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View article: Correction: Association of bilaterally suppressed EEG amplitudes and outcomes in critically ill children
Correction: Association of bilaterally suppressed EEG amplitudes and outcomes in critically ill children Open
View article: Corrigendum to “High association of MOG-IgG antibodies in children with bilateral optic neuritis” [Eur. J. Paediatr. Neurol. 27 (2020) 86–93]
Corrigendum to “High association of MOG-IgG antibodies in children with bilateral optic neuritis” [Eur. J. Paediatr. Neurol. 27 (2020) 86–93] Open
View article: Individualized online exercise therapy aids recovery in pediatric long-COVID - Findings from an exploratory randomized controlled trial
Individualized online exercise therapy aids recovery in pediatric long-COVID - Findings from an exploratory randomized controlled trial Open
Purpose To evaluate the feasibility, safety, and effectiveness of an individualized online exercise therapy (IOET) designed to improve physical capacity and quality of life in children and adolescents with long-COVID. Methods In this prosp…
View article: Co-occurrence of myositis and neuropathy after anti-CD30 therapy in a late-adolescent Hodgkin lymphoma patient
Co-occurrence of myositis and neuropathy after anti-CD30 therapy in a late-adolescent Hodgkin lymphoma patient Open
Objective Immune-related adverse events (irAEs) are recognized in oncology, particularly with immune checkpoint inhibitors and other targeted therapies. Brentuximab Vedotin (BV), is an anti-CD30 antibody–drug conjugate- its association wit…
View article: Bacteriological Spectrum of UTI in Patients of Chronic Kidney Disease with Diabetes Mellitus in Bangladesh
Bacteriological Spectrum of UTI in Patients of Chronic Kidney Disease with Diabetes Mellitus in Bangladesh Open
Background: Urinary tract infections (UTIs) are a significant concern in chronic kidney disease (CKD) patients, particularly those with diabetes mellitus (DM), due to immune dysfunction and glycosuria. The increasing burden of antimicrobia…
View article: Congenital infection with Plasmodium malariae: a rare case of intrauterine transmission in Germany
Congenital infection with Plasmodium malariae: a rare case of intrauterine transmission in Germany Open
View article: Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data
Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data Open
View article: Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome Open
View article: Congenital Infection with Plasmodium malariae - A Rare Case of Intrauterine Transmission in Germany
Congenital Infection with Plasmodium malariae - A Rare Case of Intrauterine Transmission in Germany Open
Background: Malaria remains the leading parasitic disease worldwide with a significant global morbidity and mortality burden. Plasmodium malariae, the least prevalent of the five Plasmodium species that cause human malaria, has unique char…
View article: Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort
Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort Open
View article: Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy
Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy Open
View article: Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant Open
View article: Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome Open
Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe ment…
View article: Association of bilaterally suppressed EEG amplitudes and outcomes in critically ill children
Association of bilaterally suppressed EEG amplitudes and outcomes in critically ill children Open
Background and objectives Amplitude-integrated EEG (aEEG) is used to assess electrocortical activity in pediatric intensive care if (continuous) full channel EEG is unavailable but evidence regarding the meaning of suppressed aEEG amplitud…
View article: Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis
Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis Open
Myasthenia gravis is a chronic antibody-mediated autoimmune disease disrupting neuromuscular synaptic transmission. Informative biomarkers remain an unmet need to stratify patients with active disease requiring intensified monitoring and t…
View article: Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study Open
Background Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets. Objectives The objective was to evaluate the effectiveness and safety of triheptanoin in r…
View article: Novel Genetic and Biochemical Insights into the Spectrum of <i>NEFL</i> -Associated Phenotypes
Novel Genetic and Biochemical Insights into the Spectrum of <i>NEFL</i> -Associated Phenotypes Open
Background: NEFL encodes for the neurofilament light chain protein. Pathogenic variants in NEFL cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT) which present with a varying degree of severity and som…
View article: Proteomic studies in <i>VWA1</i>‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
Proteomic studies in <i>VWA1</i>‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers Open
Bi‐allelic variants in VWA1 , encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child‐ or adulthood. Clinical findings in…
View article: Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy Open
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron ( SMN1 ) gene (localized on 5q). In consequence, cells lack expression of the corresponding protein. T…
View article: Pediatric Community-Acquired Brain Abscesses: A Single-center Retrospective Study
Pediatric Community-Acquired Brain Abscesses: A Single-center Retrospective Study Open
The European Society for Clinical Microbiology and Infectious Diseases recommends 3rd generation cephalosporins and metronidazole for empirical treatment of community-acquired brain abscesses. In 53 retrospectively analyzed pediatric patie…
View article: A Homozygous <i>NDUFS6</i> Variant Associated with Neuropathy and Optic Atrophy
A Homozygous <i>NDUFS6</i> Variant Associated with Neuropathy and Optic Atrophy Open
Background: The NADH dehydrogenase [ubiquinone] iron-sulfur protein 6 ( NDUFS6) gene encodes for an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Bi-allelic NDUFS6 variants have been link…
View article: Bilaterally suppressed EEG amplitudes predict death and poor functional outcomes in critically ill children
Bilaterally suppressed EEG amplitudes predict death and poor functional outcomes in critically ill children Open
Background and objectives Continuous full-channel EEG is the gold standard for electrocortical activity assessment in critically ill children, but its implementation faces challenges, leading to a growing use of amplitude-integrated EEG (a…
View article: Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q Open
Pathogenic variants in SPART cause Troyer syndrome, characterized by lower extremity spasticity and weakness, short stature and cognitive impairment, and a severe mitochondrial impairment. Herein, we report the identification of a role of …
View article: The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD) Open
In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). Fetal AChR antibodies have also been implicated in apparent…
View article: Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects Open
Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurologica…
View article: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Open
View article: High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID—A Single Center Cohort Study
High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID—A Single Center Cohort Study Open
Background: Long COVID (LC) is a diagnosis that requires exclusion of alternative somatic and mental diseases. The aim of this study was to examine the prevalence of differential diagnoses in suspected pediatric LC patients and assess whet…
View article: Guideline for the management of myasthenic syndromes
Guideline for the management of myasthenic syndromes Open
Myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS) represent an etiologically heterogeneous group of (very) rare chronic diseases. MG and LEMS have an autoimmune-mediated etiology, w…
View article: Development of restrictive eating disorders in children and adolescents with long-COVID-associated smell and taste dysfunction
Development of restrictive eating disorders in children and adolescents with long-COVID-associated smell and taste dysfunction Open
Background Absent or abnormal senses of smell and taste have been frequently reported during both acute and long COVID in adult patients. In contrast, pediatric patients who test positive for SARS-CoV-2 are often asymptomatic and the loss …
View article: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Open