A5021317565- Genomics and Rare Diseases
- Acute Myeloid Leukemia Research
- Neonatal Respiratory Health Research
- Metabolism and Genetic Disorders
- Blood disorders and treatments
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Immunodeficiency and Autoimmune Disorders
Kent Hastanesi
2023-2024
Acıbadem Adana Hospital
2023-2024
Introduction Rare and ultra-rare genetic conditions significantly contribute to infant morbidity mortality, often presenting with atypical features heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely cost-effective approach diagnosis, aiding in early clinical management reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation (NGS) as diagnostic instrument for critically ill neonatal pediatric ICU patients...
Background: Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield whole-genome sequencing (WGS) pediatric cohort diverse phenotypes, focusing on role clinical expertise interpreting WGS results. Methods: A retrospective was conducted at Acibadem University’s Maslak Hospital Istanbul, Turkey, involving (0–18 years) who underwent testing....
Bone marrow failure type 3 (BMFS3) (MIM:617052) is a subtype of inherited bone syndromes (IBMFS) caused by homozygous pathogenic variants in DNAJC21. It was first defined 2016, and to date, 19 patients have been reported. Here we report the adult patient; 20-year-old female with novel frameshift variant DNAJC21 presents thrombocytopenia, dysmorphic findings, ovarian agenesis. Our patient expands clinical spectrum milder end suggests that DNAJC21-related disorders can relatively mild...