Publications by authors named "Velardo D"

Article Synopsis
  • Guillain-Barré syndrome (GBS) is an immune-mediated disorder with varied symptoms often triggered by infections, including viral ones.
  • An 80-year-old man exhibited signs of GBS/Miller-Fisher syndrome overlap after a respiratory infection, and tests showed herpes simplex virus type 1 DNA in his cerebrospinal fluid.
  • Treatment with intravenous immunoglobulin and acyclovir led to recovery, highlighting the importance of considering viral infections as potential triggers for autoimmune neurological conditions.
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  • Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
  • A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
  • Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
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  • The study focuses on diagnosing myofibrillar myopathies (MFM) and distal myopathies (DM), addressing the complexity due to numerous causative genes and overlapping symptoms.
  • It involves a retrospective analysis of data from 132 MFM and 298 DM patients collected from various neuromuscular centers, highlighting demographic, genetic, and clinical details.
  • Results indicate that 63% of patients had molecular confirmation of their condition, with significant findings including common pathogenic variants and varying ages of onset, as well as notable cardiac and respiratory complications linked to specific genetic variants.
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Mutual interactions between the diaphragm and lung transplantation (LTx) are known to exist. Before LTx, many factors can exert notable impact on the diaphragmatic function, such as the underlying respiratory disease, the comorbidities, and the chronic treatments of the patient. In the post-LTx setting, even the surgical procedure itself can cause a stressful trauma to the diaphragm, potentially leading to morphological and functional alterations.

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Objectives: Becker muscular dystrophy (BMD) is a relatively less investigated neuromuscular disease, partially overlapping the phenotype of Duchenne dystrophy (DMD). Physiopathological and anatomical patterns are still not comprehensively known, despite recent effort in the search of early biomarkers. Aim of this study was to selectively compare normal appearing muscles of BMD with healthy controls.

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Background: Congenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a fatal outcome in the most severe cases but can either be benign or lead to an amelioration even in severe presentations.

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Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findings of a novel 63-years-old LGMDR8 patient of Italian origins, who went undiagnosed for 24 years. Clinical exome sequencing identified two missense variants, c.

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Background: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA).

Methods: People aged between 18 and 60 were recruited as being DRA carriers.

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Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence. Pathognomonic is the presence of abnormal glycogen aggregates that, over time, produce large inclusions (Lafora bodies) in various tissues.

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POEMS syndrome-characterized by polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes-is an uncommon and complex paraneoplastic disorder encompassing a diverse array of symptoms. Here we report the challenging case of a 34-year-old female who sought medical attention at the emergency department due to distal lower limb weakness. She was breastfeeding her first child at that time.

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Article Synopsis
  • Becker muscular dystrophy is a type of neuromuscular disorder caused by mutations in the DMD gene, with existing research primarily focusing on cognitive issues in Duchenne muscular dystrophy.
  • This study aimed to evaluate cognitive function in Becker muscular dystrophy patients using a detailed neuropsychological assessment, hypothesizing that working memory would be significantly impaired.
  • Results showed that patients had notable difficulties specifically in tasks related to working memory, indicating a selective cognitive impairment that diminishes their intellectual potential but does not reach the level of intellectual disability.
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  • HyperCKemia is linked to neuromuscular diseases and can appear with various symptoms like cramps and weakness, prompting an investigation into its genetic causes.
  • A study of 139 patients found a definite genetic diagnosis in 15.1% of cases, while 39.5% showed candidate variants, indicating a diverse genetic background.
  • The research highlights genetic heterogeneity in hyperCKemia, suggesting that some cases may be caused by external factors rather than inherited genetic mutations.
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  • Phospholamban is crucial for regulating calcium in cardiac muscle, with mutations in its gene linked to serious heart conditions like arrhythmogenic cardiomyopathy and dilated cardiomyopathy.
  • Current understanding of these mutations is limited, especially regarding their effects on skeletal muscle, which motivated a study of a patient with a specific mutation who experiences both heart issues and skeletal muscle symptoms.
  • The investigation revealed significant changes in the patient's skeletal muscle, including abnormal fiber structures and protein alterations, highlighting the need for further research to potentially identify a new type of myopathy linked to phospholamban mutations.
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Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive myopathy due to biallelic pathogenic variants in , encoding the sarcoplasmic/endoplasmic reticulum Ca ATPase SERCA1. About 40 patients have been reported so far. Our knowledge about the natural history of this disorder, genotype-phenotype correlations and the effect of symptomatic treatment is partial.

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Background: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy.

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Collagen VI is a heterotrimeric protein expressed in several tissues and involved in the maintenance of cell integrity. It localizes at the cell surface, creating a microfilamentous network that links the cytoskeleton to the extracellular matrix. The heterotrimer consists of three chains encoded by , and genes.

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  • The study aimed to evaluate the effectiveness and safety of givinostat, a treatment for Becker muscular dystrophy (BMD), in adult males, comparing it to a placebo over 12 months.
  • Out of 51 enrolled patients, the treatment did not show a statistically significant improvement in total fibrosis or other primary endpoints after 12 months, although secondary MRI assessments hinted that givinostat might slow disease progression.
  • Most adverse events reported were mild to moderate, with 88.2% of patients on givinostat and 52.9% on placebo experiencing side effects.
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system (CNS). We present the case of a man affected with an oligosymptomatic, genetically determined MELAS syndrome, whose clinical picture dramatically and irreversibly worsened following a mild head injury. We hypothesize that the CNS metabolic stress induced by the brain injury activated an irreversible cascade of events leading to progressive neurodegeneration because damaged mitochondria were unable to restore the balance between energy requirements and availability.

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Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the dystrophin protein. A resolutive therapy for DMD is not yet available. The first approved drug for DMD patients with nonsense mutations is ataluren, approved for the treatment of children aged ≥ 2 yrs, that seems effective in slowing the disease progression.

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Background: Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mitochondrial membranes. Autosomal recessive CHKB mutations cause a rare form of congenital muscular dystrophy known as megaconial congenital muscular dystrophy (MCMD).

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  • Sarcoglycanopathies show diverse severity in symptoms like muscle weakness and heart/lung issues, primarily related to the amount of residual protein, making protein quantification important for diagnosis.
  • This study introduces a new sensitive technique using immunofluorescence for semi-quantifying sarcoglycans in muscle samples, as traditional methods like Western blot can be limited by sample size.
  • Findings indicate that patients with earlier disease onset exhibit a significant lack of mutated sarcoglycan expression and a correlation between certain sarcoglycan levels and fibrosis, suggesting the new method can help predict disease progression and assess treatment effectiveness.
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  • - Statins are commonly prescribed to high-risk patients for heart and brain health, and while they are generally safe, they can cause serious muscle-related side effects, making up about 66% of adverse reactions.
  • - These side effects include muscle cramps, pain, weakness, and, in rare cases, severe conditions like rhabdomyolysis and peripheral neuropathy, which may worsen pre-existing muscle issues.
  • - Ongoing patient monitoring and adjusting statin use or switching to alternative medications can help mitigate these risks, and future genetic and environmental research may lead to more personalized treatment approaches for those on statins.
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Filamin C is a large dimeric actin-binding protein, most prevalent in skeletal and cardiac muscle Z-discs, where it participates in sarcomere mechanical stabilization and intracellular signaling, interacting with numerous binding partners. Dominant heterozygous mutations of Filamin C gene cause several forms of myopathy and structural or arrhythmogenic cardiomyopathy. In this report we describe clinical and molecular findings of two Italian patients, in whom we identified two novel missense variants located within the Filamin C actin binding domain.

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Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder due to mutation in the DMD gene, encoding dystrophin. Despite a wide clinical variability, BMD is characterized by progressive muscle degeneration and proximal muscle weakness. Interestingly, a dysregulated expression of muscle-specific microRNAs (miRNAs), called myomirs, has been found in patients affected with muscular dystrophies, although few studies have been conducted in BMD.

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Objectives: The c.254C>G (p.S85C) variant causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM), which is characterized by progressive, asymmetric, predominantly distal muscle weakness, dysphonia, dysphagia, and respiratory impairment.

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