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Neuroradiology Jul 2024To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence...
PURPOSE
To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) prenatally diagnosed, so to characterize the potential intracranial complications associated with this condition, their frequency and potential treatment options.
METHODS
This is a retrospective study of MC twin pregnancies complicated by TAPS and undergone fetal MRI in a single institution from 2006 to 2023. MRI control was performed and post-natal ultrasound (US) or MRI were available.
RESULTS
1250 MC pregnancies were evaluated in our institution. 50 pregnancies (4%) were diagnosed with TAPS, 29 underwent a fetal brain MRI. 13/29 pregnancies (44.8%) demonstrated brain findings at MRI in at least a twin. Neuroradiological findings were detected in 14/57 twins (24.6%). We detected four main categories of findings: hemorrhagic lesions, T2-weighted white-matter hyperintensities (WMH), brain edema-swelling and venous congestion. Nineteen findings were present in the anemic and three in the polycythemic twins, with a statistically significant ratio between the two groups (p-value = 0.01). Intrauterine MRI follow-up demonstrated the sequalae of hemorrhagic lesions. A complete regression of brain swelling, veins prominence and T2-WMHs was demonstrated after treatment. Postnatal imaging confirmed prenatal features.
CONCLUSIONS
Our work demonstrates that TAPS-related MRI anomalies consisted in edematous/hemorrhagic lesions that occur mostly in anemic rather than in polycythemic twins. Fetoscopic laser surgery could have a potential decongestant role. Therefore, prenatal MRI may help in counselling and management in TAPS pregnancies, especially for the planning of therapy and the monitoring of its efficacy.
Topics: Humans; Female; Pregnancy; Magnetic Resonance Imaging; Retrospective Studies; Fetofetal Transfusion; Adult; Pregnancy, Twin; Prenatal Diagnosis; Polycythemia; Anemia
PubMed: 38720066
DOI: 10.1007/s00234-024-03373-4 -
Indian Journal of Pathology &... Mar 2024Recurrent somatic mutations in the JAK2, CALR, and the MPL genes are noted in BCR: ABL1 negative classic myeloproliferative neoplasms (MPN) that includes polycythemia...
Prevalence and clinicopathological features of driver gene mutations profile in BCR: ABL1 negative classical myeloproliferative neoplasm-A single-center study from North India.
BACKGROUND
Recurrent somatic mutations in the JAK2, CALR, and the MPL genes are noted in BCR: ABL1 negative classic myeloproliferative neoplasms (MPN) that includes polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF).
MATERIALS AND METHODS
Mutation profile and clinical features of MPN cases diagnosed at a tertiary care center in North India are being described. JAK2V617F mutation was screened using ARMS PCR, and CALR mutation was screened using allele-specific PCR followed by fragment analysis. MPL and JAK2 Exon 12 mutations were screened by Sanger sequencing. Some of the samples were also screened using commercial kits based on single-plex RT PCR.
RESULTS
A total of 378 cases (including 124 PV, 121 ET, and 133 PMF cases) were screened over 6.5 years. JAK2V617F mutation was noted in 90.3%, 61.1%, and 69.2% of cases of PV, ET, and PMF, respectively. In PV, JAK2V617F wild-type cases were associated with a significantly lower age (44 yrs vs 54 yrs; P = 0.001), lower TLC (6.3 vs 16.9; P = 0.001), and a lower platelet count (188 × 109/L vs 435 × 109/L; P = 0.009) as compared to the JAK2V617F mutated cases. CALR and MPL mutations were noted in 17.4% and 12% and 0.8% and 5.3% of ET and PMF cases, respectively. Type 1 CALR mutations were commoner in both ET and PMF. The triple negative cases constituted 20.7% and 13.5% cases of ET and PMF, respectively. In ET, the triple negative cases were found to have a significantly lower median age of presentation (42 yrs vs 52 yrs; P = 0.001), lower median TLC (10.2 × 109/L vs 13.2 × 109/L; P = 0.024), and a higher median platelet count (1238 × 109/L vs 906 × 109/L; P = 0.001) as compared to driver genes mutated cases. In PMF, the triple negative cases were found to have a significantly lower hemoglobin level (7.9 g/dl vs 11.0 gl/dl; P = 0.001) and a significant female preponderance (P = 0.05) as compared to the mutated cases. CALR mutations were found to have a significantly lower median age (43 yrs vs 56 yrs; P = 0.001) and lower hemoglobin (9.6 g/dl vs 11.3 g/dl) as compared to the JAK2 mutations.
CONCLUSION
Our data on the driver gene mutational profile of BCR: ABL1 negative MPN is one of the largest patient cohorts. The prevalence and clinicopathological features corroborate with that of other Asian studies.
PubMed: 38718214
DOI: 10.4103/ijpm.ijpm_743_23 -
AJOG Global Reports May 2024Myomatous erythrocytosis syndrome is a rare phenomenon of secondary polycythemia evolving from uterine leiomyoma. Although the underlying pathology is still unknown,...
Myomatous erythrocytosis syndrome is a rare phenomenon of secondary polycythemia evolving from uterine leiomyoma. Although the underlying pathology is still unknown, patients have an increased risk of venous thrombosis. A 44-year-old GO (gravida zero) presented with an incidental finding of secondary polycythemia, and a diagnosis of myomatous erythrocytosis syndrome was made because of her large uterine fibroids. She was placed on therapeutic anticoagulation after developing pulmonary embolisms and a dural sinus venous thrombosis. Subsequently, she underwent uterine artery embolization, which resulted in a substantial decrease in her erythropoietin (8.1 mU/mL) along with hemoglobin (15.1 g/dL) and hematocrit (4 5g/dL). Myomatous erythrocytosis syndrome can cause venous thrombosis, leading to neurologic complications. In patients with increased risk for surgery, uterine artery embolization is an effective option for treatment.
PubMed: 38711423
DOI: 10.1016/j.xagr.2024.100340 -
Journal of Emergencies, Trauma, and... 2024Cerebral venous thrombosis (CVT) is a thromboembolic disease of the intracranial venous systems. The disease can be difficult to diagnose as it often requires a high...
INTRODUCTION
Cerebral venous thrombosis (CVT) is a thromboembolic disease of the intracranial venous systems. The disease can be difficult to diagnose as it often requires a high index of suspicion. Risk factors for the disease include pregnancy, oral contraceptive pills, congenital thrombophilia, infection, cancer, polycythemia, head trauma, and recent surgery. However, there have been no studies in the United States that have examined whether pregnancy and the postpartum stage are truly a risk factor for CVT. The aim of this study is to determine whether pregnant and postpartum women presenting to the emergency department with headaches have a higher incidence of CVT to better risk stratify which patients need to have advanced imaging pursued.
METHODS
A retrospective, observational case-control study was performing by querying the electronic medical record at a large county hospital for patients presenting with a headache to the emergency department. Patients were stratified into groups based on whether they were diagnosed with CVT, pregnancy status, and comorbid conditions to determine the risk associated between pregnancy, the puerperium stage, and CVT.
RESULTS
A total of 20,955 males and females presented to the emergency department between January 1, 2016 and April 13, 2023, with a chief complaint of headache. There were 19,474 female patients and 9581 male patients. In the case group, there were 793 pregnant women and 53 postpartum women. In the control group, there were 18,628 women who were not pregnant. Of the 22 patients diagnosed with CVT, 1 was in the puerperium stage and no patients were pregnant. Pregnant and postpartum patients were 1.05 (0.14-7.80) times more likely to develop CVT. Pregnant and postpartum patients were 1.73 (0.23-13.52) times more likely to develop CVT when controlled for comorbidities. Patients in the puerperium stage were 26.48 (3.33-210.87) times more likely to develop CVT when controlled for comorbidities.
CONCLUSION
Pregnant patients presenting to the emergency department with headaches do not have a significantly higher risk of CVT; however, puerperium patients have a significantly higher risk of CVT compared to the general population.
PubMed: 38681884
DOI: 10.4103/jets.jets_92_23 -
Cureus Mar 2024Hydroxyurea (HU), an anti-metabolite ribonucleotide reductase inhibitor, is commonly used to treat several myeloproliferative disorders, including polycythemia vera....
Hydroxyurea (HU), an anti-metabolite ribonucleotide reductase inhibitor, is commonly used to treat several myeloproliferative disorders, including polycythemia vera. However, patients receiving long-term treatment with HU may experience a variety of cutaneous side effects, with non-melanoma skin cancers (NMSCs) emerging as the most challenging and destructive. HU-induced carcinogenesis can be attributed to both the drug's mutagenic potential and impaired DNA repair following damage by external triggers such as ultraviolet light. We report a unique case of multiple aggressive NMSCs distributed within sun-exposed areas in an 81-year-old woman receiving chronic therapy with HU for 15 years. The case draws the clinician's attention to the increased incidence of NMSCs in this population and highlights the need for regular dermatologic monitoring. We also elaborate relevant insights and recommendations to assist healthcare providers in managing HU-related NMSCs development and progression.
PubMed: 38681414
DOI: 10.7759/cureus.57133 -
ACS Omega Apr 2024Imbalances in hemoglobin (Hb) levels can lead to conditions such as anemia or polycythemia, emphasizing the importance of precise Hb extraction from blood. To address...
Imbalances in hemoglobin (Hb) levels can lead to conditions such as anemia or polycythemia, emphasizing the importance of precise Hb extraction from blood. To address this, a novel synthetic imprinted polymer was meticulously developed for capturing and separating Hb. Poly(acrylamide-vinylimidazole) nanopolymer (poly(AAm-VIM)) was synthesized using acrylamide and vinyl imidazole as functional monomers through surfactant-free emulsion polymerization. Characterization using FTIR, particle size, zeta potential, and SEM ensured the polymer's structure. The Hb-imprinted nanopolymer (Hb-poly(AAm-VIM)) demonstrated notable specificity, with a calculated Hb-specific adsorption value (Q) of 3.7377 mg/g in a medium containing 2.5 mg/mL Hb. The molecularly imprinted polymer (MIP) exhibited approximately 5 times higher Hb adsorption than the nonimprinted polymer (NIP). Under the same conditions, the imprinted nanopolymer displayed 2.39 and 2.17 times greater selectivity for Hb over competing proteins such as bovine serum albumin (BSA) and lysozyme (Lys), respectively. Also, SDS-PAGE analysis results confirmed the purification of Hb by the molecularly imprinted nanopolymer. These results underscore the heightened specificity and efficacy of the molecularly imprinted nanopolymer in selectively targeting Hb atoms among other proteins. Incorporating such polymers is justified by their notable affinity, cost-effectiveness, and facile production. This research contributes valuable insights into optimizing synthetic imprinted polymers for efficient Hb extraction, with potential in medical diagnostics and treatment applications.
PubMed: 38680349
DOI: 10.1021/acsomega.4c00547 -
Medicina (Kaunas, Lithuania) Mar 2024Liver cancer poses a significant global health threat, ranking among the top three causes of cancer-related deaths. Patients with hepatocellular carcinoma (HCC) often...
Liver cancer poses a significant global health threat, ranking among the top three causes of cancer-related deaths. Patients with hepatocellular carcinoma (HCC) often present with symptoms associated with neoplasms or unusual clinical features such as paraneoplastic syndromes (PNS), including hypoglycemia, hypercholesterolemia, thrombocytosis, and erythrocytosis. Our study aimed to investigate the prevalence, clinical characteristics, and survival outcomes associated with PNS in HCC patients and assess each PNS's impact on patient survival. We conducted a retrospective analysis of PNS clinical features and survival among consecutive HCC patients diagnosed at our department over seven years, comparing them with HCC patients without PNS. The study involved a retrospective data evaluation from 378 patients diagnosed with HCC between January 2016 and October 2023. We obtained a PNS prevalence of 25.7%, with paraneoplastic hypercholesterolemia at 10.9%, hypoglycemia at 6.9%, erythrocytosis at 4.5%, and thrombocytosis at 3.4%. Patients with PNS tended to be younger and predominantly male. Multivariate analysis revealed a strong correlation between PNS and levels of alpha-fetoprotein and tumor size, with diabetes also showing a significant statistical association ( < 0.05). Subgroup analysis based on specific paraneoplastic syndromes demonstrated shorter survival in patients with PNS, albeit without significant statistical differences, except for hypoglycemia ( < 0.0001). Matched analysis indicated a shorter survival rate for patients with PNS, although no significant statistical differences were observed. PNS are frequently observed in HCC cases and are associated with unfavorable prognoses and decreased survival rates due to their correlation with increased tumor burdens. However, they do not independently predict poor survival. The impact of individual PNS on HCC prognosis varies.
Topics: Humans; Male; Retrospective Studies; Carcinoma, Hepatocellular; Female; Paraneoplastic Syndromes; Middle Aged; Liver Neoplasms; Aged; Prevalence; Adult; Survival Analysis; Hypercholesterolemia; Hypoglycemia; Polycythemia; Aged, 80 and over; Thrombocytosis
PubMed: 38674198
DOI: 10.3390/medicina60040552 -
Journal of Clinical Medicine Apr 2024: Philadelphia-negative chronic myeloproliferative neoplasms are a group of clonal hematopoietic disorders including polycythemia vera, essential thrombocythemia, and...
: Philadelphia-negative chronic myeloproliferative neoplasms are a group of clonal hematopoietic disorders including polycythemia vera, essential thrombocythemia, and primary myelofi-brosis. These neoplasms are characterized by an increased risk of thrombotic complications. Several studies have highlighted that the study of vessels of the retina offers the opportunity to visualize, in vivo, the damage to microcirculation that is common in various systemic pathologies. in our study, forty patients underwent an ophthalmological examination, using non-invasive imaging tech-niques, for analyses of their retinal vascularization. The objective was to correlate the findings ob-tained from this study of the retina with different markers of thrombotic risk, to demonstrate the usefulness of studying retinal vessels as a possible new prognostic biomarker of thrombotic risk in patients affected by Philadelphia-negative chronic myeloproliferative neoplasms. retinal imaging demonstrated changes in the microcirculation, with a reduced vascular density of the deep and superficial capillary plexuses with respect to a normal group, and a correlation between retinal changes and blood parameters. additional research will allow us to determine whether retinal changes in individuals with chronic myeloproliferative neoplasms could be predictive of the development of thrombotic events in these subjects.
PubMed: 38673505
DOI: 10.3390/jcm13082232 -
Life (Basel, Switzerland) Apr 2024To investigate the prognostic contribution of absolute neutrophil (ANC), lymphocyte (ALC), platelet count and their ratios, neutrophil-lymphocyte ratio (NLR) and...
AIM
To investigate the prognostic contribution of absolute neutrophil (ANC), lymphocyte (ALC), platelet count and their ratios, neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR), to thrombotic risk in patients with prefibrotic and overt fibrotic myelofibrosis (MF).
METHODS
We retrospectively analyzed a cohort of 256 patients with prefibrotic (85 patients) and overt fibrotic MF (171 patients) treated in six Croatian hematological centers.
RESULTS
Prefibrotic compared to overt fibrotic MF patients presented with significantly higher ALC, platelet count and PLR, and experienced longer time to thrombosis (TTT). Among prefibrotic patients, ANC > 8.33 × 10/L (HR 13.08, = 0.036), ALC > 2.58 × 10/L (HR 20.63, = 0.049) and platelet count > 752 × 10/L (HR 10.5, = 0.043) remained independently associated with shorter TTT. Among overt fibrotic patients, ANC > 8.8 × 10/L (HR 4.49, = 0.004), ALC ≤ 1.43 × 10/L (HR 4.15, = 0.003), platelet count ≤ 385 × 10/L (HR 4.68, = 0.004) and chronic kidney disease (HR 9.07, < 0.001) remained independently associated with shorter TTT.
CONCLUSIONS
Prognostic properties of ANC, ALC and platelet count are mutually independent and exceed those of NLR and PLR regarding thrombotic risk stratification. ALC and platelet count associate in opposite directions with thrombotic risk in prefibrotic and overt fibrotic MF patients.
PubMed: 38672793
DOI: 10.3390/life14040523 -
Life (Basel, Switzerland) Apr 2024Myeloproliferative neoplasms (MPNs) are often associated with splanchnic vein thrombosis (SVT). Not all the factors involved in the thrombotic tendency are currently...
ADAMTS13, von Willebrand Factor, Platelet Microparticles, Factor VIII, and Impact of Somatic Mutations in the Pathogenesis of Splanchnic Vein Thrombosis Associated with BCR-ABL-Negative Myeloproliferative Neoplasms.
BACKGROUND
Myeloproliferative neoplasms (MPNs) are often associated with splanchnic vein thrombosis (SVT). Not all the factors involved in the thrombotic tendency are currently known.
OBJECTIVES
This study aims to evaluate a possible association between ADAMTS13, von Willebrand factor (VWF), platelet microvesicles (MV), and factor VIII activity (FVIII:C) with thrombotic events in MPN patients.
MATERIALS AND METHODS
In total, 36 consecutive MPN patients with SVT were enrolled. The MPNs were diagnosed based on clinical characteristics and one or more gene mutations among JAK-2, CALR, and MPL. As controls, 50 randomly selected patients with MPN without thrombosis, 50 patients with deep vein thrombosis without MPNs, and 50 healthy blood donors were evaluated. Complete blood count, ADAMTS13, VWF, MV, and FVIII:C in plasma were measured in all the subjects.
RESULTS
The JAK-2 mutation was found in 94% of the patients with SVT, but none were triple-negative for genetic mutations (JAK2 V617F, CALR, MPL, and exon 12). Compared to the normal subjects, in all the MPN patients (with or without SVT), the levels of ADAMTS13 were found to be significantly lower ( < 0.001) and the MV concentrations were significantly higher ( < 0.001). Among the MPN patients, the VWF and FVIII:C levels were significantly higher in the patients with SVT than those without thrombosis ( = 0.007 and = 0.04, respectively). Splenomegaly was present in 78% of MPN patients with SVT and in 30% of those without SVT ( < 0.001). The ADAMTS13/VWF ratio was reduced in all the patients, but not in the healthy blood donors ( < 0.001).
CONCLUSIONS
The significant increase in circulating MV, VWF, and FVIII:C in the MPN patients and in the patients with thrombosis supports the role of endothelium damage in promoting thrombotic events. In particular, a significant increase in VWF and FVIII:C levels was found in the MPN patients with SVT.
PubMed: 38672756
DOI: 10.3390/life14040486