[Management of a fetus suspected of differences of sex development (DSD).].

The management of a fetus suspected of having a variation in genital development is a complex situation. In cases of complete discordance or an unusual appearance of the external genitalia (EG), management always begins with a diagnostic morphological ultrasound. This ultrasound aims to provide detailed imaging of the EG and internal genitalia (IG), focusing on identifying the presence of Müllerian derivatives and detecting any associated malformations.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn.

Importance: Preventive efforts in pregnancy-related alloimmunization have considerably decreased the prevalence of hemolytic disease of the fetus and newborn (HDFN). International studies are therefore essential to obtain a deeper understanding of the postnatal management and outcomes of HDFN. Taken together with numerous treatment options, large practice variations among centers may exist.

Do you know your PSMA-tracer? Variability in the biodistribution of different PSMA ligands and its potential impact on defining PSMA-positivity prior to PSMA-targeted therapy.

Background: In clinical practice, several radiopharmaceuticals are used for PSMA-PET imaging, each with distinct biodistribution patterns. This may impact treatment decisions and outcomes, as eligibility for PSMA-directed radioligand therapy is usually assessed by comparing tumoral uptake to normal liver uptake as a reference. In this study, we aimed to compare tracer uptake intraindividually in various reference regions including liver, parotid gland and spleen as well as the respective tumor-to-background ratios (TBR) of different F-labeled PSMA ligands to today's standard radiopharmaceutical Ga-PSMA-11 in a series of patients with biochemical recurrence of prostate cancer who underwent a dual PSMA-PET examination as part of an individualized diagnostic approach.

Temporal Trends of Subsequent CNS Malignancies Among Survivors of Childhood Cancer.

Purpose: It is not known whether temporal changes in childhood cancer therapy have reduced risk of subsequent malignant neoplasms (SMNs) of the central nervous system (CNS), a frequently fatal late effect of cancer therapy.

Methods: Five-year survivors of primary childhood cancers diagnosed between 1970-1999 in the Childhood Cancer Survivor Study with a subsequent CNS SMN were identified. Cumulative incidence rates and standardized incidence ratios (SIR) were compared among survivors diagnosed between 1970-1979 (N = 6223), 1980-1989 (N = 9680), and 1990-1999 (N = 8999).

DNTT-mediated DNA Damage Response Drives Inotuzumab Ozogamicin Resistance in B-cell Acute Lymphoblastic Leukemia.

Inotuzumab Ozogamicin (InO) is an antibody-calicheamicin conjugate with striking efficacy in B-cell acute lymphoblastic leukemia (B-ALL). However, there is wide inter-patient variability in treatment response, and the genetic basis of this variation remains largely unknown. Using a genome-wide CRISPR screen, we discovered the loss of DNTT as a primary driver of InO resistance.

Preservation of the azygos vein versus ligation of the azygos vein during primary surgical repair of congenital esophageal atresia.

Background: Esophageal atresia is one of the most common life-threatening congenital malformations and is defined as an interruption in the continuity of the esophagus with or without fistula to the trachea or bronchi. Definitive treatment is surgical ligation of the fistula if present and esophageal end-to-end anastomosis of the two pouches, thereby reconstructing the continuity of the esophagus. During this procedure, the surgeon may choose to either ligate or preserve the azygos vein, a major draining vein for the esophagus and surrounding structures, but no definitive consensus on the matter exists.

Intelligent biology and medicine: Accelerating innovative computational approaches.

In this editorial, we summarize the 2023 International Conference on Intelligent Biology and Medicine (ICIBM 2023) conference which was held on July 16-19, 2023 in Tampa, Florida, USA. We then briefly describe the nine research articles included in this special issue. ICIBM 2023 scientific program included four tutorials and workshops, four keynote lectures, four eminent scholars' presentations, 11 concurrent scientific sessions, and a poster session.

Impulsivity behaviors and white matter mediate the relationship between genetic risk for cannabis use disorder and early cannabis use in adolescents.

Background And Aim: Cannabis use disorder (CUD) is strongly influenced by genetic factors; however the mechanisms underpinning this association are not well understood. This study investigated whether a polygenic risk score (PRS) based on a genome-wide association study for CUD in adults predicts cannabis use in adolescents and whether the association can be explained by inter-individual variation in structural properties of brain white matter or risk-taking behaviors.

Design And Setting: Longitudinal and cross-sectional analyses using data from the IMAGEN cohort, a European longitudinal study integrating genetic, neuroimaging and behavioral measures.

Efficacy and safety of ibuprofen and naproxen in the treatment of oligoarticular juvenile idiopathic arthritis: bi-national cohort study.

Objectives: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children. Nonsteroidal anti-inflammatory drugs (NSAIDs) and intra-articular corticosteroid injections are first-line therapy for oligoarticular JIA. NSAIDs Adverse events (AEs) include gastrointestinal ulcers/bleeding and impaired renal function.

Development and external validation of a machine learning model for brain injury in pediatric patients on extracorporeal membrane oxygenation.

Background: Patients supported by extracorporeal membrane oxygenation (ECMO) are at a high risk of brain injury, contributing to significant morbidity and mortality. This study aimed to employ machine learning (ML) techniques to predict brain injury in pediatric patients ECMO and identify key variables for future research.

Methods: Data from pediatric patients undergoing ECMO were collected from the Chinese Society of Extracorporeal Life Support (CSECLS) registry database and local hospitals.

The modification effect of concentration on the correlation between ambient ozone and psoriasis: a hospital-based time-series study.

The effects of short-term ambient ozone (O) exposure on health outcomes have received growing concerns, but its effects on psoriasis is still unclear. The purpose of our study was to investigate the effects of short-term exposure to O on psoriasis, and to find out potential modifiers. A hospital-based time-series study with outpatient visit data of psoriasis was performed in Chongqing, the largest metropolitan in Southeast China.

A bivalent COVID-19 mRNA vaccine elicited broad immune responses and protection against Omicron subvariants infection.

Continuously emerging SARS-CoV-2 Omicron subvariants pose a threat thwarting the effectiveness of approved COVID-19 vaccines. Especially, the protection breadth and degree of these vaccines against antigenically distant Omicron subvariants is unclear. Here, we report the immunogenicity and efficacy of a bivalent mRNA vaccine, PTX-COVID19-M1.

A Comparison of Glucose and Additional Signals for Three Different Exercise Types in Adolescents with Type 1 Diabetes Using a Hybrid Closed-Loop System.

To compare glycemic outcomes during and following moderate-intensity exercise (MIE), high-intensity interval exercise (HIE), and resistance exercise (RE) in adolescents with type 1 diabetes (T1D) using a hybrid closed-loop (HCL) insulin pump while measuring additional physiological signals associated with activity. Twenty-eight adolescents (average age 16.3 ± 2.

Dysregulation of Airway and Systemic Interferon Responses Promote Asthma Exacerbations in Urban Children.

Background: Determining why some upper respiratory illnesses provoke asthma exacerbations remains an unmet need.

Objective: To identify transcriptome-wide gene expression changes associated with colds that progress to exacerbation.

Methods: 208 urban children (6-17 years) with exacerbation-prone asthma were prospectively monitored for up to two cold illnesses.

Cognitive Disengagement Syndrome and Autism Traits are Empirically Distinct from each Other and from Other Psychopathology Dimensions.

Recently, an association between cognitive disengagement syndrome (CDS), formerly sluggish cognitive tempo, and autism has been documented, but it is not known if the association is due to overlapping autism and CDS traits or if CDS is empirically distinct from autism. Mothers rated 2,209 children 4-17 years (1,177 with autism, 725 with ADHD-Combined type, and 307 with ADHD-Inattentive type) on the Pediatric Behavior Scale. Factor analysis of the Pediatric Behavior Scale items indicated that CDS and autism traits are empirically distinct from each other without cross-loading and are distinct from eight other factors (attention deficit, impulsivity, hyperactivity, oppositional behavior, irritability/anger, conduct problems, depression, and anxiety).

Prognostic and therapeutic implications of measurable residual disease levels during remission induction of childhood ALL.

We evaluated the prognostic and therapeutic significance of measurable residual disease (MRD) during remission induction in pediatric acute lymphoblastic leukemia (ALL) patients. In the CCCG-ALL-2015 protocol, 7640 patients were categorized into low-, intermediate-, or high-risk groups based on clinical and genetic features. Final risk classification was determined by MRD assessed via flow cytometry on Days 19 and 46 of remission induction, with additional intensified chemotherapy for Day 19 MRD ≥1%.

Serum Phosphorus and Hypophosphatemia During Therapy of Diabetic Ketoacidosis in Children: Single-Center, Retrospective Cohort 2016-2022.

Objectives: To assess factors associated with serum phosphorus (P) and hypophosphatemia in children with type 1 diabetes mellitus (T1DM) treated for diabetic ketoacidosis (DKA).

Design: Retrospective cohort.

Setting: Community-based PICU in a university-affiliated hospital.

Protracted Tuberculosis Outbreak in a Pasifika Diaspora in Western Sydney, Australia: The Importance of Community Engagement.

A prolonged tuberculosis outbreak, linked by whole-genome sequencing, occurred in a Pasifika extended family over 10 years (2013-2022) in Sydney, Australia. Despite Australia's low tuberculosis incidence, social and cultural complexities, and coronavirus disease 2019 (COVID-19) disruptions exacerbated transmission. Control required culturally sensitive, family-centered care and robust health system engagement.

Variant Pseudocystic Desmoplastic Small Round Cell Tumor With Heterologous Mullerian Cysts.

A desmoplastic small round cell tumor (DSRCT) presented in a 13-year-old female with an acute abdomen due to torsion of a fallopian tube cyst. She was found to have an incidental 2 cm pedunculated, solid, and multicystic mass attached to the pelvic floor on laparoscopy. The neoplasm had a variably myxoid and spindle cell pattern with nests and cords of small cells, forming pseudocysts, and true cysts lined by ciliated epithelium which were PAX-8+ and ER+/PR+.

Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT).

Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions have hindered research progress. To address this, the UChicago Monogenic Diabetes Registry (UCMDMR) and UChicago Data for the Common Good (D4CG) created a national consortium of MDM research institutions called the PREcision DIabetes ConsorTium (PREDICT).

Relapsed childhood T-cell acute lymphoblastic leukemia and lymphoblastic lymphoma.

While outcomes for pediatric acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LBL) have improved dramatically in recent decades, relapsed and refractory disease remain a significant therapeutic challenge. This is particularly true for patients with T-cell ALL and LBL, where survival for patients with relapsed/refractory disease remains dismal. Recent efforts to comprehensively profile the genomics of T-ALL/LBL to improve understanding of disease biology have enhanced our ability to identify high-risk patients at diagnosis who are more likely to relapse and have also identified novel targets for precision medicines.

Prognostic factors in patients with localized and metastatic alveolar rhabdomyosarcoma. A report from two studies and two registries of the Cooperative Weichteilsarkom Studiengruppe CWS.

Background: The histologic classification of rhabdomyosarcoma (RMS) as alveolar (aRMS) or embryonal (eRMS) is of prognostic importance, with the aRMS being associated with a worse outcome. Specific gene fusions (PAX3/7::FOXO1) found in the majority of aRMS have been recognized as markers associated with poor prognosis and are included in current risk stratification instead of histologic subtypes in localized disease. In metastatic disease, the independent prognostic significance of fusion status has not been definitively established.

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).

The TRIPOD-LLM reporting guideline for studies using large language models.

Large language models (LLMs) are rapidly being adopted in healthcare, necessitating standardized reporting guidelines. We present transparent reporting of a multivariable model for individual prognosis or diagnosis (TRIPOD)-LLM, an extension of the TRIPOD + artificial intelligence statement, addressing the unique challenges of LLMs in biomedical applications. TRIPOD-LLM provides a comprehensive checklist of 19 main items and 50 subitems, covering key aspects from title to discussion.