Publications by authors named "Pini A"
Objective: This study investigates the prevalence and underlying factors of fatigue in individuals with Marfan syndrome (MFS) and hypermobile Ehlers-Danlos syndromes (hEDS), highlighting the necessity for focused research on this symptom within these patient populations.
Design: Cross-sectional, multicentre study.
Setting: Data were collected from participants diagnosed with MFS or hEDS across multiple healthcare centres.
The high-altitude hypoxia model demonstrates that insufficiently oxygenated placentas activate compensatory mechanisms to ensure fetal survival, hinging on the transcription factor hypoxia-inducible factor-1. The aim of the present study is to investigate whether and when similar mechanisms are also activated during intrauterine growth restriction (IUGR). A retrospective observational study evaluated a series of umbilical cord blood samples, which provide a realistic representation of the fetal intrauterine status, collected from a cohort of preterm and term neonates, both affected and not affected by IUGR.
View Article and Find Full Text PDFBackground: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.
Article Synopsis
- The study aimed to assess the prevalence, age distribution, and functional status of Duchenne muscular dystrophy (DMD) in Italy, highlighting improvements in care recommendations.
- The survey involved data collection from 31 reference centers across the country, identifying key demographic and functional factors among 972 diagnosed individuals aged 6 months to 48 years.
- Results showed a prevalence of 1.65/100,000 people, with 43% ambulant and 57% non-ambulant, and most patients did not require significant respiratory or nutritional support.
At different stages of life, from embryonic to postnatal, varying oxygen concentrations modulate cellular gene expression by enhancing or repressing hypoxia-inducible transcription factors. During embryonic/fetal life, these genes encode proteins involved in adapting to a low-oxygen environment, including the induction of specific enzymes related to glycolytic metabolism, erythropoiesis, angiogenesis, and vasculogenesis. However, oxygen concentrations fluctuate during intrauterine life, enabling the induction of tissue-specific differentiation processes.
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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.
Article Synopsis
- Immunogenic cell death (ICD) offers a new avenue for treating non-immunoreactive tumors that typically resist standard therapies.
- The study focused on two new oncolytic peptides, BOP7 and BOP9, which selectively killed pancreatic cancer cells while sparing non-tumor cells, attributed to their ability to bind to specific molecules on cancer cells.
- BOPs not only showed promising tumor-specific cytotoxicity, triggering the release of pro-inflammatory signals (DAMPs), but also demonstrated anti-metastatic properties and effectiveness in reducing tumor growth in a mouse model of pancreatic cancer.
Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.
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- * A selection of six branched peptides, designed to improve resistance to proteases and boost efficacy, was tested for antibacterial activity, biofilm inhibition, cytotoxicity, and resistance to breakdown.
- * The peptide BAMP2 demonstrated encouraging results in treating mouse skin infections, suggesting its potential for local application in infection management.
, a pathogen capable of causing diseases ranging from mild to life-threatening, has a large arsenal of virulence factors. Notably, extracellular vesicles have emerged as significant players in the pathogenesis of this organism. However, the full range of their functions is still being studied, and difficulties related to vesicle purification (long protocols, low yields, and specialized instruments) have become a major obstacle for their characterization.
View Article and Find Full Text PDFAim: To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.
Method: This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.
Shielding design is an essential aspect of radiation protection. It is necessary to ensure that barriers safeguard workers, patients, the general public, and the environment from the harmful radiation emitted by X-ray machines. The National Council on Radiation Protection and Measurements (NCRP) 147 method is widely accepted within the radiation protection experts' (RPEs) community for structural shielding design for medical X-ray imaging facilities.
View Article and Find Full Text PDFEvaluating test-retest reliability is crucial in biomechanical research, as it validates experimental results. While methods for reliability of scalar outcome variables are well-established, methods to assess reliability of continuous curve data (such as joint angle trajectories during gait) remain less explored. This study investigates methods for constructing confidence sets for curve-level intraclass correlation coefficients (ICC), which can be expressed as either an ICC curve or an integrated ICC.
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- Organogenesis in the uterus occurs under low oxygen levels, but preterm birth exposes infants to high oxygen, which can harm organ development and lead to conditions like necrotizing enterocolitis.
- The study investigates the role of the β3-adrenoreceptor (β3-AR) in protecting the ileum from damage caused by high oxygen levels in newborn rat pups, using a selective β3-AR agonist, BRL37344.
- Results show that a 3 mg/kg dose of BRL37344 mitigates some harmful changes caused by hyperoxia, highlighting its potential as a therapeutic approach for addressing complications related to premature birth and excessive oxygen exposure.
Article Synopsis
- The study aimed to analyze self-care behaviors and self-care self-efficacy in Marfan syndrome patients while identifying factors influencing these behaviors.
- It found that while patients performed adequately in maintaining health and monitoring symptoms, their management of symptoms when they occur was lacking.
- The research emphasizes the need for improved educational programs to boost self-care management and self-efficacy in these patients, with recommendations for healthcare professionals to focus on targeted educational activities.
Article Synopsis
- Marfan syndrome (MFS) is a rare genetic disorder that affects connective tissue, leading to serious complications like thoracic aortic aneurysms (TAA), which may require preventive surgery.
- There is a need for non-invasive biomarkers and new therapeutic targets for MFS, as current monitoring methods involve complex imaging and are time-sensitive.
- Recent studies using high-throughput platforms have identified potential biomarkers and therapeutic targets related to pathways involved in MFS, but further validation in large patient groups is needed to confirm their effectiveness.
Article Synopsis
- The development of embryos and fetuses occurs in a low-oxygen environment regulated by factors like HIF-1 and β3-adrenergic receptors (β3-ARs), and issues related to prematurity may arise from reduced β3-AR function due to premature oxygen exposure.
- This research aims to study the relationship between oxygen levels and the expression of HIF-1, β3-ARs, and VEGF in preterm and full-term newborns by collecting and analyzing cord blood samples.
- The study has received ethical approval and involves enrolling 100 preterm and 100 full-term newborns to identify correlations between gene expression and clinical outcomes, potentially offering new insights for
Article Synopsis
- - Benralizumab effectively manages severe eosinophilic asthma (SEA), showing a significant 89% reduction in exacerbation rates and a 440 mL increase in forced expiratory volume (FEV) over 36 months in a study of 108 Italian patients.
- - The treatment led to notable improvements in asthma control and sinonasal symptoms for patients with chronic rhinosinusitis with nasal polyposis, with 84.31% achieving partial or complete clinical remission.
- - Results indicate benralizumab may act as a long-term disease-modifying drug for SEA, with most patients able to reduce or stop their oral corticosteroids, but further research is needed to evaluate its long-term safety and effectiveness.
Antimicrobial peptides (AMPs) are molecules with an amphipathic structure that enables them to interact with bacterial membranes. This interaction can lead to membrane crossing and disruption with pore formation, culminating in cell death. They are produced naturally in various organisms, including humans, animals, plants and microorganisms.
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- Congenital diaphragmatic hernia (CDH) is a birth defect with different types, including Bochdalek and Morgagni hernias, and can occur in conditions like Marfan syndrome (MFS), which affects connective tissue.
- A child with recurrent respiratory infections was found to have a Morgagni hernia via chest X-ray, leading to ongoing medical evaluations that confirmed a diagnosis of MFS with a mutation in the FBN1 gene.
- The case emphasizes the need for continuous multidisciplinary monitoring for children diagnosed with CDH to identify and manage potential complications, such as cardiovascular issues related to MFS.
Background: Pathogenic variants of PCDH19, located on the X-chromosome (Xq22.1), cause a rare epileptic encephalopathy with speech and development delay, seizures, behavioral and psychiatric problems. The specific underlying pathogenic mechanism is known as "cellular interference" that results in affected heterozygous females, normal hemizygous males and affected mosaic males but its functioning is not yet clear.
View Article and Find Full Text PDFIntroduction/aims: MScanFit MUNE (MScanFit) is a novel tool to derive motor unit number estimates (MUNEs) from compound muscle action potential (CMAP) scans. Few studies have explored its utility in 5q spinal muscular atrophy (SMA5q) patients, assessing only the abductor pollicis brevis (APB) muscle. We aimed to assess different distal muscles in pediatric and adult SMA5q patients, further evaluating clinical-electrophysiological correlations.
View Article and Find Full Text PDFObjectives: Although respiratory failure is the most common feature in coronavirus disease 2019 (COVID-19), abdominal organ involvement is likewise frequently observed. To investigate visceral and thoracic circulation and abdominal organ damage in COVID-19 patients.
Materials And Methods: A monocentric observational study was carried on.
Article Synopsis
- SNURPORTIN-1 (SNUPN) is important for transporting proteins in the cell but its exact job wasn’t known before.
- Researchers studied 18 kids with a rare type of muscular dystrophy and found that changes in the SNUPN gene might be causing their health issues.
- The study showed that the faulty SNUPN protein doesn't work properly, leading to problems in muscle cells and causing symptoms of muscular dystrophy in these kids.