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European Journal of Pediatrics Aug 2023Delayed cord clamping (DCC) at delivery has well-recognized benefits; however, current scientific guidelines lack uniformity in its definition. This parallel-group,... (Randomized Controlled Trial)
Randomized Controlled Trial
Delayed cord clamping (DCC) at delivery has well-recognized benefits; however, current scientific guidelines lack uniformity in its definition. This parallel-group, three-arm assessor-blinded randomized controlled trial compared the effects of three different timings of DCC at 30, 60, and 120 s on venous hematocrit and serum ferritin levels in late preterm and term neonates not requiring resuscitation. Eligible newborns (n = 204) were randomized to DCC 30 (n = 65), DCC 60 (n = 70), and DCC 120 (n = 69) groups immediately after delivery. The primary outcome variable was venous hematocrit at 24 ± 2 h. Secondary outcome variables were respiratory support, axillary temperature, vital parameters, incidences of polycythemia, neonatal hyperbilirubinemia (NNH), need and duration of phototherapy, and postpartum hemorrhage (PPH). Additionally, serum ferritin levels, the incidence of iron deficiency, exclusive breastfeeding (EBF) rate, and anthropometric parameters were assessed during post-discharge follow-up at 12 ± 2 weeks. Over one-third of the included mothers were anemic. DCC 120 was associated with a significant increase in the mean hematocrit by 2%, incidence of polycythemia, and duration of phototherapy, compared to DCC30 and DCC60; though the incidence of NNH and need for phototherapy was similar. No other serious neonatal or maternal adverse events including PPH were observed. No significant difference was documented in serum ferritin, incidences of iron deficiency, and growth parameters at 3 months even in the presence of a high EBF rate. Conclusion: The standard recommendation of DCC at 30-60 s may be considered a safe and effective intervention in the busy settings of low-middle-income countries with a high prevalence of maternal anemia. Trial registration: Clinical trial registry of India (CTRI/2021/10/037070). What is Known: • The benefits of delayed cord clamping (DCC) makes it an increasingly well-accepted practice in the delivery room. • However, uncertainty continues regarding the optimal timing of clamping; this may be of concern both in the neonate and the mother. What is New: • DCC at 120 s led to higher hematocrit, polycythemia and longer duration of phototherapy, without any difference in serum ferritin, and incidence of iron deficiency. • DCC at 30-60 s may be considered a safe and effective intervention in LMICs.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Infant, Premature; Polycythemia; Aftercare; Umbilical Cord Clamping; Patient Discharge; Anemia; Iron Deficiencies; Hyperbilirubinemia, Neonatal; Constriction; Ferritins; Umbilical Cord; Delivery, Obstetric
PubMed: 37278737
DOI: 10.1007/s00431-023-05053-6 -
Endocrine-related Cancer Aug 2024In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a... (Review)
Review
In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGLs), polycythemia, and somatostatinoma. Since then, a limited number of studies on this subject have been reported, and data on the long-term outcome of metastatic disease are not available on this rare syndrome. We comprehensively reviewed EPAS1-related PPGL and describe an unusual patient who has been living with an EPAS1-related metastatic PPGL for 47 years. The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes. PPGLs are the most common manifestation followed by polycythemia and somatostatinoma. The EPAS1 pathogenic variants are often postzygotic, and the timing of their acquirement during embryonic development seems to correlate with the number and timing of development of the disease manifestations. Although recurrent and multifocal disease is common in EPAS1-related PPGL, distant metastases are uncommon and usually indolent. This is illustrated by a case of a man who was diagnosed at the age of 9 years and is currently 56 years old, alive, and well for 47 years with these metastases. He was found to have a somatic EPAS1 pathogenic variant (c.1592C>A, p.Pro531His) in bilateral pheochomocytoma and a pancreatic NET (somatostatinoma) but not in genomic DNA isolated from peripheral leukocytes. This and previous reports suggest that distant metastases are uncommon and less aggressive in EPAS1-related PPGLs compared to those found in other hereditary PPGLs.
Topics: Humans; Male; Middle Aged; Adrenal Gland Neoplasms; Basic Helix-Loop-Helix Transcription Factors; Paraganglioma; Pheochromocytoma
PubMed: 38767322
DOI: 10.1530/ERC-23-0303 -
Journal of the Advanced Practitioner in... Jul 2023Polycythemia vera is a Philadelphia chromosome-negative myeloproliferative neoplasm that results in increased myeloproliferation. It is a debilitating disease... (Review)
Review
Polycythemia vera is a Philadelphia chromosome-negative myeloproliferative neoplasm that results in increased myeloproliferation. It is a debilitating disease characterized by the overproduction of red blood cells, but it also can result in increased white blood cells and platelets. Patients experience a shortened overall survival due to an increased risk of thrombotic events, including stroke, myocardial infarction, pulmonary embolism, and deep vein thrombosis. Current treatment strategies in clinical practice are driven by mitigating the risk of these thrombotic events by reducing patients' hematocrit. In addition to thrombosis risk, polycythemia vera patients have constitutional symptoms such as fatigue, itching, bone pain, erythromelalgia, and splenomegaly. An increased risk of transformation of their disease to acute myeloid leukemia and/or myelofibrosis can also affect long-term survival in polycythemia vera. Additional research has identified other risk factors, such as increased white blood cells, increased platelet count, and cytokine levels, which can alter the prognosis of the disease. In this review, we will discuss the current treatment strategies in polycythemia vera and determine if incorporating additional biomarkers as endpoints is feasible in clinical practice.
PubMed: 37576360
DOI: 10.6004/jadpro.2023.14.5.5 -
Cancer Dec 2023The rapid pace of drug development in hematology has led to multiple approvals for myelofibrosis (MF) and polycythemia vera (PV) in recent years. Moreover, there are...
The rapid pace of drug development in hematology has led to multiple approvals for myelofibrosis (MF) and polycythemia vera (PV) in recent years. Moreover, there are many innovative agents and combinations being explored for myeloproliferative neoplasms (MPNs). In the past year, there have been several advances in MF, PV, and essential thrombocythemia. In MF, investigational approaches are focusing on strategies to optimize inhibition of signal transduction (including JAK inhibition), modify epigenetics, enhance apoptosis, target DNA replication, transform host immunity, and/or alter the tumor microenvironment. In PV, ropeginterferon alfa-2b has been introduced to the market in the United States, and data continue to accumulate to support the safety and efficacy of this treatment. Hepcidin mimesis is also emerging as a novel way to treat erythrocytosis. In essential thrombocythemia, ropeginterferon alfa-2b is being evaluated, as are therapies to modify epigenetics and inhibit CALR. The enhanced focus on MPNs brings hope that our field can improve morbidity and mortality in this group of diseases.
Topics: Humans; United States; Thrombocythemia, Essential; Myeloproliferative Disorders; Polycythemia Vera; Primary Myelofibrosis; Signal Transduction; Tumor Microenvironment
PubMed: 37768996
DOI: 10.1002/cncr.35028