The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.

Primary immune regulatory disorders (PIRDs) are an increasing indication for hematopoietic stem cell transplant (HCT) in pediatric patients. Here, we provide an updated overview of HCT for PIRDs, and discuss future avenues for improvement in outcomes.

To provide a comprehensive resource for pediatric surgeons and pediatricians caring for patients with Mullerian and vaginal anomalies, with a focus on recent changes in practice.

A growing number of gene therapies are getting FDA-approved for pediatric rare disorders to treat once incurable diseases. Opportunities for preventing lifetime illness and improving quality of life for these patients is now becoming a reality. Challenges exist in navigating the complexities of determining which patients will benefit from these new gene therapies and how to effectively deliver them as a standard of care.

The national workforce shortage in genetics is being evaluated in order to identify a sustainable solution to the increasing demand for genomic services. An innovative solution to the short term needs is to integrate advanced practice providers (APPs) and embed genetic counselors into both outpatient and inpatient specialty care. Incorporating APPs into a genetic service is not unique in itself, but the method of implementation at Medical College of Wisconsin (MCW) was, at the time, unchartered.

Allogeneic hematopoietic cell transplantation (HCT) is a curative option for many for inborn errors of immunity (IEI). This review highlights recent progress in the field of HCT for IEI.

Critically ill children are at risk of neurologic dysfunction and acquiring primary and secondary brain injury. Close monitoring of cerebral function is crucial to prevent, detect, and treat these complications.

To highlight the clinical presentation, diagnostic approach, and management of acquired inflammatory demyelinating syndromes in children.

This review aims to provide an overview of the current understanding of eosinophilic gastrointestinal disorders (EGIDs) and the role of the epithelium in influencing disease pathogenesis to inform and devise future therapeutic strategies.

To provide an update on advancements in pediatric headache.

Provide an overview of recent findings and recommendations for the presentation, diagnosis, and management of pediatric dermatologic emergencies.

The growth of rich electronic health record (EHR) data and large health databases has introduced new opportunities to link individuals together into households and relational networks. These 'linked relational networks' hold promise for providing family-level care and studying intergenerational epidemiology and clinical outcomes. However, as linked relational networks become more commonly available in EHRs and research databases, it is critical to understand their challenges and limitations.

New social risk screening standards and quality metrics reward or penalize healthcare delivery organizations for social risk screening. After summarizing the recent literature on social risk screening in pediatric healthcare settings we consider how this evidence - and persistent evidence gaps - might inform future standards development.

To summarize the impact of financial hardship on children whose parents have been incarcerated, describe both existing cash transfer and guaranteed income programs, and highlight their impact on child and family well being.

Speckle tracking echocardiography (STE)-derived measures of myocardial mechanics, referred to herewithin as strain measurements, directly assess myocardial contractility and provide a nuanced assessment of ventricular function. This review provides an overview of strain measurements and their current clinical value and utility in decision making in pediatric cardiology.

Dupilumab is an emerging medication that has shown efficacy for multiple atopic conditions. This review provides insight into the common conditions that are treated, mechanism of action, and continued innovation with the medication.

Pediatric obesity is a growing epidemic. Lifestyle modifications remain central to obesity treatment, however pharmacologic options have gained traction, particularly glucagon-like peptide-1 receptor agonists (GLP-1RA). This review aims to summarize evidence on the use of GLP-1RAs in the management of pediatric obesity, physiological mechanisms of action of GLP-1RAs and their role in appetite regulation and glucose homeostasis and address the challenges and special considerations surrounding GLP-1RA use.

Differences of sex development (DSD) are a group of chromosomal, gonadal, and anatomic conditions that are not often diagnosed during pregnancy. Families and clinicians need diagnostic guidance that supports all aspects of the care from the prenatal to postnatal period.

Describe why this review is timely and relevant.Undescended testis, or cryptorchidism, is a common diagnosis encountered by pediatricians that requires timely collaboration with pediatric surgical specialists to optimize outcomes for these patients. As this topic continues to be heavily researched, it is imperative to understand current recommendations and emerging management options including new surgical techniques, as well as common pitfalls in care highlighted in the literature.