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Cancers Jun 2021Multiple recurrent somatic mutations have recently been identified in association with myeloproliferative neoplasms (MPN). This meta-analysis aims to assess the pooled... (Review)
Review
Multiple recurrent somatic mutations have recently been identified in association with myeloproliferative neoplasms (MPN). This meta-analysis aims to assess the pooled prevalence of gene mutations among patients with MPN. Six databases (PubMed, Scopus, ScienceDirect, Google Scholar, Web of Science and Embase) were searched for relevant studies from inception till September 2020, without language restrictions. The eligibility criteria included --negative MPN adults with gene mutations. A random-effects model was used to estimate the pooled prevalence with 95% confidence intervals (CIs). Subgroup analyses explored results among different continents and countries, WHO diagnostic criteria, screening methods and types of MF. Quality assessment was undertaken using the Joanna Briggs Institute critical appraisal tool. The study was registered with PROSPERO (CRD42020212223). Thirty-five studies were included ( = 5121, 47.1% female). Overall, the pooled prevalence of gene mutations in MPN patients was 15.5% (95% CI: 12.1-19.0%, = 94%). Regional differences explained a substantial amount of heterogeneity. The prevalence of gene mutations among the three subtypes PV, ET and MF were 16.8%, 9.8% and 15.7%, respectively. The quality of the included studies was determined to be moderate-high among 83% of the included studies. Among patients with --negative MPN, the overall prevalence of gene mutations was 15.5%.
PubMed: 34203097
DOI: 10.3390/cancers13123078 -
Transplant International : Official... Nov 2021Post-transplant erythrocytosis (PTE) can occur in up to 10-16% after kidney transplant (KT). However, the post-transplant outcomes of recipients with PTE in the... (Meta-Analysis)
Meta-Analysis
Post-transplant erythrocytosis (PTE) can occur in up to 10-16% after kidney transplant (KT). However, the post-transplant outcomes of recipients with PTE in the literature were conflicting. We performed systematic review and meta-analysis of published studies to evaluate risk factors of PTE as well as outcomes of recipients who developed PTE compared with controls. A literature search was conducted evaluating all literature from existence through February 2, 2021, using MEDLINE and EMBASE. Data from each study were combined using the random-effects model. (PROSPERO: CRD42021230377). Thirty-nine studies from July 1982 to January 2021 were included (7,099 KT recipients). The following factors were associated with PTE development: male gender (pooled RR = 1.62 [1.38, 1.91], I = 39%), deceased-donor KT (pooled RR = 1.18 [1.03, 1.35], I = 32%), history of smoking (pooled RR = 1.36 [1.11, 1.67], I = 13%), underlying polycystic kidney disease (PKD) (pooled RR=1.56 [1.21, 2.01], I =44%), and pretransplant dialysis (pooled RR=1.6 [1.02, 2.51], I =46%). However, PTE was not associated with outcomes of interest, including overall mortality, death-censored graft failure, and thromboembolism. Our meta-analysis demonstrates that male gender, deceased-donor KT, history of smoking, underlying PKD, and pretransplant dialysis were significantly associated with developing PTE. However, with proper management, PTE has no impact on prognosis of KT patients.
Topics: Adult; Humans; Kidney Transplantation; Male; Polycythemia; Risk Factors; Transplant Recipients; Transplants
PubMed: 34412165
DOI: 10.1111/tri.14016 -
Clinical Genetics Feb 2013This systematic review investigated the inheritance of the classical chronic myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential... (Review)
Review
This systematic review investigated the inheritance of the classical chronic myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic myelogenous leukemia (CML). Sixty-one articles were included and provided 135 families with a total of 341 participants distributed to various subtypes of MPN: 50% PV, 23% ET, 14% PMF, 10% CML and 3% non-MPN hematological disorder. Women developed the disease earlier than men (43.1 years vs 47.3 years; p = 0.074), while the general average age of onset was 46 years, notably younger than sporadic cases. The clinical phenotype of the families showed a homogenous (67%) and a heterogeneous (33%) pattern, with the majority being PV-PV pairs (36%) and PV-PMF pairs (17%), respectively. This observation suggests that the susceptibility gene (or genes) is not restricted to one subtype supporting the hypothesis of a mutation in an early multipotent stem cell. Furthermore, a major subgroup of families provided evidence of an autosomal dominant (AD) inheritance with reduced penetrance. This study suggests that the origin of MPNs may occur in at least three different settings: (i) a sporadic, (ii) genetic heterogeneity with polygenetic and environmental impact and (iii) a familial phenotype following an AD inheritance.
Topics: Chronic Disease; Female; Genetic Predisposition to Disease; Humans; Inheritance Patterns; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Male; Myeloproliferative Disorders; Polycythemia Vera; Primary Myelofibrosis; Thrombocythemia, Essential
PubMed: 23094849
DOI: 10.1111/cge.12044 -
Journal of Nuclear Medicine : Official... Mar 2019We performed a systematic review and metaanalysis of the performance of Ga-DOTA-conjugated somatostatin receptor-targeting peptide (Ga-DOTA-SST) PET in the detection of... (Meta-Analysis)
Meta-Analysis
We performed a systematic review and metaanalysis of the performance of Ga-DOTA-conjugated somatostatin receptor-targeting peptide (Ga-DOTA-SST) PET in the detection of pheochromocytomas and paragangliomas (PPGLs). PubMed and Embase were searched until May 8, 2018. We included studies that reported the detection rate of Ga-DOTA-SST PET in patients with PPGLs. Detection rates were pooled using a random-effects model. Subgroup analyses and metaregression were performed to explore the cause of heterogeneity. Thirteen studies were included for qualitative synthesis. Per-lesion detection rates of Ga-DOTA-SST PET were consistently higher (ranging from 92% to 100%) than other imaging modalities, including F-fluorohydroxyphenylalanine (F-FDOPA) PET, F-FDG PET, and I-metaiodobenzylguanidine (I-MIBG) scintigraphy. However, in patients with polycythemia/paraganglioma syndrome, the detection rate of Ga-DOTA-DOTATATE PET was 35%. Nine studies (215 patients) with no specific inclusion criteria for subtype were quantitatively synthesized. The pooled detection rate was 93% (95% confidence interval [CI], 91%-95%), which was significantly higher than that of F-FDOPA PET (80% [95% CI, 69%-88%]), F-FDG PET (74% [95% CI, 46%-91%]), and I-MIBG scan (38% [95% CI, 20%-59%], < 0.001 for all). A greater prevalence of head and neck paragangliomas was associated with higher detection rates of Ga-DOTA-SST PET ( = 0.0002). Ga-DOTA-SST PET exhibited superior performance for lesion detection, over other functional imaging modalities, in patients with PPGLs, with the exception of polycythemia/paraganglioma syndrome. This might suggest Ga-DOTA-SST PET as a first-line imaging modality for the primary staging of PPGL or the restaging of PPGL with unknown genetic status.
Topics: Adrenal Gland Neoplasms; Gallium Radioisotopes; Heterocyclic Compounds, 1-Ring; Humans; Paraganglioma; Peptides; Pheochromocytoma; Receptors, Somatostatin
PubMed: 30030341
DOI: 10.2967/jnumed.118.211706 -
Diagnostics (Basel, Switzerland) Jan 2023Philadelphia-negative myeloproliferative neoplasms (MPN) are most prevalent in the older population (median age at the diagnosis is above 60 years) and rarely diagnosed... (Review)
Review
BACKGROUND
Philadelphia-negative myeloproliferative neoplasms (MPN) are most prevalent in the older population (median age at the diagnosis is above 60 years) and rarely diagnosed in pediatrics. Thus, our knowledge about the clinical presentation, mutational status, and complications of MPNs in pediatrics is limited.
METHODS
The literature in English (PubMed, SCOPUS, and Google Scholar) was searched for studies, reviews, case series, and case reports of patients with Philadelphia-negative MPNs (including essential thrombocythemia, polycythemia vera, primary myelofibrosis, and profibrotic myelofibrosis) in the pediatrics age group (less than 18 years). Only studies that fulfilled WHO 2008 or 2016 criteria for MPNs were included. We aimed to describe the clinical characteristics, vascular and long-term complications, types of driver mutations, and treatment approaches in pediatric patients with MPNs.
RESULTS
We reviewed 33 articles of available published literature from 2008 to 2022 and collected data from a total of 196 patients of the pediatric population. Among the cohort of patients, 139 had essential thrombocythemia (ET), 20 had polycythemia vera (PV), and 37 had primary myelofibrosis (PMF). The median age at the time of diagnosis for each disease varied, with 8.8 years for ET, 10 years for PV, and 3.6 years for MF. There was a slight difference in gender prevalence between both gender groups and all three diseases. The presenting symptoms were not mentioned in more than 50% of studies. We found that JAK2 was the most prevalent among all mutations. Both bleeding and thrombosis were present equally in ET, with 9% of cases complicated by bleeding and 9% complicated by thrombosis. Hemorrhagic events did not occur in patients with PV; thrombosis in children with MF was also not found. The progression into AML occurred in two patients with PV and one with ET.
CONCLUSION
Given the rarity of MPNs in pediatrics and their different characteristics compared with adults, we believe there is a need for unique diagnostic criteria to match the different molecular statuses in pediatrics. Based on our review, the incidence of MPN complications in pediatrics, including thrombotic events, hemorrhage, and leukemic transformation, differs from that in adults.
PubMed: 36766480
DOI: 10.3390/diagnostics13030377 -
European Journal of Gastroenterology &... Jan 2015Until now, no data on the routine screening for thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis (PVT) have been... (Observational Study)
Observational Study Review
BACKGROUND
Until now, no data on the routine screening for thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis (PVT) have been reported.
METHODS
A total of 141 nonmalignant and noncirrhotic patients with PVT who underwent screening tests for thrombotic risk factors between September 2009 and August 2012 were included in this study.
RESULTS
The JAK2 V617F mutation was found in 35 of the 141 patients tested. Neither the JAK2 exon 12 mutation nor the MPL W515 L/K mutation was found in any of the 50 patients tested. Overt myeloproliferative neoplasms (MPNs) were diagnosed in 13 patients (polycythemia vera, n=1; essential thrombocythemia, n=9; idiopathic myelofibrosis, n=3). Latent MPNs were considered in 23 patients with the JAK2 V617F mutation but without any significant abnormalities, as determined through regular blood tests. Anticardiolipin IgG antibodies were positive in none of the 136 patients tested. Paroxysmal nocturnal hemoglobinuria was not found in any of the 141 patients tested. Neither the factor V G1691A mutation nor the factor II G20210A mutation was found in any of the 72 patients tested. The C677T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) was found in 29 of the 38 patients tested. Hyperhomocysteinemia was detected in eight of the 39 patients tested.
CONCLUSION
MPNs are an important thrombotic risk factor in Chinese patients with PVT. However, the extreme rarity of paroxysmal nocturnal hemoglobinuria, anticardiolipin IgG antibodies, and factor V G1691A and factor II G20210A mutations has precluded any support for the implementation of routine screening for these thrombotic factors in such patients. Additional case-control studies should confirm the role of the MTHFR C677T mutation and hyperhomocysteinemia in the pathogenesis of PVT.
Topics: Adult; Antibodies, Anticardiolipin; China; Exons; Factor V; Female; Hemoglobinuria, Paroxysmal; Humans; Hyperhomocysteinemia; Janus Kinase 2; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Myeloproliferative Disorders; Portal Vein; Prothrombin; Risk Factors; Venous Thrombosis
PubMed: 25426980
DOI: 10.1097/MEG.0000000000000221 -
The Journal of Allergy and Clinical... 2018The idiopathic systemic capillary leak syndrome is a rare disease characterized by unexplained recurrent shock caused by capillary hyperpermeability. Because of the...
BACKGROUND
The idiopathic systemic capillary leak syndrome is a rare disease characterized by unexplained recurrent shock caused by capillary hyperpermeability. Because of the rarity of the disease, this disease has easily been misdiagnosed and evidence of efficacious agents used empirically is lacking.
OBJECTIVE
To analyze the clinical and laboratory data, treatment modalities, and mortality rate of patients and to find contributing factors leading to mortality.
METHODS
We searched MEDLINE (inception to December 2016) and reviewed reference lists of previous systematic reviews. A total of 133 case reports (161 patients) and 5 case series (102 patients) of idiopathic systemic capillary leak syndrome were included.
RESULTS
Patients had hypotension (81.4%), edema (64.6%), and previous flu-like illness (34.2%). This disease was misdiagnosed as hypovolemic shock, septic shock, polycythemia vera, or angioedema. Thirty-seven patients died (23%) mainly because of systemic capillary leak syndrome itself (78.4%). There were significant differences in the survival rates between patients who were treated with prophylactic β2 agonists, methylxanthines, and intravenous immunoglobulins and those who were not. The estimated 1-, 5-, and 10-year survival rate of patients treated with intravenous immunoglobulins was 100%, 94%, and 94%, respectively.
CONCLUSIONS
We systematically analyzed in detail clinical presentations of all reported patients and identified various factors associated with mortality and effects of prophylactic treatment in idiopathic systemic capillary leak syndrome. The findings of this review will facilitate diagnostic approaches of idiopathic systemic capillary leak syndrome and aid in the selection of treatment.
Topics: Capillary Leak Syndrome; Humans; Prognosis
PubMed: 28939140
DOI: 10.1016/j.jaip.2017.07.021 -
The Journal of Urology Jan 2022We sought to compare testosterone formulations and determine the degree that hematocrit increases vary by testosterone therapy formulation. As head-to-head trials are... (Comparative Study)
Comparative Study Meta-Analysis
PURPOSE
We sought to compare testosterone formulations and determine the degree that hematocrit increases vary by testosterone therapy formulation. As head-to-head trials are rare, network meta-analysis of the contemporary studies is the only way to compare hematocrit changes by testosterone type, including topical gels and patches, injectables (both short-acting and long-acting) and oral tablets.
MATERIALS AND METHODS
We conducted a thorough search of listed publications in Scopus®, PubMed®, Embase®, Cochrane CENTRAL, and ClinicalTrials.gov. A total of 29 placebo-controlled randomized trials (3,393 men) met inclusion criteria for analysis of mean hematocrit change after testosterone therapy. Randomized controlled trial data for the following formulations of testosterone were pooled via network meta-analysis: gel, patch, oral testosterone undecanoate, intramuscular testosterone undecanoate, and intramuscular testosterone enanthate/cypionate.
RESULTS
All types of testosterone therapies result in statistically significant increases in mean hematocrit when compared with placebo. Meta-analysis revealed all formulations, including gel (3.0%, 95% CI 1.8-4.3), oral testosterone undecanoate (4.3%, 0.7-8.0), patch (1.4%, 0.2-2.6), intramuscular testosterone enanthate/cypionate (4.0%, 2.9-5.1), and intramuscular testosterone undecanoate (1.6%, 0.3-3.0) result in statistically significant increases in mean hematocrit when compared with placebo. When comparing all formulations against one another, intramuscular testosterone cypionate/enanthate were associated with a significantly higher increase in mean hematocrit compared to patch, but no differences in hematocrit between other formulations were detected.
CONCLUSIONS
All types of testosterone are associated with increased hematocrit; however, the clinical concern of this increase remains questionable, warranting future studies. This is the first network meta-analysis to quantify mean hematocrit change and compare formulations, given the absence of head-to-head trials.
Topics: Bayes Theorem; Drug Administration Routes; Drug Compounding; Hematocrit; Humans; Network Meta-Analysis; Randomized Controlled Trials as Topic; Testosterone
PubMed: 34445892
DOI: 10.1097/JU.0000000000002188 -
Acta Obstetricia Et Gynecologica... Jun 2024Twin-twin transfusion syndrome (TTTS) complicates approximately 10%-15% of all monochorionic twin pregnancies. The aim of this review was to evaluate the placental... (Review)
Review
Placental architectural characteristics following laser ablation within monochorionic twins complicated by twin-twin transfusion syndrome: A systematic review and meta-analysis of outcomes.
INTRODUCTION
Twin-twin transfusion syndrome (TTTS) complicates approximately 10%-15% of all monochorionic twin pregnancies. The aim of this review was to evaluate the placental architectural characteristics within TTTS twins following laser and elucidate their impact on fetal outcomes and operative success.
MATERIAL AND METHODS
Five databases were searched from inception to August 2023. Studies detailing post-delivery placental analysis within TTTS twins post-laser were included. Studies were categorized into two main groups: (1) residual anastomoses following laser and (2) abnormal cord insertion: either velamentous and/or marginal or proximate. The primary outcome was to determine the proportion of TTTS placentas with residual anastomoses and abnormal cord insertions post-laser. Secondary outcomes included assessing residual anastomoses on post-laser fetal outcomes and assessing the relationship between abnormal cord insertion and TTTS development. Study bias was critiqued using the Joanna Briggs Institute checklists and Cochrane risk of bias tool. Random-effects meta-analysis was used, and results were reported as pooled proportions or odds ratio (OR) with 95% confidence interval (CI). PROSPERO registration: CRD42023476875.
RESULTS
Twenty-six studies, comprising 4013 monochorionic twins, were included for analysis. The proportion of TTTS placentas with residual anastomoses following laser was 24% (95% CI, 0.12-0.41), with a mean and standard deviation of 4.03 ± 2.95 anastomoses per placenta. Post-laser residual anastomoses were significantly associated with intrauterine fetal death (OR, 2.38 [95% CI, 1.33-4.26]), neonatal death (OR, 3.37 [95% CI, 1.65-6.88]), recurrent TTTS (OR, 24.33 [95% CI, 6.64-89.12]), and twin anemia polycythemia sequence (OR, 13.54 [95% CI, 6.36-28.85]). Combined abnormal cord (velamentous and marginal), velamentous cord, and marginal cord insertions within one or both twins following laser were reported at rates of 49% (95% CI, 0.39-0.59), 27% (95% CI, 0.18-0.38), and 28% (95% CI, 0.21-0.36), respectively. Combined, velamentous and marginal cord insertions were not significantly associated with TTTS twins requiring laser (p = 0.72, p = 0.38, and p = 0.71, respectively) versus non-TTTS monochorionic twins.
CONCLUSIONS
To the best of our knowledge, this is the first review to conjointly explore outcomes of residual anastomoses and abnormal cord insertions within TTTS twins following laser. A large prospective study is necessitated to assess the relationship between abnormal cord insertion and residual anastomoses development post-laser.
PubMed: 38873725
DOI: 10.1111/aogs.14891 -
Annals of Tropical Paediatrics Mar 2004This review evaluates the potential of delayed cord-clamping for improving iron status and reducing anaemia in term infants and for increasing the risk of polycythaemia... (Meta-Analysis)
Meta-Analysis Review
This review evaluates the potential of delayed cord-clamping for improving iron status and reducing anaemia in term infants and for increasing the risk of polycythaemia and hyperbilirubinaemia. We applied a strict search protocol to identify controlled trials of early vs late cord-clamping. Four trials from developing and four from industrialised countries were finally assessed. Two of the four studies from developing countries found a significant difference in infant haemoglobin levels at 2-3 months of age in favour of delayed cord-clamping. This difference was more marked when mothers were anaemic. Three of four studies from industrialised countries showed a significant difference in haematocrit levels in favour of delayed clamping. Although meta-analysis showed an increased risk for hyperbilirubinaemia of 12%, no studies reported the need to apply phototherapy or perform exchange transfusion. We conclude that delayed cord-clamping in term infants, especially those with anaemic mothers, increases haemoglobin concentration in infants at 2-3 months of age and reduces the risk of anaemia, without an associated increased risk of perinatal complications. In developing countries where fetal anaemia is common, the advantages of delayed cord-clamping might be especially beneficial.
Topics: Anemia, Iron-Deficiency; Anemia, Neonatal; Constriction; Developed Countries; Developing Countries; Humans; Infant, Newborn; Polycythemia; Randomized Controlled Trials as Topic; Reproducibility of Results; Time Factors; Umbilical Cord
PubMed: 15005961
DOI: 10.1179/027249304225013286