Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Unlabelled: 3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases.

Evaluation of Tracheostomy Patients in Our Pediatric Intensive Care Unit: A Single-Center Study.

Objectives: A tracheostomy is a surgical procedure that can be performed on critically ill patients of all ages in intensive care units as indicated, and its use has been increasing in recent years. The most common indications are prolonged mechanical ventilation and upper airway obstruction. This study aimed to examine the indications for tracheostomy, assess the outcomes of patients who underwent the procedure, and identify the factors affecting these outcomes.

Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height.

Objectives: Central precocious puberty (CPP) is the onset of puberty before the age of 8 in girls and 9 in boys. The primary goal of CPP treatment is control and arrest of puberty development. In this study, it was aimed to determine the factors associated with final height in patients who received gonadotropin-releasing hormone analogs (GnRHa) treatment and reached their final height.