Perinatal hypoxic-ischemic encephalopathy (HIE) represents a major cause of neonatal death or long-term disability. Inflammation plays an important role in mediating brain damage induced by neonatal hypoxic-ischemic encephalopathy. The mechanisms underlying the inflammatory response in hypoxia and ischemia are complex and are still being extensively researched. The objective of this study was to determine the predictive value of peak lactate dehydrogenase (LDH), C-reactive protein (CRP), procalcitonin (PCT) and of the evolution of leukocytes, neutrophils and lymphocytes in the first 96 h after birth for the grade of encephalopathy and neurodevelopmental outcome in newborns with HIE. In order to reveal this relationship we used comparisons between the above mention parameters. The observed hematological changes were nonspecific. The vast majority of the 78 newborns included in the study had PCT values above normal in the first 24 h, contrasting with CRP values that were positive in only 15.8% of the patients. A total of 76.9% of the patients had LDH values higher than the upper limit of normal values. The mean LDH values in patients with an unfavorable prognosis were 1,235 U/l. We can conclude that LDH is a good predictor of HIE in the first 12/24 h after birth.
Plasma-derived factor IX (FIX) concentrate remains an important choice for replacement therapy in haemophilia B patients. Haemonine is a high purity double-virus inactivated human plasma-derived coagulation FIX concentrate (pdFIX). Aim was to evaluate the clinical efficacy, safety and pharmacokinetic properties of Haemonine in three prospective, open-label uncontrolled studies and a compassionate use program in previously treated patients with severe haemophilia B. Long-term efficacy and safety were investigated in 29 patients treated prophylactically and, in addition, treatment on-demand (TOD) in the case of acute haemorrhage. Pharmacokinetic properties were assessed in 14 patients at baseline and after 3 months of regular treatment. Pharmacokinetic parameters were in accordance with published data and remained nearly unchanged over time, notably recovery and half-life. Mean terminal elimination half-life was 27.6 h and 25.0 h, mean incremental recovery (IU dL(-1) /IU kg(-1)) was 1.55 and 1.60, at baseline and 3 months, respectively. Haemonine was shown to be effective in preventing and controlling bleeds. 55.2% (16/29) of patients were free of bleeds under prophylaxis. 38 haemorrhages occurred, 42% (16/38) required treatment and 87.5% (14/16) resolved after a single infusion, 12.5% after 2 infusions. All responses reported on haemorrhages were rated as 'excellent' or 'good'. Moreover, 'excellent' haemostatic efficacy was demonstrated in 12 surgeries with no complications. Few adverse events (AEs) and no thrombogenic complication, nor induction of FIX inhibitory antibodies were observed. Haemonine is effective, safe and well tolerated in long-term prophylaxis, TOD and when applied after minor and major surgeries.
(1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds.
Background: Allogeneic hematopoietic stem cell (allo-HSC) transplantation is used in the treatment of malignant hematological diseases. An important tool in monitoring post-transplantation evolution is represented by the percentage of donor's blood cells found in recipient's blood, known as chimersim. This is useful in predicting the graft rejection and the risk of disease relapse. In this study, we present the importance of multiplex STR markers in chimerism monitoring of a 8 year old girl diagnosed with acute lymphoblastic leukemia (ALL). Methods: In the pre-transplant stage, saliva on buccal swabs and blood samples in EDTA were collected from the donor and recipient and used as reference samples. The DNA extraction from saliva and blood samples was done using the Pure Link Genomic DNA kit (Invitrogen, USA). For the DNA quantification, the Quantifiler Human DNA kit (Applied Biosystems, USA) was used on an ABI 7500 Real-time PCR system (Applied Biosystems, USA). Amplification of the STR markers was performed using the AmpFLSTR NGM SElect kit (Applied Biosystems, USA) on a ProFlex PCR System. The PCR products were separated and detected on an ABI 3500 Genetic Analyzer (Applied Biosytems, USA). Results: One month post-transplantation of HSC, a mixed chimerism (MC) containing 38% of donor's cells was obtained from a bone marrow aspiration sample. On the 45th day, a new transplantation was performed. On the 15th day after 2nd transplantation, a MC with 91% donor's cells was obtained. On the 21st day after the 2nd transplantation, a complete chimerism (CC) with 100% donor's cells was obtained. Conclusions: Chimerism monitoring is useful in identifying those patients in risk for relapse or graft rejection.
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