Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases

2019 ◽  
Vol 158 (4) ◽  
pp. 171-183 ◽  
Author(s):  
Cristina Gug ◽  
Adrian Rațiu ◽  
Dan Navolan ◽  
Ioan Drăgan ◽  
Iulia-Maria Groza ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Chorionic Villus ◽  
Normal Karyotype ◽  
Chromosome Abnormalities ◽  
Pcr Analysis ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Chorionic Villi ◽  
Western Romania

Embryonic chromosome abnormalities are the most important causes of early spontaneous abortions. The aim of this study was to evaluate the spectrum and the frequencies of chromosomal anomalies in spontaneous miscarriages and to correlate these with maternal and gestational age. A retrospective study was conducted based on data obtained from a single medical genetics laboratory that collects cases from Western Romania. Long-term cultures of chorionic villus samples were established for karyotype analysis by GTG banding. Additionally, we performed QF-PCR to detect aneuploidies for chromosomes 13, 18, 21, X, and Y. In total, chorionic villi samples of 330 miscarriages (from August 2007 to November 2018) were analyzed. Results were obtained for 90.6% (299/330) of the cases. The remaining 9.4% (31/330) were excluded from evaluation due to inconclusive results. An abnormal karyotype was found in 156 cases (47.27%), while in 143 cases (43.33%) a normal karyotype was present. Of the abnormal cases, 88 (56.4%) had trisomies, 25 (16.0%) presented polyploidies, 25 (16.0%) had monosomy X, and 19 (11.5%) chromosome rearrangements. QF-PCR analysis identified aneuploidy in 2 out of 8 samples (25%). Cytogenetic investigations of spontaneous abortions provide valid data as to the cause of the abortion. This information may also be helpful for genetic counseling and considering future pregnancies.

scholarly journals Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

2015 ◽  
Vol 18 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Dana Mierla ◽  
M. Malageanu ◽  
R. Tulin ◽  
D. Albu
Keyword(s):  
Retrospective Study ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Control Group ◽  
Chromosomal Anomalies ◽  
Exact Test ◽  
Infertile Women ◽  
Infertile Men ◽  
Significant Statistical Association

AbstractThe purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities). In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

scholarly journals Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes

2017 ◽  
Vol 152 (2) ◽  
pp. 81-89 ◽  
Author(s):  
Anna Soler ◽  
Carme Morales ◽  
Irene Mademont-Soler ◽  
Ester Margarit ◽  
Antoni Borrell ◽  
...  
Keyword(s):  
Maternal Age ◽  
First Trimester ◽  
Chromosome Abnormalities ◽  
Chorionic Villi ◽  
Autosomal Trisomy ◽  
Different Types ◽  
Placental Mosaicism ◽  
Short Term Culture ◽  
Maternal Contamination

In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed. An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64.6% of the abnormal cases), followed by triploidy (13.1%) and monosomy X (10.4%). Chromosome rearrangements were found in 5.2%, combined abnormalities in 8.9%, and placental mosaicism in 3.5% of the cases with STC and LTC performed. Individual trisomies behaved differently with respect to maternal age and intrauterine survival. Due to the combination of STC and LTC, our study offers reliable information on the incidence and type of chromosome abnormalities and placental mosaicism in miscarriages and contributes to define the cytogenetic implication in their etiology.

scholarly journals Perioperative use of serum creatinine and postoperative acute kidney injury: a single-centre, observational retrospective study to explore physicians’ perception and practice

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Gianluca Villa ◽  
Silvia De Rosa ◽  
Caterina Scirè Calabrisotto ◽  
Alessandro Nerini ◽  
Thomas Saitta ◽  
...  
Keyword(s):  
Acute Kidney Injury ◽  
Retrospective Study ◽  
High Risk ◽  
Abdominal Surgery ◽  
Serum Creatinine ◽  
Malignant Disease ◽  
Kidney Injury ◽  
Major Surgery ◽  
Single Centre

Abstract Background Postoperative acute kidney injury (PO-AKI) is a leading cause of short- and long-term morbidity and mortality, as well as progression to chronic kidney disease (CKD). The aim of this study was to explore the physicians’ attitude toward the use of perioperative serum creatinine (sCr) for the identification of patients at risk for PO-AKI and long-term CKD. We also evaluated the incidence and risk factors associated with PO-AKI and renal function deterioration in patients undergoing major surgery for malignant disease. Methods Adult oncological patients who underwent major abdominal surgery from November 2016 to February 2017 were considered for this single-centre, observational retrospective study. Routinely available sCr values were used to define AKI in the first three postoperative days. Long-term kidney dysfunction (LT-KDys) was defined as a reduction in the estimated glomerular filtration rate by more than 10 ml/min/m2 at 12 months postoperatively. A questionnaire was administered to 125 physicians caring for the enrolled patients to collect information on local attitudes regarding the use of sCr perioperatively and its relationship with PO-AKI. Results A total of 423 patients were observed. sCr was not available in 59 patients (13.9%); the remaining 364 (86.1%) had at least one sCr value measured to allow for detection of postoperative kidney impairment. Among these, PO-AKI was diagnosed in 8.2% of cases. Of the 334 patients who had a sCr result available at 12-month follow-up, 56 (16.8%) developed LT-KDys. Data on long-term kidney function were not available for 21% of patients. Interestingly, 33 of 423 patients (7.8%) did not have a sCr result available in the immediate postoperative period or long term. All the physicians who participated in the survey (83 out of 125) recognised that postoperative assessment of sCr is required after major oncological abdominal surgery, particularly in those patients at high risk for PO-AKI and LT-KDys. Conclusion PO-AKI after major surgery for malignant disease is common, but clinical practice of measuring sCr is variable. As a result, the exact incidence of PO-AKI and long-term renal prognosis are unclear, including in high-risk patients. Trial registration ClinicalTrials.gov, NCT04341974.

scholarly journals Stability of Imprinting and Differentiation Capacity in Naïve Human Cells Induced by Chemical Inhibition of CDK8 and CDK19

Cells ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 876
Author(s):  
Raquel Bernad ◽  
Cian J. Lynch ◽  
Rocio G. Urdinguio ◽  
Camille Stephan-Otto Attolini ◽  
Mario F. Fraga ◽  
...  
Keyword(s):  
Stem Cells ◽  
Pluripotent Stem Cells ◽  
Primordial Germ Cell ◽  
Normal Karyotype ◽  
Cell Types ◽  
Dna Demethylation ◽  
Starting State ◽  
Teratoma Formation

Pluripotent stem cells can be stabilized in vitro at different developmental states by the use of specific chemicals and soluble factors. The naïve and primed states are the best characterized pluripotency states. Naïve pluripotent stem cells (PSCs) correspond to the early pre-implantation blastocyst and, in mice, constitute the optimal starting state for subsequent developmental applications. However, the stabilization of human naïve PSCs remains challenging because, after short-term culture, most current methods result in karyotypic abnormalities, aberrant DNA methylation patterns, loss of imprinting and severely compromised developmental potency. We have recently developed a novel method to induce and stabilize naïve human PSCs that consists in the simple addition of a chemical inhibitor for the closely related CDK8 and CDK19 kinases (CDK8/19i). Long-term cultured CDK8/19i-naïve human PSCs preserve their normal karyotype and do not show widespread DNA demethylation. Here, we investigate the long-term stability of allele-specific methylation at imprinted loci and the differentiation potency of CDK8/19i-naïve human PSCs. We report that long-term cultured CDK8/19i-naïve human PSCs retain the imprinting profile of their parental primed cells, and imprints are further retained upon differentiation in the context of teratoma formation. We have also tested the capacity of long-term cultured CDK8/19i-naïve human PSCs to differentiate into primordial germ cell (PGC)-like cells (PGCLCs) and trophoblast stem cells (TSCs), two cell types that are accessible from the naïve state. Interestingly, long-term cultured CDK8/19i-naïve human PSCs differentiated into PGCLCs with a similar efficiency to their primed counterparts. Also, long-term cultured CDK8/19i-naïve human PSCs were able to differentiate into TSCs, a transition that was not possible for primed PSCs. We conclude that inhibition of CDK8/19 stabilizes human PSCs in a functional naïve state that preserves imprinting and potency over long-term culture.

scholarly journals Long term clinical result of implant induced injury on the adjacent tooth

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yang-Jin Yi ◽  
In-Woo Park ◽  
Jeong-Kui Ku ◽  
Deuk-Won Jo ◽  
Jung-Suk Han ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Root Surface ◽  
Chi Square ◽  
Group Iii ◽  
Direct Invasion ◽  
Adjacent Tooth ◽  
Group I ◽  
Long Term Result ◽  
Root Group

AbstractThe purpose of the retrospective study was to investigate the long-term result of implant-induced injury on the adjacent tooth. The subjects of this retrospective study were patients who had received implants and had tooth injury; direct invasion of root (group I), root surface contact (group II), or < 1 mm distance of the implant from the root (group III). Clinical and pathological changes were periodically examined using radiographs and intra-oral examinations. Paired t-tests and chi-square tests were used to evaluate the implant stability quotient (ISQ) of implant and tooth complications, respectively (α = 0.05). A total of 32 implants and teeth in 28 patients were observed for average 122.7 (± 31.7, minimum 86) months. Seven teeth, three of which were subsequently extracted, needed root canal treatment. Finally, 90.6% of the injured teeth remained functional. Complications were significant and varied according to the group, with group I showing higher events than the others. The ISQs increased significantly. One implant in group I resulted in osseointegration failure. The implant survival rate was 96.9%. In conclusion, it was found even when a tooth is injured by an implant, immediate extraction is unnecessary, and the osseointegration of the invading implant is also predictable.

scholarly journals The pathology of natural and experimentally induced Campylobacter jejuni abortion in sheep

2021 ◽  
pp. 104063872110332
Author(s):  
Michael J. Yaeger ◽  
Orhan Sahin ◽  
Paul J. Plummer ◽  
Zuowei Wu ◽  
Judith A. Stasko ◽  
...  
Keyword(s):  
Campylobacter Jejuni ◽  
Chorionic Villus ◽  
Chorionic Villi ◽  
Purulent Meningitis ◽  
Microscopic Lesion ◽  
Transmission Electron ◽  
Induced Abortions ◽  
Gross Lesions ◽  
Hepatic Lesions ◽  
Experimentally Induced

We describe here the gross and microscopic lesions in 18 experimentally induced and 120 natural Campylobacter abortions. In natural Campylobacter abortions, gross lesions were reported infrequently; placentitis was recorded in 6% and hepatic lesions in 4% of our field cases. Placentitis was the microscopic lesion identified most consistently in natural abortions (93%) and was often observed in association with abundant bacterial colonies in chorionic villi (54%) and less often with placental vasculitis (13%). In natural abortions, suppurative fetal pneumonia (48%), necrosuppurative hepatitis (16%), and purulent meningitis (7%) were also observed. The better-preserved specimens from experimentally induced abortions were utilized to define placental changes more precisely. Placentitis was identified in all 18 experimentally induced abortions and was observed most consistently in the chorionic villus stroma (100%), often accompanied by suppurative surface exudate (89%). An inflammatory infiltrate was less commonly identified in the cotyledonary hilus (39%) and intercotyledonary placenta (22%). Bacteria were visualized in H&E-stained sections in 89% of placentas from experimentally infected ewes, primarily as well-demarcated bacterial colonies within subtrophoblastic, sinusoidal capillaries (89%), in the cotyledonary villus stroma (89%), and within the cytoplasm of trophoblasts (22%). Transmission electron microscopy and immunohistochemistry confirmed that the vast majority of the well-demarcated bacterial colonies characteristic of Campylobacter abortion were within subtrophoblastic sinusoidal capillaries. The most characteristic microscopic lesions identified in cases of Campylobacter abortion in sheep were placentitis with placental bacterial colonies, placental vasculitis, and fetal pneumonia.

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