Onco-TESE is a useful strategy for cancer patients with a congenital single testis who wish to preserve their fertility.
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| http://dx.doi.org/10.1002/ccr3.3576 | DOI Listing |
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Human organoids for rapid validation of gene variants linked to cochlear malformations.
Hum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
View Article and Find Full Text PDFSonic Hedgehog signaling regulates the optimal differentiation pace from early-stage mesoderm to cardiogenic mesoderm in mice.
Dev Growth Differ
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Division of Anatomy and Developmental Biology, Department of Anatomy, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Sonic Hedgehog (Shh), encoding an extracellular signaling molecule, is vital for heart development. Shh null mutants show congenital heart disease due to left-right asymmetry defects stemming from functional anomaly in the midline structure in mice. Shh signaling is also known to affect cardiomyocyte differentiation, endocardium development, and heart morphogenesis, particularly in second heart field (SHF) cardiac progenitor cells that contribute to the right ventricle, outflow tract, and parts of the atrium.
View Article and Find Full Text PDFHaematopoietic stem cell transplantation in children with inborn errors of immunity: A single centre experience.
Scand J Immunol
January 2025
Department of Pediatric Hematology Oncology & Bone Marrow Transplantation Unit, University of Health Sciences Ankara Bilkent City Hospital, Ankara, Turkey.
This study retrospectively analyzed the outcomes of 61 pediatric patients with inborn errors of immunity (IEI) who underwent hematopoietic stem cell transplantation (HSCT) between 2011 and 2023. Patients were categorized into primary immunodeficiency disorders (PIDD), primary immune dysregulation disorders (PIRD), and congenital defects of phagocyte number or function (CDP). Median ages at diagnosis and HSCT were 9 and 30 months, respectively.
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Crit Care Resusc
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Paediatric Intensive Care Unit, Royal Children's Hospital, Melbourne, VIC, Australia.
Objective: Frusemide is a common diuretic administered to critically ill children intravenously, by either continuous infusion (CI) or intermittent bolus (IB). We aim to describe the characteristics of children who receive intravenous frusemide, patterns of use, and incidence of acute kidney injury (AKI), and to investigate factors associated with commencing CI.
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Pediatric cardiac surgical site infections: A single-center quality improvement initiative.
JTCVS Open
December 2024
Division of Cardiovascular Surgery, Hospital for Sick Children, Toronto, Ontario, Canada.
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