Incidence of idiopathic syrinx in pediatric patients diagnosed with VACTERL association.

Objective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.

Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.

Focused on the Family: Development of a Family-Based Intervention Promoting the Transition to Adult Health Care for Adolescents with Type 1 Diabetes.

There is minimal evidence for current interventions promoting the transition to adult healthcare for youth with type 1 diabetes (T1D). Few interventions exclusively target modifiable individual and family-based factors that contribute to transition readiness. The purpose of this paper is to describe the development of Behavioral Family Systems Therapy for Diabetes Transition (BFST-DT), a virtual family-based transition readiness intervention for adolescents with T1D.

The disparity in pediatric spinal cord tumor clinical trials: A scoping review of registered clinical trials from 1989 to 2023.

Background: Spinal cord tumors (SCTs) comprise 10% of all central nervous system (CNS) tumors. Pediatric SCTs are often excluded and underrepresented in clinical trials though exclusion rates haven't been reported.

Methods: We reviewed all interventional clinical trials recruiting patients <21 years with SCTs on ClinicalTrials.

Intralesional epileptiform activity in a fourth ventricular hamartoma associated with epileptic hemifacial spasm in a toddler: illustrative case.

Background: Focal epilepsy caused by a posterior fossa lesion is a rare phenomenon. In these cases, seizure onset typically occurs during the first few months of life, with episodes of epileptic hemifacial spasms and abnormal eye movements. Patients often present with drug-resistant epilepsy and often require resection for the best chance of seizure freedom.

Culturally-informed neuropsychological evaluations of patients with spina bifida: Application of the ECLECTIC framework to a complex pediatric medical condition.

The pediatric patient populations in the United States are becoming increasingly diverse in culture. In addition to medical factors, a variety of sociocultural factors (including educational systems, language, immigration status, etc.) can impact a child's cognitive development, performance on traditional neuropsychological measures, provider interactions, differential diagnosis, and recommendations.

Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.

Purpose: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent.

Turner Syndrome With Y Chromosome and Germ Cells: A Case Report Highlighting the Need to Prioritize Individualized Care.

Turner syndrome (TS) is a genetic condition in phenotypic females in which the individual has 1 intact X chromosome and the second sex chromosome is absent or structurally altered Components of Y chromosome (eg, 45,X/46,XY) have been found in 5%-15% of patients with TS; these patients are often referred to as having "Turner syndrome with Y" (TS+Y). The presence of Y chromosome material increases risk for development of gonadal tumors. Historically, prophylactic gonadectomy has been recommended in this population to prevent malignancy, and patients were presumed infertile due to the presence of streak gonads with no germ cells (GCs).

Spinal catheter revision in pediatric intrathecal baclofen pumps: risk factors and postoperative outcomes.

Objective: Intrathecal baclofen (ITB) pumps are commonly used in pediatric patients with cerebral palsy (CP) and medically refractory spasticity. However, catheter malfunction and associated risk factors are not well understood. The aim of this study was to examine potential risk factors for spinal catheter malfunction and characterize postoperative follow-up to understand the clinical consequences.

Optic Nerve Edema in Pediatric Middle Cranial Fossa Arachnoid Cysts: Report of 51 Patients From a Single Institution.

Background: Middle fossa arachnoid cysts (MFACs) are rare, congenital lesions that may rupture and cause symptoms of elevated intracranial pressure. We sought to describe the presence of and factors associated with optic nerve edema in MFACs, focusing on the utility of ophthalmologic evaluations for guiding cyst management.

Methods: We reviewed clinical and radiographic information for all patients with MFACs with ophthalmologic evaluations at our institution.

The Importance of Neurosurgical Intervention and Surgical Timing for Management of Pediatric Patients with Myelomeningoceles in Bangladesh.

Objective: Reports on the management and survival of children with myelomeningocele defects in Bangladesh are limited. This study describes the characteristics and outcomes of these children, focusing on the timing of surgical repair and factors affecting survival.

Methods: We enrolled patients with myelomeningoceles in a case-control study on arsenic exposure and spina bifida in Bangladesh.

Learning from the past: How lessons from Hinman syndrome can inform the psychological management of lower urinary tract dysfunction.

Introduction: Pediatric patients with lower urinary tract dysfunction (LUTD) experience a variety of medical and psychosocial concerns that can negatively impact their clinical management and quality of life. When initially described by Drs Hinman and Baumann, patients with a form of severe LUTD, later dubbed Hinman syndrome, were characterized as having a "general attitude of being failures." While this mention was noteworthy as it incorporated an understanding of the interplay between psychological factors and urologic conditions, there have been delays in implementing psychological intervention as a standard of care in patients with LUTD broadly, and perhaps too keen of a focus on youth diagnosed with Hinman syndrome specifically.

Young Adults with Type 1 Diabetes.

Young adults experience multiple developmental transitions across social, educational, vocational, residential, and financial life domains. These transitions are potential competing priorities to managing a chronic condition such as type 1 diabetes and can contribute to poor psychosocial and medical outcomes. In this narrative review, we describe population outcomes of young adult populations and the unique considerations associated with managing type 1 diabetes in young adulthood.

The importance of intensive follow-up and achieving optimal chronic antithrombotic treatment in hospitalized medical patients with anemia: A prospective cohort study.

Background: Anemia is a global health concern, particularly among the elderly on chronic antithrombotic treatment. Close monitoring of hemoglobin (Hb) levels and achievement of an optimized treatment significantly enhance patients' quality of life. This study aimed to examine the impact of antithrombotic treatment on Hb levels and readmissions in hospitalized patients with anemia.

Somatic Mosaicism in Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.

Objectives: Brain-limited pathogenic somatic variants are associated with focal pediatric epilepsy, but reliance on resected brain tissue samples has limited our ability to correlate epileptiform activity with abnormal molecular pathology. We aimed to identify the pathogenic variant and map variant allele fractions (VAFs) across an abnormal region of epileptogenic brain in a patient who underwent stereoelectroencephalography (sEEG) and subsequent motor-sparing left frontal disconnection.

Methods: We extracted genomic DNA from peripheral blood, brain tissue resected from peri-sEEG electrode regions, and microbulk brain tissue adherent to sEEG electrodes.

Preventing posttraumatic stress disorder following childbirth: a systematic review and meta-analysis.

Objective: Women can develop posttraumatic stress disorder in response to experienced or perceived traumatic, often medically complicated, childbirth; the prevalence of these events remains high in the United States. Currently, no recommended treatment exists in routine care to prevent or mitigate maternal childbirth-related posttraumatic stress disorder. We conducted a systematic review and meta-analysis of clinical trials that evaluated any therapy to prevent or treat childbirth-related posttraumatic stress disorder.

Management of Choroid Plexus Tumors and the Benefit of Preoperative Embolization in Pediatric Patients: Report of 46 Cases from a Single Institution.

Objective: Optimal choroid plexus tumor (CPT) treatment involves gross total resection; however, intraoperative hemorrhage risk remains significant given tumor vascularity. This study describes pediatric CPT management and identifies patients most likely to benefit from preoperative embolization.

Methods: CPTs resected from 1997 to 2021 were included.

Associations of Serum Total Homocysteine Levels with Various Demographic, Clinical and Genetic Characteristics in Healthy Greek Adults.

Aim: The aim of this study was to investigate the association of serum total Hcy (tHcy) levels with various demographic, clinical and genetic characteristics in healthy Greek adults.

Methods: Anthropometric characteristics (height, weight), systolic and diastolic blood pressure, complete blood count and biochemical assessments, were recorded and measured among 383 Greek adults (199 men). Serum folate, Cobalamin (Cbl) and tHcy levels were determined using immunoassays methods.

Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development.

Establishing an early and accurate genetic diagnosis among patients with differences of sex development (DSD) is crucial in guiding the complex medical and psychosocial care they require. Genetic testing routinely utilized in clinical practice for this population is predicated upon physical exam findings and biochemical and endocrine profiling. This approach, however, is inefficient and unstandardized.

Preventing Pediatric Medical Traumatic Stress in a Pediatric Urology Outpatient Setting: Application of the Pediatric Psychosocial Preventative Health Model (PPPHM).

Objective: The objectives of this topical review are to (1) increase understanding of pediatric medical traumatic stress (PMTS) in pediatric urology populations through literature review, (2) identify a theoretical model to guide prevention of PMTS in this population, and (3) provide clinical care recommendations based on the model identified. Authors introduce a new term "uropsychology" to describe psychological practice that specializes in the treatment of urology patients.

Methods: Pediatric uropsychologists from 5 pediatric medical care centers gathered to discuss their experience with treating PMTS in their settings and to review existing literature related to PMTS in pediatric urology, PMTS in other populations, and established models for prevention.