It can also prove therapeutic diet‐resistant. We examined acetazolamide effects…
View article: Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D) Open
Augmentation of anaplerosis, or replenishment of carbon lost during intermediary metabolic transitions, is desirable in energy metabolism defects. Triheptanoin, the triglyceride of 7-carbon heptanoic acid, is anaplerotic via direct oxidati…
View article: Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper
Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper Open
Background In recent years, significant advances have been made in the field of rare diseases (RDs). However, there is a large number of RDs without specific treatment and half of these treatments have public funding in Spain. The aim of t…
View article: Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients Open
Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations,…
View article: Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study Open
This set of outcome measures showed adequate reliability, construct validity, and discriminant validity and may constitute a valuable option to measure symptom severity in patients with SMA.
View article: Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients Open
SUMMARY Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involvin…
View article: Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol
Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol Open
Background The therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits. However, physicians still have the challenge of tailoring individuals…
View article: Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum Open
Background: GRIN-related disorders (GRD), the so-called grinpathies, is a group of rare encephalopathies caused by mutations affecting GRIN genes (mostly GRIN1, GRIN2A and GRIN2B genes), which encode for the GluN subunit of the N-methyl D-…
View article: Benign spasms of infancy or benign myoclonus of early infancy: polygraph‐EEG recordings
Benign spasms of infancy or benign myoclonus of early infancy: polygraph‐EEG recordings Open
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View article: Pull vs. wet: rendimiento diagnóstico y calidad de las muestras de las PAAF guiadas por USE en las masas sólidas del páncreas
Pull vs. wet: rendimiento diagnóstico y calidad de las muestras de las PAAF guiadas por USE en las masas sólidas del páncreas Open
Differential diagnosis of pancreatic masses is challenging. The endoscopic ultrasound-guided fine-needle aspiration method with the highest diagnostic yield has not been established. It was realized a prospective, randomized, double-blind …
View article: Fístula colecistocolónica: abordaje dual endoscópico. Reporte de un caso
Fístula colecistocolónica: abordaje dual endoscópico. Reporte de un caso Open
Cholecystocolonic fistula is an unusual and late complication of cholelithiasis. The symptoms usually are nonspecific and most cases are diagnosed intraoperatively. Our patient was a female, 75 years old, smoker, with a severe aortic steno…
View article: Insertion of fully covered self-expanding metal stents in benign biliary diseases
Insertion of fully covered self-expanding metal stents in benign biliary diseases Open
Fully covered self-expanding metal stents are an effective and reliable alternative for the resolution of benign biliary diseases.