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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFA rare case of steroid-resistant nephrotic syndrome complicated by Wernicke's encephalopathy.
Pediatr Nephrol
January 2025
Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, 1-6-7 Minatojima-minamimachi, Chuo-ku, Kobe, Hyogo, 6500047, Japan.
Wernicke's encephalopathy (WE) is a severe neurological condition caused by the deficiency of thiamine, which is a vitamin B1 molecule. Herein, we present the case of a 3-year-old girl with steroid-resistant nephrotic syndrome (SRNS) who did not achieve remission despite steroid pulse therapy (MPT) and rituximab. She had frequent vomiting and decreased oral intake on the 61st day.
View Article and Find Full Text PDFMicroRNA Expression and Target Prediction in Children with Nephrotic Syndrome.
Indian J Nephrol
June 2024
Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research (SRIHER), Porur, Chennai, India.
Background: Nephrotic syndrome is a common cause of kidney diseases in children. Many studies have examined the association of microRNAs playing potential roles in many pathophysiological functions. We investigated the expression pattern of the microRNAs miR-17-5P, miR-155p, miR-424-5p in children with steroid sensitive nephrotic syndrome (SSNS) and steroid resistance nephrotic syndrome (SRNS), along with the healthy subjects.
View Article and Find Full Text PDFThe Evolution of Immunosuppressive Therapy in Pig-to-Nonhuman Primate Organ Transplantation.
Transpl Int
January 2025
Center for Transplantation Sciences, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
An overview is provided of the evolution of strategies towards xenotransplantation during the past almost 40 years, focusing on advances in gene-editing of the organ-source pigs, pre-transplant treatment of the recipient, immunosuppressive protocols, and adjunctive therapy. Despite initial challenges, including hyperacute rejection resulting from natural (preformed) antibody binding and complement activation, significant progress has been made through gene editing of the organ-source pigs and refinement of immunosuppressive regimens. Major steps were the identification and deletion of expression of the three known glycan xenoantigens on pig vascular endothelial cells, the transgenic expression of human "protective" proteins, e.
View Article and Find Full Text PDFChanges in Serum Immunoglobulin Levels Play as Predictors of Treatment Response and Prognosis in Pediatric Idiopathic Nephrotic Syndrome During the Remission Phase.
Immun Inflamm Dis
January 2025
Autoimmune Diseases Research Center, Kashan University of Medical Sciences, Kashan, Iran.
Background: Nephrotic syndrome is an immune-mediated renal disorder characterized by T-cell and B-cell dysfunctions with changes in immunoglobulin (Ig) levels and the IgG:IgM ratio. Therefore, this study aimed to determine whether the serum level of Igs can be considered as an index to predict the response to treatment and the prognosis of idiopathic nephrotic syndrome (INS) in children in the remission phase.
Methods: The study population consisted of 38 children with INS in the remission phase and 38 age- and sex-matched healthy children.
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