Publications by authors named "M Y Pac"
Background: Pediatric kidney transplantations are rarely performed, and there is limited knowledge about the diversity in current clinical practices across Europe. This study aims to explore the utility of clinical snapshot studies in identifying these disparities, establishing a foundation for future snapshot studies and standardization efforts.
Methods: A pilot clinical snapshot study was conducted, with invitations extended to all 109 pediatric kidney transplant centres in Europe.
Background: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only 8 documented cases in the literature. Surprisingly, the first agammaglobulinemic patient identified by newborn screening (NBS) through quantification of kappa-deleting recombination excision circles harbored variants in IGLL1.
Objective: We comprehensively reviewed clinical and immunologic findings of patients with B-cell deficiency attributed to variants in IGLL1.
Article Synopsis
- - Idiopathic nephrotic syndrome is the most common chronic kidney disease in children, often treated successfully with steroids, but some cases resist treatment, leading to a condition called steroid-resistant nephrotic syndrome (SRNS), frequently linked to focal segmental glomerulosclerosis (FSGS).
- - Genetic testing has emerged as a key method for diagnosing SRNS, helping identify genetic causes associated with the condition, particularly mutations affecting kidney function.
- - A case study of a 17-year-old boy with epilepsy and developmental delays showed a specific genetic mutation linked to early-onset FSGS, suggesting that gene sequencing is important for diagnosing similar cases, especially when neurological symptoms are present.
Background And Objecitves: The currently available kidney volume normative values in children are restricted to small populations from single-centre studies not assessing kidney function and including none or only a small number of adolescents. This study aimed to obtain ultrasound-based kidney volume normative values derived from a large European White/Caucasian paediatric population with normal kidney function.
Methods: After recruitment of 1427 children aged 0-19 years, 1396 individuals with no history of kidney disease and normal estimated glomerular filtration rate were selected for the sonographic evaluation of kidney volume.
This retrospective study investigated real-world hyaluronidase-facilitated subcutaneous immunoglobulin (fSCIG) treatment patterns in pediatric patients with primary immunodeficiency diseases (PIDs) in Poland. Clinical and demographic information, fSCIG treatment parameters and clinical outcomes were extracted from medical records of 28 participants (aged ≤18 years) with PIDs who received fSCIG. 18 participants (64.
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