Publications by authors named "Muda A"

Article Synopsis
  • Large studies and specific electrophysiology techniques have helped identify various SCN2A-epilepsy phenotypes, their genetic connections, and their reactions to sodium channel blockers.
  • One notable presentation of SCN2A variants is benign familial neonatal-infantile seizures (BFNIS), which typically occur within the first 23 months of life and often resolve within two years, sometimes with treatment.
  • A recent case highlights a woman, originally diagnosed with BFNIS in infancy, who experienced additional seizures over 40 years later, suggesting SCN2A-related seizures may have implications in adulthood.
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Purpose: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology.

Methods: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset.

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Background: Respiratory syncytial virus (RSV) infection in children under 5 years have a significant clinical burden, also in primary care settings. This study investigates the epidemiology and burden of RSV in Italian children during the 2019/20 pre-pandemic winter season.

Methods: A prospective cohort study was conducted in two Italian regions.

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Background: Nephritis is a common manifestation of IgA vasculitis and is morphologically indistinguishable from IgA nephropathy. While MEST-C scores are predictive of kidney outcomes in IgA nephropathy, their value in IgA vasculitis nephritis has not been investigated in large multiethnic cohorts.

Methods: Biopsies from 262 children and 99 adults with IgA vasculitis nephritis ( N =361) from 23 centers in North America, Europe, and Asia were independently scored by three pathologists.

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Introduction: Diffusion-weighted imaging (DWI) in magnetic resonance imaging (MRI) has been proposed as the first line of neuroimaging for acute ischaemic stroke. The reliability of DWI in detecting intracranial haemorrhage, however, is still unproven, compared with susceptibility-weighted imaging (SWI) and CT scan which being considered the gold standard. This study seeks to establish the reliability of DWI as a first-line imaging modality to detect the intracranial haemorrhage in the patients present within the thrombolysis window.

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Background: Pancreatic Stone Protein (PSP) is one of the most promising diagnostic and prognostic markers. The aim of the study was to assess the accuracy of PSP, compared to C-Reactive Protein (CRP), and Procalcitonin (PCT) for sepsis diagnosis in pediatric patients. Furthermore, we explored the correlation of PSP levels with sepsis severity and organ failure measured with PELOD-2 score.

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Article Synopsis
  • SCN2A gene mutations can lead to conditions like epilepsy, developmental delays, and autism, with previous studies in Denmark showing a prevalence of about 0.0012% in live births.
  • A study in Brescia, Italy, from 2002 to 2021 found a higher frequency of SCN2A-related disorders at 0.0047%, indicating a more significant presence of the pathogenic variant compared to Denmark's data.
  • Results showed that the incidence of the SCN2A variant in Brescia was approximately three to four times higher than in the Danish population, suggesting a need for further research on this genetic variant in Italy.
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PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.

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COVID-19 associated neurological syndromes, including acute ischemic stroke, pose a challenge to treating physicians. The role of MRI in aiding diagnosis and further management is indispensable. The advent of new MRI sequences such as vessel wall imaging (VWI) allows an avenue in which these patients could be better investigated and treated.

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In computational chemistry, the high-dimensional molecular descriptors contribute to the curse of dimensionality issue. Binary whale optimization algorithm (BWOA) is a recently proposed metaheuristic optimization algorithm that has been efficiently applied in feature selection. The main contribution of this paper is a new version of the nonlinear time-varying Sigmoid transfer function to improve the exploitation and exploration activities in the standard whale optimization algorithm (WOA).

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Purpose: Paediatric obesity is a well-known risk factor for metabolic-associated fatty liver disease (MAFLD). The aim of this study was to evaluate the effects of laparoscopic sleeve gastrectomy (LSG) on the levels of total homocysteine (tHcy) and total glutathione (tGSH) plasma levels in children with MAFLD.

Material And Methods: Twenty-four children with severe obesity who underwent LSG were included in the study.

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Amphetamine-type stimulants (ATS) drug analysis and identification are challenging and critical nowadays with the emergence production of new synthetic ATS drugs with sophisticated design compounds. In the present study, we proposed a one-dimensional convolutional neural network (1DCNN) model to perform ATS drug classification as an alternative method. We investigate as well as explore the classification behavior of 1DCNN with the utilization of the existing novel 3D molecular descriptors as ATS drugs representation to become the model input.

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Article Synopsis
  • * The composition and functionality of both airway and gut microbiomes can influence how pathogens grow and spread in the respiratory system, while also being affected by respiratory diseases.
  • * A systems medicine approach focusing on the respiratory and gut microbiomes could help identify the role of specific bacteria and viruses in the severity of respiratory diseases, leading to new insights for treatment and prevention.
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In December 2019, a novel coronavirus named SARS-CoV-2 started circulating in China and this led to a major epidemic in Northern Italy between February and May 2020. Young children (aged <5 years) seem to be less affected by this coronavirus disease (COVID-19) compared to adults, although there is very little information on the circulation of this new virus among children in Italy. We retrospectively tested nasopharyngeal swabs for SARS-CoV-2 in samples collected in young children between November, 2019 and March, 2020 in the context of the RSV ComNet study.

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Background Aims: Mesenchymal stromal cells (MSCs) are characterized by paracrine and immunomodulatory functions capable of changing the microenvironment of damaged brain tissue toward a more regenerative and less inflammatory milieu. The authors conducted a phase 2, single-center, assessor-blinded randomized controlled trial to investigate the safety and efficacy of intravenous autologous bone marrow-derived MSCs (BMMSCs) in patients with subacute middle cerebral artery (MCA) infarct.

Methods: Patients aged 30-75 years who had severe ischemic stroke (National Institutes of Health Stroke Scale [NIHSS] score of 10-35) involving the MCA territory were recruited within 2 months of stroke onset.

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Background: In Italy, the response to coronavirus disease 2019 (COVID-19) pandemic upgraded from social distancing on February 23, 2020, to national lockdown on March 11, 2020. We described how the pandemic affected a tertiary care children hospital with a dedicated COVID-19 regional center.

Methods: We analyzed the characteristics of emergency department (ED) visits, urgent hospitalizations and severe acute respiratory syndrome (SARS)-COV-2 reverse transcription-polymerase chain reaction testing, and COVID-19 patients across 3 response phases: before the first Italian case, before national lockdown and during lockdown.

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Study Objective: This study aimed to investigate the morbidity of laparoscopic myomectomy (LM) versus open myomectomy (OM), including intraoperative blood loss, duration of surgery, hospital stay, and complications and to evaluate the criteria for selection of cases suitable for LM.

Design: This was a retrospective study.

Setting: This study was conducted at tertiary hospital.

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Study Objective: The objective of the study was to evaluate the prevalence of interstitial ectopic pregnancy and to compare the surgical outcomes of laparoscopic cornuotomy (LC) and laparotomy (open) cornuotomy (OC) of cornual ectopic pregnancy and to analyze its associated factors.

Materials And Methods: A cross-sectional study was conducted involving cases of interstitial ectopic in Hospital Putrajaya, Putrajaya, Malaysia, over a 10-year period (2005-2014). Data on sociodemographic, clinical profile, perioperative, and postoperative were obtained from the electronic medical records.

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Studies of Irrawaddy dolphins' acoustics assist in understanding the behaviour of the species and thereby conservation of this species. Whistle signals emitted by Irrawaddy dolphin within the Bay of Brunei in Malaysian waters were characterized. A total of 199 whistles were analysed from seven sightings between January and April 2016.

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A 22 years-old-man was admitted to emergency after trauma. He suffered multiple deep cuts on his left leg. A lesion of the ischiatic nerve was suspected, and an ultrasound (US) evaluation was requested to confirm it.

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Objectives: In ultrasound (US) examinations of clinically relevant very small structures of the wrist and hand, the healthy contralateral side can be used as a reference to identify subtle abnormalities. Intraindividual side-to-side variability must be minimal. The aim of this study was to assess the reliability of side-to-side US evaluations of very small structures of the wrist and hand.

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Carotid-cavernous fistulas (CCFs) are vascular shunts between the carotid arterial system with direct drainage into the cerebral venous system, mainly to the cavernous sinus. Direct CCF is a well-recognised complication following head trauma. Classically in direct or traumatic CCF, vessel wall tear occurs at the cavernous segment of the internal carotid artery, between the fixed and free segment.

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