6,962 results match your criteria: "Children Hospital Bambino Gesù (IRCCS)[Affiliation]"

Islatravir (ISL) is a novel antiretroviral that inhibits HIV-1 reverse transcriptase translocation. The M184V mutation, known to reduce ISL's viral susceptibility in vitro, could arise from prolonged exposure to nucleoside reverse transcriptase inhibitors (NRTI) (3TC). This study evaluated the predictive efficacy of ISL and identified potentially active antiretrovirals in combination among treatment-experienced patients in Cameroon, where NRTIs (3TC) have been the backbone of ART for decades now.

View Article and Find Full Text PDF

Eosinophilic esophagitis is a chronic, antigen-driven, immune-mediated disease characterized by esophageal dysfunction and significant eosinophilic infiltration. Its rising incidence and prevalence over recent decades reflect both increased clinical awareness and the influence of environmental factors such as dietary patterns and allergen exposure. Among food allergens, cow's milk proteins are the most commonly implicated triggers, contributing to esophageal inflammation through complex immunological pathways involving both IgE-mediated and non-IgE-mediated mechanisms.

View Article and Find Full Text PDF

Pneumonia caused by infection (PCP) is a potentially life-threatening illness, particularly affecting the immunocompromised. The past two decades have shown an increase in PCP incidence; however, the underlying factors that promote disease severity and fatality have yet to be fully elucidated. Recent evidence suggests that the microbiota of the respiratory tract may play a role in stimulating or repressing pulmonary inflammation, as well as the progression of both bacterial and viral pneumonia.

View Article and Find Full Text PDF

Brain abscesses are invasive infections of the central nervous system with a high level of treatment complexity especially in pediatric patients. Here, we describe a 3-month-old infant with multiple brain abscesses caused by methicillin-susceptible (MSSA). The patient was initially treated with empirical antibiotics (ceftriaxone, metronidazole, vancomycin).

View Article and Find Full Text PDF

: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic variants could be responsible for Incontinentia Pigmenti (IP) in female carriers.

View Article and Find Full Text PDF

GH Therapy in Non-Growth Hormone-Deficient Children.

Children (Basel)

December 2024

Research Area for Innovative Therapy in Endocrinology, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.

Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, deficiency, Noonan syndrome, Prader-Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height.

View Article and Find Full Text PDF

MicroRNAs Expression Profile in MN1-Altered Astroblastoma.

Biomedicines

January 2025

Department of Radiological, Oncological and Anatomo-Pathological Sciences, University Sapienza of Rome, 00161 Rome, Italy.

Background/objectives: Astroblastoma is a rare glial neoplasm more frequent in young female patients, with unclear clinical behaviors and outcomes. The diagnostic molecular alteration is a rearrangement of the Meningioma 1 () gene. MicroRNAs (miRNAs) are important gene expression regulators with strong implications in biological processes.

View Article and Find Full Text PDF

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS.

View Article and Find Full Text PDF

Background: The integration of digital health technologies has transformed mental healthcare, particularly for young adults with First-Episode Psychosis (FEP). Digital interventions, such as telepsychiatry and mobile applications, address barriers like social stigma, restricted access to services, and the urgency of timely care.

Methods: A systematic literature review was conducted using PubMed and APA PsycINFO.

View Article and Find Full Text PDF

Background: Recent proteomic studies have documented that Long COVID in adults is characterized by a pro-inflammatory signature with thromboinflammation. However, if similar events happen also in children with Long COVID has never been investigated.

Methods: We performed an extensive protein analysis of blood plasma from pediatric patients younger than 19 years of age Long COVID and a control group of children with acute COVID-19, MIS-C, and healthy controls resulted similar for sex distribution and age.

View Article and Find Full Text PDF

Background: This observational study investigates the efficacy of combining local muscle vibration (LMV) therapy and kinesiotaping using the McConnell method (KMcCM) in patients with patellofemoral pain syndrome (PFPS). PFPS is a prevalent knee condition characterized by anterior or medial knee pain exacerbated by activities that overload the patellofemoral joint.

Objective: The primary aim of this study was to evaluate the effectiveness of LMV combined with KMcCM in reducing pain and improving function in PFPS patients.

View Article and Find Full Text PDF

Identification of an immunological signature of long COVID syndrome.

Front Immunol

January 2025

Neuroimmunology Unit, Santa Lucia Foundation IRCCS, Rome, Italy.

Introduction: Acute COVID-19 infection causes significant alterations in the innate and adaptive immune systems. While most individuals recover naturally, some develop long COVID (LC) syndrome, marked by persistent or new symptoms weeks to months after SARS-CoV-2 infection. Despite its prevalence, there are no clinical tests to distinguish LC patients from those fully recovered.

View Article and Find Full Text PDF

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Nephrol Dial Transplant

January 2025

Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KUL, Leuven, Belgium.

Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.

View Article and Find Full Text PDF

Immunophenotype of uterine tumor resembling ovarian sex cord tumor (UTROSCT): Case series and meta-analysis of the literature.

Pathol Res Pract

January 2025

Unità Operativa Complessa Anatomia Patologica Generale, Dipartimento di scienze della salute della donna, del bambino e di sanità pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Rome, Italy.

Objectives: This study aimed to define the frequency of positivity of several immunohistochemical markers in uterine tumor resembling ovarian sex cord tumor (UTROSCT).

Methods: All consecutive UTROSCT cases were retrieved from consultation files of one of the authors. Histological and immunohistochemical slides were reviewed.

View Article and Find Full Text PDF

Background: Congenital biliary dilatation (CBD) is a congenital malformation of the main biliary tract usually associated with the pancreatobiliary maljunction (PBM), determining stone formation, cholangitis, pancreatitis, and cholangiocarcinoma. The role of endoscopic retrograde cholangiopancreatography (ERCP) in treatment and diagnosis has not been established yet. Therefore, the aim of our study is to define the actual role of ERCP in children with CBD.

View Article and Find Full Text PDF

Protocadherin 19 (PCDH19) is an adhesion molecule involved in cell-cell interaction whose mutations cause a drug-resistant form of epilepsy, named PCDH19-Clustering Epilepsy (PCDH19-CE, MIM 300088). The mechanism by which altered PCDH19 function drive pathogenesis is not yet fully understood. Our previous work showed that PCDH19 dysfunction is associated with altered orientation of the mitotic spindle and accelerated neurogenesis, suggesting a contribution of altered cytoskeleton organization in PCDH19-CE pathogenesis in the control of cell division and differentiation.

View Article and Find Full Text PDF

Impact of Platelet Transfusion at Different Doses in Oncohematology Pediatric Inpatients and Outpatients: A Retrospective Study.

Pediatr Blood Cancer

January 2025

Transfusion Medicine and Cellular Therapy Unit, Policlinico Campus Bio-Medico Foundation, Rome, Italy.

Background: Platelet (PLT) transfusion is an essential strategy to prevent bleeding in children with thrombocytopenia associated to cancer treatment. However, data on optimal pediatric dosing and transfusion thresholds are limited.

Methods: This retrospective study analyzed data from 607 pediatric patients with hematologic malignancies, nonmalignant disorders, and solid tumors who developed hypoproliferative thrombocytopenia during therapy.

View Article and Find Full Text PDF

Background: In recent months, Bordetella pertussis has reappeared after maintaining a low rate for many years. Although pertussis is usually characterized by a favorable course, several factors can contribute to the severity of the disease, such as mixed respiratory infections. In this study, we evaluate B.

View Article and Find Full Text PDF

The impact of anti-Spike monoclonal antibody (mAbs) treatment on the immune response of COVID19-patients is poorly explored. In particular, a comparison of the immunological influence of different therapeutic regimens has not yet been performed. Aim of the study was to compare the kinetic of innate and adaptive immune response as well as the SARS-CoV-2 specific humoral and T cell response in two groups of SARS-CoV-2-infected patients treated with two different mAbs regimens: Bamlanivimab/Etesevimab (BAM/ETE) or Casirivimab/Imdevimab (CAS/IMD).

View Article and Find Full Text PDF

Purpose: Adolescent idiopathic scoliosis surgery (AIS) is often associated with high costs and significant recovery challenges. Enhanced recovery after surgery (ERAS) protocols aim to improve outcomes, reducing hospital stays and complications compared to traditional (TD) pathways. This study evaluates the impact of ERAS protocols on AIS treatment.

View Article and Find Full Text PDF

Proposed resources required for a comprehensive program for CCT CHD imaging.

J Cardiovasc Comput Tomogr

January 2025

Royal Brompton Hospital, London, England, USA; School of Biomedical Engineering and Imaging Sciences, King's College, London, USA. Electronic address:

Background: Cardiac Computed Tomography (CCT) is increasingly used for evaluation of congenital heart disease (CHD) in patients of all ages. Pediatric and adult congenital heart disease (ACHD) surgical programs require high quality CCT imaging as part of the multimodality imaging support expected of comprehensive care centers. Despite these expectations, there are no benchmarks or defined programmatic elements specific to the performance of CCT in patients with CHD.

View Article and Find Full Text PDF

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

View Article and Find Full Text PDF

The Innate Lymphoid Cells (ILCs) are a family of innate immune cells composed by the Natural Killer (NK) cells and the helper ILCs (hILCs) (ILC1, ILC2, ILC3), both developing from a common ILC precursor (ILCP) derived from hematopoietic stem cells (HSCs). A correct ILC reconstitution is crucial, particularly in patients receiving HSC transplantation (HSCT), the only therapeutic option for many adult and pediatric high-risk hematological malignancies. Indeed, mainly thanks to their cytotoxic activity, NK cells have a strong Graft-versus-Leukemia (GvL) effect.

View Article and Find Full Text PDF

Modified lung ultrasound score for improved monitoring of pARDS on ECMO, a case report.

BMC Pediatr

January 2025

Division of Neonatology, Pediatric Intensive Care & Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.

Background: Lung ultrasound scoring is a validated tool for assessing lung pathology. However, existing scoring systems typically overlook the size of consolidations, limiting their accuracy in certain clinical scenarios.

Case Presentation: We describe the first application of adding the maximum consolidation depth in centimeters (cm) to the conventional score.

View Article and Find Full Text PDF