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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 -
Circulation Nov 2023Conotruncal defects due to developmental abnormalities of the outflow tract (OFT) are an important cause of cyanotic congenital heart disease. Dysregulation of...
BACKGROUND
Conotruncal defects due to developmental abnormalities of the outflow tract (OFT) are an important cause of cyanotic congenital heart disease. Dysregulation of transcriptional programs tuned by NKX2-5 (NK2 homeobox 5), GATA6 (GATA binding protein 6), and TBX1 (T-box transcription factor 1) have been implicated in abnormal OFT morphogenesis. However, there remains no consensus on how these transcriptional programs function in a unified gene regulatory network within the OFT.
METHODS
We generated mice harboring a 226-nucleotide deletion of a highly conserved cardiac enhancer containing 2 GATA-binding sites located ≈9.4 kb upstream of the transcription start site of () using CRISPR-Cas9 gene editing and assessed phenotypes. Cardiac defects in mice were structurally characterized using histology and scanning electron microscopy, and physiologically assessed using electrocardiography, echocardiography, and optical mapping. Transcriptome analyses were performed using RNA sequencing and single-cell RNA sequencing data sets. Endogenous GATA6 interaction with and activity on the enhancer was studied using chromatin immunoprecipitation sequencing and transposase-accessible chromatin sequencing in human induced pluripotent stem cell-derived cardiomyocytes.
RESULTS
mice recapitulated cyanotic conotruncal defects seen in patients with , and mutations. mice also exhibited defects in right Purkinje fiber network formation, resulting in right bundle-branch block. Enhancer deletion reduced embryonic expression selectively in the right ventricle and OFT of mutant hearts, indicating that enhancer activity is localized to the anterior second heart field. Transcriptional profiling of the mutant OFT revealed downregulation of important genes involved in OFT rotation and septation, such as , and . Endogenous GATA6 interacted with the highly conserved enhancer in human induced pluripotent stem cell-derived cardiomyocytes and in wild-type mouse hearts. We found critical dose dependency of cardiac enhancer accessibility on gene dosage in human induced pluripotent stem cell-derived cardiomyocytes.
CONCLUSIONS
Our results using human and mouse models reveal an essential gene regulatory network of the OFT that requires an anterior second heart field enhancer to link GATA6 with NKX2-5-dependent rotation and septation gene programs.
Topics: Humans; Mice; Animals; Transcription Factors; Homeodomain Proteins; Gene Regulatory Networks; Homeobox Protein Nkx-2.5; Mice, Transgenic; Induced Pluripotent Stem Cells; Heart; Myocytes, Cardiac; Gene Expression Regulation, Developmental
PubMed: 37772400
DOI: 10.1161/CIRCULATIONAHA.123.065700 -
Seminars in Thoracic and Cardiovascular... 2024Double inlet left ventricle (DILV) is a form of single ventricle heart disease where both atrioventricular valves enter a single left ventricle. Surgical intervention... (Review)
Review
Double inlet left ventricle (DILV) is a form of single ventricle heart disease where both atrioventricular valves enter a single left ventricle. Surgical intervention may be needed in the neonatal period secondary to systemic outflow tract obstruction or less commonly pulmonary obstruction. Two-dimensional echocardiography can adequately assess newborn anatomy and define the need for surgery. Beyond the newborn period, there is a renewed interest in septation of DILV using intracardiac baffles in a staged approach. Cross sectional imaging can aid in surgical planning. This article will review common anatomic features of DILV and imaging considerations for both single ventricle palliation and DILV septation.
Topics: Infant, Newborn; Humans; Heart Ventricles; Bays; Heart Valves; Echocardiography
PubMed: 38522877
DOI: 10.1053/j.pcsu.2024.01.005 -
Pediatric Radiology Sep 2023Fibrous hamartoma of infancy is a benign tumor that typically arises within the first 2 years of life in the subcutaneous and lower dermal layers. Diagnosis can be...
BACKGROUND
Fibrous hamartoma of infancy is a benign tumor that typically arises within the first 2 years of life in the subcutaneous and lower dermal layers. Diagnosis can be challenging as it is a rare tumor, and the imaging appearance is not well known.
OBJECTIVE
To describe the imaging features in 4 cases of fibrous hamartoma of infancy focusing on ultrasound (US) and magnetic resonance (MR) findings.
MATERIALS AND METHODS
In this retrospective IRB-approved study, informed consent was waived. We searched patient charts for histopathology-confirmed fibrous hamartoma of infancy diagnosis between November 2013 and November 2022. We found four cases, three boys and one girl, and the mean age was 1.4 years (5 months-3 years). The lesions were located in the axilla, posterior elbow, posterior neck, and lower back. All four patients underwent ultrasound evaluation of the lesion, and two patients also underwent MRI evaluation. The imaging findings were reviewed by consensus by two pediatric radiologists.
RESULTS
US imaging revealed subcutaneous lesions with variably defined hyperechoic regions and intervening hypoechoic bands resulting in a linear "serpentine" pattern or a "multiple semicircle" pattern. MR imaging evidenced heterogeneous soft tissue masses, localized in the subcutaneous fat, and showed hyperintense fat interspersed with hypointense septations on both T1- and T2-weighted images.
CONCLUSION
Fibrous hamartoma of infancy has a suggestive appearance on US with heterogeneous, echogenic subcutaneous lesions with intervening hypoechoic portions, in parallel or circumferential arrangement that can be seen as a serpentine or semicircular pattern. On MRI, interspersed macroscopic fatty components show high signal intensity on T1- and T2-weighted images and reduced signal on fat-suppressed inversion recovery images, with irregular peripheral enhancement.
Topics: Male; Child; Female; Humans; Infant; Retrospective Studies; Magnetic Resonance Imaging; Skin Neoplasms; Hamartoma; Neck
PubMed: 37341725
DOI: 10.1007/s00247-023-05701-x -
Modern Pathology : An Official Journal... Sep 2023Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but...
Lipoblastoma-Like Tumor and Fibrosarcoma-Like Lipomatous Neoplasm Represent the Same Entity: A Clinicopathologic and Molecular Genetic Study of 23 Cases Occurring in Both Men and Women at Diverse Locations.
Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of "fibrosarcoma-like lipomatous neoplasm" (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which "LLT" seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.
Topics: Male; Adult; Humans; Female; Lipoblastoma; Biomarkers, Tumor; Lipoma; Liposarcoma; Fibrosarcoma; Liposarcoma, Myxoid; Molecular Biology
PubMed: 37307874
DOI: 10.1016/j.modpat.2023.100246 -
Annals of Human Genetics Jan 2024Errors in embryonic cardiac development are a leading cause of congenital heart defects (CHDs), including morphological abnormalities of the heart that are often... (Review)
Review
Errors in embryonic cardiac development are a leading cause of congenital heart defects (CHDs), including morphological abnormalities of the heart that are often detected after birth. In the past few decades, an emerging role for cilia in the pathogenesis of CHD has been identified, but this topic still largely remains an unexplored area. Mouse forward genetic screens and whole exome sequencing analysis of CHD patients have identified enrichment for de novo mutations in ciliary genes or non-ciliary genes, which regulate cilia-related pathways, linking cilia function to aberrant cardiac development. Key events in cardiac morphogenesis, including left-right asymmetric development of the heart, are dependent upon cilia function. Cilia dysfunction during left-right axis formation contributes to CHD as evidenced by the substantial proportion of heterotaxy patients displaying complex CHD. Cilia-transduced signaling also regulates later events during heart development such as cardiac valve formation, outflow tract septation, ventricle development, and atrioventricular septa formation. In this review, we summarize the role of motile and non-motile (primary cilia) in cardiac asymmetry establishment and later events during heart development.
Topics: Humans; Mice; Animals; Cilia; Heart Defects, Congenital; Heart; Heterotaxy Syndrome; Genetic Testing
PubMed: 37872827
DOI: 10.1111/ahg.12534 -
Advances in Experimental Medicine and... 2024The formed hearts of vertebrates are widely different in anatomy and performance, yet their embryonic hearts are surprisingly similar. Developmental and molecular... (Review)
Review
The formed hearts of vertebrates are widely different in anatomy and performance, yet their embryonic hearts are surprisingly similar. Developmental and molecular biology are making great advances in reconciling these differences by revealing an evolutionarily conserved building plan to the vertebrate heart. This suggests that perspectives from evolution may improve our understanding of the formation of the human heart. Here, we exemplify this approach by discussing atrial and ventricular septation and the associated processes of remodeling of the atrioventricular junction and formation of the atrioventricular insulating plane.
Topics: Humans; Animals; Biological Evolution; Heart Ventricles; Heart Atria; Heart
PubMed: 38884714
DOI: 10.1007/978-3-031-44087-8_12