Mapping Thrombosis Serum Markers by H-NMR Allied with Machine Learning Tools.

Machine learning and artificial intelligence tools were used to investigate the discriminatory potential of blood serum metabolites for thromboembolism and antiphospholipid syndrome (APS). H-NMR-based metabonomics data of the serum samples of patients with arterial or venous thromboembolism (VTE) without APS (n = 32), thrombotic primary APS patients (APS, n = 32), and healthy controls (HCs) (n = 32) were investigated. Unique metabolic profiles between VTE and HCs, APS and HCs, and between VTE and triple-positive APS groups were indicative of the significant alterations in the metabolic pathways of glycolysis, the TCA cycle, lipid metabolism, and branched-chain amino acid (BCAA) metabolism, and pointed to the complex pathogenesis mechanisms of APS and VTE.

Association between Portal Vein Thrombosis after Umbilical Vein Catheterization and Neonatal Asphyxia.

Introduction: Neonatal portal vein thrombosis (PVT) is frequently related to umbilical venous catheterization (UVC), but risk factors remain unclear. This study aims to analyze the variables associated to PVT in near- to full-term newborns with UVC, with a focus on newborns exposed to controlled therapeutic hypothermia (CTH) for hypoxic ischemic encephalopathy (HIE).

Methods: This is retrospective cohort study of infants delivered at or after 36 weeks and with a birthweight over 1,500 g.

Gene therapy for primary myopathies: literature review and prospects.

Gene therapy has emerged as a promising frontier in the pursuit of effective treatments for primary myopathies. This scientific review explores the application of viral vectors and more specifically of recombinant adeno-associated virus (rAAV) vectors as a potent gene delivery tool in the context of primary myopathies, highlighting its transformative potential. Focusing on primary myopathies, including Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophies (LGMDs), X-linked myotubular myopathy (XLMTM), and Pompe disease, we review the ongoing pre-clinical and clinical trials that underscore the therapeutic promise of rAAV-based gene therapies.

Lower platelet count and metastatic tumor are associated with increased risk of spontaneous bleeding in critically ill patients with cancer: An observational study.

Background: Thrombocytopenia is common in critically ill patients with cancer. However, the association of platelet count with spontaneous bleeding is controversial in critically ill patients and the association with cancer-related characteristics is unknown.

Methods: This observational study includes patients with active cancer and severe thrombocytopenia.

Neurological manifestations in thrombotic microangiopathy: Imaging features, risk factors and clinical course.

Background And Purpose: Thrombotic microangiopathy (TMA) is a group of microvascular occlusive disorders that presents with neurological involvement in up to 87% of the cases. Although the central nervous system (CNS) is an important target organ in TMA, the role of neurological manifestations in the disease clinical course is not well established. In this study, we described the neurological manifestations and CNS radiological aspects in patients with a first, acute TMA event.

Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.

Introduction: Prenatal diagnosis of bone and mineralization anomalies is associated with a wide range of etiologies and prognoses. The improvement of antenatal ultrasound combined with the development of molecular diagnosis in genetics has transformed antenatal medicine into a challenging discipline. Of the various known causes of bone abnormalities and hypomineralization, calcium and phosphate metabolism disorders are exceptional.

Adenosine Blood Level: A Biomarker of White Matter Damage in Very Low Birth Weight Infants.

Background: Very low birth weight infants are at risk of developing periventricular white matter lesions. We previously reported high blood adenosine levels in premature infants and infants with low birth weight. We asked whether blood adenosine levels could be related to the vulnerability of the maturing white matter to develop lesions.

Impact of Fetal Growth Restriction on the Neonatal Microglial Proteome in the Rat.

Microglial activation is a key modulator of brain vulnerability in response to intra-uterine growth restriction (IUGR). However, the consequences of IUGR on microglial development and the microglial proteome are still unknown. We used a model of IUGR induced by a gestational low-protein diet (LPD) in rats.

A retrospective analysis of 122 immune thrombocytopenia patients treated with dapsone: Efficacy, safety and factors associated with treatment response.

Background: The optimum second-line treatment or best sequence of treatments for immune thrombocytopenia (ITP) are yet to be determined. Our institution has accumulated extensive experience regarding the use of dapsone as second-line therapy for ITP.

Objectives: We aimed to assess the efficacy rate and safety of dapsone treatment in ITP patients.

Aquatic exercise in patients with haemophilia: Electromyographic and functional results from a prospective cohort study.

Introduction: Recurrent joint bleeds in haemophilia patients often cause musculoskeletal changes leading to functional capacity impairment.

Aim: In this study, we assessed the effects of aquatic activities performed to improve functional capacity in these patients.

Methods: The interventional protocol consisted of 24 hydrotherapy sessions during three months, in comparison with 24 swimming sessions.

From Hemophilia to Deep Venous Thrombosis Patient Samples: How to Perform an Easy Coagulometer Validation Process According to Available Guidelines.

Validation protocols for the evaluation of coagulometers are needed to help professionals select the most suitable system for their regular laboratory routines. The objective of this study was to show how high standard protocols for the coagulometer validation process can fit into the daily laboratory routine. For this study, 45 healthy individuals and 112 patient samples were analyzed.

In-line filtration in very preterm neonates: a randomized controlled trial.

In-line filtration is increasingly used in critically-ill infants but its benefits, by preventing micro-particle infusion in very preterm neonates, remain to be demonstrated. We conducted a randomized controlled trial among very preterm infants allocated to receive either in-line filtration of all the intra-venous lines or standard care without filters. The primary outcome was differences greater than 20% in the median changes in pro-inflammatory cytokine serum concentrations measured at day 3 and day 8 (+/-1) using a Luminex multianalytic profiling technique.

Low prevalence of Post-thrombotic syndrome in patients treated with rivaroxaban.

Post-thrombotic syndrome (PTS) is a complication of deep vein thrombosis (DVT). Residual vein thrombus (RVT) on Doppler Ultrasound can be associated with PTS. Limited data are available on the effect of direct oral anticoagulants (DOACs) on the long-term outcome of PTS.

Prolonged APTT of unknown etiology: A systematic evaluation of causes and laboratory resource use in an outpatient hemostasis academic unit.

Background: A prolonged activated partial thromboplastin time (APTT) of unknown cause is one of the most frequent reasons why outpatients are referred for hemostasis consultation. Nevertheless, very few data are available on the relative contribution of individual causes of this common clinical scenario. Here, we present a systematic evaluation of all causes of APTT prolongation in a consecutive population of outpatients referred for specialized hemostasis consultation during a 14-year period.

Cord blood procalcitonin level and early-onset sepsis in extremely preterm infants.

Early-onset neonatal sepsis (EOS) is observed in 1.7% of extremely preterm infants, with high morbidity and mortality rate. Cord blood procalcitonin (PCT) is a sensitive marker of EOS in full-term newborns, but it has been rarely studied in premature infants.

Melatonin Levels in Preterm and Term Infants and Their Mothers.

The prevention of perinatal brain damage following preterm birth remains a public health priority. Melatonin has been shown to be a promising neuroprotectant in neonatal preclinical models of brain damage, but few studies have investigated melatonin secretion in newborns. We hypothesized that melatonin circulating levels would be lower in preterm compared to term infants.

Oxytocin receptor agonist reduces perinatal brain damage by targeting microglia.

Prematurity and fetal growth restriction (FGR) are frequent conditions associated with adverse neurocognitive outcomes. We have previously identified early deregulation of genes controlling neuroinflammation as a putative mechanism linking FGR and abnormal trajectory of the developing brain. While the oxytocin system was also found to be impaired following adverse perinatal events, its role in the modulation of neuroinflammation in the developing brain is still unknown.

Circulating levels of tissue factor and the risk of thrombosis associated with antiphospholipid syndrome.

The mechanisms behind the severe hypercoagulable state in antiphospholipid syndrome (APS) have not yet been fully elucidated. Knowledge on the etiology of thrombosis in APS is needed to improve treatment. We performed a case control study to evaluate the association of the levels of circulating tissue factor (TF) with thrombotic APS and unprovoked venous thromboembolism (VTE), as compared with controls without a history of thrombosis.

Modulation of Microglial Activation by Adenosine A2a Receptor in Animal Models of Perinatal Brain Injury.

Neuroinflammation has a key role in the pathogenesis of perinatal brain injury. Caffeine, a nonspecific antagonist of adenosine receptors (ARs), is widely used to treat apnea of prematurity and has been linked to a decrease in the incidence of cerebral palsy in premature infants. The mechanisms explaining its neuroprotective effect have not yet been elucidated.