Improved Patient-Reported Outcomes With Post-Transplant Cyclophosphamide: A Quality-of-Life Evaluation and 2-Year Outcomes of BMT CTN 1703.

The BMT CTN 1703 phase III trial confirmed that graft-versus-host disease (GVHD) prophylaxis with post-transplantation cyclophosphamide (PTCy), tacrolimus (Tac), and mycophenolate mofetil (MMF) results in superior GVHD-free, relapse-free survival (GRFS) compared with Tac/methotrexate (MTX) prophylaxis. This companion study assesses the effect of these regimens on patient-reported outcomes (PROs). Using the Lee Chronic GVHD Symptom Score and PROMIS subscales (physical function, GI symptoms, social role satisfaction) as primary end points and hemorrhagic cystitis symptoms and Lee subscales as secondary end points, responses from English and Spanish speakers were analyzed at baseline and days 100, 180, and 365 after transplant.

The American Clinical Neurophysiology Society Guideline on Indications for Continuous Electroencephalography Monitoring in Neonates.

Purpose: Continuous EEG (cEEG) monitoring is increasingly used in the management of neonates with seizures. There remains debate on what clinically relevant information can be gained from cEEG in neonates with suspected seizures, at high risk for seizures, or with definite seizures, as well as the use of cEEG for prognosis in a variety of conditions. In this guideline, we address these questions using American Clinical Neurophysiology Society structured methodology for clinical guideline development.

Mitochondrial DNA lineages determine tumor progression through T cell reactive oxygen signaling.

Mitochondrial DNA (mtDNA) is highly polymorphic, and host mtDNA variation has been associated with altered cancer severity. To determine the basis of this mtDNA-cancer association, we analyzed conplastic mice with the C57BL/6J (B6) nucleus but two naturally occurring mtDNA lineages, and , where mitochondria generate more oxidative phosphorylation (OXPHOS)-derived reactive oxygen species (mROS). In a cardiac transplant model, Foxp3+ T regulatory (Treg) cells supported long-term allograft survival, whereas Treg cells failed to suppress host T effector (Teff) cells, leading to acute rejection.

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.

Detailed analysis of cystic lesions in patients after open fetal repair and postnatal myelomeningocele closure.

Purpose: We sought to evaluate the incidence, natural history, and management of cystic spinal lesions following myelomeningocele/myeloschisis closure.

Methods: We performed a single-center retrospective review of all patients who underwent myelomeningocele/myeloschisis closure from 2013 to 2018 with follow-up to 5 years old.

Results: We analyzed 100 fetal repairs and 81 postnatal closures from 305 total surgeries.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges.

Background: Genetic testing has traditionally been divided into molecular genetics and cytogenetics, originally driven by the use of different assays and their associated limitations. Cytogenetic technologies such as karyotyping, fluorescent in situ hybridization or chromosomal microarrays are used to detect large "megabase level" copy number variants and other structural variants such as inversions or translocations. In contrast, molecular methodologies are heavily biased toward subgenic "small variants" such as single nucleotide variants, insertions/deletions, and targeted detection of intragenic, exon level deletions or duplications.

Novel Concepts on the Functional Neuroanatomy of the Anorectum: Implications for Anorectal Neuropathy and Neuromodulation Therapy.

Anorectal neuropathy causes anorectal dysfunction, yet it is poorly recognized. This stems from both a lack of understanding of the extrinsic and intrinsic innervation of the anorectum and tools for evaluation of neuronal function. Our objective was to provide an improved understanding of the neuronal networks of the anorectum and discuss its functional significance.

Two-hit mouse model of heart failure with preserved ejection fraction combining diet-induced obesity and renin-mediated hypertension.

Heart failure with preserved ejection fraction (HFpEF) is increasingly common but its pathogenesis is poorly understood. The ability to assess genetic and pharmacologic interventions is hampered by the lack of robust preclinical mouse models of HFpEF. We developed a novel "two-hit" model, which combines obesity and insulin resistance with chronic pressure overload to recapitulate clinical features of HFpEF.

ATLAS-seq: a microfluidic single-cell TCR screen for antigen-reactive TCRs.

Discovering antigen-reactive T cell receptors (TCRs) is central to developing effective engineered T cell immunotherapies. However, the conventional technologies for isolating antigen-reactive TCRs (i.e.

Potential nuances in renoprotective properties of estrogen in females.

A current study by Kitai et al. found that ovariectomy before estrogen/female sex hormone sensitization at puberty provided protection against kidney ischemia reperfusion injury, challenging the general consensus within the field that estrogen provides renoprotective function. These results are intriguing and could have important clinical implications, while requiring some clarification and substantiation of the conclusions reported.

Human intention recognition for trauma resuscitation: An interpretable deep learning approach for medical process data.

Objective: Trauma resuscitation is the initial evaluation and management of injured patients in the emergency department. This time-critical process requires the simultaneous pursuit of multiple resuscitation goals. Recognizing whether the required goal is being pursued can reduce errors in goal-related task performance and improve patient outcomes.

Multi-Institutional Study of Multimodal Analgesia Practice, Pain Trajectories, and Recovery Trends After Spine Fusion for Idiopathic Scoliosis.

Background: Posterior spinal fusion (PSF) surgery for correction of idiopathic scoliosis is associated with chronic postsurgical pain (CPSP). In this multicenter study, we describe perioperative multimodal analgesic (MMA) management and characterize postoperative pain, disability, and quality of life over 12 months after PSF in adolescents and young adults.

Methods: Subjects (8-25 years) undergoing PSF were recruited at 6 sites in the United States between 2016 and 2023.

Occupational Therapists Enhance Comprehensive Health Assessments for Children in Foster Care.

Aims: Children in foster care (CFC) have prevalent developmental health needs. Comprehensive health assessments (CHA) that include development evaluation are recommended for CFC. The impact of adding occupational therapy (OT) to multidisciplinary CHA teams is unknown.

The fungal gut microbiota in pediatric-onset multiple sclerosis.

Evidence suggests that the gut microbiome may play a role in multiple sclerosis (MS). However, the majority of the studies have focused on gut bacterial communities; none have examined the fungal microbiota (mycobiota) in persons with pediatric-onset multiple sclerosis (POMS). We examined the gut mycobiota in persons with and without POMS through a cross-sectional examination of the gut mycobiota from 46 participants' stool samples (three groups: 18 POMS, 13 acquired monophasic demyelinating syndromes [monoADS], and 15 unaffected controls).

Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

Objective: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.

Methods: A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.

Prediction of good neurological outcome after return of circulation following paediatric cardiac arrest: a systematic review and meta-analysis.

Aim: To evaluate the ability of blood-biomarkers, clinical examination, electrophysiology, or neuroimaging, assessed within 14 days from return of circulation to predict good neurological outcome in children following out- or in-hospital cardiac arrest.

Methods: Medline, EMBASE and Cochrane Trials databases were searched (2010-2023). Sensitivity and false positive rates (FPR) for good neurological outcome (defined as either 'no, mild, moderate disability or minimal change from baseline') in paediatric survivors were calculated for each predictor.

Cystic masses of the pediatric lung: update on congenital pulmonary airway malformation and its differential diagnosis.

Localized cystic lung lesions in pediatric patients encompass a spectrum of benign and rare malignant conditions that are quite distinct from cystic lung disease arising in adulthood. The majority have historically fallen under the diagnostic category of "congenital pulmonary airway malformation," a term that has been used to denote a diverse group of diseases ranging in etiology from ectopia to bronchial atresia to mosaic oncogenic mutation or neoplasia. This article reviews the clinical characteristics, gross and histologic features, and pathogenetic underpinnings of congenital pulmonary airway malformation as well as lesions that enter its histologic differential diagnosis.