Challenges and strategies: treating spontaneous pneumothorax in massive pulmonary langerhans cell histiocytosis in children.

Objective: The objective of this study was to report two cases of successive multiple spontaneous bilateral pneumothorax in children with massive lung involvement due to Langerhans cell histiocytosis (LCH), emphasizing the possibility of this differential diagnosis for the general pediatrician. Additionally, published cases describing pediatric patients with pulmonary manifestations of LCH were reviewed in the literature.

Case Description: Case #1: A 3-year-old male patient with a sudden episode of spontaneous right-sided pneumothorax, surgically drained.

Case Report: Aplastic anemia related to a novel variant.

A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia.

Introduction: Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whether transcriptomic profiling of peripheral blood mononuclear cells (PBMCs) defines subsets of individuals with A-T beyond mild and classic phenotypes, enabling identification of novel features for disease classification and treatment response to therapy.

Methods: Participants with classic A-T (n = 77), mild A-T (n = 13), and unaffected controls (n = 15) were recruited from two outpatient clinics.

Comparison between whole-body magnetic resonance imaging and whole-body metaiodobenzylguanidine scintigraphy in the evaluation of primary tumor and metastases in neuroblastoma.

Background: Whole-body metaiodobenzylguanidine ( I-MIBG) scintigraphy is the gold standard method to detect neuroblastoma; however, it depends on radioactive material and is expensive. In contrast, whole-body magnetic resonance imaging (WB-MRI) is affordable in developing countries and has been shown to be effective in the evaluation of solid tumors. This study aimed to compare the sensitivity and specificity of WB-MRI with MIBG in the detection of primary tumors and neuroblastoma metastases.

Diffusion-weighted imaging in pediatric extracranial germ cell tumors.

Background: Germ cell tumors (GCTs) comprise a rare and heterogeneous group of neoplasms presenting different clinical and histological characteristics, leading to a challenging scenario in clinical practice. Diffusion-weighted imaging (DWI) has been suggested as an indirect marker of tumor density and cellularity and could be used to monitor therapeutic response. However, its role in pediatric GCTs needs to be clarified.

Surgery in Bilateral Wilms Tumor-A Single-Center Experience.

The treatment of bilateral Wilms tumors (BWT) involves curing the cancer, preserving long-term renal function, and maintaining a good quality of life. Established methods for achieving these goals include preoperative chemotherapy and nephron-sparing surgery (NSS). This study aimed to evaluate the experience of a single institution in treating patients with BWT.

MRI Findings of Desmoplastic Infantile Ganglioglioma: A Case Report and Analysis.

Desmoplastic infantile gangliogliomas (DIG) are rare intracranial tumors that predominantly affect children. They are characterized by a mixture of glial and neuronal components interspersed with abundant fibrous stroma and are typically located on the surface of the cerebral hemispheres. In this case report, we present a seven-year-old male child with a late presentation of DIG, which is typically diagnosed between zero and 60 months of age.

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.

Introduction: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degeneration, ocular telangiectasias, and sinopulmonary disease. Since there is no cure for A-T, the standard of care is primarily supportive.

Areas Covered: We review clinical trials available in PubMed from 1990 to 2023 focused on lessening A-T disease burden.

Whole-Body MRI in Musculoskeletal Oncology: A Comprehensive Review with Recommendations.

Whole-body (WB) MRI has emerged as an attractive method for oncologic evaluation, potentially replacing conventional imaging modalities and providing a one-step wide-coverage assessment of both the skeleton and soft tissues. In addition to providing anatomic information, WB MRI may also yield a functional analysis with the inclusion of diffusion-weighted imaging (DWI). DWI translates microstructural changes, resulting in an excellent alternative to fluorodeoxyglucose PET/CT.

Similarities and controversies in imaging of pediatric renal tumors: A SIOP-RTSG and COG collaboration.

Malignant renal tumors are rare in children, and Wilms tumors (WTs) are the most common subtype. Imaging plays an essential role in the diagnosis, staging, and follow-up of these patients. Initial workup for staging is mainly performed by cross-sectional imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI).

Combination Therapy With Casirivimab/Imdevimab and Remdesivir for Protracted SARS-CoV-2 Infection in B-cell-Depleted Patients.

Profoundly B-cell-depleted patients can have prolonged severe acute respiratory syndrome coronavirus 2 infections with evidence of active viral replication, due to inability to mount an adequate humoral response to clear the virus. We present 3 B-cell-depleted patients with prolonged coronavirus disease 2019 infection who were successfully treated with a combination of casirivimab/imdevimab and remdesivir.

Hyoid displacement patterns in healthy swallowing.

Objective: To describe the patterns of displacement of the hyoid bone in healthy individuals, considering their displacements during swallowing of different consistencies.

Methods: Two hundred one swallowing videofluoroscopy exams of 67 adult and elderly individuals without swallowing disorders were analyzed. Descriptive analysis was performed to identify and describe the patterns of displacement of the hyoid bone.

Management of Pediatric Tumors With Vascular Extension.

Pediatric tumors can present with vascular extension to the inferior vena cava and right atrium, which impacts the surgical strategy and can be challenging during surgical treatment. Wilms tumor (WT) is the most common retroperitoneal tumor that can present with vascular extension, but also adrenal tumors, clear cell tumors from the kidney, and hepatoblastomas can present with this situation. Surgical aims include obtaining complete tumor resection without risk for patients, to avoid severe bleeding, cardiac arrest, and embolization, and to avoid cardiac bypass if possible.

Pharmacokinetics of high-titer anti-SARS-CoV-2 human convalescent plasma in high-risk children.

BACKGROUNDWhile most children who contract COVID-19 experience mild disease, high-risk children with underlying conditions may develop severe disease, requiring interventions. Kinetics of antibodies transferred via COVID-19 convalescent plasma early in disease have not been characterized.METHODSIn this study, high-risk children were prospectively enrolled to receive high-titer COVID-19 convalescent plasma (>1:320 anti-spike IgG; Euroimmun).

Diagnostic Errors in Wilms' Tumors: Learning From Our Mistakes.

This study aimed to analyze clinical characteristics and image findings in patients initially diagnosed with renal masses and treated on the Société Internationale d'Oncologie Pédiatrique (SIOP) 2001 protocol for Wilms tumor (WT) that eventually were diagnosed with different pathologies. We reviewed the preoperative symptoms, laboratory tests, and images of patients who were initially treated for WT and proved to have other diagnoses. Data from these patients were compared to those of the last 10 patients with WT and the last 10 patients with neuroblastoma (NBL) treated at a single institution.

MRI Characteristics of Pediatric Renal Tumors: A SIOP-RTSG Radiology Panel Delphi Study.

Background: The SIOP-Renal Tumor Study Group (RTSG) does not advocate invasive procedures to determine histology before the start of therapy. This may induce misdiagnosis-based treatment initiation, but only for a relatively small percentage of approximately 10% of non-Wilms tumors (non-WTs). MRI could be useful for reducing misdiagnosis, but there is no global consensus on differentiating characteristics.

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives.

Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated () gene. In the absence of a family history, the diagnosis of A-T is usually not made until the child is older and symptomatic. Classic A-T is characterized by a constellation of clinical symptoms including progressive ataxia, oculocutaneous telangiectasias and sinopulmonary disease and is usually associated with absence of ATM protein.

The Role of Whole-Body MRI in Pediatric Musculoskeletal Oncology: Current Concepts and Clinical Applications.

Whole-body magnetic resonance imaging (WB-MRI) has gained importance in the field of musculoskeletal oncology over the last decades, consisting in a one-stop imaging method that allows a wide coverage assessment of both bone and soft tissue involvement. WB-MRI is valuable for diagnosis, staging, and follow-up in many oncologic diseases and is especially advantageous for the pediatric population since it avoids redundant examinations and exposure to ionizing radiation in patients who often undergo long-term surveillance. Its clinical application has been studied in many pediatric neoplasms, such as cancer predisposition syndromes, Langerhans cell histiocytosis, lymphoma, sarcomas, and neuroblastoma.