Cystic echinococcosis (CE) is a neglected zoonotic tropical disease caused by Echinococcus granulosus sensu lato. The aim of this study was to investigate the genetic variation of hydatid cyst isolates obtained from surgically confirmed paediatric cases originating from two different regions in eastern Turkey. Seventeen paediatric cases aged between 6 and 16 were operated by open surgery, and the germinal layers of their cysts were obtained for further molecular analyses. After genomic DNA isolation, 875 bp mt-CO1 gene fragments were amplified in all samples by PCR. Then, the unidirectional sequence analyses of the PCR products were carried out. According to the BLAST analyses of 17 sequences, 16 of these sequences were matched with E. granulosus sensu stricto, while one sequence was identified as E. canadensis (G6/G7) for the first time in paediatric cases in Turkey. High haplotype diversity and low nucleotide diversity were observed in the E. granulosus s.s. sequences.
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http://dx.doi.org/10.1017/S0031182021001098 | DOI Listing |
J Natl Cancer Inst
January 2025
Surveillance Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD, USA.
Childhood cancers are a heterogeneous group of rare diseases, accounting for less than 2% of all cancers diagnosed worldwide. Most countries, therefore, do not have enough cases to provide robust information on epidemiology, treatment, and late effects, especially for rarer types of cancer. Thus, only through a concerted effort to share data internationally will we be able to answer research questions that could not otherwise be answered.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou, 310053, Zhejiang, China.
Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
Methods: In this retrospective study, NICCD patients were classified into "Newborn Screening" (64 individuals) and "Missed Screening" (52 individuals) groups. Metabolic profiles were analyzed using the non-derivatized MS/MS Kit, and genetic mutations were identified via next-generation sequencing and confirmed by Sanger sequencing.
Mol Cancer
January 2025
Molecular Epidemiology (MOLE), Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
VTRNA2-1 is a polymorphically imprinted locus. The proportion of individuals with a maternally imprinted VTRNA2-1 locus is consistently approximately 75% in populations of European origin, with the remaining circa 25% having a non-methylated VTRNA2-1 locus. Recently, VTRNA2-1 hypermethylation at birth was suggested to be a precursor of paediatric acute lymphoblastic leukaemia with biomarker potential.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFSci Rep
January 2025
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
Functional constipation is a common disorder of the gastrointestinal tract in children without specific treatment. Ziziphus jujuba has been used in traditional medicine for various diseases such as constipation. A safe and inexpensive treatment with few side effects can be used as an effective alternative to current medications.
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