OAR@UM Community:

Methylation analysis of products of conception with features of partial hydatidiform moles

Thu, 01 Jan 2026 00:00:00 GMT

Title: Methylation analysis of products of conception with features of partial hydatidiform moles Abstract: Background: A hydatidiform molar (HM) pregnancy occurs when a fertilised egg implants in the uterus and develops into an abnormal embryonic mass with hydropic degeneration of chorionic villi. Partial hydatidifom molar pregnancies (PHM) are more commonly triploid and occasionally tetraploid, with an additonal paternal chromosmal complement.; Materials and Methods: Nineteen POC samples with features of PHM were assessed for their methylation status in 20 germline differentially methylated regions (gDMRs) that reflect the parent-of-origin methylation within these tissues. The Implicon method was used to obtain bisulfite-converted DNA amplicons that could be sequenced on Illumina MiSeq. Sequencing data was processed using Illumina base-calling pipelines, and then trimmed, aligned to Human GRCh38 and de-duplicated using Bismark tools. Finally, CpG methylation calls were extracted and the representation of methylation for each gene and sample could be visualised. [excerpt]

The impact of climate change on neurological disorders : focus on stroke and neurodegenerative diseases

Mon, 01 Jan 2024 00:00:00 GMT

Title: The impact of climate change on neurological disorders : focus on stroke and neurodegenerative diseases Abstract: Climate change, characterized by global warming and air pollution, presents a significant threat to human health in the 21st century. One aspect of concern is its impact on cerebrovascular and neurodegenerative disorders, yet the exact mechanisms and extent of this influence remain unclear. The present study examines the association between these environmental phenomena and the increased prevalence and severity of neurological disorders, specifically stroke and neurodegenerative diseases. Furthermore, it aims to clarify the underlying pathophysiological mechanisms that connect these environmental factors to neurological disorders. [excerpt]

Chromosome X truncation artefact of formalin fixed paraffin embedded fluoroscence in-situ analysis

Mon, 01 Jan 2024 00:00:00 GMT

Title: Chromosome X truncation artefact of formalin fixed paraffin embedded fluoroscence in-situ analysis Abstract: A hydatidiform molar (HM) pregnancy occurs when a non-viable fertilised ovum implants itself in the uterus and develops into an abnormal embryonic mass with hydropic degeneration of chorionic villi. HM pregnancies are divided into two broad categories, partial HM (PHM) and complete HM (CHM), which have different morphological and genetic characteristics and the correct classification is important to the patient’s management. Five chromosomes; 13, 18, 21, X and Y, were assessed by fluorescence in-situ hybridisation (FISH) in 11 products of conception tissues with a clinical and macroscopical picture of HM that were found negative for the p57KIP2 protein by immunohistochemistry analysis. Diploidy is a feature of CHMs, while PHMs are generally triploid and rarely tetraploid. Truncation artefacts were challenging in the analysis of FISH stained FFPE tissue sections of these tissue. The higher incidence of chromosome X monosomy in these cases, a feature not as exhibited by the other chromosomes is of note. The objective was to establish a cut-off value as to correctly classify these tissues.

Factors associated with miscarriage in Maltese women presenting with bleeding in the first trimester

Mon, 01 Jan 2007 00:00:00 GMT

Title: Factors associated with miscarriage in Maltese women presenting with bleeding in the first trimester Abstract: Background: Women presenting with threatened miscarriage are concerned about the outcome of their pregnancy and obstetricians can offer little help to these women beyond conservative management. In St Luke’s Hospital, Malta, a need was felt to try to identify any possible factors that could aggravate or improve the risk of these women to proceed to complete miscarriage.; Aim: The objective was to identify any factors that could increase or decrease the risk of a threatened miscarriage proceeding to a complete miscarriage.; Patients: All 202 women who presented to the Gynaecology Admission Room at St Luke’s Hospital, Malta with threatened miscarriage between January and June 2004. Women with multiple pregnancies or cervical incompetence were excluded.; Methods: After ethical approval of this observational study, the medical notes of these women were traced and retrospective follow up ascertained whether these women proceeded to a miscarriage or a livebirth. A proforma including a number of parameters that could influence the outcome of these pregnancies in any way was designed and data on these parameters in each of the women was collected. Statistical analyses were carried out using SPSS 15.; Results: Sixty two percent of the women with threatened miscarriage subsequently had a miscarriage. Pain and the amount of blood loss at the time of presentation were significantly associated with a worse prognosis (p<0.001). Menstrual cycle history or smoking status did not have any significant association with the outcome of these women. Treatment of patients with progesterone (dydrogesterone) decreased the risk of subsequent miscarriage (p=0.001). Although aspirin did not have an effect, folate tended to decrease the miscarriage rate (p=0.08). Only 63% of those who miscarried were on folate, as compared to 76% of those who proceeded to livebirth. In addition, the miscarriage group had a highly significantly higher number of previous miscarriages than those who had a live birth (p=0.006).; Conclusion: Pain and moderate to severe bleeding and a history of previous miscarriages are the factors related to an adverse outcome in threatened miscarriage patients. Dydrogesterone appears to have a significant protective effect in these pregnancies while aspirin did not improve the outcome. The effect of folate should be investigated further with a larger cohort.