Oversized cells activate global proteasome-mediated protein degradation to maintain cell size homeostasis.

Proliferating animal cells maintain a stable size distribution over generations despite fluctuations in cell growth and division size. Previously, we showed that cell size control involves both cell size checkpoints, which delay cell cycle progression in small cells, and size-dependent regulation of mass accumulation rates (Ginzberg et al., 2018).

Maternal Chronic Physical Conditions and Alcohol and Substance Use Disorders in the Preconception and Perinatal Periods.

Chronic physical conditions (CPC) and alcohol and substance use disorders (SUD) frequently co-occur, but this has not been examined perinatally. We explored the combined effects of CPC and prepregnancy SUD on perinatal SUD-related adverse events and outpatient care. This population-based study comprised 77,474 people with and 664,751 without CPC with a birth in Ontario, Canada, 2013-2020.

Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

Major ABO Incompatibility in Non-Myeloablative Hematopoietic Stem Cell Transplant for Sickle Cell Disease-Not an Insurmountable Obstacle.

With advances in conditioning strategies and graft-versus-host disease (GvHD) prevention, hematopoietic stem cell transplantation (HSCT) is a safe, curative treatment option for pediatric patients with sickle cell disease (SCD). However, donor options have been limited in non-myeloablative matched sibling donor (MSD) setting by excluding recipients with major ABO blood group incompatible donors due to concern of the risk of significant complications such as pure red cell aplasia (PRCA). We present three cases of successful HSCT with major ABO incompatibility with their donors, and discuss strategies to safely expand the donor pool to include these donors.

"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment-a review of 9 cases.

Objective: Biallelic RPE65 pathogenic variants may cause Leber congenital amaurosis (LCA). Voretigene neparvovec-rzyl (VN, Luxturna) is the only approved subretinal gene therapy that demonstrated benefit and safety. The eligibility criteria are vague and variable between centres.

Prenatal intervention for a large ureterocele in a male fetus causing lower urinary tract obstruction "Society of Fetal Urology Case Reports, Fall 2024".

A male fetus at 20 weeks of gestation presented with severe bilateral hydroureteronephrosis and distended bladder due to a large ureterocele. A percutaneous ureterocele puncture at 21+3 weeks aimed to decompress the ureterocele, unclog the lower urinary tract, and prevent renal damage. Post-puncture, the ureterocele decompressed, with improved left hydronephrosis and a normal right kidney.

Drivers of stunting and wasting across serial cross-sectional household surveys of children under 2 years of age in Pakistan: potential contribution of ecological factors.

Background: The impact of direct and indirect drivers on linear growth and wasting in young children is of public health interest. While the contributions of poverty, maternal education, empowerment and birth weight to early childhood growth are well recognized, the contribution of environmental factors like heat, precipitation, agriculture outputs and food security in comparable datasets is less well established.

Objectives: To investigate the association of length-for-age z-score (LAZ) and weight-for-length z-score (WLZ) with various indicators among children under 2 years of age in Pakistan using representative household level nutrition surveys and ecological datasets.

Maintenance treatment with vedolizumab in paediatric inflammatory bowel disease (VEDOKIDS): 54-week outcomes of a multicentre, prospective, cohort study.

Background: Infliximab and adalimumab are the only biologics thus far approved for paediatric patients with inflammatory bowel disease (IBD), so other biologics, such as vedolizumab, are prescribed off-label. Despite its frequent use, prospective data for vedolizumab treatment in children are available only for short-term induction outcomes. We aimed to evaluate the long-term efficacy and safety of maintenance therapy with vedolizumab in paediatric patients with IBD.

Predictive model of neurodevelopmental outcome in neonatal hypoxic ischemic encephalopathy.

Objectives: To build an early, prognostic model for adverse outcome in infants with hypoxic ischemic encephalopathy (HIE) receiving therapeutic hypothermia (TH) based on brain magnetic resonance images (MRI), electrophysiological tests and clinical assessments were performed during the first 5 days of life.

Methods: Retrospective study of 182 neonates with HIE and managed with TH. The predominant pattern of HIE brain injury on MRI performed following cooling was scored by neuroradiologists.

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

Introduction: 22q11 deletion syndrome (22q11DS) results from a microdeletion on chromosome 22 and is the most common microdeletion disorder in humans, affecting 1 in 2148 live births. Clinical manifestations vary widely among individuals and across different life stages. Effective management requires the involvement of a specialized multidisciplinary team.

Understanding the role of perfectionism in contributing to internalizing symptoms in youth with juvenile idiopathic arthritis.

Objective: Youth with juvenile idiopathic arthritis (JIA) experience elevated rates of internalizing symptoms, although more research is required to understand this phenomenon. Perfectionism, a multidimensional personality trait that involves dimensions such as striving for flawlessness (self-oriented perfectionism) and feeling that others demand perfection (socially-prescribed perfectionism), is a well-known risk factor for internalizing symptoms that has received minimal attention in pediatric populations. Preregistered hypotheses explored the relationships between youth and parent perfectionism and symptoms of depression and anxiety in youth with JIA, as mediated by (a) youth/parent negative self-evaluations and (b) youth self-concealment.

Paediatric renal tumours: an update on challenges and recent developments.

Paediatric renal tumours include a broad range of neoplasms which largely differ, but also overlap to a smaller extent, with adult kidney cancer. These include the embryonal tumour nephroblastoma, which accounts for the majority of cases of kidney cancer in the first decade of life and, despite boasting a cure in ~ 90% cases, still presents clinical challenges in a small proportion of cases. A variety of less common mesenchymal tumours, including the mostly indolent congenital mesoblastic nephroma, clear cell sarcoma of kidney which continues to be associated with poor outcomes for higher stage disease, and the typically lethal malignant rhabdoid tumour, form the bulk of the remaining presentations in the first decade.

Medicine availability and affordability for paediatric cancers, China.

Objective: To investigate access to essential anticancer medicines for children throughout China.

Methods: We obtained cross-sectional drug use data for 2021 from 55 tertiary children's hospitals in seven geographical regions (one third of public children's hospitals in mainland China). Affordability was assessed by comparing the single-day copayment for each medicine with the same generic name and route of administration (i.

Changing or validating physician opioid prescribing behaviors through audit and feedback and academic detailing interventions in primary care.

Background: In Ontario, Canada, province-wide initiatives supporting safer opioid prescribing in primary care include voluntary audit and feedback reports and academic detailing. In this process evaluation, we aimed to determine the fidelity of delivery and receipt of the interventions, the observed change strategies used by physicians, potential mechanisms of action, and how complementary the initiatives can be to each other.

Method: Semi-structured interviews were conducted with academic detailers and with physicians who received both interventions.

Pediatric cardiac surgical site infections: A single-center quality improvement initiative.

Objective: Pediatric cardiac surgery site infections (SSI) represent significant morbidity. Our institution reported elevated SSI rates of 3.48 per 100 cases over a 5-year period above target rates of 2.

Achieving excellence in paediatric cardiac care in resource limited and resource plentiful settings and building successful care networks across different countries.

Background: The delivery of paediatric cardiac care across the world occurs in settings with significant variability in available resources. Irrespective of the resources locally available, we must always strive to improve the quality of care we provide to our patients and simultaneously deliver such care in the most efficient and cost-effective manner. The development of cardiac networks is used widely to achieve these aims.

Prevention and Management of Infectious Complications in Pediatric Patients With Cancer: A Survey Assessment of Current Practices Across Children's Oncology Group Institutions.

Introduction: While clinical practice guidelines (CPGs) for pediatric oncology infection prophylaxis and management exist, few data describe actual management occurring at pediatric oncology centers.

Methods: An electronic survey querying infection management practices in nontransplant pediatric oncology patients was iteratively created by the Children's Oncology Group (COG) Cancer Control and Supportive Care Infectious Diseases Subcommittee and sent to leaders at all COG institutions, limiting each site to one response to represent their institution.

Results: The response rate was 57% (129/227 institutions).

Inborn errors of immunity (primary immunodeficiencies).

Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g.

Videolaryngoscopy in paediatrics: in search of the clinical evidence.

Despite the numerous recent trials, systematic reviews and meta-analyses have not conclusively shown superiority of videolaryngoscopy over other techniques for tracheal intubation of children. Clinical trials have shown significant differences using various outcome measures, but the overall clinical evidence remains weak. An international group of experts is currently working on developing good clinical research practice guidelines for paediatric airway management research, with the ultimate aim of identifying a core set of outcomes to be applied to develop future robust and comparable trials.

Neuromodulation Strategies in Lennox-Gastaut Syndrome: Practical Clinical Guidance from the Pediatric Epilepsy Research Consortium.

Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by multiple drug-resistant seizure types, cognitive impairment, and distinctive electroencephalographic patterns. Neuromodulation techniques, including vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS), have emerged as important treatment options for patients with LGS who do not respond adequately to antiseizure medications. This review, developed with input from the Pediatric Epilepsy Research Consortium (PERC) LGS Special Interest Group, provides practical guidance for clinicians on the use of these neuromodulation approaches in patients with LGS.

Patients' Use of e-Consultations as an Alternative to Other General Practitioner Services: Cross-Sectional Survey Study.

Background: e-Consultations, defined as asynchronous text-based messaging, have transformed how patients interact with their general practitioner (GP). While e-consultations can improve patient access to GP care, concerns about increased workload for GPs are raised.

Objective: This study aimed to address three research questions: (1) For what purpose and with what expectations do patients initiate e-consultations? (2) If e-consultations had not been available, what alternative actions would the patient have taken? and (3) How are the alternative actions associated with patient and e-consultation characteristics?

Methods: A cross-sectional study was conducted through a web-based survey on Helsenorge.

Health recommender systems to facilitate collaborative decision-making in chronic disease management: A scoping review.

Objective: Health recommender systems (HRSs) are increasingly used to complement existing clinical decision-making processes, but their use for chronic diseases remains underexplored. Recognizing the importance of collaborative decision making (CDM) and patient engagement in chronic disease treatment, this review explored how HRSs support patients in managing their illness.

Methods: A scoping review was conducted using the framework proposed by Arksey and O'Malley, advanced by Levac et al.