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An Atypical Case of Neonatal Alloimmune Thrombocytopenia.
J Pediatr Hematol Oncol
January 2025
Departments of Laboratory Medicine.
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) results from maternal antibodies targeting fetal platelets during pregnancy, often causing hemorrhagic manifestations detectable antenatally or shortly after birth. We report an atypical form of FNAIT with delayed onset in a healthy, breastfed male infant who developed diffuse petechiae 2 weeks after birth due to severe thrombocytopenia. The mother was shown to be negative for the human platelet antigen-1a (HPA-1a) allele but had anti-HPA-1a IgG antibodies, while the father and newborn were HPA-1a positive, confirming the diagnosis.
View Article and Find Full Text PDFEfficacy and tolerability of celastrol and edaravone in the multiple-hit rat model of infantile spasms.
Epilepsy Behav
January 2025
Albert Einstein College of Medicine, Saul R. Korey Department of Neurology, Laboratory of Developmental Epilepsy, Albert Bronx, NY, USA; Isabelle Rapin Division of Child Neurology, Albert Einstein College of Medicine, Bronx, NY, USA; Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA. Electronic address:
Objective: To test whether anti-inflammatory and antioxidant drugs that inhibit the nuclear factor kappa light chain enhancer of activated B cells (NF-kB), celastrol and edaravone, suppress spasms and improve developmental outcomes in the multiple-hit rat model of refractory infantile spasms (IS) due to structural lesions.
Methods: Postnatal day 3 (PN3) Sprague-Dawley rats were treated according to the multiple-hit IS model protocol. Using a randomized, blinded, vehicle-controlled, dose- and time-response study design, we tested the effects of single celastrol [1, 2, or 4 mg/kg intraperitoneally (i.
Cure of Congenital Purpura Fulminans via Expression of Engineered Protein C Through Neonatal Genome Editing in Mice.
Arterioscler Thromb Vasc Biol
December 2024
Department of Biochemistry, Jichi Medical University School of Medicine, Tochigi, Japan (T.T., N.B., Y.K., M.H., T.H., T.O.).
Article Synopsis
- PC is a crucial plasma anticoagulant, and mutations in both alleles can lead to a serious condition called neonatal purpura fulminans.
- The study developed a genome editing approach using engineered activated protein C (APC) to treat congenital PC deficiency by expressing it in mouse liver through adeno-associated virus vectors and CRISPR/Cas9.
- Results showed that the engineered APC prolonged coagulation time, inhibited harmful thrombus formation, and improved the survival of PC-deficient mice, indicating its potential as a cure for this severe condition.
Clinical implications of genetic testing for congenital protein C deficiency in pregnancy.
J Obstet Gynaecol Res
December 2024
Nara Medical University, Department of obstetrics and gynecology, Kashihara, Nara, Japan.
Congenital protein C (PC) deficiency is a mostly autosomal dominant hereditary thrombophilia associated with early onset arterial and venous thrombotic diseases. In newborns, PC deficiency results in severe complications such as cerebral hemorrhage, cerebral infarction, and purpura fulminans, leading to death in some cases. We report two cases of deep vein thrombosis diagnosed during pregnancy that prompted genetic testing confirming definitive congenital PC deficiency.
View Article and Find Full Text PDFImmune Thrombocytopenic Purpura and Maternal and Neonatal Outcomes During Pregnancy: A Systematic Review and Meta-Analysis.
Am J Reprod Immunol
November 2024
Department of Obstetrics, Central Hospital affiliated to Shandong First Medical University, Jinan, Shandong, China.
Immune thrombocytopenic purpura (ITP) affects 1-3 out of every 10 000 pregnancies, posing significant risks to both mothers and newborns. The condition often requires careful management to prevent severe hemorrhagic events. PubMed, Embase, Scopus, and Web of Science searched for relevant literature until June 2024.
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