JohnJAcademy.com
Blog

Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism

Front Pediatr. 2025 Jun 24;13:1550608. doi: 10.3389/fped.2025.1550608. eCollection 2025. ABSTRACT INTRODUCTION: Bartter syndrome (BS) is a rare group of inherited renal tubulopathies. Diagnosis of BS …

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome

Oman Med J. 2025 Jan 31;40(1):e712. doi: 10.5001/omj.2025.44. eCollection 2025 Jan. ABSTRACT OBJECTIVES: Beckwith-Wiedemann syndrome (BWS) is a rare genetic and cancer-predisposing disorder characterized by …

Reproductive Pathogenic Characteristics of a Highly Virulent Porcine Reproductive and Respiratory Syndrome Virus L1J (Lineage Korean Clade C) in Gilts

Transbound Emerg Dis. 2025 Jul 1;2025:1172597. doi: 10.1155/tbed/1172597. eCollection 2025. ABSTRACT Porcine reproductive and respiratory syndrome virus (PRRSV) remains a major challenge to swine health …

Real-world outcomes of spinal muscular atrophy treatment with onasemnogene abeparvovec in Croatia: a comprehensive case series and literature review

Front Med (Lausanne). 2025 Jun 24;12:1609072. doi: 10.3389/fmed.2025.1609072. eCollection 2025. ABSTRACT INTRODUCTION: The development of novel treatment options and the implementation of newborn screening programs …

The Effect of Impaired Cerebral Autoregulation on Postoperative Delirium in Neonates and Infants After Corrective Cardiac Surgery: A Study on Modifiable Risk Factors for Delirium

Rev Cardiovasc Med. 2025 Jun 30;26(6):37292. doi: 10.31083/RCM37292. eCollection 2025 Jun. ABSTRACT BACKGROUND: The risk factors for developing postoperative pediatric delirium (PD) are multifactorial and …

A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial Disorder

Am J Med Genet A. 2025 Jul 9:e64177. doi: 10.1002/ajmg.a.64177. Online ahead of print. ABSTRACT POLG2 encodes an accessory subunit in DNA polymerase gamma that …