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Frontiers in Cardiovascular Medicine 2024Neural crest cells (NCCs) are multipotent and are attributed to the combination of complex multimodal gene regulatory mechanisms. Cardiac neural crest (CNC) cells,...
INTRODUCTION
Neural crest cells (NCCs) are multipotent and are attributed to the combination of complex multimodal gene regulatory mechanisms. Cardiac neural crest (CNC) cells, originating from the dorsal neural tube, are pivotal architects of the cardio-neuro-vascular domain, which orchestrates the embryogenesis of critical cardiac and vascular structures. Remarkably, while the scientific community compiled a comprehensive inventory of neural crest derivatives by the early 1980s, our understanding of the CNC's role in various cardiovascular disease processes still needs to be explored. This review delves into the differentiation of NCC, specifically the CNC cells, and explores the diverse facets of non-syndromic cardiovascular neurocristopathies.
METHODS
A systematic review was conducted as per the PRISMA Statement. Three prominent databases, PubMed, Scopus, and Embase, were searched, which yielded 1,840 studies. We excluded 1,796 studies, and the final selection of 44 studies formed the basis of this comprehensive review.
RESULTS
Neurocristopathies are a group of genetic disorders that affect the development of cells derived from the NC. Cardiovascular neurocristopathy, i.e., cardiopathy and vasculopathy, associated with the NCC could occur in the form of (1) cardiac septation disorders, mainly the aortico-pulmonary septum; (2) great vessels and vascular disorders; (3) myocardial dysfunction; and (4) a combination of all three phenotypes. This could result from abnormalities in NCC migration, differentiation, or proliferation leading to structural abnormalities and are attributed to genetic, familial, sporadic or acquired causes.
DISCUSSION
Phenotypic characteristics of cardiovascular neurocristopathies, such as bicuspid aortic valve and thoracic aortic aneurysm, share a common embryonic origin and are surprisingly prevalent in the general population, necessitating further research to identify the underlying pathogenic and genetic factors responsible for these cardiac anomalies. Such discoveries are essential for enhancing diagnostic screening and refining therapeutic interventions, ultimately improving the lives of individuals affected by these conditions.
PubMed: 38660479
DOI: 10.3389/fcvm.2024.1333265 -
Facts, Views & Vision in ObGyn Mar 2024Congenital uterine anomalies (CUA) can be associated with impairments of early and late pregnancy events.
BACKGROUND
Congenital uterine anomalies (CUA) can be associated with impairments of early and late pregnancy events.
OBJECTIVE
To assess the impact of CUA on reproductive outcomes in pregnancies conceived spontaneously or after assisted reproduction.
MATERIALS AND METHODS
Systematic review and meta-analysis of cohort studies comparing patients with CUA versus women with normal uterus. A structured literature search was performed in leading scientific databases to identify prospective and retrospective studies. The Newcastle-Ottawa scale, adapted to AHRQ standards, was used to assess the risk of bias. Pooled odds ratios (OR) were calculated. Publication bias and statistical heterogeneity were assessed, and meta-regression was used to analyse the heterogeneity.
MAIN OUTCOME MEASURES
Miscarriage, ectopic pregnancy, placental abruption, term, and premature rupture of membranes (PROM), malpresentation at delivery, preterm delivery prior to 37, 34 and 32 weeks, caesarean delivery, intrauterine growth restriction/small for gestational age, foetal mortality and perinatal mortality.
RESULTS
32 studies were included. CUAs increased significantly the risk of first/second trimester miscarriage (OR:1.54;95%CI:1.14-2.07), placental abruption (OR:5.04;3.60-7.04), PROM (OR:1.71;1.34-2.18), foetal malpresentation at delivery (OR:21.04;10.95-40.44), preterm birth (adjusted OR:4.34;3.59-5.21), a caesarean delivery (adjusted OR:7.69;4.17-14.29), intrauterine growth restriction/small for gestational age (adjusted OR:50;6.11-424), foetal mortality (OR:2.07;1.56-2.73) and perinatal mortality (OR:3.28;2.01-5.36).
CONCLUSIONS
CUA increases the risk of complications during pregnancy, delivery, and postpartum. Complications most frequent in CUA patients were preterm delivery, foetal malpresentation, and caesarean delivery.
WHAT IS NEW?
Bicornuate uterus was associated with the highest number of adverse outcomes, followed by didelphys, subseptate and septate uterus.
PubMed: 38551471
DOI: 10.52054/FVVO.16.1.004 -
Diagnostics (Basel, Switzerland) Feb 2024Hysteroscopy currently represents the gold standard for the diagnosis and treatment of intrauterine pathologies. Recent technological progress has enabled the... (Review)
Review
Hysteroscopy currently represents the gold standard for the diagnosis and treatment of intrauterine pathologies. Recent technological progress has enabled the integration of diagnostic and operative time, leading to the "see and treat" approach. Diode laser technology is emerging as one of the most innovative and intriguing techniques in this context. A comprehensive search of the literature was carried out on the main databases. Only original studies reporting the treatment of intrauterine pathologies using diode laser were deemed eligible for inclusion in this systematic review (PROSPERO ID: CRD42023485452). Eight studies were included in the qualitative analysis for a total of 474 patients undergoing laser hysteroscopic surgery. Eighty-three patients had female genital tract abnormalities, 63 had submucosal leiomyomas, 327 had endometrial polyps, and one patient had a scar pregnancy. Except for leiomyomas, whose technique already included two surgical times at the beginning, only seven patients required a second surgical step. Cumulative rates of intraoperative and postoperative complications of 2.7% and 0.6%, respectively, were reported. Diode laser through "see and treat" hysteroscopy appears to be a safe and effective method. However, additional studies with larger sample sizes and improved designs are needed to consolidate the evidence currently available in the literature.
PubMed: 38337843
DOI: 10.3390/diagnostics14030327 -
Mycopathologia Dec 2023Cladosporium halotolerans is a saprobic fungus, rarely implicated in human infections. The identification is challenging due to non-specific phenotypic features.
BACKGROUND
Cladosporium halotolerans is a saprobic fungus, rarely implicated in human infections. The identification is challenging due to non-specific phenotypic features.
OBJECTIVE
To decipher clinical spectrum, microbiological and susceptibility profile of clinical and environmental isolates of Cladosporium halotolerans.
METHOD
All the isolates identified as Cladosporium halotolerans deposited in National Culture Collection for Pathogenic Fungi (NCCPF), Postgraduate Institute of Medical Education and Research, Chandigarh, India were revived. Phenotypic and molecular characterization targeting internal transcribed spacer (ITS) region of ribosomal DNA, large subunit of ribosomal DNA (LSU; NL1 and NL4), actin (ACT) and beta-tubulin (TUB) was done. Scanning electron microscopy (SEM) was performed to determine any phenotypic variations. Antifungal susceptibility testing (AFST) was carried out for eight antifungal agents as per CLSI M38 Ed3 guidelines. We also performed systematic literature review of all the cases of Cladosporium halotolerans reported till date.
RESULTS
A total of four isolates (clinical, n = 3; soil, n = 1) identified as Cladosporium halotolerans were included in the study. The clinical sites were skin, maxillary tissue and nail. All patients were apparently immunocompetent, and history of trauma was recorded in one patient. All patients improved on antifungal therapy. The cultures revealed growth of black mycelial fungus and microscopic examination demonstrated dematiaceous septate hyphae with erect conidiophores and conidia in branched acropetal chains. Based on molecular methods, all the four isolates were identified as C. halotolerans. SEM revealed no variation in length and width of the conidia, conidiophores, ramoconidium and hyphae among the isolates. All molecular targets, such as ITS region, LSU (partially sequenced), ACT and TUB were able to differentiate the isolates. Minimum inhibitory concentrations for antifungals were: triazoles (0.12-2 μg/ml), amphotericin B (4 μg/ml) and echinocandins (2-8 μg/ml).
CONCLUSION
We report role of the rarely isolated dematiaceous fungus, C. halotolerans, in causing human infections. The study emphasizes the role of molecular methods in precisely identifying these species. Triazoles are more active against these black fungi compared to polyenes or echinocandins.
Topics: Humans; Antifungal Agents; Fungi; Echinocandins; DNA, Ribosomal; Triazoles; Microscopy, Electron, Scanning; Spores, Fungal
PubMed: 37924426
DOI: 10.1007/s11046-023-00801-6 -
European Radiology Dec 2023This systematic review and meta-analysis evaluated the diagnostic accuracy of CT and MRI for differentiating atypical lipomatous tumors and malignant liposarcomas from... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
This systematic review and meta-analysis evaluated the diagnostic accuracy of CT and MRI for differentiating atypical lipomatous tumors and malignant liposarcomas from benign lipomatous lesions.
METHODS
MEDLINE, EMBASE, Scopus, the Cochrane Library, and the gray literature from inception to January 2022 were systematically evaluated. Original studies with > 5 patients evaluating the accuracy of CT and/or MRI for detecting liposarcomas with a histopathological reference standard were included. Meta-analysis was performed using a bivariate mixed-effects regression model. Risk of bias was evaluated using Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2). This study is registered on PROSPERO, number CRD42022306479.
RESULTS
Twenty-six studies with a total of 2613 patients were included. Mean/median reported patient ages ranged between 50 and 63 years. The summary sensitivity and specificity of radiologist gestalt for detecting liposarcomas was 85% (79-90% 95% CI) and 63% (52-72%), respectively. Deep depth to fascia, thickened septations, enhancing components, and lesion size (≥ 10 cm) all demonstrated sensitivities ≥ 85%. Other imaging characteristics including heterogenous/amorphous signal intensity, irregular tumor margin, and nodules present demonstrated lower sensitivities ranging from 43 to 65%. Inter-reader reliability for radiologist gestalt within studies ranged from fair to substantial (k = 0.23-0.7). Risk of bias was predominantly mixed for patient selection, low for index test and reference standard, and unclear for flow and timing.
CONCLUSION
Higher sensitivities for detecting liposarcomas were achieved with radiologist gestalt, deep depth to fascia, thickened septations, enhancing components, and large size. Combined clinical and imaging scoring and/or radiomics both show promise for optimal performance, though require further analysis with prospective study designs.
CLINICAL RELEVANCE
This pooled analysis evaluates the accuracy of CT and MRI for detecting atypical lipomatous tumors and malignant liposarcomas. Radiologist gestalt, deep depth to fascia, thickened septations, enhancing components, and large size demonstrate the highest overall sensitivities.
KEY POINTS
• The summary sensitivity and specificity of radiologist gestalt for detecting liposarcomas was 85% (79-90% 95% CI) and 63% (52-72%), respectively. • Radiologist gestalt, deep depth to fascia, thickened septations, enhancing components, and large tumor size (≥ 10 cm) showed the highest sensitivities for detecting atypical lipomatous tumors/well-differentiated liposarcomas and malignant liposarcomas. • A combined clinical and imaging scoring system and/or radiomics is likely to provide the best overall diagnostic accuracy, although currently proposed scoring systems and radiomic feature analysis require further study with prospective study designs.
Topics: Humans; Middle Aged; Reproducibility of Results; Prospective Studies; Magnetic Resonance Imaging; Liposarcoma; Lipoma; Tomography, X-Ray Computed; Sensitivity and Specificity
PubMed: 37439933
DOI: 10.1007/s00330-023-09916-2 -
Archives of Gynecology and Obstetrics Mar 2024Septate uterus is a congenital malformation associated with adverse reproductive and pregnancy outcomes. It remains controversial whether hysteroscopic septoplasty... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Septate uterus is a congenital malformation associated with adverse reproductive and pregnancy outcomes. It remains controversial whether hysteroscopic septoplasty should be recommended for the treatment of septate uterus, and it is also unclear if different hysteroscopic methods have more favorable outcomes. This study aims to compare the available hysteroscopic techniques of septoplasty for fertility, reproductive, and perioperative outcomes.
METHODS
This systematic review and meta-analysis was conducted following PRISMA guidelines. We searched Medline, Scopus, and Cochrane databases up to April 2023 without language restrictions. Eligible studies had to compare two or more different methods of hysteroscopic septoplasty in women with septate uterus and report on fertility and pregnancy outcomes after a follow-up. Perioperative outcomes were also examined. Data extraction was performed by two independent reviewers using a standardized form. Risk of bias was assessed using the Newcastle-Ottawa Quality Assessment Form and Revised Cochrane risk-of-bias tool (RoB 2).
RESULTS
Out of 561 studies identified, 9 were included in the systematic review and meta-analysis. The comparison of different hysteroscopic septoplasty techniques based on the energy used showed higher pregnancy rates after mechanical septoplasty in comparison to electrosurgery, while miscarriage and live birth rates were comparable. Laser vs. electrosurgery and mechanical techniques of septoplasty had comparable pregnancy, miscarriage, and live birth rates. The network meta-analysis after comparing every different method used showed significantly higher clinical pregnancy rate in scissor group in comparison to resectoscope. No significant differences were found among the techniques regarding miscarriage rate and live birth rate.
CONCLUSION
In summary, this systematic review and network meta-analysis suggests that hysteroscopic septoplasty with scissors is associated with higher pregnancy rates compared to resectoscope. However, the limited evidence available and small sample sizes in the included studies indicate that these findings should be interpreted with caution. Further studies are required to determine the effectiveness of various hysteroscopic techniques and guide clinical decision-making in the management of this condition.
Topics: Pregnancy; Female; Humans; Hysteroscopy; Septate Uterus; Abortion, Spontaneous; Network Meta-Analysis; Uterus; Pregnancy Outcome; Fertility; Infertility, Female
PubMed: 37354236
DOI: 10.1007/s00404-023-07109-2 -
Diagnostics (Basel, Switzerland) Feb 2023The septate uterus is the most common congenital uterine anomaly, and hysteroscopy is the gold standard for diagnosing it. The goal of this meta-analysis is to perform a... (Review)
Review
Diagnostic Performance of Two-Dimensional Ultrasound, Two-Dimensional Sonohysterography and Three-Dimensional Ultrasound in the Diagnosis of Septate Uterus-A Systematic Review and Meta-Analysis.
BACKGROUND
The septate uterus is the most common congenital uterine anomaly, and hysteroscopy is the gold standard for diagnosing it. The goal of this meta-analysis is to perform a pooled analysis of the diagnostic performance of two-dimensional transvaginal ultrasonography, two-dimensional transvaginal sonohysterography, three-dimensional transvaginal ultrasound, and three-dimensional transvaginal sonohysterography for the diagnosis of the septate uterus.
METHODS
Studies published between 1990 and 2022 were searched in PubMed, Scopus, and Web of Science. From 897 citations, we selected eighteen studies to include in this meta-analysis.
RESULTS
The mean prevalence of uterine septum in this meta-analysis was 27.8%. Pooled sensitivity and specificity were 83% and 99% for two-dimensional transvaginal ultrasonography (ten studies), 94% and 100% for two-dimensional transvaginal sonohysterography (eight studies), and 98% and 100% for three-dimensional transvaginal ultrasound (seven articles), respectively. The diagnostic accuracy of three-dimensional transvaginal sonohysterography was only described in two studies, and we did not calculate the pooled sensitivity and specificity for this method.
CONCLUSION
Three-dimensional transvaginal ultrasound has the best performance capacity for the diagnosis of the septate uterus.
PubMed: 36832295
DOI: 10.3390/diagnostics13040807 -
American Journal of Obstetrics &... Jan 2023The aim of this systematic review and meta-analysis was to analyze the reproductive outcomes of natural pregnancy after hysteroscopic septum resection in patients with... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
The aim of this systematic review and meta-analysis was to analyze the reproductive outcomes of natural pregnancy after hysteroscopic septum resection in patients with recurrent miscarriage, primary infertility, or secondary infertility.
DATA SOURCES
The PubMed, Embase, Cochrane Library, Web of Science, China National Knowledge Infrastructure (CNKI), Wanfang Data Knowledge Service Platform, VIP Database, and Chinese Biomedical Literature Database (CBM) databases were electronically searched. The search time frame was from inception up to July 2021. The English search terms were (arcuate* and uter*), (sept* and uter*), (subseptate* and uter*), metroplast*, septoplast*, and resect*.
STUDY ELIGIBILITY CRITERIA
Selection criteria included randomized controlled trials, cohort studies, and case series that explored reproductive outcomes after hysteroscopic septum resection in patients with recurrent miscarriage, primary infertility, or secondary infertility with or without a control group.
METHODS
The primary outcomes were the live birth rate and eventual postoperative live birth rate after hysteroscopic septum resection. The secondary outcomes were the clinical pregnancy rate, preterm birth rate, and miscarriage rate. Study-level proportions of outcomes were transformed using the Freeman-Tukey double-arcsine transformation to calculate pooled values for the postoperative rates; the counted data were analyzed using relative risk as the effect analysis statistic, and each effect size was provided with its 95% confidence interval. Heterogeneity between the results of the included studies was analyzed using the I test.
RESULTS
Overall, 5 cohort studies and 22 case series involving 1506 patients were included. In patients with a septate uterus and recurrent miscarriage, hysteroscopic septum resection was associated with an increased live birth rate (relative risk, 1.77; 95% confidence interval, 1.26-2.49; P=.001; I=0%), resulting in a postoperative live birth rate of 66% (95% confidence interval, 59-72), and septum resection was associated with a reduced preterm birth rate (relative risk, 0.15; 95% confidence interval, 0.04-0.53; P=.003; I=0%) and miscarriage rate (relative risk, 0.36; 95% confidence interval, 0.20-0.66; P=.0009; I=0%). In patients with a septate uterus and primary infertility, hysteroscopic septum resection was associated with an increased live birth rate (relative risk, 4.12; 95% confidence interval, 1.19-14.29; P=.03; I=0%) and clinical pregnancy rate (relative risk, 2.28; 95% confidence interval, 1.04-4.98; P=.04; I=0%). The postoperative live birth rate was 37% (95% confidence interval, 30-44), and the miscarriage rate of patients with primary infertility was reduced (relative risk, 0.19; 95% confidence interval, 0.06-0.56; P=.003). The efficacy of hysteroscopic septum resection in patients with secondary infertility was unclear. However, their postoperative live birth rate was found to be 41% (95% confidence interval, 2-88).
CONCLUSION
Hysteroscopic septum resection is associated with an increased live birth rate and a reduced miscarriage rate in patients with recurrent miscarriage or primary infertility, indicating that septum resection may improve the reproductive outcomes of these patients. The effectiveness of septum resection was unclear for patients with secondary infertility. These findings are limited by the quality of the included studies, warranting further randomized controlled trials, including only patients with recurrent miscarriage or primary infertility.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Hysteroscopy; Premature Birth; Septate Uterus; Infertility; Abortion, Habitual
PubMed: 36220552
DOI: 10.1016/j.ajogmf.2022.100762 -
Gene Oct 2022The septation defect is one of the main categories of congenital heart disease (CHD). They can affect the septation of the atria leading to atrial septal defect (ASD),...
The septation defect is one of the main categories of congenital heart disease (CHD). They can affect the septation of the atria leading to atrial septal defect (ASD), septation of ventricles leading to ventricular septal defect (VSD), and formation of the central part of the heart leading to atrioventricular septal defect (AVSD). Disruption of critical genetic factors involved in the proper development of the heart structure leads to CHD manifestation. Because of this, to identify the high-risk genes involved in common septal defects, a comprehensive search of the literature with the help of databases and the WebGestalt analysis tool was performed. The high-risk genes identified in the analysis were checked in 16 Indian whole-exome sequenced samples, including 13 VSD and three Tetralogy of Fallot for in silico validation. This data revealed three variations in GATA4, i.e., c.C1223A at exon 6: c.C602A and c.C1220A at exon 7; and one variation in MYH6, i.e., c.G3883C at exon 28 in two VSD cases. This study supports previously published studies that suggested GATA4 and MYH6 as the high-risk genes responsible for septal defects. Thus, this study contributes to a better understanding of the genes involved in heart development by identifying the high-risk genes and interacting proteins in the pathway.
Topics: Exome; Heart Defects, Congenital; Heart Septal Defects; Heart Septal Defects, Atrial; Heart Septal Defects, Ventricular; Humans
PubMed: 35863714
DOI: 10.1016/j.gene.2022.146745 -
Transplantation Proceedings 2022Adult hepatic mesenchymal hamartoma (HMH) is an extremely rare hepatic tumor. Recurrence following complete resection is uncommon. Liver transplantation (LT) is...
BACKGROUND
Adult hepatic mesenchymal hamartoma (HMH) is an extremely rare hepatic tumor. Recurrence following complete resection is uncommon. Liver transplantation (LT) is described as a possible treatment option in nonresectable HMH. We conducted a systematic review investigating LT in adult HMH followed by a case report describing evidence of extensive recurrence following complete resection of large right-sided HMH requiring LT.
CASE REPORT
A 46-year-old woman with symptomatic large right-hepatic HMH underwent right hemi-hepatectomy with histologic evidence of complete resection. Two and a half years postresection, she presented with abdominal pain and distension; imaging revealed large multi-septated hepatic cystic lesions within the liver suggestive of extensive recurrence of disease with concerns of malignant sarcomatous transformation. After a multidisciplinary team discussion, the lesion was deemed unresectable and the patient was referred for LT. Findings on transplantation included giant multiple hepatic cystic lesions occupying the entire abdomen and histopathological analysis confirmed recurrent HMH with no malignancy. The 6-month follow-up was unremarkable with no signs of postoperative complications or rejection.
CONCLUSION
We identified only 3 reported adult unresectable HMH cases in the English literature requiring LT, with good clinical outcome and no rejection on a 1-year follow-up. To our knowledge, we report the first recurrent HMH that required LT in the English literature. Current evidence suggests possible malignant sarcomatous transformation of those lesions. No guidelines exist on postresection surveillance for HMH; however, given their malignant potential, we suggest a benefit of imaging-based surveillance following HMH resection. Offering LT for nonresectable or recurrent HMH is a feasible treatment modality with a reported good outcome.
Topics: Adult; Female; Hamartoma; Hepatectomy; Humans; Liver Neoplasms; Liver Transplantation; Middle Aged
PubMed: 35842317
DOI: 10.1016/j.transproceed.2022.04.020