2,439 results match your criteria: "Institute for Maternal and Child Health "IRCCS Burlo Garofolo"[Affiliation]"

Article Synopsis
  • The study investigates the effects of stopping TNF inhibitors (TNFi) in children with juvenile idiopathic arthritis (JIA) who show persistent disease inactivity and identifies factors related to relapse.
  • A multicentric analysis of medical records from 136 JIA patients who discontinued TNFi treatment revealed that 79.4% experienced a relapse within a median of 5 months after stopping therapy.
  • Key predictors for relapse include younger age at onset, presence of uveitis, duration of treatment tapering, and not having persistent oligoarticular JIA.
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Controlled ovarian stimulation leads to cardiovascular changes in patients undergoing in vitro fertilization.

Eur J Obstet Gynecol Reprod Biol

September 2024

Department of Neurosciences, Reproductive Science and Dentistry, University Federico II, Via Pansini 5, 80131 Naples, Italy. Electronic address:

Article Synopsis
  • The study aimed to analyze changes in hemodynamics (blood flow and heart function) during controlled ovarian stimulation in women undergoing in vitro fertilization at a hospital in Naples, Italy.
  • It included 68 infertile patients and assessed their cardiovascular parameters at three key time points: baseline, estradiol peak, and embryo transfer day.
  • The results indicated significant changes in cardiac output and stroke volume index at these time points, highlighting the impact of ovarian stimulation on maternal cardiovascular health, particularly in patients at risk of hyperstimulation.
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Hemispherotomy is an effective disconnection technique for the treatment of different forms of drug-resistant epilepsy due to encephalopathies with unilateral hemispheric involvement.1-8 We describe the case of a 6-year-old child affected by Rasmussen encephalitis who underwent right vertical parasagittal hemispherotomy.9 The goal of the procedure was to isolate the basal ganglia region by interrupting the interhemispheric and intrahemispheric white matter connectivity.

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Background: Cortical visual impairment (CVI) is a verifiable visual dysfunction that cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. Given the limited knowledge on the most effective interventions for visual impairment resulting from CVI, this case report provides valuable insights into an example of successful implementation of anti-amblyopia therapy in a patient with CVI.

Case Presentation: This case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing.

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Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Nat Genet

July 2024

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.

Article Synopsis
  • Scientists looked at the timing of when girls start their periods (called menarche) and how it can affect their health later in life.
  • They studied about 800,000 women and found over a thousand genetic signals that influence when menstruation starts.
  • Some women have a much higher chance of starting their periods too early or too late based on their genetic makeup, suggesting that genes play a big role in this process!
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Unlabelled: The number of children eligible for Paediatric Palliative Care has dramatically increased over the years, with few tools that can help with early identification. The Paediatric Palliative Screening Scale is a dedicated German, English, and Portuguese screening tool. We aimed to translate and perform a cultural adaptation to the Italian setting of the Paediatric Palliative Screening Scale.

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Objectives: Inflammatory markers such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are poorly informative about interferon (IFN)-related disorders. In these conditions, the measure of the interferon score (IS), obtained by measuring the expression of IFN-stimulated genes, has been proposed. Flow cytometry-based assays measuring sialic-acid-binding Ig-like lectin 1 (Siglec-1) expression could be a more practical tool for evaluating IFN-inflammation.

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The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, and a gadolinium-enhanced MRI. A repeated imaging investigation revealed the presence of a mass that mimicked a vestibular schwannoma (VS), but despite this, the boy was ultimately diagnosed with cerebral manifestations of B-cell acute lymphoblastic leukemia (B-ALL).

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Chronic school absenteeism is a common problem in childhood and adolescence, and it is frequently observed in patients with somatic symptom and related disorders (SSRDs). This study aimed to determine whether and to what extent the presence of school absenteeism may be a risk factor for the diagnosis of SSRDs in hospitalised patients. This matched cohort study included children and adolescents aged between 8 and 17 years, admitted to the paediatric ward of the IRCCS Burlo Garofolo in Trieste from 2021 to 2023, who were divided into two groups, the first including children with at least 15 days of absence from school for medical reasons and the second including children with regular school attendance, matched to the former group by age and sex.

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Inflammatory bowel disease (IBD) is a morbid condition characterized by relapsing-remitting inflammation of the colon, accompanied by persistent gut dysmotility and abdominal pain. Different reports demonstrated biological activities of aged black garlic (ABG), including anti-inflammatory and antioxidant effects. We aimed to investigate beneficial effects exerted by ABGE on colon inflammation by using ex vivo and in vivo experimental models.

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The toxicologist ascertains drug assumptions in case of paediatric intoxications and death for overdose. The analytical approach consists of initially screening and consequently confirming drug positivity. We developed a toxicological screening method and validated its use comparing the results with a LC-MS/MS analysis.

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The optimal management of hemorrhagic cystitis (HC) in hematopoietic stem cell transplantation (HCT) is debated, both for early onset HC (EOHC) secondary to chemotherapy toxicity and BK Polyomavirus (BKPyV)-related HC, due to the lack of controlled trials, particularly referred to pediatric setting. Actually, clinical practice is mainly based on guidelines of the European Conference on Infections in Leukemia, 6 edition, which considers both adult and pediatric populations but concludes that, despite much progress in understanding the pathogenesis, epidemiology, and risk factors, this complication still represents a disabling unmet clinical need with limited prophylactic and therapeutic options. Additionally, the Guidelines of the American Society of Clinical Oncology define the management of chemotherapeutic toxicity independently from the patients' population.

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Objective: Acute appendicitis is a wide spectrum disease, from simple inflammation to evident intestinal perforation. The correct interpretation of the degree of inflammation is crucial to guarantee appropriate treatment and adherence to protocols and guidelines. In order to investigate this concordance, the authors compared the definition of appendicitis and the predicted treatment among all surgeons affiliated to a single Pediatric Surgery School (consisting of 8 different centers).

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Developing a sense of internal safety and security depends mainly on others: numerous neuromodulators play a significant role in the homeostatic process, regulating the importance of proximity to a caregiver and experiencing feelings that enable us to regulate our interdependence with our conspecifics since birth. This array of neurofunctional structures have been called the SEPARATION DISTRESS system (now more commonly known as the PANIC/ GRIEF system). This emotional system is mainly involved in the production of depressive symptoms.

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Article Synopsis
  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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Fiber-type prebiotics and gynecological and breast cancers risk: the PrebiotiCa study.

Am J Epidemiol

December 2024

Department of Clinical Sciences and Community Health, University of Milan, Dipartimento di Eccellenza 2023-2027, Milan, Italy.

Prebiotics may influence the risk of hormone-related female cancers by modulating the gut microbiota involved in estrogen metabolism. We evaluated the association of fiber-type prebiotic intake with breast, endometrial, and ovarian cancers. Data derived from a network of Italian hospital-based case-control studies (1991-2006), including 2560 cases of cancer of the breast (n = 2588 control participants), 454 of the endometrium (n = 908 control participants), and 1031 of the ovary (n = 2411 control participants).

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Limosilactobacillus fermentum strains MC1 and D12: Functional properties and exopolysaccharides characterization.

Int J Biol Macromol

July 2024

Laboratory for Antibiotic, Enzyme, Probiotic and Starter Cultures Technology, Department of Biochemical Engineering, University of Zagreb Faculty of Food Technology and Biotechnology, Pierottijeva 6, 10000 Zagreb, Croatia.

Lactic acid bacteria (LAB) produce a broad spectrum of exopolysaccharides (EPSs), commonly used as texturizers in food products. Due to their potential contribution to LAB probiotic properties, like adhesion to human epithelial cells and competitive exclusion of pathogens from human intestinal epithelial cells, this study was focussed on the structural and functional characterization of the EPSs produced by two Limosilactobacillus fermentum strains - MC1, originating from mother's milk, and D12, autochthonous from Croatian smoked fresh cheese. Whole-genome sequencing and functional annotation of both L.

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: Endometriosis is a female chronic inflammatory disease in which endometrial tissue develops outside the uterine cavity. It is a complex pathology, which significantly contributes to morbidity in premenopausal women, leading to chronic pain, infertility, and subfertility negatively impacting physical and emotional well-being and the overall quality of life. The public health burden of endometriosis remains elusive and challenging to determine, and this uncertainty can lead to inadequate healthcare services and treatments.

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Article Synopsis
  • - Acquired aplastic anemia (AA) is a rare condition involving low blood cell counts and underdeveloped bone marrow, affecting 2-3 people per million in Western countries and more in East Asia.
  • - Treatments for severe aplastic anemia (SAA) have improved significantly, with hematopoietic stem cell transplantation (HSCT) from a matched sibling donor considered the best first-line approach, although alternatives exist if a sibling donor isn't available.
  • - A guideline developed by pediatric hematologists aims to assist healthcare professionals in diagnosing and managing AA in children, based on evidence gathered and discussions held during consensus conferences, including adaptations made due to the COVID-19 pandemic.
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Schwannomas are benign, slow-growing tumors originating from the Schwann cells of nerve sheaths. Extracranial schwannomas are rare, particularly in pediatric populations. Here, we report the case of a hypoglossal schwannoma in a 15-year-old male who experienced tongue paresthesia and fasciculations and difficulty swallowing two years before hospital admission.

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Objectives: The aim of the study was to establish an international multicenter registry to collect data on patients with Multisystem Inflammatory Syndrome in Children (MIS-C), in order to highlight a relationship between clinical presentation, age of onset and geographical distribution on the clinical outcome.

Study Design: Multicenter retrospective study involving different international societies for rare immunological disorders.1009 patients diagnosed with MIS-C between March and September 2022, from 48 centers and 22 countries were collected.

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International consensus on sleep problems in pediatric palliative care: Paving the way.

Sleep Med

July 2024

Pediatric Palliative Care, Pain Service, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.

Objective: Sleep problems constitute a common and heterogeneous complaint in pediatric palliative care (PPC), where they often contribute to disease morbidity and cause additional distress to children and adolescents and their families already facing the burden of life-threatening and life-limiting conditions. Despite the significant impact of sleep problems, clinical evidence is lacking. The application of general pediatric sleep recommendations appears insufficient to address the unique challenges of the PPC dimension in terms of disease variability, duration, comorbidities, complexity of needs, and particular features of sleep problems related to hospice care.

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