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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFTransamniotic Delivery of Hematopoietic Stem Cells Genetically Modified to Carry a Human Hemoglobin Subunit Beta Gene (HBB) in a Healthy Rodent Model.
J Pediatr Surg
December 2024
Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Background: We sought to determine whether transamniotic stem cell therapy (TRASCET) could be a viable alternative for the fetal administration of genetically modified hematopoietic stem cells (HSCs) carrying a human hemoglobin subunit beta gene (hHBB) in a healthy syngeneic rat model.
Methods: Time-dated pregnant Lewis dams underwent volume-matched intra-amniotic injections in all their fetuses (n = 61) of a suspension of donor HSCs genetically modified with either both a hHBB gene and a firefly luciferase reporter gene (n = 42) or the firefly luciferase reporter gene alone to control for HBB-derived protein interspecies homology (n = 19) on gestational day 17 (E17; term = E21). Donor HSCs consisted of syngeneic cells phenotyped by flow cytometry with successful hHBB transduction confirmed by ELISA prior to administration in vivo.
Prenatal toxicity of L-mimosine in Wistar rats.
Toxicon
December 2024
Department of Pathology, School of Veterinary Medicine and Animal Science, University of São Paulo, São Paulo, S.P., Brazil; Institute of Environmental, Chemical and Pharmaceutical Sciences, Federal University of São Paulo (ICAQF-UNIFESP), Diadema, S.P., Brazil. Electronic address:
L-Mimosine is the main active component of the plant Leucaena leucocephala. Due to its metal-chelating mechanism, it interacts with various metabolic pathways in living organisms, making it a potential pharmacological target, although it also leads to toxicity. The present study aimed to investigate the transplacental passage of L-mimosine and its effects on embryofetal development.
View Article and Find Full Text PDFArticle Synopsis
- Researchers studied the TCRβ and TCRα chain sequences in different thymocyte populations from mouse fetuses and young adults to understand how life-stage affects TCR gene usage.
- They found that the foetal thymocyte populations showed a preference for particular gene segments, exhibiting less diversity and more clonotypic expansions compared to adults, indicating distinct developmental characteristics.
- Interestingly, when young adult thymocytes were treated to synchronize differentiation, they displayed more foetal-like gene usage patterns, suggesting that developmental influences can be manipulated.
Compound-dependent fetal toxicity after in utero exposure to chemotherapy in a pregnant mouse model.
Environ Toxicol Pharmacol
December 2024
Department of Oncology, KU Leuven, Leuven, Belgium; Department of Obstetrics and Gynecology, UZ Leuven, Leuven, Belgium; Gynecologic Oncology, Netherlands Cancer Institute, Anthony Van Leeuwenhoek, Amsterdam, the Netherlands. Electronic address:
Although chemotherapy is integrated in the treatment of second-trimester pregnant cancer patients, its potential cyto- and genotoxicity to fetal tissue remains unknown. To investigate any causal relation between in utero chemotherapy exposure and fetal toxicity, late-gestation pregnant BL6 mice were exposed to vehicle, or one of six chemotherapeutic compounds, used to treat pregnant cases: cyclophosphamide, carboplatin, cisplatin (alkylating agents), epirubicin, doxorubicin (anthracyclines) or paclitaxel (taxane). fetuses were euthanized at gestational day 18.
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