Epidemiology and clinical outcomes of childhood central nervous system cancers in a large low-middle income country pediatric oncology center: a report on 5051 kids.

Background: Central nervous system (CNS) tumors are the leading cause of cancer-related deaths in children. While most cases come from low-middle income countries (LMIC) where their prognosis is worse, few epidemiological studies are conducted in these regions.

Methods: We conducted a registry-based cohort study for childhood CNS tumors at Children's Cancer Hospital, Egypt (CCHE) over 15 years.

International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person.

Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.

Introduction: The National Registry of Rare Kidney Diseases (RaDaR) collects data from people living with rare kidney diseases across the UK, and is the world's largest, rare kidney disease registry. We present the clinical demographics and renal function of 25,880 prevalent patients and sought evidence of bias in recruitment to RaDaR.

Methods: RaDaR is linked with the UK Renal Registry (UKRR, with which all UK patients receiving kidney replacement therapy [KRT] are registered).

Residential radon decay products are associated with cough and phlegm in patients with COPD.

Radon decay products attach to particulate matter (referred to as particle radioactivity, PR) has been shown to be potential to promote airway damage after inhalation. In this study, we investigated associations between PR with respiratory symptoms and health-related quality of life (HRQL) in patients with COPD. 141 male patients with COPD, former smokers, completed the St.

Children picturing their own worlds: Using photovoice to amplify children's voice in sociological research.

This research note highlights an emerging transdisciplinary research method-photovoice-and why it is particularly suited for sociological studies of children and youth. Traditional social science data collection methods can be limited in their ability to capture both the depth and breadth of childhood experiences and children's perceptions of their experiences. We describe an emerging method, photovoice, that is used more frequently in other disciplines, and its suitability for sociologically studying youth and children.

High-grade glioma in infants and very young children: characteristics, treatment, and outcomes.

Purpose: High-grade gliomas in infants and very young children (less than 3 to 5 years old) pose significant challenges due to the limited scientific literature available and high risks associated with treatments. This study aims to investigate their characteristics, treatment, and outcomes.

Methods: A cohort study was conducted at Children's Cancer Hospital, Egypt.

Comparison of Bilateral Versus Unilateral 5 Hz or 1 Hz Repetitive Transcranial Magnetic Stimulation in Subacute Stroke: Assessment of Motor Function in a Randomized Controlled Study.

Purpose: Repetitive transcranial magnetic stimulation (rTMS) can enhance brain plasticity after stroke. At low frequencies, rTMS has an inhibitory effect, whereas at high frequencies, it has an excitatory effect. Combining both frequencies in bilateral stimulation is a new rTMS protocol under investigation, especially in the subacute stage.

Plasma miRNA expression profile in pediatric pineal pure germinomas.

Background: Pure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs (miRNA) have emerged as potential non-invasive biomarkers for germ cell tumors and may facilitate the non-invasive diagnosis of pure pineal germinomas.

Material And Methods: A retrospective chart review was performed on all patients treated at the Children's Cancer Hospital Egypt diagnosed with a pineal region tumor between June 2013 and March 2021 for whom a research blood sample was available.

Study protocol for a randomized controlled trial of the Parent-Child Assistance Program: a case management and home visiting program for people using substances during pregnancy.

Background: Perinatal substance use can have significant adverse effects on maternal and child health and family stability. Few interventions are specifically designed to address this significant public health problem. The Parent-Child Assistance Program (PCAP) is a 3-year case management and home-visiting intervention that seeks to help birthing persons with at-risk substance use during pregnancy to achieve and maintain substance use disorder recovery and avoid exposing future children to substances prenatally.

Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.

Background: Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure.

Methods: People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities.

Atypical teratoid rhabdoid tumor in a lower middle‑income country: Challenges to cure.

Atypical teratoid rhabdoid tumor (ATRT) is a rare type of potentially fatal childhood brain tumor. The present study aimed to examine the overall survival (OS) and event-free survival (EFS) outcomes of pediatric patients with ATRT and to analyze the impact of different prognostic factors, including age, sex, tumor site and size, metastatic disease, the extent of resection, radiotherapy, and chemotherapy, on survival. The present study included 47 patients with ATRT treated at the Children's Cancer Hospital of Egypt (Cairo, Egypt) between July 2007 and December 2017.

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant-A first report.

Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28 has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant.

Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.

Adult and paediatric patients with pathogenic variants in the gene encoding succinate dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or metastatic phaeochromocytomas and paragangliomas (PPGLs). Furthermore, SDHB PPGLs have the highest rates of disease-specific morbidity and mortality compared with other hereditary PPGLs. PPGLs with SDHB pathogenic variants are often less differentiated and do not produce substantial amounts of catecholamines (in some patients, they produce only dopamine) compared with other hereditary subtypes, which enables these tumours to grow subclinically for a long time.

When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis.

Objective: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs).

Method: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010-02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs.

Cost, Utilization, and Patient and Family Experience With ACO-Based Pediatric Care Management.

Background And Objectives: Children and Youth with Special Health Care Needs have high healthcare utilization, fragmented care, and unmet health needs. Accountable Care Organizations (ACOs) increasingly use pediatric care management to improve quality and reduce unnecessary utilization. We evaluated effects of pediatric care management on total medical expense (TME) and utilization; perceived quality of care coordination, unmet needs, and patient and family experience; and differential impact by payor, risk score, care manager discipline, and behavioral health diagnosis.

Paediatric research sets new standards for therapy in paediatric and adult cholestasis.

Children with Alagille syndrome and progressive familial intrahepatic cholestasis (PFIC) experience debilitating pruritus, for which there have been few effective treatment options. In the past 2 years, the ileal bile acid transporter (IBAT) inhibitors maralixibat and odevixibat have been approved for the management of cholestatic pruritus in these individuals, representing an important step forward in improving their quality of life. Emerging data suggest these drugs might also improve event-free survival, therefore potentially altering the typical disease course currently seen in these disorders.