NATIONAL REGISTRY SYSTEM FOR HOME MECHANICAL VENTILATION SUPPORT IN CHILDREN: FIRST DATA FROM TURKIYE.

Introduction: Advances in neonatal and pediatric intensive care have improved patient survival rates, emphasizing the need for respiratory support in cases of chronic respiratory failure, resulting in the establishment of the Turkish National Pediatric Patients Receiving Home Mechanical Ventilation (HMV) Support Registration System in 2023. This study aims to present the initial findings of the registry.

Methods: In this cross-sectional study, epidemiological and demographic data was obtained from the registry and compared between invasive ventilation (IV) and non-invasive ventilation (NIV) groups.

A new scoring in differential diagnosis: multisystem inflammatory syndrome or adenovirus infection?

Background/aim: Differentiating multisystem inflammatory syndrome in children (MIS-C) from adenovirus infection (AI) can be challenging due to similar clinical and laboratory findings. This study aimed to identify distinguishing characteristics and develop a scoring system to facilitate accurate diagnosis.

Materials And Methods: A comprehensive review of medical records was undertaken for 108 MIS-C patients and 259 patients with confirmed AI.

Genotype-phenotype correlation in recessive DNAJB4 myopathy.

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood.

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in DNAJB4 cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood.

Therapeutic insights: Use of ceftazidime-avibactam in pediatric patients.

Background: The increasing worldwide prevalence of multidrug-resistant (MDR) bacteria underscores the pressing demand for innovative therapeutic solutions. Ceftazidime-avibactam (CAZ-AVI) represents a promising new drug combination that has received approval for specific infection types. However, there is limited information regarding its application in pediatric patients.