Diagnostic Challenges of Inherited Renal Tubular Dysgenesis
Am J Med Genet A. 2025 Jun 16:e64155. doi: 10.1002/ajmg.a.64155. Online ahead of print. ABSTRACT We present a case of renal tubular dysgenesis, a rare …
Month: June 2025
The Question of Protection: Hepatitis B Vaccine and Waning Antibody Levels
J Pediatric Infect Dis Soc. 2025 Jun 16;14(6):piaf044. doi: 10.1093/jpids/piaf044. NO ABSTRACT PMID:40519133 | DOI:10.1093/jpids/piaf044
Evaluation and Potential Improvement of Patient Attendance at a Multidisciplinary Clinic
Cleft Palate Craniofac J. 2025 Jun 16:10556656251349283. doi: 10.1177/10556656251349283. Online ahead of print. ABSTRACT BackgroundConsolidated, multidisciplinary care for children with cleft palates and craniofacial conditions …
Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis
Am J Med Genet A. 2025 Jun 16:e64146. doi: 10.1002/ajmg.a.64146. Online ahead of print. ABSTRACT Rare diseases affect 6% of Western societies and are a …
From Hip to Tip: Harvesting Iliac Crest Cartilage for Delayed Cleft Rhinoplasty
Cleft Palate Craniofac J. 2025 Jun 16:10556656251349339. doi: 10.1177/10556656251349339. Online ahead of print. ABSTRACT ObjectiveThis study evaluates nasal symmetry outcomes in patients with unilateral cleft …
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome
Am J Med Genet B Neuropsychiatr Genet. 2025 Jun 16:e33036. doi: 10.1002/ajmg.b.33036. Online ahead of print. ABSTRACT Phelan-McDermid syndrome (PMS) is a genetic condition caused …
Pancreatic Pseudocyst Following Spinal Surgery: Always Think About It-A Case Report
Ann Ital Chir. 2025;96(6):725-730. doi: 10.62713/aic.3798. ABSTRACT AIM: To report the conservative management of a pancreatic pseudocyst (PP) following spinal surgery for neurogenic scoliosis in …
Application of New Pediatric Sepsis Definition to a Multicenter Observational Cohort of Previously Enrolled Severe Sepsis Patients Defined by SIRS Plus Organ Dysfunction
J Intensive Care Med. 2025 Jun 16:8850666251349790. doi: 10.1177/08850666251349790. Online ahead of print. ABSTRACT IntroductionIn 2024, a Society of Critical Care Medicine task force updated …
Hyper-extralemniscal model of Fragile X syndrome
Cereb Cortex. 2025 Jun 4;35(6):bhaf141. doi: 10.1093/cercor/bhaf141. ABSTRACT Auditory hypersensitivity is a well-established phenotype of Fragile X syndrome (FXS), but how it relates to neurobehavioral …
Identifying research priorities for paediatric nutrition for Australia: A Delphi consensus approach
Nutr Diet. 2025 Jun;82(3):319-326. doi: 10.1111/1747-0080.70017. ABSTRACT AIM: The Australian Academy of Science’s Decadal Plan for the science of nutrition emphasised research investment combined with …